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 CD52 1043 broad.mit.edu 37 1 26644515 26644515 + Missense_Mutation SNP C C T rs141117966 byFrequency TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr1:26644515C>T uc001bmc.2 + 1 105 c.7C>T c.(7-9)CGC>TGC p.R3C UBXN11_uc001bma.2_Intron|CD52_uc009vsg.1_RNA NM_001803 NP_001794 P31358 CD52_HUMAN CD52 antigen precursor 3 elevation of cytosolic calcium ion concentration|respiratory burst anchored to membrane|integral to plasma membrane|membrane fraction 0 all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649) Alemtuzumab(DB00087) CAAAATGAAGCGCTTCCTCTT 0.512 NA 41 109 0 0 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26888041 26888041 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr1:26888041C>T uc001bmr.1 + 17 1640 c.1477C>T c.(1477-1479)CGG>TGG p.R493W RPS6KA1_uc010ofe.1_Missense_Mutation_p.R401W|RPS6KA1_uc010off.1_Missense_Mutation_p.R477W|RPS6KA1_uc001bms.1_Missense_Mutation_p.R502W|RPS6KA1_uc009vsl.1_Missense_Mutation_p.R336W NM_002953 NP_002944 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 493 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) AGAGCTGATGCGGGGTGGGGA 0.572 NA 8 211 0 0 0 0 EIF3I 8668 broad.mit.edu 37 1 32694413 32694413 + Missense_Mutation SNP A A G TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr1:32694413A>G uc001bur.3 + 9 1258 c.725A>G c.(724-726)GAC>GGC p.D242G EIF3I_uc009vuc.2_Missense_Mutation_p.D242G|EIF3I_uc001bus.2_Missense_Mutation_p.D194G NM_003757 NP_003748 Q13347 EIF3I_HUMAN eukaryotic translation initiation factor 3, 242 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) CCCAACTATGACCATGTAAGA 0.507 NA 96 319 0 0 0 0 AK2 204 broad.mit.edu 37 1 33480136 33480136 + Missense_Mutation SNP G G C TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr1:33480136G>C uc001bwp.1 - 5 527 c.485C>G c.(484-486)CCC>CGC p.P162R uc001bwn.2_Intron|AK2_uc001bwo.1_Missense_Mutation_p.P162R|AK2_uc010ohq.1_Missense_Mutation_p.P154R|AK2_uc009vud.1_Missense_Mutation_p.P120R|AK2_uc010ohr.1_Missense_Mutation_p.P114R|AK2_uc001bwq.1_Missense_Mutation_p.P114R NM_001625 NP_001616 P54819 KAD2_HUMAN adenylate kinase 2 isoform a 162 nucleobase, nucleoside and nucleotide interconversion mitochondrial intermembrane space adenylate kinase activity|ATP binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) ATCTTTCATGGGCTCTTTTGG 0.303 NA 70 398 0 0 0 0 TRIM62 55223 broad.mit.edu 37 1 33625294 33625294 + Silent SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr1:33625294G>A uc001bxb.2 - 3 1394 c.756C>T c.(754-756)TCC>TCT p.S252S NM_018207 NP_060677 Q9BVG3 TRI62_HUMAN tripartite motif-containing 62 252 intracellular zinc ion binding 0 Myeloproliferative disorder(586;0.0393) CTTACCGCTCGGACAGTGAGG 0.682 NA 14 31 0 0 0 0 IPO13 9670 broad.mit.edu 37 1 44422613 44422613 + Nonsense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr1:44422613G>A uc001ckx.2 + 5 2031 c.1236G>A c.(1234-1236)TGG>TGA p.W412* NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 412 HEAT 6. protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) ATGGATTCTGGTCCTCAGACG 0.507 NA 34 90 0 0 0 0 C1orf177 163747 broad.mit.edu 37 1 55277720 55277720 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr1:55277720G>A uc001cyb.3 + 6 674 c.620G>A c.(619-621)GGG>GAG p.G207E C1orf177_uc001cya.3_Missense_Mutation_p.G207E NM_001110533 NP_001104003 Q3ZCV2 CA177_HUMAN hypothetical protein LOC163747 isoform 2 207 0 GTGCTCTAGGGGAGTGGTCTG 0.627 NA 53 164 0 0 0 0 TBX15 6913 broad.mit.edu 37 1 119456776 119456776 + Missense_Mutation SNP G G C TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr1:119456776G>C uc001ehl.1 - 6 885 c.570C>G c.(568-570)AAC>AAG p.N190K NM_152380 NP_689593 Q96SF7 TBX15_HUMAN T-box 15 296 T-box. nucleus DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1) 2 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) TAGCAAAAGGGTTTCGGTCAA 0.353 NA 13 88 0 0 0 0 ITGA10 8515 broad.mit.edu 37 1 145535761 145535761 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr1:145535761C>T uc001eoa.2 + 16 2025 c.1949C>T c.(1948-1950)CCA>CTA p.P650L NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.P519L|ITGA10_uc009wiw.2_Missense_Mutation_p.P507L|ITGA10_uc010oyw.1_Missense_Mutation_p.P595L NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 650 Extracellular (Potential).|FG-GAP 7. cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CATCTGACCCCATCACTGGAG 0.562 NA 7 301 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152278060 152278060 + Nonsense_Mutation SNP G G C TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr1:152278060G>C uc001ezu.1 - 3 9338 c.9302C>G c.(9301-9303)TCA>TGA p.S3101* NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3101 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGGGATGCTGAGTGCCTGGA 0.582 NA Ichthyosis 110 485 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525520 176525520 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr1:176525520C>T uc001gkz.2 + 2 1226 c.62C>T c.(61-63)TCT>TTT p.S21F PAPPA2_uc001gky.1_Missense_Mutation_p.S21F|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 21 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 GCACTCTGTTCTGCCAACTCT 0.512 NA 49 170 0 0 0 0 ASTN1 460 broad.mit.edu 37 1 176915237 176915237 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr1:176915237G>A uc001glc.2 - 13 2286 c.2074C>T c.(2074-2076)CTT>TTT p.L692F ASTN1_uc001glb.1_Missense_Mutation_p.L692F|ASTN1_uc001gld.1_Missense_Mutation_p.L692F|ASTN1_uc009wwx.1_Missense_Mutation_p.L692F NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 700 EGF-like 3. cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 TCCACACCAAGCTTGTAGTCC 0.517 NA 6 116 0 0 0 0 EDEM3 80267 broad.mit.edu 37 1 184688698 184688698 + Missense_Mutation SNP T T C TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr1:184688698T>C uc010pok.1 - 10 1217 c.956A>G c.(955-957)TAT>TGT p.Y319C EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.Y319C NM_025191 NP_079467 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 319 HY -> VS (in Ref. 4; AAI05587). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding skin(1) 1 TATGGCATCATAGTGCTAAAA 0.363 NA 17 78 0 0 0 0 PTPRC 5788 broad.mit.edu 37 1 198703458 198703458 + Silent SNP T T C TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr1:198703458T>C uc001gur.1 + 22 2355 c.2175T>C c.(2173-2175)GGT>GGC p.G725G PTPRC_uc001gus.1_Silent_p.G677G|PTPRC_uc001gut.1_Silent_p.G564G|PTPRC_uc010ppg.1_Silent_p.G661G NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 725 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 ACCTCCTAGGTCCCAGGGATG 0.338 NA 15 725 0 0 0 0 SLC26A9 115019 broad.mit.edu 37 1 205904837 205904837 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr1:205904837G>A uc001hdq.2 - 2 226 c.112C>T c.(112-114)CGC>TGC p.R38C SLC26A9_uc001hdp.2_Missense_Mutation_p.R38C NM_052934 NP_443166 Q7LBE3 S26A9_HUMAN solute carrier family 26, member 9 isoform a 38 integral to membrane chloride channel activity|secondary active sulfate transmembrane transporter activity ovary(1)|skin(1) 2 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0458) AAGGCATTGCGAAGTTTCTCT 0.552 NA 50 152 0 0 0 0 LYST 1130 broad.mit.edu 37 1 235915445 235915445 + Missense_Mutation SNP A A G TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr1:235915445A>G uc001hxj.2 - 27 7662 c.7487T>C c.(7486-7488)CTT>CCT p.L2496P LYST_uc009xga.1_Missense_Mutation_p.L78P NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 2496 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ATCACAAGCAAGCAATTTATA 0.313 NA Chediak-Higashi_syndrome 24 69 0 0 0 0 DDX21 9188 broad.mit.edu 37 10 70741337 70741337 + Silent SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr10:70741337G>A uc001jov.1 + 14 2172 c.2082G>A c.(2080-2082)CAG>CAA p.Q694Q DDX21_uc001jow.1_Silent_p.Q626Q NM_004728 NP_004719 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 694 nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1) 3 CAGAAATACAGGTATTCTTTT 0.328 NA 4 130 0 0 0 0 RBMXL2 27288 broad.mit.edu 37 11 7110534 7110534 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr11:7110534C>T uc001mfc.2 + 1 370 c.183C>T c.(181-183)GAC>GAT p.D61D NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 61 RRM. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCCCCGCAGACGCCAAGGCCG 0.617 NA 4 28 0 0 0 0 PAMR1 25891 broad.mit.edu 37 11 35513609 35513609 + Silent SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr11:35513609G>A uc001mwg.2 - 3 406 c.363C>T c.(361-363)TAC>TAT p.Y121Y PAMR1_uc001mwf.2_Silent_p.Y121Y|PAMR1_uc010rew.1_Silent_p.Y121Y|PAMR1_uc010rex.1_Silent_p.Y81Y NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 121 proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 AGTCTCCTCCGTACCAGCCTG 0.493 NA 57 191 0 0 0 0 OR5A2 219981 broad.mit.edu 37 11 59189802 59189802 + Missense_Mutation SNP T T C TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr11:59189802T>C uc010rkt.1 - 1 625 c.625A>G c.(625-627)ATA>GTA p.I209V NM_001001954 NP_001001954 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, 209 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACAGACACTATTCCAACGACA 0.498 NA 14 75 0 0 0 0 ATL3 25923 broad.mit.edu 37 11 63403702 63403702 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr11:63403702G>A uc001nxk.1 - 9 1231 c.955C>T c.(955-957)CGG>TGG p.R319W ATL3_uc010rms.1_Missense_Mutation_p.R301W|ATL3_uc010rmr.1_5'Flank NM_015459 NP_056274 Q6DD88 ATLA3_HUMAN atlastin 3 319 Cytoplasmic. endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding pancreas(1) 1 AGTAGTCCCCGACAGGTGACC 0.358 NA OREG0021036 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 186 0 0 0 0 NAALADL1 10004 broad.mit.edu 37 11 64825682 64825682 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr11:64825682C>T uc001ocn.2 - 2 242 c.226G>A c.(226-228)GAT>AAT p.D76N NAALADL1_uc010rnw.1_5'UTR NM_005468 NP_005459 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic 76 Extracellular (Potential). proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity 0 AGGTCCTCATCCCGAGGGCTG 0.677 NA 14 42 0 0 0 0 NPAS4 266743 broad.mit.edu 37 11 66190251 66190251 + Silent SNP A A T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr11:66190251A>T uc001ohx.1 + 4 713 c.537A>T c.