Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut PLEKHG5 57449 broad.mit.edu 37 1 6531696 6531696 + Missense_Mutation SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:6531696A>T uc001ano.1 - 13 1402 c.1301T>A c.(1300-1302)GTG>GAG p.V434E PLEKHG5_uc001ann.1_Missense_Mutation_p.V415E|PLEKHG5_uc001anq.1_Missense_Mutation_p.V455E|PLEKHG5_uc001anp.1_Missense_Mutation_p.V455E|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_Missense_Mutation_p.V218E|PLEKHG5_uc010nzr.1_Missense_Mutation_p.V447E|PLEKHG5_uc001ank.1_Missense_Mutation_p.V378E|PLEKHG5_uc009vmb.1_Missense_Mutation_p.V378E|PLEKHG5_uc001anl.1_Missense_Mutation_p.V378E|PLEKHG5_uc001anm.1_Missense_Mutation_p.V378E|PLEKHG5_uc001anr.1_5'Flank NM_001042663 NP_001036128 O94827 PKHG5_HUMAN pleckstrin homology domain containing family G 434 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CTCCGCCTCCACCTGGGCGCG 0.736 NA 5 0 0 0 0 0 FBXO44 93611 broad.mit.edu 37 1 11718615 11718615 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:11718615G>A uc001asm.2 + 4 544 c.418G>A c.(418-420)GAC>AAC p.D140N FBXO44_uc001ask.2_Intron|FBXO44_uc010oaq.1_3'UTR|FBXO44_uc001asl.2_Missense_Mutation_p.D140N|FBXO44_uc001asn.2_Intron|FBXO44_uc010oar.1_Missense_Mutation_p.G130E|FBXO44_uc010oas.1_Intron NM_033182 NP_149438 Q9H4M3 FBX44_HUMAN F-box protein 44 isoform 1 140 FBA. protein catabolic process SCF ubiquitin ligase complex protein binding ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGTGGTGGACCTCAAGGC 0.662 NA 24 5 0 0 0 0 ECE1 1889 broad.mit.edu 37 1 21585219 21585219 + Silent SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:21585219G>C uc001bek.2 - 6 804 c.729C>G c.(727-729)GCC>GCG p.A243A ECE1_uc001bem.2_Silent_p.A227A|ECE1_uc001bej.2_Silent_p.A231A|ECE1_uc001bei.2_Silent_p.A240A|ECE1_uc010odl.1_Silent_p.A243A|ECE1_uc009vqa.1_Silent_p.A243A NM_001397 NP_001388 P42892 ECE1_HUMAN endothelin converting enzyme 1 isoform 1 243 Extracellular (Potential). bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity ovary(2)|skin(1) 3 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) TCTTGGAATCGGCACTGACAT 0.572 NA 7 31 0 0 0 0 OPRD1 4985 broad.mit.edu 37 1 29185555 29185555 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:29185555G>A uc001brf.1 + 2 559 c.317G>A c.(316-318)AGT>AAT p.S106N NM_000911 NP_000902 P41143 OPRD_HUMAN opioid receptor, delta 1 106 Extracellular (Potential). immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) CCTTTCCAGAGTGCCAAGTAC 0.537 NA 52 20 0 0 0 0 COL24A1 255631 broad.mit.edu 37 1 86590952 86590952 + Missense_Mutation SNP A A C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:86590952A>C uc001dlj.2 - 3 1109 c.1067T>G c.(1066-1068)ATC>AGC p.I356S COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.I356S NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 356 cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) TGCCTCACTGATGCGATGAGT 0.418 NA 25 19 0 0 0 0 CELSR2 1952 broad.mit.edu 37 1 109794098 109794098 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:109794098C>T uc001dxa.3 + 1 1458 c.1397C>T c.(1396-1398)ACG>ATG p.T466M NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 466 Cadherin 3.|Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GACTATGAGACGACCAAGGAG 0.547 NA 38 113 0 0 0 0 ZNF697 90874 broad.mit.edu 37 1 120165879 120165879 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:120165879C>T uc001ehy.1 - 3 1201 c.1087G>A c.(1087-1089)GTG>ATG p.V363M NM_001080470 NP_001073939 Q5TEC3 ZN697_HUMAN zinc finger protein 697 363 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) GAACGGCGCACGAAGCCCTTG 0.502 NA 2 1 0 0 0 0 OR10R2 343406 broad.mit.edu 37 1 158450008 158450008 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:158450008T>C uc010pik.1 + 1 341 c.341T>C c.(340-342)TTC>TCC p.F114S uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 114 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) ACAATCTCCTTCAACTGTTGT 0.438 NA 140 117 0 0 0 0 OR6K2 81448 broad.mit.edu 37 1 158669969 158669969 + Missense_Mutation SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:158669969C>G uc001fsu.1 - 1 474 c.474G>C c.(472-474)GAG>GAC p.E158D NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) TCCAGGCAATCTCAGGAAGGG 0.483 NA 11 45 0 0 0 0 KCNJ10 3766 broad.mit.edu 37 1 160011784 160011784 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:160011784C>T uc001fuw.1 - 2 689 c.539G>A c.(538-540)CGT>CAT p.R180H NM_002241 NP_002232 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily 180 Cytoplasmic (By similarity). integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity ovary(1) 1 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTGGCTGAAACGAATGGTCTC 0.562 NA 67 84 0 0 0 0 FCGR3A 2214 broad.mit.edu 37 1 161518384 161518384 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:161518384C>T uc001gat.3 - 4 283 c.146G>A c.(145-147)GGA>GAA p.G49E FCGR3A_uc001gar.2_Missense_Mutation_p.G85E|FCGR3A_uc001gas.2_Missense_Mutation_p.G84E|FCGR3A_uc009wuh.2_Missense_Mutation_p.G48E|FCGR3A_uc009wui.2_Missense_Mutation_p.G49E NM_001127595 NP_001121067 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor 49 Ig-like C2-type 1.|Extracellular (Potential). immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity ovary(1) 1 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) GGAGTAGGCTCCCTGGCACTT 0.542 NA 33 247 0 0 0 0 ACBD6 84320 broad.mit.edu 37 1 180399399 180399399 + Splice_Site SNP T T A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:180399399T>A uc001gog.2 - 4 1006 c.385_splice c.e4-1 p.I129_splice NM_032360 NP_115736 Q9BR61 ACBD6_HUMAN acyl-coenzyme A binding domain containing 6 cytoplasm|nucleus fatty-acyl-CoA binding ovary(1) 1 CTCTGGTATCTGTGGGAAGGA 0.323 NA 13 88 0 0 0 0 F13B 2165 broad.mit.edu 37 1 197032145 197032145 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:197032145G>A uc001gtt.1 - 2 151 c.107C>T c.(106-108)GCC>GTC p.A36V NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 36 Sushi 1. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 GTAATATTGGGCAATTCTTCC 0.323 NA 39 250 0 0 0 0 PIGR 5284 broad.mit.edu 37 1 207105858 207105858 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:207105858G>A uc001hez.2 - 8 2135 c.1951C>T c.(1951-1953)CTG>TTG p.L651L PIGR_uc009xbz.2_Silent_p.L651L NM_002644 NP_002635 P01833 PIGR_HUMAN polymeric immunoglobulin receptor precursor 651 Helical; (Potential). extracellular region|integral to plasma membrane protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 CCCACTGCCAGCACCAGGCCC 0.637 NA 47 65 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 216348641 216348641 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:216348641T>C uc001hku.1 - 21 4967 c.4580A>G c.(4579-4581)TAT>TGT p.Y1527C USH2A_uc001hkv.2_Missense_Mutation_p.Y1527C NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1527 Laminin G-like 1.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAATTTACAATACCCATTTCC 0.423 NA HNSCC(13;0.011) 10 55 0 0 0 0 AKR1C4 1109 broad.mit.edu 37 10 5247720 5247720 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr10:5247720C>A uc001ihw.2 + 4 403 c.370C>A c.(370-372)CCA>ACA p.P124T NM_001818 NP_001809 P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 124 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity ovary(1) 1 NADH(DB00157) TCTACTTCAGCCAGGTGAGAC 0.448 NA 20 4 1.01e-13 1.18e-13 1 0 GPRIN2 9721 broad.mit.edu 37 10 46999984 46999984 + Silent SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr10:46999984G>T uc001jec.2 + 3 1239 c.1104G>T c.(1102-1104)CTG>CTT p.L368L GPRIN2_uc010qfq.1_Silent_p.L131L NM_014696 NP_055511 O60269 GRIN2_HUMAN G protein-regulated inducer of neurite outgrowth 368 0 AGGTAACTCTGGGGTCCAGCC 0.672 NA 10 85 7.48e-07 8.28e-07 1 0 ZNF511 118472 broad.mit.edu 37 10 135123687 135123687 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr10:135123687G>A uc001lml.1 + 4 474 c.449G>A c.(448-450)GGC>GAC p.G150D TUBGCP2_uc001lmg.1_5'Flank|TUBGCP2_uc010qvc.1_5'Flank|TUBGCP2_uc009ybk.1_5'Flank|TUBGCP2_uc010qvd.1_5'Flank|TUBGCP2_uc001lmh.1_Intron|ZNF511_uc001lmj.1_Missense_Mutation_p.G150D|ZNF511_uc001lmk.1_Missense_Mutation_p.G150D|ZNF511_uc001lmm.1_RNA Q8NB15 ZN511_HUMAN SubName: Full=cDNA FLJ78327; SubName: Full=Zinc finger protein 511, isoform CRA_d; 150 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) TTGGTAGAAGGCTGCACAGAG 0.582 NA 52 72 0 0 0 0 MRPL23 6150 broad.mit.edu 37 11 1973401 1973401 + Missense_Mutation SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr11:1973401A>G uc001lux.2 + 3 276 c.185A>G c.(184-186)AAC>AGC p.N62S NM_021134 NP_066957 Q16540 RM23_HUMAN mitochondrial ribosomal protein L23 62 translation mitochondrial large ribosomal subunit nucleotide binding|RNA binding|structural constituent of ribosome large_intestine(2)|ovary(1) 3 all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842) GGCATCTATAACGTGCCCGTG 0.552 NA 25 20 0 0 0 0 VPS37C 55048 broad.mit.edu 37 11 60901634 60901634 + Missense_Mutation SNP G G A rs144006897 TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr11:60901634G>A uc001nqv.1 - 3 199 c.139C>T c.(139-141)CGG>TGG p.R47W VPS37C_uc001nqw.1_Missense_Mutation_p.R47W NM_017966 NP_060436 A5D8V6 VP37C_HUMAN vacuolar protein sorting 37C 47 cellular membrane organization|endosome transport|protein transport late endosome membrane 0 GCCAGGCTCCGGTTGGTGGCC 0.582 NA 22 62 0 0 0 0 KLC2 64837 broad.mit.edu 37 11 66031616 66031616 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr11:66031616C>T uc010rov.1 + 8 1285 c.1042C>T c.(1042-1044)CGG>TGG p.R348W KLC2_uc010row.1_Missense_Mutation_p.R348W|KLC2_uc009yra.2_Intron|KLC2_uc001ohb.2_Missense_Mutation_p.R348W|KLC2_uc010rox.1_Missense_Mutation_p.R271W|KLC2_uc001ohc.2_Missense_Mutation_p.R348W|KLC2_uc001ohd.2_Missense_Mutation_p.R271W|KLC2_uc001ohe.1_Missense_Mutation_p.R209W NM_001134775 NP_001128247 Q9H0B6 KLC2_HUMAN kinesin light chain 2 isoform 1 348 TPR 4. blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding 0 ATATTACTATCGGCGGGCACT 0.577 NA 3 1 0 0 0 0 GPR152 390212 broad.mit.edu 37 11 67219165 67219165 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr11:67219165G>A uc001olm.2 - 1 1036 c.1031C>T c.