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 SPEN 23013 broad.mit.edu 37 1 16203019 16203019 + Silent SNP C C A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:16203019C>A uc001axk.1 + 3 931 c.727C>A c.(727-729)CGG>AGG p.R243R SPEN_uc010obp.1_Silent_p.R202R NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 243 Ser-rich.|Arg-rich.|By similarity. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CAGCAGGAGTCGGTCACCACA 0.547 NA 27 55 8.25e-16 9.63e-16 1 0 SLC9A1 6548 broad.mit.edu 37 1 27427043 27427043 + Nonsense_Mutation SNP C C A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:27427043C>A uc001bnm.2 - 12 2829 c.2203G>T c.(2203-2205)GAA>TAA p.E735* SLC9A1_uc001bnl.2_Nonsense_Mutation_p.E239*|SLC9A1_uc010ofk.1_Nonsense_Mutation_p.E396* NM_003047 NP_003038 P19634 SL9A1_HUMAN solute carrier family 9, isoform A1 735 Cytoplasmic (Potential). regulation of pH integral to membrane sodium:hydrogen antiporter activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) TTCAGCTCTTCATTCACCAGG 0.607 NA 111 325 5.55e-77 6.67e-77 1 0 LCK 3932 broad.mit.edu 37 1 32739961 32739961 + Missense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:32739961G>A uc001bux.2 + 2 169 c.31G>A c.(31-33)GAT>AAT p.D11N LCK_uc001buy.2_Missense_Mutation_p.D11N|LCK_uc001buz.2_Missense_Mutation_p.D11N|LCK_uc010ohc.1_Missense_Mutation_p.D55N|LCK_uc001bva.2_Missense_Mutation_p.D11N NM_005356 NP_005347 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 11 Interactions with CD4 and CD8 (By similarity). activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding lung(3)|central_nervous_system(2)|ovary(1) 6 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) ACACCCGGAAGATGACTGGAT 0.567 NA T TRB@ T-ALL 11 83 0 0 0 0 LCK 3932 broad.mit.edu 37 1 32740021 32740021 + Missense_Mutation SNP G G T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:32740021G>T uc001bux.2 + 2 229 c.91G>T c.(91-93)GAT>TAT p.D31Y LCK_uc001buy.2_Missense_Mutation_p.D31Y|LCK_uc001buz.2_Missense_Mutation_p.D31Y|LCK_uc010ohc.1_Missense_Mutation_p.D75Y|LCK_uc001bva.2_Missense_Mutation_p.D31Y NM_005356 NP_005347 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 31 Interactions with CD4 and CD8 (By similarity). activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding lung(3)|central_nervous_system(2)|ovary(1) 6 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) AGTCCCACTGGATGGCAAGGG 0.552 NA T TRB@ T-ALL 9 72 1.77e-08 2e-08 1 0 LCK 3932 broad.mit.edu 37 1 32745441 32745441 + Splice_Site SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:32745441G>A uc001bux.2 + 11 1180 c.1042_splice c.e11-1 p.I348_splice LCK_uc001buy.2_Splice_Site_p.I348_splice|LCK_uc001buz.2_Splice_Site_p.I378_splice|LCK_uc010ohc.1_Splice_Site_p.I392_splice|LCK_uc001bva.2_Splice_Site_p.I355_splice NM_005356 NP_005347 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding lung(3)|central_nervous_system(2)|ovary(1) 6 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) TTGGCCTGCAGATTGCAGAAG 0.542 NA T TRB@ T-ALL 20 142 0 0 0 0 PTPRF 5792 broad.mit.edu 37 1 44058140 44058140 + Missense_Mutation SNP T T C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:44058140T>C uc001cjr.2 + 11 2021 c.1681T>C c.(1681-1683)TTC>CTC p.F561L PTPRF_uc001cjs.2_Missense_Mutation_p.F561L|PTPRF_uc001cju.2_Missense_Mutation_p.F132L|PTPRF_uc009vwt.2_Missense_Mutation_p.F132L|PTPRF_uc001cjv.2_Missense_Mutation_p.F132L NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 561 Extracellular (Potential).|Fibronectin type-III 3. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CAAGGTGACCTTCGACCCAAC 0.572 NA 50 164 0 0 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77510090 77510090 + Missense_Mutation SNP A A G rs34735755 TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:77510090A>G uc001dhi.2 + 3 638 c.463A>G c.(463-465)AAC>GAC p.N155D ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA NM_030965 NP_112227 Q9BVH7 SIA7E_HUMAN sialyltransferase 7E 155 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity pancreas(1)|skin(1) 2 GATCCTCCGCAACCGCCATGA 0.637 NA 15 58 0 0 0 0 BCAR3 8412 broad.mit.edu 37 1 94037258 94037258 + Nonsense_Mutation SNP G G C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:94037258G>C uc001dpz.2 - 9 2218 c.1943C>G c.(1942-1944)TCA>TGA p.S648* BCAR3_uc001dqa.2_Nonsense_Mutation_p.S648*|BCAR3_uc001dqb.2_Nonsense_Mutation_p.S648*|BCAR3_uc001dpx.3_Nonsense_Mutation_p.S324*|BCAR3_uc001dpy.2_Nonsense_Mutation_p.S557*|BCAR3_uc009wdm.1_Nonsense_Mutation_p.S324* NM_003567 NP_003558 O75815 BCAR3_HUMAN breast cancer antiestrogen resistance 3 648 Ras-GEF. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) CATGAGAGCTGAGAAGGAATA 0.478 NA 25 128 0 0 0 0 OLFM3 118427 broad.mit.edu 37 1 102270141 102270141 + Nonsense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:102270141G>A uc001duf.2 - 6 1161 c.1090C>T c.(1090-1092)CAG>TAG p.Q364* OLFM3_uc001dug.2_Nonsense_Mutation_p.Q344*|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Nonsense_Mutation_p.Q269*|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 364 Olfactomedin-like. extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) CCTGCATTCTGGTTAGTTGCA 0.483 NA 11 68 0 0 0 0 WDR47 22911 broad.mit.edu 37 1 109554265 109554265 + Missense_Mutation SNP T T C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:109554265T>C uc001dwj.2 - 5 779 c.403A>G c.(403-405)AGT>GGT p.S135G WDR47_uc001dwl.2_Missense_Mutation_p.S142G|WDR47_uc001dwi.2_Missense_Mutation_p.S135G|WDR47_uc001dwk.2_Missense_Mutation_p.S107G|WDR47_uc010ovf.1_Missense_Mutation_p.S62G NM_001142551 NP_001136023 O94967 WDR47_HUMAN WD repeat domain 47 isoform 3 135 ovary(1) 1 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) CAGAGCTTACTATAGTCATCT 0.408 NA 44 180 0 0 0 0 MRPL9 65005 broad.mit.edu 37 1 151734860 151734860 + Nonsense_Mutation SNP C C A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:151734860C>A uc001eyv.2 - 3 512 c.427G>T c.(427-429)GAG>TAG p.E143* MRPL9_uc009wmz.2_RNA|MRPL9_uc010pdk.1_Nonsense_Mutation_p.E143*|MRPL9_uc009wna.1_3'UTR NM_031420 NP_113608 Q9BYD2 RM09_HUMAN mitochondrial ribosomal protein L9 precursor 143 translation mitochondrial ribosome structural constituent of ribosome ovary(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) ACCAATTTCTCCTCTTCAAAC 0.438 NA 40 158 3.43e-23 4.09e-23 1 0 OR10T2 128360 broad.mit.edu 37 1 158368589 158368589 + Missense_Mutation SNP A A G TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:158368589A>G uc010pih.1 - 1 668 c.668T>C c.(667-669)GTT>GCT p.V223A NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, 223 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_hematologic(112;0.0378) GATGGTGTTAACTATGAAGCC 0.473 NA 7 47 0 0 0 0 BAT2L2 23215 broad.mit.edu 37 1 171506560 171506560 + Missense_Mutation SNP G G C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:171506560G>C uc010pmg.1 + 15 2712 c.2446G>C c.(2446-2448)GAG>CAG p.E816Q BAT2L2_uc010pmh.1_5'Flank NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 816 protein C-terminus binding 0 TCCTCATGCTGAGCCTCAACA 0.408 NA 2 8 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564125 176564125 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:176564125C>T uc001gkz.2 + 3 2549 c.1385C>T c.(1384-1386)CCT>CTT p.P462L PAPPA2_uc001gky.1_Missense_Mutation_p.P462L|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 462 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 AGCTTTGAGCCTGTGAACACA 0.542 NA 24 111 0 0 0 0 HMCN1 83872 broad.mit.edu 37 1 186039757 186039757 + Silent SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:186039757C>T uc001grq.1 + 52 8236 c.8007C>T c.(8005-8007)ATC>ATT p.I2669I NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2669 Ig-like C2-type 25. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CACCCATAATCAATAAAGGGG 0.373 NA 25 110 0 0 0 0 KDM5B 10765 broad.mit.edu 37 1 202724420 202724420 + Missense_Mutation SNP T T A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:202724420T>A uc001gyf.2 - 11 1633 c.1517A>T c.(1516-1518)TAT>TTT p.Y506F KDM5B_uc009xag.2_Missense_Mutation_p.Y542F|KDM5B_uc001gyg.1_Missense_Mutation_p.Y348F NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 506 JmjC. negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 GTTAATTGAATAGCTCCAGTG 0.403 NA 32 92 0 0 0 0 TLR5 7100 broad.mit.edu 37 1 223284063 223284063 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:223284063C>T uc001hnv.1 - 4 2757 c.2311G>A c.(2311-2313)GCC>ACC p.A771T TLR5_uc001hnw.1_Missense_Mutation_p.A771T NM_003268 NP_003259 O60602 TLR5_HUMAN toll-like receptor 5 precursor 771 Cytoplasmic (Potential).|TIR. Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity ovary(2)|lung(1)|skin(1) 4 GBM - Glioblastoma multiforme(131;0.0851) TAACTGAAGGCTTCAAGGCAC 0.483 NA 11 45 0 0 0 0 EXOC8 149371 broad.mit.edu 37 1 231472440 231472440 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:231472440C>T uc001huq.2 - 1 1139 c.1052G>A c.(1051-1053)AGA>AAA p.R351K NM_175876 NP_787072 Q8IYI6 EXOC8_HUMAN exocyst complex 84-kDa subunit 351 exocytosis|protein transport growth cone|nucleus protein binding skin(1) 1 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) TTCAAAGTCTCTCTGCGCAAT 0.498 NA 28 132 0 0 0 0 FMN2 56776 broad.mit.edu 37 1 240493979 240493979 + Missense_Mutation SNP A A T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:240493979A>T uc010pyd.1 + 11 4739 c.4514A>T c.(4513-4515)AAT>ATT p.N1505I FMN2_uc010pye.1_Missense_Mutation_p.N1509I|FMN2_uc010pyf.1_Missense_Mutation_p.N151I|FMN2_uc010pyg.1_Missense_Mutation_p.N101I NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1505 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AATGGAGGAAATAAGACTCGA 0.403 NA 29 93 0 0 0 0 NMT2 9397 broad.mit.edu 37 10 15175327 15175327 + Missense_Mutation SNP C C G TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr10:15175327C>G uc001inz.1 - 4 511 c.427G>C c.