(535-537)GGA>GGT p.G179G NPAS4_uc010rpc.1_Missense_Mutation_p.E6V NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 179 transcription, DNA-dependent DNA binding|signal transducer activity 0 ACCCACCTGGAGCCTACTGGG 0.632 NA 44 181 0 0 0 0 DLG2 1740 broad.mit.edu 37 11 84245683 84245683 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr11:84245683G>A uc001paj.2 - 2 437 c.134C>T c.(133-135)TCA>TTA p.S45L DLG2_uc010rsz.1_Missense_Mutation_p.S45L|DLG2_uc010rta.1_Missense_Mutation_p.S45L|DLG2_uc001pak.2_Missense_Mutation_p.S150L|DLG2_uc001pal.1_Missense_Mutation_p.S45L NM_001364 NP_001355 Q15700 DLG2_HUMAN chapsyn-110 isoform 2 45 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding|protein binding ovary(3)|pancreas(2)|skin(1) 6 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GTTCTTTTCTGATACATGCAC 0.418 NA 44 245 0 0 0 0 FAT3 120114 broad.mit.edu 37 11 92534195 92534195 + Silent SNP A A G TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr11:92534195A>G uc001pdj.3 + 9 8033 c.8016A>G c.(8014-8016)ACA>ACG p.T2672T NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2672 Cadherin 24.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGAAAAATACAGTGCTTTCGT 0.483 NA TCGA Ovarian(4;0.039) 6 43 0 0 0 0 KDM4D 55693 broad.mit.edu 37 11 94731017 94731017 + Nonsense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr11:94731017C>T uc001pfe.2 + 3 1313 c.481C>T c.(481-483)CAG>TAG p.Q161* NM_018039 NP_060509 Q6B0I6 KDM4D_HUMAN jumonji domain containing 2D 161 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GGGAACAATTCAGGACCTGCT 0.448 NA 32 93 0 0 0 0 ATM 472 broad.mit.edu 37 11 108143452 108143452 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr11:108143452G>A uc001pkb.1 + 22 3542 c.3157G>A c.(3157-3159)GAT>AAT p.D1053N ATM_uc009yxr.1_Missense_Mutation_p.D1053N NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 1053 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) CCCGTAGGCTGATCCTTATTC 0.318 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) 21 78 0 0 0 0 DSCAML1 57453 broad.mit.edu 37 11 117302401 117302401 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr11:117302401C>T uc001prh.1 - 31 5405 c.5403G>A c.(5401-5403)CGG>CGA p.R1801R NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1741 Cytoplasmic (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGTACCGGTTCCGGGTGCTGT 0.612 NA 48 130 0 0 0 0 KCNA1 3736 broad.mit.edu 37 12 5021875 5021875 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr12:5021875G>A uc001qnh.2 + 2 2436 c.1331G>A c.(1330-1332)CGC>CAC p.R444H NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 444 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTCAGTCGCCGCAGTTCCTCT 0.468 NA 80 320 0 0 0 0 VWF 7450 broad.mit.edu 37 12 6173440 6173440 + Silent SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr12:6173440G>A uc001qnn.1 - 12 1654 c.1404C>T c.(1402-1404)GGC>GGT p.G468G VWF_uc010set.1_Silent_p.G468G NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 468 VWFD 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) GGACGTCCTGGCCATCCATGG 0.632 NA 17 70 0 0 0 0 CD27 939 broad.mit.edu 37 12 6554350 6554350 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr12:6554350G>A uc001qod.2 + 1 300 c.89G>A c.(88-90)AGG>AAG p.R30K LOC678655_uc001qob.2_Intron|LOC678655_uc001qoc.2_Intron|LOC678655_uc009zel.1_Intron|CD27_uc001qoe.2_5'Flank NM_001242 NP_001233 P26842 CD27_HUMAN tumor necrosis factor receptor superfamily, 30 Extracellular (Potential).|TNFR-Cys 1. anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB extracellular region|integral to plasma membrane caspase inhibitor activity|protein binding|transmembrane receptor activity 0 TGCCCAGAGAGGCACTACTGG 0.637 NA 11 35 0 0 0 0 LEPREL2 10536 broad.mit.edu 37 12 6939120 6939120 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr12:6939120G>A uc001qra.1 + 4 630 c.596G>A c.(595-597)CGA>CAA p.R199Q LEPREL2_uc001qqz.1_Missense_Mutation_p.R6Q|LEPREL2_uc001qrb.1_Missense_Mutation_p.R6Q|GPR162_uc001qqy.1_Missense_Mutation_p.R134Q NM_014262 NP_055077 Q8IVL6 P3H3_HUMAN leprecan-like 2 precursor 199 negative regulation of cell proliferation endoplasmic reticulum iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity 0 L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) AAGTACAGACGAATGTCGGGA 0.592 NA 40 149 0 0 0 0 GNB3 2784 broad.mit.edu 37 12 6952179 6952179 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr12:6952179C>T uc001qrd.2 + 5 547 c.142C>T c.(142-144)CGG>TGG p.R48W GNB3_uc001qrc.2_Missense_Mutation_p.R4W|GNB3_uc009zfe.2_Missense_Mutation_p.R48W NM_002075 NP_002066 P16520 GBB3_HUMAN guanine nucleotide-binding protein, beta-3 48 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission plasma membrane GTPase activity|GTPase binding|signal transducer activity 0 GATGCGGACGCGGCGGACGTT 0.597 NA 5 72 0 0 0 0 BICD1 636 broad.mit.edu 37 12 32446959 32446959 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr12:32446959G>A uc001rku.2 + 3 539 c.458G>A c.(457-459)CGG>CAG p.R153Q BICD1_uc001rkv.2_Missense_Mutation_p.R153Q|BICD1_uc010skd.1_RNA NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 153 Potential. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) CAGAGAATACGGATGAAGGAT 0.388 NA 3 56 0 0 0 0 RAB3IP 117177 broad.mit.edu 37 12 70149312 70149312 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr12:70149312C>T uc001svp.2 + 2 619 c.172C>T c.(172-174)CGG>TGG p.R58W RAB3IP_uc001svl.1_Missense_Mutation_p.R42W|RAB3IP_uc001svm.2_Missense_Mutation_p.R42W|RAB3IP_uc001svn.2_Missense_Mutation_p.R42W|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_Missense_Mutation_p.R58W|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA NM_175623 NP_783322 Q96QF0 RAB3I_HUMAN RAB3A interacting protein isoform alpha 2 58 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) TGTCATCTACCGGCCACACCC 0.468 NA 31 106 0 0 0 0 SYT1 6857 broad.mit.edu 37 12 79611355 79611355 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr12:79611355C>T uc001sys.2 + 5 727 c.56C>T c.(55-57)GCG>GTG p.A19V SYT1_uc001syt.2_Missense_Mutation_p.A19V|SYT1_uc001syu.2_Missense_Mutation_p.A19V|SYT1_uc001syv.2_Missense_Mutation_p.A19V NM_001135805 NP_001129277 P21579 SYT1_HUMAN synaptotagmin I 19 Vesicular (Potential). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity skin(3)|pancreas(2)|ovary(1) 6 ACCACTGTCGCGACTGTTCTG 0.527 NA 17 53 0 0 0 0 PPFIA2 8499 broad.mit.edu 37 12 81657105 81657105 + Missense_Mutation SNP T T C TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr12:81657105T>C uc001szo.1 - 31 3781 c.3620A>G c.(3619-3621)CAT>CGT p.H1207R PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 1106 ovary(3)|lung(2)|pancreas(1) 6 GCTGATTCCATGTACTTCACG 0.443 NA 33 56 0 0 0 0 EP400 57634 broad.mit.edu 37 12 132546772 132546772 + Nonsense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr12:132546772C>T uc001ujn.2 + 45 8037 c.8002C>T c.(8002-8004)CGA>TGA p.R2668* EP400_uc001ujl.2_Nonsense_Mutation_p.R2667*|EP400_uc001ujm.2_Nonsense_Mutation_p.R2587*|EP400_uc001ujp.2_5'Flank NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2704 Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TCAGGGTGTTCGAGCGGTCAC 0.667 NA 28 109 0 0 0 0 WASF3 10810 broad.mit.edu 37 13 27216530 27216530 + Silent SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr13:27216530G>A uc001uqv.2 + 3 348 c.123G>A c.(121-123)CTG>CTA p.L41L WASF3_uc001uqw.2_Silent_p.L41L NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 41 actin filament polymerization cytoplasm|cytoskeleton actin binding pancreas(1) 1 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) TACGCCAGCTGAGCAGTCTGA 0.418 NA 7 217 0 0 0 0 AKAP11 11215 broad.mit.edu 37 13 42876708 42876708 + Missense_Mutation SNP A A G TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr13:42876708A>G uc001uys.1 + 8 4001 c.3826A>G c.(3826-3828)AAA>GAA p.K1276E NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 1276 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) GAAAATAGCAAAAGTCCGAAA 0.373 NA 26 95 0 0 0 0 AKAP11 11215 broad.mit.edu 37 13 42876731 42876731 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr13:42876731C>T uc001uys.1 + 8 4024 c.3849C>T c.(3847-3849)TTC>TTT p.F1283F NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 1283 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) GTATGCTTTTCAAGCAAAAGA 0.383 NA 25 94 0 0 0 0 OR4N5 390437 broad.mit.edu 37 14 20612693 20612693 + Missense_Mutation SNP G G T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr14:20612693G>T uc010tla.1 + 1 799 c.799G>T c.(799-801)GCT>TCT p.A267S NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, 267 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) GGCTTTCCCAGCTGACAAGGT 0.428 NA 106 402 1.98e-57 2.28e-57 1 0 FAM179B 23116 broad.mit.edu 37 14 45473350 45473350 + Missense_Mutation SNP A A T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr14:45473350A>T uc001wvv.2 + 4 2634 c.2425A>T c.(2425-2427)AGT>TGT p.S809C FAM179B_uc001wvw.2_Missense_Mutation_p.S809C|FAM179B_uc010anc.2_RNA|FAM179B_uc001wvu.2_Missense_Mutation_p.S809C NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 809 binding skin(2)|upper_aerodigestive_tract(1) 3 TCAAAATCCAAGTCCAGGAGC 0.398 NA 4 89 0 0 0 0 TMEM30B 161291 broad.mit.edu 37 14 61746909 61746909 + Silent SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr14:61746909G>A uc001xfl.2 - 1 1622 c.957C>T c.(955-957)ATC>ATT p.I319I PRKCH_uc010tsa.1_Intron|TMEM30B_uc010apr.1_RNA NM_001017970 NP_001017970 Q3MIR4 CC50B_HUMAN transmembrane protein 30B 319 Helical; (Potential). integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181) CCAGGTAGGCGATGCCCAGGA 0.602 NA 10 42 0 0 0 0 SYNE2 23224 broad.mit.edu 37 14 64464044 64464044 + Missense_Mutation SNP A A G TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr14:64464044A>G uc001xgm.2 + 25 3408 c.3178A>G c.(3178-3180)AGA>GGA p.R1060G SYNE2_uc001xgl.2_Missense_Mutation_p.R1060G NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1060 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATCTGAGAATAGAGGAGGGGA 0.383 NA 6 32 0 0 0 0 GABRA5 2558 broad.mit.edu 37 15 27193231 27193231 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr15:27193231G>A uc001zbd.1 + 12 1579 c.1240G>A c.(1240-1242)GAA>AAA p.E414K GABRA5_uc001zbe.1_RNA NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 414 Cytoplasmic (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GAAGACTTCTGAAAGCAAAAA 0.448 NA 7 18 0 0 0 0 GATM 2628 broad.mit.edu 37 15 45658345 45658345 + Missense_Mutation SNP T T C TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr15:45658345T>C uc001zvc.2 - 6 1206 c.877A>G c.