Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter SLC2A7 155184 broad.mit.edu 37 1 9075206 9075206 + Nonsense_Mutation SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:9075206G>A uc009vmo.1 - 6 685 c.685C>T c.(685-687)CAG>TAG p.Q229* NM_207420 NP_997303 Q6PXP3 GTR7_HUMAN intestinal facilitative glucose transporter 7 229 Cytoplasmic (Potential). integral to membrane|plasma membrane sugar transmembrane transporter activity 0 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) TCTCCTTTCTGAATCAGGGAG 0.672 12 17 --- --- --- --- PASS PEX14 5195 broad.mit.edu 37 1 10689653 10689653 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:10689653C>A uc001arn.2 + 9 764 c.743C>A c.(742-744)CCG>CAG p.P248Q PEX14_uc009vmv.2_Missense_Mutation_p.P184Q|PEX14_uc010oam.1_Missense_Mutation_p.P184Q|PEX14_uc010oan.1_Missense_Mutation_p.P205Q|PEX14_uc009vmw.2_Missense_Mutation_p.P184Q NM_004565 NP_004556 O75381 PEX14_HUMAN peroxisomal biogenesis factor 14 248 negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport integral to membrane|nucleus|peroxisomal membrane|protein complex protein N-terminus binding|transcription corepressor activity breast(1) 1 Ovarian(185;0.203) all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419) GTCAAGTCACCGTCACCCTCC 0.642 25 45 --- --- --- --- PASS TNFRSF8 943 broad.mit.edu 37 1 12169625 12169625 + Missense_Mutation SNP A C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:12169625A>C uc001atq.2 + 5 646 c.424A>C c.(424-426)ACG>CCG p.T142P TNFRSF8_uc010obc.1_Missense_Mutation_p.T31P NM_001243 NP_001234 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, 142 TNFR-Cys 3.|Extracellular (Potential). cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1) 5 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) CCCTGCAGGCACGGCGCAGAA 0.627 14 43 --- --- --- --- PASS KIF17 57576 broad.mit.edu 37 1 21031088 21031088 + Silent SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:21031088C>T uc001bdr.3 - 5 1093 c.975G>A c.(973-975)ACG>ACA p.T325T KIF17_uc001bds.3_Silent_p.T325T NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 325 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CGTAGCGCAGCGTGCTGAGTG 0.607 27 71 --- --- --- --- PASS EIF2C1 26523 broad.mit.edu 37 1 36358709 36358709 + Missense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:36358709G>T uc001bzl.2 + 4 555 c.342G>T c.(340-342)GAG>GAT p.E114D EIF2C1_uc001bzk.2_Missense_Mutation_p.E39D|EIF2C1_uc009vuy.2_5'Flank NM_012199 NP_036331 Q9UL18 AGO1_HUMAN eukaryotic translation initiation factor 2C, 1 114 negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome protein binding|RNA binding ovary(2)|skin(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCGACTTTGAGGTGACAATCC 0.512 14 23 --- --- --- --- PASS GNL2 29889 broad.mit.edu 37 1 38034731 38034731 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:38034731C>A uc001cbk.2 - 13 1752 c.1589G>T c.(1588-1590)CGG>CTG p.R530L NM_013285 NP_037417 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 530 ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(586;0.0393) AAAGTTCTGCCGAACTCGTGT 0.468 32 72 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39797158 39797158 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:39797158C>T uc010oiu.1 + 1 349 c.218C>T c.(217-219)TCT>TTT p.S73F MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1638 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGCCCTCTTTCTGTGGTGGAA 0.488 37 48 --- --- --- --- PASS CTTNBP2NL 55917 broad.mit.edu 37 1 112999476 112999476 + Silent SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:112999476G>A uc001ebx.2 + 6 1590 c.1362G>A c.(1360-1362)GGG>GGA p.G454G CTTNBP2NL_uc001ebz.2_RNA NM_018704 NP_061174 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 454 actin cytoskeleton protein binding central_nervous_system(2)|ovary(1) 3 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACCAAGTAGGGATCAACCAAC 0.527 72 117 --- --- --- --- PASS ATP1A1 476 broad.mit.edu 37 1 116933482 116933482 + Missense_Mutation SNP A G G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:116933482A>G uc001ege.2 + 10 1640 c.1301A>G c.(1300-1302)CAG>CGG p.Q434R ATP1A1_uc010owv.1_Missense_Mutation_p.Q403R|ATP1A1_uc010oww.1_Missense_Mutation_p.Q434R|ATP1A1_uc010owx.1_Missense_Mutation_p.Q403R NM_000701 NP_000692 P05023 AT1A1_HUMAN Na+/K+ -ATPase alpha 1 subunit isoform a 434 Cytoplasmic (Potential). ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity ovary(1) 1 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) GCAGTGTTTCAGGCTAACCAG 0.438 3 125 --- --- --- --- PASS HMGCS2 3158 broad.mit.edu 37 1 120302554 120302554 + Silent SNP A G G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:120302554A>G uc001eid.2 - 3 669 c.618T>C c.(616-618)CGT>CGC p.R206R HMGCS2_uc010oxj.1_Intron|HMGCS2_uc001eie.2_Silent_p.R114R NM_005518 NP_005509 P54868 HMCS2_HUMAN hydroxymethylglutaryl-CoA synthase 2 isoform 1 206 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity ovary(2) 2 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) CACCTGTGGGACGAGCATTAC 0.517 25 38 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144873951 144873951 + Missense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:144873951G>T uc001elw.3 - 31 5297 c.5006C>A c.(5005-5007)GCC>GAC p.A1669D NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.A1625D|PDE4DIP_uc001elv.3_Missense_Mutation_p.A676D NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1669 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTTGGATTCGGCCTTAGCCCC 0.498 T PDGFRB MPD 133 480 --- --- --- --- PASS FCGR1A 2209 broad.mit.edu 37 1 149763061 149763061 + Silent SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:149763061G>A uc001esp.3 + 6 1163 c.1113G>A c.(1111-1113)CAG>CAA p.Q371Q HIST2H2BF_uc010pbj.1_Intron|FCGR1A_uc009wlg.2_RNA NM_000566 NP_000557 P12314 FCGR1_HUMAN Fc fragment of IgG, high affinity Ia, receptor 371 Cytoplasmic (Potential). interferon-gamma-mediated signaling pathway|phagocytosis, engulfment integral to membrane|plasma membrane IgG binding|receptor activity|receptor signaling protein activity ovary(1) 1 Breast(34;0.0124)|all_hematologic(923;0.127) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGGAGCCCCAGGGGGCCACGT 0.547 6 26 --- --- --- --- PASS RORC 6097 broad.mit.edu 37 1 151787643 151787643 + Missense_Mutation SNP T A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:151787643T>A uc001ezh.2 - 5 665 c.557A>T c.(556-558)TAT>TTT p.Y186F RORC_uc001ezg.2_Missense_Mutation_p.Y165F|RORC_uc010pdo.1_Missense_Mutation_p.Y240F|RORC_uc010pdp.1_Missense_Mutation_p.Y186F NM_005060 NP_005051 P51449 RORG_HUMAN RAR-related orphan receptor C isoform a 186 Hinge (Potential). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GTTGTTGGAATATGAGGGCCC 0.632 13 18 --- --- --- --- PASS KIAA0907 22889 broad.mit.edu 37 1 155899625 155899625 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:155899625C>A uc001fmi.1 - 3 286 c.262G>T c.(262-264)GCT>TCT p.A88S KIAA0907_uc001fmj.1_Missense_Mutation_p.A88S|KIAA0907_uc009wrk.1_Missense_Mutation_p.A88S|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.A88S|KIAA0907_uc001fmm.2_Missense_Mutation_p.A88S|KIAA0907_uc001fmo.2_Missense_Mutation_p.A88S NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN hypothetical protein LOC22889 88 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTGCCAGGAGCCTGAAGCTAG 0.299 12 25 --- --- --- --- PASS IGSF9 57549 broad.mit.edu 37 1 159901605 159901605 + Silent SNP G C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:159901605G>C uc001fur.2 - 11 1557 c.1359C>G c.(1357-1359)ACC>ACG p.T453T IGSF9_uc001fuq.2_Silent_p.T437T|IGSF9_uc001fup.2_5'UTR NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 453 Ig-like 5.|Extracellular (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GCCTTACCTTGGTCCAAGAGA 0.607 12 22 --- --- --- --- PASS TMCO1 54499 broad.mit.edu 37 1 165723478 165723478 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:165723478C>A uc001gdj.3 - 4 391 c.242G>T c.(241-243)AGA>ATA p.R81I TMCO1_uc001gdl.3_5'UTR|TMCO1_uc001gdm.3_5'UTR|TMCO1_uc001gdk.3_Missense_Mutation_p.R69I|TMCO1_uc001gdn.3_RNA NM_019026 NP_061899 Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 81 Potential. endoplasmic reticulum membrane|Golgi membrane|integral to membrane central_nervous_system(1) 1 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) TGATAGATCTCTGTTGTTATT 0.338 25 43 --- --- --- --- PASS FMO1 2326 broad.mit.edu 37 1 171236736 171236736 + Missense_Mutation SNP T A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:171236736T>A uc009wvz.2 + 3 323 c.187T>A c.(187-189)TGC>AGC p.C63S FMO1_uc010pme.1_Intron|FMO1_uc001ghl.2_Missense_Mutation_p.C63S|FMO1_uc001ghm.2_Missense_Mutation_p.C63S|FMO1_uc001ghn.2_Missense_Mutation_p.C63S NM_002021 NP_002012 Q01740 FMO1_HUMAN flavin containing monooxygenase 1 63 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTCCAACAGCTGCAAGGAGAT 0.403 37 67 --- --- --- --- PASS RALGPS2 55103 broad.mit.edu 37 1 178848052 178848052 + Missense_Mutation SNP C G G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:178848052C>G uc001glz.2 + 10 1099 c.761C>G c.(760-762)CCT>CGT p.P254R RALGPS2_uc001gly.1_Missense_Mutation_p.P254R|RALGPS2_uc010pnb.1_Missense_Mutation_p.P254R NM_152663 NP_689876 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 254 Ras-GEF. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding 0 CCCATGTTGCCTCATGTCCAA 0.303 8 19 --- --- --- --- PASS LAMC1 3915 broad.mit.edu 37 1 183087214 183087214 + Silent SNP T C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:183087214T>C uc001gpy.3 + 11 2180 c.1923T>C c.(1921-1923)CCT>CCC p.P641P NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 641 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCTTACCCCTTTTGAATTTC 0.418 3 150 --- --- --- --- PASS LAMC2 3918 broad.mit.edu 37 1 183204743 183204743 + Silent SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:183204743G>A uc001gqa.2 + 16 2648 c.2334G>A c.(2332-2334)CTG>CTA p.L778L LAMC2_uc001gpz.3_Silent_p.L778L|LAMC2_uc010poa.1_Silent_p.L478L NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 778 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 TGGAGCAACTGACAAGGGAAA 0.498 OREG0014042 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 24 --- --- --- --- PASS ADIPOR1 51094 broad.mit.edu 37 1 202911228 202911228 + Silent SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:202911228C>A uc001gyq.3 - 7 1191 c.924G>T c.(922-924)GTG>GTT p.V308V ADIPOR1_uc010pqd.1_Silent_p.V232V|ADIPOR1_uc001gyr.3_Silent_p.V107V|ADIPOR1_uc001gys.3_Silent_p.V308V NM_015999 NP_057083 Q96A54 ADR1_HUMAN adiponectin receptor 1 308 Helical; Name=6; (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity 0 BRCA - Breast invasive adenocarcinoma(75;0.141) TGATGTACATCACAGCCATGA 0.512 35 120 --- --- --- --- PASS CR2 1380 broad.mit.edu 37 1 207646198 207646198 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:207646198C>T uc001hfw.2 + 10 1746 c.1652C>T c.(1651-1653)ACG>ATG p.T551M CR2_uc001hfv.2_Missense_Mutation_p.T551M|CR2_uc009xch.2_Missense_Mutation_p.T551M|CR2_uc009xci.1_Missense_Mutation_p.T36M NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 551 Sushi 9.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 TATGGAACCACGGTCACTTAC 0.478 50 40 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216062176 216062176 + Silent SNP T C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:216062176T>C uc001hku.1 - 41 8202 c.7815A>G c.(7813-7815)TCA>TCG p.S2605S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2605 Fibronectin type-III 12.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AACATCCTTTTGAAGTGCAGG 0.483 HNSCC(13;0.011) 45 35 --- --- --- --- PASS MIA3 375056 broad.mit.edu 37 1 222801365 222801365 + Missense_Mutation SNP A G G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:222801365A>G uc001hnl.2 + 4 812 c.803A>G c.(802-804)AAA>AGA p.K268R MIA3_uc009xea.1_Missense_Mutation_p.K104R NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 268 Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) AAACTTTTGAAAAAAGAAATG 0.353 22 80 --- --- --- --- PASS MIA3 375056 broad.mit.edu 37 1 222835656 222835656 + Silent SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:222835656G>A uc001hnl.2 + 26 5253 c.5244G>A c.(5242-5244)AGG>AGA p.R1748R MIA3_uc001hnm.2_Silent_p.R626R NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1748 Pro-rich.|Cytoplasmic (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) CCCCTACCAGGGTACTCGATG 0.428 71 213 --- --- --- --- PASS KIAA1804 84451 broad.mit.edu 37 1 233497881 233497881 + Missense_Mutation SNP A T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:233497881A>T uc001hvt.3 + 5 1655 c.1394A>T c.(1393-1395)CAG>CTG p.Q465L KIAA1804_uc001hvs.1_Missense_Mutation_p.Q465L NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN mixed lineage kinase 4 465 Leucine-zipper 2. activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity lung(5)|central_nervous_system(2)|skin(1) 8 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) CGGCGTGAGCAGCAGCTGGCA 0.577 19 14 --- --- --- --- PASS TARBP1 6894 broad.mit.edu 37 1 234534202 234534202 + Missense_Mutation SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:234534202G>A uc001hwd.2 - 26 4169 c.4169C>T c.(4168-4170)GCG>GTG p.A1390V NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 1390 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) CTGAAATCCCGCAGCTAAAGG 0.363 27 52 --- --- --- --- PASS OR2W3 343171 broad.mit.edu 37 1 248059182 248059182 + Silent SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:248059182C>T uc001idp.1 + 3 563 c.294C>T c.