(427-429)GAT>CAT p.D143H NMT2_uc001ioa.1_Missense_Mutation_p.D130H|NMT2_uc009xjo.1_Missense_Mutation_p.D143H|NMT2_uc010qbz.1_5'UTR NM_004808 NP_004799 O60551 NMT2_HUMAN N-myristoyltransferase 2 143 N-terminal protein myristoylation|protein lipoylation Golgi apparatus|plasma membrane glycylpeptide N-tetradecanoyltransferase activity ovary(1) 1 TTGTCTTTATCTGGTTCAATT 0.398 NA 24 109 0 0 0 0 PCDH15 65217 broad.mit.edu 37 10 55591229 55591229 + Missense_Mutation SNP G G A rs138398244 TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr10:55591229G>A uc001jju.1 - 30 4443 c.4048C>T c.(4048-4050)CGC>TGC p.R1350C PCDH15_uc010qhq.1_Missense_Mutation_p.R1355C|PCDH15_uc010qhr.1_Missense_Mutation_p.R1350C|PCDH15_uc010qhs.1_Missense_Mutation_p.R1362C|PCDH15_uc010qht.1_Missense_Mutation_p.R1357C|PCDH15_uc010qhu.1_Missense_Mutation_p.R1350C|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R1350C|PCDH15_uc010qhw.1_Missense_Mutation_p.R1313C|PCDH15_uc010qhx.1_Missense_Mutation_p.R1279C|PCDH15_uc010qhy.1_Missense_Mutation_p.R1355C|PCDH15_uc010qhz.1_Missense_Mutation_p.R1350C|PCDH15_uc010qia.1_Missense_Mutation_p.R1328C|PCDH15_uc010qib.1_Missense_Mutation_p.R1328C NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1350 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) TCCAGAATGCGTCCTCCTTCC 0.413 NA HNSCC(58;0.16) 22 92 0 0 0 0 TNKS2 80351 broad.mit.edu 37 10 93586790 93586790 + Missense_Mutation SNP A A G TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr10:93586790A>G uc001khp.2 + 8 1109 c.812A>G c.(811-813)AAT>AGT p.N271S NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 271 ANK 5. positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) GCCTGTGTAAATGCAATGGAC 0.368 NA 15 81 0 0 0 0 RNH1 6050 broad.mit.edu 37 11 494726 494726 + Missense_Mutation SNP C C G TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr11:494726C>G uc001lpk.1 - 9 2759 c.1351G>C c.(1351-1353)GAG>CAG p.E451Q RNH1_uc001lpl.1_Missense_Mutation_p.E451Q|RNH1_uc001lpm.1_Missense_Mutation_p.E451Q|RNH1_uc001lpn.1_Missense_Mutation_p.E451Q|RNH1_uc001lpo.1_Missense_Mutation_p.E451Q|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.E451Q|RNH1_uc001lpt.1_Missense_Mutation_p.E208Q|RNH1_uc001lpq.1_Missense_Mutation_p.E451Q|RNH1_uc001lpr.1_Missense_Mutation_p.E451Q|RNH1_uc001lps.1_Missense_Mutation_p.E451Q NM_203389 NP_976323 P13489 RINI_HUMAN ribonuclease/angiogenin inhibitor 451 mRNA catabolic process|regulation of angiogenesis angiogenin-PRI complex|cytoplasm protein binding|ribonuclease inhibitor activity 0 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703) TTGTCCTTCTCCAGGGCCTGC 0.657 NA 21 131 0 0 0 0 KCNA4 3739 broad.mit.edu 37 11 30032400 30032400 + Missense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr11:30032400G>A uc001msk.2 - 2 2978 c.1826C>T c.(1825-1827)TCA>TTA p.S609L NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 609 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TAGATACTCTGACTTGTCCCC 0.463 NA 18 82 0 0 0 0 KBTBD4 55709 broad.mit.edu 37 11 47594881 47594881 + Silent SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr11:47594881C>T uc001nfx.2 - 4 1329 c.1158G>A c.(1156-1158)GAG>GAA p.E386E PTPMT1_uc001nfs.3_3'UTR|PTPMT1_uc001nfv.3_3'UTR|PTPMT1_uc009ylt.2_3'UTR|PTPMT1_uc001nfu.3_3'UTR|NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Silent_p.E411E|KBTBD4_uc001nfz.2_Silent_p.E402E|KBTBD4_uc001nfy.2_Silent_p.E386E NM_016506 NP_057590 Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 386 Kelch 4. ovary(1)|central_nervous_system(1) 2 GATCATTCTCCTCCCCCCCTA 0.512 NA 27 94 0 0 0 0 OR5L1 219437 broad.mit.edu 37 11 55579185 55579185 + Missense_Mutation SNP G G T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr11:55579185G>T uc001nhw.1 + 1 243 c.243G>T c.(241-243)ATG>ATT p.M81I NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 81 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) TGCCAAAAATGTTGGCTAATA 0.458 NA 64 246 1.69e-38 2.03e-38 1 0 OR8J1 219477 broad.mit.edu 37 11 56127847 56127847 + Missense_Mutation SNP A A T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr11:56127847A>T uc010rjh.1 + 1 125 c.125A>T c.(124-126)AAC>ATC p.N42I NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 42 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) ATGGCAGGGAACCTGGGCATC 0.493 NA 34 132 0 0 0 0 RARRES3 5920 broad.mit.edu 37 11 63312266 63312266 + Missense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr11:63312266G>A uc001nxf.3 + 3 360 c.292G>A c.(292-294)GAG>AAG p.E98K NM_004585 NP_004576 Q9UL19 TIG3_HUMAN retinoic acid receptor responder (tazarotene 98 lipid catabolic process|negative regulation of cell proliferation hydrolase activity ovary(1) 1 TTCTGCGAAGGAGATGGTTGG 0.517 NA 51 144 0 0 0 0 FERMT3 83706 broad.mit.edu 37 11 63990913 63990913 + Silent SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr11:63990913G>A uc001nyl.2 + 15 2102 c.1953G>A c.(1951-1953)GAG>GAA p.E651E FERMT3_uc001nym.2_Silent_p.E647E|NUDT22_uc009ypd.2_5'Flank|NUDT22_uc001nyp.3_5'Flank|NUDT22_uc009ype.2_5'Flank|NUDT22_uc001nyq.3_5'Flank NM_178443 NP_848537 Q86UX7 URP2_HUMAN fermitin family homolog 3 long form 651 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding ovary(1) 1 GTGGGGAGGAGCTGGATGAAG 0.622 NA 16 43 0 0 0 0 SLC22A12 116085 broad.mit.edu 37 11 64366325 64366325 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr11:64366325C>T uc001oam.1 + 6 1747 c.1000C>T c.(1000-1002)CCT>TCT p.P334S SLC22A12_uc009ypr.1_Missense_Mutation_p.P359S|SLC22A12_uc001oal.1_Missense_Mutation_p.P113S|SLC22A12_uc009yps.1_Missense_Mutation_p.P300S|SLC22A12_uc001oan.1_Missense_Mutation_p.P226S|SLC22A12_uc009ypt.2_Missense_Mutation_p.P152S NM_144585 NP_653186 Q96S37 S22AC_HUMAN urate anion exchanger 1 isoform a 334 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity ovary(1) 1 GGGCCAGCCTCCTGCCAGCCT 0.672 NA 4 71 0 0 0 0 NAALADL1 10004 broad.mit.edu 37 11 64813578 64813578 + Missense_Mutation SNP C C A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr11:64813578C>A uc001ocn.2 - 16 1880 c.1864G>T c.(1864-1866)GTG>TTG p.V622L NAALADL1_uc010rnw.1_Missense_Mutation_p.V98L|NAALADL1_uc009ypz.2_RNA NM_005468 NP_005459 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic 622 Extracellular (Potential). proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity 0 ACTGCAGTCACCAGAGGCCCT 0.607 NA 20 76 7.45e-12 8.6e-12 1 0 MUS81 80198 broad.mit.edu 37 11 65631171 65631171 + Missense_Mutation SNP G G C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr11:65631171G>C uc001ofv.3 + 9 1293 c.940G>C c.(940-942)GAG>CAG p.E314Q MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_5'UTR NM_025128 NP_079404 Q96NY9 MUS81_HUMAN MUS81 endonuclease homolog 314 ERCC4. DNA recombination|DNA repair nucleolus 3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding 0 READ - Rectum adenocarcinoma(159;0.166) GGTGGCCCAGGAGACCAATCC 0.657 NA Homologous_recombination 10 109 0 0 0 0 NPAS4 266743 broad.mit.edu 37 11 66192180 66192180 + Nonsense_Mutation SNP G G T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr11:66192180G>T uc001ohx.1 + 7 1995 c.1819G>T c.(1819-1821)GAA>TAA p.E607* NPAS4_uc010rpc.1_Nonsense_Mutation_p.E397* NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 607 transcription, DNA-dependent DNA binding|signal transducer activity 0 CCTGGTGCCCGAAGGCCTGCT 0.592 NA 20 349 2.38e-13 2.76e-13 1 0 ATM 472 broad.mit.edu 37 11 108224518 108224518 + Missense_Mutation SNP C C G TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr11:108224518C>G uc001pkb.1 + 60 9082 c.8697C>G c.(8695-8697)ATC>ATG p.I2899M ATM_uc009yxr.1_Missense_Mutation_p.I2899M|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.I1551M NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2899 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) AGGGCAAAATCCTTCCTACTC 0.398 NA D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 85 115 0 0 0 0 CPNE8 144402 broad.mit.edu 37 12 39223185 39223185 + Missense_Mutation SNP T T A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr12:39223185T>A uc001rls.1 - 6 487 c.403A>T c.(403-405)ATA>TTA p.I135L NM_153634 NP_705898 Q86YQ8 CPNE8_HUMAN copine VIII 135 pancreas(1) 1 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) ACTTACACTATTGGTTTTTCC 0.363 NA 46 213 0 0 0 0 XPOT 11260 broad.mit.edu 37 12 64818445 64818445 + Missense_Mutation SNP C C G TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr12:64818445C>G uc001ssb.2 + 12 1675 c.1249C>G c.(1249-1251)CAA>GAA p.Q417E NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 417 intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) CAGGCTTGCTCAAGTTTCACC 0.373 NA 20 116 0 0 0 0 CHPT1 56994 broad.mit.edu 37 12 102091698 102091698 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr12:102091698C>T uc001tin.2 + 1 282 c.59C>T c.(58-60)CCG>CTG p.P20L CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Missense_Mutation_p.P20L NM_020244 NP_064629 Q8WUD6 CHPT1_HUMAN choline phosphotransferase 1 20 platelet activating factor biosynthetic process|regulation of cell growth Golgi membrane|integral to membrane|microsome diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding 0 CTGAGCGAGCCGCTGAGCGCG 0.796 NA 3 6 0 0 0 0 GNPTAB 79158 broad.mit.edu 37 12 102158435 102158435 + Missense_Mutation SNP T T C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr12:102158435T>C uc001tit.2 - 13 2439 c.2260A>G c.(2260-2262)ATA>GTA p.I754V NM_024312 NP_077288 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase 754 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity ovary(1)|skin(1) 2 TCATCTGTTATTATAGCTTGA 0.383 NA 19 69 0 0 0 0 ZCCHC8 55596 broad.mit.edu 37 12 122966496 122966496 + Missense_Mutation SNP T T C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr12:122966496T>C uc001ucn.2 - 9 1002 c.871A>G c.