(877-879)ATC>GTC p.I293V GATM_uc001zvb.2_Missense_Mutation_p.I164V|GATM_uc010uev.1_Missense_Mutation_p.I346V NM_001482 NP_001473 P50440 GATM_HUMAN L-arginine:glycine amidinotransferase precursor 293 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding 0 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) AAGGAGATGATATGCACTCTG 0.418 NA 34 92 0 0 0 0 CLPX 10845 broad.mit.edu 37 15 65472462 65472462 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr15:65472462G>A uc002aom.2 - 2 232 c.160C>T c.(160-162)CTT>TTT p.L54F CLPX_uc010uiu.1_RNA|CLPX_uc010bhg.1_Missense_Mutation_p.L54F NM_006660 NP_006651 O76031 CLPX_HUMAN ClpX caseinolytic protease X homolog precursor 54 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding 0 AAGGATCTAAGAGGAGCTCTT 0.363 NA 32 154 0 0 0 0 KIAA1024 23251 broad.mit.edu 37 15 79760530 79760530 + Missense_Mutation SNP C C T rs140151474 byFrequency TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr15:79760530C>T uc002bew.1 + 4 2630 c.2555C>T c.(2554-2556)ACG>ATG p.T852M KIAA1024_uc010unk.1_3'UTR NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 852 integral to membrane p.T852M(1) pancreas(2)|ovary(1)|central_nervous_system(1) 4 CGCTTTTAGACGCAAGAATCT 0.378 NA 18 36 0 0 0 0 NMB 4828 broad.mit.edu 37 15 85201301 85201301 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr15:85201301C>T uc002bkz.2 - 1 502 c.83G>A c.(82-84)AGC>AAC p.S28N NMB_uc002bla.2_Missense_Mutation_p.S28N NM_021077 NP_066563 P08949 NMB_HUMAN neuromedin B isoform 1 28 cell-cell signaling|neuropeptide signaling pathway extracellular region|soluble fraction hormone activity 0 all cancers(203;3.5e-06) GAGATCCCAGCTGAGCGGGGC 0.622 NA 9 17 0 0 0 0 RAB11FIP3 9727 broad.mit.edu 37 16 532707 532707 + Silent SNP C C T rs139755055 byFrequency TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr16:532707C>T uc002chf.2 + 4 1425 c.1086C>T c.(1084-1086)GAC>GAT p.D362D RAB11FIP3_uc010uuf.1_Silent_p.D66D|RAB11FIP3_uc010uug.1_Silent_p.D52D NM_014700 NP_055515 O75154 RFIP3_HUMAN rab11-family interacting protein 3 isoform 1 362 cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding 0 Hepatocellular(16;0.0218) AGGAGCCCGACCATGGTGCCC 0.687 NA 6 16 0 0 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1756596 1756596 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr16:1756596G>A uc002cmk.2 + 1 376 c.256G>A c.(256-258)GAC>AAC p.D86N MAPK8IP3_uc002cmi.1_Missense_Mutation_p.D86N|MAPK8IP3_uc002cmj.1_RNA|MAPK8IP3_uc002cml.2_Missense_Mutation_p.D86N|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.D86N NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 86 Potential. vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 GCTGCGCGAGGACAACGAGCA 0.592 NA 3 13 0 0 0 0 MGRN1 23295 broad.mit.edu 37 16 4731639 4731639 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr16:4731639C>T uc002cwz.2 + 13 1356 c.1220C>T c.(1219-1221)TCG>TTG p.S407L MGRN1_uc002cxa.2_Missense_Mutation_p.S407L|MGRN1_uc010btx.2_Missense_Mutation_p.S386L|MGRN1_uc010btw.2_Missense_Mutation_p.S386L|MGRN1_uc002cxb.2_Missense_Mutation_p.S446L|MGRN1_uc010uxo.1_Missense_Mutation_p.S385L|MGRN1_uc010uxp.1_Missense_Mutation_p.S385L|MGRN1_uc010uxq.1_RNA NM_001142290 NP_001135762 O60291 MGRN1_HUMAN mahogunin, ring finger 1 isoform 3 407 Required for TSG101-binding. PSAP->ASAA: Loss of TSG101-binding and drastic reduction of TSG101- ubiquitination. endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 GCCATCCCCTCGGCCCCTCTT 0.637 NA 6 128 0 0 0 0 C16orf71 146562 broad.mit.edu 37 16 4787863 4787863 + Missense_Mutation SNP C C A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr16:4787863C>A uc002cxn.2 + 3 654 c.192C>A c.(190-192)GAC>GAA p.D64E NM_139170 NP_631909 Q8IYS4 CP071_HUMAN hypothetical protein LOC146562 64 central_nervous_system(1) 1 TGATTCCAGACCTGTCGGAGG 0.577 NA 29 98 2.37e-06 2.53e-06 1 0 C16orf72 29035 broad.mit.edu 37 16 9210684 9210684 + Missense_Mutation SNP A A G TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr16:9210684A>G uc002czm.2 + 4 1108 c.743A>G c.(742-744)AAT>AGT p.N248S NM_014117 NP_054836 Q14CZ0 CP072_HUMAN hypothetical protein LOC29035 248 large_intestine(1) 1 CACTTGGACAATGGTGGAACT 0.438 NA 41 139 0 0 0 0 ZNF319 57567 broad.mit.edu 37 16 58031444 58031444 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr16:58031444C>T uc002emx.1 - 2 1349 c.726G>A c.(724-726)TCG>TCA p.S242S NM_020807 NP_065858 Q9P2F9 ZN319_HUMAN zinc finger protein 319 242 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCAGGTGCGACGACTGGCTGA 0.617 NA 43 155 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577547 7577547 + Missense_Mutation SNP C C A rs121912656 TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr17:7577547C>A uc002gim.2 - 7 928 c.734G>T c.(733-735)GGC>GTC p.G245V TP53_uc002gig.1_Missense_Mutation_p.G245V|TP53_uc002gih.2_Missense_Mutation_p.G245V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113V|TP53_uc010cng.1_Missense_Mutation_p.G113V|TP53_uc002gii.1_Missense_Mutation_p.G113V|TP53_uc010cnh.1_Missense_Mutation_p.G245V|TP53_uc010cni.1_Missense_Mutation_p.G245V|TP53_uc002gij.2_Missense_Mutation_p.G245V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152V|TP53_uc002gio.2_Missense_Mutation_p.G113V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and 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.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245del(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CCGGTTCATGCCGCCCATGCA 0.582 111 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) 28 42 1.22e-17 1.38e-17 1 0 CHD3 1107 broad.mit.edu 37 17 7810280 7810280 + Missense_Mutation SNP T T C TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr17:7810280T>C uc002gje.2 + 30 4747 c.4597T>C c.(4597-4599)TCT>CCT p.S1533P CHD3_uc002gjd.2_Missense_Mutation_p.S1592P|CHD3_uc002gjf.2_Missense_Mutation_p.S1533P|CHD3_uc002gjh.2_Missense_Mutation_p.S109P|CHD3_uc002gjj.2_5'Flank NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1533 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) CAGAGCCTCCTCTCCTACCAA 0.562 NA 61 260 0 0 0 0 PFAS 5198 broad.mit.edu 37 17 8167250 8167250 + Missense_Mutation SNP G G A rs142452570 byFrequency TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr17:8167250G>A uc002gkr.2 + 15 1928 c.1787G>A c.(1786-1788)CGG>CAG p.R596Q PFAS_uc010vuv.1_Missense_Mutation_p.R172Q|PFAS_uc010cnw.1_Intron|PFAS_uc002gks.2_5'Flank NM_012393 NP_036525 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 596 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding ovary(2)|central_nervous_system(2)|pancreas(1) 5 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) ACTGGAGACCGGAGAGTGAGT 0.597 NA 39 118 0 0 0 0 MYH13 8735 broad.mit.edu 37 17 10222179 10222179 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr17:10222179C>T uc002gmk.1 - 27 3756 c.3666G>A c.(3664-3666)GAG>GAA p.E1222E NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1222 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TCTTCTCCTTCTCCAGCTTCT 0.557 NA 27 168 0 0 0 0 MYH8 4626 broad.mit.edu 37 17 10304723 10304723 + Missense_Mutation SNP C C A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr17:10304723C>A uc002gmm.2 - 24 3072 c.2977G>T c.(2977-2979)GCA>TCA p.A993S uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 993 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 GACAGTTTTGCAATGGTTTCA 0.458 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 62 219 7.42e-26 8.39e-26 1 0 ALKBH5 54890 broad.mit.edu 37 17 18110247 18110247 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr17:18110247C>T uc010cpw.2 + 3 1661 c.970C>T c.(970-972)CGG>TGG p.R324W ALKBH5_uc010cpx.2_RNA NM_017758 NP_060228 Q6P6C2 ALKB5_HUMAN alkB, alkylation repair homolog 5 324 integral to membrane metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 all_neural(463;0.228) GAAACCCAAGCGGTCCCACCG 0.587 NA 75 319 0 0 0 0 ACCN1 40 broad.mit.edu 37 17 31415907 31415907 + Missense_Mutation SNP T T C TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr17:31415907T>C uc002hhu.2 - 3 1082 c.808A>G c.(808-810)ACC>GCC p.T270A ACCN1_uc002hht.2_Missense_Mutation_p.T321A NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 270 Extracellular (By similarity). central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215) Amiloride(DB00594) GCCACAAAGGTCTGGAACCCT 0.572 NA 13 33 0 0 0 0 KRT36 8689 broad.mit.edu 37 17 39643670 39643670 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr17:39643670G>A uc002hwt.2 - 5 920 c.920C>T c.(919-921)ACG>ATG p.T307M NM_003771 NP_003762 O76013 KRT36_HUMAN keratin 36 307 Rod.|Coil 2. intermediate filament protein binding|structural constituent of epidermis 0 Breast(137;0.000286) GATGATCTCCGTCTGGCAGCA 0.612 NA 3 44 0 0 0 0 TUBG1 7283 broad.mit.edu 37 17 40765019 40765019 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr17:40765019G>A uc002ian.2 + 6 932 c.534G>A c.(532-534)ATG>ATA p.M178I NM_001070 NP_001061 P23258 TBG1_HUMAN tubulin, gamma 1 178 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton ovary(1) 1 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) AGGACGAGATGAGCGATGTGG 0.542 NA 53 138 0 0 0 0 AOC2 314 broad.mit.edu 37 17 40996984 40996984 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr17:40996984C>T uc002ibu.2 + 1 376 c.341C>T c.(340-342)CCC>CTC p.P114L AOC2_uc002ibt.2_Missense_Mutation_p.P114L NM_009590 NP_033720 O75106 AOC2_HUMAN amine oxidase, copper containing 2 isoform b 114 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity ovary(2) 2 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) AGGGGGAGCCCCCCACCTGCC 0.677 NA 29 86 0 0 0 0 WNT9B 7484 broad.mit.edu 37 17 44949908 44949908 + Missense_Mutation SNP C C G TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr17:44949908C>G uc002ikw.1 + 2 140 c.103C>G c.(103-105)CCC>GCC p.P35A WNT9B_uc002ikx.1_Missense_Mutation_p.P35A NM_003396 NP_003387 O14905 WNT9B_HUMAN wingless-type MMTV integration site family, 35 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.0257) AGTCCTGACGCCCTTCCCAGG 0.667 NA 51 202 0 0 0 0 C17orf67 339210 broad.mit.edu 37 17 54872507 54872507 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr17:54872507C>T uc010dci.2 - 3 270 c.263G>A c.(262-264)CGC>CAC p.R88H C17orf67_uc002iuq.2_RNA NM_001085430 NP_001078899 Q0P5P2 CQ067_HUMAN hypothetical protein LOC339210 precursor 88 extracellular region 0 Breast(9;2.49e-06) CTCCTCAGCGCGATGCTCCAG 0.547 NA 13 49 0 0 0 0 EPX 8288 broad.mit.edu 37 17 56274611 56274611 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr17:56274611C>T uc002ivq.2 + 7 1199 c.1113C>T c.