(292-294)GCC>GCT p.A98A OR2W3_uc010pzb.1_Silent_p.A98A NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGGGCTGTGCCATCCAGCTCT 0.562 35 84 --- --- --- --- PASS PLEKHH2 130271 broad.mit.edu 37 2 43968158 43968158 + Missense_Mutation SNP A C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr2:43968158A>C uc010yny.1 + 21 3280 c.3197A>C c.(3196-3198)CAC>CCC p.H1066P PLEKHH2_uc002rtf.3_Missense_Mutation_p.H1065P NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 1066 MyTH4. cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) CTCAGGCTTCACCTAAAGAGG 0.498 35 33 --- --- --- --- PASS STON1-GTF2A1L 286749 broad.mit.edu 37 2 48808979 48808979 + Missense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr2:48808979G>T uc010yol.1 + 1 1254 c.1207G>T c.(1207-1209)GTT>TTT p.V403F STON1_uc002rwo.3_Missense_Mutation_p.V403F|STON1_uc010fbm.2_Missense_Mutation_p.V403F|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.V403F|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.V403F NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 403 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GTTGCCAGCTGTTTCAAAACC 0.423 21 39 --- --- --- --- PASS KDM3A 55818 broad.mit.edu 37 2 86711188 86711188 + Nonsense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr2:86711188G>T uc002sri.3 + 19 3328 c.3001G>T c.(3001-3003)GAG>TAG p.E1001* KDM3A_uc010ytj.1_Nonsense_Mutation_p.E1001*|KDM3A_uc010ytk.1_Nonsense_Mutation_p.E949* NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN jumonji domain containing 1A 1001 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 5 AGAGTTTGGTGAGCAGGAAGT 0.413 4 68 --- --- --- --- PASS UBXN4 23190 broad.mit.edu 37 2 136519470 136519470 + Silent SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr2:136519470C>T uc002tur.2 + 6 902 c.591C>T c.(589-591)ATC>ATT p.I197I UBXN4_uc002tus.2_Intron NM_014607 NP_055422 Q92575 UBXN4_HUMAN UBX domain containing 2 197 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding skin(2) 2 ACCTCAACATCCGAGTGGAAA 0.373 20 54 --- --- --- --- PASS CXCR4 7852 broad.mit.edu 37 2 136873097 136873097 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr2:136873097C>A uc002tuz.2 - 2 496 c.401G>T c.(400-402)CGC>CTC p.R134L CXCR4_uc002tuy.2_Missense_Mutation_p.R138L|CXCR4_uc010fnk.2_Missense_Mutation_p.R119L NM_003467 NP_003458 P61073 CXCR4_HUMAN chemokine (C-X-C motif) receptor 4 isoform b 134 Important for signaling.|Cytoplasmic. R->A: Loss of agonist-induced G-protein activation. activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding upper_aerodigestive_tract(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.155) Framycetin(DB00452) GGCCAGGTAGCGGTCCAGACT 0.547 27 117 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141202195 141202195 + Missense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr2:141202195G>T uc002tvj.1 - 64 11083 c.10111C>A c.(10111-10113)CTA>ATA p.L3371I NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3371 Extracellular (Potential).|LDL-receptor class A 22. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAAGCTGGTAGAGCACAGAGT 0.418 TSP Lung(27;0.18) 16 48 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141253313 141253313 + Missense_Mutation SNP T C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr2:141253313T>C uc002tvj.1 - 56 9827 c.8855A>G c.(8854-8856)AAA>AGA p.K2952R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2952 Extracellular (Potential).|EGF-like 6. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGGCCAGCATTTGCACTGGGA 0.383 TSP Lung(27;0.18) 10 26 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141299461 141299461 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr2:141299461C>T uc002tvj.1 - 44 8246 c.7274G>A c.(7273-7275)AGA>AAA p.R2425K NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2425 Extracellular (Potential).|LDL-receptor class B 27. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TATAGCTCTTCTTCCCCAGTC 0.408 TSP Lung(27;0.18) 12 76 --- --- --- --- PASS ARL6IP6 151188 broad.mit.edu 37 2 153575168 153575168 + Silent SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr2:153575168G>A uc002tyn.2 + 1 746 c.30G>A c.(28-30)TCG>TCA p.S10S ARL6IP6_uc002tym.2_Intron|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_5'Flank|PRPF40A_uc010zcd.1_5'Flank|PRPF40A_uc002tyi.2_5'Flank|PRPF40A_uc002tyj.2_5'Flank|PRPF40A_uc002tyl.1_5'Flank NM_152522 NP_689735 Q8N6S5 AR6P6_HUMAN ADP-ribosylation-like factor 6 interacting 10 integral to membrane 0 GGTGGCGGTCGGCTCTGCGGC 0.692 43 39 --- --- --- --- PASS GALNT13 114805 broad.mit.edu 37 2 155158018 155158018 + Missense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr2:155158018G>T uc002tyr.3 + 9 1639 c.1072G>T c.(1072-1074)GGT>TGT p.G358C GALNT13_uc002tyt.3_Missense_Mutation_p.G358C|GALNT13_uc010foc.1_Missense_Mutation_p.G177C|GALNT13_uc010fod.2_Missense_Mutation_p.G111C NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 358 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 TGGTGGCACTGGTCATGTCAT 0.438 82 111 --- --- --- --- PASS KCNH7 90134 broad.mit.edu 37 2 163291882 163291882 + Missense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr2:163291882G>T uc002uch.1 - 8 1992 c.1780C>A c.(1780-1782)CAA>AAA p.Q594K KCNH7_uc002uci.2_Missense_Mutation_p.Q587K NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 594 Extracellular (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) TTCCCAATTTGCTGTCCTAAG 0.433 20 104 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216259272 216259272 + Missense_Mutation SNP T C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr2:216259272T>C uc002vfa.2 - 24 4041 c.3775A>G c.(3775-3777)ATC>GTC p.I1259V FN1_uc002vfb.2_Missense_Mutation_p.I1259V|FN1_uc002vfc.2_Missense_Mutation_p.I1259V|FN1_uc002vfd.2_Missense_Mutation_p.I1259V|FN1_uc002vfe.2_Missense_Mutation_p.I1259V|FN1_uc002vff.2_Missense_Mutation_p.I1259V|FN1_uc002vfg.2_Missense_Mutation_p.I1259V|FN1_uc002vfh.2_Missense_Mutation_p.I1259V|FN1_uc002vfi.2_Missense_Mutation_p.I1259V|FN1_uc002vfj.2_Missense_Mutation_p.I1259V|FN1_uc002vez.2_5'Flank|FN1_uc010zjp.1_5'Flank NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 1259 Fibronectin type-III 7. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTATCAGAGATAGGGACACTT 0.453 49 97 --- --- --- --- PASS WDFY1 57590 broad.mit.edu 37 2 224809975 224809975 + Silent SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr2:224809975C>T uc002vnq.2 - 1 78 c.27G>A c.(25-27)CCG>CCA p.P9P NM_020830 NP_065881 Q8IWB7 WDFY1_HUMAN WD repeat and FYVE domain containing 1 9 cytosol|early endosome|nucleus 1-phosphatidylinositol binding|zinc ion binding lung(1) 1 all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843) GGCTGCTCTGCGGCCTGGAGT 0.726 12 26 --- --- --- --- PASS SLC25A38 54977 broad.mit.edu 37 3 39433022 39433022 + Missense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr3:39433022G>T uc003cjo.2 + 4 768 c.367G>T c.(367-369)GCC>TCC p.A123S NM_017875 NP_060345 Q96DW6 S2538_HUMAN solute carrier family 25, member 38 123 Solcar 2. erythrocyte differentiation|heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TCCCCCAACCGCCCTGGAGTC 0.527 155 158 --- --- --- --- PASS MAGI1 9223 broad.mit.edu 37 3 65342127 65342127 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr3:65342127C>A uc003dmn.2 - 23 4841 c.4315G>T c.(4315-4317)GGC>TGC p.G1439C MAGI1_uc003dmm.2_3'UTR NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 1468 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GAACTTCTGCCGGCATCCTGT 0.557 154 48 --- --- --- --- PASS C3orf38 285237 broad.mit.edu 37 3 88205461 88205461 + Silent SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr3:88205461G>A uc003dqw.2 + 4 977 c.666G>A c.(664-666)CTG>CTA p.L222L NM_173824 NP_776185 Q5JPI3 CC038_HUMAN hypothetical protein LOC285237 222 apoptosis 0 Lung NSC(201;0.17) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) CACATGGACTGAAATGTGCAT 0.433 27 241 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108182048 108182048 + Missense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr3:108182048G>T uc003dxa.1 - 17 1891 c.1834C>A c.(1834-1836)CTC>ATC p.L612I NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 612 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 TCATTAAGGAGGTCTTTGTTC 0.373 34 149 --- --- --- --- PASS SIDT1 54847 broad.mit.edu 37 3 113329993 113329993 + Splice_Site SNP T C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr3:113329993T>C uc003eak.2 + 18 2508 c.1857_splice c.e18+2 p.V619_splice SIDT1_uc011bif.1_Splice_Site|SIDT1_uc003eaj.1_Splice_Site_p.V619_splice|SIDT1_uc011big.1_Splice_Site_p.V372_splice|SIDT1_uc011bih.1_Splice_Site|SIDT1_uc011bii.1_Splice_Site_p.V72_splice NM_017699 NP_060169 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 precursor integral to membrane ovary(3)|pancreas(1)|skin(1) 5 CTTGGAGTGGTGCGTCCCCCA 0.463 32 79 --- --- --- --- PASS PLOD2 5352 broad.mit.edu 37 3 145828223 145828223 + Missense_Mutation SNP T C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr3:145828223T>C uc003evs.1 - 4 857 c.351A>G c.(349-351)ATA>ATG p.I117M PLOD2_uc011bnm.1_Missense_Mutation_p.I62M|PLOD2_uc003evr.1_Missense_Mutation_p.I117M NM_000935 NP_000926 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 117 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Vitamin C(DB00126) CACCAGCAAATATGACATCAA 0.358 18 109 --- --- --- --- PASS FETUB 26998 broad.mit.edu 37 3 186362564 186362564 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr3:186362564C>T uc010hyq.2 + 5 710 c.449C>T c.(448-450)ACG>ATG p.T150M FETUB_uc011brz.1_Missense_Mutation_p.T2M|FETUB_uc003fqn.2_Missense_Mutation_p.T150M|FETUB_uc003fqo.2_Missense_Mutation_p.T45M|FETUB_uc010hyr.2_Missense_Mutation_p.T113M|FETUB_uc010hys.2_Missense_Mutation_p.T2M|FETUB_uc003fqp.3_Missense_Mutation_p.T85M NM_014375 NP_055190 Q9UGM5 FETUB_HUMAN fetuin B precursor 150 Cystatin fetuin-B-type 2. extracellular space cysteine-type endopeptidase inhibitor activity ovary(1)|lung(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) ATTTACATGACGTGCCCTGAC 0.393 26 154 --- --- --- --- PASS OSTN 344901 broad.mit.edu 37 3 190936651 190936651 + Missense_Mutation SNP A G G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr3:190936651A>G uc011bsn.1 + 2 218 c.218A>G c.(217-219)AAT>AGT p.N73S NM_198184 NP_937827 P61366 OSTN_HUMAN osteocrin precursor 73 cell differentiation|multicellular organismal development|ossification hormone activity pancreas(1)|skin(1) 2 all_cancers(143;6.79e-09)|Ovarian(172;0.103) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000254) TCCCTAGAAAATGATGTGATT 0.453 91 41 --- --- --- --- PASS RNF168 165918 broad.mit.edu 37 3 196229779 196229779 + Missense_Mutation SNP T C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr3:196229779T>C uc003fwq.2 - 1 804 c.266A>G c.(265-267)AAG>AGG p.K89R RNF168_uc010iah.2_5'UTR NM_152617 NP_689830 Q8IYW5 RN168_HUMAN ring finger protein 168 89 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) CGCTCTAAGCTTGCACTCCCT 0.493 22 104 --- --- --- --- PASS MFI2 4241 broad.mit.edu 37 3 196754761 196754761 + Missense_Mutation SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr3:196754761G>A uc003fxk.3 - 2 183 c.70C>T c.(70-72)CGG>TGG p.R24W MFI2_uc003fxl.3_Missense_Mutation_p.R24W|MFI2_uc011bua.1_Missense_Mutation_p.R24W NM_005929 NP_005920 P08582 TRFM_HUMAN melanoma-associated antigen p97 isoform 1 24 Antigenic epitope.|Transferrin-like 1. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding 0 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) GCGCACCACCGCACCTCCATG 0.726 9 20 --- --- --- --- PASS FYTTD1 84248 broad.mit.edu 37 3 197505234 197505234 + Missense_Mutation SNP A G G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr3:197505234A>G uc003fyi.2 + 8 976 c.757A>G c.(757-759)ACT>GCT p.T253A FYTTD1_uc011bui.1_Missense_Mutation_p.T227A|FYTTD1_uc011buj.1_RNA|FYTTD1_uc011buk.1_Missense_Mutation_p.T186A NM_032288 NP_115664 Q96QD9 UIF_HUMAN forty-two-three domain containing 1 isoform 1 253 mRNA export from nucleus nuclear speck mRNA binding|protein binding 0 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.175) ATTAACTCGTACTGCTGTACC 0.353 15 69 --- --- --- --- PASS KLB 152831 broad.mit.edu 37 4 39436232 39436232 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr4:39436232C>T uc003gua.2 + 2 1325 c.1228C>T c.(1228-1230)CCT>TCT p.P410S KLB_uc011byj.1_Missense_Mutation_p.P410S NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 410 Extracellular (Potential).|Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 ATACAACAACCCTCGAATCTT 0.428 37 15 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66189898 66189898 + Silent SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr4:66189898C>T uc003hcy.2 - 18 3241 c.3048G>A c.(3046-3048)CAG>CAA p.Q1016Q EPHA5_uc003hcx.2_Silent_p.Q948Q|EPHA5_uc003hcz.2_Silent_p.Q994Q|EPHA5_uc011cah.1_Silent_p.Q1017Q|EPHA5_uc011cai.1_Silent_p.Q995Q NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 1016 Cytoplasmic (Potential).|SAM. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TGATCTTCTTCTGGTGACCGA 0.418 TSP Lung(17;0.13) 24 123 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66231713 66231713 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr4:66231713C>A uc003hcy.2 - 11 2180 c.1987G>T c.(1987-1989)GTC>TTC p.V663F EPHA5_uc003hcx.2_Missense_Mutation_p.V595F|EPHA5_uc003hcz.2_Missense_Mutation_p.V641F|EPHA5_uc011cah.1_Missense_Mutation_p.V664F|EPHA5_uc011cai.1_Missense_Mutation_p.V642F|EPHA5_uc003hda.2_Missense_Mutation_p.V664F NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 663 Cytoplasmic (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 AATTCGTGGACAGCTTGATTG 0.363 TSP Lung(17;0.13) 78 76 --- --- --- --- PASS ANTXR2 118429 broad.mit.edu 37 4 80929677 80929677 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr4:80929677C>A uc003hlz.3 - 12 1802 c.1039G>T c.