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 ZNF642 339559 broad.mit.edu 37 1 40954867 40954867 + Silent SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:40954867C>T uc001cfo.2 + 4 621 c.327C>T c.(325-327)TAC>TAT p.Y109Y ZNF642_uc009vwb.2_Silent_p.Y109Y|ZNF642_uc010ojk.1_Silent_p.Y109Y NM_198494 NP_940896 Q49AA0 ZN642_HUMAN zinc finger protein 642 109 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.81e-19) TGGAGAACTACAGCAACTTGG 0.458000 RNF220 55182 broad.mit.edu 37 1 44878012 44878012 + Silent SNP C C A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:44878012C>A uc001clv.1 + 2 603 c.243C>A c.(241-243)GGC>GGA p.G81G RNF220_uc001clw.1_Silent_p.G81G NM_018150 NP_060620 Q5VTB9 RN220_HUMAN ring finger protein 220 81 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 GGGTGCCAGGCACTTTTGCCA 0.488000 ELAVL4 1996 broad.mit.edu 37 1 50666792 50666792 + Missense_Mutation SNP G G A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:50666792G>A uc001csb.2 + 7 1353 c.1085G>A c.(1084-1086)CGC>CAC p.R362H ELAVL4_uc001cry.3_Missense_Mutation_p.R351H|ELAVL4_uc001crz.3_Missense_Mutation_p.R348H|ELAVL4_uc001csa.3_Missense_Mutation_p.R365H|ELAVL4_uc001csc.3_Missense_Mutation_p.R348H|ELAVL4_uc010omz.1_Missense_Mutation_p.R353H NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 362 RRM 3. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding p.R362H(1) ovary(1)|pancreas(1) 2 AACGGGTACCGCCTGGGAGAC 0.443000 WLS 79971 broad.mit.edu 37 1 68615882 68615882 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:68615882C>T uc001def.1 - 6 1232 c.961G>A c.(961-963)GAG>AAG p.E321K uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Missense_Mutation_p.E319K|WLS_uc001deg.1_Missense_Mutation_p.E230K|WLS_uc009wbf.1_Missense_Mutation_p.E276K NM_024911 NP_079187 Q5T9L3 WLS_HUMAN G protein-coupled receptor 177 isoform 1 321 Helical; Name=3; (Potential). multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi membrane|integral to membrane signal transducer activity 0 ATCATGTGCTCGCCACAGAAG 0.567000 GBP5 115362 broad.mit.edu 37 1 89728058 89728058 + Missense_Mutation SNP T T C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:89728058T>C uc001dnc.2 - 11 2029 c.1492A>G c.(1492-1494)AAG>GAG p.K498E GBP5_uc001dnd.2_Missense_Mutation_p.K498E NM_052942 NP_443174 Q96PP8 GBP5_HUMAN guanylate-binding protein 5 498 plasma membrane GTP binding|GTPase activity ovary(1) 1 all cancers(265;0.00784)|Epithelial(280;0.0286) GCTTCAGCCTTTTCAGCTTCT 0.463000 TCHH 7062 broad.mit.edu 37 1 152085471 152085471 + Missense_Mutation SNP G G T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:152085471G>T uc001ezp.2 - 2 222 c.222C>A c.(220-222)TTC>TTA p.F74L TCHH_uc009wne.1_Missense_Mutation_p.F74L NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 74 EF-hand 2.|S-100-like. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TAAATAGGAGGAATTCGTTGA 0.478000 FLG 2312 broad.mit.edu 37 1 152280891 152280891 + Silent SNP C C T rs141369067 byFrequency TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:152280891C>T uc001ezu.1 - 3 6507 c.6471G>A c.(6469-6471)TCG>TCA p.S2157S NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2157 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACCTATCTACCGATTGCTCTT 0.592000 Ichthyosis KPRP 448834 broad.mit.edu 37 1 152732601 152732601 + Silent SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:152732601C>T uc001fal.1 + 2 595 c.537C>T c.(535-537)TCC>TCT p.S179S NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 179 Gln-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GAAGATTCTCCACCCAGTGCC 0.552000 COPA 1314 broad.mit.edu 37 1 160262393 160262393 + Silent SNP T T C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:160262393T>C uc009wti.2 - 28 3235 c.2841A>G c.(2839-2841)GTA>GTG p.V947V COPA_uc001fvv.3_Silent_p.V956V NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform 947 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity ovary(1)|skin(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGATTACCCCTACTTGGTCAT 0.368000 HMCN1 83872 broad.mit.edu 37 1 186123065 186123065 + Missense_Mutation SNP T T C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:186123065T>C uc001grq.1 + 97 15431 c.15202T>C c.(15202-15204)TAT>CAT p.Y5068H HMCN1_uc001grs.1_Missense_Mutation_p.Y637H NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 5068 Nidogen G2 beta-barrel. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GGAATCTGACTATAACCAGAT 0.383000 CFHR2 3080 broad.mit.edu 37 1 196928061 196928061 + Nonsense_Mutation SNP A A T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:196928061A>T uc001gtq.1 + 5 741 c.664A>T c.(664-666)AAG>TAG p.K222* CFHR2_uc001gtr.1_Nonsense_Mutation_p.K98* NM_005666 NP_005657 P36980 FHR2_HUMAN H factor (complement)-like 3 precursor 222 Sushi 4. extracellular region skin(2)|ovary(1) 3 CATAAAATTAAAGTGGACAAA 0.279000 CRB1 23418 broad.mit.edu 37 1 197313456 197313456 + Missense_Mutation SNP G G T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:197313456G>T uc001gtz.2 + 3 833 c.698G>T c.(697-699)TGT>TTT p.C233F CRB1_uc010poz.1_Missense_Mutation_p.C164F|CRB1_uc001gty.1_Missense_Mutation_p.C233F|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Intron|CRB1_uc010ppb.1_Missense_Mutation_p.C233F|CRB1_uc010ppc.1_RNA NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 233 EGF-like 6; calcium-binding (Potential).|Extracellular (Potential). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 TCCCAGCCTTGTTTAAATGGT 0.428000 PIK3C2B 5287 broad.mit.edu 37 1 204412703 204412703 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:204412703C>T uc001haw.2 - 20 3369 c.2890G>A c.(2890-2892)GAC>AAC p.D964N PIK3C2B_uc010pqv.1_Missense_Mutation_p.D936N NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 964 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) AACTGAGAGTCCTTGAGGCCG 0.577000 RBBP5 5929 broad.mit.edu 37 1 205066019 205066019 + Nonsense_Mutation SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:205066019G>C uc001hbu.1 - 12 1317 c.1187C>G c.(1186-1188)TCA>TGA p.S396* RBBP5_uc010prd.1_Nonsense_Mutation_p.S431*|RBBP5_uc001hbv.1_Nonsense_Mutation_p.S396*|RBBP5_uc010pre.1_Nonsense_Mutation_p.S263* NM_005057 NP_005048 Q15291 RBBP5_HUMAN retinoblastoma binding protein 5 396 histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding lung(1) 1 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) TAGAGCCTTTGAATCTTCCAG 0.468000 HLX 3142 broad.mit.edu 37 1 221054609 221054609 + Missense_Mutation SNP G G T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:221054609G>T uc001hmv.3 + 2 1123 c.666G>T c.(664-666)CAG>CAT p.Q222H NM_021958 NP_068777 Q14774 HLX_HUMAN H2.0-like homeobox 222 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 GBM - Glioblastoma multiforme(131;0.00914) CGGCCGGCCAGTTCTTCGCAT 0.567000 DUSP10 11221 broad.mit.edu 37 1 221879731 221879731 + Missense_Mutation SNP C C A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:221879731C>A uc001hmy.1 - 3 1071 c.889G>T c.(889-891)GGG>TGG p.G297W DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR NM_007207 NP_009138 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 isoform a 297 inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|lung(1) 2 GBM - Glioblastoma multiforme(131;0.0103) GCGCCGCCCCCCACCTCCCGG 0.577000 DISP1 84976 broad.mit.edu 37 1 223176630 223176630 + Nonsense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:223176630C>T uc001hnu.1 + 8 2038 c.1891C>T c.(1891-1893)CGA>TGA p.R631* NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 631 SSD. diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) TACAGCAATCCGATGCTTTGG 0.473000 ITPKB 3707 broad.mit.edu 37 1 226924068 226924068 + Silent SNP G G A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:226924068G>A uc010pvo.1 - 2 1432 c.1092C>T c.(1090-1092)CGC>CGT p.R364R ITPKB_uc001hqh.2_Silent_p.R364R NM_002221 NP_002212 P27987 IP3KB_HUMAN 1D-myo-inositol-trisphosphate 3-kinase B 364 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity ovary(4)|central_nervous_system(1) 5 Prostate(94;0.0773) GTTCTCCATCGCGGGGCCCGC 0.652000 TTC13 79573 broad.mit.edu 37 1 231047269 231047269 + Missense_Mutation SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:231047269G>C uc001huf.3 - 20 2287 c.2256C>G c.(2254-2256)ATC>ATG p.I752M TTC13_uc009xfi.2_Missense_Mutation_p.I699M|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.I698M|TTC13_uc009xfk.1_Missense_Mutation_p.I641M NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 isoform a 752 binding ovary(1)|skin(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) CTAAGGATAAGATTAAGTTGC 0.294000 RYR2 6262 broad.mit.edu 37 1 237666797 237666797 + Missense_Mutation SNP A A G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:237666797A>G uc001hyl.1 + 22 2725 c.2605A>G c.(2605-2607)ACC>GCC p.T869A NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 869 Cytoplasmic (By similarity).|1.|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCCTGTGGATACCAGCCAGGT 0.428000 RYR2 6262 broad.mit.edu 37 1 237947675 237947675 + Silent SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:237947675C>T uc001hyl.1 + 90 12783 c.12663C>T c.(12661-12663)AGC>AGT p.S4221S RYR2_uc010pya.1_Silent_p.S636S NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4221 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGGAAGAAAGCGAGAAGGAGA 0.542000 OR13G1 441933 broad.mit.edu 37 1 247835974 247835974 + Missense_Mutation SNP A A T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:247835974A>T uc001idi.1 - 1 370 c.370T>A c.(370-372)TGT>AGT p.C124S NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 124 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AGAGGGAAACAAATGGCCACA 0.488000 CTNNA3 29119 broad.mit.edu 37 10 68535241 68535241 + Missense_Mutation SNP T T A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr10:68535241T>A uc009xpn.1 - 8 1212 c.1089A>T c.(1087-1089)TTA>TTT p.L363F CTNNA3_uc001jmw.2_Missense_Mutation_p.L363F|CTNNA3_uc001jmx.3_Missense_Mutation_p.L363F NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 363 Potential. cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 ACATGTTGTCTAAAGCAATAT 0.368000 TNKS2 80351 broad.mit.edu 37 10 93611020 93611020 + Missense_Mutation SNP G G T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr10:93611020G>T uc001khp.2 + 21 3039 c.2742G>T c.(2740-2742)GAG>GAT p.E914D NM_025235 NP_079511 Q9H2K2 TNKS2_HUMAN tankyrase, TRF1-interacting ankyrin-related 914 SAM. positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm NAD+ ADP-ribosyltransferase activity|protein binding kidney(3)|skin(3)|ovary(1)|lung(1) 8 Colorectal(252;0.162) AGCTGAAGGAGATTGGAATCA 0.373000 OR52E8 390079 broad.mit.edu 37 11 5878629 5878629 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr11:5878629C>T uc010qzr.1 - 1 304 c.304G>A c.(304-306)GGC>AGC p.G102S TRIM5_uc001mbq.1_Intron NM_001005168 NP_001005168 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, 102 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAAGGCAGCCTCCAAAAGAT 0.473000 DBX1 120237 broad.mit.edu 37 11 20181547 20181547 + Silent SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr11:20181547C>T uc001mpw.1 - 1 324 c.324G>A c.(322-324)CTG>CTA p.L108L NM_001029865 NP_001025036 A6NMT0 DBX1_HUMAN developing brain homeobox 1 108 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CTCCAAACTTCAGAAACGTCG 0.662000 HARBI1 283254 broad.mit.edu 37 11 46637422 46637422 + Silent SNP T T C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr11:46637422T>C uc001ncy.2 - 2 614 c.366A>G c.