(1030-1032)CCG>CTG p.P344L uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank NM_206997 NP_996880 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 344 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CTCTGCCATCGGCTCTGGCAG 0.637 NA 12 31 0 0 0 0 MMP12 4321 broad.mit.edu 37 11 102734976 102734976 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr11:102734976C>T uc001phk.2 - 10 1258 c.1213G>A c.(1213-1215)GAA>AAA p.E405K NM_002426 NP_002417 P39900 MMP12_HUMAN matrix metalloproteinase 12 preproprotein 405 Hemopexin-like 3. positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGTCTCCTTTCATCATACCTG 0.448 NA 5 21 0 0 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1963138 1963138 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:1963138G>A uc001qjp.2 - 23 2456 c.2225C>T c.(2224-2226)GCG>GTG p.A742V CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.A606V|CACNA2D4_uc009zdr.1_RNA NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 742 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) GAGGGCCAGCGCTGTCCAGTA 0.617 NA 4 15 0 0 0 0 ANO2 57101 broad.mit.edu 37 12 6055399 6055399 + Splice_Site SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:6055399G>A uc001qnm.2 - 1 1 c.-71_splice c.e1-1 NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 AGGAGCCTGGGGAAGCAAAGG 0.473 NA 3 45 0 0 0 0 ACSM4 341392 broad.mit.edu 37 12 7469736 7469736 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:7469736C>T uc001qsx.1 + 4 624 c.624C>T c.(622-624)TTC>TTT p.F208F NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 208 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding 0 TTTGCAGATTCGCCTCTGAAG 0.483 NA 10 23 0 0 0 0 ATF7IP 55729 broad.mit.edu 37 12 14591118 14591118 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:14591118G>A uc001rbw.2 + 5 2004 c.1846G>A c.(1846-1848)GAT>AAT p.D616N ATF7IP_uc010shs.1_Missense_Mutation_p.D615N|ATF7IP_uc001rbu.2_Missense_Mutation_p.D616N|ATF7IP_uc001rbv.1_Missense_Mutation_p.D615N|ATF7IP_uc001rbx.2_Missense_Mutation_p.D615N|ATF7IP_uc010sht.1_Missense_Mutation_p.D616N|ATF7IP_uc001rby.3_Missense_Mutation_p.D616N|ATF7IP_uc001rca.2_Missense_Mutation_p.D616N NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 616 Interaction with SETDB1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 TGCTGTATTTGATAAGACTTT 0.383 NA 10 36 0 0 0 0 PTPRO 5800 broad.mit.edu 37 12 15669884 15669884 + Silent SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:15669884A>T uc001rcv.1 + 9 1947 c.1773A>T c.(1771-1773)GCA>GCT p.A591A PTPRO_uc001rcw.1_Silent_p.A591A|PTPRO_uc001rcu.1_Silent_p.A591A NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 591 Fibronectin type-III 6.|Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) CCTTAACTGCATCCGTGGTAA 0.373 NA 59 82 0 0 0 0 PLCZ1 89869 broad.mit.edu 37 12 18872484 18872484 + Silent SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:18872484A>G uc010sid.1 - 5 641 c.450T>C c.(448-450)TGT>TGC p.C150C PLCZ1_uc001rdv.3_Silent_p.C46C|PLCZ1_uc001rdw.3_Intron|PLCZ1_uc009zil.1_RNA NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 150 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) AAACTTTTCTACATTCATTTT 0.279 NA 3 17 0 0 0 0 ST8SIA1 6489 broad.mit.edu 37 12 22487097 22487097 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:22487097G>A uc001rfo.3 - 1 552 c.70C>T c.(70-72)CCG>TCG p.P24S ST8SIA1_uc009zix.2_5'UTR|uc001rfp.1_Intron NM_003034 NP_003025 Q92185 SIA8A_HUMAN alpha-2,8-sialyltransferase 1 24 Cytoplasmic (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(3) 3 CGGGTCCGCGGGAACTTCCAC 0.692 NA 67 85 0 0 0 0 PTPRB 5787 broad.mit.edu 37 12 70925945 70925945 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:70925945C>A uc001swb.3 - 30 5750 c.5720G>T c.(5719-5721)GGT>GTT p.G1907V uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.G1817V|PTPRB_uc010stp.1_Missense_Mutation_p.G1817V|PTPRB_uc001swc.3_Missense_Mutation_p.G2125V|PTPRB_uc001swa.3_Missense_Mutation_p.G2037V NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1907 Cytoplasmic (Potential).|Substrate binding (By similarity).|Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CCTACCCACACCAGCACTAGA 0.433 NA 11 28 5.51e-06 5.98e-06 1 0 PTPRR 5801 broad.mit.edu 37 12 71078046 71078046 + Splice_Site SNP T T A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:71078046T>A uc001swi.1 - 10 1776 c.1360_splice c.e10-1 p.G454_splice PTPRR_uc001swh.1_Splice_Site_p.G209_splice|PTPRR_uc009zrs.2_Splice_Site_p.G303_splice|PTPRR_uc010stq.1_Splice_Site_p.G342_splice|PTPRR_uc010str.1_Splice_Site_p.G303_splice NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) ACTGTAGCCCTAGATGGAGTA 0.453 NA 14 27 0 0 0 0 HCFC2 29915 broad.mit.edu 37 12 104492210 104492210 + Missense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:104492210G>T uc001tkj.3 + 13 1933 c.1830G>T c.(1828-1830)TTG>TTT p.L610F HCFC2_uc009zul.2_RNA NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 610 Fibronectin type-III 2. regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity ovary(2)|central_nervous_system(1) 3 ATACAGCTTTGGTGAGCCAGT 0.378 NA 30 42 3.74e-18 4.44e-18 1 0 KIAA1033 23325 broad.mit.edu 37 12 105536970 105536970 + Silent SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:105536970T>C uc001tld.2 + 20 2046 c.1959T>C c.(1957-1959)TAT>TAC p.Y653Y KIAA1033_uc010swr.1_Silent_p.Y654Y|KIAA1033_uc010sws.1_Silent_p.Y465Y NM_015275 NP_056090 Q2M389 WAHS7_HUMAN hypothetical protein LOC23325 653 endosome transport WASH complex kidney(1)|central_nervous_system(1) 2 TAGAGTCCTATGAGATACTTC 0.333 NA 3 32 0 0 0 0 NUAK1 9891 broad.mit.edu 37 12 106461007 106461007 + Missense_Mutation SNP C C T rs117517173 byFrequency TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:106461007C>T uc001tlj.1 - 7 2939 c.1559G>A c.(1558-1560)CGG>CAG p.R520Q NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 520 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 GCCCTTCCTCCGGCAGGAGAG 0.607 NA 4 96 0 0 0 0 DDX54 79039 broad.mit.edu 37 12 113599728 113599728 + Missense_Mutation SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:113599728C>G uc001tup.2 - 18 2298 c.2270G>C c.(2269-2271)CGC>CCC p.R757P DDX54_uc001tuq.3_Missense_Mutation_p.R757P NM_024072 NP_076977 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 757 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity skin(2)|central_nervous_system(1) 3 GCTGATGTAGCGGCCGCTCTC 0.582 NA 48 92 0 0 0 0 RIMBP2 23504 broad.mit.edu 37 12 130898786 130898786 + Missense_Mutation SNP C C T rs138034003 TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:130898786C>T uc001uil.2 - 14 2700 c.2536G>A c.(2536-2538)GAA>AAA p.E846K NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 846 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GGGAGCTCTTCGGCACCAGGG 0.567 NA 29 57 0 0 0 0 FLT1 2321 broad.mit.edu 37 13 28896990 28896990 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr13:28896990C>T uc001usb.3 - 21 3175 c.2890G>A c.(2890-2892)GAA>AAA p.E964K FLT1_uc010aap.2_5'Flank|FLT1_uc010aaq.2_Missense_Mutation_p.E89K|FLT1_uc001usa.3_Missense_Mutation_p.E182K NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 964 Cytoplasmic (Potential).|Protein kinase. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) GCAAAGCTTTCGCTGCTGGTG 0.478 NA 4 109 0 0 0 0 FREM2 341640 broad.mit.edu 37 13 39266020 39266021 + Nonsense_Mutation DNP TG TG CT TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr13:39266020_39266021TG>CT uc001uwv.2 + 1 4848_4849 c.4539_4540TG>CT c.(4537-4542)GATGGA>GACTGA p.G1514* NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1514 Extracellular (Potential).|CSPG 10. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AAGTCACCGATGGACGTAACCC 0.45 NA 18 57 0 0 0 0 DPF3 8110 broad.mit.edu 37 14 73198527 73198527 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr14:73198527G>C uc001xnc.2 - 4 430 c.417C>G c.(415-417)ATC>ATG p.I139M DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.I139M|DPF3_uc010ttq.1_Missense_Mutation_p.I149M NM_012074 NP_036206 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 139 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GTATTTCCTGGATGCTTTCCT 0.577 NA 5 16 0 0 0 0 NUMB 8650 broad.mit.edu 37 14 73749071 73749071 + Missense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr14:73749071G>T uc001xny.1 - 11 1412 c.1092C>A c.(1090-1092)TTC>TTA p.F364L NUMB_uc010aro.1_Intron|NUMB_uc010arp.1_Intron|NUMB_uc010arq.1_Missense_Mutation_p.F266L|NUMB_uc010arr.1_Missense_Mutation_p.F255L|NUMB_uc001xoa.1_Missense_Mutation_p.F364L|NUMB_uc001xnz.1_Missense_Mutation_p.F353L|NUMB_uc001xob.1_Missense_Mutation_p.F353L|NUMB_uc001xod.1_Missense_Mutation_p.F364L|NUMB_uc001xoc.1_Missense_Mutation_p.F364L|NUMB_uc010ars.1_Missense_Mutation_p.F353L|NUMB_uc010ttz.1_Missense_Mutation_p.F110L NM_001005743 NP_001005743 P49757 NUMB_HUMAN numb homolog isoform 1 364 axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane ovary(2)|central_nervous_system(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) accaaccttggaaggtaggag 0.323 NA 7 30 5.18e-06 5.65e-06 1 0 ATP8B4 79895 broad.mit.edu 37 15 50273431 50273431 + Missense_Mutation SNP T T G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr15:50273431T>G uc001zxu.2 - 11 951 c.809A>C c.(808-810)GAT>GCT p.D270A ATP8B4_uc010ber.2_Missense_Mutation_p.D143A|ATP8B4_uc010ufd.1_Missense_Mutation_p.D143A|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 270 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CATCAATCTATCAATGCTTGT 0.308 NA 6 33 0 0 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58357778 58357778 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr15:58357778T>C uc002aex.2 - 1 129 c.71A>G c.(70-72)CAC>CGC p.H24R ALDH1A2_uc002aey.2_Missense_Mutation_p.H24R|ALDH1A2_uc010ugv.1_5'UTR|ALDH1A2_uc010ugw.1_Intron NM_003888 NP_003879 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1A2 isoform 1 24 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CGGCAGGAGGTGCAGCGACGC 0.652 NA 9 35 0 0 0 0 MFGE8 4240 broad.mit.edu 37 15 89449094 89449094 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr15:89449094G>A uc002bng.3 - 5 692 c.579C>T c.