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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut ACTRT2 140625 broad.mit.edu 37 1 2939246 2939246 + Silent SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:2939246G>T uc001ajz.2 + 1 1201 c.996G>T c.(994-996)ACG>ACT p.T332T NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN actin-related protein M2 332 cytoplasm|cytoskeleton 0 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) TCAAGATCACGGCTCCCCCCG 0.617 NA 63 96 1.08141e-31 1.66632e-31 0.048971 1 0 TAS1R2 80834 broad.mit.edu 37 1 19181198 19181198 + Missense_Mutation SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:19181198G>A uc001bba.1 - 3 767 c.766C>T c.(766-768)CGC>TGC p.R256C NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 256 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GTCACCAGGCGCTGGCGCTCC 0.637 NA 7 33 0 0 0.038147 0 0 WNT4 54361 broad.mit.edu 37 1 22456296 22456296 + Silent SNP C C G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:22456296C>G uc001bfs.3 - 2 230 c.126G>C c.(124-126)ACG>ACC p.T42T WNT4_uc010odt.1_5'UTR NM_030761 NP_110388 P56705 WNT4_HUMAN wingless-type MMTV integration site family, 42 adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity ovary(1) 1 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) GTTTCTCGCACGTCTCCTCCT 0.622 NA 62 135 0 0 0.048971 0 0 C1orf128 57095 broad.mit.edu 37 1 24112859 24112859 + Silent SNP C C T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:24112859C>T uc001bhq.2 + 5 610 c.480C>T c.(478-480)TTC>TTT p.F160F C1orf128_uc010oeb.1_Silent_p.F67F NM_020362 NP_065095 Q9GZP4 PITH1_HUMAN chromosome 1 open reading frame 128 160 PITH. 0 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.0034)|all_lung(284;0.00519)|Breast(348;0.0222)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.97e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) CAAAAAACTTCGGAGCAGATA 0.388 NA 17 43 0 0 0.038395 0 0 CSMD2 114784 broad.mit.edu 37 1 34002679 34002679 + Silent SNP C C A rs61801993 byFrequency TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:34002679C>A uc001bxn.1 - 61 9419 c.9390G>T c.(9388-9390)ACG>ACT p.T3130T CSMD2_uc001bxm.1_Silent_p.T3274T NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3130 Sushi 25.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGTCCGCACACGTGGTCAGGG 0.517 NA 4 96 1.23904e-05 1.37984e-05 0.014758 1 0 RAD54L 8438 broad.mit.edu 37 1 46726628 46726628 + Missense_Mutation SNP G G C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:46726628G>C uc009vye.2 + 8 821 c.707G>C c.(706-708)GGG>GCG p.G236A RAD54L_uc001cpl.2_Missense_Mutation_p.G236A|RAD54L_uc001cpm.1_Missense_Mutation_p.G56A NM_001142548 NP_001136020 Q92698 RAD54_HUMAN RAD54-like protein 236 Helicase ATP-binding. meiosis nucleus ATP binding|DNA binding|helicase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) TGGCTCGGAGGGAGGATCCAA 0.532 NA Direct_reversal_of_damage|Homologous_recombination 13 30 0 0 0.09319 0 0 DAB1 1600 broad.mit.edu 37 1 57480898 57480898 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:57480898G>T uc001cys.1 - 14 1776 c.1102C>A c.(1102-1104)CCC>ACC p.P368T DAB1_uc001cyt.1_Missense_Mutation_p.P366T|DAB1_uc001cyq.1_Missense_Mutation_p.P366T|DAB1_uc001cyr.1_Missense_Mutation_p.P282T|DAB1_uc009vzw.1_Missense_Mutation_p.P350T|DAB1_uc009vzx.1_Missense_Mutation_p.P368T NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 401 cell differentiation|nervous system development skin(2)|ovary(1) 3 GTTTGTGTGGGCATGAAGGCG 0.647 NA 39 83 1.03484e-13 1.33439e-13 0.080422 1 0 UBE2U 148581 broad.mit.edu 37 1 64671320 64671320 + Splice_Site SNP A A G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:64671320A>G uc001dbn.1 + 2 311 c.67_splice c.e2-2 p.G23_splice NM_152489 NP_689702 Q5VVX9 UBE2U_HUMAN ubiquitin-conjugating enzyme E2U (putative) ATP binding|protein binding|ubiquitin-protein ligase activity 0 TTTAACTTCAAGGGTATCACT 0.303 NA 24 44 0 0 0.076483 0 0 LOC200030 200030 broad.mit.edu 37 1 148344690 148344690 + Missense_Mutation SNP C C G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:148344690C>G uc001eqf.2 - 2 263 c.228G>C c.(226-228)CAG>CAC p.Q76H LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|NBPF14_uc009wkf.1_Intron|uc001erd.3_Missense_Mutation_p.Q76H|uc001erc.3_Intron|uc010paj.1_Intron|uc010pau.1_5'Flank|uc010pav.1_Missense_Mutation_p.Q76H|uc010paw.1_Intron NM_017940 NP_060410 Q86T75 NBPFB_HUMAN hypothetical protein LOC55672 76 Potential. cytoplasm 0 CCTCCTTGAACTGTCGCTCAT 0.532 NA 20 534 0 0 0.059317 0 0 FLG2 388698 broad.mit.edu 37 1 152329873 152329873 + Missense_Mutation SNP C C T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:152329873C>T uc001ezw.3 - 3 462 c.389G>A c.(388-390)AGA>AAA p.R130K uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 130 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTTGAATGTCTGTAACCTGA 0.478 NA 85 180 0 0 0.048971 0 0 LCE2A 353139 broad.mit.edu 37 1 152671522 152671522 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:152671522G>T uc001faj.2 + 2 196 c.145G>T c.(145-147)GGG>TGG p.G49W NM_178428 NP_848515 Q5TA79 LCE2A_HUMAN late cornified envelope 2A 49 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TCCCAGCTCTGGGGGCTGCTG 0.687 NA 60 156 1.80625e-27 2.69837e-27 0.048971 1 0 SLC25A44 9673 broad.mit.edu 37 1 156169858 156169858 + Missense_Mutation SNP T T C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:156169858T>C uc001fnp.2 + 2 542 c.220T>C c.(220-222)TAC>CAC p.Y74H SLC25A44_uc010phc.1_Intron|SLC25A44_uc009wrr.2_Missense_Mutation_p.Y74H|SLC25A44_uc010phd.1_Intron|SLC25A44_uc010phe.1_Intron NM_014655 NP_055470 Q96H78 S2544_HUMAN solute carrier family 25, member 44 74 Solcar 1.|Helical; Name=2; (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane binding ovary(1) 1 Hepatocellular(266;0.158) CACTGGCCTCTACCGAGGGTT 0.537 NA 18 37 0 0 0.038395 0 0 SMG5 23381 broad.mit.edu 37 1 156244463 156244463 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:156244463C>A uc001foc.3 - 5 618 c.469G>T c.(469-471)GTG>TTG p.V157L NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 157 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) GAGGCAGACACTGGCTTCTTG 0.478 NA 38 75 3.78316e-11 4.58848e-11 0.086207 1 0 OR6N2 81442 broad.mit.edu 37 1 158747268 158747268 + Missense_Mutation SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:158747268G>A uc010pir.1 - 1 158 c.158C>T c.(157-159)GCA>GTA p.A53V NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 53 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) GTGCAGAGCTGCATCCAGTCG 0.468 NA 65 118 0 0 0.048971 0 0 ATP1A4 480 broad.mit.edu 37 1 160141399 160141399 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:160141399G>T uc001fve.3 + 12 2185 c.1706G>T c.(1705-1707)AGC>ATC p.S569I ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.S72I NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 569 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AATCTGCCTAGCAGCTTCTCC 0.473 NA 96 182 8.2166e-39 1.28221e-38 0.048971 1 0 FCGR3B 2215 broad.mit.edu 37 1 161595976 161595976 + Missense_Mutation SNP T T G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:161595976T>G uc009wul.2 - 4 810 c.536A>C c.(535-537)AAA>ACA p.K179T NM_000570 NP_000561 O75015 FCG3B_HUMAN low affinity immunoglobulin gamma Fc region 179 Ig-like C2-type 2. immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGACACATTTTTACTCCCAAC 0.483 NA 8 118 0 0 0.058154 0 0 NUF2 83540 broad.mit.edu 37 1 163315595 163315595 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:163315595G>T uc001gcq.1 + 11 1235 c.935G>T c.(934-936)AGT>ATT p.S312I NUF2_uc001gcp.2_Missense_Mutation_p.S312I|NUF2_uc001gcr.1_Missense_Mutation_p.S312I|NUF2_uc009wvc.1_Intron NM_145697 NP_663735 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component 312 Interaction with the N-terminus of NDC80.|Potential. cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding ovary(3)|skin(1) 4 all_hematologic(923;0.101) AAATTAGCCAGTATCTTAAAG 0.328 NA 22 83 1.64113e-05 1.81936e-05 0.055883 1 0 ILDR2 387597 broad.mit.edu 37 1 166890569 166890569 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:166890569G>T uc001gdx.1 - 9 1315 c.1259C>A c.(1258-1260)ACG>AAG p.T420K NM_199351 NP_955383 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 420 Cytoplasmic (Potential). integral to membrane ovary(1) 1 CGGCACCCCCGTGGCGAAGTT 0.716 NA 13 18 4.93089e-13 6.32496e-13 0.020292 1 0 DUSP27 92235 broad.mit.edu 37 1 167097764 167097764 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:167097764G>T uc001geb.1 + 5 3396 c.3396G>T c.(3394-3396)ATG>ATT p.M1132I NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 1132 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 AGGAAGAAATGGACGATGAAG 0.522 NA 18 32 3.99206e-14 5.17489e-14 0.043863 1 0 TNR 7143 broad.mit.edu 37 1 175355377 175355377 + Missense_Mutation SNP T T A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:175355377T>A uc001gkp.1 - 6 1649 c.1568A>T c.(1567-1569)GAG>GTG p.E523V TNR_uc009wwu.1_Missense_Mutation_p.E523V NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 523 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GGGAATCCACTCCACAAAAGC 0.537 NA 15 30 0 0 0.020292 0 0 TNR 7143 broad.mit.edu 37 1 175375666 175375666 + Missense_Mutation SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:175375666G>A uc001gkp.1 - 1 266 c.185C>T c.(184-186)CCT>CTT p.P62L TNR_uc009wwu.1_Missense_Mutation_p.P62L|TNR_uc010pmz.1_Missense_Mutation_p.P62L NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 62 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GAAGACCACAGGCTGCTCTTT 0.552 NA 67 133 0 0 0.048971 0 0 PAPPA2 60676 broad.mit.edu 37 1 176709187 176709187 + Missense_Mutation SNP C C T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:176709187C>T uc001gkz.2 + 14 5170 c.4006C>T c.(4006-4008)CAC>TAC p.H1336Y PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1336 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 TGTCCTTTTCCACCATACCAC 0.488 NA 65 87 0 0 0.048971 0 0 ASTN1 460 broad.mit.edu 37 1 176863906 176863906 + Missense_Mutation SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:176863906G>A uc001glc.2 - 17 2944 c.2732C>T c.(2731-2733)CCA>CTA p.P911L ASTN1_uc001glb.1_Missense_Mutation_p.P911L|ASTN1_uc001gld.1_Missense_Mutation_p.P911L NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 919 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GATGTATTCTGGGAATGTCAG 0.562 NA 47 88 0 0 0.048971 0 0 FAM5B 57795 broad.mit.edu 37 1 177226442 177226443 + Missense_Mutation DNP GG GG CT TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:177226442_177226443GG>CT uc001glf.2 + 4 903_904 c.591_592GG>CT c.(589-594)CTGGCC>CTCTCC p.A198S FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.2_Missense_Mutation_p.A93S NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 198 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 TGCACCAGCTGGCCGCCTCCTA 0.579 NA 10 33 0 0 0.004672 0 0 ZBTB41 360023 broad.mit.edu 37 1 197141290 197141290 + Missense_Mutation SNP C C G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:197141290C>G uc001gtx.1 - 9 2143 c.2074G>C c.(2074-2076)GGT>CGT p.G692R ZBTB41_uc009wyz.1_RNA NM_194314 NP_919290 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 692 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 TAAATTTTACCTGAATGCGTT 0.264 NA 5 4 0 0 0.047766 0 0 CAMK1G 57172 broad.mit.edu 37 1 209782371 209782371 + Missense_Mutation SNP T T C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:209782371T>C uc001hhd.2 + 8 784 c.682T>C c.(682-684)TTC>CTC p.F228L CAMK1G_uc001hhf.3_Missense_Mutation_p.F228L|CAMK1G_uc001hhe.2_Missense_Mutation_p.F228L NM_020439 NP_065172 Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 228 Protein kinase. Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0475) GTCTAAGCTTTTCGAGAAGAT 0.493 Ovarian(163;530 1939 9680 28669 48710) NA 71 112 0 0 0.048971 0 0 PGBD5 79605 broad.mit.edu 37 1 230472975 230472975 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:230472975C>A uc010pwb.1 - 4 747 c.747G>T c.(745-747)AAG>AAT p.K249N PGBD5_uc001htv.2_Missense_Mutation_p.K348N NM_024554 NP_078830 Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 249 integral to membrane ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) GGAGCTGGGGCTTATTCTTCA 0.567 NA 21 35 2.39187e-15 3.18483e-15 0.049695 1 0 HEATR1 55127 broad.mit.edu 37 1 236719125 236719125 + Missense_Mutation SNP A A C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:236719125A>C uc001hyd.1 - 39 5754 c.5629T>G c.