(364-366)CCA>CCG p.P122P KIAA0652_uc009yld.2_5'Flank|KIAA0652_uc001nda.2_5'Flank|KIAA0652_uc001ndb.2_5'Flank|KIAA0652_uc001ncz.2_5'Flank|KIAA0652_uc001ndc.2_5'Flank|KIAA0652_uc010rgv.1_5'Flank NM_173811 NP_776172 Q96MB7 HARB1_HUMAN harbinger transposase derived 1 122 cytoplasm|nucleus metal ion binding|nuclease activity 0 CTTCATCAGCTGGAAAGCGAA 0.517000 F2 2147 broad.mit.edu 37 11 46747627 46747627 + Missense_Mutation SNP A A T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr11:46747627A>T uc001ndf.3 + 7 821 c.778A>T c.(778-780)AAC>TAC p.N260Y F2_uc001ndg.3_RNA NM_000506 NP_000497 P00734 THRB_HUMAN coagulation factor II preproprotein 260 Kringle 2. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity ovary(3) 3 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) GCTGGTGGAGAACTTCTGCCG 0.627000 OR4C15 81309 broad.mit.edu 37 11 55321947 55321947 + Missense_Mutation SNP G G A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr11:55321947G>A uc010rig.1 + 1 165 c.165G>A c.(163-165)ATG>ATA p.M55I NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 1 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGGGAAACATGCAAAACCAAA 0.363000 HNSCC(20;0.049) ESRRA 2101 broad.mit.edu 37 11 64081441 64081441 + Missense_Mutation SNP G G A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr11:64081441G>A uc001nzq.1 + 3 521 c.344G>A c.(343-345)TGT>TAT p.C115Y ESRRA_uc001nzr.1_Missense_Mutation_p.C115Y|ESRRA_uc001nzs.1_Missense_Mutation_p.C115Y|ESRRA_uc009ypn.1_5'Flank NM_004451 NP_004442 P11474 ERR1_HUMAN estrogen-related receptor alpha 115 NR C4-type.|Nuclear receptor. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding 0 GAGTACAGCTGTCCGGCCTCC 0.672000 EFEMP2 30008 broad.mit.edu 37 11 65638628 65638628 + Missense_Mutation SNP C C G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr11:65638628C>G uc001ofy.3 - 4 561 c.367G>C c.(367-369)GAT>CAT p.D123H EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.D123H NM_016938 NP_058634 O95967 FBLN4_HUMAN EGF-containing fibulin-like extracellular matrix 123 EGF-like 2; calcium-binding (Potential). blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(159;0.169) CCCCACTCACCCACACAGCTG 0.632000 GUCY1A2 2977 broad.mit.edu 37 11 106647285 106647285 + Nonsense_Mutation SNP G G T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr11:106647285G>T uc001pjg.1 - 6 2106 c.1716C>A c.(1714-1716)TAC>TAA p.Y572* GUCY1A2_uc010rvo.1_Nonsense_Mutation_p.Y593*|GUCY1A2_uc009yxn.1_Nonsense_Mutation_p.Y572* NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 572 Guanylate cyclase. intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding p.Y572Y(1) large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CTGCAACACAGTAGGCATCAC 0.443000 ZBTB16 7704 broad.mit.edu 37 11 113935245 113935245 + Missense_Mutation SNP T T A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr11:113935245T>A uc001pop.2 + 2 1487 c.1223T>A c.(1222-1224)GTG>GAG p.V408E ZBTB16_uc001poo.1_Missense_Mutation_p.V408E|ZBTB16_uc001poq.2_Missense_Mutation_p.V408E NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 408 C2H2-type 1. apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) CAGTGCAGCGTGTGTGGGGTC 0.637000 CADM1 23705 broad.mit.edu 37 11 115049487 115049487 + Missense_Mutation SNP C C A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr11:115049487C>A uc001ppi.3 - 9 1216 c.1087G>T c.(1087-1089)GCA>TCA p.A363S CADM1_uc001ppf.3_Missense_Mutation_p.A335S|CADM1_uc001ppk.3_Missense_Mutation_p.A335S|CADM1_uc001ppj.3_Missense_Mutation_p.A364S|CADM1_uc001pph.3_Missense_Mutation_p.A126S NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 363 Extracellular (Potential). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding ovary(2) 2 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) TCTTCACCTGCTCGGGAATCT 0.557000 SIK3 23387 broad.mit.edu 37 11 116734399 116734399 + Missense_Mutation SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr11:116734399G>C uc001ppy.2 - 15 1806 c.1770C>G c.(1768-1770)ATC>ATG p.I590M SIK3_uc001ppz.2_Missense_Mutation_p.I489M|SIK3_uc001pqa.2_Missense_Mutation_p.I590M|SIK3_uc001ppw.2_Missense_Mutation_p.I7M|SIK3_uc001ppx.2_Nonsense_Mutation_p.S65*|SIK3_uc001pqb.2_5'Flank NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 590 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 GCAGCTGTTTGATGCTGCTGT 0.577000 VPS11 55823 broad.mit.edu 37 11 118942531 118942531 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr11:118942531C>T uc010ryx.1 + 6 904 c.862C>T c.(862-864)CGT>TGT p.R288C VPS11_uc010ryy.1_Missense_Mutation_p.R134C NM_021729 NP_068375 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 288 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) CATTGTCTCCCGTGACCGGAA 0.517000 OR10G9 219870 broad.mit.edu 37 11 123894205 123894205 + Silent SNP T T A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr11:123894205T>A uc010sad.1 + 1 486 c.486T>A c.(484-486)ACT>ACA p.T162T NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 162 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CCATATTGACTTTCCATTTGC 0.552000 OR8A1 390275 broad.mit.edu 37 11 124440783 124440783 + Missense_Mutation SNP C C A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr11:124440783C>A uc010san.1 + 1 819 c.819C>A c.(817-819)TTC>TTA p.F273L NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, 273 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) CAACTGCATTCATGTACTTAA 0.512000 SIAE 54414 broad.mit.edu 37 11 124543599 124543599 + Silent SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr11:124543599G>C uc001qan.2 - 1 119 c.6C>G c.(4-6)GTC>GTG p.V2V SIAE_uc001qao.1_Silent_p.V2V|SPA17_uc001qap.2_5'Flank NM_170601 NP_733746 Q9HAT2 SIAE_HUMAN sialate O-acetylesterase precursor 2 extracellular region|lysosome carboxylesterase activity|sialate O-acetylesterase activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243) GCCCCGGCGCGACCATGCTTG 0.701000 FOXJ2 55810 broad.mit.edu 37 12 8203212 8203212 + Silent SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr12:8203212C>T uc001qtu.2 + 10 2717 c.1632C>T c.(1630-1632)CGC>CGT p.R544R NM_018416 NP_060886 Q9P0K8 FOXJ2_HUMAN forkhead box J2 544 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA 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 upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 Kidney(36;0.0944) GATACAATCGCCCAGGTAAGA 0.507000 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr12:25398284C>A uc001rgp.1 - 2 216 c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) RAPGEF3 10411 broad.mit.edu 37 12 48132941 48132941 + Missense_Mutation SNP G G A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr12:48132941G>A uc009zkp.2 - 23 2760 c.2320C>T c.(2320-2322)CCC>TCC p.P774S uc001rpv.2_Intron|RAPGEF3_uc001rpw.2_Missense_Mutation_p.P109S|RAPGEF3_uc001rpx.2_Missense_Mutation_p.P231S|RAPGEF3_uc010sln.1_Missense_Mutation_p.P271S|RAPGEF3_uc001rpy.2_RNA|RAPGEF3_uc009zkq.2_Missense_Mutation_p.P774S|RAPGEF3_uc001rpz.3_Missense_Mutation_p.P816S NM_001098532 NP_001092002 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor 3 isoform 774 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity lung(2)|skin(1)|pancreas(1) 4 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) AGAAGAAGGGGCATGAAGGGG 0.368000 TROAP 10024 broad.mit.edu 37 12 49724003 49724003 + Missense_Mutation SNP G G A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr12:49724003G>A uc001rtx.3 + 13 1542 c.1375G>A c.(1375-1377)GGA>AGA p.G459R TROAP_uc009zlh.2_Missense_Mutation_p.G459R|TROAP_uc001rty.2_Missense_Mutation_p.G167R NM_005480 NP_005471 Q12815 TROAP_HUMAN tastin isoform 1 459 cell adhesion cytoplasm ovary(1) 1 CCCTCTTAATGGAGGCTCTTC 0.542000 MFSD5 84975 broad.mit.edu 37 12 53647296 53647296 + Missense_Mutation SNP A A G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr12:53647296A>G uc001sci.1 + 2 868 c.677A>G c.(676-678)TAT>TGT p.Y226C MFSD5_uc001sch.1_Missense_Mutation_p.Y333C NM_032889 NP_116278 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 226 transport integral to membrane skin(2)|ovary(1) 3 GGGGAGAACTATGACCGGCAG 0.642000 MAP3K12 7786 broad.mit.edu 37 12 53880372 53880372 + Missense_Mutation SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr12:53880372G>C uc001sdm.1 - 4 479 c.381C>G c.(379-381)GAC>GAG p.D127E MAP3K12_uc001sdn.1_Missense_Mutation_p.D160E NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 127 Protein kinase. histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 CCCACTGCAGGTCCAGGATTT 0.612000 LRP1 4035 broad.mit.edu 37 12 57572689 57572689 + Missense_Mutation SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr12:57572689G>C uc001snd.2 + 28 5089 c.4623G>C c.(4621-4623)GAG>GAC p.E1541D NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1541 EGF-like 7.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ATCCCTGTGAGGCCAATGGGG 0.622000 NAV3 89795 broad.mit.edu 37 12 78415549 78415549 + Missense_Mutation SNP A A G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr12:78415549A>G uc001syp.2 + 9 2103 c.1930A>G c.(1930-1932)ACC>GCC p.T644A NAV3_uc001syo.2_Missense_Mutation_p.T644A NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 644 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AAATGAAGGTACCGCTTTACC 0.403000 HNSCC(70;0.22) LHX5 64211 broad.mit.edu 37 12 113909163 113909163 + Missense_Mutation SNP C C G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr12:113909163C>G uc001tvj.1 - 1 715 c.141G>C c.(139-141)GAG>GAC p.E47D NM_022363 NP_071758 Q9H2C1 LHX5_HUMAN LIM homeobox protein 5 47 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AGAGCTTGCCCTCGCGCGAGA 0.612000 SACS 26278 broad.mit.edu 37 13 23930063 23930063 + Missense_Mutation SNP A A G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr13:23930063A>G uc001uon.2 - 8 1277 c.688T>C c.(688-690)TGT>CGT p.C230R SACS_uc001uoo.2_Missense_Mutation_p.C83R|SACS_uc001uop.1_Missense_Mutation_p.C17R|SACS_uc001uoq.1_Missense_Mutation_p.C83R NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 230 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AGATTCCAACATTGGCCTGAT 0.373000 GPR12 2835 broad.mit.edu 37 13 27333438 27333438 + Missense_Mutation SNP A A C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr13:27333438A>C uc010aal.2 - 2 749 c.527T>G c.(526-528)GTC>GGC p.V176G GPR12_uc010tdl.1_Missense_Mutation_p.V17G NM_005288 NP_005279 P47775 GPR12_HUMAN G protein-coupled receptor 12 176 Helical; Name=4; (Potential). integral to plasma membrane 0 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) CCAGCCCATGACGGGCAGCAG 0.597000 FAM155A 728215 broad.mit.edu 37 13 107822920 107822920 + Silent SNP C C G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr13:107822920C>G uc001vql.2 - 3 1818 c.1302G>C c.(1300-1302)TCG>TCC p.S434S NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 434 Helical; (Potential). integral to membrane binding skin(1) 1 TCTGTGCTGCCGAGGCTGTGA 0.512000 PSMA6 5687 broad.mit.edu 37 14 35778166 35778166 + Missense_Mutation SNP C C A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr14:35778166C>A uc001wtd.2 + 3 327 c.218C>A c.(217-219)ACT>AAT p.T73N KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Translation_Start_Site|PSMA6_uc010tpu.1_Translation_Start_Site NM_002791 NP_002782 P60900 PSA6_HUMAN proteasome alpha 6 subunit 73 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity 0 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) TTCAAGATAACTGAAAACATT 0.299000 FSCB 84075 broad.mit.edu 37 14 44975763 44975763 + Missense_Mutation SNP A A G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr14:44975763A>G uc001wvn.2 - 1 737 c.428T>C c.