(577-579)GTC>GTT p.V193V MFGE8_uc002bnf.3_Silent_p.V81V|MFGE8_uc002bnh.3_Silent_p.V193V|MFGE8_uc010bnn.2_Silent_p.V185V|MFGE8_uc010upq.1_Silent_p.V149V|MFGE8_uc010upr.1_Silent_p.V193V NM_005928 NP_005919 Q08431 MFGM_HUMAN milk fat globule-EGF factor 8 protein isoform a 193 F5/8 type C 1. angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization ovary(1) 1 Lung NSC(78;0.0392)|all_lung(78;0.077) CAAACAGGTTGACATGCACCG 0.582 NA 22 62 0 0 0 0 TEKT5 146279 broad.mit.edu 37 16 10788293 10788293 + Silent SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr16:10788293C>G uc002czz.1 - 1 510 c.438G>C c.(436-438)TCG>TCC p.S146S NM_144674 NP_653275 Q96M29 TEKT5_HUMAN tektin 5 146 Potential. microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 AGCCAATGTCCGACAGCCTCT 0.612 NA 31 119 0 0 0 0 ABCC11 85320 broad.mit.edu 37 16 48250115 48250115 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr16:48250115C>T uc002eff.1 - 6 1211 c.861G>A c.(859-861)TCG>TCA p.S287S ABCC11_uc002efg.1_Silent_p.S287S|ABCC11_uc002efh.1_Silent_p.S287S|ABCC11_uc010vgk.1_5'Flank|ABCC11_uc010vgl.1_Silent_p.S287S NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 287 ABC transmembrane type-1 1.|Helical; (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) AGATGACCAGCGATGCGCAGG 0.468 NA Cerumen_Type 27 114 0 0 0 0 SNX20 124460 broad.mit.edu 37 16 50709754 50709754 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr16:50709754C>A uc002egk.2 - 3 382 c.209G>T c.(208-210)CGC>CTC p.R70L SNX20_uc010vgp.1_Missense_Mutation_p.R70L|SNX20_uc002egi.3_Missense_Mutation_p.R70L NM_182854 NP_878274 Q7Z614 SNX20_HUMAN sorting nexin 20 isoform 1 70 cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding ovary(1) 1 GTGCTTCCAGCGGCATTTCTG 0.522 NA 12 57 0.000978159 0.00101578 1 0 ZNF276 92822 broad.mit.edu 37 16 89789220 89789220 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr16:89789220G>A uc002fos.3 + 2 584 c.487G>A c.(487-489)GGT>AGT p.G163S C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Missense_Mutation_p.G88S|ZNF276_uc002foq.3_Missense_Mutation_p.G88S|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank NM_001113525 NP_001106997 Q8N554 ZN276_HUMAN zinc finger protein 276 isoform a 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCCCCGGCTGGTCGCCGGAA 0.592 NA 7 45 0 0 0 0 DHX33 56919 broad.mit.edu 37 17 5365857 5365857 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:5365857T>C uc002gca.2 - 3 462 c.460A>G c.(460-462)ACA>GCA p.T154A DHX33_uc002gbz.2_5'Flank|DHX33_uc002gcb.2_Translation_Start_Site|DHX33_uc010clf.2_Intron NM_020162 NP_064547 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 154 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(1)|pancreas(1) 2 AAGCGCACTGTATAGCCAACC 0.294 NA 18 60 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7577574 7577574 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:7577574T>C uc002gim.2 - 7 901 c.707A>G c.(706-708)TAC>TGC p.Y236C TP53_uc002gig.1_Missense_Mutation_p.Y236C|TP53_uc002gih.2_Missense_Mutation_p.Y236C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y104C|TP53_uc010cng.1_Missense_Mutation_p.Y104C|TP53_uc002gii.1_Missense_Mutation_p.Y104C|TP53_uc010cnh.1_Missense_Mutation_p.Y236C|TP53_uc010cni.1_Missense_Mutation_p.Y236C|TP53_uc002gij.2_Missense_Mutation_p.Y236C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y143C|TP53_uc002gio.2_Missense_Mutation_p.Y104C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 236 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> S (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y236C(46)|p.Y236N(12)|p.Y236*(9)|p.Y236H(9)|p.0?(7)|p.Y236D(6)|p.Y236del(4)|p.Y236S(3)|p.Y236Y(2)|p.Y236fs*4(2)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.Y236fs*5(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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) GTTACACATGTAGTTGTAGTG 0.572 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 30 29 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:7578212G>A uc002gim.2 - 6 831 c.637C>T c.(637-639)CGA>TGA p.R213* TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 213 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) ACACTATGTCGAAAAGTGTTT 0.532 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 14 25 0 0 0 0 PFAS 5198 broad.mit.edu 37 17 8170695 8170695 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:8170695C>T uc002gkr.2 + 25 3322 c.3181C>T c.(3181-3183)CCC>TCC p.P1061S PFAS_uc010vuv.1_Missense_Mutation_p.P637S|PFAS_uc002gks.2_Missense_Mutation_p.P140S NM_012393 NP_036525 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 1061 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding ovary(2)|central_nervous_system(2)|pancreas(1) 5 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCAAGGTGGTCCCAGCCCCCG 0.607 NA 70 110 0 0 0 0 ZNF18 7566 broad.mit.edu 37 17 11895778 11895778 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:11895778G>A uc002gng.1 - 4 974 c.369C>T c.(367-369)CCC>CCT p.P123P ZNF18_uc002gnh.1_Silent_p.P123P|ZNF18_uc002gni.1_Silent_p.P123P NM_144680 NP_653281 P17022 ZNF18_HUMAN zinc finger protein 18 123 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1) 1 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) ACAGTCTCTGGGGGTCCCCCT 0.512 NA 25 33 0 0 0 0 USP22 23326 broad.mit.edu 37 17 20924462 20924462 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:20924462C>T uc002gym.3 - 3 586 c.382G>A c.(382-384)GCC>ACC p.A128T USP22_uc002gyn.3_Missense_Mutation_p.A116T|USP22_uc002gyl.3_Missense_Mutation_p.A23T NM_015276 NP_056091 Q9UPT9 UBP22_HUMAN ubiquitin thiolesterase 22 128 cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1) 1 TCCTCCTTGGCGATTATTTCC 0.483 NA 18 28 0 0 0 0 MAP2K3 5606 broad.mit.edu 37 17 21215472 21215472 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:21215472C>T uc002gys.2 + 10 1058 c.793C>T c.(793-795)CGG>TGG p.R265W MAP2K3_uc002gyt.2_Missense_Mutation_p.R236W|MAP2K3_uc002gyu.2_Missense_Mutation_p.R236W NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 265 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) GGCCATCCTGCGGTTCCCTTA 0.677 NA 4 48 0 0 0 0 MYO19 80179 broad.mit.edu 37 17 34863298 34863298 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:34863298G>C uc010wcy.1 - 17 2399 c.1407C>G c.(1405-1407)AAC>AAG p.N469K MYO19_uc002hmw.2_Intron|MYO19_uc010cuu.2_RNA|MYO19_uc010wcz.1_RNA NM_001163735 NP_001157207 Q96H55 MYO19_HUMAN myosin XIX isoform 2 469 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity ovary(1) 1 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AACAGGGCTGGTTGTCCTGGT 0.542 NA 39 32 0 0 0 0 PNMT 5409 broad.mit.edu 37 17 37826489 37826489 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:37826489G>A uc002hsi.1 + 3 918 c.696G>A c.(694-696)GTG>GTA p.V232V NM_002686 NP_002677 P11086 PNMT_HUMAN phenylethanolamine N-methyltransferase 232 catecholamine biosynthetic process|hormone biosynthetic process cytosol phenylethanolamine N-methyltransferase activity ovary(1) 1 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TGACGGTGGTGCCAGTGTCTG 0.662 NA 9 4 0 0 0 0 ERBB2 2064 broad.mit.edu 37 17 37865676 37865676 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:37865676C>T uc002hso.2 + 4 783 c.545C>T c.(544-546)ACA>ATA p.T182I ERBB2_uc002hsm.2_Missense_Mutation_p.T152I|ERBB2_uc010cwa.2_Missense_Mutation_p.T167I|ERBB2_uc002hsp.2_5'UTR|ERBB2_uc010cwb.2_Missense_Mutation_p.T182I|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Missense_Mutation_p.T152I|ERBB2_uc002hsn.1_Missense_Mutation_p.T182I NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 182 Extracellular (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CTGGCTCTCACACTGATAGAC 0.562 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 14 36 0 0 0 0 TMUB2 79089 broad.mit.edu 37 17 42266692 42266692 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:42266692C>T uc002ifo.2 + 3 495 c.338C>T c.(337-339)GCG>GTG p.A113V C17orf65_uc002ifn.2_5'Flank|TMUB2_uc002ifp.2_Missense_Mutation_p.A93V|TMUB2_uc010wiu.1_Intron|TMUB2_uc002ifq.2_Missense_Mutation_p.A113V|TMUB2_uc002ifr.2_Intron|TMUB2_uc002ifs.2_Intron|TMUB2_uc002ift.2_Missense_Mutation_p.A93V|TMUB2_uc002ifu.2_Intron|TMUB2_uc002ifv.2_Missense_Mutation_p.A93V|TMUB2_uc002ifw.1_Missense_Mutation_p.A93V|TMUB2_uc002ifx.2_Intron|TMUB2_uc002ify.2_Intron NM_001076674 NP_001070142 Q71RG4 TMUB2_HUMAN transmembrane and ubiquitin-like domain 113 integral to membrane lung(1) 1 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) GCTGAAGAGGCGGGTGAAGGT 0.612 NA 3 54 0 0 0 0 EFTUD2 9343 broad.mit.edu 37 17 42940103 42940103 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:42940103G>A uc002ihn.2 - 16 1846 c.1585C>T c.(1585-1587)CGC>TGC p.R529C EFTUD2_uc010wje.1_Missense_Mutation_p.R494C|EFTUD2_uc010wjf.1_Missense_Mutation_p.R519C NM_004247 NP_004238 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain 529 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding ovary(1) 1 Prostate(33;0.109) ATCCAAAGGCGGCCCACGGTG 0.597 NA 3 24 0 0 0 0 ERN1 2081 broad.mit.edu 37 17 62126509 62126509 + Silent SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:62126509A>T uc002jdz.2 - 18 2420 c.2307T>A c.(2305-2307)TCT>TCA p.S769S NM_001433 NP_001424 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signalling 1 769 Cytoplasmic (Potential).|Protein kinase. S -> F (in a glioblastoma multiforme sample; somatic mutation). activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.S769F(1) central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1) 9 GGCTGCCCTCAGAGATTACGT 0.557 NA 18 23 0 0 0 0 CACNG4 27092 broad.mit.edu 37 17 65026643 65026643 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:65026643C>A uc002jft.1 + 4 522 c.507C>A c.(505-507)GAC>GAA p.D169E NM_014405 NP_055220 Q9UBN1 CCG4_HUMAN voltage-dependent calcium channel gamma-4 169 Extracellular (Potential). membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1) 1 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) ACCCGAGTGACAAGCGGGACG 0.547 NA 35 72 2.68e-12 3.12e-12 1 0 ZACN 353174 broad.mit.edu 37 17 74077642 74077642 + Missense_Mutation SNP C C T rs140656208 by1000genomes TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:74077642C>T uc002jqn.2 + 7 769 c.686C>T c.(685-687)ACG>ATG p.T229M ZACN_uc002jqo.2_RNA|ZACN_uc010dgu.2_Intron|EXOC7_uc002jqp.1_3'UTR|EXOC7_uc010dgv.1_3'UTR|EXOC7_uc002jqs.2_3'UTR|EXOC7_uc002jqq.2_3'UTR|EXOC7_uc010wsw.1_3'UTR|EXOC7_uc010wsx.1_3'UTR|EXOC7_uc002jqr.2_3'UTR|EXOC7_uc010wsv.1_3'UTR NM_180990 NP_851321 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 229 Extracellular (Potential).