(1039-1041)GTG>TTG p.V347L ANTXR2_uc003hly.3_Missense_Mutation_p.V347L|ANTXR2_uc003hlx.1_RNA|ANTXR2_uc010ijn.2_Missense_Mutation_p.V244L NM_001145794 NP_001139266 P58335 ANTR2_HUMAN anthrax toxin receptor 2 isoform 2 347 Cytoplasmic (Potential). endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity ovary(1) 1 TTACTCACCACTTTGCAGCAA 0.378 Juvenile_Hyaline_Fibromatosis 35 30 --- --- --- --- PASS PTPN13 5783 broad.mit.edu 37 4 87706382 87706382 + Splice_Site SNP A T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr4:87706382A>T uc003hpz.2 + 39 6599 c.6119_splice c.e39-2 p.E2040_splice PTPN13_uc003hpy.2_Splice_Site_p.E2045_splice|PTPN13_uc003hqa.2_Splice_Site_p.E2021_splice|PTPN13_uc003hqb.2_Splice_Site_p.E1849_splice|PTPN13_uc003hqc.1_Splice_Site_p.E406_splice NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TTATTTTTCAAGAATCTTATA 0.338 13 14 --- --- --- --- PASS NDST3 9348 broad.mit.edu 37 4 118975203 118975203 + Silent SNP G A A rs145505386 TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr4:118975203G>A uc003ibx.2 + 2 541 c.138G>A c.(136-138)ACG>ACA p.T46T NDST3_uc011cgf.1_Silent_p.T46T|NDST3_uc003ibw.2_Silent_p.T46T NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 46 Lumenal (Potential).|Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 TCTCTGAGACGGCTTCAGAAG 0.443 102 160 --- --- --- --- PASS QRFPR 84109 broad.mit.edu 37 4 122254006 122254006 + Missense_Mutation SNP A G G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr4:122254006A>G uc010inj.1 - 4 1146 c.767T>C c.(766-768)ATT>ACT p.I256T QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Intron NM_198179 NP_937822 Q96P65 QRFPR_HUMAN G protein-coupled receptor 103 256 Cytoplasmic (Potential). VILFLLPLMVMLILYSKIGYELWIKKRVGDGSVLRTIHGKE MSKIAR -> SSSSSCLLW (in Ref. 1; AAL26488). plasma membrane neuropeptide Y receptor activity 0 TTTTCCATGAATAGTTCGAAG 0.358 46 73 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126411435 126411435 + Silent SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr4:126411435G>T uc003ifj.3 + 17 13458 c.13458G>T c.(13456-13458)GGG>GGT p.G4486G FAT4_uc011cgp.1_Silent_p.G2727G|FAT4_uc003ifi.1_Silent_p.G1963G NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4486 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GTCCTGCGGGGCATGTCTGTG 0.622 64 77 --- --- --- --- PASS GUCY1A3 2982 broad.mit.edu 37 4 156651265 156651265 + Missense_Mutation SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr4:156651265G>A uc003iov.2 + 11 2491 c.1955G>A c.(1954-1956)GGA>GAA p.G652E GUCY1A3_uc003iow.2_Missense_Mutation_p.G652E|GUCY1A3_uc010iqd.2_Missense_Mutation_p.G651E|GUCY1A3_uc003iox.2_Missense_Mutation_p.G652E|GUCY1A3_uc003ioz.2_Missense_Mutation_p.G417E|GUCY1A3_uc003ioy.2_Missense_Mutation_p.G652E|GUCY1A3_uc010iqe.2_Missense_Mutation_p.G417E|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.G652E NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 652 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GAAATCCCCGGAATCTGCCAT 0.403 23 136 --- --- --- --- PASS LOC285501 285501 broad.mit.edu 37 4 178882052 178882052 + RNA SNP T C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr4:178882052T>C uc010iru.2 + 3 c.515T>C NR_028342 Homo sapiens cDNA clone IMAGE:4828874. 0 all_lung(41;6.03e-08)|Lung NSC(41;4.26e-07)|Breast(14;0.00066)|Melanoma(52;0.00168)|Prostate(90;0.0129)|all_hematologic(60;0.0202)|Renal(120;0.0246)|Colorectal(36;0.0508)|Hepatocellular(41;0.236) all cancers(43;9.24e-25)|Epithelial(43;6.28e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.29e-10)|LUSC - Lung squamous cell carcinoma(1;2.61e-05)|Lung(1;3.22e-05)|GBM - Glioblastoma multiforme(59;0.000185)|Colorectal(24;0.000244)|STAD - Stomach adenocarcinoma(60;0.000777)|COAD - Colon adenocarcinoma(29;0.000884) TTATGCAATCTGGAAAAAGTA 0.313 76 81 --- --- --- --- PASS SLC6A3 6531 broad.mit.edu 37 5 1422092 1422092 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr5:1422092C>T uc003jck.2 - 5 812 c.691G>A c.(691-693)GAC>AAC p.D231N NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 231 Extracellular (Potential). cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) CCCAGGTCGTCGATGCCATGG 0.652 24 159 --- --- --- --- PASS TRIO 7204 broad.mit.edu 37 5 14330959 14330959 + Missense_Mutation SNP C G G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr5:14330959C>G uc003jff.2 + 10 1810 c.1804C>G c.(1804-1806)CGG>GGG p.R602G TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.R553G|TRIO_uc003jfh.1_Missense_Mutation_p.R251G NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 602 Spectrin 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) ATCTCTTCATCGGGCCAGAGC 0.428 36 216 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 32088280 32088280 + Missense_Mutation SNP G A A rs138759971 TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr5:32088280G>A uc003jhl.2 + 20 5114 c.4726G>A c.(4726-4728)GGC>AGC p.G1576S PDZD2_uc003jhm.2_Missense_Mutation_p.G1576S NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 1576 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 TGCCAGGGACGGCTGGTCCCC 0.557 31 196 --- --- --- --- PASS PLCXD3 345557 broad.mit.edu 37 5 41382419 41382419 + Missense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr5:41382419G>T uc003jmm.1 - 2 423 c.321C>A c.(319-321)GAC>GAA p.D107E NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 107 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 AGAGTTCATTGTCGGGGTCTC 0.443 57 132 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45645701 45645701 + Nonsense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr5:45645701C>T uc003jok.2 - 2 460 c.435G>A c.(433-435)TGG>TGA p.W145* NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 145 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TTATTAAATCCCAGTAAAACC 0.308 40 107 --- --- --- --- PASS MAP3K1 4214 broad.mit.edu 37 5 56177955 56177955 + Silent SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr5:56177955C>T uc003jqw.3 + 14 3429 c.2928C>T c.(2926-2928)TCC>TCT p.S976S NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 976 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) CTCATCATTCCCAATTAATGT 0.413 6 133 --- --- --- --- PASS MAP1B 4131 broad.mit.edu 37 5 71491801 71491801 + Silent SNP C A A rs144157105 TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr5:71491801C>A uc003kbw.3 + 5 2860 c.2619C>A c.(2617-2619)GTC>GTA p.V873V MAP1B_uc010iyw.1_Silent_p.V890V|MAP1B_uc010iyx.1_Silent_p.V747V|MAP1B_uc010iyy.1_Silent_p.V747V NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 873 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CTGAGCCAGTCGAAGCCTACG 0.502 112 42 --- --- --- --- PASS FCHO2 115548 broad.mit.edu 37 5 72359685 72359685 + Missense_Mutation SNP C G G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr5:72359685C>G uc003kcl.2 + 18 1479 c.1363C>G c.(1363-1365)CTT>GTT p.L455V FCHO2_uc011csl.1_Missense_Mutation_p.L422V|FCHO2_uc010izb.2_5'UTR|FCHO2_uc011csn.1_5'UTR NM_138782 NP_620137 Q0JRZ9 FCHO2_HUMAN FCH domain only 2 isoform a 455 Ser-rich. ovary(1) 1 Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;4.6e-53) CACAACTCCTCTTTCTGTAGG 0.423 7 18 --- --- --- --- PASS ACOT12 134526 broad.mit.edu 37 5 80639988 80639988 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr5:80639988C>T uc003khl.3 - 9 1026 c.971G>A c.(970-972)CGC>CAC p.R324H RNU5E_uc011cto.1_Intron NM_130767 NP_570123 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 324 acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity ovary(1)|kidney(1) 2 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) CCTGCCTAGGCGAATTCGCTT 0.353 34 44 --- --- --- --- PASS DUSP22 56940 broad.mit.edu 37 6 311944 311944 + Missense_Mutation SNP T G G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr6:311944T>G uc003msx.2 + 3 559 c.120T>G c.(118-120)AGT>AGG p.S40R DUSP22_uc011dhn.1_Missense_Mutation_p.S40R|DUSP22_uc003msy.1_5'UTR NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 40 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) TCCACGATAGTGCCAGGCCTA 0.498 26 43 --- --- --- --- PASS NEDD9 4739 broad.mit.edu 37 6 11190802 11190802 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr6:11190802C>A uc003mzv.2 - 5 1467 c.1300G>T c.(1300-1302)GAC>TAC p.D434Y NEDD9_uc010joz.2_Missense_Mutation_p.D434Y|NEDD9_uc003mzw.3_Missense_Mutation_p.D288Y NM_006403 NP_006394 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally 434 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding 0 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) CACCGCCAGTCGGTAGTGACC 0.517 4 98 --- --- --- --- PASS ZKSCAN3 80317 broad.mit.edu 37 6 28327373 28327373 + Missense_Mutation SNP G C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr6:28327373G>C uc003nle.3 + 2 226 c.10G>C c.(10-12)GAA>CAA p.E4Q ZKSCAN3_uc010jrc.2_Missense_Mutation_p.E4Q|ZKSCAN3_uc003nlf.3_Intron NM_024493 NP_077819 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 4 positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 GATGGCTAGAGAATTAAGTGA 0.493 40 44 --- --- --- --- PASS NOTCH4 4855 broad.mit.edu 37 6 32163314 32163314 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr6:32163314C>A uc003obb.2 - 30 6051 c.5912G>T c.(5911-5913)TGC>TTC p.C1971F GPSM3_uc003oax.3_5'Flank|GPSM3_uc003oay.3_5'Flank|GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_3'UTR|NOTCH4_uc003oba.2_Missense_Mutation_p.C631F|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1971 Cytoplasmic (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 CGGAGTAAGGCAAGGAGGCGG 0.607 87 28 --- --- --- --- PASS CUL9 23113 broad.mit.edu 37 6 43172777 43172777 + Missense_Mutation SNP G C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr6:43172777G>C uc003ouk.2 + 23 4631 c.4556G>C c.(4555-4557)CGG>CCG p.R1519P CUL9_uc003oul.2_Missense_Mutation_p.R1519P|CUL9_uc010jyk.2_Missense_Mutation_p.R671P NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 1519 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 TTTGGGCCTCGGGCAGCCTTC 0.602 20 75 --- --- --- --- PASS SLC22A7 10864 broad.mit.edu 37 6 43266473 43266473 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr6:43266473C>A uc003out.2 + 1 476 c.377C>A c.(376-378)TCT>TAT p.S126Y SLC22A7_uc010jyl.1_Missense_Mutation_p.S126Y|SLC22A7_uc003ous.2_Missense_Mutation_p.S126Y NM_153320 NP_696961 Q9Y694 S22A7_HUMAN solute carrier family 22 member 7 isoform b 126 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity 0 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) GAATTCTCCTCTACCATTGCA 0.507 4 73 --- --- --- --- PASS C6orf223 221416 broad.mit.edu 37 6 43970796 43970796 + Missense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr6:43970796G>T uc003own.2 + 4 680 c.662G>T c.(661-663)CGC>CTC p.R221L uc003owm.1_Intron|C6orf223_uc003owo.2_Missense_Mutation_p.R201L NM_153246 NP_694978 Q8N319 CF223_HUMAN hypothetical protein LOC221416 221 0 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) CGGCTAATGCGCTCTAATTAC 0.637 65 23 --- --- --- --- PASS RUNX2 860 broad.mit.edu 37 6 45514801 45514801 + Missense_Mutation SNP C G G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr6:45514801C>G uc011dvx.1 + 9 1535 c.1325C>G c.(1324-1326)ACT>AGT p.T442S RUNX2_uc011dvy.1_Missense_Mutation_p.T420S|RUNX2_uc003oxt.2_Missense_Mutation_p.T428S NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN runt-related transcription factor 2 isoform a 442 Pro/Ser/Thr-rich.|Interaction with MYST4. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 ACCAGCAGCACTCCATATCTC 0.592 11 55 --- --- --- --- PASS EYS 346007 broad.mit.edu 37 6 66063410 66063410 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr6:66063410C>A uc011dxu.1 - 9 1938 c.1400G>T c.(1399-1401)GGT>GTT p.G467V EYS_uc003peq.2_Missense_Mutation_p.G467V|EYS_uc003per.1_Missense_Mutation_p.G467V NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 467 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 TTGGCAAATACCATGGAAGGT 0.363 20 50 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70637829 70637829 + Nonsense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr6:70637829G>T uc003pfc.1 + 5 412 c.295G>T c.(295-297)GAG>TAG p.E99* COL19A1_uc010kam.1_5'UTR NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 99 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 CCTTCCTGAGGAGTACTCAGT 0.413 54 80 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75893694 75893694 + Silent SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr6:75893694C>T uc003phs.2 - 9 1330 c.1164G>A c.(1162-1164)ACG>ACA p.T388T COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Silent_p.T46T NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 388 Fibronectin type-III 2. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 GAACACTGAGCGTGGTTGTCT 0.512 6 138 --- --- --- --- PASS NT5E 4907 broad.mit.edu 37 6 86159901 86159901 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr6:86159901C>A uc003pko.3 + 1 600 c.44C>A c.(43-45)GCC>GAC p.A15D NT5E_uc003pkn.2_Missense_Mutation_p.A15D|NT5E_uc010kbr.2_Missense_Mutation_p.A15D NM_002526 NP_002517 P21589 5NTD_HUMAN 5' nucleotidase, ecto precursor 15 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding ovary(3)|central_nervous_system(1) 4 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) CTACTCCTCGCCCTGGGCGCG 0.711 15 7 --- --- --- --- PASS PRDM13 59336 broad.mit.edu 37 6 100062541 100062541 + Missense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr6:100062541G>T uc003pqg.1 + 4 2291 c.2030G>T c.(2029-2031)GGG>GTG p.G677V NM_021620 NP_067633 Q9H4Q3 PRD13_HUMAN PR domain containing 13 677 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) CCGGAGCCTGGGGATCCCAAG 0.687 15 35 --- --- --- --- PASS PRDM13 59336 broad.mit.edu 37 6 100062564 100062564 + Missense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr6:100062564G>T uc003pqg.1 + 4 2314 c.2053G>T c.