(427-429)ATG>ACG p.M143T NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 143 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) GGGGATGTTCATCATGGTCCA 0.418000 PYGL 5836 broad.mit.edu 37 14 51383422 51383422 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr14:51383422C>T uc001wyu.2 - 9 1157 c.1030G>A c.(1030-1032)GCA>ACA p.A344T PYGL_uc010tqq.1_Missense_Mutation_p.A310T|PYGL_uc001wyv.2_Missense_Mutation_p.A18T|PYGL_uc010anz.1_Missense_Mutation_p.A147T NM_002863 NP_002854 P06737 PYGL_HUMAN liver glycogen phosphorylase isoform 1 344 AL -> RI (in Ref. 1; AAA52577). glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding skin(1) 1 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) ATCGCGAGTGCAGGGTGAGTG 0.483000 KIAA1409 57578 broad.mit.edu 37 14 93944063 93944063 + Missense_Mutation SNP C C A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr14:93944063C>A uc001ybv.1 + 1 160 c.77C>A c.(76-78)CCA>CAA p.P26Q KIAA1409_uc001ybs.1_Missense_Mutation_p.P26Q|KIAA1409_uc001ybu.1_Missense_Mutation_p.P26Q NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 203 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TCTTTTCTACCAATGGCTATA 0.348000 NDN 4692 broad.mit.edu 37 15 23931799 23931799 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr15:23931799C>T uc001ywk.2 - 1 652 c.566G>A c.(565-567)GGC>GAC p.G189D NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 189 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GAGCAGGAGGCCTGTCATGGG 0.657000 Prader-Willi_syndrome OCA2 4948 broad.mit.edu 37 15 28263631 28263631 + Missense_Mutation SNP C C A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr15:28263631C>A uc001zbh.3 - 7 829 c.719G>T c.(718-720)GGG>GTG p.G240V OCA2_uc010ayv.2_Missense_Mutation_p.G240V NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 240 Extracellular (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) ACGACTCGGCCCACTGGCCAC 0.637000 Oculocutaneous_Albinism APBA2 321 broad.mit.edu 37 15 29393862 29393862 + Missense_Mutation SNP G G T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr15:29393862G>T uc001zck.2 + 9 1606 c.1399G>T c.(1399-1401)GTA>TTA p.V467L APBA2_uc010azj.2_Missense_Mutation_p.V455L|APBA2_uc010uat.1_Missense_Mutation_p.V455L|APBA2_uc001zcl.2_Missense_Mutation_p.V455L|APBA2_uc001zcm.1_Missense_Mutation_p.V159L NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 467 PID. nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) TGGGAACATTGTAGTGCTGAT 0.582000 VPS13C 54832 broad.mit.edu 37 15 62173134 62173134 + Nonsense_Mutation SNP G G A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr15:62173134G>A uc002agz.2 - 72 9870 c.9796C>T c.(9796-9798)CAG>TAG p.Q3266* VPS13C_uc002aha.2_Nonsense_Mutation_p.Q3223*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.Q3266*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.Q3223* NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 3266 protein localization ovary(2) 2 GCCATTTCCTGAATGAGGACC 0.318000 IQGAP1 8826 broad.mit.edu 37 15 91020002 91020002 + Missense_Mutation SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr15:91020002G>C uc002bpl.1 + 24 2993 c.2892G>C c.(2890-2892)GAG>GAC p.E964D NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 964 C1. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) TGAGCAAGGAGAAGAGAGAGA 0.348000 TPSD1 23430 broad.mit.edu 37 16 1308365 1308365 + Silent SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr16:1308365G>C uc002clb.1 + 5 726 c.717G>C c.(715-717)GTG>GTC p.V239V NM_012217 NP_036349 Q9BZJ3 TRYD_HUMAN tryptase delta 1 precursor 239 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) TCTGCAAGGTGAATGGCACCT 0.642000 CASKIN1 57524 broad.mit.edu 37 16 2236780 2236780 + Missense_Mutation SNP C C A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr16:2236780C>A uc010bsg.1 - 10 1008 c.976G>T c.(976-978)GAC>TAC p.D326Y NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 326 SH3. signal transduction cytoplasm skin(2) 2 GTCCGGTTGTCATGGATGCAG 0.662000 SRRM2 23524 broad.mit.edu 37 16 2811985 2811985 + Missense_Mutation SNP A A G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr16:2811985A>G uc002crk.2 + 11 2005 c.1456A>G c.(1456-1458)AGC>GGC p.S486G SRRM2_uc002crj.1_Missense_Mutation_p.S390G|SRRM2_uc002crl.1_Missense_Mutation_p.S486G|SRRM2_uc010bsu.1_Missense_Mutation_p.S390G NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 486 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 GAGGTCCCGTAGCCCTGCCAC 0.562000 MYH11 4629 broad.mit.edu 37 16 15931924 15931924 + Silent SNP C C A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr16:15931924C>A uc002ddy.2 - 2 293 c.186G>T c.(184-186)CTG>CTT p.L62L MYH11_uc002ddv.2_Silent_p.L62L|MYH11_uc002ddw.2_Silent_p.L62L|MYH11_uc002ddx.2_Silent_p.L62L|MYH11_uc010bvg.2_5'UTR|MYH11_uc002deb.3_Silent_p.L62L NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 62 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 CATTCTCCACCAGCTCCACAA 0.587000 T CBFB AML RNF40 9810 broad.mit.edu 37 16 30779423 30779423 + Splice_Site SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr16:30779423G>C uc002dzq.2 + 13 1675 c.1552_splice c.e13-1 p.L518_splice RNF40_uc010caa.2_Splice_Site_p.L518_splice|RNF40_uc010cab.2_Splice_Site_p.L418_splice|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Splice_Site_p.L518_splice|RNF40_uc010vfb.1_Splice_Site_p.L210_splice|RNF40_uc010vfc.1_5'Flank NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) TGCCTTTGCAGCTCCGGGCCC 0.617000 PHKB 5257 broad.mit.edu 37 16 47533725 47533725 + Silent SNP A A C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr16:47533725A>C uc002eev.3 + 3 277 c.225A>C c.(223-225)ACA>ACC p.T75T PHKB_uc010vgi.1_Silent_p.T68T|PHKB_uc002eeu.3_Silent_p.T68T NM_000293 NP_000284 Q93100 KPBB_HUMAN phosphorylase kinase, beta isoform a 75 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity ovary(1)|large_intestine(1)|breast(1) 3 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) CCACTAAAACATGCGGTGGTG 0.507000 CBFB 865 broad.mit.edu 37 16 67100583 67100583 + Splice_Site SNP A A C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr16:67100583A>C uc002era.2 + 4 544 c.283_splice c.e4-2 p.V95_splice CBFB_uc002erb.2_Splice_Site_p.V95_splice|CBFB_uc010vja.1_Intron NM_001755 NP_001746 Q13951 PEBB_HUMAN core-binding factor, beta subunit isoform 2 transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2) 2 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066) TCTGTGTCTTAGGTATATTTG 0.343000 T MYH11 AML ADAD2 161931 broad.mit.edu 37 16 84229450 84229450 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr16:84229450C>T uc002fhr.2 + 7 1196 c.1082C>T c.(1081-1083)CCG>CTG p.P361L ADAD2_uc002fhq.2_Missense_Mutation_p.P443L|uc002fhs.1_Intron NM_001145400 NP_001138872 Q8NCV1 ADAD2_HUMAN adenosine deaminase domain containing 2 isoform 361 A to I editase. RNA processing intracellular adenosine deaminase activity|double-stranded RNA binding 0 GGTGGCCTCCCGCACAGCCCA 0.706000 PSMB6 5694 broad.mit.edu 37 17 4701662 4701662 + Missense_Mutation SNP T T A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr17:4701662T>A uc002fzb.2 + 6 698 c.665T>A c.(664-666)GTA>GAA p.V222E NM_002798 NP_002789 P28072 PSB6_HUMAN proteasome beta 6 subunit precursor 222 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity ovary(2) 2 GAGCGGCAAGTACTTTTGGGA 0.542000 PSMB6 5694 broad.mit.edu 37 17 4701676 4701676 + Nonsense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr17:4701676C>T uc002fzb.2 + 6 712 c.679C>T c.(679-681)CAG>TAG p.Q227* NM_002798 NP_002789 P28072 PSB6_HUMAN proteasome beta 6 subunit precursor 227 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity ovary(2) 2 TTTGGGAGACCAGATACCCAA 0.517000 TOP3A 7156 broad.mit.edu 37 17 18205295 18205295 + Silent SNP A A T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr17:18205295A>T uc002gsx.1 - 8 1048 c.819T>A c.(817-819)ACT>ACA p.T273T TOP3A_uc010vxr.1_5'Flank|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Silent_p.T171T|TOP3A_uc010cqa.1_RNA NM_004618 NP_004609 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 273 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding skin(3) 3 TGTGGTCATGAGTTACTATAT 0.398000 CNTNAP1 8506 broad.mit.edu 37 17 40847844 40847844 + Missense_Mutation SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr17:40847844G>C uc002iay.2 + 19 3514 c.3298G>C c.(3298-3300)GTC>CTC p.V1100L CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 1100 Laminin G-like 4.|Extracellular (Potential). axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) CCTGCTCTACGTCAGTTCCTT 0.602000 SLC4A1 6521 broad.mit.edu 37 17 42340029 42340029 + Silent SNP G G A rs56387601 TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr17:42340029G>A uc002igf.3 - 3 230 c.81C>T c.(79-81)CCC>CCT p.P27P SLC4A1_uc002igg.3_Silent_p.P27P NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 27 Cytoplasmic. bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) TCTGGGACTCGGGGATGTCTG 0.597000 WNT9B 7484 broad.mit.edu 37 17 44954024 44954024 + Silent SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr17:44954024C>T uc002ikw.1 + 4 1051 c.1014C>T c.(1012-1014)TGC>TGT p.C338C WNT9B_uc002ikx.1_Intron NM_003396 NP_003387 O14905 WNT9B_HUMAN wingless-type MMTV integration site family, 338 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.0257) TGCAGTGGTGCTGCTACGTGG 0.652000 NPEPPS 9520 broad.mit.edu 37 17 45695716 45695716 + Missense_Mutation SNP C C G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr17:45695716C>G uc002ilr.3 + 20 2519 c.2296C>G c.(2296-2298)CTT>GTT p.L766V NPEPPS_uc010wkt.1_Missense_Mutation_p.L762V|NPEPPS_uc010wku.1_Missense_Mutation_p.L730V|NPEPPS_uc010wkv.1_Missense_Mutation_p.L320V|NPEPPS_uc002ils.1_Missense_Mutation_p.L199V NM_006310 NP_006301 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 766 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding 0 TTTCCTGTAGCTTCATAAACA 0.393000 KPNB1 3837 broad.mit.edu 37 17 45755730 45755730 + Silent SNP C C G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr17:45755730C>G uc002ilt.1 + 19 2640 c.2304C>G c.(2302-2304)GCC>GCG p.A768A KPNB1_uc010wkw.1_Silent_p.A623A|KPNB1_uc010wkx.1_Silent_p.A552A NM_002265 NP_002256 Q14974 IMB1_HUMAN karyopherin beta 1 768 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 GCTTGGAAGCCTATACTGGAA 0.468000 OSBPL7 114881 broad.mit.edu 37 17 45893948 45893948 + Missense_Mutation SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr17:45893948G>C uc002ilx.1 - 10 1112 c.909C>G c.(907-909)TTC>TTG p.F303L OSBPL7_uc002ilw.1_5'UTR NM_145798 NP_665741 Q9BZF2 OSBL7_HUMAN oxysterol-binding protein-like protein 7 303 lipid transport lipid binding 0 CCAGGGCCCAGAAGCTGCGCT 0.657000 KIF2B 84643 broad.mit.edu 37 17 51902390 51902390 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr17:51902390C>T uc002iua.2 + 1 2152 c.1996C>T c.(1996-1998)CTC>TTC p.L666F uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 666 Potential. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 ACTAGCTGACCTCCACGTGAA 0.438000 MED13 9969 broad.mit.edu 37 17 60042586 60042586 + Nonsense_Mutation SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr17:60042586G>C uc002izo.2 - 20 4702 c.4625C>G c.(4624-4626)TCA>TGA p.S1542* NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1542 Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 GTTGGAGGATGATGAAGATGA 0.433000 KCNH6 81033 broad.mit.edu 37 17 61613061 61613061 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr17:61613061C>T uc002jay.2 + 6 1213 c.1133C>T c.