|Leu-rich. response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity 0 CTGAAGAACACGGCGCTCAAG 0.662 NA 30 83 0 0 0 0 CCDC57 284001 broad.mit.edu 37 17 80121141 80121141 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:80121141C>T uc002kdz.1 - 14 2330 c.1975G>A c.(1975-1977)GCA>ACA p.A659T CCDC57_uc002kdx.1_Missense_Mutation_p.A659T|CCDC57_uc010dik.1_Missense_Mutation_p.A167T NM_198082 NP_932348 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 659 ovary(2) 2 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) TTCCTGAGTGCCAGTCCAGAG 0.587 NA 4 119 0 0 0 0 ZNF750 79755 broad.mit.edu 37 17 80790065 80790065 + Missense_Mutation SNP T T A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr17:80790065T>A uc002kga.2 - 2 577 c.266A>T c.(265-267)AAG>ATG p.K89M TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.2_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN zinc finger protein 750 89 intracellular zinc ion binding central_nervous_system(1) 1 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGCGACAGACTTGGAAGAGGC 0.557 NA 22 52 0 0 0 0 WDR7 23335 broad.mit.edu 37 18 54385258 54385258 + Nonsense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr18:54385258C>T uc002lgk.1 + 13 1853 c.1642C>T c.(1642-1644)CGA>TGA p.R548* WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Nonsense_Mutation_p.R548* NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 548 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) TCTAAGTTTGCGAGAGAAAAA 0.408 NA 21 35 0 0 0 0 AP3D1 8943 broad.mit.edu 37 19 2121212 2121212 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:2121212G>A uc002luz.2 - 13 1423 c.1200C>T c.(1198-1200)ATC>ATT p.I400I AP3D1_uc002luy.2_Silent_p.I309I|AP3D1_uc002lva.2_Silent_p.I400I NM_003938 NP_003929 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 400 HEAT 8. eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity 0 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)|STAD - Stomach adenocarcinoma(1328;0.18) AGATGTCAATGATCTTGGTGA 0.582 NA 26 26 0 0 0 0 PIN1 5300 broad.mit.edu 37 19 9959816 9959816 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:9959816G>A uc002mml.1 + 4 455 c.433G>A c.(433-435)GAG>AAG p.E145K PIN1_uc002mmm.1_3'UTR|PIN1_uc002mmn.1_RNA NM_006221 NP_006212 Q13526 PIN1_HUMAN protein (peptidyl-prolyl cis/trans isomerase) 145 PpiC. cell cycle|negative regulation of cell motility|negative regulation of ERK1 and ERK2 cascade|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation nucleoplasm GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding skin(1) 1 GCGGACGGGGGAGATGAGCGG 0.687 NA 11 22 0 0 0 0 KEAP1 9817 broad.mit.edu 37 19 10600447 10600447 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:10600447G>A uc002moq.1 - 4 1564 c.1408C>T c.(1408-1410)CGT>TGT p.R470C KEAP1_uc002mop.1_Missense_Mutation_p.R188C|KEAP1_uc002mor.1_Missense_Mutation_p.R470C NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 470 Kelch 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) TAAAGGAGACGATTGAGGACA 0.557 NA 16 13 0 0 0 0 SLC27A1 376497 broad.mit.edu 37 19 17597588 17597588 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:17597588C>T uc002ngu.1 + 2 434 c.384C>T c.(382-384)GGC>GGT p.G128G SLC27A1_uc002ngt.1_Intron|SLC27A1_uc010xpp.1_5'UTR NM_198580 NP_940982 Q6PCB7 S27A1_HUMAN solute carrier family 27, member 1 128 Cytoplasmic (Potential). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding 0 TCGCGCCGGGCGACGTGGTGG 0.697 NA 6 9 0 0 0 0 ZNF100 163227 broad.mit.edu 37 19 21948566 21948566 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:21948566C>T uc002nqi.2 - 2 225 c.26G>A c.(25-27)TGT>TAT p.C9Y NM_173531 NP_775802 Q8IYN0 ZN100_HUMAN zinc finger protein 100 9 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTGAGAGGACACATTCCATA 0.468 NA 17 45 0 0 0 0 ZNF208 7757 broad.mit.edu 37 19 22155123 22155123 + Missense_Mutation SNP T T G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:22155123T>G uc002nqp.2 - 5 2562 c.2413A>C c.(2413-2415)ACT>CCT p.T805P ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TCATGTTTAGTAAGGATGGAG 0.378 NA 8 28 0 0 0 0 ZFP30 22835 broad.mit.edu 37 19 38127001 38127001 + Silent SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:38127001C>G uc002ogv.1 - 6 957 c.441G>C c.(439-441)CTG>CTC p.L147L ZFP30_uc002ogw.1_Silent_p.L147L|ZFP30_uc002ogx.1_Silent_p.L147L|ZFP30_uc010xtt.1_Silent_p.L146L NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN zinc finger protein 30 homolog 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTTCTGATACAGAGGAAGAG 0.393 NA 22 150 0 0 0 0 NUMBL 9253 broad.mit.edu 37 19 41188693 41188693 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:41188693G>A uc002oon.2 - 5 507 c.339C>T c.(337-339)TCC>TCT p.S113S NUMBL_uc010xvq.1_Silent_p.S72S|NUMBL_uc002ooo.2_Silent_p.S113S|NUMBL_uc010xvr.1_Silent_p.S72S NM_004756 NP_004747 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 113 PID. cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding lung(3)|ovary(1)|breast(1) 5 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) CAGACTTCACGGACTTTCGGC 0.652 NA 17 133 0 0 0 0 GRLF1 2909 broad.mit.edu 37 19 47423172 47423172 + Nonsense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:47423172C>T uc010ekv.2 + 1 1240 c.1240C>T c.(1240-1242)CAG>TAG p.Q414* NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 414 FF 2. Q -> A (in Ref. 1; AAF80386 and 6; AAA58618). axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) CCCTGCAGAGCAGCTATACGA 0.468 NA 73 30 0 0 0 0 KDELR1 10945 broad.mit.edu 37 19 48887692 48887692 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:48887692C>T uc002pjb.1 - 4 594 c.399G>A c.(397-399)CCG>CCA p.P133P KDELR1_uc002pja.1_Silent_p.P71P NM_006801 NP_006792 P24390 ERD21_HUMAN KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum 133 Helical; (Potential). intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction KDEL sequence binding|protein binding|receptor activity 0 all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203) all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145) TGAACAGCTGCGGCAAGATGG 0.582 NA 10 8 0 0 0 0 KLK4 9622 broad.mit.edu 37 19 51411651 51411651 + Nonsense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:51411651G>T uc002pua.1 - 4 576 c.576C>A c.(574-576)TGC>TGA p.C192* KLK4_uc002pty.1_Intron|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_Nonsense_Mutation_p.C97*|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_3'UTR|KLK4_uc002pud.1_Nonsense_Mutation_p.C97* NM_004917 NP_004908 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 preproprotein 192 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) CTCCGCCGGCGCAGAACATGC 0.622 NA 56 52 6.31e-27 7.68e-27 1 0 ZNF320 162967 broad.mit.edu 37 19 53384345 53384345 + Missense_Mutation SNP T T A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:53384345T>A uc002qag.2 - 4 1225 c.1034A>T c.(1033-1035)GAA>GTA p.E345V ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.E291V|ZNF320_uc002qai.2_Missense_Mutation_p.E345V NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 345 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) CCTATGTCTTTCAAGATGTGA 0.428 NA 66 25 0 0 0 0 TMEM150B 284417 broad.mit.edu 37 19 55831420 55831420 + Missense_Mutation SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:55831420A>T uc010esw.1 - 6 484 c.311T>A c.(310-312)GTA>GAA p.V104E TMEM150B_uc010yfu.1_Missense_Mutation_p.V104E|TMEM150B_uc010yfv.1_RNA|TMEM150B_uc010yfw.1_RNA|TMEM150B_uc002qki.2_Missense_Mutation_p.V104E NM_001085488 NP_001078957 A6NC51 T150B_HUMAN transmembrane protein 150B precursor 104 Helical; (Potential). integral to membrane 0 GAAATTGCCTACCACGGAGGT 0.617 NA 63 12 0 0 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58565249 58565249 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr19:58565249C>T uc002qrc.1 + 6 1304 c.1057C>T c.(1057-1059)CGG>TGG p.R353W NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 353 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GAAAGCCCCCCGGAGCAAGGG 0.662 NA 27 11 0 0 0 0 ASAP2 8853 broad.mit.edu 37 2 9528612 9528612 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr2:9528612G>C uc002qzh.2 + 22 2660 c.2320G>C c.(2320-2322)GCC>CCC p.A774P ASAP2_uc002qzi.2_Missense_Mutation_p.A774P NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 774 Pro-rich. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 CCCACCTCCCGCCCAGCCTGC 0.587 NA 4 23 0 0 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530203 80530203 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr2:80530203C>T uc002sok.1 - 2 1012 c.742G>A c.(742-744)GTG>ATG p.V248M CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 248 LRR 7.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GAGCTGACCACAATGGCCACC 0.592 NA HNSCC(69;0.2) 18 55 0 0 0 0 PROM2 150696 broad.mit.edu 37 2 95947688 95947688 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr2:95947688G>A uc002suh.1 + 13 1700 c.1567G>A c.(1567-1569)GGG>AGG p.G523R PROM2_uc002sui.2_Missense_Mutation_p.G523R|PROM2_uc002suj.2_Missense_Mutation_p.G177R|PROM2_uc002suk.2_Missense_Mutation_p.G523R|PROM2_uc002sul.2_Missense_Mutation_p.G49R|PROM2_uc002sum.2_RNA NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor 523 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 AGACACCCCAGGGAACCTGCC 0.627 NA 19 39 0 0 0 0 ITPRIPL1 150771 broad.mit.edu 37 2 96993685 96993685 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr2:96993685C>T uc002svx.2 + 3 1651 c.1316C>T c.(1315-1317)GCA>GTA p.A439V ITPRIPL1_uc010yuk.1_Missense_Mutation_p.A431V|ITPRIPL1_uc002svy.2_Missense_Mutation_p.A447V|ITPRIPL1_uc010yul.1_Missense_Mutation_p.A431V NM_001008949 NP_001008949 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-triphosphate receptor interacting 439 Cytoplasmic (Potential). integral to membrane central_nervous_system(2)|ovary(1) 3 CCCCATGGAGCATCCCGCCCC 0.562 NA 42 67 0 0 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135911438 135911438 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr2:135911438G>A uc002tuj.2 + 19 2306 c.2281G>A c.(2281-2283)GCA>ACA p.A761T RAB3GAP1_uc010fnf.2_Missense_Mutation_p.A761T|RAB3GAP1_uc010fng.2_Missense_Mutation_p.A586T|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 761 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) TACACGGGAAGCAGAAAAGGT 0.418 NA 5 36 0 0 0 0 ZEB2 9839 broad.mit.edu 37 2 145187516 145187516 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr2:145187516C>T uc002tvu.2 - 3 631 c.151G>A c.