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 PADI1 29943 broad.mit.edu 37 1 17552360 17552360 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:17552360G>A uc001bah.1 + 5 555 c.463G>A c.(463-465)GAC>AAC p.D155N NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN peptidylarginine deiminase type I 155 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity 0 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) GGTGAACTGTGACCGGGACAA 0.592 41 144 --- --- --- --- PASS RAP1GAP 5909 broad.mit.edu 37 1 21936075 21936075 + Missense_Mutation SNP A G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:21936075A>G uc001bex.2 - 15 1322 c.1064T>C c.(1063-1065)TTC>TCC p.F355S RAP1GAP_uc001bev.2_Missense_Mutation_p.F355S|RAP1GAP_uc001bew.2_Missense_Mutation_p.F419S|RAP1GAP_uc001bey.2_Missense_Mutation_p.F355S NM_002885 NP_002876 P47736 RPGP1_HUMAN RAP1 GTPase activating protein isoform c 355 Rap-GAP. regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) CACCTTCCTGAACACAGCGGG 0.612 27 145 --- --- --- --- PASS MTF1 4520 broad.mit.edu 37 1 38300828 38300828 + Missense_Mutation SNP T C C TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:38300828T>C uc001cce.1 - 6 1054 c.913A>G c.(913-915)AGT>GGT p.S305G MTF1_uc009vvj.1_5'UTR NM_005955 NP_005946 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 305 C2H2-type 6. nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding ovary(1)|pancreas(1) 2 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CTTTTGAGACTGTATTGAGTG 0.393 3 176 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39799867 39799867 + Missense_Mutation SNP A G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:39799867A>G uc010oiu.1 + 1 3058 c.2927A>G c.(2926-2928)AAA>AGA p.K976R 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 2541 Plectin 9. 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) GAGAAACTCAAAAGAGTTGAG 0.363 5 153 --- --- --- --- PASS C1orf87 127795 broad.mit.edu 37 1 60476071 60476071 + Silent SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:60476071C>T uc001czs.1 - 9 1277 c.1185G>A c.(1183-1185)TTG>TTA p.L395L C1orf87_uc001czr.1_5'Flank NM_152377 NP_689590 Q8N0U7 CA087_HUMAN hypothetical protein LOC127795 395 calcium ion binding ovary(1)|breast(1) 2 CACCTGTAGGCAAATCAGATA 0.388 16 102 --- --- --- --- PASS SFRS11 9295 broad.mit.edu 37 1 70716181 70716181 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:70716181G>A uc001des.2 + 12 1376 c.1252G>A c.(1252-1254)GTA>ATA p.V418I SFRS11_uc001det.2_Missense_Mutation_p.V418I|SFRS11_uc001deu.2_Missense_Mutation_p.V425I|SFRS11_uc001dev.2_Missense_Mutation_p.V228I|SFRS11_uc001dew.2_Missense_Mutation_p.V358I NM_004768 NP_004759 Q05519 SRS11_HUMAN splicing factor, arginine/serine-rich 11 418 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 TGATAAAGATGTAAAAGTATG 0.189 32 115 --- --- --- --- PASS TNNI3K 51086 broad.mit.edu 37 1 74701805 74701805 + Silent SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:74701805C>T uc001dgf.1 + 2 111 c.60C>T c.(58-60)GTC>GTT p.V20V TNNI3K_uc001dgc.1_Silent_p.V121V|TNNI3K_uc001dgd.2_Silent_p.V121V|TNNI3K_uc001dge.1_Silent_p.V121V NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 20 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 AGAAAAAAGTCAGTGAATCAT 0.308 5 55 --- --- --- --- PASS LPHN2 23266 broad.mit.edu 37 1 82408777 82408777 + Silent SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:82408777C>T uc001dit.3 + 6 703 c.522C>T c.(520-522)CCC>CCT p.P174P LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.P174P|LPHN2_uc001div.2_Silent_p.P174P|LPHN2_uc009wcd.2_Silent_p.P174P NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 174 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ATTTCATGCCCTGGACTCCCT 0.398 36 151 --- --- --- --- PASS LPAR3 23566 broad.mit.edu 37 1 85279701 85279701 + Missense_Mutation SNP T C C TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:85279701T>C uc001dkl.2 - 2 929 c.890A>G c.(889-891)GAC>GGC p.D297G LPAR3_uc009wcj.1_Missense_Mutation_p.D297G NM_012152 NP_036284 Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 297 Helical; Name=7; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle lung(3)|ovary(2) 5 CATGTCCTCGTCCTTGTAGGA 0.567 23 129 --- --- --- --- PASS CHIA 27159 broad.mit.edu 37 1 111854925 111854925 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:111854925G>A uc001eas.2 + 4 272 c.169G>A c.