(871-873)ATT>GTT p.I291V ZCCHC8_uc001ucm.2_Missense_Mutation_p.I53V|ZCCHC8_uc009zxp.2_Missense_Mutation_p.I53V|ZCCHC8_uc009zxq.2_Missense_Mutation_p.I53V NM_017612 NP_060082 Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 291 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) TAGTACCTAATAACTCCTGGC 0.383 NA 8 26 0 0 0 0 CENPJ 55835 broad.mit.edu 37 13 25458151 25458151 + Missense_Mutation SNP A A C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr13:25458151A>C uc001upt.3 - 16 4027 c.3774T>G c.(3772-3774)GAT>GAG p.D1258E CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA NM_018451 NP_060921 Q9HC77 CENPJ_HUMAN centromere protein J 1258 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding ovary(2) 2 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) CTTCTTGTCCATCAGGAAATA 0.358 NA 27 94 0 0 0 0 PIBF1 10464 broad.mit.edu 37 13 73366606 73366606 + Missense_Mutation SNP C C G TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr13:73366606C>G uc001vjc.2 + 3 579 c.274C>G c.(274-276)CTT>GTT p.L92V PIBF1_uc001vja.1_Missense_Mutation_p.L92V|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.L92V|PIBF1_uc010aep.2_Intron NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN progesterone-induced blocking factor 1 92 centrosome ovary(1)|breast(1) 2 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) GGAGGAGAAACTTAATGATGC 0.284 NA 9 67 0 0 0 0 DOCK9 23348 broad.mit.edu 37 13 99476724 99476724 + Silent SNP G G C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr13:99476724G>C uc001vnt.2 - 46 5116 c.5061C>G c.(5059-5061)GTC>GTG p.V1687V DOCK9_uc001vnw.2_Silent_p.V1686V|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.V1664V|DOCK9_uc001vnq.2_Silent_p.V236V|DOCK9_uc001vnr.2_Silent_p.V330V|DOCK9_uc010tin.1_Silent_p.V307V|DOCK9_uc001vns.2_Silent_p.V236V|DOCK9_uc010tio.1_Silent_p.V356V|DOCK9_uc010tip.1_Silent_p.V397V|DOCK9_uc001vnu.1_Silent_p.V236V|DOCK9_uc010tiq.1_Silent_p.V642V NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 1687 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TTGGGGTAATGACCCTGAAGG 0.537 NA 33 138 0 0 0 0 MDGA2 161357 broad.mit.edu 37 14 47504386 47504386 + Silent SNP C C A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr14:47504386C>A uc001wwj.3 - 8 1636 c.1440G>T c.(1438-1440)GCG>GCT p.A480A MDGA2_uc001wwi.3_Silent_p.A251A|MDGA2_uc010ani.2_Silent_p.A40A NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 480 Ig-like 5. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 CTTCTTTATCCGCTCTAGACC 0.413 NA 55 230 6.21e-19 7.31e-19 1 0 DLST 1743 broad.mit.edu 37 14 75367830 75367830 + Missense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr14:75367830G>A uc001xqv.2 + 14 1184 c.1121G>A c.(1120-1122)GGA>GAA p.G374E DLST_uc001xqu.2_Missense_Mutation_p.G286E|DLST_uc001xqt.2_Missense_Mutation_p.G290E|DLST_uc010tuw.1_Missense_Mutation_p.G288E NM_001933 NP_001924 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 374 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00698) ATTAGCAATGGAGGCGTTTTT 0.473 NA 21 94 0 0 0 0 DICER1 23405 broad.mit.edu 37 14 95560403 95560403 + Missense_Mutation SNP G G T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr14:95560403G>T uc001ydw.2 - 25 5368 c.5186C>A c.(5185-5187)CCG>CAG p.P1729Q DICER1_uc010avh.1_Missense_Mutation_p.P627Q|DICER1_uc001ydv.2_Missense_Mutation_p.P1719Q|DICER1_uc001ydx.2_Missense_Mutation_p.P1729Q NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 1729 RNase III 2. P->E: No effect on activity. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CAGGACCCCCGGGGAGTGCTG 0.522 NA Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 6 99 2.01e-06 2.22e-06 1 0 DEGS2 123099 broad.mit.edu 37 14 100615443 100615443 + Silent SNP G G A rs145891510 TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr14:100615443G>A uc001ygx.2 - 2 775 c.687C>T c.(685-687)TTC>TTT p.F229F NM_206918 NP_996801 Q6QHC5 DEGS2_HUMAN degenerative spermatocyte homolog 2, lipid 229 Helical; (Potential). fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane sphingosine hydroxylase activity 0 Melanoma(154;0.212) GCTCGGCCACGAAGTGGCCCG 0.622 NA 10 129 0 0 0 0 RTF1 23168 broad.mit.edu 37 15 41769676 41769676 + Missense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr15:41769676G>A uc001zny.2 + 14 1715 c.1703G>A c.(1702-1704)CGG>CAG p.R568Q NM_015138 NP_055953 Q92541 RTF1_HUMAN Paf1/RNA polymerase II complex component 568 histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) CAGCGGAACCGGGAGTGGAAC 0.433 NA 13 111 0 0 0 0 PARP16 54956 broad.mit.edu 37 15 65555578 65555578 + Nonsense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr15:65555578C>T uc002aoo.2 - 4 854 c.600G>A c.(598-600)TGG>TGA p.W200* PARP16_uc002aop.2_Nonsense_Mutation_p.W85*|PARP16_uc002aoq.2_Nonsense_Mutation_p.W200* NM_017851 NP_060321 Q8N5Y8 PAR16_HUMAN poly (ADP-ribose) polymerase family, member 16 200 PARP catalytic. integral to membrane NAD+ ADP-ribosyltransferase activity lung(2) 2 GGCTGTGCTGCCACCCATGGC 0.582 NA 11 43 0 0 0 0 MPI 4351 broad.mit.edu 37 15 75189376 75189376 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr15:75189376C>T uc002azc.1 + 7 874 c.869C>T c.(868-870)TCA>TTA p.S290L MPI_uc002azd.1_Intron|MPI_uc010ulx.1_Missense_Mutation_p.S240L|MPI_uc002aze.1_Missense_Mutation_p.S229L NM_002435 NP_002426 P34949 MPI_HUMAN mannose-6- phosphate isomerase 290 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding ovary(2) 2 ATGGCGTGTTCAGACAACACA 0.537 NA 48 148 0 0 0 0 FAM173A 65990 broad.mit.edu 37 16 772479 772479 + Silent SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr16:772479C>T uc002cje.2 + 5 747 c.630C>T c.(628-630)TCC>TCT p.S210S NM_023933 NP_076422 Q9BQD7 F173A_HUMAN hypothetical protein LOC65990 210 integral to membrane pancreas(1) 1 AGGCCGCCTCCTCGCGGATAC 0.637 NA 13 30 0 0 0 0 CHD9 80205 broad.mit.edu 37 16 53358697 53358697 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr16:53358697C>T uc002ehb.2 + 38 8748 c.8584C>T c.(8584-8586)CCT>TCT p.P2862S CHD9_uc002egy.2_Missense_Mutation_p.P2846S|CHD9_uc002ehc.2_Missense_Mutation_p.P2847S|CHD9_uc002ehf.2_Missense_Mutation_p.P1960S|CHD9_uc010cbw.2_Missense_Mutation_p.P928S NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2862 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) TGAACCAAGTCCTCTCAATGA 0.398 NA 7 20 0 0 0 0 GFOD2 81577 broad.mit.edu 37 16 67709084 67709084 + Missense_Mutation SNP C C G TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr16:67709084C>G uc002eub.2 - 3 1427 c.1132G>C c.(1132-1134)GAG>CAG p.E378Q GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.E273Q NM_030819 NP_110446 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain 378 proteinaceous extracellular matrix binding|oxidoreductase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) TGAAGTGCCTCACACAGGTTC 0.627 NA 35 182 0 0 0 0 SLC7A6OS 84138 broad.mit.edu 37 16 68344358 68344358 + Missense_Mutation SNP G G T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr16:68344358G>T uc002evw.1 - 2 370 c.351C>A c.(349-351)AGC>AGA p.S117R PRMT7_uc002evx.1_5'Flank|PRMT7_uc002evy.1_5'Flank|PRMT7_uc010vlg.1_5'Flank NM_032178 NP_115554 Q96CW6 S7A6O_HUMAN solute carrier family 7, member 6 opposite 117 protein transport cytoplasm|nucleus ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106) ACTCCTGGCCGCTCGAGGTGG 0.672 NA 5 12 0.00116845 0.00123586 1 0 ZFPM1 161882 broad.mit.edu 37 16 88601319 88601319 + Missense_Mutation SNP A A T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr16:88601319A>T uc002fkv.2 + 10 2986 c.2953A>T c.(2953-2955)AGC>TGC p.S985C NM_153813 NP_722520 Q8IX07 FOG1_HUMAN zinc finger protein, multitype 1 985 C2HC-type 5. blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0478) CAAGTTCAGCAGCCTGTCCAC 0.622 NA 24 68 0 0 0 0 DPH1 1801 broad.mit.edu 37 17 1939319 1939319 + Missense_Mutation SNP G G T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr17:1939319G>T uc002fts.2 + 4 367 c.349G>T c.(349-351)GTG>TTG p.V117L DPH1_uc002ftr.1_RNA|DPH1_uc002ftt.2_Missense_Mutation_p.V112L|DPH1_uc010cjx.2_Intron|DPH1_uc010vqs.1_Missense_Mutation_p.V127L|DPH1_uc002ftu.2_5'Flank|DPH1_uc002ftv.2_5'Flank NM_001383 NP_001374 Q9BZG8 DPH1_HUMAN diptheria toxin resistance protein required for 117 peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation cytoplasm|nucleus pancreas(1) 1 GGCTTGCTGTGTGGATGACTT 0.647 NA 17 47 7.21e-19 8.46e-19 1 0 TP53 7157 broad.mit.edu 37 17 7577046 7577046 + Nonsense_Mutation SNP C C A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr17:7577046C>A uc002gim.2 - 8 1086 c.892G>T c.(892-894)GAG>TAG p.E298* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E298*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E166*|TP53_uc010cng.1_Nonsense_Mutation_p.E166*|TP53_uc002gii.1_Nonsense_Mutation_p.E166*|TP53_uc010cnh.1_Nonsense_Mutation_p.E298*|TP53_uc010cni.1_Nonsense_Mutation_p.E298*|TP53_uc002gij.2_Nonsense_Mutation_p.E298* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 298 Interaction with HIPK1 (By similarity). E -> V (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; 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.E298*(35)|p.0?(7)|p.E298K(2)|p.?(2)|p.E298V(2)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298A(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298fs*47(1)|p.E298E(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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) GGGGGCAGCTCGTGGTGAGGC 0.567 111 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) 21 66 4.16e-05 4.52e-05 1 0 DBF4B 80174 broad.mit.edu 37 17 42828155 42828155 + Missense_Mutation SNP C C G TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr17:42828155C>G uc002ihf.2 + 14 1595 c.1382C>G c.(1381-1383)GCT>GGT p.A461G DBF4B_uc010wjc.1_Intron NM_145663 NP_663696 Q8NFT6 DBF4B_HUMAN DBF4 homolog B isoform 1 461 cell cycle nucleus nucleic acid binding|zinc ion binding 0 Prostate(33;0.0322) ACTTCCTTGGCTCTGCTGCCT 0.632 NA 26 93 0 0 0 0 USP32 84669 broad.mit.edu 37 17 58343387 58343387 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr17:58343387C>T uc002iyo.1 - 8 1163 c.877G>A c.