(151-153)GGT>AGT p.G51S ZEB2_uc002tvv.2_Missense_Mutation_p.G46S|ZEB2_uc010zbm.1_Missense_Mutation_p.G46S|ZEB2_uc010fnp.2_Missense_Mutation_p.G46S|ZEB2_uc010fnq.1_Missense_Mutation_p.G80S|ZEB2_uc002tvw.2_Missense_Mutation_p.G46S NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 51 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) TTGGCAATACCGTCATCCTCA 0.502 NA 12 79 0 0 0 0 SSFA2 6744 broad.mit.edu 37 2 182783567 182783567 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr2:182783567G>A uc002uoi.2 + 13 3273 c.2951G>A c.(2950-2952)CGT>CAT p.R984H SSFA2_uc002uoh.2_Missense_Mutation_p.R984H|SSFA2_uc002uoj.2_Missense_Mutation_p.R984H|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.R831H|SSFA2_uc002uol.2_Missense_Mutation_p.R831H|SSFA2_uc002uom.2_Missense_Mutation_p.R452H NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 984 Potential. cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) GCAATGCTGCGTCAGCAAACC 0.383 NA 19 64 0 0 0 0 KIF1A 547 broad.mit.edu 37 2 241706365 241706365 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr2:241706365C>T uc002vzy.2 - 18 1770 c.1624G>A c.(1624-1626)GTC>ATC p.V542I KIF1A_uc010fzk.2_Missense_Mutation_p.V551I|KIF1A_uc002vzz.1_Missense_Mutation_p.V551I NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 542 FHA. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CTCCGGAAGACGCAGTGCTCC 0.637 NA 4 8 0 0 0 0 SUN5 140732 broad.mit.edu 37 20 31583478 31583478 + Missense_Mutation SNP T T A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr20:31583478T>A uc002wyi.2 - 8 574 c.481A>T c.(481-483)AGC>TGC p.S161C NM_080675 NP_542406 Q8TC36 SUN5_HUMAN sperm associated antigen 4-like 161 Potential. spermatogenesis skin(1) 1 TGGTTCATGCTACCTCGGAGG 0.478 NA 44 246 0 0 0 0 ZHX3 23051 broad.mit.edu 37 20 39832157 39832157 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr20:39832157G>A uc002xjs.1 - 3 1778 c.1400C>T c.(1399-1401)ACG>ATG p.T467M ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.T467M|ZHX3_uc002xjt.1_Missense_Mutation_p.T467M|ZHX3_uc002xju.1_Missense_Mutation_p.T467M|ZHX3_uc002xjv.1_Missense_Mutation_p.T467M|ZHX3_uc002xjw.1_Missense_Mutation_p.T467M|ZHX3_uc010ggg.1_Missense_Mutation_p.T467M NM_015035 NP_055850 Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 467 Required for homodimerization and interaction with NFYA.|Required for repressor activity. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Myeloproliferative disorder(115;0.00425) CACAGCTGACGTTGTATTTGA 0.542 NA 6 20 0 0 0 0 DIDO1 11083 broad.mit.edu 37 20 61512534 61512534 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr20:61512534C>T uc002ydr.1 - 16 5038 c.4774G>A c.(4774-4776)GAG>AAG p.E1592K DIDO1_uc002yds.1_Missense_Mutation_p.E1592K NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1592 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) GCATCTCTCTCGGGCAGGGCA 0.711 NA 13 15 0 0 0 0 PWP2 5822 broad.mit.edu 37 21 45535281 45535281 + Splice_Site SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr21:45535281G>A uc002zeb.2 + 6 696 c.606_splice c.e6+1 p.D202_splice NM_005049 NP_005040 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog cytoplasm|nucleolus signal transducer activity pancreas(1) 1 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) CAGCCTGGACGTATGTCCCTT 0.602 NA 28 84 0 0 0 0 C21orf58 54058 broad.mit.edu 37 21 47737166 47737166 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr21:47737166C>A uc002zjf.2 - 4 1460 c.326G>T c.(325-327)CGG>CTG p.R109L C21orf58_uc002ziz.2_Missense_Mutation_p.R26L|C21orf58_uc002zja.2_5'UTR|C21orf58_uc011afw.1_Missense_Mutation_p.R26L|C21orf58_uc002zjc.2_5'UTR|C21orf58_uc011afx.1_5'UTR|C21orf58_uc010gqj.1_RNA|C21orf58_uc002zjg.1_RNA NM_058180 NP_478060 P58505 CU058_HUMAN hypothetical protein LOC54058 109 pancreas(1) 1 Breast(49;0.112) Colorectal(79;0.239) CACGTTCTGCCGTTCTTGCTC 0.597 NA 10 9 0.000673444 0.000700932 1 0 EP300 2033 broad.mit.edu 37 22 41566521 41566521 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr22:41566521G>C uc003azl.3 + 27 4793 c.4398G>C c.(4396-4398)TGG>TGC p.W1466C NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1466 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 TGCAGGAATGGTACAAAAAAA 0.473 NA T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 30 50 0 0 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654890 46654890 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr22:46654890T>C uc003bhh.2 - 1 4330 c.4330A>G c.(4330-4332)ATA>GTA p.I1444V NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1444 Helical; (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AAAAAAGTTATTAATAATTGC 0.378 NA 17 55 0 0 0 0 SUMF1 285362 broad.mit.edu 37 3 4494724 4494724 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:4494724T>C uc003bpz.1 - 2 305 c.280A>G c.(280-282)ATC>GTC p.I94V SUMF1_uc003bps.1_RNA|SUMF1_uc011ass.1_Missense_Mutation_p.I94V|SUMF1_uc010hby.1_Missense_Mutation_p.I94V|SUMF1_uc011ast.1_Missense_Mutation_p.I94V NM_182760 NP_877437 Q8NBK3 SUMF1_HUMAN sulfatase modifying factor 1 isoform 1 94 endoplasmic reticulum lumen metal ion binding|oxidoreductase activity upper_aerodigestive_tract(1) 1 Melanoma(143;0.068)|Colorectal(144;0.233) Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549) CCAGCAGGGATGGGGACCATC 0.488 NA 5 11 0 0 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307562 39307562 + Missense_Mutation SNP C C T rs3732380 by1000genomes TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:39307562C>T uc003cjl.2 - 2 531 c.439G>A c.(439-441)GTC>ATC p.V147I NM_001337 NP_001328 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 147 Helical; Name=4; (Potential). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity lung(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) CTGATGGTGACGCCATGCTGC 0.527 NA 4 48 0 0 0 0 BSN 8927 broad.mit.edu 37 3 49689861 49689861 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:49689861C>T uc003cxe.3 + 5 2986 c.2872C>T c.(2872-2874)CGG>TGG p.R958W NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 958 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CAGTCTGGACCGGGAGCCTGA 0.622 NA 43 14 0 0 0 0 DNAH1 25981 broad.mit.edu 37 3 52383302 52383302 + Missense_Mutation SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:52383302C>G uc011bef.1 + 14 2653 c.2392C>G c.(2392-2394)CCC>GCC p.P798A DNAH1_uc003ddt.1_Missense_Mutation_p.P798A NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 798 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAGCTCGCTGCCCAGCAGCAT 0.592 NA 20 8 0 0 0 0 C3orf63 23272 broad.mit.edu 37 3 56667140 56667140 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:56667140C>T uc003did.3 - 17 3597 c.3496G>A c.(3496-3498)GTC>ATC p.V1166I C3orf63_uc003dib.3_Missense_Mutation_p.V285I|C3orf63_uc003dic.3_Missense_Mutation_p.V790I|C3orf63_uc003die.3_Missense_Mutation_p.V1227I NM_015224 NP_056039 Q9UK61 CC063_HUMAN retinoblastoma-associated protein 140 isoform b 1227 ovary(3)|kidney(1)|central_nervous_system(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147) TTTTTCTGGACGTCTTTCATG 0.328 NA 30 18 0 0 0 0 IMPG2 50939 broad.mit.edu 37 3 101038496 101038496 + Missense_Mutation SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:101038496A>T uc003duq.1 - 2 469 c.266T>A c.(265-267)GTG>GAG p.V89E IMPG2_uc011bhe.1_5'UTR NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 89 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 GCAGATTTTCACTCCATTAGG 0.433 NA 67 30 0 0 0 0 CBLB 868 broad.mit.edu 37 3 105456100 105456100 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:105456100T>C uc003dwc.2 - 8 1308 c.986A>G c.(985-987)TAT>TGT p.Y329C CBLB_uc011bhi.1_Missense_Mutation_p.Y351C|CBLB_uc003dwd.1_Missense_Mutation_p.Y329C|CBLB_uc003dwe.1_Missense_Mutation_p.Y329C|CBLB_uc011bhj.1_RNA NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 329 Cbl-PTB.|SH2-like. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 AGGATAAAGATAACTGAATTT 0.279 NA Mis S AML 25 15 0 0 0 0 PLCH1 23007 broad.mit.edu 37 3 155199373 155199373 + Missense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:155199373G>T uc011bok.1 - 23 4743 c.4466C>A c.(4465-4467)CCT>CAT p.P1489H PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.P1451H NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 1489 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GGATTTGCAAGGACTAGGCAG 0.468 NA 13 59 6.32e-08 7.07e-08 1 0 SLITRK3 22865 broad.mit.edu 37 3 164906141 164906141 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:164906141C>A uc003fej.3 - 2 2922 c.2478G>T c.(2476-2478)CAG>CAT p.Q826H SLITRK3_uc003fek.2_Missense_Mutation_p.Q826H NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 826 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 TGGTGTTAAGCTGGGAGCTGG 0.547 NA HNSCC(40;0.11) 39 73 6.03e-08 6.76e-08 1 0 SLITRK3 22865 broad.mit.edu 37 3 164906887 164906887 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:164906887C>T uc003fej.3 - 2 2176 c.1732G>A c.(1732-1734)GAA>AAA p.E578K SLITRK3_uc003fek.2_Missense_Mutation_p.E578K NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 578 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 CTGATGGTTTCGATCCACTGT 0.517 NA HNSCC(40;0.11) 6 69 0 0 0 0 MECOM 2122 broad.mit.edu 37 3 168838896 168838896 + Silent SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:168838896C>A uc003ffi.3 - 6 785 c.516G>T c.(514-516)TCG>TCT p.S172S MECOM_uc010hwk.1_Silent_p.S195S|MECOM_uc003ffj.3_Silent_p.S237S|MECOM_uc011bpi.1_Silent_p.S173S|MECOM_uc003ffn.3_Silent_p.S172S|MECOM_uc003ffk.2_Silent_p.S172S|MECOM_uc003ffl.2_Silent_p.S332S|MECOM_uc011bpj.1_Silent_p.S360S|MECOM_uc011bpk.1_Silent_p.S162S|MECOM_uc010hwn.2_Silent_p.S360S NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 172 C2H2-type 5.|Interaction with MAPK9, SMAD3 and probably SUV39H1. apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 TGAGGCCCGACGAAGTGGCAA 0.552 NA 19 39 5.04e-11 5.82e-11 1 0 GABRB1 2560 broad.mit.edu 37 4 47428009 47428009 + Missense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr4:47428009G>T uc003gxh.2 + 9 1773 c.1399G>T c.