(5629-5631)TTC>GTC p.F1877V HEATR1_uc009xgh.1_Missense_Mutation_p.F1039V NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 1877 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TGGGCTCGGAAGTCCAGGGCT 0.493 NA 13 137 0 0 0.105934 0 0 OR2M2 391194 broad.mit.edu 37 1 248343812 248343812 + Silent SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:248343812C>A uc010pzf.1 + 1 525 c.525C>A c.(523-525)GCC>GCA p.A175A NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 175 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGGAAATAGCCCACTTCTTCT 0.423 NA 199 321 9.29173e-92 1.48789e-91 0.048971 1 0 OR2M7 391196 broad.mit.edu 37 1 248487522 248487523 + Missense_Mutation DNP CA CA AG rs140426612 TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:248487522_248487523CA>AG uc010pzk.1 - 1 348_349 c.348_349TG>CT c.(346-351)GCTGTT>GCCTTT p.V117F NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 117 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TAAGACATAACAGCCAACAGAA 0.441 NA 158 254 0 0 0.004672 0 0 SFMBT2 57713 broad.mit.edu 37 10 7325988 7325988 + Missense_Mutation SNP C C T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr10:7325988C>T uc009xio.1 - 6 741 c.650G>A c.(649-651)CGC>CAC p.R217H SFMBT2_uc001ijn.1_Missense_Mutation_p.R217H|SFMBT2_uc010qay.1_Missense_Mutation_p.R217H NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 217 MBT 2. regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 ATAGCGAAGGCGTAATCTTCC 0.418 NA 51 65 0 0 0.048971 0 0 ITIH5 80760 broad.mit.edu 37 10 7608297 7608297 + Silent SNP C C T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr10:7608297C>T uc001ijq.2 - 13 2302 c.2223G>A c.(2221-2223)TTG>TTA p.L741L ITIH5_uc001ijp.2_Silent_p.L527L NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 741 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 TGATAGTGCGCAAGTAAGTGC 0.527 NA 15 13 0 0 0.0333 0 0 ITIH5 80760 broad.mit.edu 37 10 7611748 7611748 + Splice_Site SNP C C T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr10:7611748C>T uc001ijq.2 - 12 2112 c.2033_splice c.e12-1 p.V678_splice ITIH5_uc001ijp.2_Splice_Site_p.V464_splice NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 TCACCATCCACTGCCAGAGCA 0.363 NA 5 21 0 0 0.014758 0 0 OPTN 10133 broad.mit.edu 37 10 13154608 13154608 + Silent SNP A A G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr10:13154608A>G uc001ilu.1 + 6 963 c.525A>G c.(523-525)GAA>GAG p.E175E OPTN_uc001ilv.1_Silent_p.E175E|OPTN_uc001ilw.1_Silent_p.E175E|OPTN_uc001ilx.1_Silent_p.E175E|OPTN_uc001ily.1_Silent_p.E175E|OPTN_uc010qbr.1_Silent_p.E118E|OPTN_uc001ilz.1_Silent_p.E175E NM_001008213 NP_001008214 Q96CV9 OPTN_HUMAN optineurin 175 Interaction with Rab8. cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction perinuclear region of cytoplasm|trans-Golgi network protein C-terminus binding ovary(2) 2 GCTCCTCAGAAGATTCCTTTG 0.463 NA 52 81 0 0 0.048971 0 0 CHST3 9469 broad.mit.edu 37 10 73767038 73767038 + Silent SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr10:73767038C>A uc001jsn.2 + 3 689 c.249C>A c.(247-249)CTC>CTA p.L83L NM_004273 NP_004264 Q7LGC8 CHST3_HUMAN chondroitin 6-sulfotransferase 3 83 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity 0 TGAGCGAGCTCGATTCAGCCT 0.597 NA 22 10 3.8784e-16 5.22093e-16 0.062417 1 0 PDZD8 118987 broad.mit.edu 37 10 119078424 119078424 + Missense_Mutation SNP T T G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr10:119078424T>G uc001lde.1 - 3 1256 c.1057A>C c.(1057-1059)AGT>CGT p.S353R NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 353 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) CAAACACTACTGCTTAACTCA 0.338 NA 14 53 0 0 0.028581 0 0 OR51D1 390038 broad.mit.edu 37 11 4661574 4661574 + Missense_Mutation SNP A A G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr11:4661574A>G uc010qyk.1 + 1 554 c.554A>G c.(553-555)CAT>CGT p.H185R NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 185 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCCAAACACATACTGTCACA 0.478 NA 71 52 0 0 0.048971 0 0 TRIM22 10346 broad.mit.edu 37 11 5719619 5719619 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr11:5719619G>T uc001mbr.2 + 4 871 c.594G>T c.(592-594)GAG>GAT p.E198D TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Missense_Mutation_p.E166D|TRIM22_uc009yes.2_Missense_Mutation_p.E194D|TRIM22_uc010qzm.1_Missense_Mutation_p.E26D|TRIM22_uc009yeu.2_Missense_Mutation_p.E9D NM_006074 NP_006065 Q8IYM9 TRI22_HUMAN tripartite motif-containing 22 198 Potential. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding 0 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) ACAATGAGGAGCAGAGAGAGC 0.483 GBM(104;491 2336 5222) NA 29 30 1.39806e-14 1.82193e-14 0.037714 1 0 OR52N2 390077 broad.mit.edu 37 11 5842468 5842468 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr11:5842468G>T uc010qzp.1 + 1 903 c.903G>T c.(901-903)CAG>CAT p.Q301H TRIM5_uc001mbq.1_Intron NM_001005174 NP_001005174 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, 301 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGACCAAGCAGATTCAGGAAG 0.383 NA 57 38 1.78197e-24 2.55311e-24 0.048971 1 0 MAPK8IP1 9479 broad.mit.edu 37 11 45925566 45925566 + Missense_Mutation SNP T T G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr11:45925566T>G uc001nbr.2 + 7 1690 c.1520T>G c.(1519-1521)CTT>CGT p.L507R NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting 507 SH3. vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity ovary(2)|breast(1)|skin(1) 4 GBM - Glioblastoma multiforme(35;0.231) GAAGACGAACTTGAGCTGGAA 0.587 NA 10 139 0 0 0.080935 0 0 SPRYD5 84767 broad.mit.edu 37 11 55655631 55655631 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr11:55655631C>A uc010rip.1 + 4 723 c.631C>A c.(631-633)CAA>AAA p.Q211K SPRYD5_uc010riq.1_Missense_Mutation_p.Q68K NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 211 intracellular zinc ion binding 0 all_epithelial(135;0.226) CATTTTTCAGCAACTCAATGA 0.443 NA 5 88 2.27111e-07 2.61231e-07 0.09319 1 0 SPRYD5 84767 broad.mit.edu 37 11 55658922 55658922 + Silent SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr11:55658922C>A uc010rip.1 + 7 1265 c.1173C>A c.(1171-1173)CTC>CTA p.L391L SPRYD5_uc010riq.1_Silent_p.L248L NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 391 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) ACTGCAGTCTCTTTACCACCT 0.443 NA 32 68 3.38236e-24 4.81789e-24 0.092188 1 0 OR8H1 219469 broad.mit.edu 37 11 56058409 56058410 + Missense_Mutation DNP CC CC GA TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr11:56058409_56058410CC>GA uc010rje.1 - 1 129_130 c.129_130GG>TC c.(127-132)GTGGGG>GTTCGG p.G44R NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 44 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 Esophageal squamous(21;0.00448) AATATCATCCCCACATTGCCCA 0.426 NA 96 213 0 0 0.004672 0 0 MS4A3 932 broad.mit.edu 37 11 59834462 59834462 + Silent SNP A A T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr11:59834462A>T uc001nom.2 + 5 518 c.390A>T c.(388-390)ACA>ACT p.T130T MS4A3_uc001non.2_Silent_p.T84T|MS4A3_uc001noo.2_Silent_p.T7T NM_006138 NP_006129 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 130 Helical; (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity ovary(2)|skin(1) 3 all_epithelial(135;0.245) CCAGTGCTACAATTGCACTAG 0.373 NA 20 17 0 0 0.069288 0 0 PGR 5241 broad.mit.edu 37 11 100922259 100922259 + Silent SNP A A T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr11:100922259A>T uc001pgh.2 - 5 2996 c.2253T>A c.(2251-2253)ATT>ATA p.I751I PGR_uc001pgg.2_Silent_p.I132I|PGR_uc001pgi.2_Silent_p.I649I|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 751 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) AAGAATACTGAATGAGAGTTA 0.343 Pancreas(124;2271 2354 21954 22882) NA 28 68 0 0 0.108266 0 0 TRPC6 7225 broad.mit.edu 37 11 101454093 101454093 + Missense_Mutation SNP G G C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr11:101454093G>C uc001pgk.3 - 1 567 c.142C>G c.(142-144)CTG>GTG p.L48V TRPC6_uc009ywy.2_Missense_Mutation_p.L48V|TRPC6_uc009ywz.1_Missense_Mutation_p.L48V NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 48 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TAGCAAGGCAGCGGGGCTTGC 0.721 Colon(166;1315 1927 11094 12848 34731) NA 6 9 0 0 0.047766 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110035866 110035866 + Silent SNP A A C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr11:110035866A>C uc009yxw.2 + 6 2107 c.2056A>C c.(2056-2058)AGA>CGA p.R686R ZC3H12C_uc010rwc.1_Silent_p.R687R|ZC3H12C_uc010rwd.1_Silent_p.R687R|ZC3H12C_uc001pkr.3_Silent_p.R655R NM_033390 NP_203748 Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 686 endonuclease activity|nucleic acid binding|zinc ion binding 0 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) CCCCTTAACCAGAGGGCAAAG 0.562 NA 64 258 0 0 0.048971 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117789384 117789384 + Missense_Mutation SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr11:117789384G>A uc001prs.1 - 2 284 c.191C>T c.(190-192)ACA>ATA p.T64I TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Missense_Mutation_p.T64I NM_001077263 NP_001070731 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 64 4 X 5 AA repeats of T-P-P-G-R.|2-4.|12 X 5 AA repeats of A-S-P-A-[GLQR].|Cytoplasmic (Potential).|Ala-rich. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity pancreas(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) GCCTGGAGGTGTACCAGCTGG 0.687 NA 26 46 0 0 0.034045 0 0 OR8D2 283160 broad.mit.edu 37 11 124189725 124189725 + Silent SNP A A G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr11:124189725A>G uc010sah.1 - 1 369 c.369T>C c.(367-369)TAT>TAC p.Y123Y NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 123 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) AGATAGCAACATAACGGTCAT 0.418 NA 23 52 0 0 0.069288 0 0 KIRREL3 84623 broad.mit.edu 37 11 126306850 126306850 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr11:126306850C>A uc001qea.2 - 12 1769 c.1408G>T c.(1408-1410)GTG>TTG p.V470L KIRREL3_uc001qeb.2_Missense_Mutation_p.V470L|KIRREL3_uc001qec.1_Missense_Mutation_p.V470L|ST3GAL4_uc001qdx.1_Intron NM_032531 NP_115920 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 isoform 1 470 Extracellular (Potential).|Ig-like C2-type 5. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding ovary(3) 3 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) ATGGTCTCCACCGTATAGCGC 0.642 NA 7 13 2.7689e-08 3.21507e-08 0.02938 1 0 KIRREL3 84623 broad.mit.edu 37 11 126318921 126318921 + Missense_Mutation SNP C C T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr11:126318921C>T uc001qea.2 - 8 1341 c.980G>A c.(979-981)CGC>CAC p.R327H KIRREL3_uc001qeb.2_Missense_Mutation_p.R327H|KIRREL3_uc001qec.1_Missense_Mutation_p.R327H NM_032531 NP_115920 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 isoform 1 327 Extracellular (Potential).|Ig-like C2-type 3. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding ovary(3) 3 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) GTCAACCGTGCGGCTGAGGTT 0.587 NA 13 48 0 0 0.09319 0 0 ANO2 57101 broad.mit.edu 37 12 5685081 5685081 + Missense_Mutation SNP A A T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr12:5685081A>T uc001qnm.2 - 24 2612 c.2540T>A c.(2539-2541)CTC>CAC p.L847H NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 852 Extracellular (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 GAAAAAGGAGAGGGTGTGGTT 0.517 NA 14 8 0 0 0.024245 0 0 ST8SIA1 6489 broad.mit.edu 37 12 22487150 22487150 + Missense_Mutation SNP C C T rs146610334 TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr12:22487150C>T uc001rfo.3 - 1 499 c.17G>A c.(16-18)CGG>CAG p.R6Q ST8SIA1_uc009zix.2_5'UTR|uc001rfp.1_Intron NM_003034 NP_003025 Q92185 SIA8A_HUMAN alpha-2,8-sialyltransferase 1 6 Cytoplasmic (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(3) 3 TCGCCGGGCCCGCCCGCAGGG 0.731 NA 21 22 0 0 0.055883 0 0 TSPAN11 441631 broad.mit.edu 37 12 31144811 31144811 + Silent SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr12:31144811C>A uc010sju.1 + 8 1103 c.723C>A c.