(877-879)GTG>ATG p.V293M USP32_uc010wov.1_Missense_Mutation_p.V293M NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 293 EF-hand 3. protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) AGTGCAACCACCATGTCTCTC 0.393 NA 7 135 0 0 0 0 ARSG 22901 broad.mit.edu 37 17 66391318 66391318 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr17:66391318C>T uc002jhc.2 + 10 1992 c.1196C>T c.(1195-1197)TCA>TTA p.S399L ARSG_uc002jhb.1_Missense_Mutation_p.S235L NM_014960 NP_055775 Q96EG1 ARSG_HUMAN Arylsulfatase G precursor 399 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) TTTGGCCGGTCACAGCCTGGG 0.582 NA 5 89 0 0 0 0 SLC9A3R1 9368 broad.mit.edu 37 17 72764743 72764743 + Missense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr17:72764743G>A uc002jlo.2 + 6 1248 c.1025G>A c.(1024-1026)CGG>CAG p.R342Q SLC9A3R1_uc002jlp.2_Missense_Mutation_p.R186Q NM_004252 NP_004243 O14745 NHRF1_HUMAN sodium/hydrogen exchanger regulatory factor 1 342 apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association 0 AGCAGCAAACGGGCCCCGCAG 0.612 NA 38 119 0 0 0 0 OSBPL1A 114876 broad.mit.edu 37 18 21745031 21745031 + Silent SNP C C T rs143353189 TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr18:21745031C>T uc002kve.2 - 27 2922 c.2748G>A c.(2746-2748)ACG>ACA p.T916T OSBPL1A_uc002kvd.2_Silent_p.T403T|OSBPL1A_uc010xbc.1_Silent_p.T534T NM_080597 NP_542164 Q9BXW6 OSBL1_HUMAN oxysterol-binding protein-like 1A isoform B 916 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding ovary(4) 4 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) GCACGCACCTCGTCTTCCAGT 0.532 NA 69 262 0 0 0 0 SMAD4 4089 broad.mit.edu 37 18 48591919 48591919 + Missense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr18:48591919G>A uc010xdp.1 + 9 1620 c.1082G>A c.(1081-1083)CGC>CAC p.R361H SMAD4_uc002lfb.3_Missense_Mutation_p.R206H NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 361 MH2. R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in JPS). BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.R361C(6)|p.R361H(3)|p.?(2)|p.R361S(1) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GGAGGAGATCGCTTTTGTTTG 0.413 NA Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 16 63 0 0 0 0 ACSBG2 81616 broad.mit.edu 37 19 6185605 6185605 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr19:6185605C>T uc002mef.1 + 11 1708 c.1481C>T c.(1480-1482)TCT>TTT p.S494F ACSBG2_uc002mee.1_Missense_Mutation_p.S307F|ACSBG2_uc002meg.1_Missense_Mutation_p.S494F|ACSBG2_uc002meh.1_Missense_Mutation_p.S494F|ACSBG2_uc002mei.1_Missense_Mutation_p.S444F|ACSBG2_uc010xiz.1_Missense_Mutation_p.S494F NM_030924 NP_112186 Q5FVE4 ACBG2_HUMAN bubblegum-related acyl-CoA synthetase 2 494 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity ovary(1) 1 TGGCTACACTCTGGGGATCTG 0.552 NA 9 151 0 0 0 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10221394 10221394 + Missense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr19:10221394G>A uc002mna.2 + 11 1053 c.1053G>A c.(1051-1053)ATG>ATA p.M351I PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.M351I|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Missense_Mutation_p.M351I|PPAN_uc002mnb.1_Missense_Mutation_p.M298I NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN PPAN-P2RY11 protein 351 RNA splicing nucleolus protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) TGGAGGGCATGAAGAAGGCAC 0.627 NA 16 63 0 0 0 0 S1PR2 9294 broad.mit.edu 37 19 10335464 10335464 + Missense_Mutation SNP T T A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr19:10335464T>A uc002mnl.2 - 2 229 c.118A>T c.(118-120)ATC>TTC p.I40F NM_004230 NP_004221 O95136 S1PR2_HUMAN endothelial differentiation, sphingolipid 40 Helical; Name=1; (By similarity). activation of MAPK activity|positive regulation of cell proliferation integral to membrane|plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity lung(1)|central_nervous_system(1) 2 AGGATGACGATGAAGGCCGAG 0.552 NA 43 235 0 0 0 0 PKN1 5585 broad.mit.edu 37 19 14569141 14569141 + Missense_Mutation SNP A A T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr19:14569141A>T uc002myp.2 + 9 1541 c.1373A>T c.(1372-1374)CAT>CTT p.H458L PKN1_uc002myq.2_Missense_Mutation_p.H464L NM_002741 NP_002732 Q16512 PKN1_HUMAN protein kinase N1 isoform 2 458 C2. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 AATGAGAGGCATGAGGTGCAG 0.577 NA 10 77 0 0 0 0 ZNF253 56242 broad.mit.edu 37 19 20003522 20003522 + Missense_Mutation SNP T T C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr19:20003522T>C uc002noj.2 + 4 1558 c.1466T>C c.(1465-1467)TTA>TCA p.L489S ZNF253_uc002nok.2_Missense_Mutation_p.L413S|ZNF253_uc002nol.2_RNA NM_021047 NP_066385 O75346 ZN253_HUMAN zinc finger protein 253 489 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACAGATCTTTTAAATGTTCCT 0.363 NA 18 68 0 0 0 0 ZNF536 9745 broad.mit.edu 37 19 30934639 30934639 + Missense_Mutation SNP A A G TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr19:30934639A>G uc002nsu.1 + 2 308 c.170A>G c.(169-171)GAG>GGG p.E57G ZNF536_uc010edd.1_Missense_Mutation_p.E57G NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 57 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) CCCAACCCCGAGGAGAAGCCC 0.677 NA 21 88 0 0 0 0 SHANK1 50944 broad.mit.edu 37 19 51165265 51165265 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr19:51165265C>T uc002psx.1 - 23 6462 c.6443G>A c.(6442-6444)CGC>CAC p.R2148H SHANK1_uc002psw.1_Missense_Mutation_p.R1532H NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 2148 SAM. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GATGTTCATGCGGTGGCCCAC 0.617 NA 16 108 0 0 0 0 ZNF667 63934 broad.mit.edu 37 19 56952944 56952944 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr19:56952944C>T uc002qnd.2 - 5 1582 c.1420G>A c.(1420-1422)GAG>AAG p.E474K ZNF667_uc010etl.2_Missense_Mutation_p.E256K|ZNF667_uc002qne.2_Missense_Mutation_p.E474K|ZNF667_uc010etm.2_Missense_Mutation_p.E417K NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 474 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) CCACATTCCTCACACTGGTAG 0.398 NA 20 102 0 0 0 0 PEG3 5178 broad.mit.edu 37 19 57325748 57325748 + Missense_Mutation SNP A A T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr19:57325748A>T uc002qnu.2 - 7 4413 c.4062T>A c.(4060-4062)CAT>CAA p.H1354Q ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H1325Q|PEG3_uc002qnv.2_Missense_Mutation_p.H1354Q|PEG3_uc002qnw.2_Missense_Mutation_p.H1230Q|PEG3_uc002qnx.2_Missense_Mutation_p.H1228Q|PEG3_uc010etr.2_Missense_Mutation_p.H1354Q NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1354 Glu-rich.|C2H2-type 10. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTTCTTCCAGATGAAGCTCCT 0.363 NA 23 60 0 0 0 0 ZNF264 9422 broad.mit.edu 37 19 57723539 57723539 + Silent SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr19:57723539C>T uc002qob.2 + 4 1487 c.1074C>T c.(1072-1074)CTC>CTT p.L358L NM_003417 NP_003408 O43296 ZN264_HUMAN zinc finger protein 264 358 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) GGTCATATCTCATGTGGCACC 0.517 NA 25 127 0 0 0 0 ATAD2B 54454 broad.mit.edu 37 2 24009039 24009039 + Nonsense_Mutation SNP A A T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr2:24009039A>T uc002rek.3 - 21 3125 c.2831T>A c.(2830-2832)TTA>TAA p.L944* ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Nonsense_Mutation_p.L189*|ATAD2B_uc002rej.3_Nonsense_Mutation_p.L112* NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 944 Potential. ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGATTCTGATAATTGACGAGG 0.443 NA 9 13 0 0 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530848 80530848 + Missense_Mutation SNP G G C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr2:80530848G>C uc002sok.1 - 2 367 c.97C>G c.(97-99)CCC>GCC p.P33A CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 33 axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GGGGCGGCGGGCAGCATCTGA 0.677 NA HNSCC(69;0.2) 5 20 0 0 0 0 ANKRD36 375248 broad.mit.edu 37 2 97779539 97779539 + Silent SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr2:97779539C>T uc010yva.1 + 1 307 c.63C>T c.(61-63)TTC>TTT p.F21F ANKRD36_uc002sxn.2_Silent_p.F21F|ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_5'UTR|ANKRD36_uc002sxo.2_Silent_p.F21F|ANKRD36_uc002sxp.3_RNA NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 21 0 CGGATGGCTTCGCATTTCCCC 0.512 NA 5 140 0 0 0 0 IWS1 55677 broad.mit.edu 37 2 128244226 128244226 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr2:128244226C>T uc002ton.2 - 13 2534 c.2231G>A c.(2230-2232)GGA>GAA p.G744E NM_017969 NP_060439 Q96ST2 IWS1_HUMAN IWS1 homolog 744 transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) TCCAGGATCTCCAGGTCTAAG 0.507 NA 5 52 0 0 0 0 IWS1 55677 broad.mit.edu 37 2 128263073 128263073 + Missense_Mutation SNP C C G TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr2:128263073C>G uc002ton.2 - 3 709 c.406G>C c.(406-408)GAG>CAG p.E136Q IWS1_uc010yzl.1_RNA|IWS1_uc010fma.2_RNA NM_017969 NP_060439 Q96ST2 IWS1_HUMAN IWS1 homolog 136 Glu-rich. transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) AGAAGTTCCTCATTTTCAGAG 0.483 NA 22 174 0 0 0 0 MBD5 55777 broad.mit.edu 37 2 149247786 149247786 + Nonsense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr2:149247786C>T uc002twm.3 + 12 4874 c.3886C>T c.(3886-3888)CGA>TGA p.R1296* MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Nonsense_Mutation_p.R1296*|MBD5_uc002two.2_Nonsense_Mutation_p.R554*|MBD5_uc002twp.2_Nonsense_Mutation_p.R346* NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1296 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) GAATAGACCTCGACAGAGTCG 0.413 NA 6 44 0 0 0 0 MARCH7 64844 broad.mit.edu 37 2 160605112 160605112 + Missense_Mutation SNP G G C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr2:160605112G>C uc002uax.2 + 5 1433 c.1311G>C c.