(1399-1401)GTC>TTC p.V467F GABRB1_uc011bze.1_Missense_Mutation_p.V397F NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 467 Helical; (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TTTTAATGTCGTCTATTGGCT 0.418 NA 46 27 8.05e-23 9.67e-23 1 0 PF4V1 5197 broad.mit.edu 37 4 74719102 74719102 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr4:74719102G>A uc003hhg.1 + 1 90 c.23G>A c.(22-24)CGC>CAC p.R8H NM_002620 NP_002611 P10720 PF4V_HUMAN platelet factor 4 variant 1 8 immune response extracellular region chemokine activity|heparin binding 0 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GCCAGGTCCCGCCTCACCCGC 0.652 NA 3 11 0 0 0 0 SCLT1 132320 broad.mit.edu 37 4 130014244 130014244 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr4:130014244G>C uc003igp.2 - 1 521 c.15C>G c.(13-15)ATC>ATG p.I5M C4orf33_uc010ioc.1_5'Flank|C4orf33_uc003igu.3_5'Flank|SCLT1_uc003igq.2_Missense_Mutation_p.I5M|SCLT1_uc010iob.1_Missense_Mutation_p.I5M|SCLT1_uc003igr.2_Missense_Mutation_p.I5M|SCLT1_uc003igs.2_Intron|SCLT1_uc003igt.3_Missense_Mutation_p.I5M NM_144643 NP_653244 Q96NL6 SCLT1_HUMAN sodium channel associated protein 1 5 centrosome ovary(3)|lung(1)|central_nervous_system(1) 5 TCAGAAAGTCGATTTCTGCAG 0.383 NA 29 15 0 0 0 0 SLC7A11 23657 broad.mit.edu 37 4 139103507 139103507 + Missense_Mutation SNP T T C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr4:139103507T>C uc011chb.1 - 9 1340 c.1060A>G c.(1060-1062)ATC>GTC p.I354V NM_014331 NP_055146 Q9UPY5 XCT_HUMAN solute carrier family 7, (cationic amino acid 354 Cytoplasmic (Potential). blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin integral to membrane|plasma membrane cystine:glutamate antiporter activity|protein binding skin(1) 1 all_hematologic(180;0.166) L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795) ATGGAGAGGATTTCTGGAAGG 0.393 NA 16 8 0 0 0 0 PRSS48 345062 broad.mit.edu 37 4 152212572 152212572 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr4:152212572G>C uc011cif.1 + 5 954 c.954G>C c.(952-954)GAG>GAC p.E318D PRSS48_uc011cig.1_Missense_Mutation_p.E175D NM_183375 NP_899231 Q7RTY5 PRS48_HUMAN epidermis-specific serine protease-like protein 318 proteolysis extracellular region serine-type endopeptidase activity large_intestine(1) 1 GCTGGGAAGAGAATGCATGGA 0.473 NA 16 6 0 0 0 0 FSTL5 56884 broad.mit.edu 37 4 162307172 162307172 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr4:162307172G>A uc003iqh.2 - 16 2707 c.2271C>T c.(2269-2271)TAC>TAT p.Y757Y FSTL5_uc003iqi.2_Silent_p.Y756Y|FSTL5_uc010iqv.2_Silent_p.Y747Y|uc010iqu.1_RNA NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 757 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TTGAACTACCGTAGATGTTAT 0.418 NA 4 69 0 0 0 0 FAT1 2195 broad.mit.edu 37 4 187524462 187524463 + Nonsense_Mutation DNP CC CC AA TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr4:187524462_187524463CC>AA uc003izf.2 - 19 11405_11406 c.11217_11218GG>TT c.(11215-11220)GCGGGA>GCTTGA p.G3740* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3740 Extracellular (Potential). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CAGTCCAGTCCCGCGCAGAGTT 0.465 NA HNSCC(5;0.00058) 17 8 0 0 0 0 TRIML2 205860 broad.mit.edu 37 4 189022227 189022227 + Missense_Mutation SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr4:189022227A>G uc003izl.2 - 3 349 c.313T>C c.(313-315)TTC>CTC p.F105L TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.F155L|TRIML2_uc011clf.1_Missense_Mutation_p.F155L NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 105 Potential. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) ATTTCCTGGAACATCTCCTCT 0.398 NA 11 15 0 0 0 0 CDH9 1007 broad.mit.edu 37 5 26885873 26885873 + Nonsense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr5:26885873G>A uc003jgs.1 - 11 1901 c.1732C>T c.(1732-1734)CAA>TAA p.Q578* CDH9_uc011cnv.1_Nonsense_Mutation_p.Q171* NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 578 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 GTGCTGCTTTGAATTGGATAA 0.458 NA 5 24 0 0 0 0 MAST4 375449 broad.mit.edu 37 5 66426148 66426148 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr5:66426148G>A uc003jut.1 + 14 1357 c.1289G>A c.(1288-1290)CGG>CAG p.R430Q MAST4_uc003juu.1_Missense_Mutation_p.R440Q|MAST4_uc011cra.1_Missense_Mutation_p.R413Q|MAST4_uc003juv.2_Missense_Mutation_p.R425Q|MAST4_uc003juw.2_Missense_Mutation_p.R425Q NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 622 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TTTGTGGAGCGGGATATCCTG 0.458 NA 20 19 0 0 0 0 RAD50 10111 broad.mit.edu 37 5 131915147 131915147 + Silent SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr5:131915147A>G uc003kxi.2 + 4 891 c.504A>G c.(502-504)GAA>GAG p.E168E RAD50_uc003kxg.1_Silent_p.E69E|RAD50_uc003kxh.2_Silent_p.E29E NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 168 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTTTAAGTGAAGGAAAGGCTT 0.348 NA Homologous_recombination 44 11 0 0 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215594 140215594 + Silent SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr5:140215594G>T uc003lhq.2 + 1 1626 c.1626G>T c.(1624-1626)GTG>GTT p.V542V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.V542V NM_018910 NP_061733 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 isoform 1 precursor 542 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCGGGCGTGCCGCCTCTGG 0.692 NA 51 67 8.72e-27 1.06e-26 1 0 PCDHB11 56125 broad.mit.edu 37 5 140580973 140580973 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr5:140580973C>T uc003liy.2 + 1 1626 c.1626C>T c.(1624-1626)AGC>AGT p.S542S PCDHB11_uc011daj.1_Silent_p.S177S NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 542 Extracellular (Potential).|Cadherin 5. 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) CGGCTTTGAGCAGCGAGGCGC 0.692 NA 31 21 0 0 0 0 FOXF2 2295 broad.mit.edu 37 6 1395022 1395022 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr6:1395022C>T uc003mtm.2 + 2 1377 c.1263C>T c.(1261-1263)CCC>CCT p.P421P FOXF2_uc003mtn.2_Intron NM_001452 NP_001443 Q12947 FOXF2_HUMAN forkhead box F2 421 epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding 0 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) CTTTCCATCCCTCAGCTAGCG 0.507 NA 25 45 0 0 0 0 CCHCR1 54535 broad.mit.edu 37 6 31113227 31113227 + Missense_Mutation SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr6:31113227C>G uc003nsr.3 - 12 1593 c.1470G>C c.(1468-1470)GAG>GAC p.E490D CCHCR1_uc011dne.1_Missense_Mutation_p.E490D|CCHCR1_uc003nsq.3_Missense_Mutation_p.E543D|CCHCR1_uc003nsp.3_Missense_Mutation_p.E579D|CCHCR1_uc010jsk.1_Missense_Mutation_p.E490D NM_019052 NP_061925 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 isoform 490 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding skin(1) 1 AACTTCACCTCTCCTGGCGCA 0.557 NA 6 31 0 0 0 0 FGD2 221472 broad.mit.edu 37 6 36993640 36993640 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr6:36993640C>T uc010jwp.1 + 14 1702 c.1531C>T c.(1531-1533)CTC>TTC p.L511F FGD2_uc003ong.2_Missense_Mutation_p.L233F|FGD2_uc011dtv.1_Missense_Mutation_p.L139F|FGD2_uc003onj.1_Missense_Mutation_p.L88F NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 511 FYVE-type. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding upper_aerodigestive_tract(1)|lung(1)|pancreas(1) 3 CCGAGTCTGCCTCCACTGCTA 0.622 NA 36 7 0 0 0 0 ZNF451 26036 broad.mit.edu 37 6 56997884 56997884 + Nonsense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr6:56997884C>T uc003pdm.1 + 6 693 c.469C>T c.(469-471)CGA>TGA p.R157* ZNF451_uc003pdl.2_Nonsense_Mutation_p.R157*|ZNF451_uc003pdn.1_Nonsense_Mutation_p.R157*|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Nonsense_Mutation_p.R157* NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 157 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) AAGTTCATTCCGAAGAGGAGG 0.393 NA 15 44 0 0 0 0 SH3BGRL2 83699 broad.mit.edu 37 6 80406206 80406206 + Missense_Mutation SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr6:80406206A>T uc003piz.1 + 3 415 c.236A>T c.(235-237)TAT>TTT p.Y79F NM_031469 NP_113657 Q9UJC5 SH3L2_HUMAN SH3 domain binding glutamic acid-rich protein 79 nucleus SH3 domain binding 0 all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174) BRCA - Breast invasive adenocarcinoma(397;0.0278) TTCTAGGATTATGACAGTTTT 0.308 NA 42 19 0 0 0 0 MCHR2 84539 broad.mit.edu 37 6 100382303 100382303 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr6:100382303C>A uc003pqh.1 - 5 993 c.678G>T c.(676-678)GAG>GAT p.E226D MCHR2_uc003pqi.1_Missense_Mutation_p.E226D NM_001040179 NP_001035269 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 226 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 8 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GTTGATACATCTCCCAAGTAT 0.303 NA 14 54 1.58e-08 1.79e-08 1 0 LAMA2 3908 broad.mit.edu 37 6 129637295 129637295 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr6:129637295G>A uc003qbn.2 + 27 4142 c.4037G>A c.(4036-4038)GGA>GAA p.G1346E LAMA2_uc003qbo.2_Missense_Mutation_p.G1346E NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1346 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GCTACTTATGGAAATTTCATG 0.343 NA 14 15 0 0 0 0 TMEM184A 202915 broad.mit.edu 37 7 1590490 1590490 + Nonsense_Mutation SNP G G T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:1590490G>T uc003skv.3 - 3 665 c.348C>A c.(346-348)TAC>TAA p.Y116* TMEM184A_uc003skt.3_5'UTR|TMEM184A_uc003skw.3_5'UTR NM_001097620 NP_001091089 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 116 integral to membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) AGTAGACGTAGTACTGGTGGT 0.642 NA 33 20 7.64e-26 9.22e-26 1 0 GLCCI1 113263 broad.mit.edu 37 7 8126118 8126118 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:8126118G>A uc003srk.2 + 8 2153 c.1594G>A c.(1594-1596)GAA>AAA p.E532K NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 532 0 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) GCTCCTGCAGGAACTGCAGGG 0.547 NA 49 152 0 0 0 0 MPP6 51678 broad.mit.edu 37 7 24705286 24705286 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:24705286G>A uc003swx.2 + 8 1162 c.863G>A c.