(721-723)ACC>ACA p.T241T TSPAN11_uc001rjp.2_Silent_p.T241T|TSPAN11_uc010sjv.1_Silent_p.T231T NM_001080509 NP_001073978 A1L157 TSN11_HUMAN tetraspanin 11 241 integral to membrane 0 all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) TGGTTCTCACCTGCTGCTTGC 0.577 NA 26 26 9.80776e-20 1.36528e-19 0.030593 1 0 PTGES3 10728 broad.mit.edu 37 12 57058275 57058275 + Silent SNP T T A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr12:57058275T>A uc001slu.3 - 8 766 c.471A>T c.(469-471)CCA>CCT p.P157P PTGES3_uc001slw.3_RNA|PTGES3_uc010sqs.1_Silent_p.P124P|PTGES3_uc001slv.3_Silent_p.P127P|PTGES3_uc010sqt.1_Silent_p.P136P|PTGES3_uc009zox.2_RNA NM_006601 NP_006592 Q15185 TEBP_HUMAN prostaglandin-E synthase 3 157 Asp/Glu-rich. chaperone cofactor-dependent protein refolding|hormone biosynthetic process|prostaglandin biosynthetic process|signal transduction|telomere maintenance cytosol|telomerase holoenzyme complex prostaglandin-E synthase activity|telomerase activity|unfolded protein binding 0 ACTCCAGATCTGGCATTTCTG 0.299 NA 29 27 0 0 0.045705 0 0 IFT88 8100 broad.mit.edu 37 13 21199956 21199956 + Missense_Mutation SNP G G C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr13:21199956G>C uc001unh.2 + 17 1690 c.1294G>C c.(1294-1296)GTT>CTT p.V432L IFT88_uc001uni.2_Missense_Mutation_p.V423L|IFT88_uc001unj.2_Missense_Mutation_p.V422L|IFT88_uc010tcq.1_Missense_Mutation_p.V403L|IFT88_uc001unk.2_Missense_Mutation_p.V178L|IFT88_uc001unl.1_Missense_Mutation_p.V50L NM_175605 NP_783195 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog isoform 1 432 TPR 5. cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) AAACAAAGCAGTTACATACTT 0.318 NA 24 10 0 0 0.0918 0 0 NBEA 26960 broad.mit.edu 37 13 35751179 35751179 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr13:35751179C>A uc001uvb.2 + 28 4807 c.4601C>A c.(4600-4602)CCG>CAG p.P1534Q NBEA_uc010abi.2_Missense_Mutation_p.P222Q NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 1534 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ATTAAGGATCCGGATAGACTT 0.348 NA 11 4 1.61879e-10 1.93465e-10 0.09319 1 0 LIG4 3981 broad.mit.edu 37 13 108863171 108863171 + Missense_Mutation SNP T T A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr13:108863171T>A uc001vqn.2 - 2 719 c.446A>T c.(445-447)AAC>ATC p.N149I LIG4_uc001vqo.2_Missense_Mutation_p.N149I|LIG4_uc010agg.1_Missense_Mutation_p.N82I|LIG4_uc010agf.2_Missense_Mutation_p.N149I|LIG4_uc001vqp.2_Missense_Mutation_p.N149I NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 149 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) TAAAAGGTCGTTTACTTGCTG 0.368 NA NHEJ 108 47 0 0 0.048971 0 0 OR11H6 122748 broad.mit.edu 37 14 20691969 20691969 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr14:20691969G>T uc010tlc.1 + 1 101 c.101G>T c.(100-102)GGT>GTT p.G34V NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, 34 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) GTCCTCCTGGGTTTCCATGGT 0.423 NA 75 54 6.6428e-20 9.29992e-20 0.048971 1 0 OR4E2 26686 broad.mit.edu 37 14 22133543 22133543 + Nonsense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr14:22133543G>T uc010tmd.1 + 1 247 c.247G>T c.(247-249)GAG>TAG p.E83* NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, 83 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TAAGATGTTGGAGGGTTTGCT 0.438 NA 143 119 4.23873e-62 6.74344e-62 0.048971 1 0 Unknown 0 broad.mit.edu 37 14 28733879 28733879 + Missense_Mutation SNP T T G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr14:28733879T>G uc001wqd.2 + 1 260 c.120T>G c.(118-120)AAT>AAG p.N40K SubName: Full=cDNA FLJ60537, highly similar to BCL2/adenovirus E1B 19 kDa protein-interacting protein 3; NA CTATTTATAATGGTGACATGG 0.527 NA 40 26 0 0 0.11126 0 0 DDHD1 80821 broad.mit.edu 37 14 53619470 53619470 + Missense_Mutation SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr14:53619470G>A uc001xai.2 - 1 577 c.347C>T c.(346-348)TCG>TTG p.S116L DDHD1_uc001xaj.2_Missense_Mutation_p.S116L|DDHD1_uc001xah.2_Missense_Mutation_p.S116L NM_001160148 NP_001153620 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 isoform c 116 lipid catabolic process cytoplasm hydrolase activity|metal ion binding ovary(2) 2 Breast(41;0.037) CGGGTGCAGCGACAAGGAGCT 0.701 NA 9 2 0 0 0.047766 0 0 SAMD4A 23034 broad.mit.edu 37 14 55227114 55227114 + Missense_Mutation SNP T T C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr14:55227114T>C uc001xbb.2 + 6 1410 c.1409T>C c.(1408-1410)CTC>CCC p.L470P SAMD4A_uc001xbc.2_Missense_Mutation_p.L382P|SAMD4A_uc001xbg.2_Missense_Mutation_p.L62P NM_015589 NP_056404 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4 isoform 471 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity 0 AGCGGGGGGCTCCAGCCGCAC 0.736 NA 2 1 0 0 0.004672 0 0 TSHR 7253 broad.mit.edu 37 14 81609890 81609890 + Silent SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr14:81609890G>A uc001xvd.1 + 10 1644 c.1488G>A c.(1486-1488)ACG>ACA p.T496T NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 496 Helical; Name=3; (Potential). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1) 299 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) GGTGCAACACGGCTGGTTTCT 0.562 NA Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 25 12 0 0 0.076483 0 0 SERPINA9 327657 broad.mit.edu 37 14 94935754 94935754 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr14:94935754G>T uc001ydf.2 - 2 639 c.478C>A c.(478-480)CTG>ATG p.L160M SERPINA9_uc001yde.2_Intron|SERPINA9_uc010avc.2_Missense_Mutation_p.L11M|SERPINA9_uc001ydg.2_Missense_Mutation_p.L124M|SERPINA9_uc001ydh.1_Missense_Mutation_p.L160M|SERPINA9_uc001ydi.1_Missense_Mutation_p.L124M NM_175739 NP_783866 Q86WD7 SPA9_HUMAN serine (or cysteine) proteinase inhibitor, clade 142 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity lung(1)|central_nervous_system(1) 2 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) TGCAGCTGCAGCTCCTTCTTG 0.522 NA 70 56 6.52717e-41 1.0251e-40 0.048971 1 0 SERPINA13 388007 broad.mit.edu 37 14 95108087 95108087 + Missense_Mutation SNP C C G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr14:95108087C>G uc001ydt.2 + 2 692 c.604C>G c.(604-606)CTG>GTG p.L202V NR_015340 RecName: Full=Serpin A13; Flags: Precursor; lung(1)|skin(1) 2 GTTCAGCGGCCTGGGCGCGAG 0.627 NA 58 34 0 0 0.048971 0 0 ATG2B 55102 broad.mit.edu 37 14 96792136 96792136 + Missense_Mutation SNP A A G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr14:96792136A>G uc001yfi.2 - 15 2652 c.2287T>C c.(2287-2289)TCT>CCT p.S763P NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 763 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TCTTGATCAGATCGAAGATCA 0.393 NA 45 36 0 0 0.045515 0 0 GABRG3 2567 broad.mit.edu 37 15 27777965 27777965 + Missense_Mutation SNP T T C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr15:27777965T>C uc001zbg.1 + 10 1508 c.1342T>C c.(1342-1344)TTT>CTT p.F448L NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 448 Helical; (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) CTCCCGGGTCTTTTTCCCCAC 0.473 NSCLC(114;800 1656 7410 37729 45293) NA 3 35 0 0 0.009096 0 0 DPP8 54878 broad.mit.edu 37 15 65782569 65782569 + Missense_Mutation SNP C C G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr15:65782569C>G uc002aov.2 - 6 2410 c.832G>C c.(832-834)GAT>CAT p.D278H DPP8_uc002aow.2_Missense_Mutation_p.D278H|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.D262H|DPP8_uc002aoy.2_Missense_Mutation_p.D278H|DPP8_uc002aoz.2_Missense_Mutation_p.D262H|DPP8_uc010bhj.2_Missense_Mutation_p.D278H|DPP8_uc002apa.2_Missense_Mutation_p.D175H|DPP8_uc010bhk.1_Missense_Mutation_p.D20H NM_130434 NP_569118 Q6V1X1 DPP8_HUMAN dipeptidyl peptidase 8 isoform 1 278 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity ovary(1) 1 GAATATCTATCAAATTCTTCT 0.363 NA 37 30 0 0 0.09836 0 0 KIAA1024 23251 broad.mit.edu 37 15 79749274 79749274 + Missense_Mutation SNP A A C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr15:79749274A>C uc002bew.1 + 2 860 c.785A>C c.(784-786)GAG>GCG p.E262A KIAA1024_uc010unk.1_Missense_Mutation_p.E262A NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 262 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 ATCTTCAAAGAGGATTTTCAC 0.498 NA 14 74 0 0 0.020292 0 0 SSTR5 6755 broad.mit.edu 37 16 1129350 1129350 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr16:1129350C>A uc002ckq.2 + 1 570 c.482C>A c.(481-483)GCC>GAC p.A161D LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank NM_001053 NP_001044 P35346 SSR5_HUMAN somatostatin receptor 5 161 Helical; Name=4; (Potential). negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity lung(1) 1 Hepatocellular(780;0.00369) Octreotide(DB00104) CTGGCGAGCGCCGCGGCCTGG 0.711 NA 4 14 0.000602214 0.000641489 0.014758 1 0 PKD1 5310 broad.mit.edu 37 16 2161139 2161139 + Silent SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr16:2161139C>A uc002cos.1 - 15 4238 c.4029G>T c.(4027-4029)CCG>CCT p.P1343P PKD1_uc002cot.1_Silent_p.P1343P NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 1343 PKD 8.|Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 GTGTCACCGTCGGGCACCCCC 0.672 NA 13 22 4.3838e-07 5.01884e-07 0.105934 1 0 MYH11 4629 broad.mit.edu 37 16 15815294 15815294 + Silent SNP A A G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr16:15815294A>G uc002ddy.2 - 32 4670 c.4563T>C c.(4561-4563)GAT>GAC p.D1521D MYH11_uc002ddv.2_Silent_p.D1528D|MYH11_uc002ddw.2_Silent_p.D1521D|MYH11_uc002ddx.2_Silent_p.D1528D|MYH11_uc010bvg.2_Silent_p.D1353D|NDE1_uc010uzy.1_Intron|NDE1_uc002dds.2_Intron|MYH11_uc010bvh.2_Silent_p.D227D|NDE1_uc002ddz.1_5'Flank NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 1521 Potential. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 TGCCCACGTCATCCTTGGAGC 0.557 NA T CBFB AML 30 60 0 0 0.054565 0 0 LONP2 83752 broad.mit.edu 37 16 48295479 48295479 + Missense_Mutation SNP T T C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr16:48295479T>C uc002efi.1 + 5 957 c.868T>C c.(868-870)TGT>CGT p.C290R LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.C246R NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 290 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 CCATAAAGTCTGTGTCAAAGA 0.338 NA 52 25 0 0 0.048971 0 0 NFAT5 10725 broad.mit.edu 37 16 69726354 69726354 + Missense_Mutation SNP G G C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr16:69726354G>C uc002exm.1 + 12 3780 c.2572G>C c.(2572-2574)GAT>CAT p.D858H NFAT5_uc002exi.2_Missense_Mutation_p.D782H|NFAT5_uc002exj.1_Missense_Mutation_p.D782H|NFAT5_uc002exk.1_Missense_Mutation_p.D782H|NFAT5_uc002exl.1_Missense_Mutation_p.D876H|NFAT5_uc002exn.1_Missense_Mutation_p.D875H|NFAT5_uc002exo.1_5'Flank NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 858 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 TACCAGACCAGATAATTTATT 0.348 NA 63 46 0 0 0.048971 0 0 JPH3 57338 broad.mit.edu 37 16 87678279 87678279 + Silent SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr16:87678279G>T uc002fkd.2 + 2 1052 c.798G>T c.(796-798)CTG>CTT p.L266L JPH3_uc010vou.1_RNA NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN junctophilin 3 266 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0287) CCATCAGCCTGGGCGAGGCTG 0.662 NA 5 65 0.00116845 0.00123926 0.021553 1 0 TP53 7157 broad.mit.edu 37 17 7578275 7578275 + Nonsense_Mutation SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr17:7578275G>A uc002gim.2 - 6 768 c.574C>T c.(574-576)CAG>TAG p.Q192* TP53_uc002gig.1_Nonsense_Mutation_p.Q192*|TP53_uc002gih.2_Nonsense_Mutation_p.Q192*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q60*|TP53_uc010cng.1_Nonsense_Mutation_p.Q60*|TP53_uc002gii.1_Nonsense_Mutation_p.Q60*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q192*|TP53_uc010cni.1_Nonsense_Mutation_p.Q192*|TP53_uc002gij.2_Nonsense_Mutation_p.Q192*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.Q99*|TP53_uc002gio.2_Nonsense_Mutation_p.Q60*|TP53_uc010vug.1_Nonsense_Mutation_p.Q153* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 192 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q192*(64)|p.0?(7)|p.Q192R(5)|p.A189_V197delAPPQHLIRV(4)|p.Q192H(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.Q192Q(2)|p.P191del(2)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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) ATAAGATGCTGAGGAGGGGCC 0.557 Pancreas(47;798 1329 9957 10801) 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-Fraumensyndrome|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) 22 23 0 0 0.069288 0 0 MYH2 4620 broad.mit.edu 37 17 10443940 10443940 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr17:10443940C>A uc010coi.2 - 11 1107 c.979G>T c.