(1111-1113)TTC>TTT p.F371F NM_000502 NP_000493 P11678 PERE_HUMAN eosinophil peroxidase preproprotein 371 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding ovary(2) 2 TCCCCTGCTTCCTGGCAGGTC 0.617 NA 28 75 0 0 0 0 GH2 2689 broad.mit.edu 37 17 61957832 61957832 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr17:61957832G>A uc002jco.1 - 5 565 c.503C>T c.(502-504)TCC>TTC p.S168F GH2_uc002jcj.2_Intron|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Silent_p.V252V|GH2_uc002jcm.1_Missense_Mutation_p.P167S|GH2_uc002jcn.1_Missense_Mutation_p.S153F NM_002059 NP_002050 P01242 SOM2_HUMAN growth hormone 2 isoform 1 168 extracellular region hormone activity upper_aerodigestive_tract(2)|pancreas(1) 3 CTTGCTGTAGGACTGATTGAA 0.542 NA 38 133 0 0 0 0 SCN4A 6329 broad.mit.edu 37 17 62018859 62018859 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr17:62018859C>T uc002jds.1 - 24 4860 c.4783G>A c.(4783-4785)GCC>ACC p.A1595T NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1595 IV.|Helical; Name=S6 of repeat IV; (Potential). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) AGGATGATGGCGATGTACATG 0.517 NA 22 70 0 0 0 0 WIPI1 55062 broad.mit.edu 37 17 66426234 66426234 + Missense_Mutation SNP G G T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr17:66426234G>T uc010dey.2 - 9 959 c.868C>A c.(868-870)CTC>ATC p.L290I WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Missense_Mutation_p.L208I|WIPI1_uc002jhe.3_RNA NM_017983 NP_060453 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 290 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding 0 TGGGTAGGGAGGTAGTTGGTA 0.527 NA 26 90 3.18e-06 3.39e-06 1 0 DCC 1630 broad.mit.edu 37 18 50923746 50923746 + Silent SNP G G A rs144874430 TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr18:50923746G>A uc002lfe.1 + 18 3344 c.2757G>A c.(2755-2757)TCG>TCA p.S919S DCC_uc010xdr.1_Silent_p.S747S|DCC_uc010dpf.1_Silent_p.S554S NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 919 Extracellular (Potential).|Fibronectin type-III 5. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) ATGAATTCTCGGTCATGGTAA 0.413 NA 3 86 0 0 0 0 TXNL1 9352 broad.mit.edu 37 18 54291640 54291640 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr18:54291640C>T uc002lgg.2 - 3 497 c.248G>A c.(247-249)CGA>CAA p.R83Q TXNL1_uc010xdz.1_RNA|TXNL1_uc002lgh.2_RNA|TXNL1_uc002lgi.2_Missense_Mutation_p.R83Q|TXNL1_uc002lgj.1_Missense_Mutation_p.R83Q NM_004786 NP_004777 O43396 TXNL1_HUMAN thioredoxin-like 1 83 Thioredoxin. cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport cytoplasm electron carrier activity|protein disulfide oxidoreductase activity 0 READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211) CACTTTGTTTCGAAAAAACAA 0.378 NA 60 163 0 0 0 0 FCHO1 23149 broad.mit.edu 37 19 17888953 17888953 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr19:17888953G>A uc010ebb.2 + 18 1456 c.1267G>A c.(1267-1269)GAG>AAG p.E423K FCHO1_uc002nhg.3_Missense_Mutation_p.E423K|FCHO1_uc002nhh.2_Missense_Mutation_p.E423K|FCHO1_uc010xpw.1_Missense_Mutation_p.E373K|FCHO1_uc002nhi.2_5'Flank|FCHO1_uc002nhj.2_5'Flank NM_001161358 NP_001154830 O14526 FCHO1_HUMAN FCH domain only 1 isoform b 423 breast(1) 1 TAGCTGTGCAGAGAGATTGCA 0.393 NA 3 95 0 0 0 0 ZNF506 440515 broad.mit.edu 37 19 19905666 19905666 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr19:19905666C>T uc010eci.2 - 4 1178 c.1030G>A c.(1030-1032)GAC>AAC p.D344N ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.D312N NM_001099269 NP_001092739 Q5JVG8 ZN506_HUMAN zinc finger protein 506 isoform 1 344 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding 0 CCACATTCGTCACATTTGTAG 0.413 NA 5 174 0 0 0 0 ZNF99 7652 broad.mit.edu 37 19 22939037 22939037 + Missense_Mutation SNP A A T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr19:22939037A>T uc010xrh.1 - 8 3081 c.3081T>A c.(3079-3081)CAT>CAA p.H1027Q NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GAATTATCTTATGTTTAGTAA 0.333 NA 52 135 0 0 0 0 DYRK1B 9149 broad.mit.edu 37 19 40319149 40319149 + Missense_Mutation SNP C C A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr19:40319149C>A uc002omj.2 - 6 875 c.595G>T c.(595-597)GAC>TAC p.D199Y DYRK1B_uc002omi.2_Missense_Mutation_p.D199Y|DYRK1B_uc002omk.2_Missense_Mutation_p.D199Y NM_004714 NP_004705 Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 199 Protein kinase. positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity ovary(4)|stomach(1)|central_nervous_system(1)|skin(1) 7 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) CGCAGGAGGTCGTACAGGTTG 0.622 NA 6 10 0.00116845 0.0012234 1 0 DHX34 9704 broad.mit.edu 37 19 47856739 47856739 + Missense_Mutation SNP G G A rs149967464 by1000genomes TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr19:47856739G>A uc010xyn.1 + 2 793 c.452G>A c.(451-453)CGT>CAT p.R151H DHX34_uc010elc.1_Missense_Mutation_p.R151H NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 151 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) GCATTTGGGCGTCTGGCCAAG 0.647 NA 35 65 0 0 0 0 RASIP1 54922 broad.mit.edu 37 19 49238477 49238477 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr19:49238477C>T uc002pki.2 - 4 1352 c.1155G>A c.(1153-1155)CTG>CTA p.L385L NM_017805 NP_060275 Q5U651 RAIN_HUMAN Ras-interacting protein 1 385 signal transduction Golgi stack|perinuclear region of cytoplasm pancreas(1) 1 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) AGCCCTGGAGCAGCAGGAAGT 0.637 NA 7 30 0 0 0 0 ZNF808 388558 broad.mit.edu 37 19 53057763 53057763 + Missense_Mutation SNP C C G TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr19:53057763C>G uc010epq.1 + 5 1771 c.1594C>G c.(1594-1596)CTT>GTT p.L532V ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN zinc finger protein 808 532 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) CCATCGTAGACTTCACACTCT 0.413 NA 59 251 0 0 0 0 SAPS1 22870 broad.mit.edu 37 19 55752732 55752732 + Missense_Mutation SNP T T C TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr19:55752732T>C uc002qjw.3 - 9 1278 c.1036A>G c.(1036-1038)ATG>GTG p.M346V SAPS1_uc002qjv.2_Missense_Mutation_p.M408V NM_014931 NP_055746 Q9UPN7 PP6R1_HUMAN SAPS domain family, member 1 346 Interaction with PPP6C. regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding 0 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) GGAGCCAGCATGCCCCATGTC 0.667 NA 12 40 0 0 0 0 ZNF134 7693 broad.mit.edu 37 19 58132398 58132398 + Missense_Mutation SNP T T A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr19:58132398T>A uc002qpn.2 + 3 1010 c.911T>A c.(910-912)GTT>GAT p.V304D ZNF134_uc002qpo.2_Missense_Mutation_p.V131D|ZNF211_uc010yhb.1_5'UTR NM_003435 NP_003426 P52741 ZN134_HUMAN zinc finger protein 134 304 C2H2-type 7. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) TCTACACTTGTTCAGCATGAG 0.408 NA 57 211 0 0 0 0 C19orf18 147685 broad.mit.edu 37 19 58472909 58472909 + Nonsense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr19:58472909G>A uc002qqv.2 - 5 486 c.382C>T c.(382-384)CAG>TAG p.Q128* NM_152474 NP_689687 Q8NEA5 CS018_HUMAN hypothetical protein LOC147685 precursor 128 Cytoplasmic (Potential). integral to membrane ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017) TCCTCAGCCTGTGCCAGTCGA 0.428 NA 50 147 0 0 0 0 EML4 27436 broad.mit.edu 37 2 42557335 42557335 + Silent SNP G G A rs147316565 TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr2:42557335G>A uc002rsi.2 + 23 3196 c.2934G>A c.(2932-2934)TCG>TCA p.S978S EML4_uc010fap.2_Silent_p.S920S|EML4_uc002rsj.2_Silent_p.S667S|EML4_uc010faq.2_Silent_p.S323S|EML4_uc010ynv.1_Silent_p.S242S NM_019063 NP_061936 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 978 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(246) lung(246)|ovary(2)|central_nervous_system(1)|skin(1) 250 AAGACCCTTCGCCCTCGTCCT 0.517 NA T ALK NSCLC 18 45 0 0 0 0 ASB3 51130 broad.mit.edu 37 2 53927532 53927532 + Missense_Mutation SNP C C G TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr2:53927532C>G uc002rxg.1 - 8 1249 c.1114G>C c.(1114-1116)GGA>CGA p.G372R ASB3_uc002rxh.1_Missense_Mutation_p.G299R|ASB3_uc002rxi.3_Missense_Mutation_p.G410R|ASB3_uc002rxf.1_RNA NM_016115 NP_057199 Q9Y575 ASB3_HUMAN ankyrin repeat and SOCS box-containing protein 3 372 ANK 11. intracellular signal transduction ovary(1)|kidney(1) 2 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TTCCATGGTCCCAATGAGCAA 0.388 NA 26 121 0 0 0 0 LOXL3 84695 broad.mit.edu 37 2 74777400 74777400 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr2:74777400C>T uc002smp.1 - 3 461 c.389G>A c.(388-390)GGG>GAG p.G130E LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Missense_Mutation_p.G130E|LOXL3_uc002smq.1_Missense_Mutation_p.G130E|LOXL3_uc010ffn.1_Missense_Mutation_p.G130E|DOK1_uc002smr.2_Intron NM_032603 NP_115992 P58215 LOXL3_HUMAN lysyl oxidase-like 3 precursor 130 SRCR 1. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity 0 GTCACTGTTCCCCCAGCCCCG 0.587 NA 8 148 0 0 0 0 SLC9A2 6549 broad.mit.edu 37 2 103324903 103324903 + Silent SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr2:103324903G>A uc002tca.2 + 12 2536 c.2394G>A c.(2392-2394)TCG>TCA p.S798S NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 798 Cytoplasmic (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 GGAGGGCATCGGAACCTGGAA 0.567 NA 42 97 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 142238095 142238095 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr2:142238095C>T uc002tvj.1 - 3 1185 c.213G>A c.(211-213)GAG>GAA p.E71E LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 71 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTTCTACCTCCTCGGGACCTG 0.388 NA TSP Lung(27;0.18) 24 89 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179594257 179594257 + Missense_Mutation SNP T T A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr2:179594257T>A uc010zfg.1 - 61 15118 c.14894A>T c.(14893-14895)GAG>GTG p.E4965V TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1626V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5892 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTTACTACCTCCACAGGCTT 0.468 NA 34 120 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179606186 179606186 + Missense_Mutation SNP A A T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr2:179606186A>T uc010zfh.1 - 46 11485 c.11261T>A c.