(1132-1134)GCG>GTG p.A378V KCNH6_uc002jax.1_Missense_Mutation_p.A378V|KCNH6_uc010wpl.1_Missense_Mutation_p.A255V|KCNH6_uc010wpm.1_Missense_Mutation_p.A378V|KCNH6_uc002jaz.1_Missense_Mutation_p.A378V NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 378 Helical; Voltage-sensor; Name=Segment S4; (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) TTGAAGACAGCGCGGCTGCTG 0.602000 FOXK2 3607 broad.mit.edu 37 17 80545096 80545096 + Silent SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr17:80545096C>T uc002kfn.2 + 8 1905 c.1734C>T c.(1732-1734)AAC>AAT p.N578N FOXK2_uc002kfm.1_Silent_p.N578N|FOXK2_uc010diu.2_Intron NM_004514 NP_004505 Q01167 FOXK2_HUMAN forkhead box K2 578 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion 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 activator activity|transcription factor binding 0 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) TAACACAAAACGGCACTCACG 0.567000 MYOM1 8736 broad.mit.edu 37 18 3126706 3126706 + Missense_Mutation SNP G G A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr18:3126706G>A uc002klp.2 - 19 3318 c.2984C>T c.(2983-2985)GCA>GTA p.A995V MYOM1_uc002klq.2_Missense_Mutation_p.A899V NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 995 Fibronectin type-III 4. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 TACCTTGTATGCCTCCTCACT 0.507000 ABCA7 10347 broad.mit.edu 37 19 1041564 1041564 + Missense_Mutation SNP C C G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr19:1041564C>G uc002lqw.3 + 3 353 c.122C>G c.(121-123)GCT>GGT p.A41G ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.2_Missense_Mutation_p.A41G NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 41 Helical; (Potential). phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) ATCCTGGTGGCTGTTCGCCAC 0.632000 MUC16 94025 broad.mit.edu 37 19 8999536 8999536 + Missense_Mutation SNP C C A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr19:8999536C>A uc002mkp.2 - 56 40843 c.40639G>T c.(40639-40641)GTG>TTG p.V13547L MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.V364L|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ATGGCATCCACTTTGGTGGCT 0.582000 MUC16 94025 broad.mit.edu 37 19 9090173 9090173 + Missense_Mutation SNP G G T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr19:9090173G>T uc002mkp.2 - 1 1846 c.1642C>A c.(1642-1644)CCC>ACC p.P548T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 548 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GATGCTGGGGGTCTCTCTGTT 0.517000 ZNF700 90592 broad.mit.edu 37 19 12060327 12060327 + Silent SNP A A G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr19:12060327A>G uc002msu.2 + 4 1614 c.1488A>G c.(1486-1488)GAA>GAG p.E496E ZNF700_uc010xme.1_Silent_p.E514E|ZNF763_uc010xmf.1_Intron NM_144566 NP_653167 Q9H0M5 ZN700_HUMAN zinc finger protein 700 496 C2H2-type 10; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAAGGACAGAAAAACACATAA 0.378000 RFX1 5989 broad.mit.edu 37 19 14104517 14104517 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr19:14104517C>T uc002mxv.2 - 2 411 c.139G>A c.(139-141)GCT>ACT p.A47T RFX1_uc010dzi.2_Missense_Mutation_p.A47T NM_002918 NP_002909 P22670 RFX1_HUMAN regulatory factor X1 47 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity lung(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) ggggtggcagcagcggtgggt 0.134000 BRD4 23476 broad.mit.edu 37 19 15367029 15367029 + Missense_Mutation SNP G G T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr19:15367029G>T uc002nar.2 - 9 1819 c.1597C>A c.(1597-1599)CAG>AAG p.Q533K BRD4_uc002nas.2_Missense_Mutation_p.Q533K|BRD4_uc002nat.3_Missense_Mutation_p.Q533K|BRD4_uc002nau.3_Missense_Mutation_p.Q533K NM_058243 NP_490597 O60885 BRD4_HUMAN bromodomain-containing protein 4 isoform long 533 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) ggtttgttctgctGGGGCTGA 0.289000 T NUT|C15orf55 lethal midline carcinoma of young people ZNF254 9534 broad.mit.edu 37 19 24310227 24310227 + Silent SNP A A G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr19:24310227A>G uc002nru.2 + 4 1559 c.1425A>G c.(1423-1425)TCA>TCG p.S475S ZNF254_uc010xrk.1_Silent_p.S390S NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 475 C2H2-type 10. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) TATGGTCCTCAACCCTAACTA 0.393000 TSHZ3 57616 broad.mit.edu 37 19 31770079 31770079 + Missense_Mutation SNP A A T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr19:31770079A>T uc002nsy.3 - 2 685 c.620T>A c.(619-621)ATC>AAC p.I207N NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 207 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) CCCCGTGAAGATGGAGCCATA 0.622000 GGN 199720 broad.mit.edu 37 19 38876924 38876924 + Silent SNP G G A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr19:38876924G>A uc002oij.1 - 3 1113 c.978C>T c.(976-978)CCC>CCT p.P326P GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.P243P NM_152657 NP_689870 Q86UU5 GGN_HUMAN gametogenetin 326 Interaction with GGNBP1 (By similarity).|Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis 0 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CAGGCGCCGAGGGAGGACCAG 0.692000 LTBP4 8425 broad.mit.edu 37 19 41131900 41131900 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr19:41131900C>T uc002ooh.1 + 31 4172 c.4172C>T c.(4171-4173)CCT>CTT p.P1391L LTBP4_uc002oog.1_Missense_Mutation_p.P1354L|LTBP4_uc002ooi.1_Missense_Mutation_p.P1324L|LTBP4_uc002ooj.1_Missense_Mutation_p.P264L|LTBP4_uc002ook.1_Missense_Mutation_p.P525L|LTBP4_uc002ool.1_Missense_Mutation_p.P403L|LTBP4_uc010xvp.1_Missense_Mutation_p.P151L NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 1391 TB 4. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCCCTCTGCCCTGCGCAGGAC 0.652000 CIC 23152 broad.mit.edu 37 19 42794003 42794003 + Missense_Mutation SNP A A G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr19:42794003A>G uc002otf.1 + 9 1404 c.1364A>G c.(1363-1365)GAC>GGC p.D455G NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 455 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) CCCTCAGCTGACGATGGCTTC 0.607000 T DUX4 soft tissue sarcoma PSG3 5671 broad.mit.edu 37 19 43233472 43233472 + Missense_Mutation SNP T T G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr19:43233472T>G uc002oue.2 - 5 1178 c.1046A>C c.(1045-1047)AAC>ACC p.N349T PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.N349T|PSG3_uc010eil.2_Missense_Mutation_p.N371T NM_021016 NP_066296 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 349 Ig-like C2-type 3. Missing (in Ref. 9). defense response|female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) CAAGTAGAGGTTTTCTCCTGA 0.463000 POLD1 5424 broad.mit.edu 37 19 50906310 50906310 + Missense_Mutation SNP G G T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr19:50906310G>T uc002psb.3 + 9 1027 c.971G>T c.(970-972)GGC>GTC p.G324V POLD1_uc002psc.3_Missense_Mutation_p.G324V|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.G324V NM_002691 NP_002682 P28340 DPOD1_HUMAN DNA-directed DNA polymerase delta 1 324 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) TGCCTCGCAGGCATCTTCCCT 0.697000 DNA_polymerases_(catalytic_subunits) UBE2S 27338 broad.mit.edu 37 19 55915847 55915847 + Splice_Site SNP C C G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr19:55915847C>G uc002qkx.1 - 3 520 c.152_splice c.e3-1 p.E51_splice NM_014501 NP_055316 Q16763 UBE2S_HUMAN ubiquitin-conjugating enzyme E2S activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination anaphase-promoting complex ATP binding|ubiquitin-protein ligase activity 0 Breast(117;0.155) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.11) GGGGTCCCCTCTGGAGTGGAG 0.592000 NLRP13 126204 broad.mit.edu 37 19 56410202 56410202 + Missense_Mutation SNP A A C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr19:56410202A>C uc010ygg.1 - 10 2916 c.2891T>G c.(2890-2892)CTT>CGT p.L964R NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 964 LRR 6. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) ATCATCCTGAAGATCATTTTC 0.463000 ASAP2 8853 broad.mit.edu 37 2 9528481 9528481 + Missense_Mutation SNP A A G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:9528481A>G uc002qzh.2 + 22 2529 c.2189A>G c.(2188-2190)CAG>CGG p.Q730R ASAP2_uc002qzi.2_Missense_Mutation_p.Q730R NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 730 Potential. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 GGCTCCAACCAGCTTCAGTCT 0.552000 NOL10 79954 broad.mit.edu 37 2 10729750 10729750 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:10729750C>T uc002raq.2 - 18 1675 c.1550G>A c.(1549-1551)AGG>AAG p.R517K NOL10_uc010yje.1_Missense_Mutation_p.R491K|NOL10_uc010yjf.1_Missense_Mutation_p.R467K|NOL10_uc002rap.2_Missense_Mutation_p.R467K NM_024894 NP_079170 Q9BSC4 NOL10_HUMAN nucleolar protein 10 517 Potential. nucleolus 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207) TTTCTTCTTCCTTTTTTCACT 0.323000 SDC1 6382 broad.mit.edu 37 2 20403851 20403851 + Missense_Mutation SNP C C A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:20403851C>A uc002rdo.1 - 3 649 c.350G>T c.(349-351)CGG>CTG p.R117L SDC1_uc002rdp.1_Missense_Mutation_p.R117L|SDC1_uc010exv.2_Missense_Mutation_p.R117L|SDC1_uc010exw.1_RNA NM_002997 NP_002988 P18827 SDC1_HUMAN syndecan 1 precursor 117 Extracellular (Potential). lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding ovary(4)|skin(1) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) CTCCTGCTCCCGGGCGGTGAG 0.701000 BIRC6 57448 broad.mit.edu 37 2 32728208 32728208 + Missense_Mutation SNP C C G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:32728208C>G uc010ezu.2 + 49 9538 c.9404C>G c.(9403-9405)TCT>TGT p.S3135C NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3135 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TTTCTTGACTCTGGTCCAAAT 0.398000 SOS1 6654 broad.mit.edu 37 2 39213364 39213364 + Silent SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:39213364C>T uc002rrk.3 - 23 3644 c.3603G>A c.(3601-3603)CGG>CGA p.R1201R SOS1_uc002rrj.3_Silent_p.R800R NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 1201 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) AGATAGAGGTCCGGTCTGATA 0.473000 Noonan_syndrome TGOLN2 10618 broad.mit.edu 37 2 85554472 85554472 + Missense_Mutation SNP G G A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:85554472G>A uc010fgd.1 - 2 672 c.383C>T c.(382-384)CCG>CTG p.P128L TGOLN2_uc002soz.2_Missense_Mutation_p.P128L|TGOLN2_uc002spa.2_Intron|TGOLN2_uc002spb.2_Missense_Mutation_p.P128L|TGOLN2_uc002spc.1_Missense_Mutation_p.P128L NM_006464 NP_006455 O43493 TGON2_HUMAN trans-golgi network protein 2 128 Extracellular (Potential).|14 X 14 AA tandem repeats.|6. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding 0 CTGCAGCTCCGGATGCGACTT 0.587000 RANBP2 5903 broad.mit.edu 37 2 109398786 109398786 + Missense_Mutation SNP C C G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:109398786C>G uc002tem.3 + 27 9089 c.8963C>G c.(8962-8964)ACT>AGT p.T2988S NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2988 RanBD1 4. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 CACGTTATTACTAAAACAATG 0.333000 CNTNAP5 129684 broad.mit.edu 37 2 125504947 125504947 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:125504947C>T uc002tno.2 + 14 2580 c.2216C>T c.