(979-981)GAT>TAT p.D327Y uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.D327Y|MYH2_uc010coj.2_Missense_Mutation_p.D327Y NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 327 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TCCTGATCATCGATGCTGGCC 0.403 NA 29 16 1.39806e-14 1.82193e-14 0.037714 1 0 SLFN11 91607 broad.mit.edu 37 17 33679953 33679953 + Missense_Mutation SNP A A C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr17:33679953A>C uc010ctp.2 - 7 2570 c.2128T>G c.(2128-2130)TTG>GTG p.L710V SLFN11_uc010ctq.2_Missense_Mutation_p.L710V|SLFN11_uc002hjh.3_Missense_Mutation_p.L710V|SLFN11_uc002hjg.3_Missense_Mutation_p.L710V|SLFN11_uc010ctr.2_Missense_Mutation_p.L710V NM_001104588 NP_001098058 Q7Z7L1 SLN11_HUMAN schlafen family member 11 710 nucleus ATP binding large_intestine(1)|ovary(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGCAATCCAAGTGGCTGGTC 0.483 NA 25 134 0 0 0.083992 0 0 KCNH6 81033 broad.mit.edu 37 17 61611300 61611300 + Silent SNP C C T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr17:61611300C>T uc002jay.2 + 5 809 c.729C>T c.(727-729)CGC>CGT p.R243R KCNH6_uc002jax.1_Silent_p.R243R|KCNH6_uc010wpl.1_Silent_p.R120R|KCNH6_uc010wpm.1_Silent_p.R243R|KCNH6_uc002jaz.1_Silent_p.R243R NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 243 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) AGGCGCCGCGCATCCACCGCT 0.672 NA 61 47 0 0 0.048971 0 0 MYOM1 8736 broad.mit.edu 37 18 3067414 3067414 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr18:3067414C>A uc002klp.2 - 38 5238 c.4904G>T c.(4903-4905)GGC>GTC p.G1635V MYOM1_uc002klq.2_Missense_Mutation_p.G1539V NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 1635 Ig-like C2-type 5. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 GGTGCTCACGCCGTTGATGGT 0.592 NA 3 54 0.00909568 0.00952325 0.009096 1 0 LAMA1 284217 broad.mit.edu 37 18 7002306 7002306 + Missense_Mutation SNP T T A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr18:7002306T>A uc002knm.2 - 30 4433 c.4339A>T c.(4339-4341)AGT>TGT p.S1447C LAMA1_uc010wzj.1_Missense_Mutation_p.S923C NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1447 Laminin EGF-like 15. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCACAGTCACTTGCTGAGCCA 0.577 NA 12 68 0 0 0.09319 0 0 LAMA3 3909 broad.mit.edu 37 18 21481106 21481106 + Missense_Mutation SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr18:21481106G>A uc002kuq.2 + 48 6106 c.6020G>A c.(6019-6021)AGG>AAG p.R2007K LAMA3_uc002kur.2_Missense_Mutation_p.R1951K|LAMA3_uc002kus.3_Missense_Mutation_p.R398K|LAMA3_uc002kut.3_Missense_Mutation_p.R342K NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 2007 Domain II and I.|Potential. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AACCGGATAAGGACCTGGCAG 0.438 NA 11 29 0 0 0.020292 0 0 C18orf34 374864 broad.mit.edu 37 18 30554619 30554619 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr18:30554619G>T uc002kxn.2 - 21 2557 c.2415C>A c.(2413-2415)CAC>CAA p.H805Q C18orf34_uc010xbq.1_RNA|C18orf34_uc010dme.1_Missense_Mutation_p.H269Q|C18orf34_uc010xbr.1_Missense_Mutation_p.H829Q|C18orf34_uc010dmf.1_Missense_Mutation_p.H125Q|C18orf34_uc002kxo.2_Missense_Mutation_p.H767Q|C18orf34_uc002kxp.2_Missense_Mutation_p.H805Q NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 805 ovary(1) 1 GCCACAGTGTGTGCATCCTTC 0.483 NA 13 13 0.000219431 0.000238936 0.020292 1 0 MYO5B 4645 broad.mit.edu 37 18 47462712 47462712 + Missense_Mutation SNP G G C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr18:47462712G>C uc002leb.2 - 16 2201 c.1913C>G c.(1912-1914)ACC>AGC p.T638S MYO5B_uc002lec.1_Missense_Mutation_p.T637S NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 638 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) ATGCAGGGAGGTACGGAACTA 0.473 NA 2 14 0 0 0.004672 0 0 ALPK2 115701 broad.mit.edu 37 18 56202748 56202748 + Silent SNP C C T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr18:56202748C>T uc002lhj.3 - 5 4885 c.4671G>A c.(4669-4671)ACG>ACA p.T1557T ALPK2_uc002lhk.1_Silent_p.T888T NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1557 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 TGGAGTTGTGCGTGTCAACCC 0.448 NA 52 32 0 0 0.048971 0 0 NETO1 81832 broad.mit.edu 37 18 70423324 70423324 + Missense_Mutation SNP C C G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr18:70423324C>G uc002lkw.2 - 8 1211 c.927G>C c.(925-927)TTG>TTC p.L309F NETO1_uc002lkx.1_Missense_Mutation_p.L308F|NETO1_uc002lky.1_Missense_Mutation_p.L309F NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 309 LDL-receptor class A.|Extracellular (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) CATTGCAGACCAAAGTATTAT 0.368 NA 27 36 0 0 0.037714 0 0 STK11 6794 broad.mit.edu 37 19 1221211 1221211 + Splice_Site SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr19:1221211G>T uc002lrl.1 + 6 1850 c.735_splice c.e6-1 p.L245_splice NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(3) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) TCGAAATGAAGCTACAACATC 0.587 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 9 10 6.42651e-13 8.15801e-13 0.080935 1 0 MUC16 94025 broad.mit.edu 37 19 9085453 9085453 + Missense_Mutation SNP A A C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr19:9085453A>C uc002mkp.2 - 1 6566 c.6362T>G c.(6361-6363)TTG>TGG p.L2121W NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2121 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ATCAGTGTTCAAAGTACTCGC 0.483 NA 76 51 0 0 0.048971 0 0 HAUS8 93323 broad.mit.edu 37 19 17170437 17170437 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr19:17170437G>T uc002nfe.2 - 6 461 c.350C>A c.(349-351)CCA>CAA p.P117Q HAUS8_uc002nff.2_Missense_Mutation_p.P116Q|HAUS8_uc002nfg.1_Missense_Mutation_p.P56Q|HAUS8_uc002nfh.1_Missense_Mutation_p.P117Q NM_033417 NP_219485 Q9BT25 HAUS8_HUMAN sarcoma antigen NY-SAR-48 isoform a 117 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole 0 TGCTAACTGTGGCGTCTTTTT 0.388 NA 21 25 2.4624e-09 2.90042e-09 0.049695 1 0 LRFN3 79414 broad.mit.edu 37 19 36430384 36430384 + Silent SNP A A C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr19:36430384A>C uc002oco.2 + 2 509 c.57A>C c.(55-57)CCA>CCC p.P19P NM_024509 NP_078785 Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III 19 Extracellular (Potential).|LRRNT. cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane 0 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CCTCATCCCCACCCCAGTCAG 0.711 NA 4 51 0 0 0.047766 0 0 FCGBP 8857 broad.mit.edu 37 19 40367841 40367841 + Silent SNP T T G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr19:40367841T>G uc002omp.3 - 29 13127 c.13119A>C c.(13117-13119)GCA>GCC p.A4373A NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4373 TIL 10. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCGTAAGGGGTGCAGGGGACG 0.627 NA 10 15 0 0 0.043863 0 0 C19orf54 284325 broad.mit.edu 37 19 41248552 41248552 + Missense_Mutation SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr19:41248552G>A uc002oou.1 - 6 962 c.842C>T c.(841-843)TCC>TTC p.S281F C19orf54_uc002oow.1_Missense_Mutation_p.S109F|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_RNA NM_198476 NP_940878 Q5BKX5 CS054_HUMAN hypothetical protein LOC284325 281 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) AGCTCCCGGGGAGCCCTCCTC 0.652 NA 12 9 0 0 0.080935 0 0 PSG3 5671 broad.mit.edu 37 19 43233396 43233396 + Silent SNP T T G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr19:43233396T>G uc002oue.2 - 5 1254 c.1122A>C c.(1120-1122)CTA>CTC p.L374L PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Silent_p.L374L|PSG3_uc010eil.2_Silent_p.L396L NM_021016 NP_066296 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 374 Ig-like C2-type 3. Missing (in Ref. 9). defense response|female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) TTTGTCCTGATAGCTGAAACT 0.453 NA 154 127 0 0 0.048971 0 0 PSG3 5671 broad.mit.edu 37 19 43244532 43244532 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr19:43244532C>A uc002oue.2 - 1 137 c.5G>T c.(4-6)GGG>GTG p.G2V PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.G24V NM_021016 NP_066296 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 2 defense response|female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) TGAGAGGGGCCCCATGGTCTC 0.607 NA 73 61 1.31311e-47 2.07556e-47 0.048971 1 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr19:58385546G>T uc002qqo.2 - 3 1484 c.1212C>A c.(1210-1212)GAC>GAA p.D404E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 AATGTTTTTTGTCAGTGTGAA 0.393 NA 4 7 0.00024832 0.000268011 0.009096 1 0 FAM49A 81553 broad.mit.edu 37 2 16736390 16736390 + Missense_Mutation SNP T T G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:16736390T>G uc010exm.1 - 10 1003 c.855A>C c.(853-855)AAA>AAC p.K285N FAM49A_uc002rck.1_Missense_Mutation_p.K285N NM_030797 NP_110424 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 285 intracellular 0 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) CCTTCAAAACTTTTATGCAGC 0.458 NA 5 24 0 0 0.02938 0 0 KIF3C 3797 broad.mit.edu 37 2 26204592 26204592 + Silent SNP A A G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:26204592A>G uc002rgu.2 - 1 852 c.195T>C c.(193-195)GAT>GAC p.D65D KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Silent_p.D65D NM_002254 NP_002245 O14782 KIF3C_HUMAN kinesin family member 3C 65 Kinesin-motor. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(3)|skin(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGAGCTGGCATCATACACGG 0.622 NA 52 93 0 0 0.048971 0 0 HNRPLL 92906 broad.mit.edu 37 2 38809125 38809125 + Silent SNP T T A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:38809125T>A uc002rqw.2 - 6 1142 c.732A>T c.(730-732)CCA>CCT p.P244P HNRPLL_uc002rqv.2_5'UTR|HNRPLL_uc002rqx.2_Silent_p.P239P NM_138394 NP_612403 Q8WVV9 HNRLL_HUMAN heterogeneous nuclear ribonucleoprotein L-like 244 RRM 2. mRNA processing|positive regulation of RNA splicing nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding skin(1) 1 all_hematologic(82;0.248) TTAGACGAGTTGGCTGTTAAG 0.328 NA 16 37 0 0 0.0333 0 0 C2orf73 129852 broad.mit.edu 37 2 54571011 54571011 + Splice_Site SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:54571011G>T uc002rxt.1 + 3 430 c.388_splice c.e3+1 p.V130_splice C2orf73_uc010yor.1_Splice_Site_p.V72_splice|C2orf73_uc002rxs.1_Splice_Site_p.V9_splice|C2orf73_uc010yos.1_Splice_Site NM_001100396 NP_001093866 Q8N5S3 CB073_HUMAN hypothetical protein LOC129852 0 TGTGGAATAGGTAAGGTTTTG 0.398 NA 7 15 0.00307968 0.00325225 0.038147 1 0 CCDC88A 55704 broad.mit.edu 37 2 55523591 55523591 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:55523591G>T uc002ryv.2 - 30 5733 c.4891C>A c.(4891-4893)CAT>AAT p.H1631N CCDC88A_uc010yoz.1_Missense_Mutation_p.H1604N|CCDC88A_uc010ypa.1_Missense_Mutation_p.H1631N|CCDC88A_uc002ryt.2_5'UTR|CCDC88A_uc010fbw.2_Missense_Mutation_p.H133N|CCDC88A_uc002ryu.2_Missense_Mutation_p.H886N|CCDC88A_uc002rys.2_Missense_Mutation_p.H589N|CCDC88A_uc002ryw.2_Missense_Mutation_p.H915N|CCDC88A_uc010fby.1_Missense_Mutation_p.H483N NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 1632 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 CAAGCCTCATGGTCATGAAGC 0.468 NA 31 44 1.7881e-09 2.11635e-09 0.037714 1 0 DYSF 8291 broad.mit.edu 37 2 71894573 71894573 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:71894573G>T uc002sie.2 + 47 5644 c.5268G>T c.(5266-5268)CAG>CAT p.Q1756H DYSF_uc010feg.2_Missense_Mutation_p.Q1787H|DYSF_uc010feh.2_Missense_Mutation_p.Q1763H|DYSF_uc002sig.3_Missense_Mutation_p.Q1742H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.Q1777H|DYSF_uc010fef.2_Missense_Mutation_p.Q1794H|DYSF_uc010fei.2_Missense_Mutation_p.Q1773H|DYSF_uc010fek.2_Missense_Mutation_p.Q1774H|DYSF_uc010fej.2_Missense_Mutation_p.Q1764H|DYSF_uc010fel.2_Missense_Mutation_p.Q1743H|DYSF_uc010feo.2_Missense_Mutation_p.Q1788H|DYSF_uc010fem.2_Missense_Mutation_p.Q1778H|DYSF_uc010fen.2_Missense_Mutation_p.Q1795H|DYSF_uc002sif.2_Missense_Mutation_p.Q1757H|DYSF_uc010yqy.1_Missense_Mutation_p.Q637H|DYSF_uc010yqz.1_Missense_Mutation_p.Q517H NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1756 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 ATGTGCTTCAGCAGCAGGGCC 0.627 NA 46 57 3.05275e-18 4.15513e-18 0.045515 1 0 ITPRIPL1 150771 broad.mit.edu 37 2 96993360 96993360 + Missense_Mutation SNP G G C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:96993360G>C uc002svx.2 + 3 1326 c.991G>C c.