(1309-1311)CAG>CAC p.Q437H MARCH7_uc010foq.2_Missense_Mutation_p.Q437H|MARCH7_uc010zcn.1_Missense_Mutation_p.Q381H|MARCH7_uc010for.2_Missense_Mutation_p.Q399H|MARCH7_uc002uay.2_RNA NM_022826 NP_073737 Q9H992 MARH7_HUMAN axotrophin 437 ligase activity|zinc ion binding 0 TTGAAGCACAGAATGATCCTC 0.448 NA 5 147 0 0 0 0 SCN9A 6335 broad.mit.edu 37 2 167141152 167141152 + Silent SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr2:167141152C>T uc010fpl.2 - 12 2126 c.1785G>A c.(1783-1785)CAG>CAA p.Q595Q uc002udp.2_Intron|SCN9A_uc002udr.1_Silent_p.Q466Q|SCN9A_uc002uds.1_Silent_p.Q466Q|SCN9A_uc002udt.1_Silent_p.Q466Q NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 595 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TGCGTCGCTCCTGGGGTCTGT 0.537 NA 17 75 0 0 0 0 HOXD3 3232 broad.mit.edu 37 2 177036256 177036256 + Missense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr2:177036256G>A uc002ukt.1 + 3 729 c.553G>A c.(553-555)GAG>AAG p.E185K NM_006898 NP_008829 P31249 HXD3_HUMAN homeobox D3 185 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) AGAGAGCTGCGAGGACAAGAG 0.627 NA 5 33 0 0 0 0 SSFA2 6744 broad.mit.edu 37 2 182765561 182765561 + Missense_Mutation SNP A A G TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr2:182765561A>G uc002uoi.2 + 7 964 c.642A>G c.(640-642)ATA>ATG p.I214M SSFA2_uc002uoh.2_Missense_Mutation_p.I214M|SSFA2_uc002uoj.2_Missense_Mutation_p.I214M|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.I61M|SSFA2_uc002uol.2_Missense_Mutation_p.I61M NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 214 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) CCAAAGGGATAGATATTAAAG 0.308 NA 20 71 0 0 0 0 ITGAV 3685 broad.mit.edu 37 2 187455218 187455218 + Silent SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr2:187455218C>T uc002upq.2 + 1 429 c.153C>T c.(151-153)TTC>TTT p.F51F ITGAV_uc010frs.2_Silent_p.F51F NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 51 FG-GAP 1.|Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) ACTTCGGCTTCGCCGTGGATT 0.637 NA 15 50 0 0 0 0 DNAH7 56171 broad.mit.edu 37 2 196822095 196822095 + Missense_Mutation SNP G G C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr2:196822095G>C uc002utj.3 - 19 3069 c.2968C>G c.(2968-2970)CTG>GTG p.L990V NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 990 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 ATGGGCTCCAGATACAGCCAC 0.483 NA 4 105 0 0 0 0 SATB2 23314 broad.mit.edu 37 2 200246428 200246428 + Missense_Mutation SNP G G C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr2:200246428G>C uc002uuy.1 - 4 1279 c.462C>G c.(460-462)ATC>ATG p.I154M SATB2_uc010fsq.1_Intron|SATB2_uc002uuz.1_Missense_Mutation_p.I154M|SATB2_uc002uva.1_Missense_Mutation_p.I154M NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 154 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 TTTGTAATTGGATTTTCAACG 0.473 NA 5 137 0 0 0 0 C2orf60 129450 broad.mit.edu 37 2 200801155 200801155 + Missense_Mutation SNP G G C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr2:200801155G>C uc002uvi.3 - 6 813 c.547C>G c.(547-549)CGA>GGA p.R183G C2orf60_uc002uvj.3_Missense_Mutation_p.R20G|C2orf60_uc002uvk.3_Intron|C2orf60_uc010fss.2_Missense_Mutation_p.R20G NM_001039693 NP_001034782 A2RUC4 TYW5_HUMAN hypothetical protein LOC129450 183 JmjC. wybutosine biosynthetic process iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding 0 TGGGCATCTCGAGGACTGAAG 0.299 NA 6 213 0 0 0 0 CLK1 1195 broad.mit.edu 37 2 201726073 201726073 + Missense_Mutation SNP T T A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr2:201726073T>A uc002uwe.2 - 3 459 c.278A>T c.(277-279)CAT>CTT p.H93L CLK1_uc010zhi.1_Missense_Mutation_p.H135L|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_5'UTR|CLK1_uc010fsv.2_RNA NM_004071 NP_004062 P49759 CLK1_HUMAN CDC-like kinase 1 isoform 1 93 cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity pancreas(2) 2 CCGGCTTTCATGGTCTCTTTG 0.408 NA 68 226 0 0 0 0 TTLL4 9654 broad.mit.edu 37 2 219602407 219602407 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr2:219602407C>T uc002viy.2 + 3 378 c.8C>T c.(7-9)TCA>TTA p.S3L TTLL4_uc010zkl.1_Intron|TTLL4_uc010fvx.2_Missense_Mutation_p.S3L NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 3 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity ovary(2)|skin(1) 3 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) CTCATGGCCTCAGCAGGAACA 0.572 NA 8 71 0 0 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881860 228881860 + Missense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr2:228881860G>A uc002vpq.2 - 7 3757 c.3710C>T c.(3709-3711)TCG>TTG p.S1237L SPHKAP_uc002vpp.2_Missense_Mutation_p.S1237L|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1237L NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1237 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TGGCATGGACGACTGTCTGTG 0.562 NA 29 133 0 0 0 0 C20orf194 25943 broad.mit.edu 37 20 3321254 3321254 + Missense_Mutation SNP T T C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr20:3321254T>C uc002wii.2 - 10 929 c.878A>G c.(877-879)AAT>AGT p.N293S C20orf194_uc002wij.3_Missense_Mutation_p.N32S|C20orf194_uc002wik.2_5'UTR|C20orf194_uc010gay.1_RNA NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 293 0 TGTGGAGTGATTACCAAAGAG 0.493 NA 8 44 0 0 0 0 FAM83C 128876 broad.mit.edu 37 20 33876620 33876620 + Missense_Mutation SNP T T C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr20:33876620T>C uc010zux.1 - 2 773 c.655A>G c.(655-657)ATG>GTG p.M219V FAM83C_uc002xcb.1_Missense_Mutation_p.M43V NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 219 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) TTGAGGTCCATCTTGTAGCAC 0.642 NA 8 61 0 0 0 0 CEP250 11190 broad.mit.edu 37 20 34054812 34054812 + Missense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr20:34054812G>A uc002xcm.2 + 9 1185 c.514G>A c.(514-516)GGG>AGG p.G172R CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_5'UTR NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 172 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CTACCTGAAAGGGGAGCACGG 0.527 NA 23 98 0 0 0 0 CHAF1B 8208 broad.mit.edu 37 21 37783871 37783871 + Missense_Mutation SNP A A T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr21:37783871A>T uc002yvj.2 + 11 1168 c.1030A>T c.(1030-1032)ATA>TTA p.I344L NM_005441 NP_005432 Q13112 CAF1B_HUMAN chromatin assembly factor 1 subunit B 344 WD 7. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding ovary(1)|skin(1) 2 CGTGTCTAATATACATTACCA 0.537 NA 61 229 0 0 0 0 BAP1 8314 broad.mit.edu 37 3 52437288 52437288 + Missense_Mutation SNP T T G TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr3:52437288T>G uc003ddx.2 - 14 1871 c.1756A>C c.(1756-1758)ATC>CTC p.I586L BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_Intron NM_004656 NP_004647 Q92560 BAP1_HUMAN BRCA1 associated protein-1 586 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1) 65 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) ATTGGTCTGATGGAGGGCGAG 0.597 NA N|Mis|F|S|O uveal melanoma|breast|NSCLC 17 36 0 0 0 0 ARL13B 200894 broad.mit.edu 37 3 93714788 93714788 + Missense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr3:93714788G>A uc003drc.2 + 2 416 c.130G>A c.(130-132)GAA>AAA p.E44K ARL13B_uc010hop.2_Silent_p.E13E|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_5'UTR|ARL13B_uc003drf.2_Missense_Mutation_p.E44K|ARL13B_uc003drg.2_Intron NM_182896 NP_878899 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 2-like 1 isoform 1 44 GTP binding 0 AATCCAAGGAGGTAAGCTGAA 0.299 NA 16 28 0 0 0 0 STX19 415117 broad.mit.edu 37 3 93733390 93733390 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr3:93733390C>T uc003drh.1 - 2 981 c.724G>A c.(724-726)GAA>AAA p.E242K ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron NM_001001850 NP_001001850 Q8N4C7 STX19_HUMAN syntaxin 19 242 t-SNARE coiled-coil homology. intracellular protein transport|vesicle-mediated transport membrane SNAP receptor activity 0 TCTCCTTGTTCCTCTACTAAA 0.318 NA 6 56 0 0 0 0 BBX 56987 broad.mit.edu 37 3 107517519 107517519 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr3:107517519C>T uc010hpr.2 + 16 2830 c.2503C>T c.(2503-2505)CTT>TTT p.L835F BBX_uc003dwk.3_Missense_Mutation_p.L805F|BBX_uc003dwl.3_Silent_p.T498T|BBX_uc003dwm.3_Missense_Mutation_p.L805F|BBX_uc003dwo.3_Silent_p.T154T NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 835 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) GATTACACACCTTGTCAGGAC 0.398 NA 3 70 0 0 0 0 LSAMP 4045 broad.mit.edu 37 3 115529219 115529219 + Missense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr3:115529219G>A uc003ebt.2 - 7 1462 c.962C>T c.(961-963)GCC>GTC p.A321V LSAMP_uc011bis.1_Missense_Mutation_p.A344V NM_002338 NP_002329 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 321 cell adhesion|nervous system development anchored to membrane|plasma membrane 0 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) CAGTGGTACGGCCAGACTGAT 0.423 NA 13 21 0 0 0 0 ATP2C1 27032 broad.mit.edu 37 3 130718428 130718428 + Missense_Mutation SNP A A C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr3:130718428A>C uc003enl.2 + 27 2776 c.2554A>C c.(2554-2556)ATC>CTC p.I852L ATP2C1_uc011blg.1_Missense_Mutation_p.I886L|ATP2C1_uc011blh.1_Missense_Mutation_p.I847L|ATP2C1_uc011bli.1_Missense_Mutation_p.I886L|ATP2C1_uc003enk.2_Missense_Mutation_p.I836L|ATP2C1_uc003enm.2_Missense_Mutation_p.I852L|ATP2C1_uc003enn.2_Missense_Mutation_p.I836L|ATP2C1_uc003eno.2_Missense_Mutation_p.I852L|ATP2C1_uc003enp.2_Missense_Mutation_p.I852L|ATP2C1_uc003enq.2_Missense_Mutation_p.I852L|ATP2C1_uc003enr.2_Missense_Mutation_p.I852L|ATP2C1_uc003ens.2_Missense_Mutation_p.I852L|ATP2C1_uc003ent.2_Missense_Mutation_p.I852L|ATP2C1_uc003enu.2_Missense_Mutation_p.I530L NM_014382 NP_055197 P98194 AT2C1_HUMAN calcium-transporting ATPase 2C1 isoform 1a 852 Helical; Name=9; (By similarity). actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity skin(1) 1 Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236) TCTTGGATCCATCATGGGACA 0.393 NA Hailey-Hailey_disease 21 123 0 0 0 0 AADACL2 344752 broad.mit.edu 37 3 151451836 151451836 + Missense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr3:151451836G>A uc003ezc.2 + 1 133 c.13G>A c.