(11260-11262)GTG>GAG p.V3754E TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.V3687E|TTN_uc010zfj.1_Missense_Mutation_p.V3562E|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGATTTTGCCACTGCTGATTC 0.433 NA 82 230 0 0 0 0 MDH1B 130752 broad.mit.edu 37 2 207611051 207611051 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr2:207611051C>T uc002vbs.2 - 8 1371 c.1316G>A c.(1315-1317)AGT>AAT p.S439N MDH1B_uc010ziw.1_RNA|MDH1B_uc010fui.2_Missense_Mutation_p.S439N|MDH1B_uc010fuj.2_Missense_Mutation_p.S341N|MDH1B_uc002vbt.2_RNA NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 439 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity ovary(3)|kidney(1) 4 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) TATTTGTTCACTTATTTCAAC 0.393 NA 32 74 0 0 0 0 PAX3 5077 broad.mit.edu 37 2 223163270 223163270 + Missense_Mutation SNP C C A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr2:223163270C>A uc010fwo.2 - 1 431 c.65G>T c.(64-66)CGT>CTT p.R22L PAX3_uc002vmt.1_Missense_Mutation_p.R22L|PAX3_uc002vmy.1_Missense_Mutation_p.R22L|PAX3_uc002vmv.1_Missense_Mutation_p.R22L|PAX3_uc002vmw.1_Missense_Mutation_p.R22L|PAX3_uc002vmx.1_Missense_Mutation_p.R22L|PAX3_uc002vmz.1_Missense_Mutation_p.R22L|PAX3_uc002vna.1_Missense_Mutation_p.R22L|CCDC140_uc002vnb.1_Intron NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 22 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAACCCGCTACGCGGGTAGTT 0.701 NA T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 6 18 0.00116845 0.0012234 1 0 DOCK10 55619 broad.mit.edu 37 2 225670158 225670158 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr2:225670158C>T uc010fwz.1 - 35 4142 c.3903G>A c.(3901-3903)GAG>GAA p.E1301E DOCK10_uc002vob.2_Silent_p.E1295E|DOCK10_uc002voa.2_5'UTR|DOCK10_uc002voc.2_Silent_p.E155E NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1301 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CACTGCTCTTCTCATTGGTAC 0.423 NA 16 69 0 0 0 0 PYGB 5834 broad.mit.edu 37 20 25239913 25239913 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr20:25239913C>T uc002wup.2 + 2 393 c.284C>T c.(283-285)ACG>ATG p.T95M NM_002862 NP_002853 P11216 PYGB_HUMAN brain glycogen phosphorylase 95 glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 Pyridoxal Phosphate(DB00114) ATGGGTCGCACGCTGCAGAAC 0.498 NA 31 102 0 0 0 0 PLCG1 5335 broad.mit.edu 37 20 39792085 39792085 + Missense_Mutation SNP G G T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr20:39792085G>T uc002xjp.1 + 9 978 c.857G>T c.(856-858)CGA>CTA p.R286L PLCG1_uc002xjo.1_Missense_Mutation_p.R286L|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.2_5'Flank NM_182811 NP_877963 P19174 PLCG1_HUMAN phospholipase C, gamma 1 isoform b 286 activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity lung(3)|breast(3)|skin(2) 8 Myeloproliferative disorder(115;0.00878) GACCCCTTACGAGAGATCGAG 0.567 NA 17 61 4.35e-09 4.77e-09 1 0 SERINC3 10955 broad.mit.edu 37 20 43133498 43133498 + Missense_Mutation SNP G G A rs149223322 TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr20:43133498G>A uc002xme.2 - 7 952 c.818C>T c.(817-819)TCC>TTC p.S273F SERINC3_uc002xmf.1_Missense_Mutation_p.S273F|SERINC3_uc010ggs.1_Missense_Mutation_p.S266F|SERINC3_uc010zwp.1_Missense_Mutation_p.S218F NM_198941 NP_945179 Q13530 SERC3_HUMAN tumor differentially expressed protein 1 273 Cytoplasmic (Potential). integral to membrane|plasma membrane protein binding skin(3) 3 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) GGTGATGAGGGAGGACTGCAA 0.478 NA 14 57 0 0 0 0 YWHAB 7529 broad.mit.edu 37 20 43530177 43530177 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr20:43530177G>A uc002xmt.2 + 3 285 c.3G>A c.(1-3)ATG>ATA p.M1I YWHAB_uc002xmu.2_Missense_Mutation_p.M1I NM_003404 NP_003395 P31946 1433B_HUMAN tyrosine 3-monooxygenase/tryptophan 1 activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction centrosome|cytosol|melanosome|perinuclear region of cytoplasm histone deacetylase binding|phosphoserine binding|protein domain specific binding kidney(2)|ovary(1)|breast(1) 4 Myeloproliferative disorder(115;0.0122) TCTAGGGAATGACAATGGATA 0.473 NA 20 91 0 0 0 0 NFATC2 4773 broad.mit.edu 37 20 50139752 50139752 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr20:50139752C>T uc002xwd.2 - 2 1248 c.1028G>A c.(1027-1029)CGC>CAC p.R343H NFATC2_uc002xwc.2_Missense_Mutation_p.R343H|NFATC2_uc010zyv.1_Missense_Mutation_p.R124H|NFATC2_uc010zyw.1_Missense_Mutation_p.R124H|NFATC2_uc010zyx.1_Missense_Mutation_p.R323H|NFATC2_uc010zyy.1_Missense_Mutation_p.R124H|NFATC2_uc010zyz.1_Missense_Mutation_p.R124H|NFATC2_uc002xwe.2_Missense_Mutation_p.R323H NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 343 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) GTAGATGTGGCGAGGCAGGCC 0.682 NA 6 149 0 0 0 0 TPTE 7179 broad.mit.edu 37 21 10934945 10934945 + Missense_Mutation SNP T T A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr21:10934945T>A uc002yip.1 - 15 1216 c.848A>T c.(847-849)AAT>ATT p.N283I TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.N265I|TPTE_uc002yir.1_Missense_Mutation_p.N245I|TPTE_uc010gkv.1_Missense_Mutation_p.N145I NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 283 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACTGCATAGATTGTAGACTCG 0.328 NA 15 237 0 0 0 0 SERPIND1 3053 broad.mit.edu 37 22 21133858 21133858 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr22:21133858C>T uc002ztb.1 + 2 325 c.258C>T c.(256-258)TTC>TTT p.F86F PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Silent_p.F114F NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 86 2 X 11 AA approximate repeats, Asp/Glu- rich (acidic) (hirudin-like). blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) AGAAGATATTCAGTGAAGACG 0.527 NA 29 76 0 0 0 0 CNTN6 27255 broad.mit.edu 37 3 1427421 1427421 + Missense_Mutation SNP T T C TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr3:1427421T>C uc003boz.2 + 20 2911 c.2644T>C c.(2644-2646)TAC>CAC p.Y882H CNTN6_uc011asj.1_Missense_Mutation_p.Y810H|CNTN6_uc003bpa.2_Missense_Mutation_p.Y882H NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 882 Fibronectin type-III 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CGTAAGAGCTTACAACACTGC 0.443 NA 69 200 0 0 0 0 SLC22A14 9389 broad.mit.edu 37 3 38357068 38357068 + Silent SNP C C G TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr3:38357068C>G uc010hhc.1 + 9 1440 c.1398C>G c.(1396-1398)CTC>CTG p.L466L SLC22A14_uc003cib.2_Silent_p.L466L|SLC22A14_uc011ayo.1_RNA NM_004803 NP_004794 Q9Y267 S22AE_HUMAN organic cation transporter like 4 466 Extracellular (Potential). integral to plasma membrane organic cation transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) GCCTCAGACTCAAGTGGCCAC 0.592 NA 6 89 0 0 0 0 ZNF445 353274 broad.mit.edu 37 3 44491047 44491047 + Missense_Mutation SNP G G C TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr3:44491047G>C uc003cnf.2 - 7 1237 c.889C>G c.(889-891)CAG>GAG p.Q297E ZNF445_uc011azv.1_Missense_Mutation_p.Q285E|ZNF445_uc011azw.1_Missense_Mutation_p.Q297E NM_181489 NP_852466 P59923 ZN445_HUMAN zinc finger protein 445 297 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) TGAGCTGCCTGCATGTTCAGG 0.532 NA 3 89 0 0 0 0 HTR1F 3355 broad.mit.edu 37 3 88039929 88039929 + Missense_Mutation SNP C C G TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr3:88039929C>G uc003dqr.2 + 2 188 c.30C>G c.(28-30)AAC>AAG p.N10K NM_000866 NP_000857 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F 10 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity ovary(3) 3 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) CTGATCAAAACTTGACCTCAG 0.373 NA 45 107 0 0 0 0 NPHP3 27031 broad.mit.edu 37 3 132407968 132407968 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr3:132407968G>A uc003epe.1 - 20 2910 c.2833C>T c.(2833-2835)CTT>TTT p.L945F NPHP3_uc003epd.1_Missense_Mutation_p.L187F NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 945 TPR 4. maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 GTTTCATAAAGATCAGCTAAG 0.448 NA 31 220 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr3:178952085A>G uc003fjk.2 + 21 3297 c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378 H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 37 77 0 0 0 0 DVL3 1857 broad.mit.edu 37 3 183873499 183873499 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr3:183873499G>A uc003fms.2 + 1 216 c.76G>A c.(76-78)GAG>AAG p.E26K DVL3_uc011bqw.1_Missense_Mutation_p.E26K|DVL3_uc003fmt.2_5'Flank NM_004423 NP_004414 Q92997 DVL3_HUMAN dishevelled 3 26 DIX. canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity ovary(1)|lung(1)|breast(1) 3 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) CCTGCCCGCCGAGCGCGTCAC 0.547 NA 24 84 0 0 0 0 SLIT2 9353 broad.mit.edu 37 4 20619158 20619158 + Missense_Mutation SNP T T A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr4:20619158T>A uc003gpr.1 + 36 4437 c.4233T>A c.(4231-4233)GAT>GAA p.D1411E SLIT2_uc003gps.1_Missense_Mutation_p.D1403E NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1411 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 AAGAGGAGGATCTGTTTAACC 0.552 NA 16 51 0 0 0 0 KLF3 51274 broad.mit.edu 37 4 38691484 38691484 + Nonsense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr4:38691484C>T uc003gth.3 + 4 1011 c.679C>T c.(679-681)CAA>TAA p.Q227* KLF3_uc003gtg.2_Nonsense_Mutation_p.Q227* NM_016531 NP_057615 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 227 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1) 2 GTCCCCCCCGCAAGCATTGTT 0.428 NA 61 205 0 0 0 0 ANKRD17 26057 broad.mit.edu 37 4 73990709 73990709 + Missense_Mutation SNP T T A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr4:73990709T>A uc003hgp.2 - 18 3530 c.3413A>T c.(3412-3414)AAT>ATT p.N1138I ANKRD17_uc003hgo.2_Missense_Mutation_p.N1025I|ANKRD17_uc003hgq.2_Missense_Mutation_p.N887I|ANKRD17_uc003hgr.2_Missense_Mutation_p.N1137I|ANKRD17_uc011cbd.1_Missense_Mutation_p.N703I NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 1138 ANK 17. interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GTCTGCACCATTGTCCAGCAA 0.463 NA 67 172 0 0 0 0 HSD17B11 51170 broad.mit.edu 37 4 88312201 88312201 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr4:88312201G>A uc003hqp.2 - 1 255 c.22C>T c.