(2053-2055)GAC>TAC p.D685Y NM_021620 NP_067633 Q9H4Q3 PRD13_HUMAN PR domain containing 13 685 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) CGACGACAGTGACGTGGACGT 0.706 19 45 --- --- --- --- PASS HS3ST5 222537 broad.mit.edu 37 6 114379015 114379015 + Silent SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr6:114379015C>T uc003pwg.3 - 2 479 c.447G>A c.(445-447)CAG>CAA p.Q149Q uc003pwf.2_Intron|HS3ST5_uc003pwh.3_Silent_p.Q149Q NM_153612 NP_705840 Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 149 Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding ovary(1)|pancreas(1) 2 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) TTGTGATTTGCTGAGGGTAGG 0.368 94 96 --- --- --- --- PASS PARK2 5071 broad.mit.edu 37 6 161969933 161969933 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr6:161969933C>T uc003qtx.3 - 9 1170 c.1036G>A c.(1036-1038)GAC>AAC p.D346N PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Missense_Mutation_p.D155N|PARK2_uc003qtw.3_Missense_Mutation_p.D155N|PARK2_uc003qty.3_Missense_Mutation_p.D318N|PARK2_uc003qtz.3_Missense_Mutation_p.D197N|PARK2_uc010kke.1_Missense_Mutation_p.D365N|PARK2_uc011egf.1_Missense_Mutation_p.D20N NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 346 IBR-type. aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) TTCCTCTGGTCAGGCTCCGGC 0.632 5 115 --- --- --- --- PASS DLL1 28514 broad.mit.edu 37 6 170592599 170592599 + Missense_Mutation SNP T A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr6:170592599T>A uc003qxm.2 - 9 2238 c.1768A>T c.(1768-1770)ATG>TTG p.M590L NM_005618 NP_005609 O00548 DLL1_HUMAN delta-like 1 precursor 590 Cytoplasmic (Potential). cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding lung(4)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) AGGTTGTTCATGGTCTCCGTC 0.642 25 80 --- --- --- --- PASS INTS1 26173 broad.mit.edu 37 7 1542595 1542595 + Silent SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr7:1542595C>T uc003skn.2 - 3 392 c.291G>A c.(289-291)GTG>GTA p.V97V INTS1_uc003skq.2_Silent_p.V97V NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 97 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GTTTTTCTGCCACTGCAGCCT 0.592 83 74 --- --- --- --- PASS FBXL18 80028 broad.mit.edu 37 7 5540481 5540481 + Silent SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr7:5540481G>A uc003soo.2 - 3 1513 c.1419C>T c.(1417-1419)TCC>TCT p.S473S FBXL18_uc003son.3_Silent_p.S473S NM_024963 NP_079239 Q96ME1 FXL18_HUMAN F-box and leucine-rich repeat protein 18 473 LRR 8. central_nervous_system(2)|ovary(1) 3 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13) ACCAGAACACGGAGGAGGGCT 0.647 16 13 --- --- --- --- PASS RP9 6100 broad.mit.edu 37 7 33139017 33139017 + Missense_Mutation SNP G C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr7:33139017G>C uc003tdm.2 - 3 233 c.215C>G c.(214-216)CCA>CGA p.P72R NM_203288 NP_976033 Q8TA86 RP9_HUMAN retinitis pigmentosa 9 72 PIM1-binding (By similarity). RNA splicing nucleus nucleic acid binding|protein binding|zinc ion binding 0 GBM - Glioblastoma multiforme(11;0.0403) TGGTACATCTGGTATGCAATC 0.483 5 144 --- --- --- --- PASS C7orf36 57002 broad.mit.edu 37 7 39612040 39612040 + Missense_Mutation SNP A T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr7:39612040A>T uc003thc.3 + 3 425 c.416A>T c.(415-417)GAT>GTT p.D139V NM_020192 NP_064577 Q9NRH1 CG036_HUMAN hypothetical protein LOC57002 139 0 TCCATTGAGGATATGGACCTT 0.398 40 112 --- --- --- --- PASS PKD1L1 168507 broad.mit.edu 37 7 47886477 47886477 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr7:47886477C>A uc003tny.1 - 32 5153 c.5153G>T c.(5152-5154)AGC>ATC p.S1718I NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1718 Extracellular (Potential).|GPS. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 GTGTCTATACCTGCAGTTCAC 0.448 14 71 --- --- --- --- PASS KRIT1 889 broad.mit.edu 37 7 91851289 91851289 + Missense_Mutation SNP A T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr7:91851289A>T uc003ulq.1 - 12 1661 c.1490T>A c.(1489-1491)CTG>CAG p.L497Q KRIT1_uc010lev.1_Missense_Mutation_p.L254Q|KRIT1_uc003ulr.1_Missense_Mutation_p.L497Q|KRIT1_uc003uls.1_Missense_Mutation_p.L497Q|KRIT1_uc003ult.1_Missense_Mutation_p.L449Q|KRIT1_uc003ulu.1_Missense_Mutation_p.L497Q|KRIT1_uc003ulv.1_Missense_Mutation_p.L497Q NM_194456 NP_919438 O00522 KRIT1_HUMAN krev interaction trapped 1 isoform 1 497 Required for RAP1A binding.|FERM. angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity ovary(2)|lung(1) 3 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTGAGGATCCAGATTAGTCAA 0.383 Familial_Cerebral_Cavernous_Angioma 52 72 --- --- --- --- PASS LMTK2 22853 broad.mit.edu 37 7 97800938 97800938 + Missense_Mutation SNP A T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr7:97800938A>T uc003upd.1 + 7 1036 c.743A>T c.(742-744)GAG>GTG p.E248V NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 248 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) ATGGCGTGCGAGGTCGCCGCG 0.667 41 63 --- --- --- --- PASS TBXAS1 6916 broad.mit.edu 37 7 139661962 139661962 + Missense_Mutation SNP A G G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr7:139661962A>G uc011kqv.1 + 10 1369 c.1205A>G c.(1204-1206)TAC>TGC p.Y402C TBXAS1_uc003vvh.2_Missense_Mutation_p.Y356C|TBXAS1_uc010lne.2_Missense_Mutation_p.Y288C|TBXAS1_uc011kqu.1_Missense_Mutation_p.Y307C|TBXAS1_uc003vvi.2_Missense_Mutation_p.Y356C|TBXAS1_uc003vvj.2_Missense_Mutation_p.Y356C|TBXAS1_uc011kqw.1_Missense_Mutation_p.Y336C NM_001130966 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1, platelet isoform 355 Helical; (Potential). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity ovary(2)|breast(1) 3 Melanoma(164;0.0142) TTTGCCACCTACCTACTGGCC 0.493 29 92 --- --- --- --- PASS PTPRN2 5799 broad.mit.edu 37 7 157985171 157985171 + Missense_Mutation SNP C T T rs140977880 byFrequency TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr7:157985171C>T uc003wno.2 - 5 518 c.397G>A c.(397-399)GTT>ATT p.V133I PTPRN2_uc003wnp.2_Missense_Mutation_p.V116I|PTPRN2_uc003wnq.2_Missense_Mutation_p.V133I|PTPRN2_uc003wnr.2_Missense_Mutation_p.V95I|PTPRN2_uc011kwa.1_Missense_Mutation_p.V156I NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 133 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TCGCTGCCAACGCTGTGTTTT 0.632 13 94 --- --- --- --- PASS MYOM2 9172 broad.mit.edu 37 8 2033485 2033485 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr8:2033485C>T uc003wpx.3 + 14 1745 c.1607C>T c.(1606-1608)CCC>CTC p.P536L MYOM2_uc011kwi.1_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 536 Fibronectin type-III 2. muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CCACCCACTCCCCGTGGCAAG 0.587 13 41 --- --- --- --- PASS MMP16 4325 broad.mit.edu 37 8 89180014 89180014 + Missense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr8:89180014G>T uc003yeb.3 - 4 875 c.593C>A c.(592-594)CCC>CAC p.P198H MMP16_uc003yec.2_Missense_Mutation_p.P198H NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 198 Extracellular (Potential). collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 TCCATCAAAGGGAGAGCTGTC 0.448 29 28 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 105263842 105263842 + Nonsense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr8:105263842G>T uc003yls.2 + 28 4139 c.3898G>T c.(3898-3900)GGA>TGA p.G1300* RIMS2_uc003ylp.2_Nonsense_Mutation_p.G1282*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.G1096*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.G1121* NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1344 C2 2. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CATCGTCTGGGGAGATTATGG 0.358 HNSCC(12;0.0054) 34 137 --- --- --- --- PASS LRP12 29967 broad.mit.edu 37 8 105503379 105503379 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr8:105503379C>A uc003yma.2 - 7 2197 c.2102G>T c.(2101-2103)CGA>CTA p.R701L LRP12_uc003ymb.2_Missense_Mutation_p.R682L|LRP12_uc003ylz.2_Missense_Mutation_p.R107L NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 701 Cytoplasmic (Potential). endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) ATGACCACCTCGGGTACTCTG 0.527 39 36 --- --- --- --- PASS OXR1 55074 broad.mit.edu 37 8 107718644 107718644 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr8:107718644C>T uc011lht.1 + 8 997 c.898C>T c.(898-900)CAT>TAT p.H300Y OXR1_uc003ymf.2_Missense_Mutation_p.H299Y|OXR1_uc011lhu.1_Missense_Mutation_p.H292Y|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_5'UTR|OXR1_uc003ymg.1_Missense_Mutation_p.H232Y|OXR1_uc003ymi.1_Missense_Mutation_p.H211Y NM_018002 NP_060472 Q8N573 OXR1_HUMAN oxidation resistance 1 isoform 1 300 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion 0 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) GGACTTCTGCCATTCAAAGAA 0.368 42 87 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113364684 113364684 + Missense_Mutation SNP A T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr8:113364684A>T uc003ynu.2 - 39 6375 c.6216T>A c.(6214-6216)GAT>GAA p.D2072E CSMD3_uc003yns.2_Missense_Mutation_p.D1274E|CSMD3_uc003ynt.2_Missense_Mutation_p.D2032E|CSMD3_uc011lhx.1_Missense_Mutation_p.D1968E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2072 Extracellular (Potential).|Sushi 11. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AGGATACTACATCTCCAACCA 0.338 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 26 84 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113364700 113364700 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr8:113364700C>T uc003ynu.2 - 39 6359 c.6200G>A c.(6199-6201)AGA>AAA p.R2067K CSMD3_uc003yns.2_Missense_Mutation_p.R1269K|CSMD3_uc003ynt.2_Missense_Mutation_p.R2027K|CSMD3_uc011lhx.1_Missense_Mutation_p.R1963K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2067 Extracellular (Potential).|Sushi 11. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AACCATATATCTGTCTCCAAT 0.343 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 28 99 --- --- --- --- PASS EFR3A 23167 broad.mit.edu 37 8 132996394 132996394 + Missense_Mutation SNP A T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr8:132996394A>T uc003yte.2 + 15 1785 c.1584A>T c.(1582-1584)CAA>CAT p.Q528H NM_015137 NP_055952 Q14156 EFR3A_HUMAN EFR3 homolog A 528 plasma membrane binding ovary(3)|breast(1)|central_nervous_system(1) 5 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) AGAATGGGCAACAGCTGTATC 0.353 15 34 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21971017 21971017 + Missense_Mutation SNP G A A rs121913386 TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr9:21971017G>A uc003zpk.2 - 2 553 c.341C>T c.(340-342)CCC>CTC p.P114L MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.A169A NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 114 ANK 4. P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.P114L(21)|p.?(13)|p.P114H(3)|p.H83fs*2(2)|p.P114S(2)|p.A68fs*3(1)|p.P114P(1)|p.V115fs*11(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CAGGTCCACGGGCAGACGGCC 0.731 P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN) 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 26 9 --- --- --- --- PASS IFT74 80173 broad.mit.edu 37 9 26984516 26984516 + Missense_Mutation SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr9:26984516G>A uc010mja.2 + 6 551 c.424G>A c.(424-426)GAG>AAG p.E142K IFT74_uc010mjb.2_Missense_Mutation_p.E142K|IFT74_uc003zqf.3_Missense_Mutation_p.E142K|IFT74_uc003zqg.3_Missense_Mutation_p.E142K NM_001099223 NP_001092693 Q96LB3 IFT74_HUMAN coiled-coil domain containing 2 isoform a 142 Potential. cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum skin(1) 1 all_neural(11;2.36e-10) Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114) TTTAGCTGTTGAGATAAAAGA 0.274 58 118 --- --- --- --- PASS DCAF12 25853 broad.mit.edu 37 9 34098402 34098402 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr9:34098402C>A uc003ztt.2 - 5 1057 c.715G>T c.(715-717)GCC>TCC p.A239S NM_015397 NP_056212 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 239 centrosome|CUL4 RING ubiquitin ligase complex 0 TCCTTTAAGGCCTTGTGAGTG 0.478 116 40 --- --- --- --- PASS TLR4 7099 broad.mit.edu 37 9 120475753 120475753 + Silent SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr9:120475753C>T uc004bjz.2 + 3 1638 c.1347C>T c.(1345-1347)CTC>CTT p.L449L TLR4_uc004bka.2_Silent_p.L409L|TLR4_uc004bkb.2_Silent_p.L249L NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 449 LRR 14.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|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 platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 TCAGAAACCTCATTTACCTTG 0.393 38 85 --- --- --- --- PASS GRIN1 2902 broad.mit.edu 37 9 140057129 140057129 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr9:140057129C>A uc004clk.2 + 14 2281 c.1951C>A c.(1951-1953)CTG>ATG p.L651M GRIN1_uc004cli.1_Missense_Mutation_p.L326M|GRIN1_uc004clj.1_Missense_Mutation_p.L648M|GRIN1_uc004cll.2_Missense_Mutation_p.L651M|GRIN1_uc004clm.2_Missense_Mutation_p.L651M|GRIN1_uc004cln.2_Missense_Mutation_p.L669M|GRIN1_uc004clo.2_Missense_Mutation_p.L669M NM_007327 NP_015566 Q05586 NMDZ1_HUMAN NMDA receptor 1 isoform NR1-3 precursor 651 Helical; (Potential). ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding skin(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CACCGCCAACCTGGCGGCCTT 0.701 15 11 --- --- --- --- PASS MLLT10 8028 broad.mit.edu 37 10 22021984 22021984 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr10:22021984C>T uc001iqs.2 + 19 2771 c.2423C>T c.