(13-15)GCT>ACT p.A5T AADACL2_uc010hvn.2_5'UTR NM_207365 NP_997248 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 precursor 5 extracellular region|integral to membrane carboxylesterase activity 0 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) GGGGCTAAAAGCTCTCTGTTT 0.383 NA 4 45 0 0 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198764 170198764 + Missense_Mutation SNP T T C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr3:170198764T>C uc003fgz.2 - 7 1623 c.1307A>G c.(1306-1308)GAC>GGC p.D436G CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN solute carrier family 7 (cationic amino acid 436 integral to membrane amino acid transmembrane transporter activity ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1) 5 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) ACCATCAATGTCACTCTCAGG 0.498 NA 18 115 0 0 0 0 TNIK 23043 broad.mit.edu 37 3 170802049 170802049 + Missense_Mutation SNP C C A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr3:170802049C>A uc003fhh.2 - 26 3409 c.3064G>T c.(3064-3066)GTG>TTG p.V1022L TNIK_uc003fhi.2_Missense_Mutation_p.V967L|TNIK_uc003fhj.2_Missense_Mutation_p.V993L|TNIK_uc003fhk.2_Missense_Mutation_p.V1014L|TNIK_uc003fhl.2_Missense_Mutation_p.V938L|TNIK_uc003fhm.2_Missense_Mutation_p.V959L|TNIK_uc003fhn.2_Missense_Mutation_p.V985L|TNIK_uc003fho.2_Missense_Mutation_p.V930L|TNIK_uc003fhg.2_Missense_Mutation_p.V200L|TNIK_uc003fhp.2_5'Flank NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 1022 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) ACATTTACCACCGAAATCTTT 0.403 NA 12 190 0.00136819 0.00144366 1 0 ECT2 1894 broad.mit.edu 37 3 172482216 172482216 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr3:172482216C>T uc003fii.2 + 11 1262 c.1124C>T c.(1123-1125)TCA>TTA p.S375L ECT2_uc010hwv.1_Missense_Mutation_p.S406L|ECT2_uc003fih.2_Missense_Mutation_p.S374L|ECT2_uc003fij.1_Missense_Mutation_p.S375L|ECT2_uc003fik.1_Missense_Mutation_p.S375L|ECT2_uc003fil.1_Missense_Mutation_p.S406L NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 375 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|ovary(1)|skin(1) 4 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) AAGCGCCCATCAGCTGAGCAT 0.453 NA 6 191 0 0 0 0 MAP3K13 9175 broad.mit.edu 37 3 185191117 185191117 + Silent SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr3:185191117C>T uc010hyf.2 + 12 2264 c.1998C>T c.(1996-1998)TGC>TGT p.C666C MAP3K13_uc011brt.1_Silent_p.C459C|MAP3K13_uc011bru.1_Silent_p.C522C|MAP3K13_uc003fpi.2_Silent_p.C666C|MAP3K13_uc010hyg.2_Silent_p.C356C NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 666 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) TAGCAACCTGCGCCAACAACC 0.587 NA 123 173 0 0 0 0 LPP 4026 broad.mit.edu 37 3 188590462 188590462 + Nonsense_Mutation SNP G G T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr3:188590462G>T uc003frs.1 + 10 1867 c.1621G>T c.(1621-1623)GAG>TAG p.E541* LPP_uc011bsg.1_Nonsense_Mutation_p.E394*|LPP_uc011bsi.1_Nonsense_Mutation_p.E541*|LPP_uc011bsj.1_Nonsense_Mutation_p.E378* NM_005578 NP_005569 Q93052 LPP_HUMAN LIM domain containing preferred translocation 541 LIM zinc-binding 3. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1) 165 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) TGTGTGCAAGGAGCCTATTAT 0.532 NA T HMGA2|MLL|C12orf9 lipoma|leukemia 9 154 2.81e-09 3.2e-09 1 0 TP63 8626 broad.mit.edu 37 3 189526287 189526287 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr3:189526287C>T uc003fry.2 + 4 640 c.551C>T c.(550-552)TCG>TTG p.S184L TP63_uc003frx.2_Missense_Mutation_p.S184L|TP63_uc003frz.2_Missense_Mutation_p.S184L|TP63_uc010hzc.1_Missense_Mutation_p.S184L|TP63_uc003fsa.2_Missense_Mutation_p.S90L|TP63_uc003fsb.2_Missense_Mutation_p.S90L|TP63_uc003fsc.2_Missense_Mutation_p.S90L|TP63_uc003fsd.2_Missense_Mutation_p.S90L|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.S65L NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 184 S -> L (in head and neck cancer). anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TTCCAGCAGTCGAGCACCGCC 0.627 NA Hay-Wells_syndrome HNSCC(45;0.13) 19 108 0 0 0 0 CXXC4 80319 broad.mit.edu 37 4 105412204 105412204 + Missense_Mutation SNP G G C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr4:105412204G>C uc003hxg.2 - 1 264 c.249C>G c.(247-249)ATC>ATG p.I83M uc003hxh.1_RNA|CXXC4_uc010ilo.2_Intron NM_025212 NP_079488 Q9H2H0 CXXC4_HUMAN CXXC finger 4 83 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) CTGTCATGACGATGACCCCTG 0.577 NA 27 110 0 0 0 0 NDST4 64579 broad.mit.edu 37 4 115767138 115767138 + Silent SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr4:115767138G>A uc003ibu.2 - 10 2635 c.1956C>T c.(1954-1956)TTC>TTT p.F652F NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 652 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ATGGTGTAGGGAAAAAGTCCA 0.358 NA 15 56 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126402801 126402801 + Missense_Mutation SNP G G T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr4:126402801G>T uc003ifj.3 + 15 12724 c.12724G>T c.(12724-12726)GGT>TGT p.G4242C FAT4_uc011cgp.1_Missense_Mutation_p.G2483C|FAT4_uc003ifi.1_Missense_Mutation_p.G1720C NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4242 Laminin G-like 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GGAGCCTTTTGGTGTGAACAG 0.433 NA 16 74 1.57e-10 1.8e-10 1 0 SH3RF1 57630 broad.mit.edu 37 4 170042098 170042098 + Silent SNP T T C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr4:170042098T>C uc003isa.1 - 8 1724 c.1389A>G c.(1387-1389)GAA>GAG p.E463E SH3RF1_uc010irc.1_Silent_p.E163E NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 463 SH3 3.|Interaction with AKT2 (By similarity). Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding breast(2)|lung(1) 3 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) TCAGCTCTAGTTCATCCTCTT 0.418 NA 26 73 0 0 0 0 GLRA3 8001 broad.mit.edu 37 4 175710093 175710093 + Silent SNP A A G rs144360619 TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr4:175710093A>G uc003ity.1 - 2 576 c.73T>C c.(73-75)TTG>CTG p.L25L GLRA3_uc003itz.1_Silent_p.L25L NM_006529 NP_006520 O75311 GLRA3_HUMAN glycine receptor, alpha 3 isoform a 25 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(3) 3 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) GTGGCAACCAAACTACAAATA 0.323 NA 7 38 0 0 0 0 MCCC2 64087 broad.mit.edu 37 5 70930987 70930987 + Missense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr5:70930987G>A uc003kbs.3 + 10 1051 c.913G>A c.(913-915)GAA>AAA p.E305K MCCC2_uc010iyv.1_Missense_Mutation_p.E305K|MCCC2_uc003kbt.3_RNA|MCCC2_uc003kbu.1_Missense_Mutation_p.E174K NM_022132 NP_071415 Q9HCC0 MCCB_HUMAN methylcrotonoyl-Coenzyme A carboxylase 2 (beta) 305 Carboxyltransferase. leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|methylcrotonoyl-CoA carboxylase activity ovary(1) 1 Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.04e-54) Biotin(DB00121) GGTCACCATTGAACCTTCTGA 0.373 NA 9 92 0 0 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79738953 79738953 + Missense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr5:79738953G>A uc003kgr.3 + 6 2733 c.2431G>A c.(2431-2433)GAA>AAA p.E811K ZFYVE16_uc003kgp.2_Missense_Mutation_p.E811K|ZFYVE16_uc003kgq.3_Missense_Mutation_p.E811K|ZFYVE16_uc003kgs.3_Missense_Mutation_p.E811K|ZFYVE16_uc003kgt.3_5'UTR NM_001105251 NP_001098721 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 811 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TCAGGCATTTGAAAGGATGAT 0.338 NA 26 143 0 0 0 0 APC 324 broad.mit.edu 37 5 112173950 112173950 + Missense_Mutation SNP A A T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr5:112173950A>T uc010jby.2 + 16 3039 c.2659A>T c.(2659-2661)ATT>TTT p.I887F APC_uc011cvt.1_Missense_Mutation_p.I869F|APC_uc003kpz.3_Missense_Mutation_p.I887F|APC_uc003kpy.3_Missense_Mutation_p.I887F|APC_uc010jbz.2_Missense_Mutation_p.I604F|APC_uc010jca.2_Missense_Mutation_p.I187F NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 887 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TGCAGCCCAGATTGCCAAAGT 0.468 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 16 46 0 0 0 0 MCC 4163 broad.mit.edu 37 5 112458453 112458453 + Nonsense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr5:112458453G>A uc003kqj.3 - 4 915 c.385C>T c.(385-387)CGA>TGA p.R129* MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Nonsense_Mutation_p.R319*|MCC_uc011cwb.1_Nonsense_Mutation_p.R129*|MCC_uc010jcd.1_Nonsense_Mutation_p.R91* NM_002387 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers isoform 2 129 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) TCCATGCTTCGAGAGTCCTCG 0.522 NA 6 60 0 0 0 0 SLC12A2 6558 broad.mit.edu 37 5 127420048 127420048 + Missense_Mutation SNP A A T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr5:127420048A>T uc003kus.2 + 1 566 c.402A>T c.(400-402)GAA>GAT p.E134D FLJ33630_uc003kun.2_5'Flank|FLJ33630_uc003kuo.2_5'Flank|FLJ33630_uc003kup.1_5'Flank|FLJ33630_uc003kuq.1_5'Flank|FLJ33630_uc003kur.2_5'Flank|SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.E134D NM_001046 NP_001037 P55011 S12A2_HUMAN solute carrier family 12 134 Cytoplasmic (Potential). potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity ovary(3) 3 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCAGCGAGGAAGCCAAGGGCC 0.637 NA 3 9 0 0 0 0 NEUROG1 4762 broad.mit.edu 37 5 134870804 134870804 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr5:134870804C>T uc003lax.2 - 1 836 c.577G>A c.