(2215-2217)GCT>GTT p.A739V CNTNAP5_uc010flu.2_Missense_Mutation_p.A740V NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 739 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) AATTGCGACGCTGACAAGGAT 0.483000 NEB 4703 broad.mit.edu 37 2 152376211 152376211 + Silent SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:152376211G>C uc010fnx.2 - 126 17639 c.17448C>G c.(17446-17448)CTC>CTG p.L5816L NEB_uc002txr.2_Silent_p.L2239L|NEB_uc002txt.3_Silent_p.L321L NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5816 Nebulin 159. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TGACTTTGTAGAGCTGGCTGT 0.259000 CYTIP 9595 broad.mit.edu 37 2 158272554 158272554 + Nonsense_Mutation SNP G G A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:158272554G>A uc002tzj.1 - 8 787 c.715C>T c.(715-717)CGA>TGA p.R239* CYTIP_uc010zcl.1_Nonsense_Mutation_p.R133* NM_004288 NP_004279 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 239 regulation of cell adhesion cell cortex|early endosome protein binding ovary(1)|kidney(1)|skin(1) 3 CTGGATAATCGATTCCGGTCC 0.542000 ATP5G3 518 broad.mit.edu 37 2 176046091 176046091 + Missense_Mutation SNP G G C rs140931538 TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:176046091G>C uc002ujz.3 - 1 301 c.31C>G c.(31-33)CCC>GCC p.P11A ATP5G3_uc002uka.3_Missense_Mutation_p.P11A|ATP5G3_uc002ukb.1_Missense_Mutation_p.P11A NM_001002258 NP_001002258 P48201 AT5G3_HUMAN ATP synthase, H+ transporting, mitochondrial F0 11 ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|lipid binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.147) ACCAGAGAGGGGGTGCAGGCG 0.652000 TFPI 7035 broad.mit.edu 37 2 188368450 188368450 + Missense_Mutation SNP A A G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:188368450A>G uc002upx.2 - 2 79 c.46T>C c.(46-48)TGC>CGC p.C16R TFPI_uc002upy.2_Missense_Mutation_p.C16R|TFPI_uc002upz.2_Missense_Mutation_p.C12R|TFPI_uc002uqa.2_Missense_Mutation_p.C16R|TFPI_uc002uqb.2_Missense_Mutation_p.C16R NM_006287 NP_006278 P10646 TFPI1_HUMAN tissue factor pathway inhibitor isoform a 16 blood coagulation, extrinsic pathway extracellular space|plasma membrane serine-type endopeptidase inhibitor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0554) Coagulation factor VIIa(DB00036) AGCAGCAGGCATACAGAAGCC 0.358000 GULP1 51454 broad.mit.edu 37 2 189406025 189406025 + Missense_Mutation SNP G G T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:189406025G>T uc010fru.2 + 7 840 c.379G>T c.(379-381)GTA>TTA p.V127L GULP1_uc002uqc.3_Missense_Mutation_p.V127L|GULP1_uc002uqd.2_Missense_Mutation_p.V127L|GULP1_uc010zfw.1_Intron|GULP1_uc002uqe.2_Missense_Mutation_p.V127L|GULP1_uc002uqf.2_Missense_Mutation_p.V127L|GULP1_uc002uqg.2_Missense_Mutation_p.V127L NM_016315 NP_057399 Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing 127 PID. apoptosis|lipid transport|phagocytosis, engulfment cytoplasm|intracellular membrane-bounded organelle signal transducer activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) TTTGTGCTATGTATTTGACAG 0.363000 GULP1 51454 broad.mit.edu 37 2 189406027 189406027 + Silent SNP A A T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:189406027A>T uc010fru.2 + 7 842 c.381A>T c.(379-381)GTA>GTT p.V127V GULP1_uc002uqc.3_Silent_p.V127V|GULP1_uc002uqd.2_Silent_p.V127V|GULP1_uc010zfw.1_Intron|GULP1_uc002uqe.2_Silent_p.V127V|GULP1_uc002uqf.2_Silent_p.V127V|GULP1_uc002uqg.2_Silent_p.V127V NM_016315 NP_057399 Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing 127 PID. apoptosis|lipid transport|phagocytosis, engulfment cytoplasm|intracellular membrane-bounded organelle signal transducer activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) TGTGCTATGTATTTGACAGCG 0.353000 STAT4 6775 broad.mit.edu 37 2 191922752 191922752 + Nonsense_Mutation SNP G G A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:191922752G>A uc002usm.1 - 13 1452 c.1198C>T c.(1198-1200)CGA>TGA p.R400* STAT4_uc002usn.1_Nonsense_Mutation_p.R400*|STAT4_uc010zgk.1_Nonsense_Mutation_p.R245*|STAT4_uc002uso.2_Nonsense_Mutation_p.R400* NM_003151 NP_003142 Q14765 STAT4_HUMAN signal transducer and activator of transcription 400 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) ACCAAATGTCGAAATTCTACT 0.363000 DNAH7 56171 broad.mit.edu 37 2 196883950 196883950 + Missense_Mutation SNP C C G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:196883950C>G uc002utj.3 - 9 914 c.813G>C c.(811-813)TTG>TTC p.L271F NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 271 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TCATTGCATTCAAGTGATCCC 0.353000 CST9 128822 broad.mit.edu 37 20 23586247 23586247 + Silent SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr20:23586247C>T uc002wtl.2 - 1 364 c.255G>A c.(253-255)AAG>AAA p.K85K NM_001008693 NP_001008693 Q5W186 CST9_HUMAN cystatin 9 precursor 85 extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 Colorectal(13;0.0993) GGTCACCAACCTTTCTGTCCA 0.527000 TRPC4AP 26133 broad.mit.edu 37 20 33591321 33591321 + Silent SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr20:33591321C>T uc002xbk.2 - 18 2182 c.2148G>A c.(2146-2148)GAG>GAA p.E716E TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Silent_p.E307E|TRPC4AP_uc002xbl.2_Silent_p.E708E|TRPC4AP_uc010zur.1_Silent_p.E677E NM_015638 NP_056453 Q8TEL6 TP4AP_HUMAN TRPC4-associated protein isoform a 716 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00936) TCTTGCTGTGCTCCATCCGCT 0.612000 CEP250 11190 broad.mit.edu 37 20 34079123 34079123 + Missense_Mutation SNP A A C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr20:34079123A>C uc002xcm.2 + 23 3511 c.2840A>C c.(2839-2841)CAA>CCA p.Q947P CEP250_uc010zve.1_Missense_Mutation_p.Q315P NM_007186 NP_009117 Q9BV73 CP250_HUMAN centrosomal protein 2 947 Gln/Glu-rich.|Potential. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding ovary(4)|central_nervous_system(1) 5 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GCCAGCCAACAACTGGAACGA 0.522000 DLGAP4 22839 broad.mit.edu 37 20 35075102 35075102 + Silent SNP A A G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr20:35075102A>G uc002xff.2 + 7 1845 c.1410A>G c.(1408-1410)GTA>GTG p.V470V DLGAP4_uc010zvp.1_Silent_p.V470V NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 470 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CTGGACAGGTACGGGAGGCAG 0.637000 KIAA1755 85449 broad.mit.edu 37 20 36841769 36841769 + Missense_Mutation SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr20:36841769G>C uc002xhy.1 - 14 3550 c.3278C>G c.(3277-3279)CCT>CGT p.P1093R KIAA1755_uc002xhv.1_Missense_Mutation_p.P157R|KIAA1755_uc002xhw.1_Missense_Mutation_p.P148R|KIAA1755_uc002xhx.1_Missense_Mutation_p.P371R NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 1093 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) GTCTAGTGGAGGCTGATCCCA 0.607000 RBPJL 11317 broad.mit.edu 37 20 43940873 43940873 + Missense_Mutation SNP G G A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr20:43940873G>A uc002xns.2 + 6 529 c.457G>A c.(457-459)GCC>ACC p.A153T RBPJL_uc002xnt.2_Missense_Mutation_p.A153T NM_014276 NP_055091 Q9UBG7 RBPJL_HUMAN recombining binding protein L 153 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) ATTCGGCTGCGCCAAGACCCT 0.537000 OREG0025979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KCNB1 3745 broad.mit.edu 37 20 48098857 48098857 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr20:48098857C>T uc002xur.1 - 1 325 c.161G>A c.(160-162)CGC>CAC p.R54H KCNB1_uc002xus.1_Missense_Mutation_p.R54H NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 54 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CAGCCGCGTGCGGGGCAGGCG 0.667000 SON 6651 broad.mit.edu 37 21 34924118 34924118 + Missense_Mutation SNP A A G rs142324795 TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr21:34924118A>G uc002yse.1 + 3 2630 c.2581A>G c.(2581-2583)ATG>GTG p.M861V SON_uc002ysb.1_Missense_Mutation_p.M861V|SON_uc002ysc.2_Missense_Mutation_p.M861V|SON_uc002ysd.2_Intron|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 861 17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 AACTAGCTCAATGGATTCCCA 0.493000 MGAT3 4248 broad.mit.edu 37 22 39883695 39883695 + Missense_Mutation SNP G G A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr22:39883695G>A uc003axv.3 + 2 582 c.343G>A c.(343-345)GGC>AGC p.G115S MGAT3_uc010gxy.2_Missense_Mutation_p.G115S NM_002409 NP_002400 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein 115 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity 0 Melanoma(58;0.04) CAAGGCCGGCGGCGTCTGCTT 0.726000 CCR8 1237 broad.mit.edu 37 3 39374532 39374532 + Missense_Mutation SNP T T C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr3:39374532T>C uc010hhr.2 + 2 848 c.710T>C c.(709-711)ATC>ACC p.I237T CCR8_uc003cjm.2_Missense_Mutation_p.I154T NM_005201 NP_005192 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 237 Cytoplasmic (Potential). cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity ovary(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) ACCAAGGCCATCAGGTTGGTG 0.433000 TLR9 54106 broad.mit.edu 37 3 52255985 52255985 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr3:52255985C>T uc003dda.1 - 2 2981 c.2347G>A c.(2347-2349)GGT>AGT p.G783S TLR9_uc003ddb.2_Missense_Mutation_p.G880S NM_017442 NP_059138 Q9NR96 TLR9_HUMAN toll-like receptor 9 isoform A precursor 783 Extracellular (Potential). defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity large_intestine(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) CTGGGCAGACCGGGCACGGCA 0.647000 LRTM1 57408 broad.mit.edu 37 3 54952777 54952777 + Silent SNP A A T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr3:54952777A>T uc003dhl.2 - 3 881 c.747T>A c.(745-747)TCT>TCA p.S249S CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron NM_020678 NP_065729 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 249 Extracellular (Potential). integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) CACCGTGGGCAGAGCCGGGCC 0.632000 CASR 846 broad.mit.edu 37 3 122003879 122003879 + Silent SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr3:122003879C>T uc003eev.3 + 7 3450 c.3078C>T c.(3076-3078)ACC>ACT p.T1026T CASR_uc003eew.3_Silent_p.T1036T NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 1026 Cytoplasmic (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TAGATCTGACCGTCCAGGAAA 0.597000 MYLK 4638 broad.mit.edu 37 3 123359146 123359146 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr3:123359146C>T uc003ego.2 - 28 5107 c.4825G>A c.(4825-4827)GCC>ACC p.A1609T MYLK_uc010hrr.2_Missense_Mutation_p.A44T|MYLK_uc011bjv.1_Missense_Mutation_p.A409T|MYLK_uc011bjw.1_Missense_Mutation_p.A1609T|MYLK_uc003egp.2_Missense_Mutation_p.A1540T|MYLK_uc003egq.2_Missense_Mutation_p.A1609T|MYLK_uc003egr.2_Missense_Mutation_p.A1540T|MYLK_uc003egs.2_Missense_Mutation_p.A1433T NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1609 Protein kinase. A -> P (in Ref. 1; CAA59685). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) AGCCTCCTGGCCAGACCAAAG 0.537000 RPN1 6184 broad.mit.edu 37 3 128369586 128369586 + Missense_Mutation SNP C C G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr3:128369586C>G uc003ekr.1 - 1 134 c.58G>C c.(58-60)GCG>CCG p.A20P RPN1_uc011bkq.1_Intron NM_002950 NP_002941 P04843 RPN1_HUMAN ribophorin I precursor 20 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(114;0.189) CTGCCCGGCGCCGGGGCCCAA 0.697000 T EVI1 AML DHX36 170506 broad.mit.edu 37 3 154024054 154024054 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr3:154024054C>T uc003ezy.3 - 6 925 c.844G>A c.