(2422-2424)TCT>TTT p.S808F MLLT10_uc001iqt.2_Missense_Mutation_p.S792F|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.S792F|MLLT10_uc001ira.2_Missense_Mutation_p.S249F|MLLT10_uc001irb.2_RNA NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 808 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 CCTAGTCCGTCTCATCAAATA 0.338 T MLL|PICALM|CDK6 AL 21 46 --- --- --- --- PASS PDE6C 5146 broad.mit.edu 37 10 95422928 95422928 + Silent SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr10:95422928C>T uc001kiu.3 + 21 2649 c.2511C>T c.(2509-2511)GCC>GCT p.A837A NM_006204 NP_006195 P51160 PDE6C_HUMAN phosphodiesterase 6C 837 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding ovary(2)|kidney(1)|skin(1) 4 Colorectal(252;0.123) AAGGAGGAGCCGAAAAAGGTT 0.428 10 25 --- --- --- --- PASS TRIM21 6737 broad.mit.edu 37 11 4407427 4407427 + Silent SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr11:4407427G>A uc001lyy.1 - 6 932 c.819C>T c.(817-819)TGC>TGT p.C273C NM_003141 NP_003132 P19474 RO52_HUMAN tripartite motif protein 21 273 B30.2/SPRY. cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) CTGGCACATGGCACACACTCC 0.537 15 31 --- --- --- --- PASS COPB1 1315 broad.mit.edu 37 11 14501234 14501234 + Silent SNP G A A rs149921106 by1000genomes TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr11:14501234G>A uc001mli.2 - 11 1546 c.1239C>T c.(1237-1239)AAC>AAT p.N413N COPB1_uc001mlg.2_Silent_p.N413N|COPB1_uc001mlh.2_Silent_p.N413N NM_016451 NP_057535 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 413 HEAT 6. COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity ovary(1)|central_nervous_system(1) 2 CTGCTGCTTCGTTGTTGTCAC 0.338 26 39 --- --- --- --- PASS DCDC1 341019 broad.mit.edu 37 11 31327799 31327799 + Missense_Mutation SNP T C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr11:31327799T>C uc001msv.2 - 5 773 c.571A>G c.(571-573)ACT>GCT p.T191A DCDC1_uc001msu.1_5'UTR NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 191 Doublecortin. intracellular signal transduction skin(1) 1 Lung SC(675;0.225) GTTGGTACAGTAACTCTGGCA 0.333 19 38 --- --- --- --- PASS OR5M9 390162 broad.mit.edu 37 11 56230130 56230130 + Missense_Mutation SNP A G G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr11:56230130A>G uc010rjj.1 - 1 748 c.748T>C c.(748-750)TAT>CAT p.Y250H NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, 250 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) GGGGTCCCATAAAACATAGAA 0.512 29 36 --- --- --- --- PASS OR5B12 390191 broad.mit.edu 37 11 58206696 58206696 + Missense_Mutation SNP A G G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr11:58206696A>G uc010rkh.1 - 1 929 c.929T>C c.(928-930)ATA>ACA p.I310T NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 310 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) TATGAATCCTATAGAGGCCTT 0.289 24 49 --- --- --- --- PASS MS4A15 219995 broad.mit.edu 37 11 60540959 60540959 + Splice_Site SNP T C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr11:60540959T>C uc009ynf.1 + 5 718 c.498_splice c.e5+2 p.R166_splice MS4A15_uc001npx.2_Splice_Site_p.R73_splice|MS4A15_uc001npy.2_Splice_Site|MS4A15_uc009yng.1_Splice_Site_p.R125_splice NM_001098835 NP_001092305 Q8N5U1 M4A15_HUMAN membrane-spanning 4-domains, subfamily A, member integral to membrane receptor activity lung(1) 1 ACCAACCGGGTGCGTTGTCAG 0.582 18 35 --- --- --- --- PASS MALAT1 378938 broad.mit.edu 37 11 65271306 65271306 + RNA SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr11:65271306G>A uc010roh.1 + 1 c.6074G>A uc001ody.2_5'Flank NR_002819 Homo sapiens clone alpha1 mRNA sequence. 0 ATAAAGTGATGAGCATATAAT 0.373 16 41 --- --- --- --- PASS MALAT1 378938 broad.mit.edu 37 11 65271803 65271803 + RNA SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr11:65271803C>A uc010roh.1 + 1 c.6571C>A uc001ody.2_5'Flank NR_002819 Homo sapiens clone alpha1 mRNA sequence. 0 ACAGACTTCACAGAGAATGCA 0.413 5 37 --- --- --- --- PASS PC 5091 broad.mit.edu 37 11 66620276 66620276 + Silent SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr11:66620276C>A uc001ojn.1 - 12 1594 c.1545G>T c.(1543-1545)CCG>CCT p.P515P PC_uc001ojo.1_Silent_p.P515P|PC_uc001ojp.1_Silent_p.P515P|PC_uc001ojm.1_5'Flank NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 515 gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) TGACGGGAATCGGGGTGGTTG 0.627 45 60 --- --- --- --- PASS TPCN2 219931 broad.mit.edu 37 11 68848948 68848948 + Missense_Mutation SNP G A A rs146072177 by1000genomes TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr11:68848948G>A uc001oos.2 + 18 1786 c.1670G>A c.(1669-1671)CGT>CAT p.R557H TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_RNA|hsa-mir-3164|MI0014194_5'Flank NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN two pore segment channel 2 557 Helical; Name=S4 of repeat II; (Potential). cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CGCTTCCTGCGTATCATCCCC 0.662 4 41 --- --- --- --- PASS NOX4 50507 broad.mit.edu 37 11 89133542 89133542 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr11:89133542C>A uc001pct.2 - 10 1091 c.852G>T c.(850-852)TGG>TGT p.W284C NOX4_uc009yvr.2_Missense_Mutation_p.W259C|NOX4_uc001pcu.2_Missense_Mutation_p.W210C|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.W284C|NOX4_uc009yvo.2_Intron|NOX4_uc010rtu.1_Missense_Mutation_p.W118C|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Missense_Mutation_p.W260C|NOX4_uc009yvq.2_Missense_Mutation_p.W260C NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 284 Extracellular (Potential).|Ferric oxidoreductase.|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AAATCCAAAGCCAAGTCTAAG 0.383 4 46 --- --- --- --- PASS TULP3 7289 broad.mit.edu 37 12 3039413 3039413 + Splice_Site SNP G C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr12:3039413G>C uc010seh.1 + 5 476 c.395_splice c.e5-1 p.D132_splice TULP3_uc010sef.1_Splice_Site|TULP3_uc009zec.1_Splice_Site|TULP3_uc010seg.1_Splice_Site|TULP3_uc001qlj.2_Splice_Site_p.D132_splice|TULP3_uc010sei.1_Intron NM_003324 NP_003315 O75386 TULP3_HUMAN tubby like protein 3 isoform 1 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) TTTTCTGCTAGATATCTCTGA 0.363 5 16 --- --- --- --- PASS PRB3 5544 broad.mit.edu 37 12 11420269 11420269 + Missense_Mutation SNP G C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr12:11420269G>C uc001qzs.2 - 4 825 c.787C>G c.(787-789)CCA>GCA p.P263A PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 263 Pro-rich. extracellular region Gram-negative bacterial cell surface binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.201) GGCCTTCCTGGAGGAGGGGGA 0.617 181 159 --- --- --- --- PASS PIK3C2G 5288 broad.mit.edu 37 12 18691219 18691219 + Missense_Mutation SNP C G G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr12:18691219C>G uc001rdt.2 + 24 3446 c.3330C>G c.(3328-3330)AGC>AGG p.S1110R PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.S1151R|PIK3C2G_uc010sic.1_Missense_Mutation_p.S929R NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 1110 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) GAAAGCACAGCCAACTGCTCT 0.368 53 39 --- --- --- --- PASS DDX11 1663 broad.mit.edu 37 12 31237922 31237922 + Missense_Mutation SNP G C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr12:31237922G>C uc001rjt.1 + 5 751 c.500G>C c.(499-501)AGA>ACA p.R167T DDX11_uc010sjw.1_Missense_Mutation_p.R167T|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.R167T|DDX11_uc001rjs.1_Missense_Mutation_p.R167T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R167T|DDX11_uc001rjw.1_Missense_Mutation_p.R141T|DDX11_uc001rjx.1_5'Flank NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 167 Glu-rich.|Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GAAGAAGAAAGAGAGAATCTC 0.612 Multiple Myeloma(12;0.14) 3 22 --- --- --- --- PASS PFKM 5213 broad.mit.edu 37 12 48535522 48535522 + Splice_Site SNP G C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr12:48535522G>C uc001rrc.2 + 16 1583 c.1413_splice c.e16-1 p.R471_splice PFKM_uc001rra.1_Splice_Site_p.R156_splice|PFKM_uc001rrb.1_Splice_Site_p.R542_splice|PFKM_uc001rrd.2_Splice_Site_p.R156_splice|PFKM_uc001rre.1_Splice_Site_p.R471_splice|PFKM_uc001rrg.1_Splice_Site_p.R440_splice NM_000289 NP_000280 P08237 K6PF_HUMAN phosphofructokinase, muscle fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 TGATCAACTAGGACTCTACCC 0.468 31 159 --- --- --- --- PASS PFKM 5213 broad.mit.edu 37 12 48535523 48535523 + Missense_Mutation SNP G C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr12:48535523G>C uc001rrc.2 + 16 1583 c.1413G>C c.(1411-1413)AGG>AGC p.R471S PFKM_uc001rra.1_Missense_Mutation_p.R156S|PFKM_uc001rrb.1_Missense_Mutation_p.R542S|PFKM_uc001rrd.2_Missense_Mutation_p.R156S|PFKM_uc001rre.1_Missense_Mutation_p.R471S|PFKM_uc001rrg.1_Missense_Mutation_p.R440S NM_000289 NP_000280 P08237 K6PF_HUMAN phosphofructokinase, muscle 471 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding ovary(2)|upper_aerodigestive_tract(1)|kidney(1) 4 GATCAACTAGGACTCTACCCA 0.473 32 159 --- --- --- --- PASS KCNH3 23416 broad.mit.edu 37 12 49938088 49938088 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr12:49938088C>T uc001ruh.1 + 7 1372 c.1112C>T c.(1111-1113)GCG>GTG p.A371V KCNH3_uc010smj.1_Missense_Mutation_p.A311V NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 371 Helical; Name=Segment S5; (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 GCCCTGCTCGCGCACTGGGTC 0.552 9 20 --- --- --- --- PASS MFSD5 84975 broad.mit.edu 37 12 53647205 53647205 + Missense_Mutation SNP A G G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr12:53647205A>G uc001sci.1 + 2 777 c.586A>G c.(586-588)ATA>GTA p.I196V MFSD5_uc001sch.1_Missense_Mutation_p.I303V NM_032889 NP_116278 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 196 Helical; (Potential). transport integral to membrane skin(2)|ovary(1) 3 AGCCAGCTGGATAGGGCTGGG 0.627 37 124 --- --- --- --- PASS NCKAP1L 3071 broad.mit.edu 37 12 54903646 54903646 + Silent SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr12:54903646C>T uc001sgc.3 + 7 691 c.612C>T c.(610-612)GCC>GCT p.A204A NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.A154A NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 204 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 TGAGTGGAGCCCTCCTCTCTT 0.512 100 238 --- --- --- --- PASS RAB5B 5869 broad.mit.edu 37 12 56384546 56384546 + Silent SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr12:56384546G>A uc001siv.2 + 4 513 c.396G>A c.(394-396)GGG>GGA p.G132G RAB5B_uc001siw.2_Silent_p.G132G|RAB5B_uc009zog.2_Silent_p.G72G|RAB5B_uc010spz.1_Intron NM_002868 NP_002859 P61020 RAB5B_HUMAN RAB5B, member RAS oncogene family 132 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|membrane fraction|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity 0 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235) CCCTGGCAGGGAACAAAGCTG 0.502 39 122 --- --- --- --- PASS LRP1 4035 broad.mit.edu 37 12 57570994 57570994 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr12:57570994C>T uc001snd.2 + 25 4628 c.4162C>T c.(4162-4164)CAC>TAC p.H1388Y NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1388 Extracellular (Potential).|LDL-receptor class B 9. 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) TGACATTGAGCACCCAAGGGC 0.632 6 40 --- --- --- --- PASS NXPH4 11247 broad.mit.edu 37 12 57619107 57619107 + Silent SNP G T T rs147287568 byFrequency TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr12:57619107G>T uc010srf.1 + 2 679 c.504G>T c.(502-504)CTG>CTT p.L168L NXPH4_uc009zpj.2_5'UTR NM_007224 NP_009155 O95158 NXPH4_HUMAN neurexophilin 4 precursor 168 IV (linker domain). neuropeptide signaling pathway extracellular region 0 GAGTCTGGCTGCCCGGGCCTG 0.687 23 98 --- --- --- --- PASS GRIP1 23426 broad.mit.edu 37 12 66849249 66849249 + Missense_Mutation SNP T A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr12:66849249T>A uc001stk.2 - 10 1379 c.1138A>T c.(1138-1140)ACC>TCC p.T380S GRIP1_uc010sta.1_Missense_Mutation_p.T324S|GRIP1_uc001stj.2_Missense_Mutation_p.T162S|GRIP1_uc001stl.1_Intron|GRIP1_uc001stm.2_Missense_Mutation_p.T380S NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 432 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) CGTGGGCTGGTGGAGTAGAGG 0.488 41 141 --- --- --- --- PASS PLXNC1 10154 broad.mit.edu 37 12 94649068 94649068 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr12:94649068C>T uc001tdc.2 + 17 3332 c.3083C>T c.(3082-3084)CCT>CTT p.P1028L PLXNC1_uc010sut.1_Missense_Mutation_p.P75L NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 1028 Cytoplasmic (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 ACTTTCTTCCCTGAGGTAAAA 0.413 19 48 --- --- --- --- PASS ANKS1B 56899 broad.mit.edu 37 12 99640175 99640175 + Missense_Mutation SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr12:99640175G>A uc001tge.1 - 13 2641 c.2224C>T c.(2224-2226)CTC>TTC p.L742F ANKS1B_uc001tgf.1_Missense_Mutation_p.L322F|ANKS1B_uc001tgk.2_Missense_Mutation_p.L39F|ANKS1B_uc009ztt.1_Missense_Mutation_p.L708F NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 742 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TAGGCAATGAGATCAGAATCA 0.408 23 62 --- --- --- --- PASS GNPTAB 79158 broad.mit.edu 37 12 102155097 102155097 + Silent SNP T C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr12:102155097T>C uc001tit.2 - 15 3122 c.2943A>G c.(2941-2943)TCA>TCG p.S981S NM_024312 NP_077288 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase 981 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity ovary(1)|skin(1) 2 CTTTGTGAAATGACGTCTTGT 0.373 43 44 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 103984757 103984757 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr12:103984757C>T uc001tjw.2 + 2 350 c.164C>T c.(163-165)CCG>CTG p.P55L NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 55 Extracellular (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 GTCAAGTGCCCGGATGGTTAC 0.443 79 57 --- --- --- --- PASS SACS 26278 broad.mit.edu 37 13 23928866 23928866 + Missense_Mutation SNP C T T rs149638449 byFrequency TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr13:23928866C>T uc001uon.2 - 8 2474 c.1885G>A c.