(991-993)GCC>CCC p.A331P ITPRIPL1_uc010yuk.1_Missense_Mutation_p.A323P|ITPRIPL1_uc002svy.2_Missense_Mutation_p.A339P|ITPRIPL1_uc010yul.1_Missense_Mutation_p.A323P NM_001008949 NP_001008949 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-triphosphate receptor interacting 331 Cytoplasmic (Potential). integral to membrane central_nervous_system(2)|ovary(1) 3 CAATGCCTGGGCCCTTGTGGC 0.557 NA 31 53 0 0 0.037714 0 0 AFF3 3899 broad.mit.edu 37 2 100623170 100623170 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:100623170C>A uc002tag.2 - 6 1033 c.797G>T c.(796-798)GGA>GTA p.G266V AFF3_uc002taf.2_Missense_Mutation_p.G291V|AFF3_uc010fiq.1_Missense_Mutation_p.G266V|AFF3_uc010yvr.1_Missense_Mutation_p.G420V|AFF3_uc002tah.1_Missense_Mutation_p.G291V|AFF3_uc010fir.1_Missense_Mutation_p.G343V|AFF3_uc002tai.2_Missense_Mutation_p.G188V NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 266 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 GGCAGGGACTCCCCTGTATGA 0.582 NA 28 31 3.65163e-15 4.83594e-15 0.030593 1 0 IL18RAP 8807 broad.mit.edu 37 2 103061734 103061734 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:103061734G>T uc002tbx.2 + 9 1490 c.1006G>T c.(1006-1008)GTT>TTT p.V336F IL18RAP_uc010fiz.2_Missense_Mutation_p.V194F NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 336 Ig-like C2-type 2.|Extracellular (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 CAGGAAGTTTGTTTGCTTTGT 0.428 NA 23 45 1.36565e-18 1.86918e-18 0.076483 1 0 PAX8 7849 broad.mit.edu 37 2 114002029 114002029 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:114002029C>A uc010yxt.1 - 4 530 c.364G>T c.(364-366)GTG>TTG p.V122L PAX8_uc010yxu.1_Missense_Mutation_p.V122L|PAX8_uc010yxv.1_Missense_Mutation_p.V122L|PAX8_uc002tjm.2_Missense_Mutation_p.V122L|PAX8_uc002tjn.2_Missense_Mutation_p.V122L|PAX8_uc010fku.1_Missense_Mutation_p.V122L|LOC654433_uc002tjq.3_Intron|LOC654433_uc010fks.2_Intron|LOC654433_uc010fkt.2_Intron|LOC654433_uc002tjr.3_Intron NM_003466 NP_003457 Q06710 PAX8_HUMAN paired box 8 isoform PAX8A 122 Paired. branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity ovary(1)|lung(1) 2 ACACTGGGCACAGTGTCATTG 0.552 Ovarian(188;7 2067 9084 29802 29892) NA T PPARG follicular thyroid Thyroid dysgenesis 53 196 2.81731e-22 3.98983e-22 0.048971 1 0 GLI2 2736 broad.mit.edu 37 2 121726411 121726411 + Silent SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:121726411G>T uc010flp.2 + 5 795 c.765G>T c.(763-765)TCG>TCT p.S255S GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.A126S|GLI2_uc010flo.1_Silent_p.S130S|GLI2_uc002tmw.1_Silent_p.S255S NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 255 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) CACCCAACTCGCTAGTGGCCT 0.672 NA 25 57 5.35356e-11 6.46119e-11 0.076483 1 0 MYO7B 4648 broad.mit.edu 37 2 128324229 128324229 + Silent SNP C C T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:128324229C>T uc002top.2 + 5 350 c.297C>T c.(295-297)GGC>GGT p.G99G NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 99 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CATACACAGGCTCCATCCTGG 0.652 NA 4 15 0 0 0.014758 0 0 POTEF 728378 broad.mit.edu 37 2 130877719 130877719 + Missense_Mutation SNP C C T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:130877719C>T uc010fmh.2 - 3 770 c.370G>A c.(370-372)GAT>AAT p.D124N NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 124 cell cortex ATP binding skin(3)|ovary(2) 5 GCACTGTCATCGTAGTCTCCC 0.577 NA 82 110 0 0 0.048971 0 0 CFC1B 653275 broad.mit.edu 37 2 131356257 131356257 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:131356257C>A uc002tro.1 - 3 596 c.205G>T c.(205-207)GGG>TGG p.G69W NM_001079530 NP_001072998 P0CG36 CFC1B_HUMAN cripto, FRL-1, cryptic family 1B 69 gastrulation extracellular region 0 Colorectal(110;0.1) TCCTCCGGCCCCCAGCCCTCG 0.627 NA 16 89 2.21704e-12 2.75723e-12 0.076483 1 0 FAM123C 205147 broad.mit.edu 37 2 131520357 131520357 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:131520357G>T uc002trw.2 + 2 902 c.712G>T c.(712-714)GTG>TTG p.V238L FAM123C_uc010fmv.2_Missense_Mutation_p.V238L|FAM123C_uc010fms.1_Missense_Mutation_p.V238L|FAM123C_uc010fmt.1_Missense_Mutation_p.V238L|FAM123C_uc010fmu.1_Missense_Mutation_p.V238L NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 238 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GTGTGAGGACGTGGCCTCACT 0.657 NA 41 52 2.58029e-29 3.92652e-29 0.11126 1 0 XIRP2 129446 broad.mit.edu 37 2 168105645 168105645 + Silent SNP A A G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:168105645A>G uc002udx.2 + 8 7761 c.7743A>G c.(7741-7743)ACA>ACG p.T2581T XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.T2406T|XIRP2_uc010fpq.2_Silent_p.T2359T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2406 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AACACATAACAGAGGTGGAAA 0.368 NA 44 81 0 0 0.039052 0 0 HOXD12 3238 broad.mit.edu 37 2 176964707 176964708 + Missense_Mutation DNP CC CC AA TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:176964707_176964708CC>AA uc010zev.1 + 1 178_179 c.178_179CC>AA c.(178-180)CCC>AAC p.P60N HOXD12_uc010zew.1_Missense_Mutation_p.P60N NM_021193 NP_067016 P35452 HXD12_HUMAN homeobox D12 60 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) CTCCTGCGCCCCCGCGCAGCCT 0.748 NA 10 18 0 0 0.004672 0 0 FAM171B 165215 broad.mit.edu 37 2 187627205 187627205 + Missense_Mutation SNP T T A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:187627205T>A uc002ups.2 + 8 2248 c.2136T>A c.(2134-2136)AAT>AAA p.N712K FAM171B_uc002upr.1_Missense_Mutation_p.N679K|FAM171B_uc002upt.2_Missense_Mutation_p.N181K NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 712 Cytoplasmic (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 TGGACATGAATGAGCTTCACT 0.458 NA 22 60 0 0 0.062417 0 0 STAT4 6775 broad.mit.edu 37 2 191934452 191934452 + Missense_Mutation SNP A A T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:191934452A>T uc002usm.1 - 6 765 c.511T>A c.(511-513)TTT>ATT p.F171I STAT4_uc002usn.1_Missense_Mutation_p.F171I|STAT4_uc010zgk.1_Missense_Mutation_p.F16I|STAT4_uc002uso.2_Missense_Mutation_p.F171I NM_003151 NP_003142 Q14765 STAT4_HUMAN signal transducer and activator of transcription 171 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) CTGTAGTCAAATTCGTCTTGC 0.328 NA 28 110 0 0 0.041601 0 0 DNAH7 56171 broad.mit.edu 37 2 196750928 196750928 + Silent SNP A A G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:196750928A>G uc002utj.3 - 34 5576 c.5475T>C c.(5473-5475)GAT>GAC p.D1825D NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1825 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CAGCAAAATCATCCATAAAAC 0.373 NA 20 66 0 0 0.055883 0 0 GTF3C3 9330 broad.mit.edu 37 2 197657796 197657796 + Missense_Mutation SNP C C T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:197657796C>T uc002uts.2 - 3 385 c.295G>A c.(295-297)GAA>AAA p.E99K GTF3C3_uc010zgu.1_Missense_Mutation_p.E99K|GTF3C3_uc002utu.2_Missense_Mutation_p.E99K NM_012086 NP_036218 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 99 Glu-rich. transcription factor TFIIIC complex DNA binding|protein binding ovary(3)|breast(3)|pancreas(1) 7 tcttcctcttcctcctcATCA 0.343 NA 22 30 0 0 0.055883 0 0 SATB2 23314 broad.mit.edu 37 2 200137136 200137136 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:200137136C>A uc002uuy.1 - 11 2817 c.2000G>T c.(1999-2001)CGG>CTG p.R667L SATB2_uc010fsq.1_Missense_Mutation_p.R549L|SATB2_uc002uuz.1_Missense_Mutation_p.R667L|SATB2_uc002uva.1_Missense_Mutation_p.R667L NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 667 Homeobox. cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 CACGTGGTACCGCTGGTTCTG 0.567 Colon(30;262 767 11040 24421 36230) NA 27 88 1.38854e-25 2.03708e-25 0.037714 1 0 ALS2CR8 79800 broad.mit.edu 37 2 203846375 203846375 + Silent SNP C C T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:203846375C>T uc002uzo.2 + 14 1936 c.1656C>T c.(1654-1656)TCC>TCT p.S552S ALS2CR8_uc010zia.1_Silent_p.S476S|ALS2CR8_uc010zib.1_Silent_p.S476S|ALS2CR8_uc010zic.1_Silent_p.S464S|ALS2CR8_uc002uzp.2_Silent_p.S552S NM_001104586 NP_001098056 Q8N187 AL2S8_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 552 large_intestine(1)|ovary(1) 2 CCTCACTCTCCTCATTTCAGC 0.413 NA 36 76 0 0 0.080422 0 0 TNP1 7141 broad.mit.edu 37 2 217724654 217724654 + Missense_Mutation SNP T T A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:217724654T>A uc002vgk.2 - 1 129 c.104A>T c.(103-105)AAG>ATG p.K35M NM_003284 NP_003275 P09430 STP1_HUMAN transition protein 1 (during histone to 35 chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation nucleosome DNA binding 0 Renal(207;0.0822) Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAGGTTGCCCTTACGGTATTT 0.532 NA 39 111 0 0 0.104719 0 0 ATG9A 79065 broad.mit.edu 37 2 220087499 220087499 + Silent SNP C C T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr2:220087499C>T uc002vke.1 - 11 1902 c.1716G>A c.(1714-1716)GAG>GAA p.E572E ABCB6_uc010fwe.1_5'Flank|ABCB6_uc010zku.1_5'Flank|ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Silent_p.E572E NM_001077198 NP_001070666 Q7Z3C6 ATG9A_HUMAN APG9 autophagy 9-like 1 572 Cytoplasmic (By similarity). autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane skin(1) 1 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGGCTGTGCTCTCACGTGGTG 0.572 NA 37 90 0 0 0.074837 0 0 JPH2 57158 broad.mit.edu 37 20 42788302 42788302 + Silent SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr20:42788302G>T uc002xli.1 - 2 1998 c.1125C>A c.(1123-1125)CGC>CGA p.R375R NM_020433 NP_065166 Q9BR39 JPH2_HUMAN junctophilin 2 isoform 1 375 Ala-rich.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane 0 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TAGCAGCGGCGCGCTGGGCAC 0.667 NA 13 31 1.5739e-10 1.89022e-10 0.028581 1 0 MMP9 4318 broad.mit.edu 37 20 44640804 44640804 + Silent SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr20:44640804G>T uc002xqz.2 + 7 1045 c.1026G>T c.(1024-1026)TCG>TCT p.S342S NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 342 Fibronectin type-II 3. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) GGGGCAACTCGGCGGGGGAGC 0.632 NA 49 100 3.50607e-19 4.85303e-19 0.048971 1 0 PREX1 57580 broad.mit.edu 37 20 47265961 47265961 + Missense_Mutation SNP T T A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr20:47265961T>A uc002xtw.1 - 25 3205 c.3182A>T c.(3181-3183)GAC>GTC p.D1061V PREX1_uc002xtv.1_Missense_Mutation_p.D358V NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 1061 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GAGGCCCCGGTCTTCCTGACC 0.612 NA 27 60 0 0 0.041601 0 0 KRTAP19-5 337972 broad.mit.edu 37 21 31874246 31874246 + Missense_Mutation SNP A A G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr21:31874246A>G uc011ada.1 - 1 163 c.163T>C c.(163-165)TAC>CAC p.Y55H NM_181611 NP_853642 Q3LI72 KR195_HUMAN keratin associated protein 19-5 55 intermediate filament protein binding 0 CAGCTGCGGTATCCATAGCCT 0.532 NA 59 164 0 0 0.048971 0 0 GCFC1 94104 broad.mit.edu 37 21 34132126 34132126 + Silent SNP G G A rs144407550 TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr21:34132126G>A uc002yqn.2 - 6 1345 c.1155C>T c.(1153-1155)CCC>CCT p.P385P GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Silent_p.P385P|GCFC1_uc002yqr.2_Silent_p.P385P NM_016631 NP_057715 Q9Y5B6 GCFC1_HUMAN GC-rich sequence DNA-binding factor candidate 385 cytosol|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 CAATAGTAACGGGAGTCATCT 0.408 NA 85 144 0 0 0.048971 0 0 KCNE1 3753 broad.mit.edu 37 21 35821633 35821633 + Silent SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr21:35821633C>A uc010gmp.2 - 2 730 c.300G>T c.(298-300)CTG>CTT p.L100L KCNE1_uc002ytz.2_Silent_p.L100L|KCNE1_uc010gmq.2_Silent_p.L100L|KCNE1_uc010gmr.2_Silent_p.L100L|KCNE1_uc010gms.2_Silent_p.L100L|KCNE1_uc002yua.2_RNA NM_001127670 NP_001121142 P15382 KCNE1_HUMAN potassium voltage-gated channel, Isk-related 100 Cytoplasmic (Potential). blood circulation|membrane depolarization|muscle contraction|sensory perception of sound lysosome delayed rectifier potassium channel activity|potassium channel regulator activity ovary(2) 2 Indapamide(DB00808) TGTAGCTCTCCAGGACCCGGG 0.557 NA 63 120 1.53716e-24 2.21531e-24 0.048971 1 0 ADARB1 104 broad.mit.edu 37 21 46596226 46596226 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr21:46596226G>T uc002zgy.2 + 4 1045 c.610G>T c.