(577-579)GCC>ACC p.A193T NM_006161 NP_006152 Q92886 NGN1_HUMAN neurogenin 1 193 positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter nucleus chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGCGGGGAGGCGGCGGCGGCA 0.721 NA 14 32 0 0 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167198 140167198 + Silent SNP G G T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr5:140167198G>T uc003lhb.2 + 1 1323 c.1323G>T c.(1321-1323)GTG>GTT p.V441V PCDHA1_uc003lha.2_Silent_p.V441V|PCDHA1_uc003lgz.2_Silent_p.V441V NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 441 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGCCAGGGTGTCCGTGGAGG 0.662 NA 7 124 1.13e-05 1.23e-05 1 0 TFAP2A 7020 broad.mit.edu 37 6 10404781 10404781 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr6:10404781C>T uc003myr.2 - 4 976 c.724G>A c.(724-726)GAG>AAG p.E242K TFAP2A_uc003myq.2_Missense_Mutation_p.E236K|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Missense_Mutation_p.E242K|TFAP2A_uc003myt.2_Missense_Mutation_p.E238K|TFAP2A_uc003myu.1_Missense_Mutation_p.E242K NM_003220 NP_003211 P05549 AP2A_HUMAN transcription factor AP-2 alpha isoform a 242 ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding ovary(1) 1 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) TTGAGACACTCGGGTGGTGAG 0.507 NA 6 11 0 0 0 0 HSPA1L 3305 broad.mit.edu 37 6 31778584 31778584 + Missense_Mutation SNP T T C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr6:31778584T>C uc003nxh.2 - 2 1349 c.1166A>G c.(1165-1167)AAG>AGG p.K389R HSPA1L_uc010jte.2_Missense_Mutation_p.K389R NM_005527 NP_005518 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 389 response to unfolded protein ATP binding ovary(3)|pleura(1)|kidney(1)|skin(1) 6 GTCCTGTACCTTCTCAGACTT 0.587 NA 16 71 0 0 0 0 EPHA7 2045 broad.mit.edu 37 6 94120846 94120846 + Nonsense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr6:94120846G>A uc003poe.2 - 3 446 c.205C>T c.(205-207)CGA>TGA p.R69* EPHA7_uc003pof.2_Nonsense_Mutation_p.R69*|EPHA7_uc011eac.1_Nonsense_Mutation_p.R69*|EPHA7_uc003pog.3_Nonsense_Mutation_p.R69* NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 69 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity p.R69Q(1) lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TGGTATGTTCGTATCGGGGTA 0.393 NA 31 99 0 0 0 0 ROS1 6098 broad.mit.edu 37 6 117630083 117630083 + Missense_Mutation SNP C C A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr6:117630083C>A uc003pxp.1 - 41 6642 c.6443G>T c.(6442-6444)GGA>GTA p.G2148V ROS1_uc011ebi.1_RNA NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 2148 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AATCAGAATTCCAAAAGACCT 0.393 NA T GOPC|ROS1 glioblastoma|NSCLC 13 53 6.32e-08 7.11e-08 1 0 SLC2A12 154091 broad.mit.edu 37 6 134323170 134323170 + Nonsense_Mutation SNP G G T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr6:134323170G>T uc003qem.1 - 4 1836 c.1665C>A c.(1663-1665)TGC>TGA p.C555* NM_145176 NP_660159 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose 555 Cytoplasmic (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity ovary(1) 1 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) GTTCCAAAGAGCATCCCTTTG 0.363 NA 16 67 1.36e-06 1.51e-06 1 0 HIVEP2 3097 broad.mit.edu 37 6 143081528 143081528 + Missense_Mutation SNP G G T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr6:143081528G>T uc003qjd.2 - 9 6640 c.5897C>A c.(5896-5898)TCT>TAT p.S1966Y NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 1966 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GATCAACGAAGAATGTCCCAG 0.483 NA 35 115 4.32e-19 5.12e-19 1 0 SNX8 29886 broad.mit.edu 37 7 2296595 2296595 + Missense_Mutation SNP C C G TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr7:2296595C>G uc003slw.2 - 10 1241 c.1198G>C c.(1198-1200)GAG>CAG p.E400Q NM_013321 NP_037453 Q9Y5X2 SNX8_HUMAN sorting nexin 8 400 cell communication|early endosome to Golgi transport|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding large_intestine(1)|ovary(1) 2 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14) AGCTGCGTCTCCTGGTGCAGG 0.622 NA 4 29 0 0 0 0 SKAP2 8935 broad.mit.edu 37 7 26779555 26779555 + Silent SNP T T C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr7:26779555T>C uc003syc.2 - 5 629 c.336A>G c.(334-336)CAA>CAG p.Q112Q SKAP2_uc011jzi.1_5'UTR|SKAP2_uc011jzj.1_Silent_p.Q97Q NM_003930 NP_003921 O75563 SKAP2_HUMAN src kinase associated phosphoprotein 2 112 B cell activation|cell junction assembly|protein complex assembly|signal transduction cytosol|plasma membrane SH3/SH2 adaptor activity pancreas(1) 1 AAGGAAGGTCTTGTGCTGCAA 0.378 NA 11 45 0 0 0 0 FIGNL1 63979 broad.mit.edu 37 7 50513222 50513222 + Silent SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr7:50513222G>A uc003tpc.2 - 4 2141 c.1764C>T c.(1762-1764)CTC>CTT p.L588L FIGNL1_uc003tpb.2_Silent_p.L477L|FIGNL1_uc003tpd.2_Silent_p.L588L|FIGNL1_uc003tpe.2_Silent_p.L588L|FIGNL1_uc010kyy.2_Silent_p.L588L NM_001042762 NP_001036227 Q6PIW4 FIGL1_HUMAN fidgetin-like 1 588 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity ovary(3) 3 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) CTTCTTCACTGAGGCAACACT 0.453 NA 15 118 0 0 0 0 SEMA3C 10512 broad.mit.edu 37 7 80439970 80439970 + Silent SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr7:80439970G>A uc003uhj.2 - 6 1057 c.495C>T c.(493-495)CGC>CGT p.R165R SEMA3C_uc011kgw.1_Silent_p.R183R|SEMA3C_uc011kgx.1_Silent_p.R17R NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 165 Sema. immune response|response to drug membrane receptor activity ovary(1) 1 TGAAAGAGCAGCGTCCTTTTC 0.353 NA 21 128 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82583457 82583457 + Missense_Mutation SNP G G T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr7:82583457G>T uc003uhx.2 - 5 7101 c.6812C>A c.(6811-6813)TCT>TAT p.S2271Y PCLO_uc003uhv.2_Missense_Mutation_p.S2271Y|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2202 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TATGATAGAAGATGCCATATC 0.408 NA 25 84 6.36e-07 7.11e-07 1 0 ASNS 440 broad.mit.edu 37 7 97482673 97482673 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr7:97482673C>T uc003uot.3 - 11 1770 c.1264G>A c.(1264-1266)GAT>AAT p.D422N ASNS_uc011kin.1_Missense_Mutation_p.D339N|ASNS_uc003uou.3_Missense_Mutation_p.D422N|ASNS_uc003uov.3_Missense_Mutation_p.D422N|ASNS_uc011kio.1_Missense_Mutation_p.D401N|ASNS_uc003uow.3_Missense_Mutation_p.D401N|ASNS_uc003uox.3_Missense_Mutation_p.D339N NM_133436 NP_597680 P08243 ASNS_HUMAN asparagine synthetase 422 Asparagine synthetase. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AATCGATGATCTAGAAATGGG 0.368 NA 26 69 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100682001 100682001 + Missense_Mutation SNP G G C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr7:100682001G>C uc003uxp.1 + 3 7357 c.7304G>C c.(7303-7305)AGT>ACT p.S2435T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2435 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|39. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ACTGAAGCCAGTTCATCTCCT 0.547 NA 22 474 0 0 0 0 RP1L1 94137 broad.mit.edu 37 8 10467546 10467546 + Silent SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr8:10467546C>T uc003wtc.2 - 4 4291 c.4062G>A c.(4060-4062)GCG>GCA p.A1354A NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1354 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) cctctaactgcgcctcttctt 0.179 NA 34 90 0 0 0 0 COL14A1 7373 broad.mit.edu 37 8 121210093 121210093 + Missense_Mutation SNP G G C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr8:121210093G>C uc003yox.2 + 7 901 c.636G>C c.(634-636)TTG>TTC p.L212F COL14A1_uc003yoy.2_5'UTR|COL14A1_uc010mde.1_Intron NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 212 VWFA 1. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AATGGCACTTGAATGCATTTA 0.388 NA 15 119 0 0 0 0 COL22A1 169044 broad.mit.edu 37 8 139696679 139696679 + Missense_Mutation SNP G G T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr8:139696679G>T uc003yvd.2 - 39 3448 c.3001C>A c.(3001-3003)CTA>ATA p.L1001I COL22A1_uc011ljo.1_Missense_Mutation_p.L301I NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1001 Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TTGGTTCCTAGGGGTCCAGGG 0.488 NA HNSCC(7;0.00092) 52 264 6.21e-19 7.31e-19 1 0 SMARCA2 6595 broad.mit.edu 37 9 2086844 2086844 + Missense_Mutation SNP A A T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr9:2086844A>T uc003zhc.2 + 18 2641 c.2542A>T c.(2542-2544)ATG>TTG p.M848L SMARCA2_uc003zhd.2_Missense_Mutation_p.M848L|SMARCA2_uc010mha.2_Missense_Mutation_p.M839L NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 848 Helicase ATP-binding. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) GTGGAAATACATGATAGTGGA 0.478 NA 26 104 0 0 0 0 RFX3 5991 broad.mit.edu 37 9 3293119 3293119 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr9:3293119C>T uc003zhr.2 - 7 1001 c.689G>A c.(688-690)AGA>AAA p.R230K RFX3_uc010mhd.2_Missense_Mutation_p.R230K|RFX3_uc003zhs.1_Missense_Mutation_p.R230K|RFX3_uc003zht.1_Missense_Mutation_p.R230K|RFX3_uc010mhe.1_Missense_Mutation_p.R205K NM_134428 NP_602304 P48380 RFX3_HUMAN regulatory factor X3 isoform b 230 RFX-type winged-helix. cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) AAAAATTGATCTTATTAATTT 0.408 NA 19 91 0 0 0 0 KIAA1432 57589 broad.mit.edu 37 9 5713936 5713936 + Missense_Mutation SNP G G C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr9:5713936G>C uc003zji.2 + 3 229 c.136G>C c.(136-138)GAA>CAA p.E46Q KIAA1432_uc003zjh.2_Missense_Mutation_p.E46Q|KIAA1432_uc003zjl.3_Missense_Mutation_p.E46Q|KIAA1432_uc003zjj.1_5'UTR NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 125 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TTTTAAGGAAGAACAGTGTGC 0.393 NA 16 73 0 0 0 0 PTPRD 5789 broad.mit.edu 37 9 8633337 8633337 + Missense_Mutation SNP G G T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr9:8633337G>T uc003zkk.2 - 13 1043 c.332C>A c.