(862-864)AGA>AAA p.R288K MPP6_uc003swy.2_Missense_Mutation_p.R288K|MPP6_uc010kur.2_5'Flank NM_016447 NP_057531 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 288 protein complex assembly protein binding 0 GCATTTGTTAGAAGAGACTGG 0.413 NA 23 17 0 0 0 0 GPR141 353345 broad.mit.edu 37 7 37780320 37780320 + Missense_Mutation SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:37780320A>G uc003tfm.1 + 1 325 c.325A>G c.(325-327)ATC>GTC p.I109V uc003tfl.2_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN G protein-coupled receptor 141 109 Helical; Name=3; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 CTATGTGGTGATCCTGGTCAC 0.483 NA 17 58 0 0 0 0 MAGI2 9863 broad.mit.edu 37 7 78636417 78636417 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:78636417C>T uc003ugx.2 - 2 661 c.407G>A c.(406-408)CGC>CAC p.R136H MAGI2_uc003ugy.2_Missense_Mutation_p.R136H NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 136 Guanylate kinase-like. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGGCACCGTGCGGAGGTAGAG 0.373 NA 63 41 0 0 0 0 CCDC132 55610 broad.mit.edu 37 7 92979233 92979234 + Missense_Mutation DNP TA TA GT TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:92979233_92979234TA>GT uc003umo.2 + 25 2479_2480 c.2351_2352TA>GT c.(2350-2352)GTA>GGT p.V784G CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.V754G|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.V504G NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 784 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) TACTGGATTGTAGCTGGTAAAG 0.342 NA 16 88 0 0 0 0 ASB4 51666 broad.mit.edu 37 7 95157520 95157520 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:95157520G>C uc011kij.1 + 3 883 c.883G>C c.(883-885)GTC>CTC p.V295L ASB4_uc003unx.2_Missense_Mutation_p.V295L NM_016116 NP_057200 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box-containing protein 4 295 intracellular signal transduction central_nervous_system(1) 1 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) CGTGCTGAAGGTCACCTCCGT 0.572 NA OREG0018172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 51 0 0 0 0 TMEM130 222865 broad.mit.edu 37 7 98446238 98446238 + Silent SNP G G T rs142570247 TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:98446238G>T uc003upo.2 - 7 1276 c.1087C>A c.(1087-1089)CGG>AGG p.R363R TMEM130_uc011kiq.1_Silent_p.R344R|TMEM130_uc011kir.1_Silent_p.R363R|TMEM130_uc003upn.2_Silent_p.R261R NM_001134450 NP_001127922 Q8N3G9 TM130_HUMAN transmembrane protein 130 isoform a 363 Cytoplasmic (Potential). Golgi membrane|integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GTGGCATTCCGCAGGGTCATG 0.517 NA 55 29 8.89e-47 1.09e-46 1 0 CYP3A5 1577 broad.mit.edu 37 7 99258197 99258197 + Silent SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:99258197A>G uc003urq.2 - 10 1038 c.951T>C c.(949-951)ACT>ACC p.T317T ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_Silent_p.T137T|CYP3A5_uc003urr.2_Silent_p.T204T|CYP3A5_uc011kiy.1_Silent_p.T307T|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron NM_000777 NP_000768 P20815 CP3A5_HUMAN cytochrome P450, family 3, subfamily A, 317 alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541) GTTCATATAAAGTGAAGGAAA 0.473 NA 17 105 0 0 0 0 GIGYF1 64599 broad.mit.edu 37 7 100285665 100285665 + Missense_Mutation SNP T T G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:100285665T>G uc003uwg.1 - 2 1113 c.104A>C c.(103-105)AAG>ACG p.K35T NM_022574 NP_072096 O75420 PERQ1_HUMAN PERQ amino acid rich, with GYF domain 1 35 large_intestine(1)|central_nervous_system(1) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GTCAGCCAGCTTGTATTTGGG 0.642 NA 26 95 0 0 0 0 PIK3CG 5294 broad.mit.edu 37 7 106523581 106523581 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:106523581C>T uc003vdv.3 + 8 2818 c.2733C>T c.(2731-2733)CTC>CTT p.L911L PIK3CG_uc003vdu.2_Silent_p.L911L|PIK3CG_uc003vdw.2_Silent_p.L911L NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 911 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 ATCACTGGCTCAAAGAAAAAT 0.428 NA 5 153 0 0 0 0 THAP5 168451 broad.mit.edu 37 7 108205290 108205290 + Missense_Mutation SNP G G C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:108205290G>C uc003vfm.2 - 3 687 c.533C>G c.(532-534)TCT>TGT p.S178C THAP5_uc003vfl.2_Missense_Mutation_p.S136C NM_001130475 NP_001123947 Q7Z6K1 THAP5_HUMAN THAP domain containing 5 isoform 1 178 cell cycle|negative regulation of cell cycle nucleus DNA binding|metal ion binding|protease binding 0 TTCCAAGGTAGATTCTGGTTT 0.348 NA 6 24 0 0 0 0 SLC13A1 6561 broad.mit.edu 37 7 122808429 122808429 + Missense_Mutation SNP T T A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:122808429T>A uc003vkm.2 - 6 684 c.659A>T c.(658-660)AAG>ATG p.K220M SLC13A1_uc010lks.2_Translation_Start_Site NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 220 integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) TTTATGTACCTTTTCCAACTC 0.254 NA 11 9 0 0 0 0 MGAM 8972 broad.mit.edu 37 7 141734603 141734603 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:141734603C>A uc003vwy.2 + 16 1975 c.1921C>A c.(1921-1923)CCT>ACT p.P641T NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 641 Lumenal (Potential).|Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATGGTCCATCCCTGGCGTGCT 0.507 NA 23 24 3.29e-13 3.84e-13 1 0 UBXN2B 137886 broad.mit.edu 37 8 59352288 59352288 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr8:59352288G>A uc003xtl.2 + 6 752 c.630G>A c.(628-630)TTG>TTA p.L210L NM_001077619 NP_001071087 Q14CS0 UBX2B_HUMAN UBX domain protein 2B 210 cytosol|endoplasmic reticulum|Golgi apparatus|nucleus ovary(2) 2 AACCTAGATTGAGGTTCAAGG 0.378 NA 6 65 0 0 0 0 CSPP1 79848 broad.mit.edu 37 8 68076024 68076024 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr8:68076024C>T uc003xxi.2 + 23 2822 c.2791C>T c.(2791-2793)CGT>TGT p.R931C CSPP1_uc003xxj.2_Missense_Mutation_p.R896C|CSPP1_uc003xxk.2_Missense_Mutation_p.R551C|CSPP1_uc010lyw.2_5'Flank NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 931 Potential. centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AAATCAGCTCCGTGCAGAAGG 0.338 NA 11 27 0 0 0 0 GDAP1 54332 broad.mit.edu 37 8 75276509 75276509 + Silent SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr8:75276509G>A uc003yah.2 + 6 1063 c.984G>A c.(982-984)TTG>TTA p.L328L GDAP1_uc011lfj.1_Silent_p.L213L|GDAP1_uc003yai.2_Silent_p.L260L NM_018972 NP_061845 Q8TB36 GDAP1_HUMAN ganglioside-induced differentiation-associated 328 cytoplasm 0 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) TGGTTGGTTTGCTTGCAGGAG 0.433 NA 21 46 0 0 0 0 ZNF572 137209 broad.mit.edu 37 8 125990080 125990080 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr8:125990080G>A uc003yrr.2 + 3 1725 c.1570G>A c.(1570-1572)GTC>ATC p.V524I NM_152412 NP_689625 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 524 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TTCATTTTCCGTCTCAAATTC 0.428 NA HNSCC(60;0.17) 39 49 0 0 0 0 TSTA3 7264 broad.mit.edu 37 8 144697068 144697068 + Missense_Mutation SNP C C A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr8:144697068C>A uc003yza.2 - 4 315 c.279G>T c.(277-279)ATG>ATT p.M93I TSTA3_uc003yzb.2_Missense_Mutation_p.M93I|TSTA3_uc011lko.1_Missense_Mutation_p.M93I NM_003313 NP_003304 Q13630 FCL_HUMAN tissue specific transplantation antigen P35B 93 '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) CGTTGTCGTTCATGTGCACGT 0.607 NA 21 62 5.45e-15 6.43e-15 1 0 ZNF707 286075 broad.mit.edu 37 8 144776666 144776666 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr8:144776666G>A uc003yze.3 + 7 1397 c.1082G>A c.(1081-1083)CGG>CAG p.R361Q ZNF707_uc010mfh.2_Missense_Mutation_p.R361Q|ZNF707_uc010mfi.2_Missense_Mutation_p.R361Q|ZNF707_uc003yzf.3_Missense_Mutation_p.R361Q|ZNF707_uc003yzh.3_Missense_Mutation_p.R288Q|ZNF707_uc011lkq.1_RNA|BREA2_uc010mfj.1_5'Flank NM_173831 NP_776192 Q96C28 ZN707_HUMAN zinc finger protein 707 361 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(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;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TTCTTCACGCGGCATCAGAGG 0.647 NA 25 16 0 0 0 0 HAUS6 54801 broad.mit.edu 37 9 19063008 19063008 + Missense_Mutation SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr9:19063008C>G uc003znk.2 - 14 1880 c.1627G>C c.(1627-1629)GAG>CAG p.E543Q HAUS6_uc011lmz.1_Missense_Mutation_p.E263Q|HAUS6_uc003znl.1_Missense_Mutation_p.E407Q|HAUS6_uc003znm.1_Missense_Mutation_p.E298Q NM_017645 NP_060115 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 543 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle p.E543K(1) ovary(2) 2 TTTCTCACCTCTTCTACCAGA 0.264 NA 43 138 0 0 0 0 HAUS6 54801 broad.mit.edu 37 9 19063029 19063029 + Missense_Mutation SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr9:19063029C>G uc003znk.2 - 14 1859 c.1606G>C c.(1606-1608)GAG>CAG p.E536Q HAUS6_uc011lmz.1_Missense_Mutation_p.E256Q|HAUS6_uc003znl.1_Missense_Mutation_p.E400Q|HAUS6_uc003znm.1_Missense_Mutation_p.E291Q NM_017645 NP_060115 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 536 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle ovary(2) 2 TGATCTTGCTCTTTTTGAAAT 0.299 NA 57 159 0 0 0 0 HAUS6 54801 broad.mit.edu 37 9 19063104 19063104 + Missense_Mutation SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr9:19063104C>T uc003znk.2 - 14 1784 c.1531G>A c.(1531-1533)GAT>AAT p.D511N HAUS6_uc011lmz.1_Missense_Mutation_p.D231N|HAUS6_uc003znl.1_Missense_Mutation_p.D375N|HAUS6_uc003znm.1_Missense_Mutation_p.D266N NM_017645 NP_060115 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 511 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle ovary(2) 2 TTTGCAACATCTGATAATGGA 0.368 NA 60 114 0 0 0 0 UBAP2 55833 broad.mit.edu 37 9 33943473 33943473 + Missense_Mutation SNP G G T rs147087482 TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr9:33943473G>T uc003ztq.1 - 15 1773 c.1660C>A c.(1660-1662)CCA>ACA p.P554T UBAP2_uc011loc.1_Missense_Mutation_p.P463T|UBAP2_uc011lod.1_Missense_Mutation_p.P287T|UBAP2_uc011loe.1_Missense_Mutation_p.P309T|UBAP2_uc011lof.1_Missense_Mutation_p.P479T|UBAP2_uc011log.1_Missense_Mutation_p.P500T|UBAP2_uc003ztr.2_Missense_Mutation_p.P426T|UBAP2_uc003zts.2_Missense_Mutation_p.P187T NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 554 ovary(3) 3 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) TCACTGCTTGGAGCTGATCCA 0.408 NA 17 67 3.71e-20 4.43e-20 1 0 PAX5 5079 broad.mit.edu 37 9 37020768 37020768 + Missense_Mutation SNP A A C TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr9:37020768A>C uc003zzo.1 - 2 525 c.77T>G c.