(844-846)GAA>AAA p.E282K DHX36_uc010hvq.2_Missense_Mutation_p.E282K|DHX36_uc003ezz.3_Missense_Mutation_p.E282K NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 282 Helicase ATP-binding. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CCACAAGATTCTGCCCTTTCT 0.338000 LRPAP1 4043 broad.mit.edu 37 4 3521919 3521919 + Silent SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr4:3521919G>C uc003ghi.2 - 3 436 c.351C>G c.(349-351)GTC>GTG p.V117V NM_002337 NP_002328 P30533 AMRP_HUMAN low density lipoprotein receptor-related protein 117 negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport cell surface|integral to membrane|plasma membrane asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.165) TGGCCAAGATGACTAGGAGAG 0.547000 GPR125 166647 broad.mit.edu 37 4 22389842 22389842 + Missense_Mutation SNP A A G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr4:22389842A>G uc003gqm.1 - 19 3717 c.3452T>C c.(3451-3453)ATT>ACT p.I1151T GPR125_uc010ieo.1_Missense_Mutation_p.I1007T|GPR125_uc003gql.1_Missense_Mutation_p.I278T NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 1151 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) GTGCATTTTAATATCATTGTC 0.468000 ANK2 287 broad.mit.edu 37 4 114275995 114275995 + Missense_Mutation SNP G G T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr4:114275995G>T uc003ibe.3 + 38 6321 c.6221G>T c.(6220-6222)GGA>GTA p.G2074V ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.G2089V NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2041 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCCTCCATAGGAGTTAAGAAA 0.473000 ADAMTS16 170690 broad.mit.edu 37 5 5191803 5191803 + Missense_Mutation SNP G G T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr5:5191803G>T uc003jdl.2 + 8 1351 c.1213G>T c.(1213-1215)GCA>TCA p.A405S ADAMTS16_uc003jdk.1_Missense_Mutation_p.A405S|ADAMTS16_uc003jdj.1_Missense_Mutation_p.A405S NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 405 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 CACAGGATTTGCACCCATAAG 0.383000 DNAH5 1767 broad.mit.edu 37 5 13794139 13794139 + Missense_Mutation SNP C C T rs140968268 TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr5:13794139C>T uc003jfd.2 - 48 7958 c.7916G>A c.(7915-7917)CGA>CAA p.R2639Q NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2639 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R2639Q(1) ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TGTACCCATTCGTTTATCCAC 0.368000 Kartagener_syndrome MYO10 4651 broad.mit.edu 37 5 16682101 16682101 + Silent SNP G G A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr5:16682101G>A uc003jft.3 - 31 4536 c.4068C>T c.(4066-4068)ATC>ATT p.I1356I MYO10_uc011cnb.1_5'UTR|MYO10_uc011cnc.1_Silent_p.I235I|MYO10_uc011cnd.1_Silent_p.I713I|MYO10_uc011cne.1_Silent_p.I713I|MYO10_uc010itx.2_Silent_p.I978I NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1356 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 GGTTGGCCGTGATGATCACAA 0.577000 CDH6 1004 broad.mit.edu 37 5 31305332 31305332 + Missense_Mutation SNP A A C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr5:31305332A>C uc003jhe.1 + 7 1377 c.1051A>C c.(1051-1053)AAT>CAT p.N351H CDH6_uc003jhd.1_Missense_Mutation_p.N351H NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 351 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 GGAAGCCTCCAATCCTTATGT 0.458000 OXCT1 5019 broad.mit.edu 37 5 41850261 41850261 + Missense_Mutation SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr5:41850261G>C uc003jmn.2 - 5 766 c.435C>G c.(433-435)ATC>ATG p.I145M NM_000436 NP_000427 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 precursor 145 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity ovary(2)|large_intestine(1) 3 Succinic acid(DB00139) CGCCTGCACGGATCCTCTCTG 0.507000 TRIM23 373 broad.mit.edu 37 5 64890371 64890371 + Missense_Mutation SNP G G A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr5:64890371G>A uc003jty.2 - 10 1608 c.1522C>T c.(1522-1524)CTC>TTC p.L508F TRIM23_uc003jtw.2_Missense_Mutation_p.L508F|TRIM23_uc003jtx.2_Missense_Mutation_p.L508F NM_001656 NP_001647 P36406 TRI23_HUMAN ADP-ribosylation factor domain protein 1 isoform 508 ARF-like. interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) AAAATCAGGAGCAGAGCATCT 0.353000 SV2C 22987 broad.mit.edu 37 5 75621291 75621291 + Silent SNP C C A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr5:75621291C>A uc003kei.1 + 13 2237 c.2103C>A c.(2101-2103)ATC>ATA p.I701I NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 701 Helical; (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) CAATCCCCATCCTGCTGGCTT 0.512000 LHFPL2 10184 broad.mit.edu 37 5 77784944 77784944 + Missense_Mutation SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr5:77784944G>C uc003kfo.2 - 5 1139 c.463C>G c.(463-465)CCT>GCT p.P155A NM_005779 NP_005770 Q6ZUX7 LHPL2_HUMAN lipoma HMGIC fusion partner-like 2 155 integral to membrane 0 all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218) OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36) CAGCCAGCAGGGTAGAGTATC 0.478000 RGMB 285704 broad.mit.edu 37 5 98128788 98128788 + Splice_Site SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr5:98128788G>C uc003knc.2 + 5 1171 c.769_splice c.e5-1 p.I257_splice NM_001012761 NP_001012779 Q6NW40 RGMB_HUMAN RGM domain family, member B axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft identical protein binding 0 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) CCTTCCCACAGATCACTATTA 0.507000 AP3S1 1176 broad.mit.edu 37 5 115249114 115249114 + Missense_Mutation SNP T T G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr5:115249114T>G uc003krl.2 + 6 625 c.509T>G c.(508-510)CTT>CGT p.L170R AP3S1_uc003krk.2_Missense_Mutation_p.L148R|AP3S1_uc003krm.2_Missense_Mutation_p.L134R NM_001284 NP_001275 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 170 insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle protein binding|protein transporter activity 0 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) AATATGAATCTTCCTGAGATC 0.388000 PITX1 5307 broad.mit.edu 37 5 134369448 134369448 + Missense_Mutation SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr5:134369448G>C uc010jea.2 - 1 517 c.124C>G c.(124-126)CCG>GCG p.P42A uc003laj.1_Intron|PITX1_uc011cxy.1_Missense_Mutation_p.P42A NM_002653 NP_002644 P78337 PITX1_HUMAN paired-like homeodomain transcription factor 1 42 nucleolus sequence-specific DNA binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) TTCTCGAGCGGCTCGCGGGGG 0.776000 SLC26A2 1836 broad.mit.edu 37 5 149357287 149357287 + Silent SNP A A C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr5:149357287A>C uc003lrh.2 + 2 340 c.72A>C c.(70-72)CCA>CCC p.P24P NM_000112 NP_000103 P50443 S26A2_HUMAN solute carrier family 26 member 2 24 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ACAGTTATCCATCTGGGATCC 0.413000 PDGFRB 5159 broad.mit.edu 37 5 149510205 149510205 + Missense_Mutation SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr5:149510205G>C uc003lro.2 - 9 1733 c.1264C>G c.(1264-1266)CTA>GTA p.L422V PDGFRB_uc010jhd.2_Missense_Mutation_p.L261V NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 422 Extracellular (Potential).|Ig-like C2-type 5. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CTCTCACTTAGCTCCAGCACT 0.617000 T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML OREG0016927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SOX30 11063 broad.mit.edu 37 5 157078924 157078924 + Missense_Mutation SNP A A G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr5:157078924A>G uc003lxb.1 - 1 505 c.163T>C c.(163-165)TGC>CGC p.C55R SOX30_uc003lxc.1_Missense_Mutation_p.C55R|SOX30_uc011dds.1_Intron NM_178424 NP_848511 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 isoform a 55 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus|nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity ovary(1)|central_nervous_system(1) 2 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCCTCCCCGCACGACGAGGCC 0.692000 WWC1 23286 broad.mit.edu 37 5 167798508 167798508 + Missense_Mutation SNP G G T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr5:167798508G>T uc003lzu.2 + 2 292 c.199G>T c.(199-201)GTT>TTT p.V67F WWC1_uc003lzv.2_Missense_Mutation_p.V67F|WWC1_uc011den.1_Missense_Mutation_p.V67F NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 67 WW 2. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) TGACCCACAGGTTGGAGATTA 0.547000 ADAMTS2 9509 broad.mit.edu 37 5 178555091 178555091 + Nonsense_Mutation SNP G G T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr5:178555091G>T uc003mjw.2 - 17 2486 c.2486C>A c.(2485-2487)TCA>TAA p.S829* NM_014244 NP_055059 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 829 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GTACGTCAGTGAGACCCGGGT 0.572000 ABCC10 89845 broad.mit.edu 37 6 43400111 43400111 + Silent SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr6:43400111G>C uc003ouy.1 + 3 608 c.393G>C c.(391-393)CGG>CGC p.R131R ABCC10_uc003ouz.1_Silent_p.R88R NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 131 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GCCACTCCCGGGGTCCCTTGG 0.647000 C6orf154 221424 broad.mit.edu 37 6 43477513 43477513 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr6:43477513C>T uc003ovk.1 - 1 912 c.11G>A c.(10-12)AGC>AAC p.S4N C6orf154_uc003ovj.1_5'Flank NM_001012974 NP_001012992 Q5JTD7 CF154_HUMAN hypothetical protein LOC221424 4 0 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) CTGGATGGAGCTGGGCAGCAT 0.562000 TDRD6 221400 broad.mit.edu 37 6 46658067 46658067 + Silent SNP T T G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr6:46658067T>G uc003oyj.2 + 1 2202 c.2202T>G c.(2200-2202)ACT>ACG p.T734T TDRD6_uc010jze.2_Silent_p.T728T NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 734 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) ATGGTTCAACTGAACTAGTTG 0.403000 FILIP1 27145 broad.mit.edu 37 6 76063347 76063347 + Silent SNP G G T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr6:76063347G>T uc003pia.2 - 4 910 c.537C>A c.(535-537)ACC>ACA p.T179T FILIP1_uc003phy.1_Silent_p.T179T|FILIP1_uc003phz.2_Silent_p.T80T|FILIP1_uc010kbe.2_Silent_p.T182T NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 179 skin(3)|ovary(1) 4 ACTCGTATACGGTGCGCCTAT 0.502000 CNR1 1268 broad.mit.edu 37 6 88853985 88853985 + Missense_Mutation SNP T T C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr6:88853985T>C uc011dzq.1 - 2 4572 c.1009A>G c.(1009-1011)ATG>GTG p.M337V CNR1_uc010kbz.2_Missense_Mutation_p.M337V|CNR1_uc011dzr.1_Missense_Mutation_p.M337V|CNR1_uc011dzs.1_Missense_Mutation_p.M337V|CNR1_uc003pmq.3_Missense_Mutation_p.M337V|CNR1_uc011dzt.1_Missense_Mutation_p.M337V|CNR1_uc010kca.2_Missense_Mutation_p.M304V NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 337 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) CTAATGTCCATGCGGGCTTGG 0.562000 LAMA4 3910 broad.mit.edu 37 6 112486373 112486373 + Missense_Mutation SNP C C G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr6:112486373C>G uc003pvu.2 - 13 1966 c.1657G>C c.(1657-1659)GAT>CAT p.D553H LAMA4_uc003pvv.2_Missense_Mutation_p.D546H|LAMA4_uc003pvt.2_Missense_Mutation_p.D546H NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 553 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TTTATTATATCATCAAGTTCT 0.413000 LAMA2 3908 broad.mit.edu 37 6 129725052 129725052 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr6:129725052C>T uc003qbn.2 + 40 5918 c.5813C>T c.(5812-5814)GCT>GTT p.A1938V LAMA2_uc003qbo.2_Missense_Mutation_p.A1938V NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1938 Domain II and I.