(610-612)GGG>TGG p.G204W ADARB1_uc002zgr.2_Missense_Mutation_p.G204W|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.G204W|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.G204W|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA|ADARB1_uc011afo.1_Missense_Mutation_p.G253W NM_015833 NP_056648 P78563 RED1_HUMAN RNA-specific adenosine deaminase B1 isoform 2 204 adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding skin(1) 1 Colorectal(79;0.115) CAGTTCCAGCGGGGACCTCAG 0.592 NA 18 40 5.3912e-06 6.05892e-06 0.038395 1 0 COL6A2 1292 broad.mit.edu 37 21 47535957 47535957 + Missense_Mutation SNP C C G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr21:47535957C>G uc002zia.1 + 7 972 c.890C>G c.(889-891)CCA>CGA p.P297R COL6A2_uc002zhy.1_Missense_Mutation_p.P297R|COL6A2_uc002zhz.1_Missense_Mutation_p.P297R|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 297 Triple-helical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ATTGGATTCCCAGGACCCAAG 0.711 NA 4 6 0 0 0.009096 0 0 EFCAB6 64800 broad.mit.edu 37 22 43930600 43930600 + Missense_Mutation SNP G G C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr22:43930600G>C uc003bdy.1 - 30 4416 c.4201C>G c.(4201-4203)CAC>GAC p.H1401D EFCAB6_uc003bdz.1_Missense_Mutation_p.H1249D|EFCAB6_uc010gzi.1_Missense_Mutation_p.H1249D NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 1401 Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) TTCATCCTGTGCATCAGTGAG 0.423 NA 12 21 0 0 0.105934 0 0 LRPAP1 4043 broad.mit.edu 37 4 3521828 3521828 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr4:3521828C>A uc003ghi.2 - 3 527 c.442G>T c.(442-444)GAC>TAC p.D148Y NM_002337 NP_002328 P30533 AMRP_HUMAN low density lipoprotein receptor-related protein 148 negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport cell surface|integral to membrane|plasma membrane asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.165) AGCCTGGGGTCATCCAGCCCG 0.552 NA 17 67 5.35267e-07 6.09955e-07 0.043863 1 0 SLIT2 9353 broad.mit.edu 37 4 20570575 20570575 + Silent SNP A A T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr4:20570575A>T uc003gpr.1 + 29 3240 c.3036A>T c.(3034-3036)ACA>ACT p.T1012T SLIT2_uc003gps.1_Silent_p.T1004T NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 1012 EGF-like 3; calcium-binding (Potential). 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 ATAATTCTACATGTGTCGATG 0.363 NA 40 56 0 0 0.074837 0 0 CCKAR 886 broad.mit.edu 37 4 26483656 26483656 + Silent SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr4:26483656C>A uc003gse.1 - 5 1044 c.891G>T c.(889-891)CGG>CGT p.R297R NM_000730 NP_000721 P32238 CCKAR_HUMAN cholecystokinin A receptor 297 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity lung(3)|pancreas(1) 4 Breast(46;0.0503) Ceruletide(DB00403) AGCTGTTACTCCGGATGCGGT 0.602 NA 56 101 5.22555e-25 7.6206e-25 0.048971 1 0 FRYL 285527 broad.mit.edu 37 4 48555252 48555252 + Missense_Mutation SNP T T C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr4:48555252T>C uc003gyh.1 - 36 5020 c.4415A>G c.(4414-4416)AAA>AGA p.K1472R FRYL_uc003gyk.2_Missense_Mutation_p.K1472R|FRYL_uc003gyg.1_Missense_Mutation_p.K168R|FRYL_uc003gyi.1_Missense_Mutation_p.K361R NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 1472 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 AGAAGGGATTTTATAGCTGGA 0.338 NA 24 54 0 0 0.099896 0 0 NDST4 64579 broad.mit.edu 37 4 115760697 115760697 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr4:115760697C>A uc003ibu.2 - 11 2802 c.2123G>T c.(2122-2124)CGA>CTA p.R708L NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 708 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TTCATGTGATCGTTGGTGCTT 0.279 NA 31 20 9.65021e-13 1.21246e-12 0.045705 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5191905 5191905 + Splice_Site SNP T T G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr5:5191905T>G uc003jdl.2 + 8 1451 c.1313_splice c.e8+2 p.N438_splice ADAMTS16_uc003jdk.1_Splice_Site_p.N438_splice|ADAMTS16_uc003jdj.1_Splice_Site_p.N438_splice NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 TGGACACAAGTAAGTGCATCT 0.443 NA 47 75 0 0 0.048971 0 0 PAPD7 11044 broad.mit.edu 37 5 6753049 6753049 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr5:6753049G>T uc003jdx.1 + 12 1462 c.1333G>T c.(1333-1335)GTA>TTA p.V445L PAPD7_uc011cmn.1_Missense_Mutation_p.V436L|PAPD7_uc010itl.1_Missense_Mutation_p.V265L NM_006999 NP_008930 Q5XG87 PAPD7_HUMAN DNA polymerase sigma 445 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding ovary(1) 1 ACAAGCTGGTGTAGAAGGAAC 0.542 NSCLC(7;212 333 5667 23379 46547) NA 50 94 5.82388e-19 8.01602e-19 0.048971 1 0 CDH10 1008 broad.mit.edu 37 5 24511448 24511448 + Missense_Mutation SNP G G C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr5:24511448G>C uc003jgr.1 - 6 1322 c.990C>G c.(988-990)ATC>ATG p.I330M CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 330 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) TTTTCACAGTGATGATGCCTT 0.413 NA HNSCC(23;0.051) 58 152 0 0 0.048971 0 0 DAB2 1601 broad.mit.edu 37 5 39377150 39377150 + Missense_Mutation SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr5:39377150G>A uc003jlx.2 - 12 2270 c.1739C>T c.(1738-1740)GCA>GTA p.A580V DAB2_uc003jlw.2_Missense_Mutation_p.A559V NM_001343 NP_001334 P98082 DAB2_HUMAN disabled homolog 2 580 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding kidney(2)|skin(1) 3 all_lung(31;0.000197) Epithelial(62;0.137) AGCATTGGGTGCCACAGATGC 0.547 NA OREG0016586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 57 80 0 0 0.048971 0 0 DAB2 1601 broad.mit.edu 37 5 39383033 39383033 + Missense_Mutation SNP A A G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr5:39383033A>G uc003jlx.2 - 10 1559 c.1028T>C c.(1027-1029)TTT>TCT p.F343S DAB2_uc003jlw.2_Missense_Mutation_p.F322S NM_001343 NP_001334 P98082 DAB2_HUMAN disabled homolog 2 343 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding kidney(2)|skin(1) 3 all_lung(31;0.000197) Epithelial(62;0.137) TTGCTGACCAAAGTAGTCAAC 0.493 NA 6 115 0 0 0.021553 0 0 HCN1 348980 broad.mit.edu 37 5 45303793 45303793 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr5:45303793C>A uc003jok.2 - 6 1551 c.1526G>T c.(1525-1527)GGT>GTT p.G509V NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 509 cAMP.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 CATTTTTTTACCCACGGCTCC 0.398 NA 42 83 3.54909e-21 4.99728e-21 0.042209 1 0 EDIL3 10085 broad.mit.edu 37 5 83259126 83259126 + Missense_Mutation SNP T T G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr5:83259126T>G uc003kio.1 - 10 1610 c.1191A>C c.(1189-1191)AAA>AAC p.K397N EDIL3_uc003kip.1_Missense_Mutation_p.K387N NM_005711 NP_005702 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like 397 F5/8 type C 2. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding skin(2) 2 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) GACCAAAATCTTTAGCTCCTT 0.383 NA 13 44 0 0 0.09319 0 0 CAMK4 814 broad.mit.edu 37 5 110819995 110819995 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr5:110819995C>A uc011cvj.1 + 12 1352 c.1253C>A c.(1252-1254)CCC>CAC p.P418H CAMK4_uc003kpf.2_Missense_Mutation_p.P418H|CAMK4_uc010jbv.2_Missense_Mutation_p.P221H|CAMK4_uc003kpg.2_Missense_Mutation_p.P109H NM_001744 NP_001735 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 418 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(3)|lung(2) 5 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) AAAATGGTGCCCAAGGCAGTG 0.547 NA 29 15 9.65021e-13 1.21246e-12 0.045705 1 0 PCDHB7 56129 broad.mit.edu 37 5 140552500 140552500 + Silent SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr5:140552500C>A uc003lit.2 + 1 258 c.84C>A c.(82-84)GCC>GCA p.A28A NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 28 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGCTGGCGCCGAACCGCTTC 0.517 NA 45 31 7.77092e-38 1.20498e-37 0.048971 1 0 PCDHB11 56125 broad.mit.edu 37 5 140579566 140579566 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr5:140579566G>T uc003liy.2 + 1 219 c.219G>T c.(217-219)CAG>CAT p.Q73H PCDHB11_uc011daj.1_Intron NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 73 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) ATAAGAAACAGCGTTTGCAGC 0.527 NA 69 35 1.65906e-26 2.46345e-26 0.048971 1 0 PANK3 79646 broad.mit.edu 37 5 167995679 167995679 + Missense_Mutation SNP G G C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr5:167995679G>C uc003lzz.1 - 2 653 c.353C>G c.(352-354)GCT>GGT p.A118G NM_024594 NP_078870 Q9H999 PANK3_HUMAN pantothenate kinase 3 118 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) AAACTTGTAAGCACCACCTCC 0.383 NA 58 50 0 0 0.048971 0 0 RANBP17 64901 broad.mit.edu 37 5 170667972 170667972 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr5:170667972G>T uc003mba.2 + 23 2479 c.2463G>T c.(2461-2463)CAG>CAT p.Q821H RANBP17_uc003mbb.2_Missense_Mutation_p.Q146H|RANBP17_uc003mbd.2_Missense_Mutation_p.Q184H|RANBP17_uc010jjs.2_RNA NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 821 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAAAAGATCAGATTTATCCAA 0.413 NA T TRD@ ALL 79 65 3.00167e-28 4.53957e-28 0.048971 1 0 STC2 8614 broad.mit.edu 37 5 172755169 172755169 + Missense_Mutation SNP T T C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr5:172755169T>C uc003mco.1 - 1 1338 c.28A>G c.(28-30)ATG>GTG p.M10V STC2_uc003mcn.1_5'Flank NM_003714 NP_003705 O76061 STC2_HUMAN stanniocalcin 2 precursor 10 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity skin(2)|ovary(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GCCAGGGTCATGAACTGGCCC 0.557 NA 54 37 0 0 0.048971 0 0 SLC34A1 6569 broad.mit.edu 37 5 176825246 176825246 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr5:176825246C>A uc003mgk.3 + 13 1980 c.1879C>A c.(1879-1881)CGT>AGT p.R627S NM_003052 NP_003043 Q06495 NPT2A_HUMAN solute carrier family 34 (sodium phosphate), 627 Cytoplasmic (Potential). phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACCCTCCCCCCGTCTTGCACT 0.692 NA 23 6 2.70639e-06 3.06975e-06 0.069288 1 0 FAM50B 26240 broad.mit.edu 37 6 3850329 3850329 + Missense_Mutation SNP A A G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr6:3850329A>G uc003mvu.2 + 2 396 c.284A>G c.(283-285)GAG>GGG p.E95G NM_012135 NP_036267 Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 95 nucleus pancreas(1) 1 Ovarian(93;0.0925) all_hematologic(90;0.108) CAGCACCTGGAGGagcagcgg 0.512 NA 9 3 0 0 0.047766 0 0 HLA-J 3137 broad.mit.edu 37 6 29976906 29976906 + Silent SNP C C T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr6:29976906C>T uc003rtl.3 + 3 596 c.234C>T c.(232-234)GAC>GAT p.D78D HLA-G_uc011dmb.1_Intron|NCRNA00171_uc011dme.1_Intron|HLA-J_uc003nou.3_RNA|HLA-J_uc003nov.3_RNA Homo sapiens major histocompatibility complex, class I, J (pseudogene), mRNA (cDNA clone IMAGE:4694038). 0 TCTCACAGGACGTTTTCTTCC 0.507 NA 34 43 0 0 0.064281 0 0 ZNF451 26036 broad.mit.edu 37 6 56989619 56989619 + Missense_Mutation SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr6:56989619G>A uc003pdm.1 + 4 498 c.274G>A c.(274-276)GAG>AAG p.E92K ZNF451_uc003pdl.2_Missense_Mutation_p.E92K|ZNF451_uc003pdn.1_Missense_Mutation_p.E92K|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.E92K NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TGTTGAAGTGGAGAAACAGCA 0.303 NA 7 19 0 0 0.058154 0 0 ZNF451 26036 broad.mit.edu 37 6 56989634 56989634 + Nonsense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr6:56989634G>T uc003pdm.1 + 4 513 c.289G>T c.(289-291)GAA>TAA p.E97* ZNF451_uc003pdl.2_Nonsense_Mutation_p.E97*|ZNF451_uc003pdn.1_Nonsense_Mutation_p.E97*|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Nonsense_Mutation_p.E97* NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 97 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) ACAGCAGAAAGAAGAGAAGAA 0.303 NA 7 17 0.00448238 0.00471323 0.047766 1 0 ENPP1 5167 broad.mit.edu 37 6 132189226 132189226 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr6:132189226C>A uc011ecf.1 + 12 1253 c.1233C>A c.(1231-1233)AAC>AAA p.N411K ENPP1_uc003qcy.2_Missense_Mutation_p.N41K NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 411 Phosphodiesterase.