(1885-1887)GCG>ACG p.A629T SACS_uc001uoo.2_Missense_Mutation_p.A482T|SACS_uc001uop.1_Missense_Mutation_p.A416T|SACS_uc001uoq.1_Missense_Mutation_p.A482T NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 629 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) CGCACCCACGCGGGCGTCACC 0.562 51 14 --- --- --- --- PASS RNF17 56163 broad.mit.edu 37 13 25341415 25341415 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr13:25341415C>T uc001upr.2 + 2 177 c.136C>T c.(136-138)CAT>TAT p.H46Y RNF17_uc010tdd.1_5'UTR|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.H46Y|RNF17_uc001ups.2_5'UTR|RNF17_uc001upq.1_Missense_Mutation_p.H46Y NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 46 RING-type. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AATAGGTCACCATTGTGAACT 0.244 18 41 --- --- --- --- PASS COG6 57511 broad.mit.edu 37 13 40261703 40261703 + Silent SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr13:40261703G>A uc001uxh.2 + 9 952 c.852G>A c.(850-852)GCG>GCA p.A284A COG6_uc001uxi.2_Silent_p.A232A|COG6_uc010acb.2_Silent_p.A284A NM_020751 NP_065802 Q9Y2V7 COG6_HUMAN component of oligomeric golgi complex 6 isoform 284 protein transport Golgi membrane|Golgi transport complex kidney(1)|skin(1) 2 Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168) TTATTGATGCGCTCACAAGAG 0.413 41 53 --- --- --- --- PASS OR4M1 441670 broad.mit.edu 37 14 20249180 20249180 + Missense_Mutation SNP G T T rs142051783 byFrequency TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr14:20249180G>T uc010tku.1 + 1 699 c.699G>T c.(697-699)GAG>GAT p.E233D NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCTCAGGTGAGAATACCAACA 0.463 56 266 --- --- --- --- PASS TBPL2 387332 broad.mit.edu 37 14 55903639 55903639 + Missense_Mutation SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr14:55903639G>A uc001xby.2 - 2 248 c.248C>T c.(247-249)TCG>TTG p.S83L NM_199047 NP_950248 Q6SJ96 TBPL2_HUMAN TATA box binding protein like 2 83 multicellular organismal development|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding 0 TTCAGGGTTCGAATTAAATGC 0.448 50 103 --- --- --- --- PASS ZFYVE1 53349 broad.mit.edu 37 14 73437657 73437657 + Missense_Mutation SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr14:73437657G>A uc001xnm.2 - 12 2907 c.2267C>T c.(2266-2268)CCT>CTT p.P756L ZFYVE1_uc001xnl.2_Missense_Mutation_p.P341L|ZFYVE1_uc010arj.2_Missense_Mutation_p.P742L NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 isoform 1 756 FYVE-type 2. endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding skin(1) 1 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) GCCACGAGAAGGAACAGCCCG 0.592 46 97 --- --- --- --- PASS RPS6KA5 9252 broad.mit.edu 37 14 91444752 91444752 + Missense_Mutation SNP T C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr14:91444752T>C uc001xys.2 - 3 507 c.292A>G c.(292-294)ACA>GCA p.T98A RPS6KA5_uc010twi.1_Missense_Mutation_p.T19A|RPS6KA5_uc001xyt.2_Missense_Mutation_p.T98A|RPS6KA5_uc010att.1_RNA NM_004755 NP_004746 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, polypeptide 5 98 Protein kinase 1. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) TCTGTCCTTGTATGCTCTGTG 0.393 67 64 --- --- --- --- PASS WARS 7453 broad.mit.edu 37 14 100835456 100835456 + Missense_Mutation SNP C T T rs146689917 TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr14:100835456C>T uc001yhf.1 - 1 151 c.67G>A c.(67-69)GTA>ATA p.V23I WARS_uc001yhg.1_Missense_Mutation_p.V23I|WARS_uc001yhh.1_Missense_Mutation_p.V23I|WARS_uc001yhi.1_Intron|WARS_uc001yhj.1_Intron|WARS_uc001yhk.1_Intron|WARS_uc001yhl.1_Missense_Mutation_p.V23I|WARS_uc010twz.1_Missense_Mutation_p.V23I NM_173701 NP_776049 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase isoform a 23 WHEP-TRS. angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(1) 1 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) AGGGACCTTACGAGCTCCCCT 0.542 22 69 --- --- --- --- PASS TNFAIP2 7127 broad.mit.edu 37 14 103599089 103599089 + Silent SNP A C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr14:103599089A>C uc001ymm.1 + 8 1556 c.1425A>C c.(1423-1425)CCA>CCC p.P475P TNFAIP2_uc010awo.1_Silent_p.P187P|TNFAIP2_uc010txz.1_Silent_p.P144P|TNFAIP2_uc010tya.1_5'UTR NM_006291 NP_006282 Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 475 angiogenesis|cell differentiation extracellular space central_nervous_system(1) 1 Melanoma(154;0.155) Epithelial(46;0.191) TGTCTCAGCCACTGTTCAAGA 0.527 11 23 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106174701 106174701 + RNA SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr14:106174701C>A uc010tyt.1 - 3631 c.59633G>T uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron Parts of antibodies, mostly variable regions. 0 CTGACCTGGGCAGGGCACAGT 0.682 3 48 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28357016 28357016 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr15:28357016C>T uc001zbj.2 - 93 14504 c.14398G>A c.(14398-14400)GCA>ACA p.A4800T HERC2_uc001zbi.2_Missense_Mutation_p.A489T NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 4800 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CCTGTAAGTGCGATGCGAGCG 0.527 20 62 --- --- --- --- PASS KBTBD13 390594 broad.mit.edu 37 15 65370042 65370042 + Missense_Mutation SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr15:65370042G>A uc010uis.1 + 1 889 c.889G>A c.(889-891)GGC>AGC p.G297S RASL12_uc010uir.1_5'Flank NM_001101362 NP_001094832 C9JR72 KBTBD_HUMAN hypothetical protein LOC390594 297 Kelch 3. cytoplasm 0 GCCGGCCGCCGGCGTGCCCTG 0.731 4 3 --- --- --- --- PASS C15orf44 81556 broad.mit.edu 37 15 65885801 65885801 + Silent SNP T C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr15:65885801T>C uc002apd.2 - 8 1287 c.951A>G c.(949-951)CTA>CTG p.L317L C15orf44_uc010uix.1_Silent_p.L353L|C15orf44_uc010uiz.1_Silent_p.L281L|C15orf44_uc010uja.1_Silent_p.L267L|C15orf44_uc010ujb.1_Silent_p.L238L|C15orf44_uc002ape.3_Silent_p.L317L|C15orf44_uc010uiy.1_Silent_p.L238L NM_030800 NP_110427 Q96SY0 CO044_HUMAN hypothetical protein LOC81556 isoform 2 317 ovary(1) 1 CTTCCACTTTTAGGCTACCAT 0.383 63 79 --- --- --- --- PASS SGK269 79834 broad.mit.edu 37 15 77472963 77472963 + Nonsense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr15:77472963C>A uc002bcm.2 - 3 1614 c.1306G>T c.(1306-1308)GAA>TAA p.E436* SGK269_uc002bcn.2_Nonsense_Mutation_p.E436* NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 436 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) GCTTTACTTTCTTCCTTCTCA 0.443 74 172 --- --- --- --- PASS KIAA1024 23251 broad.mit.edu 37 15 79749217 79749217 + Missense_Mutation SNP C G G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr15:79749217C>G uc002bew.1 + 2 803 c.728C>G c.(727-729)TCC>TGC p.S243C KIAA1024_uc010unk.1_Missense_Mutation_p.S243C NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 243 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 ACCTTCATTTCCAATGAGGAG 0.478 40 71 --- --- --- --- PASS AKAP13 11214 broad.mit.edu 37 15 86087101 86087101 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr15:86087101C>T uc002blv.1 + 5 747 c.577C>T c.(577-579)CTC>TTC p.L193F AKAP13_uc002blt.1_Missense_Mutation_p.L193F|AKAP13_uc002blu.1_Missense_Mutation_p.L193F NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 193 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 CCGCGGAGCTCTCAGTATCCA 0.582 43 43 --- --- --- --- PASS SOX8 30812 broad.mit.edu 37 16 1034928 1034928 + Missense_Mutation SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr16:1034928G>A uc002ckn.2 + 3 998 c.883G>A c.(883-885)GCC>ACC p.A295T NM_014587 NP_055402 P57073 SOX8_HUMAN SRY (sex determining region Y)-box 8 295 adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis cytoplasm|nucleus central_nervous_system(1)|skin(1) 2 Hepatocellular(780;0.00308) GGGCGGCCCCGCCCCACCCGA 0.716 9 14 --- --- --- --- PASS NTN3 4917 broad.mit.edu 37 16 2522769 2522769 + Silent SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr16:2522769C>T uc002cqj.2 + 2 1199 c.996C>T c.(994-996)CGC>CGT p.R332R TBC1D24_uc002cqk.2_5'Flank|TBC1D24_uc002cql.2_5'Flank NM_006181 NP_006172 O00634 NET3_HUMAN netrin 3 precursor 332 Laminin EGF-like 2. axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation proteinaceous extracellular matrix central_nervous_system(1) 1 TGTCCGGCCGCCGCAGCGGGG 0.687 22 79 --- --- --- --- PASS XYLT1 64131 broad.mit.edu 37 16 17202563 17202563 + Silent SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr16:17202563G>T uc002dfa.2 - 12 2954 c.2869C>A c.(2869-2871)CGG>AGG p.R957R NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN xylosyltransferase I 957 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity ovary(4) 4 TACCTGAGCCGGCCATCAGGT 0.672 11 22 --- --- --- --- PASS GPRC5B 51704 broad.mit.edu 37 16 19883337 19883337 + Silent SNP C G G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr16:19883337C>G uc002dgt.2 - 2 939 c.831G>C c.(829-831)GCG>GCC p.A277A GPRC5B_uc010vav.1_Silent_p.A303A NM_016235 NP_057319 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, 277 Helical; Name=7; (Potential). lung(1)|breast(1)|skin(1) 3 AGCCGCTGGCCGCCAGCGTGA 0.612 32 26 --- --- --- --- PASS SLC5A11 115584 broad.mit.edu 37 16 24921729 24921729 + Missense_Mutation SNP C A A rs148456649 TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr16:24921729C>A uc002dmu.2 + 15 1985 c.1753C>A c.(1753-1755)CCA>ACA p.P585T SLC5A11_uc002dms.2_Missense_Mutation_p.P521T|SLC5A11_uc010vcd.1_Missense_Mutation_p.P550T|SLC5A11_uc002dmt.2_Missense_Mutation_p.P429T|SLC5A11_uc010vce.1_Missense_Mutation_p.P515T|SLC5A11_uc010bxt.2_Missense_Mutation_p.P521T|SLC5A11_uc002dmv.2_Missense_Mutation_p.P208T NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 585 Cytoplasmic (Potential). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) GAACGGGATGCCAGAGGCCAG 0.552 44 43 --- --- --- --- PASS SEZ6L2 26470 broad.mit.edu 37 16 29891243 29891243 + Silent SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr16:29891243G>T uc002duq.3 - 9 1755 c.1515C>A c.(1513-1515)GCC>GCA p.A505A uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.A435A|SEZ6L2_uc002dur.3_Silent_p.A435A|SEZ6L2_uc002dus.3_Silent_p.A391A|SEZ6L2_uc010vec.1_Silent_p.A505A|SEZ6L2_uc010ved.1_Silent_p.A461A NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 505 Sushi 2.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 CACATTCGATGGCATTGGGGG 0.607 133 131 --- --- --- --- PASS C16orf78 123970 broad.mit.edu 37 16 49430384 49430384 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr16:49430384C>A uc002efr.2 + 4 488 c.445C>A c.(445-447)CCA>ACA p.P149T NM_144602 NP_653203 Q8WTQ4 CP078_HUMAN hypothetical protein LOC123970 149 central_nervous_system(1) 1 GCGGCCAAACCCATTCCGTCG 0.498 63 50 --- --- --- --- PASS TMEM208 29100 broad.mit.edu 37 16 67262945 67262945 + Missense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr16:67262945G>T uc002esi.2 + 6 557 c.451G>T c.(451-453)GGC>TGC p.G151C LRRC29_uc002ese.2_5'Flank|LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|TMEM208_uc002esj.2_RNA NM_014187 NP_054906 Q9BTX3 TM208_HUMAN HSPC171 protein 151 Helical; (Potential). integral to membrane 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) TGCAGACAGTGGCACCCCAGC 0.587 4 101 --- --- --- --- PASS LDHD 197257 broad.mit.edu 37 16 75149143 75149143 + Missense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr16:75149143G>T uc002fdm.2 - 3 327 c.280C>A c.(280-282)CCA>ACA p.P94T LDHD_uc002fdn.2_Missense_Mutation_p.P94T NM_153486 NP_705690 Q86WU2 LDHD_HUMAN D-lactate dehydrogenase isoform 1 precursor 94 FAD-binding PCMH-type. D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding 0 GTGCCGAATGGGATGATGGGC 0.657 40 122 --- --- --- --- PASS TAF1C 9013 broad.mit.edu 37 16 84214991 84214991 + Silent SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr16:84214991C>A uc002fhn.2 - 10 1413 c.1185G>T c.(1183-1185)GCG>GCT p.A395A TAF1C_uc002fhm.2_Silent_p.A302A|TAF1C_uc010vnx.1_Silent_p.A369A|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_Silent_p.A63A|TAF1C_uc002fho.2_5'UTR|TAF1C_uc010voa.1_Silent_p.A63A|TAF1C_uc002fhp.1_Intron|TAF1C_uc010vob.1_3'UTR NM_005679 NP_005670 Q15572 TAF1C_HUMAN TBP-associated factor 1C isoform 1 395 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding ovary(1) 1 CCCGAGGGTGCGCAGTGAAGT 0.662 16 9 --- --- --- --- PASS KIAA1609 57707 broad.mit.edu 37 16 84529384 84529384 + Missense_Mutation SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr16:84529384G>A uc002fib.2 - 3 396 c.289C>T c.(289-291)CAC>TAC p.H97Y KIAA1609_uc010vod.1_Missense_Mutation_p.H70Y|KIAA1609_uc002fic.2_RNA NM_020947 NP_065998 Q6P9B6 K1609_HUMAN hypothetical protein LOC57707 97 protein binding ovary(2) 2 TTCAACAGGTGGGACATGGAT 0.527 46 107 --- --- --- --- PASS DBNDD1 79007 broad.mit.edu 37 16 90075214 90075214 + Missense_Mutation SNP G C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr16:90075214G>C uc002fqf.1 - 3 485 c.297C>G c.(295-297)AAC>AAG p.N99K DBNDD1_uc002fqe.1_Missense_Mutation_p.N119K|DBNDD1_uc002fqg.1_RNA NM_001042610 NP_001036075 Q9H9R9 DBND1_HUMAN dysbindin (dystrobrevin binding protein 1) 99 cytoplasm 0 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0275) CGGTGTTGAGGTTCTCGTCGT 0.647 13 19 --- --- --- --- PASS ABR 29 broad.mit.edu 37 17 910480 910480 + Silent SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr17:910480C>A uc002fsd.2 - 22 2525 c.2415G>T c.(2413-2415)CTG>CTT p.L805L ABR_uc002fse.2_Silent_p.L759L|ABR_uc010vqf.1_Silent_p.L256L|ABR_uc010vqg.1_Silent_p.L587L|ABR_uc002fsg.2_Silent_p.L768L|ABR_uc002fsf.2_Silent_p.L342L NM_021962 NP_068781 Q12979 ABR_HUMAN active breakpoint cluster region-related 805 Rho-GAP. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) CTGAGGGTCTCAGTAACGTGG 0.577 4 69 --- --- --- --- PASS MYOCD 93649 broad.mit.edu 37 17 12656496 12656496 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr17:12656496C>A uc002gnn.2 + 10 2190 c.1891C>A c.(1891-1893)CCC>ACC p.P631T MYOCD_uc002gno.2_Missense_Mutation_p.P631T|MYOCD_uc002gnp.1_Missense_Mutation_p.P535T|MYOCD_uc002gnq.2_Missense_Mutation_p.P350T NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 631 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) ATTTCTCAGCCCCCAGTGTTC 0.537 45 159 --- --- --- --- PASS COPS3 8533 broad.mit.edu 37 17 17158245 17158245 + Silent SNP T C C rs141030201 by1000genomes TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr17:17158245T>C uc002grd.2 - 9 1042 c.951A>G c.(949-951)CTA>CTG p.L317L COPS3_uc010vwv.1_Silent_p.L297L|COPS3_uc010vww.1_Silent_p.L187L NM_003653 NP_003644 Q9UNS2 CSN3_HUMAN COP9 constitutive photomorphogenic homolog 317 PCI. cullin deneddylation|response to light stimulus|signal transduction cytoplasm|signalosome protein binding skin(1) 1 CTTGTAATGATAGAGTTAAAA 0.363 22 60 --- --- --- --- PASS EFCAB5 374786 broad.mit.edu 37 17 28296243 28296243 + Missense_Mutation SNP G C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr17:28296243G>C uc002het.2 + 4 817 c.625G>C c.(625-627)GAC>CAC p.D209H EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.1_Missense_Mutation_p.D153H|EFCAB5_uc010wbk.1_Intron|EFCAB5_uc010csd.2_RNA|EFCAB5_uc010cse.2_Missense_Mutation_p.D88H|EFCAB5_uc010csf.2_Missense_Mutation_p.D88H NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 209 calcium ion binding ovary(1)|skin(1) 2 AAGCAAGTTTGACCCAATTAA 0.363 38 52 --- --- --- --- PASS SLFN11 91607 broad.mit.edu 37 17 33690031 33690031 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr17:33690031C>T uc010ctp.2 - 4 1238 c.796G>A c.(796-798)GAC>AAC p.D266N SLFN11_uc010ctq.2_Missense_Mutation_p.D266N|SLFN11_uc002hjh.3_Missense_Mutation_p.D266N|SLFN11_uc002hjg.3_Missense_Mutation_p.D266N|SLFN11_uc010ctr.2_Missense_Mutation_p.D266N NM_001104588 NP_001098058 Q7Z7L1 SLN11_HUMAN schlafen family member 11 266 nucleus ATP binding large_intestine(1)|ovary(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GAGTCAGGGTCAACATTTTCT 0.418 79 104 --- --- --- --- PASS KRTAP4-2 85291 broad.mit.edu 37 17 39334259 39334259 + Missense_Mutation SNP G C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr17:39334259G>C uc002hwd.2 - 1 202 c.158C>G c.(157-159)TCT>TGT p.S53C NM_033062 NP_149051 Q9BYR5 KRA42_HUMAN keratin associated protein 4-2 53 20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].|8. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GCAGCACACAGACTGGCAGCA 0.672 3 117 --- --- --- --- PASS WNK4 65266 broad.mit.edu 37 17 40937356 40937356 + Missense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr17:40937356G>T uc002ibj.2 + 6 1353 c.1332G>T c.(1330-1332)GAG>GAT p.E444D WNK4_uc010wgx.1_Missense_Mutation_p.E108D|WNK4_uc002ibk.1_Missense_Mutation_p.E216D|WNK4_uc010wgy.1_Translation_Start_Site NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 444 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) AACTAGCGGAGGAGGACGACG 0.582 6 13 --- --- --- --- PASS ASB16 92591 broad.mit.edu 37 17 42248258 42248258 + Missense_Mutation SNP A T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr17:42248258A>T uc002ifl.1 + 1 185 c.101A>T c.(100-102)CAG>CTG p.Q34L ASB16_uc002ifm.1_RNA NM_080863 NP_543139 Q96NS5 ASB16_HUMAN ankyrin repeat and SOCS box-containing protein 34 intracellular signal transduction protein binding kidney(2) 2 Breast(137;0.00765)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.114) GCGGCTGCCCAGCAGTGCCGG 0.682 8 24 --- --- --- --- PASS CRHR1 1394 broad.mit.edu 37 17 43893891 43893891 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr17:43893891C>A uc010dap.2 + 3 449 c.184C>A c.(184-186)CAG>AAG p.Q62K CRHR1_uc010wjx.1_5'UTR|CRHR1_uc002ijp.2_5'UTR|CRHR1_uc002ijm.2_Missense_Mutation_p.Q62K|CRHR1_uc002ijn.2_Intron|CRHR1_uc010dar.2_Missense_Mutation_p.Q62K|CRHR1_uc010dao.2_5'UTR|CRHR1_uc010daq.2_5'UTR|CRHR1_uc010das.1_RNA|CRHR1_uc002ijo.1_Intron NM_001145146 NP_001138618 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 62 Extracellular (Potential). female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(3) 3 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) CCCTGCGGGGCAGCTAGTGGT 0.602 32 15 --- --- --- --- PASS MRC2 9902 broad.mit.edu 37 17 60768056 60768056 + Missense_Mutation SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr17:60768056G>A uc002jad.2 + 27 4348 c.3946G>A c.(3946-3948)GAG>AAG p.E1316K MRC2_uc002jae.2_Missense_Mutation_p.E387K|MRC2_uc002jaf.2_Missense_Mutation_p.E182K NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 1316 Extracellular (Potential).|C-type lectin 8. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 GTTTGTCTGGGAGCACCTGCA 0.627 27 76 --- --- --- --- PASS ACE 1636 broad.mit.edu 37 17 61554676 61554676 + Missense_Mutation SNP A C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr17:61554676A>C uc002jau.1 + 1 243 c.221A>C c.(220-222)AAC>ACC p.N74T ACE_uc010wph.1_Missense_Mutation_p.N74T|ACE_uc010wpi.1_Missense_Mutation_p.N74T|ACE_uc010ddu.1_5'UTR NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 74 Extracellular (Potential).|Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) CACGACACCAACATCACCGCG 0.522 5 6 --- --- --- --- PASS DDX42 11325 broad.mit.edu 37 17 61895543 61895543 + Missense_Mutation SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr17:61895543G>A uc002jbu.2 + 19 2859 c.2602G>A c.(2602-2604)GCA>ACA p.A868T DDX42_uc002jbv.2_Missense_Mutation_p.A868T|DDX42_uc002jbx.2_Missense_Mutation_p.A604T|DDX42_uc002jby.2_Missense_Mutation_p.A414T|DDX42_uc010wps.1_Missense_Mutation_p.A236T NM_007372 NP_031398 Q86XP3 DDX42_HUMAN DEAD box polypeptide 42 protein 868 Gly-rich.|His-rich. protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2)|large_intestine(1) 5 TGGAGGAAGCGCAGGCCGGCA 0.567 34 132 --- --- --- --- PASS ST6GALNAC1 55808 broad.mit.edu 37 17 74625591 74625591 + Missense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr17:74625591G>T uc002jsh.2 - 2 508 c.334C>A c.(334-336)CAG>AAG p.Q112K ST6GALNAC1_uc002jsi.2_5'UTR|ST6GALNAC1_uc002jsj.2_RNA NM_018414 NP_060884 Q9NSC7 SIA7A_HUMAN sialyltransferase 7A 112 Lumenal (Potential). protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity 0 ACCTTGTCCTGCTCCTCCGGC 0.592 82 55 --- --- --- --- PASS CANT1 124583 broad.mit.edu 37 17 76989736 76989736 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr17:76989736C>T uc002jwn.2 - 6 1541 c.1102G>A c.(1102-1104)GGC>AGC p.G368S CANT1_uc002jwk.2_Missense_Mutation_p.G368S|CANT1_uc002jwj.2_Missense_Mutation_p.G368S|CANT1_uc002jwl.2_Intron|CANT1_uc002jwm.1_RNA NM_001159772 NP_001153244 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 368 Lumenal (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity 0 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) GCGACTCTGCCGCTGTCCTCC 0.592 T ETV4 prostate OREG0024788 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 74 --- --- --- --- PASS ENPP7 339221 broad.mit.edu 37 17 77708963 77708963 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr17:77708963C>T uc002jxa.2 + 3 541 c.521C>T c.(520-522)GCG>GTG p.A174V NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 174 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity central_nervous_system(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GAGTGGAGAGCGAACATCGAC 0.602 16 61 --- --- --- --- PASS CETN1 1068 broad.mit.edu 37 18 580495 580495 + Missense_Mutation SNP G C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr18:580495G>C uc002kko.1 + 1 129 c.87G>C c.(85-87)CAG>CAC p.Q29H NM_004066 NP_004057 Q12798 CETN1_HUMAN centrin 1 29 EF-hand 1. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding upper_aerodigestive_tract(1)|ovary(1) 2 CTGAGGATCAGAAGCAAGAAG 0.602 19 17 --- --- --- --- PASS DLGAP1 9229 broad.mit.edu 37 18 3879841 3879841 + Silent SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr18:3879841G>T uc002kmf.2 - 1 295 c.228C>A c.(226-228)ACC>ACA p.T76T DLGAP1_uc010wyz.1_Silent_p.T76T|DLGAP1_uc002kmk.2_Silent_p.T76T|uc002kml.1_Intron NM_004746 NP_004737 O14490 DLGP1_HUMAN discs large homolog-associated protein 1 isoform 76 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane ovary(2)|pancreas(1)|skin(1) 4 Colorectal(8;0.0257) CTTGCTGCGAGGTGTAGTGCC 0.672 60 50 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76753467 76753467 + Silent SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr18:76753467C>T uc002lmt.2 + 2 1476 c.1476C>T c.(1474-1476)CCC>CCT p.P492P SALL3_uc010dra.2_Silent_p.P99P NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) ACAACGTGCCCACCTGCTCGG 0.647 9 23 --- --- --- --- PASS DAPK3 1613 broad.mit.edu 37 19 3959564 3959564 + Silent SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr19:3959564C>T uc002lzc.1 - 8 993 c.900G>A c.(898-900)ACG>ACA p.T300T DAPK3_uc002lzb.1_Silent_p.T37T|DAPK3_uc002lzd.1_Silent_p.T300T NM_001348 NP_001339 O43293 DAPK3_HUMAN death-associated protein kinase 3 300 apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CCTTCAGACGCGTGGTCTTCA 0.672 15 7 --- --- --- --- PASS INSR 3643 broad.mit.edu 37 19 7125332 7125332 + Nonsense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr19:7125332C>A uc002mgd.1 - 17 3329 c.3220G>T c.(3220-3222)GAG>TAG p.E1074* INSR_uc002mge.1_Nonsense_Mutation_p.E1062* NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 1074 Protein kinase.|Cytoplasmic (Potential). activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACCGAGGCCTCATTGAGGAAC 0.597 34 46 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8174625 8174625 + Missense_Mutation SNP C G G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr19:8174625C>G uc002mjf.2 - 34 4367 c.4346G>C c.(4345-4347)TGT>TCT p.C1449S NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 1449 EGF-like 23; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 TGGGTCTGCACACTCGTTGAT 0.617 79 91 --- --- --- --- PASS ADAMTS10 81794 broad.mit.edu 37 19 8657685 8657685 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr19:8657685C>T uc002mkj.1 - 13 1823 c.1549G>A c.(1549-1551)GAG>AAG p.E517K ADAMTS10_uc002mki.1_5'Flank|ADAMTS10_uc002mkk.1_Missense_Mutation_p.E149K NM_030957 NP_112219 Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 517 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding pancreas(2)|skin(2) 4 AGCGTGCCCTCGGCGGCCGGG 0.711 23 45 --- --- --- --- PASS OR1M1 125963 broad.mit.edu 37 19 9204359 9204359 + Missense_Mutation SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr19:9204359G>A uc010xkj.1 + 1 439 c.439G>A c.(439-441)GCC>ACC p.A147T NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 GCTGGTCGGCGCCCTCTGGGC 0.577 35 106 --- --- --- --- PASS ILF3 3609 broad.mit.edu 37 19 10791697 10791697 + Silent SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr19:10791697C>T uc002mpn.2 + 10 1277 c.960C>T c.(958-960)CAC>CAT p.H320H ILF3_uc002mpm.2_Silent_p.H320H|ILF3_uc002mpl.2_Silent_p.H320H|ILF3_uc002mpk.2_Silent_p.H320H|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Silent_p.H320H|ILF3_uc002mpp.2_Silent_p.H141H NM_012218 NP_036350 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3 isoform a 320 DZF. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding|protein binding ovary(3) 3 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) TTCTCCAGCACGCACTGCGGC 0.592 16 61 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22363521 22363521 + Missense_Mutation SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr19:22363521C>A uc002nqs.1 - 3 1316 c.998G>T c.(997-999)GGA>GTA p.G333V NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 333 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GGGTTTCTCTCCAGCATGAAT 0.403 8 102 --- --- --- --- PASS ZNF492 57615 broad.mit.edu 37 19 22847660 22847660 + Missense_Mutation SNP G C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr19:22847660G>C uc002nqw.3 + 4 1433 c.1189G>C c.(1189-1191)GAA>CAA p.E397Q NM_020855 NP_065906 Q9P255 ZN492_HUMAN zinc finger protein 492 397 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) CAAATGTGAAGAATGTGGCAA 0.378 16 60 --- --- --- --- PASS ZNF492 57615 broad.mit.edu 37 19 22847933 22847933 + Missense_Mutation SNP A T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr19:22847933A>T uc002nqw.3 + 4 1706 c.1462A>T c.(1462-1464)AAC>TAC p.N488Y NM_020855 NP_065906 Q9P255 ZN492_HUMAN zinc finger protein 492 488 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) AGCCTTTAACAACTCCTCTAT 0.378 20 15 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22940298 22940298 + Missense_Mutation SNP T C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr19:22940298T>C uc010xrh.1 - 5 2140 c.2140A>G c.(2140-2142)AGA>GGA p.R714G NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCATGTTTTCTAAGGGTTGAG 0.338 14 41 --- --- --- --- PASS C19orf2 8725 broad.mit.edu 37 19 30500174 30500174 + Missense_Mutation SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr19:30500174G>A uc002nsr.2 + 8 979 c.949G>A c.(949-951)GAT>AAT p.D317N C19orf2_uc002nsq.2_Missense_Mutation_p.D299N|C19orf2_uc002nss.2_Missense_Mutation_p.D277N|C19orf2_uc002nst.2_Missense_Mutation_p.D241N NM_003796 NP_003787 O94763 RMP_HUMAN RPB5-mediating protein isoform a 317 Poly-Asp. protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1)|kidney(1) 2 Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) Hepatocellular(1079;0.137)|Renal(1328;0.228) STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115) STAD - Stomach adenocarcinoma(1328;0.18) tgacgacgatgatggtgataa 0.249 8 694 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 39062862 39062862 + Silent SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr19:39062862G>A uc002oit.2 + 95 14080 c.13950G>A c.