(331-333)ACC>AAC p.T111N PTPRD_uc003zkp.2_Missense_Mutation_p.T111N|PTPRD_uc003zkq.2_Missense_Mutation_p.T111N|PTPRD_uc003zkr.2_Missense_Mutation_p.T111N|PTPRD_uc003zks.2_Missense_Mutation_p.T111N|PTPRD_uc003zkl.2_Missense_Mutation_p.T111N|PTPRD_uc003zkm.2_Missense_Mutation_p.T111N|PTPRD_uc003zkn.2_Missense_Mutation_p.T111N|PTPRD_uc003zko.2_Missense_Mutation_p.T111N|PTPRD_uc003zkt.1_Missense_Mutation_p.T111N NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 111 Ig-like C2-type 1.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TGTGAGTCTGGTGGATACACT 0.423 NA TSP Lung(15;0.13) 34 108 6.97e-18 8.16e-18 1 0 UNC13B 10497 broad.mit.edu 37 9 35403770 35403770 + Missense_Mutation SNP G G A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr9:35403770G>A uc003zwq.2 + 39 4808 c.4516G>A c.(4516-4518)GAG>AAG p.E1506K UNC13B_uc003zwr.2_Missense_Mutation_p.E1525K|ATP8B5P_uc010mkn.1_5'Flank|ATP8B5P_uc010mko.2_5'Flank|ATP8B5P_uc010mkp.2_5'Flank|ATP8B5P_uc003zwu.2_5'Flank NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 1506 C2 3. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GGAGGGGCCCGAGTCCTATGA 0.552 NA 18 54 0 0 0 0 FRMD3 257019 broad.mit.edu 37 9 86153021 86153021 + Silent SNP C C A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr9:86153021C>A uc004ams.1 - 1 328 c.126G>T c.(124-126)TCG>TCT p.S42S FRMD3_uc004amr.1_Silent_p.S28S NM_174938 NP_777598 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 42 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding ovary(1)|central_nervous_system(1) 2 AGGAGATCTCCGAGTCGTCCA 0.652 NA 6 30 0.00116845 0.00123586 1 0 ZNF883 169834 broad.mit.edu 37 9 115760233 115760233 + Nonsense_Mutation SNP C C A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr9:115760233C>A uc011lwy.1 - 5 1546 c.307G>T c.(307-309)GAA>TAA p.E103* NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN hypothetical protein LOC169834 103 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAGGTTTTTTCACATTCATTA 0.378 NA 13 62 9.31e-06 1.02e-05 1 0 OR1L4 254973 broad.mit.edu 37 9 125486771 125486771 + Missense_Mutation SNP C C G TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr9:125486771C>G uc004bmu.1 + 1 503 c.503C>G c.(502-504)TCT>TGT p.S168C NM_001005235 NP_001005235 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, 168 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCTCGCTTGTCTTTCTGTGCC 0.498 NA 20 305 0 0 0 0 NUP214 8021 broad.mit.edu 37 9 134010311 134010311 + Missense_Mutation SNP A A G TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr9:134010311A>G uc004cag.2 + 8 969 c.858A>G c.(856-858)ATA>ATG p.I286M NUP214_uc004cah.2_Missense_Mutation_p.I286M|NUP214_uc004caf.1_Missense_Mutation_p.I286M NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 286 carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) ACCCAGAGATATTTGTGAACT 0.398 NA T DEK|SET|ABL1 AML|T-ALL 13 73 0 0 0 0 SETX 23064 broad.mit.edu 37 9 135140296 135140296 + Missense_Mutation SNP T T C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr9:135140296T>C uc004cbk.2 - 26 7547 c.7364A>G c.(7363-7365)TAT>TGT p.Y2455C SETX_uc004cbj.2_Missense_Mutation_p.Y2103C|SETX_uc010mzt.2_Missense_Mutation_p.Y2041C NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 2455 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) ATCATGTCTATAGTTTTTGTC 0.478 NA 58 117 0 0 0 0 KIAA0649 9858 broad.mit.edu 37 9 138377934 138377934 + Silent SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr9:138377934C>T uc004cfr.1 + 4 2127 c.1578C>T c.(1576-1578)AGC>AGT p.S526S NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 526 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) GCGACAGTAGCTCCGTGGACA 0.627 NA 6 200 0 0 0 0 FAM123B 139285 broad.mit.edu 37 X 63411781 63411781 + Silent SNP T T C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chrX:63411781T>C uc004dvo.2 - 2 1659 c.1386A>G c.(1384-1386)GAA>GAG p.E462E NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 462 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 TGGGGGCGGATTCTTGCTGGT 0.547 NA 15 23 0 0 0 0 HDX 139324 broad.mit.edu 37 X 83599378 83599378 + Missense_Mutation SNP G G C TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chrX:83599378G>C uc004eek.1 - 6 1649 c.1540C>G c.(1540-1542)CAG>GAG p.Q514E HDX_uc011mqv.1_Missense_Mutation_p.Q514E|HDX_uc004eel.1_Missense_Mutation_p.Q456E NM_144657 NP_653258 Q7Z353 HDX_HUMAN highly divergent homeobox 514 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1) 2 GACTCAGGCTGCTCAGAGAAA 0.448 NA 24 25 0 0 0 0 CPXCR1 53336 broad.mit.edu 37 X 88008565 88008565 + Missense_Mutation SNP C C A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chrX:88008565C>A uc004efd.3 + 3 409 c.150C>A c.(148-150)AAC>AAA p.N50K CPXCR1_uc004efc.3_Missense_Mutation_p.N50K NM_033048 NP_149037 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 50 intracellular zinc ion binding ovary(3) 3 ACCCAATAAACAGGGAGCCAG 0.443 NA 7 7 0.00198382 0.00208325 1 0 ESX1 80712 broad.mit.edu 37 X 103498950 103498950 + Missense_Mutation SNP C C T TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chrX:103498950C>T uc004ely.2 - 2 449 c.391G>A c.(391-393)GAG>AAG p.E131K NM_153448 NP_703149 Q8N693 ESX1_HUMAN extraembryonic, spermatogenesis, homeobox 131 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TGTGGTCCCTCAGCGGTTTGT 0.647 NA 4 27 0 0 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128881676 128881676 + Missense_Mutation SNP A A G TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chrX:128881676A>G uc004eut.1 + 7 828 c.584A>G c.(583-585)GAG>GGG p.E195G XPNPEP2_uc011mum.1_Missense_Mutation_p.E195G NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound 195 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 TGGGGATCAGAGAGGCCACCG 0.522 NA 18 35 0 0 0 0 PPCS 79717 broad.mit.edu 37 1 42925463 42925463 + Frame_Shift_Del DEL T T - TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:42925463delT uc001chl.2 + 3 866 c.802delT c.(802-804)TTTfs p.F268fs PPCS_uc001chk.2_Frame_Shift_Del_p.F95fs NM_024664 NP_078940 Q9HAB8 PPCS_HUMAN phosphopantothenoylcysteine synthetase isoform 268 coenzyme biosynthetic process|pantothenate metabolic process cytosol phosphopantothenate--cysteine ligase activity 0 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GTCCTTTGTGTTTATTGTAAC 0.408 NA 26 203 --- --- --- --- NA NA NA NA TMEM63A 9725 broad.mit.edu 37 1 226047034 226047035 + Frame_Shift_Ins INS - - A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr1:226047034_226047035insA uc001hpm.1 - 15 1488_1489 c.1238_1239insT c.(1237-1239)ATCfs p.I413fs NM_014698 NP_055513 O94886 TM63A_HUMAN transmembrane protein 63A 413 integral to membrane|lysosomal membrane nucleotide binding ovary(1)|breast(1) 2 Breast(184;0.197) GGAGGCCCTGGATAGAGAGGTT 0.574 NA 10 72 --- --- --- --- NA NA NA NA FHOD1 29109 broad.mit.edu 37 16 67271255 67271256 + Frame_Shift_Ins INS - - GGAGTCC TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr16:67271255_67271256insGGAGTCC uc002esl.2 - 9 991_992 c.879_880insGGACTCC c.(877-882)TCCTTCfs p.S293fs FHOD1_uc010ced.2_Frame_Shift_Ins_p.S100fs|FHOD1_uc010vjh.1_5'UTR NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 293_294 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) ACATCGTAGAAGGAGTCCTGGT 0.663 NA 10 93 --- --- --- --- NA NA NA NA ARHGEF18 23370 broad.mit.edu 37 19 7535174 7535176 + In_Frame_Del DEL TCT TCT - TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr19:7535174_7535176delTCT uc002mgi.2 + 19 3765_3767 c.3512_3514delTCT c.(3511-3516)ATCTTC>ATC p.F1173del ARHGEF18_uc010xjm.1_In_Frame_Del_p.F1015del|ARHGEF18_uc002mgh.2_In_Frame_Del_p.F1015del|ARHGEF18_uc002mgj.1_In_Frame_Del_p.F810del NM_001130955 NP_001124427 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor 18 1173 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity ovary(1) 1 Renal(5;0.0902) GAAGACGTCATCTTCTTCTAAAA 0.675 NA 18 60 --- --- --- --- NA NA NA NA FBXO11 80204 broad.mit.edu 37 2 48035326 48035327 + Frame_Shift_Ins INS - - GG TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr2:48035326_48035327insGG uc010fbl.2 - 23 2576_2577 c.2462_2463insCC c.(2461-2463)CCTfs p.P821fs FBXO11_uc002rwe.2_Frame_Shift_Ins_p.P821fs|FBXO11_uc010fbk.2_Frame_Shift_Ins_p.P329fs NM_025133 NP_079409 Q86XK2 FBX11_HUMAN F-box only protein 11 isoform 1 905 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TATCATGTGTAGGCTCACCAGC 0.401 NA 36 142 --- --- --- --- NA NA NA NA HAVCR2 84868 broad.mit.edu 37 5 156522408 156522434 + In_Frame_Del DEL AGAGTCCCGTAAGTCATTGGCCAATCT AGAGTCCCGTAAGTCATTGGCCAATCT - TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr5:156522408_156522434delAGAGTCCCGTAAGTCATTGGCCAATCT uc003lwk.1 - 5 703_729 c.559_585delAGATTGGCCAATGACTTACGGGACTCT c.(559-585)AGATTGGCCAATGACTTACGGGACTCTdel p.RLANDLRDS187del NM_032782 NP_116171 Q8TDQ0 HAVR2_HUMAN T cell immunoglobulin mucin 3 precursor 187_195 Extracellular (Potential). integral to membrane 0 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGGTTGCTCCAGAGTCCCGTAAGTCATTGGCCAATCTAGAGTCCCGT 0.445 NA 16 117 --- --- --- --- NA NA NA NA TBRG4 9238 broad.mit.edu 37 7 45148633 45148634 + Frame_Shift_Ins INS - - A TCGA-CN-5364-01A-01D-1434-08 TCGA-CN-5364-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 22078e53-2c9e-4ae4-a166-34488f259ee8 61c617cf-d908-481e-ad7e-868408ce8e2c g.chr7:45148633_45148634insA uc003tmv.2 - 2 329_330 c.203_204insT c.(202-204)ATAfs p.I68fs TBRG4_uc003tmu.2_5'Flank|TBRG4_uc003tmw.2_Frame_Shift_Ins_p.I68fs|TBRG4_uc003tmx.2_Frame_Shift_Ins_p.I68fs|TBRG4_uc011kcd.1_Frame_Shift_Ins_p.I79fs|SNORA5B_uc003tna.3_5'Flank NM_004749 NP_004740 Q969Z0 TBRG4_HUMAN cell cycle progression 2 protein isoform 1 68 apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity 0 CCTGCTTCTCTATGTAGGGAGT 0.554 NA 34 108 --- --- --- --- NA NA NA NA