(76-78)GTT>GGT p.V26G PAX5_uc011lpw.1_Missense_Mutation_p.V26G|PAX5_uc011lpx.1_Missense_Mutation_p.V26G|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Missense_Mutation_p.V26G|PAX5_uc011lpz.1_Missense_Mutation_p.V26G|PAX5_uc011lqa.1_Intron|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.V26G|PAX5_uc010mlp.1_Missense_Mutation_p.V26G|PAX5_uc011lqc.1_Missense_Mutation_p.V26G|PAX5_uc010mlr.1_Missense_Mutation_p.V26G|PAX5_uc011lqd.1_Missense_Mutation_p.V25G|PAX5_uc011lqe.1_Intron|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Intron NM_016734 NP_057953 Q02548 PAX5_HUMAN paired box 5 26 Paired. cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(31)|p.V26G(3)|p.V26fs*49(1) PAX5/JAK2(18) haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2) 147 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) ATTCACAAAAACCCCCCCAAG 0.527 NA T|Mis|D|F|S IGH@|ETV6|PML|FOXP1|ZNF521|ELN NHL|ALL|B-ALL 9 73 0 0 0 0 TRPM3 80036 broad.mit.edu 37 9 73164503 73164503 + Missense_Mutation SNP C C A rs139956868 by1000genomes TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr9:73164503C>A uc004aid.2 - 24 3870 c.3626G>T c.(3625-3627)CGG>CTG p.R1209L TRPM3_uc004ahu.2_Missense_Mutation_p.R1051L|TRPM3_uc004ahv.2_Missense_Mutation_p.R1011L|TRPM3_uc004ahw.2_Missense_Mutation_p.R1081L|TRPM3_uc004ahx.2_Missense_Mutation_p.R1068L|TRPM3_uc004ahy.2_Missense_Mutation_p.R1071L|TRPM3_uc004ahz.2_Missense_Mutation_p.R1058L|TRPM3_uc004aia.2_Missense_Mutation_p.R1056L|TRPM3_uc004aib.2_Missense_Mutation_p.R1046L|TRPM3_uc004aic.2_Missense_Mutation_p.R1209L NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1234 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 TGAGTTGAACCGATCATCCTT 0.423 NA 30 27 2.61e-14 3.07e-14 1 0 OR1N2 138882 broad.mit.edu 37 9 125316085 125316085 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr9:125316085G>A uc011lyx.1 + 1 637 c.637G>A c.(637-639)GAG>AAG p.E213K NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, 213 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 CCATGTAAACGAGCTGATGAT 0.517 NA 92 61 0 0 0 0 PDCL 5082 broad.mit.edu 37 9 125585430 125585430 + Missense_Mutation SNP C C G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr9:125585430C>G uc004bmz.1 - 3 315 c.219G>C c.(217-219)GAG>GAC p.E73D PDCL_uc004bna.2_Missense_Mutation_p.E73D NM_005388 NP_005379 Q13371 PHLP_HUMAN phosducin-like 73 signal transduction|visual perception 0 TCTGCTCTGTCTCCAACTGCT 0.537 NA 29 124 0 0 0 0 GAPVD1 26130 broad.mit.edu 37 9 128092450 128092450 + Missense_Mutation SNP A A G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr9:128092450A>G uc010mwx.2 + 13 2452 c.2126A>G c.(2125-2127)GAG>GGG p.E709G GAPVD1_uc011lzs.1_Missense_Mutation_p.E709G|GAPVD1_uc004bpp.2_Missense_Mutation_p.E709G|GAPVD1_uc004bpq.2_Missense_Mutation_p.E709G|GAPVD1_uc004bpr.2_Missense_Mutation_p.E688G|GAPVD1_uc004bps.2_Missense_Mutation_p.E709G|GAPVD1_uc010mwy.1_Missense_Mutation_p.E568G NM_015635 NP_056450 Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 709 endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 ACCATATCAGAGACAACAAGT 0.433 NA 32 98 0 0 0 0 KIAA0649 9858 broad.mit.edu 37 9 138376561 138376561 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr9:138376561G>A uc004cfr.1 + 4 754 c.205G>A c.(205-207)GCA>ACA p.A69T NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 69 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) TGAGCGCGCCGCACAGAGGGG 0.706 NA 50 48 0 0 0 0 CCNB3 85417 broad.mit.edu 37 X 50051787 50051787 + Missense_Mutation SNP T T A rs147712690 byFrequency TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chrX:50051787T>A uc004dox.3 + 6 916 c.618T>A c.(616-618)TTT>TTA p.F206L CCNB3_uc004doy.2_Missense_Mutation_p.F206L|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 206 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) ATGATGCGTTTGTTATAGAGC 0.413 NA 36 4 0 0 0 0 NXF5 55998 broad.mit.edu 37 X 101092763 101092763 + Nonsense_Mutation SNP T T A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chrX:101092763T>A uc011mrk.1 - 14 1270 c.910A>T c.(910-912)AAA>TAA p.K304* NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 304 NTF2; truncated. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 CAGGGGTCTTTGAGAATTTTT 0.507 NA 94 23 0 0 0 0 ZMAT1 84460 broad.mit.edu 37 X 101139651 101139651 + Missense_Mutation SNP A A T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chrX:101139651A>T uc004eim.2 - 2 3733 c.235T>A c.(235-237)TTG>ATG p.L79M ZMAT1_uc011mrl.1_Missense_Mutation_p.L250M|ZMAT1_uc004ein.2_Missense_Mutation_p.L79M|ZMAT1_uc011mrm.1_Missense_Mutation_p.L79M NM_032441 NP_115817 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 3 79 nucleus zinc ion binding ovary(1) 1 CGGGTTTCCAAAGAACTCTCT 0.443 NA 39 53 0 0 0 0 COL4A5 1287 broad.mit.edu 37 X 107865911 107865911 + Missense_Mutation SNP G G A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chrX:107865911G>A uc004enz.1 + 33 2975 c.2773G>A c.(2773-2775)GAT>AAT p.D925N COL4A5_uc011mso.1_Missense_Mutation_p.D925N|COL4A5_uc004eob.1_Missense_Mutation_p.D533N NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 925 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 TTTAGGTGATGATGGCTTGCA 0.413 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 19 40 0 0 0 0 MTCP1 4515 broad.mit.edu 37 X 154294265 154294265 + Silent SNP C C T TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chrX:154294265C>T uc004fmz.2 - 2 647 c.21G>A c.(19-21)GGG>GGA p.G7G MTCP1NB_uc004fmy.2_Intron NM_001018025 NP_001018025 P56278 MTCP1_HUMAN mature T-cell proliferation 1 7 cell proliferation lung(1) 1 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CGGGTGGAGCCCCCACATCCT 0.572 NA T TRA@ T cell prolymphocytic leukemia 11 16 0 0 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202920154 202920155 + Frame_Shift_Ins INS - - G TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr1:202920154_202920155insG uc001gyq.3 - 2 311_312 c.44_45insC c.(43-45)GCTfs p.A15fs ADIPOR1_uc010pqd.1_5'Flank|ADIPOR1_uc001gyr.3_5'UTR|ADIPOR1_uc001gys.3_Frame_Shift_Ins_p.A15fs NM_015999 NP_057083 Q96A54 ADR1_HUMAN adiponectin receptor 1 15 Cytoplasmic (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity 0 BRCA - Breast invasive adenocarcinoma(75;0.141) TACTGGCAGGAGCCCCATTCCC 0.559 NA 10 121 --- --- --- --- NA NA NA NA ARAP1 116985 broad.mit.edu 37 11 72425238 72425238 + Frame_Shift_Del DEL G G - TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr11:72425238delG uc001osu.2 - 4 827 c.638delC c.(637-639)CCGfs p.P213fs ARAP1_uc001osv.2_Frame_Shift_Del_p.P213fs|ARAP1_uc001osr.2_5'Flank|ARAP1_uc001oss.2_5'UTR|ARAP1_uc009yth.2_5'UTR|ARAP1_uc010rre.1_5'UTR NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 213 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 AGGTATCTCCGGGGGGCAGGG 0.652 NA 2 4 --- --- --- --- NA NA NA NA ABCC9 10060 broad.mit.edu 37 12 22061049 22061054 + In_Frame_Del DEL TAAAGT TAAAGT - TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:22061049_22061054delTAAAGT uc001rfi.1 - 9 1432_1437 c.1412_1417delACTTTA c.(1411-1419)TACTTTATT>TTT p.471_473YFI>F ABCC9_uc001rfh.2_In_Frame_Del_p.471_473YFI>F|ABCC9_uc001rfj.1_In_Frame_Del_p.471_473YFI>F NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 471_473 ABC transmembrane type-1 1.|Helical; Name=9; (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTTGTAGCAATAAAGTACTGAATTGG 0.364 NA 12 26 --- --- --- --- NA NA NA NA MLL2 8085 broad.mit.edu 37 12 49447085 49447086 + Frame_Shift_Ins INS - - AC TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr12:49447085_49447086insAC uc001rta.3 - 7 858_859 c.858_859insGT c.(856-861)TCTAAGfs p.S286fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 286_287 PHD-type 2.|RING-type 2; degenerate.|Cys-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 ACCAACATCTTAGAGTCATTCC 0.455 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 46 90 --- --- --- --- NA NA NA NA ISLR2 57611 broad.mit.edu 37 15 74425155 74425155 + Frame_Shift_Del DEL C C - TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr15:74425155delC uc002axd.2 + 4 829 c.60delC c.(58-60)TGCfs p.C20fs ISLR2_uc002axe.2_Frame_Shift_Del_p.C20fs|ISLR2_uc010bjg.2_Frame_Shift_Del_p.C20fs|ISLR2_uc010bjf.2_Frame_Shift_Del_p.C20fs NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 20 Extracellular (Potential).|LRRNT. positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 CCGGATCATGCCCGGAGCCGT 0.617 NA 18 49 --- --- --- --- NA NA NA NA SP100 6672 broad.mit.edu 37 2 231379989 231379990 + Frame_Shift_Ins INS - - A TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr2:231379989_231379990insA uc002vqt.2 + 25 2415_2416 c.2274_2275insA c.(2272-2277)GAGAAAfs p.E758fs SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron NM_003113 NP_003104 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 2 758_759 Poly-Lys. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CTAAAGGGGAGAAAAAAAAGAA 0.421 NA 19 26 --- --- --- --- NA NA NA NA PLSCR1 5359 broad.mit.edu 37 3 146246596 146246597 + Frame_Shift_Ins INS - - T rs138630543 by1000genomes TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr3:146246596_146246597insT uc003evx.3 - 4 504_505 c.116_117insA c.(115-117)TACfs p.Y39fs PLSCR1_uc003evy.3_Frame_Shift_Ins_p.Y32fs|PLSCR1_uc011bnn.1_Intron|PLSCR1_uc003evz.3_Intron|PLSCR1_uc003ewa.2_Frame_Shift_Ins_p.Y39fs NM_021105 NP_066928 O15162 PLS1_HUMAN phospholipid scramblase 1 39 Cytoplasmic. phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding ovary(2) 2 GGGGCCCAGGGTAGCCACTATA 0.5 NA 11 65 --- --- --- --- NA NA NA NA ZNF775 285971 broad.mit.edu 37 7 150095175 150095176 + Frame_Shift_Del DEL GC GC - TCGA-CV-5434-01A-01D-1683-08 TCGA-CV-5434-10A-01D-1870-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 69ef7b45-cd0e-4d59-a0ee-35a8c830120c adb3715b-8a29-42d5-8490-8a55d24b4360 g.chr7:150095175_150095176delGC uc003whf.1 + 3 1731_1732 c.1606_1607delGC c.(1606-1608)GCGfs p.A536fs LOC728743_uc003whg.2_5'Flank NM_173680 NP_775951 Q96BV0 ZN775_HUMAN zinc finger protein 775 536 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.0173) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAAGGAGGAGGCGCGCTAGTGG 0.693 NA 7 8 --- --- --- --- NA NA NA NA