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) AAGAGCTGAACTTGCACAGAT 0.408 Colon(104;336 1535 5856 11019 33782) NA 56 47 4.96213e-28 7.45842e-28 0.048971 1 0 RNF216 54476 broad.mit.edu 37 7 5751409 5751409 + Missense_Mutation SNP T T A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:5751409T>A uc003soy.1 - 13 2063 c.1873A>T c.(1873-1875)AAT>TAT p.N625Y RNF216_uc010ksz.1_Missense_Mutation_p.N247Y|RNF216_uc010kta.1_Missense_Mutation_p.N247Y|RNF216_uc011jwj.1_Missense_Mutation_p.N247Y|RNF216_uc003sox.1_Missense_Mutation_p.N682Y NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 625 IBR-type. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) CAGTGAGGATTAGGACAGCTG 0.453 NA 10 33 0 0 0.058154 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6080534 6080534 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:6080534C>A uc003spp.2 - 9 1254 c.1108G>T c.(1108-1110)GGT>TGT p.G370C EIF2AK1_uc003spq.2_Missense_Mutation_p.G369C|EIF2AK1_uc011jwm.1_Missense_Mutation_p.G246C|EIF2AK1_uc003spr.1_Missense_Mutation_p.G162C NM_014413 NP_055228 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha 370 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1) 4 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) TCTGTCTGACCCAAAAAGTTG 0.498 NA 32 100 2.08457e-15 2.79082e-15 0.045705 1 0 HOXA10 3206 broad.mit.edu 37 7 27213851 27213851 + Silent SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:27213851G>T uc011jzm.1 - 1 105 c.75C>A c.(73-75)GCC>GCA p.A25A HOXA10_uc003syw.3_Intron NM_018951 NP_061824 P31260 HXA10_HUMAN homeobox A10 isoform a 25 spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 AAGAGTTCGCGGCGGGGCTCT 0.418 NA 51 34 1.59911e-31 2.44864e-31 0.048971 1 0 ZNF679 168417 broad.mit.edu 37 7 63721249 63721249 + Silent SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:63721249G>A uc003tsx.2 + 4 473 c.204G>A c.(202-204)CTG>CTA p.L68L NM_153363 NP_699194 Q8IYX0 ZN679_HUMAN zinc finger protein 679 68 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TCACCTGTCTGGAGCAAAATA 0.378 NA 10 42 0 0 0.069234 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73944212 73944212 + Silent SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:73944212G>A uc003uaq.2 + 9 1632 c.1239G>A c.(1237-1239)CTG>CTA p.L413L GTF2IRD1_uc010lbq.2_Silent_p.L445L|GTF2IRD1_uc003uap.2_Silent_p.L413L|GTF2IRD1_uc003uar.1_Silent_p.L413L NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 413 GTF2I-like 2. nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 AGCGGATCCTGGAGGAGCGCC 0.428 NA 11 20 0 0 0.080935 0 0 ZNF804B 219578 broad.mit.edu 37 7 88964140 88964140 + Missense_Mutation SNP A A T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:88964140A>T uc011khi.1 + 4 2382 c.1844A>T c.(1843-1845)AAG>ATG p.K615M NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 615 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GGCTGCAGAAAGGCAGTTCTA 0.388 NA HNSCC(36;0.09) 16 59 0 0 0.038395 0 0 MUC17 140453 broad.mit.edu 37 7 100681471 100681471 + Silent SNP T T G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:100681471T>G uc003uxp.1 + 3 6827 c.6774T>G c.(6772-6774)ACT>ACG p.T2258T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2258 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|36. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CTGAAGCCACTTCATCTCCTA 0.502 NA 83 481 0 0 0.048971 0 0 MOGAT3 346606 broad.mit.edu 37 7 100839371 100839371 + Silent SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:100839371G>T uc003uyc.2 - 7 1049 c.882C>A c.(880-882)CCC>CCA p.P294P MOGAT3_uc010lhr.2_Missense_Mutation_p.H227N NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 294 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity ovary(2) 2 Lung NSC(181;0.168)|all_lung(186;0.215) GGACGGGGATGGGGCGGCCCA 0.682 NA 9 9 0.000274275 0.000294725 0.047766 1 0 DLD 1738 broad.mit.edu 37 7 107542810 107542810 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:107542810G>T uc003vet.2 + 4 349 c.239G>T c.(238-240)TGC>TTC p.C80F DLD_uc010ljm.1_RNA|DLD_uc011kmg.1_Missense_Mutation_p.C80F|DLD_uc011kmh.1_Intron|DLD_uc011kmi.1_Intron NM_000108 NP_000099 P09622 DLDH_HUMAN dihydrolipoamide dehydrogenase precursor 80 FAD. branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix dihydrolipoyl dehydrogenase activity central_nervous_system(1) 1 NADH(DB00157) GGTGGAACATGCTTGAATGTT 0.368 NA 20 71 1.96895e-08 2.29711e-08 0.076483 1 0 NRCAM 4897 broad.mit.edu 37 7 107808783 107808783 + Silent SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:107808783G>A uc003vfb.2 - 29 3723 c.3252C>T c.(3250-3252)ATC>ATT p.I1084I NRCAM_uc003vfc.2_Intron|NRCAM_uc011kmk.1_Intron|NRCAM_uc003vfd.2_Intron|NRCAM_uc003vfe.2_Intron|NRCAM_uc011kmj.1_Intron NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A 1084 Fibronectin type-III 5.|Extracellular (Potential). angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 ATTCCCAACTGATATTGGCAT 0.378 NA 23 33 0 0 0.076483 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117432175 117432175 + Missense_Mutation SNP G G C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:117432175G>C uc003vjf.2 - 4 1167 c.1075C>G c.(1075-1077)CAG>GAG p.Q359E NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 359 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TAGGAAGCCTGCCTGTCAATA 0.522 NA 25 89 0 0 0.083992 0 0 CPA4 51200 broad.mit.edu 37 7 129948207 129948207 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:129948207C>A uc003vpr.2 + 8 810 c.763C>A c.(763-765)CCA>ACA p.P255T CPA4_uc011kpd.1_Missense_Mutation_p.P222T|CPA4_uc011kpe.1_Missense_Mutation_p.P151T NM_016352 NP_057436 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 preproprotein 255 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) TGGTGCTGACCCAAATAGAAA 0.547 NA 26 38 4.59853e-10 5.46912e-10 0.108266 1 0 PLXNA4 91584 broad.mit.edu 37 7 131895838 131895838 + Missense_Mutation SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:131895838G>A uc003vra.3 - 10 2391 c.2162C>T c.(2161-2163)ACG>ATG p.T721M NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 721 Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 GGCCTTCAGCGTGATAGGCTT 0.652 NA 8 4 0 0 0.038147 0 0 TAS2R5 54429 broad.mit.edu 37 7 141490255 141490255 + Missense_Mutation SNP T T A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:141490255T>A uc003vwr.1 + 1 239 c.94T>A c.(94-96)TTT>ATT p.F32I NM_018980 NP_061853 Q9NYW4 TA2R5_HUMAN taste receptor T2R5 32 Cytoplasmic (Potential). chemosensory behavior|sensory perception of taste taste receptor activity 0 Melanoma(164;0.0171) GGTCTGGAGTTTTAGAGAATG 0.498 NA 39 42 0 0 0.074837 0 0 OR9A4 130075 broad.mit.edu 37 7 141619370 141619370 + Missense_Mutation SNP C C T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:141619370C>T uc003vwu.1 + 1 695 c.695C>T c.(694-696)TCT>TTT p.S232F NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.0171) CCGTCATCCTCTGGCCGGAGG 0.483 NA 23 123 0 0 0.062417 0 0 OR2A12 346525 broad.mit.edu 37 7 143792488 143792488 + Silent SNP C C T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:143792488C>T uc011kty.1 + 1 288 c.288C>T c.(286-288)TGC>TGT p.C96C NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 Melanoma(164;0.0783) TTGCTCCTTGCATACTTCAGA 0.443 NA 22 105 0 0 0.076483 0 0 OR2A14 135941 broad.mit.edu 37 7 143826991 143826991 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:143826991G>T uc011kua.1 + 1 786 c.786G>T c.(784-786)AAG>AAT p.K262N NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) TGGCCCCCAAGTCCCGCCATC 0.552 NA 7 206 8.12818e-05 8.93007e-05 0.02938 1 0 NOBOX 135935 broad.mit.edu 37 7 144098578 144098578 + Nonsense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:144098578G>T uc011kue.1 - 4 405 c.405C>A c.(403-405)TGC>TGA p.C135* NM_001080413 NP_001073882 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 135 cell differentiation|oogenesis nucleus sequence-specific DNA binding ovary(1) 1 Melanoma(164;0.14) CTGAGATGGTGCAGGAGGGTG 0.667 NA 27 38 3.73148e-12 4.57106e-12 0.034045 1 0 REPIN1 29803 broad.mit.edu 37 7 150069074 150069074 + Silent SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:150069074G>A uc010lpq.1 + 4 1233 c.744G>A c.(742-744)AAG>AAA p.K248K REPIN1_uc003whd.2_Silent_p.K237K|REPIN1_uc010lpr.1_Silent_p.K305K|REPIN1_uc003whc.2_Silent_p.K248K|REPIN1_uc003whe.2_Silent_p.K248K NM_013400 NP_037532 Q9BWE0 REPI1_HUMAN replication initiator 1 isoform 1 248 C2H2-type 6. DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding pancreas(1) 1 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) TCCGGCACAAGCCCAACTTGA 0.517 NA 27 32 0 0 0.041601 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417443 150417443 + Silent SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:150417443G>A uc003whq.2 + 3 438 c.351G>A c.(349-351)CTG>CTA p.L117L GIMAP1_uc003whp.2_Silent_p.L125L NM_130759 NP_570115 Q8WWP7 GIMA1_HUMAN GTPase, IMAP family member 1 117 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane GTP binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGCTGCTCCTGGTGACCCAGT 0.617 NA 24 31 0 0 0.076483 0 0 DPP6 1804 broad.mit.edu 37 7 154564630 154564630 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr7:154564630C>A uc003wlk.2 + 10 1243 c.1114C>A c.(1114-1116)CCG>ACG p.P372T DPP6_uc003wli.2_Missense_Mutation_p.P308T|DPP6_uc003wlm.2_Missense_Mutation_p.P310T|DPP6_uc011kvq.1_Missense_Mutation_p.P265T NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 372 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity p.E372Q(1) pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GGAGATGATGCCGCCTGATGA 0.438 NSCLC(125;1384 1783 2490 7422 34254) NA 7 27 0.000157383 0.000172138 0.038147 1 0 GFRA2 2675 broad.mit.edu 37 8 21608281 21608281 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr8:21608281G>T uc003wzu.1 - 4 1288 c.613C>A c.(613-615)CGC>AGC p.R205S GFRA2_uc003wzv.1_Missense_Mutation_p.R100S|GFRA2_uc003wzw.1_Missense_Mutation_p.R72S|DOK2_uc003wzx.1_Intron NM_001495 NP_001486 O00451 GFRA2_HUMAN GDNF family receptor alpha 2 isoform a 205 anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity 0 Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) AAGAACTGGCGCAGGGCCTTG 0.637 NA 52 72 1.57914e-17 2.13752e-17 0.048971 1 0 SNAI2 6591 broad.mit.edu 37 8 49832880 49832880 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr8:49832880G>T uc003xqp.2 - 2 364 c.200C>A c.(199-201)GCC>GAC p.A67D NM_003068 NP_003059 O43623 SNAI2_HUMAN snail 2 67 canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) GGGTAGCTGGGCGTGGAATGG 0.557 NA 55 123 9.52127e-25 1.3803e-24 0.048971 1 0 DNAJC5B 85479 broad.mit.edu 37 8 67012241 67012241 + Missense_Mutation SNP C C G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr8:67012241C>G uc003xvs.1 + 6 866 c.575C>G c.(574-576)TCT>TGT p.S192C DNAJC5B_uc003xvt.1_RNA NM_033105 NP_149096 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 192 protein folding membrane heat shock protein binding|unfolded protein binding 0 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) AAAGAAGGATCTCGAAGTTAT 0.428 NA 12 35 0 0 0.09319 0 0 DNAJC5B 85479 broad.mit.edu 37 8 67012245 67012245 + Silent SNP A A G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr8:67012245A>G uc003xvs.1 + 6 870 c.579A>G c.(577-579)CGA>CGG p.R193R DNAJC5B_uc003xvt.1_RNA NM_033105 NP_149096 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 193 protein folding membrane heat shock protein binding|unfolded protein binding 0 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) AAGGATCTCGAAGTTATTGCA 0.438 NA 11 36 0 0 0.080935 0 0 ZFHX4 79776 broad.mit.edu 37 8 77619930 77619930 + Missense_Mutation SNP T T A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr8:77619930T>A uc003yav.2 + 3 3049 c.2662T>A c.(2662-2664)TCT>ACT p.S888T ZFHX4_uc003yat.1_Missense_Mutation_p.S888T|ZFHX4_uc003yau.1_Missense_Mutation_p.S914T|ZFHX4_uc003yaw.1_Missense_Mutation_p.S888T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 888 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAAATTCACCTCTGACAGCCT 0.522 NA HNSCC(33;0.089) 15 33 0 0 0.038395 0 0 SLC26A7 115111 broad.mit.edu 37 8 92261960 92261960 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr8:92261960G>T uc003yex.2 + 3 359 c.81G>T c.(79-81)TGG>TGT p.W27C SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.W27C|SLC26A7_uc003yfa.2_Missense_Mutation_p.W27C NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 27 Cytoplasmic (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) TTATACAGTGGTGTAGAAGGC 0.428 NA 29 67 2.12542e-12 2.65677e-12 0.030593 1 0 CSMD3 114788 broad.mit.edu 37 8 113569034 113569034 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr8:113569034C>A uc003ynu.2 - 25 4351 c.4192G>T c.