(22-24)CTC>TTC p.L8F NM_016245 NP_057329 Q8NBQ5 DHB11_HUMAN estradiol 17-beta-dehydrogenase 11 8 androgen catabolic process|steroid biosynthetic process cytoplasm|extracellular region binding|estradiol 17-beta-dehydrogenase activity ovary(2) 2 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000339) AGAAGCAGGAGGATGTCCAGA 0.443 NA 18 57 0 0 0 0 AGXT2L1 64850 broad.mit.edu 37 4 109667991 109667991 + Missense_Mutation SNP T T A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr4:109667991T>A uc003hzc.2 - 10 1280 c.1099A>T c.(1099-1101)ATT>TTT p.I367F AGXT2L1_uc010imc.2_Missense_Mutation_p.I361F|AGXT2L1_uc011cfm.1_Missense_Mutation_p.I327F|AGXT2L1_uc011cfn.1_Missense_Mutation_p.I294F|AGXT2L1_uc011cfo.1_Missense_Mutation_p.I309F NM_031279 NP_112569 Q8TBG4 AT2L1_HUMAN alanine-glyoxylate aminotransferase 2-like 1 367 cellular amino acid metabolic process mitochondrion alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000281) TCAATTCCAATAAAAAGGCCA 0.448 NA 67 202 0 0 0 0 SEC24B 10427 broad.mit.edu 37 4 110433145 110433145 + Silent SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr4:110433145G>A uc003hzk.2 + 9 1864 c.1809G>A c.(1807-1809)GTG>GTA p.V603V SEC24B_uc003hzl.2_Silent_p.V568V|SEC24B_uc011cfp.1_Silent_p.V633V|SEC24B_uc011cfq.1_Silent_p.V602V|SEC24B_uc011cfr.1_Silent_p.V567V NM_006323 NP_006314 O95487 SC24B_HUMAN SEC24 (S. cerevisiae) homolog B isoform a 603 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding ovary(2)|large_intestine(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) ATACCATTGTGAGGTGCCGAT 0.388 NA 40 109 0 0 0 0 CFI 3426 broad.mit.edu 37 4 110667591 110667591 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr4:110667591G>A uc003hzr.3 - 11 1424 c.1216C>T c.(1216-1218)CGT>TGT p.R406C CFI_uc003hzq.2_Missense_Mutation_p.R203C|CFI_uc011cft.1_Missense_Mutation_p.R414C|CFI_uc003hzs.3_Missense_Mutation_p.R399C NM_000204 NP_000195 P05156 CFAI_HUMAN complement factor I preproprotein 406 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) ATTACTATACGTTTAAGGTCG 0.333 NA 22 72 0 0 0 0 MAML3 55534 broad.mit.edu 37 4 140810676 140810676 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr4:140810676C>T uc003ihz.1 - 3 2654 c.1902G>A c.(1900-1902)CAG>CAA p.Q634Q MAML3_uc011chd.1_Intron NM_018717 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 634 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity ovary(1) 1 all_hematologic(180;0.162) gctgttgctgctgctgttgct 0.423 NA 18 42 0 0 0 0 FNIP2 57600 broad.mit.edu 37 4 159791528 159791528 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr4:159791528C>T uc003iqe.3 + 14 3039 c.2856C>T c.(2854-2856)TGC>TGT p.C952C NM_020840 NP_065891 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 952 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding 0 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) CGGGCTACTGCCCCACATACA 0.522 NA 4 110 0 0 0 0 CDH12 1010 broad.mit.edu 37 5 21760760 21760760 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr5:21760760C>T uc010iuc.2 - 10 1998 c.1540G>A c.(1540-1542)GAC>AAC p.D514N CDH12_uc011cno.1_Missense_Mutation_p.D474N|CDH12_uc003jgk.2_Missense_Mutation_p.D514N|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 514 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 AGATCTCGGTCTGCAGCACTG 0.403 NA HNSCC(59;0.17) 62 180 0 0 0 0 RNASEN 29102 broad.mit.edu 37 5 31515178 31515178 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr5:31515178C>T uc003jhg.2 - 7 1566 c.1207G>A c.(1207-1209)GAA>AAA p.E403K RNASEN_uc003jhh.2_Missense_Mutation_p.E366K|RNASEN_uc003jhi.2_Missense_Mutation_p.E366K|RNASEN_uc010iui.1_Missense_Mutation_p.E326K NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 403 gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 TCTTCTTCTTCCTCCTCATTC 0.468 NA 37 192 0 0 0 0 UGT3A2 167127 broad.mit.edu 37 5 36037913 36037913 + Silent SNP G G T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr5:36037913G>T uc003jjz.1 - 6 1374 c.1281C>A c.(1279-1281)ATC>ATA p.I427I UGT3A2_uc011cos.1_Silent_p.I393I|UGT3A2_uc011cot.1_Silent_p.I125I NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 427 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1) 6 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGTCTTCCATGATTTGTTTCA 0.413 NA 61 239 2.03e-37 2.31e-37 1 0 NIPBL 25836 broad.mit.edu 37 5 36986340 36986340 + Missense_Mutation SNP A A G TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr5:36986340A>G uc003jkl.3 + 10 3557 c.3058A>G c.(3058-3060)AGA>GGA p.R1020G NIPBL_uc003jkk.3_Missense_Mutation_p.R1020G|NIPBL_uc003jkm.1_Missense_Mutation_p.R899G NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 1020 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TATTAAAGATAGAGAGGACAA 0.299 NA 53 156 0 0 0 0 CMYA5 202333 broad.mit.edu 37 5 79031362 79031362 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr5:79031362C>T uc003kgc.2 + 2 6846 c.6774C>T c.(6772-6774)GAC>GAT p.D2258D NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2258 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AATCTGGTGACGGTCAAAACG 0.338 NA 29 123 0 0 0 0 MCTP1 79772 broad.mit.edu 37 5 94204039 94204039 + Missense_Mutation SNP A A G TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr5:94204039A>G uc003kkx.2 - 17 2435 c.2435T>C c.(2434-2436)GTG>GCG p.V812A MCTP1_uc003kkv.2_Missense_Mutation_p.V591A|MCTP1_uc003kkw.2_Missense_Mutation_p.V545A|MCTP1_uc003kkz.2_Missense_Mutation_p.V473A|MCTP1_uc003kku.2_Missense_Mutation_p.V328A NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 isoform L 812 Helical; (Potential). calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(2) 2 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TGATCATACCACAAAAGCAGC 0.279 NA 12 47 0 0 0 0 FAM81B 153643 broad.mit.edu 37 5 94764361 94764361 + Silent SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr5:94764361G>A uc003kla.1 + 6 757 c.711G>A c.(709-711)GAG>GAA p.E237E FAM81B_uc010jbe.1_Silent_p.E33E NM_152548 NP_689761 Q96LP2 FA81B_HUMAN hypothetical protein LOC153643 237 ovary(1)|skin(1) 2 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) TCAGGCAAGAGCACCGGCAAA 0.408 NA 7 240 0 0 0 0 SNX2 6643 broad.mit.edu 37 5 122135441 122135441 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr5:122135441C>T uc003kte.2 + 3 330 c.281C>T c.(280-282)TCG>TTG p.S94L SNX2_uc011cwn.1_5'UTR NM_003100 NP_003091 O60749 SNX2_HUMAN sorting nexin 2 94 cell communication|endocytosis|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding|protein transporter activity kidney(1) 1 all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109) ATCCTATCCTCGGAACCTTCT 0.438 NA 60 233 0 0 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222262 140222262 + Silent SNP T T C TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr5:140222262T>C uc003lhs.2 + 1 1356 c.1356T>C c.(1354-1356)GCT>GCC p.A452A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.A452A NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 452 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGACAATGCTCCGGCGTTCG 0.672 NA 37 101 0 0 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229433 140229433 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr5:140229433C>T uc003lhu.2 + 1 2077 c.1353C>T c.(1351-1353)AAC>AAT p.N451N PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.N451N NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 451 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAACGACAACGCACCAGCGT 0.672 NA 6 155 0 0 0 0 PCDHB2 56133 broad.mit.edu 37 5 140475977 140475977 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr5:140475977G>A uc003lil.2 + 1 1741 c.1603G>A c.(1603-1605)GCC>ACC p.A535T PCDHB2_uc003lim.1_Missense_Mutation_p.A196T NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 535 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGCGTGGGCGCCGCAGACCG 0.692 NA 16 90 0 0 0 0 PCDHB11 56125 broad.mit.edu 37 5 140579470 140579470 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr5:140579470C>T uc003liy.2 + 1 123 c.123C>T c.(121-123)AGC>AGT p.S41S PCDHB11_uc011daj.1_Intron NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 41 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATGCAGAGCGGGAGTTTTG 0.522 NA 36 123 0 0 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711947 140711947 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr5:140711947G>A uc003lji.1 + 1 1696 c.1696G>A c.(1696-1698)GCC>ACC p.A566T PCDHGA1_uc011dan.1_Missense_Mutation_p.A566T NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 566 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGTACCCCGCCCTCCCCAC 0.667 NA 78 201 0 0 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140743969 140743969 + Nonsense_Mutation SNP C C A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr5:140743969C>A uc003lju.1 + 1 72 c.72C>A c.(70-72)TGC>TGA p.C24* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Nonsense_Mutation_p.C24* NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 24 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACGCTGTGCGAGCCAGGAT 0.627 NA 13 43 2.27e-07 2.45e-07 1 0 PCDHGA10 56106 broad.mit.edu 37 5 140794626 140794626 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr5:140794626C>T uc003lkl.1 + 1 1884 c.1884C>T c.(1882-1884)GGC>GGT p.G628G PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.G628G|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 628 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCACACGGGCGAGGTGCGCA 0.697 NA 28 104 0 0 0 0 PCDH12 51294 broad.mit.edu 37 5 141336333 141336333 + Silent SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr5:141336333G>A uc003llx.2 - 1 2295 c.1084C>T c.(1084-1086)CTG>TTG p.L362L NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 362 Cadherin 4.|Extracellular (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGACACCAGTGATGGCTGG 0.502 NA 46 169 0 0 0 0 GEMIN5 25929 broad.mit.edu 37 5 154305443 154305443 + Silent SNP G G T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr5:154305443G>T uc003lvx.3 - 8 1355 c.1272C>A c.(1270-1272)GGC>GGA p.G424G GEMIN5_uc011ddk.1_Silent_p.G423G NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN gemin 5 424 WD 8. ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding skin(2)|ovary(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGGACTTCACGCCTTGCCAAA 0.373 NA 25 101 1.64e-13 1.83e-13 1 0 MAS1L 116511 broad.mit.edu 37 6 29454873 29454873 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr6:29454873C>T uc011dlq.1 - 1 807 c.807G>A c.(805-807)TCG>TCA p.S269S NM_052967 NP_443199 P35410 MAS1L_HUMAN MAS1 oncogene-like 269 Helical; Name=6; (Potential). cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity ovary(7)|lung(2) 9 ACATGGGGGCCGAGATCTGCA 0.517 NA 18 60 0 0 0 0 DDR1 780 broad.mit.edu 37 6 30865889 30865889 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr6:30865889C>T uc003nrr.2 + 17 2515 c.2256C>T c.