(13948-13950)CTG>CTA p.L4650L RYR1_uc002oiu.2_Silent_p.L4645L NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 4650 Helical; Name=M6; (Potential). L -> P (in CCD; autosomal recessive form). muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGAGCCTCCTGCATACACTGG 0.463 31 99 --- --- --- --- PASS RASIP1 54922 broad.mit.edu 37 19 49225237 49225237 + Missense_Mutation SNP T A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr19:49225237T>A uc002pki.2 - 11 2763 c.2566A>T c.(2566-2568)ACC>TCC p.T856S MAMSTR_uc002pkg.2_5'Flank|RASIP1_uc002pkh.2_Missense_Mutation_p.T117S NM_017805 NP_060275 Q5U651 RAIN_HUMAN Ras-interacting protein 1 856 Dilute. signal transduction Golgi stack|perinuclear region of cytoplasm pancreas(1) 1 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) GGGTGGTCGGTTCTTAGGCTG 0.627 17 53 --- --- --- --- PASS SIGLEC9 27180 broad.mit.edu 37 19 51628378 51628378 + Silent SNP C A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr19:51628378C>A uc002pvu.2 + 1 214 c.147C>A c.(145-147)GGC>GGA p.G49G SIGLEC9_uc010yct.1_Silent_p.G49G NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 49 Extracellular (Potential).|Ig-like V-type. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) CCTCGCATGGCTGGATTTACC 0.577 17 50 --- --- --- --- PASS ZNF534 147658 broad.mit.edu 37 19 52941348 52941348 + Missense_Mutation SNP A C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr19:52941348A>C uc002pzk.2 + 4 735 c.674A>C c.(673-675)AAA>ACA p.K225T ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.K212T NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATTGCAGATAAAACTTACAAA 0.383 23 75 --- --- --- --- PASS ZNF808 388558 broad.mit.edu 37 19 53057259 53057259 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr19:53057259C>T uc010epq.1 + 5 1267 c.1090C>T c.(1090-1092)CTT>TTT p.L364F ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN zinc finger protein 808 364 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) CCATCAAAGACTTCATACTGG 0.378 28 93 --- --- --- --- PASS ZNF160 90338 broad.mit.edu 37 19 53572222 53572222 + Nonsense_Mutation SNP G C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr19:53572222G>C uc010eqk.2 - 7 1981 c.1565C>G c.(1564-1566)TCA>TGA p.S522* ZNF160_uc002qaq.3_Nonsense_Mutation_p.S522*|ZNF160_uc002qar.3_Nonsense_Mutation_p.S522* NM_001102603 NP_001096073 Q9HCG1 ZN160_HUMAN zinc finger protein 160 522 C2H2-type 10. hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(134;0.02) AGTCAGACTTGAACGAACACT 0.393 3 103 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57325529 57325529 + Silent SNP T C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr19:57325529T>C uc002qnu.2 - 7 4632 c.4281A>G c.(4279-4281)GGA>GGG p.G1427G ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.G1398G|PEG3_uc002qnv.2_Silent_p.G1427G|PEG3_uc002qnw.2_Silent_p.G1303G|PEG3_uc002qnx.2_Silent_p.G1301G|PEG3_uc010etr.2_Silent_p.G1427G NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1427 1-2.|Glu-rich.|4 X 5 AA repeat of P-X-G-E-A. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTGCAGCCTCTCCATCTGGCC 0.602 3 105 --- --- --- --- PASS PLK1S1 55857 broad.mit.edu 37 20 21142527 21142527 + Missense_Mutation SNP G C C TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr20:21142527G>C uc002wsb.2 + 5 554 c.421G>C c.(421-423)GGG>CGG p.G141R PLK1S1_uc010zsh.1_Missense_Mutation_p.G38R|PLK1S1_uc010zsi.1_Missense_Mutation_p.G8R|PLK1S1_uc010zsj.1_RNA|uc002wsc.2_Intron|PLK1S1_uc002wsd.2_RNA NM_018474 NP_060944 Q2M2Z5 KIZ_HUMAN polo-like kinase 1 substrate 1 isoform 1 141 spindle organization centrosome protein kinase binding 0 AGTGCACGAGGGGATTAACTC 0.408 17 26 --- --- --- --- PASS C20orf186 149954 broad.mit.edu 37 20 31672750 31672750 + Missense_Mutation SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr20:31672750G>T uc010zue.1 + 4 745 c.730G>T c.(730-732)GGC>TGC p.G244C NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 244 cytoplasm|extracellular region lipid binding 0 GCTCCTGCCCGGCGTGGGTGT 0.667 19 36 --- --- --- --- PASS C20orf117 140710 broad.mit.edu 37 20 35444582 35444582 + Silent SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr20:35444582C>T uc002xgd.1 - 5 876 c.549G>A c.(547-549)TCG>TCA p.S183S C20orf117_uc002xge.1_RNA NM_199181 NP_954650 O94964 K0889_HUMAN hypothetical protein LOC140710 isoform 2 183 0 Myeloproliferative disorder(115;0.00874) CCCCATAGAGCGAGCGGTACT 0.602 26 152 --- --- --- --- PASS ZNFX1 57169 broad.mit.edu 37 20 47880003 47880003 + Silent SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr20:47880003C>T uc002xui.2 - 6 2416 c.2169G>A c.(2167-2169)AAG>AAA p.K723K NM_021035 NP_066363 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 723 metal ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GCTCTGACTCCTTCATCTGTG 0.498 9 15 --- --- --- --- PASS BCAS1 8537 broad.mit.edu 37 20 52645146 52645146 + Missense_Mutation SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr20:52645146G>A uc002xws.2 - 4 846 c.508C>T c.(508-510)CCC>TCC p.P170S BCAS1_uc010zzb.1_Missense_Mutation_p.P73S|BCAS1_uc010gim.2_Missense_Mutation_p.P73S|BCAS1_uc002xwt.2_Missense_Mutation_p.P170S|BCAS1_uc010gil.1_Missense_Mutation_p.P170S|BCAS1_uc010zzc.1_Missense_Mutation_p.P73S NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 170 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) AGAAGCGTGGGATCCCTGGCG 0.612 35 215 --- --- --- --- PASS SYCP2 10388 broad.mit.edu 37 20 58440891 58440891 + Silent SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr20:58440891G>A uc002yaz.2 - 41 4489 c.4350C>T c.(4348-4350)TTC>TTT p.F1450F NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1450 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) GATATGCACTGAACTTCTGAA 0.204 5 40 --- --- --- --- PASS PRIC285 85441 broad.mit.edu 37 20 62196906 62196906 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr20:62196906C>T uc002yfm.2 - 9 4161 c.3269G>A c.(3268-3270)GGG>GAG p.G1090E PRIC285_uc002yfl.1_Missense_Mutation_p.G521E NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 1090 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) CCCGTCCTCCCCGACGGTCAC 0.677 12 42 --- --- --- --- PASS DSCAM 1826 broad.mit.edu 37 21 41725408 41725408 + Silent SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr21:41725408G>A uc002yyq.1 - 5 1370 c.918C>T c.(916-918)GGC>GGT p.G306G DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 306 Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CGTACAGGCGGCCTATCACCT 0.502 28 148 --- --- --- --- PASS NHS 4810 broad.mit.edu 37 X 17746389 17746389 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chrX:17746389C>T uc004cxx.2 + 6 4438 c.4100C>T c.(4099-4101)GCC>GTC p.A1367V NHS_uc011mix.1_Missense_Mutation_p.A1388V|NHS_uc004cxy.2_Missense_Mutation_p.A1211V|NHS_uc004cxz.2_Missense_Mutation_p.A1190V|NHS_uc004cya.2_Missense_Mutation_p.A1090V NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 1367 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) GCCAAAAGTGCCTCTGATAAC 0.398 21 8 --- --- --- --- PASS CDK16 5127 broad.mit.edu 37 X 47086599 47086599 + Missense_Mutation SNP G A A TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chrX:47086599G>A uc004dho.2 + 13 1657 c.1261G>A c.(1261-1263)GAC>AAC p.D421N CDK16_uc011mli.1_Missense_Mutation_p.D427N|CDK16_uc011mlk.1_Missense_Mutation_p.D428N|CDK16_uc011mll.1_Missense_Mutation_p.D495N NM_006201 NP_006192 Q00536 CDK16_HUMAN PCTAIRE protein kinase 1 isoform 1 421 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding lung(1) 1 CGACGGGGCCGACCTCCTCAC 0.582 12 7 --- --- --- --- PASS ITIH5L 347365 broad.mit.edu 37 X 54814966 54814966 + Missense_Mutation SNP C G G TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chrX:54814966C>G uc004dtj.2 - 5 763 c.733G>C c.(733-735)GAC>CAC p.D245H NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 245 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 ACCAGGAAGTCAGCCATGATG 0.577 19 11 --- --- --- --- PASS ALG13 79868 broad.mit.edu 37 X 110928309 110928309 + Missense_Mutation SNP C T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chrX:110928309C>T uc011msy.1 + 3 395 c.361C>T c.(361-363)CAT>TAT p.H121Y ALG13_uc004epi.1_Missense_Mutation_p.H121Y|ALG13_uc011msw.1_Missense_Mutation_p.H43Y|ALG13_uc011msx.1_Missense_Mutation_p.H17Y|ALG13_uc011msz.1_Missense_Mutation_p.H43Y|ALG13_uc011mta.1_Missense_Mutation_p.H17Y|ALG13_uc011mtb.1_Missense_Mutation_p.H17Y Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 121 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 CAAAGAGGGTCATCTCTTCTA 0.428 137 156 --- --- --- --- PASS SLC6A14 11254 broad.mit.edu 37 X 115574932 115574932 + Silent SNP G T T TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chrX:115574932G>T uc004eqi.2 + 5 734 c.630G>T c.(628-630)GGG>GGT p.G210G SLC6A14_uc011mtm.1_RNA NM_007231 NP_009162 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid 210 Extracellular (Potential). cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2)|pancreas(1) 3 L-Proline(DB00172) ATCAGCCAGGGCAGCTTCCCA 0.328 28 48 --- --- --- --- PASS TMEM63A 9725 broad.mit.edu 37 1 226048639 226048639 + Frame_Shift_Del DEL G - - TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr1:226048639delG uc001hpm.1 - 14 1394 c.1144delC c.(1144-1146)CAGfs p.Q382fs NM_014698 NP_055513 O94886 TM63A_HUMAN transmembrane protein 63A 382 integral to membrane|lysosomal membrane nucleotide binding ovary(1)|breast(1) 2 Breast(184;0.197) GAGGACGGCTGGGGCTCACCT 0.547 123 119 --- --- --- --- TRAF3IP1 26146 broad.mit.edu 37 2 239237421 239237423 + In_Frame_Del DEL ATA - - TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr2:239237421_239237423delATA uc002vye.2 + 4 568_570 c.449_451delATA c.(448-453)GATAAT>GAT p.N151del TRAF3IP1_uc002vyf.2_In_Frame_Del_p.N151del NM_015650 NP_056465 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting 151 Abolishes microtubules-binding when missing. cytoplasm|cytoskeleton protein binding ovary(1) 1 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) CAGGAATTGGATAATAAGAATGT 0.448 38 30 --- --- --- --- FBXW7 55294 broad.mit.edu 37 4 153244155 153244156 + Frame_Shift_Ins INS - C C rs7679116 TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr4:153244155_153244156insC uc003ims.2 - 12 2150_2151 c.2001_2002insG c.(1999-2004)GGGAGTfs p.G667fs FBXW7_uc011cii.1_Frame_Shift_Ins_p.G667fs|FBXW7_uc003imt.2_Frame_Shift_Ins_p.G667fs|FBXW7_uc011cih.1_Frame_Shift_Ins_p.G491fs|FBXW7_uc003imq.2_Frame_Shift_Ins_p.G587fs|FBXW7_uc003imr.2_Frame_Shift_Ins_p.G549fs NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 667_668 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.S668fs*26(1)|p.S668fs*39(1) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ACTCCCCCACTCCCCCCACTCT 0.485 Mis|N|D|F colorectal|endometrial|T-ALL 178 129 --- --- --- --- ADCY2 108 broad.mit.edu 37 5 7709413 7709416 + Frame_Shift_Del DEL CTTG - - TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr5:7709413_7709416delCTTG uc003jdz.1 + 10 1558_1561 c.1491_1494delCTTG c.(1489-1494)TACTTGfs p.Y497fs ADCY2_uc011cmo.1_Frame_Shift_Del_p.Y317fs NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 497_498 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TGACCCGGTACTTGGAGTCCTGGG 0.613 41 41 --- --- --- --- SLC15A1 6564 broad.mit.edu 37 13 99371545 99371545 + Frame_Shift_Del DEL C - - TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr13:99371545delC uc001vno.2 - 8 663 c.586delG c.(586-588)GCTfs p.A196fs NM_005073 NP_005064 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide 196 Extracellular (Potential). digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity ovary(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) GGGTAACAAGCTTGTTTACTG 0.423 38 66 --- --- --- --- FAM82A2 55177 broad.mit.edu 37 15 41029852 41029852 + Frame_Shift_Del DEL C - - TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr15:41029852delC uc001zmo.1 - 10 1342 c.1198delG c.(1198-1200)GAAfs p.E400fs FAM82A2_uc001zmp.1_Frame_Shift_Del_p.E400fs|FAM82A2_uc001zmq.1_Frame_Shift_Del_p.E400fs NM_018145 NP_060615 Q96TC7 RMD3_HUMAN family with sequence similarity 82, member A2 400 apoptosis|cell differentiation integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole protein binding 0 AGGGCATCTTCCACAGTGGCA 0.478 67 46 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579527 7579542 + Frame_Shift_Del DEL ACCATTGTTCAATATC - - TCGA-22-4593-01A-21D-1817-08 TCGA-22-4593-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx b4a48075-92fd-43ab-95f3-476bcea88d7b fc5c19b6-d735-4f4c-86b1-11a84bc07e66 g.chr17:7579527_7579542delACCATTGTTCAATATC uc002gim.2 - 4 339_354 c.145_160delGATATTGAACAATGGT c.(145-162)GATATTGAACAATGGTTCfs p.D49fs TP53_uc002gig.1_Frame_Shift_Del_p.D49fs|TP53_uc002gih.2_Frame_Shift_Del_p.D49fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.D49fs|TP53_uc010cni.1_Frame_Shift_Del_p.D49fs|TP53_uc002gij.2_Frame_Shift_Del_p.D49fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.D10fs|TP53_uc010cnk.1_Frame_Shift_Del_p.D64fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 49_54 TADII.|Interaction with HRMT1L2. F -> Y (in a sporadic cancer; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.W53*(10)|p.0?(7)|p.E51*(6)|p.Q52*(6)|p.D49H(4)|p.D49Y(2)|p.W53C(2)|p.Q52H(1)|p.Q52>P*(1)|p.I50fs*4(1)|p.I50fs*1(1)|p.E51fs*72(1)|p.E51fs*59(1)|p.D48fs*55(1)|p.E51_Q52insX(1)|p.E51E(1)|p.S33fs*23(1)|p.Q52fs*6(1)|p.P13fs*18(1)|p.F54fs*69(1)|p.Q52fs*67(1)|p.F54fs*3(1)|p.S46_D49delSPDD(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTTCAGTGAACCATTGTTCAATATCGTCCGGGGAC 0.560 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 72 68 --- --- --- ---