(4192-4194)GGG>TGG p.G1398W CSMD3_uc003yns.2_Missense_Mutation_p.G670W|CSMD3_uc003ynt.2_Missense_Mutation_p.G1358W|CSMD3_uc011lhx.1_Missense_Mutation_p.G1294W NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1398 Extracellular (Potential).|Sushi 7. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CTTCTCTCCCCTGTCATGCAC 0.438 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 29 58 2.14196e-07 2.47537e-07 0.034045 1 0 TRPS1 7227 broad.mit.edu 37 8 116599310 116599310 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr8:116599310C>A uc003ynz.2 - 4 3038 c.2579G>T c.(2578-2580)GGA>GTA p.G860V TRPS1_uc011lhy.1_Missense_Mutation_p.G864V|TRPS1_uc003yny.2_Missense_Mutation_p.G873V|TRPS1_uc010mcy.2_Missense_Mutation_p.G860V NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 860 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AGACTTCTCTCCGCCAGCTGG 0.567 NA Langer-Giedion_syndrome 39 67 4.00102e-26 5.90512e-26 0.086207 1 0 CYP11B2 1585 broad.mit.edu 37 8 143994294 143994294 + Missense_Mutation SNP G G C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr8:143994294G>C uc003yxk.1 - 7 1132 c.1129C>G c.(1129-1131)CCT>GCT p.P377A NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 377 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) AGACCCACAGGGTAGAGCCTG 0.602 NA Familial_Hyperaldosteronism_type_I 14 19 0 0 0.024245 0 0 TSTA3 7264 broad.mit.edu 37 8 144696379 144696379 + Silent SNP C C A rs144331064 by1000genomes TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr8:144696379C>A uc003yza.2 - 7 654 c.618G>T c.(616-618)ACG>ACT p.T206T TSTA3_uc003yzb.2_Silent_p.T206T NM_003313 NP_003304 Q13630 FCL_HUMAN tissue specific transplantation antigen P35B 206 'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity pancreas(1) 1 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) NADH(DB00157) TACCCCACACCGTCAGGGCCG 0.642 NA 23 65 6.32553e-13 8.07164e-13 0.099896 1 0 SCRT1 83482 broad.mit.edu 37 8 145557006 145557006 + Silent SNP C C T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr8:145557006C>T uc003zbw.1 - 2 1000 c.888G>A c.(886-888)CAG>CAA p.Q296Q NM_031309 NP_112599 Q9BWW7 SCRT1_HUMAN scratch 296 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) CCGAATGCGTCTGCATGTGCG 0.627 NA 9 16 0 0 0.058154 0 0 NFKBIL2 4796 broad.mit.edu 37 8 145659566 145659566 + Missense_Mutation SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr8:145659566G>A uc011llg.1 - 21 3197 c.3182C>T c.(3181-3183)CCC>CTC p.P1061L uc011llh.1_5'Flank NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 1061 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CCGCAGCAGGGGTGTAAGCTG 0.697 NA 8 12 0 0 0.058154 0 0 FRMPD1 22844 broad.mit.edu 37 9 37740869 37740869 + Missense_Mutation SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr9:37740869G>T uc004aag.1 + 15 2388 c.2344G>T c.(2344-2346)GGC>TGC p.G782C FRMPD1_uc004aah.1_Missense_Mutation_p.G782C|FRMPD1_uc011lqm.1_Missense_Mutation_p.G604C|FRMPD1_uc011lqn.1_Missense_Mutation_p.G651C NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 782 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) CACTCCCCCAGGCCCCCCGTC 0.632 NA 18 14 3.51602e-12 4.32876e-12 0.049695 1 0 KLF4 9314 broad.mit.edu 37 9 110248154 110248154 + Missense_Mutation SNP A A C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr9:110248154A>C uc004bdh.2 - 4 2014 c.1393T>G c.(1393-1395)TCA>GCA p.S465A KLF4_uc004bdf.1_Missense_Mutation_p.S390A|KLF4_uc004bdg.2_Missense_Mutation_p.S440A NM_004235 NP_004226 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 474 Interaction with target DNA (By similarity).|C2H2-type 2. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(2)|lung(1) 3 AGTTCATCTGAGCGGGCGAAT 0.498 NA 17 86 0 0 0.038395 0 0 ASTN2 23245 broad.mit.edu 37 9 119188208 119188208 + Silent SNP G G T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr9:119188208G>T uc004bjs.1 - 23 4043 c.3942C>A c.(3940-3942)CTC>CTA p.L1314L ASTN2_uc004bjr.1_Silent_p.L1310L|ASTN2_uc004bjt.1_Silent_p.L1263L|ASTN2_uc004bjp.1_Silent_p.L407L|ASTN2_uc004bjq.1_Silent_p.L366L|ASTN2_uc011lxr.1_Silent_p.L366L|ASTN2_uc011lxs.1_Silent_p.L366L|ASTN2_uc011lxt.1_Silent_p.L366L|ASTN2_uc004bjo.1_Silent_p.L95L NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 1314 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 TGGTGTCCTTGAGGATGCTAT 0.587 NA 17 37 3.52763e-06 3.98281e-06 0.0333 1 0 OR1N1 138883 broad.mit.edu 37 9 125288754 125288754 + Silent SNP A A T TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr9:125288754A>T uc004bmn.1 - 1 819 c.819T>A c.(817-819)GCT>GCA p.A273A NM_012363 NP_036495 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, 273 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1)|breast(1)|skin(1) 3 TGTACATTGCAGCTGCTGCAA 0.507 NA 24 59 0 0 0.069288 0 0 FAM129B 64855 broad.mit.edu 37 9 130285969 130285969 + Missense_Mutation SNP T T C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr9:130285969T>C uc004brh.2 - 5 780 c.578A>G c.(577-579)CAC>CGC p.H193R FAM129B_uc004bri.2_Missense_Mutation_p.H180R|FAM129B_uc004brj.3_Missense_Mutation_p.H193R NM_022833 NP_073744 Q96TA1 NIBL1_HUMAN hypothetical protein LOC64855 isoform 1 193 protein binding 0 ATTGTTGCAGTGCCGGATGCA 0.577 NA OREG0019507 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 44 0 0 0.069234 0 0 DOLK 22845 broad.mit.edu 37 9 131708329 131708329 + Silent SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr9:131708329G>A uc004bwr.2 - 1 1684 c.1254C>T c.(1252-1254)CCC>CCT p.P418P NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron NM_014908 NP_055723 Q9UPQ8 DOLK_HUMAN dolichol kinase 418 Helical; (Potential). dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to endoplasmic reticulum membrane|membrane fraction dolichol kinase activity 0 TCAGCCAGATGGGAAGAGACA 0.582 NA 17 62 0 0 0.0333 0 0 XG 7499 broad.mit.edu 37 X 2729460 2729460 + Missense_Mutation SNP C C G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chrX:2729460C>G uc011mhg.1 + 9 716 c.493C>G c.(493-495)CTA>GTA p.L165V XG_uc004cqp.2_Missense_Mutation_p.L180V NM_175569 NP_780778 P55808 XG_HUMAN XG glycoprotein isoform 1 precursor 165 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1) 1 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TTATTTCAAACTAAACAATAG 0.403 NA 7 5 0 0 0.038147 0 0 FAM47C 442444 broad.mit.edu 37 X 37027350 37027350 + Silent SNP T T C TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chrX:37027350T>C uc004ddl.1 + 1 881 c.867T>C c.(865-867)ACT>ACC p.T289T NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 289 ovary(3) 3 CTCCCAAGACTCGCGTATCTC 0.607 NA 4 71 0 0 0.009096 0 0 DGKK 139189 broad.mit.edu 37 X 50113550 50113550 + Splice_Site SNP T T A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chrX:50113550T>A uc010njr.1 - 28 3673 c.3613_splice c.e28-1 p.E1205_splice NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) AGATTTTTCCTGAGAAACCAC 0.403 NA 5 3 0 0 0.014758 0 0 PABPC5 140886 broad.mit.edu 37 X 90691565 90691565 + Missense_Mutation SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chrX:90691565G>A uc004efg.2 + 2 1429 c.989G>A c.(988-990)CGG>CAG p.R330Q PABPC5_uc004eff.1_Missense_Mutation_p.R166Q NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 330 RRM 4. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 TCAATTAGTCGGGCCAAAGTG 0.458 NA 42 19 0 0 0.042209 0 0 COL4A5 1287 broad.mit.edu 37 X 107846235 107846235 + Missense_Mutation SNP C C A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chrX:107846235C>A uc004enz.1 + 28 2390 c.2188C>A c.(2188-2190)CCT>ACT p.P730T COL4A5_uc011mso.1_Missense_Mutation_p.P730T|COL4A5_uc004eob.1_Missense_Mutation_p.P338T NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 730 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 ACCTGGGACACCTGGAAGAAT 0.443 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 4 2 1.23904e-05 1.37984e-05 0.014758 1 0 COL4A5 1287 broad.mit.edu 37 X 107930878 107930878 + Silent SNP T T A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chrX:107930878T>A uc004enz.1 + 48 4684 c.4482T>A c.(4480-4482)TCT>TCA p.S1494S COL4A5_uc011mso.1_Silent_p.S1491S|COL4A5_uc011msp.1_Silent_p.S170S NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 1488 Collagen IV NC1. S -> F (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 AAGGCTTTTCTCTCCTGTATG 0.433 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 30 102 0 0 0.050027 0 0 ATP1B4 23439 broad.mit.edu 37 X 119500506 119500506 + Missense_Mutation SNP G G A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chrX:119500506G>A uc004esr.2 + 2 274 c.190G>A c.(190-192)GAA>AAA p.E64K ATP1B4_uc004esq.2_Missense_Mutation_p.E64K|ATP1B4_uc011mtx.1_Missense_Mutation_p.E64K|ATP1B4_uc011mty.1_Missense_Mutation_p.E64K NM_001142447 NP_001135919 Q9UN42 AT1B4_HUMAN ATPase, (Na+)/K+ transporting, beta 4 64 Glu-rich.|Nuclear (Potential). ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity ovary(1)|skin(1) 2 agaagaggaggaagaggagga 0.353 NA 34 6 0 0 0.050027 0 0 FLNA 2316 broad.mit.edu 37 X 153593558 153593558 + Missense_Mutation SNP A A G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chrX:153593558A>G uc004fkk.2 - 11 1886 c.1637T>C c.(1636-1638)GTC>GCC p.V546A FLNA_uc010nuu.1_Missense_Mutation_p.V546A NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 546 Filamin 3. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGTTCCAGGGACCATGGGGTA 0.622 NA 69 23 0 0 0.048971 0 0 KIAA1522 57648 broad.mit.edu 37 1 33237139 33237139 + Frame_Shift_Del DEL T T - TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr1:33237139delT uc001bvv.2 + 6 2318 c.2182delT c.(2182-2184)TTCfs p.F728fs KIAA1522_uc001bvu.1_Frame_Shift_Del_p.F787fs|KIAA1522_uc010ohm.1_Frame_Shift_Del_p.F739fs|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 728 Pro-rich. 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CATGGCTGACTTCCCCCCACC 0.652 NA 30 76 --- --- --- --- NA NA NA NA NA C14orf39 317761 broad.mit.edu 37 14 60935256 60935257 + Splice_Site INS - - A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr14:60935256_60935257insA uc001xez.3 - 9 786 c.676_splice c.e9-1 p.Q226_splice C14orf39_uc010apo.2_Intron NM_174978 NP_777638 Q08AQ4 Q08AQ4_HUMAN hypothetical protein LOC317761 ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0448) AGATATCTGCTAAAAAGACAAT 0.282 NA 31 26 --- --- --- --- NA NA NA NA NA RAI1 10743 broad.mit.edu 37 17 17696953 17696954 + Frame_Shift_Ins INS - - A TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr17:17696953_17696954insA uc002grm.2 + 3 1160_1161 c.691_692insA c.(691-693)CAGfs p.Q231fs RAI1_uc002grn.1_Frame_Shift_Ins_p.Q231fs NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 231 Gln-rich. cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) GGGTGGTGGGCAGGGGGCCCAC 0.668 NA 20 72 --- --- --- --- NA NA NA NA NA NF1 4763 broad.mit.edu 37 17 29490318 29490321 + Frame_Shift_Del DEL CGGA CGGA - TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 CGGA CGGA - - CGGA CGGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr17:29490318_29490321delCGGA uc002hgg.2 + 4 736_739 c.403_406delCGGA c.(403-408)CGGAATfs p.R135fs NF1_uc002hge.1_Frame_Shift_Del_p.R135fs|NF1_uc002hgf.1_Frame_Shift_Del_p.R135fs|NF1_uc002hgh.2_Frame_Shift_Del_p.R135fs|NF1_uc010csn.1_Frame_Shift_Del_p.F30fs NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 135_136 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(5)|p.?(4)|p.L134fs*19(1)|p.R135fs*30(1) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AGCTGAACTTCGGAATTCTGCCTC 0.436 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 19 28 --- --- --- --- NA NA NA NA NA PRLR 5618 broad.mit.edu 37 5 35066004 35066004 + Frame_Shift_Del DEL C C - TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq fa8844f8-c4b6-487a-8187-e30c12a7a453 fc832d25-7dca-4b87-8df0-0fe45ca2c0fe g.chr5:35066004delC uc003jjm.2 - 10 1586 c.1056delG c.(1054-1056)GGGfs p.G352fs PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Frame_Shift_Del_p.G251fs NM_000949 NP_000940 P16471 PRLR_HUMAN prolactin receptor precursor 352 Cytoplasmic (Potential). activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity ovary(2)|skin(1) 3 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TGTCACAGCTCCCCCGGCCTG 0.498 NA 35 52 --- --- --- --- NA NA NA NA NA