|Potential. 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) ATTGATGAAGCTGAGAAAGTT 0.408000 BMPER 168667 broad.mit.edu 37 7 34118785 34118785 + Silent SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr7:34118785G>C uc011kap.1 + 12 1509 c.1395G>C c.(1393-1395)GTG>GTC p.V465V NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 465 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 TCTTGAAAGTGACCACCAAAG 0.627000 PKD1L1 168507 broad.mit.edu 37 7 47894499 47894499 + Missense_Mutation SNP G G T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr7:47894499G>T uc003tny.1 - 30 4840 c.4840C>A c.(4840-4842)CCC>ACC p.P1614T NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1614 Extracellular (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 AACATGACGGGAAATGCCCTT 0.393000 ADAM28 10863 broad.mit.edu 37 8 24170996 24170996 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr8:24170996C>T uc003xdy.2 + 6 562 c.479C>T c.(478-480)CCT>CTT p.P160L ADAM28_uc003xdx.2_Missense_Mutation_p.P160L|ADAM28_uc011kzz.1_Intron|ADAM28_uc011laa.1_RNA NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 isoform 1 160 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding skin(3)|lung(1)|central_nervous_system(1) 5 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AAGTATAACCCTGATGAAAAG 0.473000 ADRA1A 148 broad.mit.edu 37 8 26722311 26722311 + Missense_Mutation SNP G G A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr8:26722311G>A uc003xfh.1 - 1 612 c.176C>T c.(175-177)TCA>TTA p.S59L ADRA1A_uc003xfc.1_Missense_Mutation_p.S59L|ADRA1A_uc010lul.1_Missense_Mutation_p.S59L|ADRA1A_uc003xfd.1_RNA|ADRA1A_uc003xfe.1_Missense_Mutation_p.S59L|ADRA1A_uc010lum.1_Missense_Mutation_p.S59L|ADRA1A_uc003xff.1_RNA|ADRA1A_uc003xfg.1_Missense_Mutation_p.S59L NM_000680 NP_000671 P35348 ADA1A_HUMAN alpha-1A-adrenergic receptor isoform 1 59 Cytoplasmic (By similarity). activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) GTGCGTGACTGAGTGCAGGTG 0.602000 TEX15 56154 broad.mit.edu 37 8 30703031 30703031 + Missense_Mutation SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr8:30703031G>C uc003xil.2 - 1 3503 c.3503C>G c.(3502-3504)TCT>TGT p.S1168C NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1168 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AGTTTTTCCAGAAAAGGGCTG 0.358000 WWP1 11059 broad.mit.edu 37 8 87454884 87454884 + Missense_Mutation SNP C C A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr8:87454884C>A uc003ydt.2 + 18 2155 c.1875C>A c.(1873-1875)AAC>AAA p.N625K WWP1_uc010mai.2_Missense_Mutation_p.N401K NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 625 HECT. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity lung(1)|liver(1) 2 AAGTTTTGAACCCAATGTATT 0.313000 NFKBIL2 4796 broad.mit.edu 37 8 145655822 145655822 + Missense_Mutation SNP T T C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr8:145655822T>C uc011llg.1 - 25 3923 c.3908A>G c.(3907-3909)AAG>AGG p.K1303R VPS28_uc003zcs.1_5'Flank|VPS28_uc003zct.1_5'Flank NM_013432 NP_038460 Q96HA7 TONSL_HUMAN NF-kappa-B inhibitor-like protein 2 1303 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity 0 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TTGGGGCCGCTTTTGGAGGGT 0.587000 RLN2 6019 broad.mit.edu 37 9 5304475 5304475 + Missense_Mutation SNP C C G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr9:5304475C>G uc003zja.1 - 1 106 c.106G>C c.(106-108)GGC>CGC p.G36R RLN2_uc003ziz.1_Missense_Mutation_p.G36R NM_134441 NP_604390 P04090 REL2_HUMAN relaxin 2 isoform 1 preproprotein 36 female pregnancy extracellular region hormone activity 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987) AATTCGCGGCCGCATAATTTA 0.498000 C9orf79 286234 broad.mit.edu 37 9 90500146 90500146 + Silent SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr9:90500146G>C uc004app.3 + 4 779 c.744G>C c.(742-744)CCG>CCC p.P248P C9orf79_uc004apo.1_Silent_p.P60P NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 248 Pro-rich. integral to membrane ovary(3) 3 CACCACAGCCGCATGGTCCCC 0.627000 C9orf79 286234 broad.mit.edu 37 9 90500153 90500153 + Missense_Mutation SNP C C A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr9:90500153C>A uc004app.3 + 4 786 c.751C>A c.(751-753)CCC>ACC p.P251T C9orf79_uc004apo.1_Missense_Mutation_p.P63T NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 251 Pro-rich. integral to membrane ovary(3) 3 GCCGCATGGTCCCCTGGCCTC 0.622000 PTPDC1 138639 broad.mit.edu 37 9 96860706 96860706 + Missense_Mutation SNP C C G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr9:96860706C>G uc004auf.1 + 7 2036 c.1696C>G c.(1696-1698)CAG>GAG p.Q566E PTPDC1_uc004aug.1_Missense_Mutation_p.Q566E|PTPDC1_uc004auh.1_Missense_Mutation_p.Q618E|PTPDC1_uc010mrj.1_Missense_Mutation_p.Q620E|PTPDC1_uc010mri.1_Missense_Mutation_p.Q618E NM_177995 NP_818931 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 566 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 ACATGAAACCCAGGACAGTAA 0.527000 CRB2 286204 broad.mit.edu 37 9 126132605 126132605 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr9:126132605C>T uc004bnx.1 + 7 1365 c.1273C>T c.(1273-1275)CAC>TAC p.H425Y CRB2_uc004bnw.1_Missense_Mutation_p.H425Y NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 425 Extracellular (Potential).|EGF-like 9. extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 TTACGTCTGCCACTGCCCACC 0.622000 SET 6418 broad.mit.edu 37 9 131455034 131455034 + Missense_Mutation SNP G G C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr9:131455034G>C uc004bvt.3 + 4 648 c.407G>C c.(406-408)AGA>ACA p.R136T SET_uc004bvu.3_Missense_Mutation_p.R123T|SET_uc010myg.2_RNA|SET_uc011mbj.1_Missense_Mutation_p.R112T NM_001122821 NP_001116293 Q01105 SET_HUMAN SET translocation (myeloid leukemia-associated) 136 DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity 0 Myeloproliferative disorder(178;0.204) GBM - Glioblastoma multiforme(294;3.1e-09) TCAGGTTACAGAATAGATTTT 0.373000 T NUP214 AML SEC16A 9919 broad.mit.edu 37 9 139357381 139357381 + Missense_Mutation SNP C C G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr9:139357381C>G uc004chx.2 - 12 5160 c.4851G>C c.(4849-4851)GAG>GAC p.E1617D SEC16A_uc004chv.3_Missense_Mutation_p.E1007D|SEC16A_uc004chw.2_Missense_Mutation_p.E1617D|SEC16A_uc010nbn.2_Missense_Mutation_p.E1617D NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 1439 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) ACCTCTCGGTCTCTCTCTCGA 0.632000 CXorf22 170063 broad.mit.edu 37 X 35984819 35984819 + Missense_Mutation SNP C C G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chrX:35984819C>G uc004ddj.2 + 9 1607 c.1548C>G c.(1546-1548)TTC>TTG p.F516L CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 516 large_intestine(1)|lung(1)|ovary(1) 3 ATTTAGCTTTCAACAGCATCT 0.373000 UPRT 139596 broad.mit.edu 37 X 74519690 74519690 + Missense_Mutation SNP A A T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chrX:74519690A>T uc004ecb.1 + 5 812 c.683A>T c.(682-684)GAC>GTC p.D228V UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.D228V|UPRT_uc004ece.1_Missense_Mutation_p.D92V NM_145052 NP_659489 Q96BW1 UPP_HUMAN uracil phosphoribosyltransferase (FUR1) homolog 228 nucleoside metabolic process cytoplasm|nucleus 0 TTCCCCCCAGACATTTACCGG 0.413000 DRP2 1821 broad.mit.edu 37 X 100492725 100492725 + Silent SNP G G T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chrX:100492725G>T uc004egz.2 + 5 768 c.399G>T c.(397-399)GGG>GGT p.G133G DRP2_uc011mrh.1_Silent_p.G55G NM_001939 NP_001930 Q13474 DRP2_HUMAN dystrophin related protein 2 133 Spectrin 1. central nervous system development cytoplasm|cytoskeleton zinc ion binding ovary(2) 2 CCCTACAGGGGGATGTGGCCC 0.507000 ARMCX6 54470 broad.mit.edu 37 X 100871542 100871542 + Silent SNP G G A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chrX:100871542G>A uc004ehx.2 - 3 414 c.69C>T c.(67-69)TGC>TGT p.C23C ARMCX6_uc004ehy.2_Silent_p.C23C NM_019007 NP_061880 Q7L4S7 ARMX6_HUMAN armadillo repeat containing, X-linked 6 23 Helical; (Potential). integral to membrane 0 GTTTGTAAACGCAGTAGCAGG 0.403000 RGAG1 57529 broad.mit.edu 37 X 109696087 109696087 + Missense_Mutation SNP T T A TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chrX:109696087T>A uc004eor.1 + 3 2488 c.2242T>A c.(2242-2244)TCC>ACC p.S748T RGAG1_uc011msr.1_Missense_Mutation_p.S748T NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 748 p.S748Y(1) lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GCAGATGAATTCCCCAACCTC 0.537000 CD40LG 959 broad.mit.edu 37 X 135741371 135741371 + Missense_Mutation SNP C C G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chrX:135741371C>G uc004faa.2 + 5 655 c.583C>G c.(583-585)CTA>GTA p.L195V CD40LG_uc010nsd.2_Missense_Mutation_p.L174V NM_000074 NP_000065 P29965 CD40L_HUMAN CD40 ligand 195 Extracellular (Potential). L -> P (in HIGM1). anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production extracellular space|integral to plasma membrane|soluble fraction CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) Atorvastatin(DB01076) CAGCCTCTGCCTAAAGTCCCC 0.483000 Immune_Deficiency_with_Hyper-IgM CXorf40A 91966 broad.mit.edu 37 X 148627250 148627250 + Missense_Mutation SNP C C T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chrX:148627250C>T uc004fdb.2 + 4 346 c.74C>T c.(73-75)ACG>ATG p.T25M CXorf40A_uc011mxm.1_Missense_Mutation_p.T25M|CXorf40A_uc011mxn.1_Missense_Mutation_p.T25M|CXorf40A_uc004fdd.2_Missense_Mutation_p.T25M|CXorf40A_uc004fde.1_Missense_Mutation_p.T25M|CXorf40A_uc011mxo.1_Silent_p.D114D|CXorf40A_uc004fdg.2_Missense_Mutation_p.T25M|CXorf40A_uc004fdf.2_Missense_Mutation_p.T25M|CXorf40A_uc004fdh.2_Missense_Mutation_p.T25M|CXorf40A_uc010nsy.2_Missense_Mutation_p.T25M|CXorf40A_uc004fdi.2_Missense_Mutation_p.T42M NM_178124 NP_835225 Q8TE69 CX04A_HUMAN chromosome X open reading frame 40 25 protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) ACTGTGGAGACGCGCTGGCGT 0.612000 RPS4Y2 140032 broad.mit.edu 37 Y 22930849 22930849 + Missense_Mutation SNP C C G TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chrY:22930849C>G uc011nbb.1 + 5 615 c.519C>G c.(517-519)ATC>ATG p.I173M NM_001039567 NP_001034656 Q8TD47 RS4Y2_HUMAN ribosomal protein S4, Y-linked 2 173 translation ribosome rRNA binding|structural constituent of ribosome 0 CCAGCTTTATCAAATTTGACA 0.264000 DMBT1 1755 broad.mit.edu 37 10 124396810 124396818 + In_Frame_Del DEL CTGCGGCAC CTGCGGCAC - TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr10:124396810_124396818delCTGCGGCAC uc001lgk.1 + 51 6643_6651 c.6537_6545delCTGCGGCAC c.(6535-6546)GGCTGCGGCACC>GGC p.CGT2180del DMBT1_uc001lgl.1_In_Frame_Del_p.CGT2170del|DMBT1_uc001lgm.1_In_Frame_Del_p.CGT1552del|DMBT1_uc009xzz.1_In_Frame_Del_p.CGT2179del|DMBT1_uc010qtx.1_In_Frame_Del_p.CGT900del|DMBT1_uc009yab.1_In_Frame_Del_p.CGT883del|DMBT1_uc009yac.1_In_Frame_Del_p.CGT474del NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2180_2182 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCTACTCAGGCTGCGGCACCTTCAAGCAG 0.507 GAPDH 2597 broad.mit.edu 37 12 6647143 6647156 + Frame_Shift_Del DEL TTTGTCAAGCTCAT TTTGTCAAGCTCAT - rs11549334 TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr12:6647143_6647156delTTTGTCAAGCTCAT uc001qop.1 + 8 1021_1034 c.919_932delTTTGTCAAGCTCAT c.