(2254-2256)TCC>TCT p.S752S DDR1_uc010jse.2_Silent_p.S715S|DDR1_uc003nrq.2_Silent_p.S715S|DDR1_uc003nrs.2_Silent_p.S752S|DDR1_uc003nrt.2_Silent_p.S715S|DDR1_uc011dms.1_Silent_p.S733S|DDR1_uc003nru.2_Silent_p.S715S|DDR1_uc003nrv.2_Silent_p.S758S|DDR1_uc003nrw.1_Silent_p.S487S|DDR1_uc003nrz.1_Silent_p.S77S NM_013993 NP_054699 Q08345 DDR1_HUMAN discoidin domain receptor family, member 1 752 Cytoplasmic (Potential).|Protein kinase. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1) 9 Imatinib(DB00619) AGATCGCCTCCGGCATGCGCT 0.562 NA 6 47 0 0 0 0 RDBP 7936 broad.mit.edu 37 6 31922355 31922355 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr6:31922355C>T uc003nyk.2 - 7 923 c.719G>A c.(718-720)CGA>CAA p.R240Q RDBP_uc011dot.1_Missense_Mutation_p.R210Q|RDBP_uc003nyl.1_Missense_Mutation_p.R180Q|RDBP_uc003nym.1_Missense_Mutation_p.R235Q NM_002904 NP_002895 P18615 NELFE_HUMAN RD RNA-binding protein 240 29.|30 X 2 AA approximate tandem repeats of R-[DSNE]. positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction mitochondrion|nucleoplasm nucleotide binding|protein binding|RNA binding 0 Ctctcggtctcggtctcgatc 0.224 NA 15 38 0 0 0 0 EGFL8 80864 broad.mit.edu 37 6 32134330 32134330 + Missense_Mutation SNP T T C TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr6:32134330T>C uc003oab.1 + 3 215 c.157T>C c.(157-159)TAC>CAC p.Y53H PPT2_uc003nzy.1_RNA|PPT2_uc010jtu.1_3'UTR|EGFL8_uc003oac.1_Missense_Mutation_p.Y53H NM_030652 NP_085155 Q99944 EGFL8_HUMAN NG3 protein precursor 53 EMI. extracellular region|integral to membrane calcium ion binding 0 CAACGAGTCCTACAGCCAACC 0.592 NA 30 128 0 0 0 0 DAXX 1616 broad.mit.edu 37 6 33288742 33288742 + Silent SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr6:33288742G>A uc003oec.2 - 3 1014 c.810C>T c.(808-810)CGC>CGT p.R270R DAXX_uc011drd.1_Silent_p.R195R|DAXX_uc011dre.1_Silent_p.R282R|DAXX_uc003oed.2_Silent_p.R270R|DAXX_uc010juw.2_Silent_p.R195R NM_001350 NP_001341 Q9UER7 DAXX_HUMAN death-domain associated protein isoform a 270 activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding pancreas(18)|ovary(2)|skin(2)|prostate(1) 23 GCCGCTCAATGCGCCTGTTAA 0.597 NA Mis|F|N Pancreatic neuroendocrine tumors 51 121 0 0 0 0 GPRC6A 222545 broad.mit.edu 37 6 117127943 117127943 + Missense_Mutation SNP T T C TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr6:117127943T>C uc003pxj.1 - 3 947 c.925A>G c.(925-927)ACC>GCC p.T309A GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.T309A NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 309 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) GTAATCTTGGTGGCAGTTGAC 0.348 NA 38 130 0 0 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166831722 166831722 + Silent SNP G G A rs149521975 byFrequency TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr6:166831722G>A uc003qvb.1 - 19 2148 c.1929C>T c.(1927-1929)GAC>GAT p.D643D RPS6KA2_uc011ego.1_Silent_p.D554D|RPS6KA2_uc010kkl.1_Silent_p.D554D|RPS6KA2_uc003qvc.1_Silent_p.D651D|RPS6KA2_uc003qvd.1_Silent_p.D668D|RPS6KA2_uc010kkk.1_Silent_p.D75D NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 643 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) CTTTAGCTGCGTCAGATATCG 0.473 NA 42 149 0 0 0 0 THSD7A 221981 broad.mit.edu 37 7 11630143 11630143 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr7:11630143C>T uc003ssf.3 - 4 1649 c.1397G>A c.(1396-1398)TGC>TAC p.C466Y NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 466 Extracellular (Potential).|TSP type-1 4. integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GGCCTGCACGCAGTACACCTC 0.532 NA HNSCC(18;0.044) 19 76 0 0 0 0 CCDC129 223075 broad.mit.edu 37 7 31617732 31617732 + Missense_Mutation SNP T T C TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr7:31617732T>C uc003tcj.1 + 8 1847 c.854T>C c.(853-855)GTT>GCT p.V285A CCDC129_uc011kad.1_Missense_Mutation_p.V295A|CCDC129_uc003tci.1_Intron|CCDC129_uc011kae.1_Missense_Mutation_p.V311A|CCDC129_uc003tck.1_Missense_Mutation_p.V193A NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 285 0 GAAGTTTTTGTTCCCTTTACA 0.438 NA 15 28 0 0 0 0 ZNF716 441234 broad.mit.edu 37 7 57528992 57528992 + Silent SNP C C G TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr7:57528992C>G uc011kdi.1 + 4 937 c.825C>G c.(823-825)GGC>GGG p.G275G NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 AAGAACGTGGCAAAGTCTTTA 0.423 NA 13 39 0 0 0 0 ALKBH4 54784 broad.mit.edu 37 7 102097843 102097843 + Nonstop_Mutation SNP A A T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr7:102097843A>T uc003uzl.2 - 3 912 c.907T>A c.(907-909)TGA>AGA p.*303R ALKBH4_uc003uzm.2_Nonstop_Mutation_p.*230R NM_017621 NP_060091 Q9NXW9 ALKB4_HUMAN alkB, alkylation repair homolog 4 303 cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GAGGCGGTTCACACGGGTCTT 0.602 NA 20 95 0 0 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175526 143175526 + Silent SNP C C A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr7:143175526C>A uc003wdc.1 + 1 561 c.561C>A c.(559-561)GTC>GTA p.V187V uc003wda.2_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN taste receptor, type 2, member 41 187 Helical; Name=5; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity pancreas(1)|skin(1) 2 Melanoma(164;0.15) TGAAACTGGTCATCTGGTCAA 0.378 NA 20 93 5.04e-11 5.58e-11 1 0 DCAF4L2 138009 broad.mit.edu 37 8 88886033 88886033 + Missense_Mutation SNP C C A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr8:88886033C>A uc003ydz.2 - 1 264 c.167G>T c.(166-168)AGG>ATG p.R56M NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 56 ovary(1) 1 GACCTTTTTCCTCTGCATGCA 0.507 NA 70 99 1.27e-28 1.44e-28 1 0 RGS22 26166 broad.mit.edu 37 8 101020655 101020655 + Missense_Mutation SNP A A G TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr8:101020655A>G uc003yjb.1 - 15 2504 c.2309T>C c.(2308-2310)CTT>CCT p.L770P RGS22_uc003yja.1_Missense_Mutation_p.L589P|RGS22_uc003yjc.1_Missense_Mutation_p.L758P|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 770 Poly-Leu. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TGGCTCAAGAAGGAGGAGAAG 0.378 NA 6 230 0 0 0 0 RSPO2 340419 broad.mit.edu 37 8 109001434 109001434 + Missense_Mutation SNP A A G TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr8:109001434A>G uc003yms.2 - 3 791 c.133T>C c.(133-135)TCT>CCT p.S45P RSPO2_uc003ymq.2_5'UTR|RSPO2_uc003ymr.2_Intron NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN R-spondin family, member 2 precursor 45 Wnt receptor signaling pathway extracellular region heparin binding skin(3)|ovary(2)|pancreas(1)|lung(1) 7 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) TTTGAACAAGACAAACAACCC 0.378 NA 19 92 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110439257 110439257 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr8:110439257G>A uc003yne.2 + 25 2976 c.2872G>A c.(2872-2874)GAT>AAT p.D958N NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 958 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTCAGCTGCAGATCTGCAGTT 0.478 NA HNSCC(38;0.096) 35 194 0 0 0 0 TG 7038 broad.mit.edu 37 8 134042151 134042151 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr8:134042151C>T uc003ytw.2 + 41 7163 c.7122C>T c.(7120-7122)GGC>GGT p.G2374G TG_uc010mdw.2_Silent_p.G1133G|TG_uc011ljb.1_Silent_p.G743G|TG_uc011ljc.1_Silent_p.G507G NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2374 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GAGGATTTGGCGGGGACCCTC 0.652 NA 17 40 0 0 0 0 TG 7038 broad.mit.edu 37 8 134144071 134144071 + Silent SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr8:134144071G>A uc003ytw.2 + 46 7919 c.7878G>A c.(7876-7878)GCG>GCA p.A2626A TG_uc010mdw.2_Silent_p.A1385A|TG_uc011ljb.1_Silent_p.A995A|TG_uc011ljc.1_Silent_p.A759A NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2626 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGCTGCTGGCGGATGTTCAGT 0.458 NA 29 95 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr9:21971120G>A uc003zpk.2 - 2 450 c.238C>T c.(238-240)CGA>TGA p.R80* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 80 ANK 3. R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726 R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT) 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 7 9 0 0 0 0 FGD3 89846 broad.mit.edu 37 9 95765216 95765216 + Missense_Mutation SNP C C G TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr9:95765216C>G uc004asw.2 + 4 1091 c.463C>G c.(463-465)CCC>GCC p.P155A FGD3_uc004asx.2_Missense_Mutation_p.P155A|FGD3_uc004asz.2_Missense_Mutation_p.P155A|FGD3_uc004ata.2_5'UTR NM_001083536 NP_001077005 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 155 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(1)|breast(1) 2 GCACTCTGGCCCCCAGAAGCT 0.617 NA 44 306 0 0 0 0 SNX30 401548 broad.mit.edu 37 9 115598545 115598545 + Nonsense_Mutation SNP G G T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr9:115598545G>T uc004bgj.3 + 5 818 c.670G>T c.(670-672)GAG>TAG p.E224* SNX30_uc004bgi.3_5'Flank NM_001012994 NP_001013012 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 224 cell communication|protein transport cytoplasm phosphatidylinositol binding 0 CAGAATGGGCGAGTCAGTCAA 0.507 NA 56 194 5.82e-37 6.62e-37 1 0 BSPRY 54836 broad.mit.edu 37 9 116116596 116116596 + Missense_Mutation SNP C C A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr9:116116596C>A uc004bhg.3 + 2 326 c.278C>A c.(277-279)CCG>CAG p.P93Q BSPRY_uc010muw.2_Missense_Mutation_p.P93Q NM_017688 NP_060158 Q5W0U4 BSPRY_HUMAN B-box and SPRY domain containing 93 calcium ion transport cytoplasm|membrane zinc ion binding breast(1) 1 GACGTCCTGCCGGGGAAGAAT 0.478 NA 14 57 0.000151284 0.000160384 1 0 LHX3 8022 broad.mit.edu 37 9 139090820 139090820 + Silent SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr9:139090820G>A uc004cha.2 - 4 637 c.540C>T c.(538-540)CCC>CCT p.P180P LHX3_uc004cgz.2_Silent_p.P185P NM_178138 NP_835258 Q9UBR4 LHX3_HUMAN LIM homeobox protein 3 isoform a 180 Homeobox. inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) GCGCCGGCTTGGGCGAGGTGT 0.731 NA 8 23 0 0 0 0 TBL1X 6907 broad.mit.edu 37 X 9673050 9673050 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chrX:9673050G>A uc010ndq.2 + 13 1500 c.1132G>A c.