(919-933)TTTGTCAAGCTCATTfs p.F307fs GAPDH_uc009zep.1_Frame_Shift_Del_p.F265fs|GAPDH_uc001qoq.1_Frame_Shift_Del_p.F232fs|GAPDH_uc001qor.1_Frame_Shift_Del_p.F266fs|GAPDH_uc001qos.1_Frame_Shift_Del_p.F307fs|GAPDH_uc001qot.1_Frame_Shift_Del_p.F307fs|GAPDH_uc001qou.1_Frame_Shift_Del_p.F266fs|GAPDH_uc001qov.1_Frame_Shift_Del_p.F265fs|GAPDH_uc001qow.1_Frame_Shift_Del_p.F260fs|GAPDH_uc001qox.1_Frame_Shift_Del_p.F133fs NM_002046 NP_002037 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 307_311 gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding 0 NADH(DB00157) CAACGACCACTTTGTCAAGCTCATTTCCTGGTAT 0.570 OREG0021628 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GTF2F2 2963 broad.mit.edu 37 13 45694803 45694803 + Frame_Shift_Del DEL G G - TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr13:45694803delG uc001uzw.2 + 1 173 c.13delG c.(13-15)GGGfs p.G5fs GTF2F2_uc001uzv.2_Frame_Shift_Del_p.G5fs NM_004128 NP_004119 P13984 T2FB_HUMAN general transcription factor IIF, polypeptide 2, 5 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction microtubule cytoskeleton|transcription factor TFIIF complex ATP binding|ATP-dependent helicase activity|DNA binding|protein binding 0 Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000647) GGCCGAGCGCGGGGAACTCGA 0.622 FAM181A 90050 broad.mit.edu 37 14 94395422 94395423 + Frame_Shift_Del DEL AG AG - TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr14:94395422_94395423delAG uc001ybz.1 + 3 1284_1285 c.977_978delAG c.(976-978)CAGfs p.Q326fs C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Frame_Shift_Del_p.Q264fs|FAM181A_uc001yca.1_Frame_Shift_Del_p.Q264fs NM_138344 NP_612353 Q8N9Y4 F181A_HUMAN hypothetical protein LOC90050 326 0 GGCCTGGGGCAGAAGGTGTGCA 0.649 BCMO1 53630 broad.mit.edu 37 16 81303874 81303888 + In_Frame_Del DEL CATCGTGTTTGACGT CATCGTGTTTGACGT - rs148824103 TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr16:81303874_81303888delCATCGTGTTTGACGT uc002fgn.1 + 7 1172_1186 c.954_968delCATCGTGTTTGACGT c.(952-969)TGCATCGTGTTTGACGTC>TGC p.IVFDV319del BCMO1_uc010vnp.1_In_Frame_Del_p.IVFDV250del NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 319_323 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity 0 AGGACGGCTGCATCGTGTTTGACGTCATTGCCTAC 0.558 NFE2L1 4779 broad.mit.edu 37 17 46134756 46134757 + Frame_Shift_Ins INS - - C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr17:46134756_46134757insC uc002imz.3 + 5 1515_1516 c.864_865insC c.(862-867)GAGCCCfs p.E288fs NFE2L1_uc002ina.3_Frame_Shift_Ins_p.E258fs|NFE2L1_uc002inb.3_Frame_Shift_Ins_p.E258fs|NFE2L1_uc010wle.1_Frame_Shift_Ins_p.E100fs|NFE2L1_uc010wlf.1_Frame_Shift_Ins_p.E132fs NM_003204 NP_003195 Q14494 NF2L1_HUMAN nuclear factor erythroid 2-like 1 288_289 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity skin(1) 1 GTGAGAGTGAGCCCCCTGCTCT 0.485 TTN 7273 broad.mit.edu 37 2 179437941 179437941 + Frame_Shift_Del DEL A A - TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:179437941delA uc010zfg.1 - 275 65438 c.65214delT c.(65212-65214)AGTfs p.S21738fs uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Frame_Shift_Del_p.S15433fs|TTN_uc010zfi.1_Frame_Shift_Del_p.S15366fs|TTN_uc010zfj.1_Frame_Shift_Del_p.S15241fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22665 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GACTTGGTGCACTAATTCCAG 0.413 TTN 7273 broad.mit.edu 37 2 179571225 179571250 + Frame_Shift_Del DEL CTTCCTTTCATCCACCTGTAAGTTAA CTTCCTTTCATCCACCTGTAAGTTAA - TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:179571225_179571250delCTTCCTTTCATCCACCTGTAAGTTAA uc010zfg.1 - 99 25843_25868 c.25619_25644delTTAACTTACAGGTGGATGAAAGGAAG c.(25618-25644)GTTAACTTACAGGTGGATGAAAGGAAGfs p.V8540fs TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.V5201fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9467_9475 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTCTTGTTTCTTCCTTTCATCCACCTGTAAGTTAACATTACTTTC 0.336 FAM171B 165215 broad.mit.edu 37 2 187627259 187627264 + In_Frame_Del DEL GCATCA GCATCA - TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:187627259_187627264delGCATCA uc002ups.2 + 8 2302_2307 c.2190_2195delGCATCA c.(2188-2196)ATGCATCAG>ATG p.HQ731del FAM171B_uc002upr.1_In_Frame_Del_p.HQ698del|FAM171B_uc002upt.2_In_Frame_Del_p.HQ200del NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 731_732 Cytoplasmic (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 TCAAAAGCATGCATCAGCCCAAGATC 0.481 ZNF148 7707 broad.mit.edu 37 3 124952748 124952748 + Frame_Shift_Del DEL T T - TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr3:124952748delT uc003ehx.3 - 9 1308 c.822delA c.(820-822)AAAfs p.K274fs SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Frame_Shift_Del_p.K274fs|ZNF148_uc010hsa.2_Frame_Shift_Del_p.K274fs|ZNF148_uc003eia.3_Frame_Shift_Del_p.K274fs|ZNF148_uc003ehy.2_Intron NM_021964 NP_068799 Q9UQR1 ZN148_HUMAN zinc finger protein 148 274 C2H2-type 4. cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 GGCACATACGTTTATGTTTCA 0.378 N4BP2 55728 broad.mit.edu 37 4 40104250 40104253 + Frame_Shift_Del DEL TCAA TCAA - TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr4:40104250_40104253delTCAA uc003guy.3 + 4 1123_1126 c.785_788delTCAA c.(784-789)CTCAATfs p.L262fs N4BP2_uc010ifq.2_Frame_Shift_Del_p.L182fs|N4BP2_uc010ifr.2_Frame_Shift_Del_p.L182fs NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 262_263 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 TGTAGCAGTCTCAATCAAAAACAG 0.412 MLL3 58508 broad.mit.edu 37 7 151873650 151873657 + Frame_Shift_Del DEL CGGCCAGG CGGCCAGG - TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr7:151873650_151873657delCGGCCAGG uc003wla.2 - 38 9100_9107 c.8881_8888delCCTGGCCG c.(8881-8889)CCTGGCCGTfs p.P2961fs MLL3_uc003wkz.2_Frame_Shift_Del_p.P2022fs|MLL3_uc003wky.2_Frame_Shift_Del_p.P470fs NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2961_2963 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ATCCAAAACACGGCCAGGCGGTGCTATG 0.495 N medulloblastoma WNK3 65267 broad.mit.edu 37 X 54275887 54275913 + In_Frame_Del DEL TCTTCCACTTGATAAAGTATAGCTGGC TCTTCCACTTGATAAAGTATAGCTGGC - TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chrX:54275887_54275913delTCTTCCACTTGATAAAGTATAGCTGGC uc004dtd.1 - 17 3307_3333 c.2868_2894delGCCAGCTATACTTTATCAAGTGGAAGA c.(2866-2895)CAGCCAGCTATACTTTATCAAGTGGAAGAT>CAT p.956_965QPAILYQVED>H WNK3_uc004dtc.1_In_Frame_Del_p.956_965QPAILYQVED>H NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 956_965 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 CTGCCTGTTATCTTCCACTTGATAAAGTATAGCTGGCTGCTTGGTTT 0.423 JAK1 3716 broad.mit.edu 37 1 65339111 65339112 + Frame_Shift_Ins INS - - T TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr1:65339110_65339111C>CT uc001dbu.1 - 4 674_675 c.425_426G>AG c.(424-426)aagfs p.K142fs JAK1_uc009wam.1_Frame_Shift_Ins_p.K142fs|JAK1_uc001dbv.3_Non-coding_Transcript NM_002227 NP_002218 P23458 JAK1_HUMAN Homo sapiens Janus kinase 1 (JAK1), mRNA. 142 FERM. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity p.K142fs*26(3) breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) CATCTGGAATCTTTTTTTTCTC 0.480 Mis ALL SPTBN1 6711 broad.mit.edu 37 2 54864881 54864881 + Frame_Shift_Del DEL C C - TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:54864880_54864880AC>A uc002rxu.3 + 17 4047 c.3798_3798AC>A c.(3796-3798)gaafs p.E1266fs SPTBN1_uc002rxx.3_Frame_Shift_Del_p.E1253fs NM_003128 NP_003119 Q01082 SPTB2_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA. 1266 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) CAGCCAGTGAACTTTTGATGA 0.348 CASP8 841 broad.mit.edu 37 2 202151284 202151295 + In_Frame_Del DEL ACTAAGAAAAAA ACTAAGAAAAAA - TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr2:202151283_202151294CACTAAGAAAAAA>C uc002uxr.1 + 9 1615_1626 c.1406_1417CACTAAGAAAAAA>C c.(1405-1419)acactaagaaaaaaa>aCaa p.LRKK470del CASP8_uc002uxq.1_In_Frame_Del_p.LRKK455del|CASP8_uc002uxp.1_In_Frame_Del_p.LRKK487del|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_In_Frame_Del_p.LRKK529del|CASP8_uc002uxw.1_In_Frame_Del_p.LRKK455del|CASP8_uc010ftf.2_In_Frame_Del_p.LRKK386del NM_033355 NP_203519 Q14790 CASP8_HUMAN Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA. 470 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding p.K532fs*>7(1)|p.K490fs*>7(1) breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 CCTACTTTCACACTAAGAAAAAAACTTGTCTT 0.410 HNSCC(4;0.00038) HIVEP1 3096 broad.mit.edu 37 6 12121963 12121978 + Frame_Shift_Del DEL GCTACAAAGGCAGCAG GCTACAAAGGCAGCAG - TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr6:12121962_12121977AGCTACAAAGGCAGCAG>A uc003nac.3 + 3 2113_2128 c.1934_1949AGCTACAAAGGCAGCAG>A c.(1933-1950)cagctacaaaggcagcagfs p.Q645fs HIVEP1_uc011diq.2_Non-coding_Transcript NM_002114 NP_002105 P15822 ZEP1_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA. 645 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GTACACGCCCAGCTACAAAGGCAGCAGGCTACCGAT 0.500 HSF1 3297 broad.mit.edu 37 8 145532648 145532662 + In_Frame_Del DEL CAAGTACTTCAAGCA CAAGTACTTCAAGCA - TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr8:145532647_145532661CCAAGTACTTCAAGCA>C uc003zbt.4 + 1 343_357 c.173_187CCAAGTACTTCAAGCA>C c.(172-189)cccaagtacttcaagcac>cCac p.KYFKH59del HSF1_uc003zbu.4_Non-coding_Transcript NM_005526 NP_005517 Q00613 HSF1_HUMAN Homo sapiens heat shock transcription factor 1 (HSF1), mRNA. 59 cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) GAGGTGCTGCCCAAGTACTTCAAGCACAACAACAT 0.628 C8orf33 65265 broad.mit.edu 37 8 146278248 146278248 + Frame_Shift_Del DEL G G - TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr8:146278247_146278247CG>C uc003zfc.4 + 1 336 c.282_282CG>C c.(280-282)ctcfs p.L94fs C8orf33_uc003zfd.3_Non-coding_Transcript NM_023080 NP_075568 Q9H7E9 CH033_HUMAN Homo sapiens chromosome 8 open reading frame 33 (C8orf33), mRNA. 94 endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.243) CAGAGAAACTCGCCCCAGAAG 0.582 ABCA1 19 broad.mit.edu 37 9 107553271 107553278 + Frame_Shift_Del DEL TGATTTTC TGATTTTC - TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr9:107553270_107553277ATGATTTTC>A uc004bcl.3 - 43 6257_6264 c.5853_5860GAAAATCAT>T c.(5851-5862)ggaaaatcatcafs p.G1951fs NM_005502 NP_005493 O95477 ABCA1_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA. 1951 ABC transporter 2. Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTGAAAGTTGATGATTTTCCAGCCCCAT 0.380 WNT1 7471 broad.mit.edu 37 12 49373285 49373285 + Frame_Shift_Del DEL C C - TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr12:49373284_49373284GC>G uc001rsu.3 + 1 336 c.138_138GC>G c.(136-138)ctgfs p.L46fs NM_005430 NP_005421 P04628 WNT1_HUMAN Homo sapiens wingless-type MMTV integration site family, member 1 (WNT1), mRNA. 46 Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of DNA damage checkpoint|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of Notch signaling pathway|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(357;0.244) CCACGAACCTGCTTACAGACT 0.557 NFE2L1 4779 broad.mit.edu 37 17 46134757 46134758 + Frame_Shift_Ins INS - - C TCGA-EQ-A4SO-01A-11D-A25D-08 TCGA-EQ-A4SO-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 150bfa0c-8ae2-4735-acd2-5bb2335b6e21 589cddca-4530-41cd-a340-24518989d830 g.chr17:46134756_46134757G>GC uc002imz.4 + 4 1515_1516 c.864_865G>GC c.(862-867)gagcccfs p.E288fs NFE2L1_uc002ina.4_Frame_Shift_Ins_p.E258fs|NFE2L1_uc002inb.4_Frame_Shift_Ins_p.E258fs|NFE2L1_uc010wle.2_Frame_Shift_Ins_p.E100fs|NFE2L1_uc010wlf.2_Frame_Shift_Ins_p.E132fs NM_003204 NP_003195 Q14494 NF2L1_HUMAN Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA. 288 Asp/Glu-rich (acidic). anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GTGAGAGTGAGCCCCCTGCTCT 0.485