(1132-1134)GAC>AAC p.D378N TBL1X_uc004csq.3_Missense_Mutation_p.D327N|TBL1X_uc010ndr.2_Missense_Mutation_p.D327N|TBL1X_uc004csr.2_Missense_Mutation_p.D378N|TBL1X_uc004css.2_Missense_Mutation_p.D329N NM_001139466 NP_001132938 O60907 TBL1X_HUMAN transducin beta-like 1X isoform a 378 WD 4. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Hepatocellular(5;0.000888) CCTTGATGTGGACTGGCAGAA 0.527 NA 47 152 0 0 0 0 MAGEB16 139604 broad.mit.edu 37 X 35821252 35821252 + Silent SNP G G C TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chrX:35821252G>C uc010ngt.1 + 2 1218 c.939G>C c.(937-939)CTG>CTC p.L313L NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 313 lung(3)|ovary(2)|breast(1)|skin(1) 7 CGGAAGCTCTGAAAGAGGAAG 0.493 NA 7 27 0 0 0 0 ZNF41 7592 broad.mit.edu 37 X 47308010 47308010 + Missense_Mutation SNP C C G TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chrX:47308010C>G uc004dhs.3 - 4 1352 c.1285G>C c.(1285-1287)GAA>CAA p.E429Q ZNF41_uc004dhu.3_Missense_Mutation_p.E421Q|ZNF41_uc004dht.3_Missense_Mutation_p.E301Q|ZNF41_uc004dhv.3_Missense_Mutation_p.E397Q|ZNF41_uc004dhw.3_Missense_Mutation_p.E389Q|ZNF41_uc004dhy.3_Missense_Mutation_p.E387Q|ZNF41_uc004dhx.3_Missense_Mutation_p.E387Q|ZNF41_uc011mlm.1_Missense_Mutation_p.E301Q NM_153380 NP_700359 P51814 ZNF41_HUMAN zinc finger protein 41 429 C2H2-type 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 all_lung(315;0.000129) TTTCCACATTCACTGCATTCA 0.408 NA 35 147 0 0 0 0 FGD1 2245 broad.mit.edu 37 X 54492271 54492271 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chrX:54492271C>T uc004dtg.2 - 7 2089 c.1355G>A c.(1354-1356)CGC>CAC p.R452H FGD1_uc011moi.1_Missense_Mutation_p.R210H NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 452 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 GTCTCCAATGCGTGGATAGCG 0.557 NA 16 82 0 0 0 0 ACRC 93953 broad.mit.edu 37 X 70830641 70830641 + Silent SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chrX:70830641G>A uc004eae.2 + 11 2223 c.1722G>A c.(1720-1722)CAG>CAA p.Q574Q BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 574 nucleus ovary(3) 3 Renal(35;0.156) CCAAGATCCAGATTGGCTTGA 0.507 NA 8 33 0 0 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963606 73963607 + Missense_Mutation DNP CT CT GG TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chrX:73963606_73963607CT>GG uc004eby.2 - 3 1402_1403 c.785_786AG>CC c.(784-786)GAG>GCC p.E262A NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 262 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 TAATAAAAGTCTCGAAGTAACC 0.391 NA 10 304 0 0 0 0 ATP7A 538 broad.mit.edu 37 X 77254135 77254135 + Silent SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chrX:77254135C>T uc004ecx.3 + 5 1657 c.1497C>T c.(1495-1497)TGC>TGT p.C499C ATP7A_uc004ecw.2_Silent_p.C499C NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 499 HMA 5.|Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 GCATGACTTGCGCTTCCTGTG 0.408 NA 71 250 0 0 0 0 SH2D1A 4068 broad.mit.edu 37 X 123480565 123480565 + Missense_Mutation SNP C C A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chrX:123480565C>A uc004euf.3 + 1 418 c.73C>A c.(73-75)CTG>ATG p.L25M SH2D1A_uc004euh.3_Missense_Mutation_p.L25M|SH2D1A_uc004eug.3_RNA|SH2D1A_uc010nqw.2_RNA|SH2D1A_uc004eui.3_RNA|SH2D1A_uc010nqx.2_Intron NM_002351 NP_002342 O60880 SH21A_HUMAN SH2 domain protein 1A isoform 1 25 SH2. cell-cell signaling|cellular defense response cytoplasm SH3/SH2 adaptor activity 0 TGCCACTGGGCTGGATGGCAG 0.597 NA X-linked_Lymphoproliferative_syndrome 19 97 2.46e-09 2.71e-09 1 0 CXorf48 54967 broad.mit.edu 37 X 134305035 134305035 + Nonsense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chrX:134305035G>A uc004eyk.1 - 1 717 c.61C>T c.(61-63)CGA>TGA p.R21* CXorf48_uc004eyl.1_Nonsense_Mutation_p.R21* NM_001031705 NP_001026875 Q8WUE5 CX048_HUMAN hypothetical protein LOC54967 isoform 1 21 0 Acute lymphoblastic leukemia(192;0.000127) GGGCCCTGTCGCTCTGCAGGG 0.642 NA 45 117 0 0 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135757211 135757211 + Missense_Mutation SNP C C T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chrX:135757211C>T uc004fab.2 - 19 2452 c.1990G>A c.(1990-1992)GAA>AAA p.E664K ARHGEF6_uc011mwd.1_Missense_Mutation_p.E537K|ARHGEF6_uc011mwe.1_Missense_Mutation_p.E510K NM_004840 NP_004831 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor 6 664 apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) CAGTAGGCTTCGATCACTTTA 0.413 NA 16 76 0 0 0 0 MAMLD1 10046 broad.mit.edu 37 X 149639448 149639448 + Missense_Mutation SNP G G A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chrX:149639448G>A uc004fee.1 + 3 1679 c.1603G>A c.(1603-1605)GAG>AAG p.E535K MAMLD1_uc011mxt.1_Missense_Mutation_p.E497K|MAMLD1_uc011mxu.1_Missense_Mutation_p.E510K|MAMLD1_uc011mxv.1_Missense_Mutation_p.E510K|MAMLD1_uc011mxw.1_Missense_Mutation_p.E462K NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 535 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) AGGAGCCACGGAGCCATTTAC 0.527 NA 57 164 0 0 0 0 PASD1 139135 broad.mit.edu 37 X 150844493 150844493 + Nonsense_Mutation SNP G G T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chrX:150844493G>T uc004fev.3 + 16 2532 c.2200G>T c.(2200-2202)GAG>TAG p.E734* NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 734 nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) GGTAGGAGTCGAGGGACCTCC 0.532 NA 56 261 2.79e-39 3.19e-39 1 0 F8 2157 broad.mit.edu 37 X 154194878 154194878 + Missense_Mutation SNP T T C TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chrX:154194878T>C uc004fmt.2 - 8 1265 c.1094A>G c.(1093-1095)TAT>TGT p.Y365C NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 365 Y -> C (in HEMA; mild). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) ATCATCATCATAGTCTTCCGC 0.423 NA 40 165 0 0 0 0 KRT5 3852 broad.mit.edu 37 12 52913851 52913852 + Frame_Shift_Ins INS - - ATCAA TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr12:52913851_52913852insATCAA uc001san.2 - 1 392_393 c.229_230insTTGAT c.(229-231)AGCfs p.S77fs KRT5_uc009zmh.2_Frame_Shift_Ins_p.S77fs NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 77 Head.|Gly-rich. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) ACCACTAGTGCTGATGGATATC 0.401 NA 28 169 --- --- --- --- NA NA NA NA KRT5 3852 broad.mit.edu 37 12 52913991 52913992 + Frame_Shift_Ins INS - - GT TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr12:52913991_52913992insGT uc001san.2 - 1 252_253 c.89_90insAC c.(88-90)ACCfs p.T30fs KRT5_uc009zmh.2_Frame_Shift_Ins_p.T30fs NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 30 Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) AGGTGAAGCTGGTGCGGGAGAC 0.663 NA 15 68 --- --- --- --- NA NA NA NA SNRPN 6638 broad.mit.edu 37 15 25222159 25222159 + Frame_Shift_Del DEL G G - TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr15:25222159delG uc001ywp.1 + 10 1293 c.403delG c.(403-405)GGGfs p.G135fs SNRPN_uc001ywq.1_Frame_Shift_Del_p.G135fs|SNRPN_uc001ywr.1_Frame_Shift_Del_p.G135fs|SNRPN_uc001yws.1_Frame_Shift_Del_p.G135fs|SNRPN_uc001ywt.1_Frame_Shift_Del_p.G135fs|SNRPN_uc001ywv.1_Frame_Shift_Del_p.G138fs|SNRPN_uc001yww.1_Frame_Shift_Del_p.G135fs|SNRPN_uc001ywx.1_Frame_Shift_Del_p.G135fs|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR NM_022807 NP_073718 P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 135 RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding ovary(1) 1 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) CCGAGGAGTTGGGGGACCATC 0.557 NA Prader-Willi_syndrome 21 89 --- --- --- --- NA NA NA NA TTN 7273 broad.mit.edu 37 2 179612040 179612040 + Frame_Shift_Del DEL G G - TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr2:179612040delG uc002unb.2 - 46 15311 c.15087delC c.(15085-15087)TCCfs p.S5029fs TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTAAAGGTGTGGAATATCTTT 0.408 NA 45 123 --- --- --- --- NA NA NA NA CADPS 8618 broad.mit.edu 37 3 62860609 62860610 + Frame_Shift_Del DEL GC GC - TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr3:62860609_62860610delGC uc003dll.2 - 1 455_456 c.95_96delGC c.(94-96)CGCfs p.R32fs CADPS_uc003dlm.2_Frame_Shift_Del_p.R32fs|CADPS_uc003dln.2_Frame_Shift_Del_p.R32fs NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 32 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TGGGAGACAGGCGCGCGCCGGA 0.535 NA 7 10 --- --- --- --- NA NA NA NA GPR98 84059 broad.mit.edu 37 5 89947506 89947507 + Frame_Shift_Ins INS - - A TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr5:89947506_89947507insA uc003kju.2 + 18 3471_3472 c.3375_3376insA c.(3373-3378)CCCATAfs p.P1125fs GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 1125_1126 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTCTGGAGCCCATAGACAAAGC 0.342 NA 10 42 --- --- --- --- NA NA NA NA SLC25A2 83884 broad.mit.edu 37 5 140682600 140682610 + Frame_Shift_Del DEL GGGATTGCTCG GGGATTGCTCG - TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr5:140682600_140682610delGGGATTGCTCG uc003ljf.2 - 1 1003_1013 c.823_833delCGAGCAATCCC c.(823-834)CGAGCAATCCCTfs p.R275fs NM_031947 NP_114153 Q9BXI2 ORNT2_HUMAN solute carrier family 25 member 2 275_278 Solcar 3. mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity ovary(1) 1 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) CCCATTGGCAGGGATTGCTCGAATCATAGTA 0.441 NA 12 47 --- --- --- --- NA NA NA NA CTGF 1490 broad.mit.edu 37 6 132270566 132270567 + Frame_Shift_Ins INS - - T TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr6:132270566_132270567insT uc003qcz.2 - 5 1093_1094 c.887_888insA c.(886-888)CACfs p.H296fs NM_001901 NP_001892 P29279 CTGF_HUMAN connective tissue growth factor precursor 296 CTCK.|Heparin-binding. cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding plasma membrane|proteinaceous extracellular matrix heparin binding|insulin-like growth factor binding 0 Breast(56;0.0602) GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169) TGGTGGTTCTGTGGGGGGTGCA 0.53 NA 64 287 --- --- --- --- NA NA NA NA RIMS2 9699 broad.mit.edu 37 8 105160892 105160892 + Frame_Shift_Del DEL A A - TCGA-CN-5373-01A-01D-1434-08 TCGA-CN-5373-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 00988676-1e9b-4e00-b4aa-a8f86c21b206 9937f05c-99cc-491d-88cf-7483e30546ed g.chr8:105160892delA uc003yls.2 + 23 3445 c.3204delA c.(3202-3204)ACAfs p.T1068fs RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Frame_Shift_Del_p.T1057fs|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGAACATGACAAAAAGCACCA 0.468 NA HNSCC(12;0.0054) 16 70 --- --- --- --- NA NA NA NA