(169-171)GCC>ACC p.A57T CHIA_uc001ear.2_Intron|CHIA_uc001eaq.2_Intron|CHIA_uc009wgc.2_Intron|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_Intron|CHIA_uc001eau.2_Intron|CHIA_uc009wgd.2_Intron NM_201653 NP_970615 Q9BZP6 CHIA_HUMAN acidic chitinase isoform c 57 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding ovary(1) 1 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) CCTGATCTACGCCTTTGCTGG 0.542 21 126 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152277864 152277864 + Silent SNP A G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:152277864A>G uc001ezu.1 - 3 9534 c.9498T>C c.(9496-9498)CGT>CGC p.R3166R NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3166 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTTCCTCATTACGTGTTGTTC 0.557 Ichthyosis 207 422 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152283889 152283889 + Missense_Mutation SNP G C C TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:152283889G>C uc001ezu.1 - 3 3509 c.3473C>G c.(3472-3474)TCC>TGC p.S1158C uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1158 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACCCTCTTGGGACGCTGAGTG 0.597 Ichthyosis 9 694 --- --- --- --- PASS FLG2 388698 broad.mit.edu 37 1 152325143 152325143 + Missense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:152325143G>T uc001ezw.3 - 3 5192 c.5119C>A c.(5119-5121)CAC>AAC p.H1707N uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1707 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGATGATAGTGGGCATGTCTA 0.488 110 531 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158651388 158651388 + Silent SNP A G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:158651388A>G uc001fst.1 - 4 659 c.460T>C c.(460-462)TTG>CTG p.L154L NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 154 Spectrin 2. L -> LL (in EL2). actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GCCCGCAGCAACTGGTCACCC 0.522 83 224 --- --- --- --- PASS ITLN1 55600 broad.mit.edu 37 1 160850481 160850481 + Nonsense_Mutation SNP A T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:160850481A>T uc001fxc.2 - 6 698 c.582T>A c.(580-582)TAT>TAA p.Y194* NM_017625 NP_060095 Q8WWA0 ITLN1_HUMAN intelectin precursor 194 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TTCCTTCTCCATATTTCACTG 0.453 102 225 --- --- --- --- PASS RC3H1 149041 broad.mit.edu 37 1 173933297 173933297 + Missense_Mutation SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:173933297C>A uc001gju.3 - 10 1732 c.1645G>T c.(1645-1647)GCC>TCC p.A549S RC3H1_uc010pms.1_Missense_Mutation_p.A549S|RC3H1_uc001gjv.2_Missense_Mutation_p.A549S|RC3H1_uc010pmt.1_Missense_Mutation_p.A549S NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 549 Pro-rich. cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 ACAGGTAAGGCAGAAATACTC 0.398 24 68 --- --- --- --- PASS KCNT2 343450 broad.mit.edu 37 1 196436902 196436902 + Silent SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:196436902G>A uc001gtd.1 - 7 534 c.474C>T c.(472-474)TCC>TCT p.S158S KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.S158S|KCNT2_uc001gtf.1_Silent_p.S158S|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.S158S|KCNT2_uc009wyv.1_Silent_p.S133S NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 158 Helical; Name=Segment S3; (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 GATTCCTTAAGGAAGGCCAGA 0.303 6 59 --- --- --- --- PASS DENND1B 163486 broad.mit.edu 37 1 197576299 197576299 + Silent SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:197576299C>A uc001guf.3 - 13 1163 c.825G>T c.(823-825)GTG>GTT p.V275V DENND1B_uc010ppe.1_Silent_p.V255V|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Silent_p.V245V|DENND1B_uc001gug.3_Silent_p.V74V NM_144977 NP_659414 Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B isoform 2 275 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity 0 ATTTGTTTTTCACTCTCTATA 0.274 3 58 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215848337 215848337 + Missense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:215848337G>T uc001hku.1 - 63 13303 c.12916C>A c.(12916-12918)CTC>ATC p.L4306I NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4306 Fibronectin type-III 28.|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) AAAGGATAGAGCATTTCATTC 0.393 HNSCC(13;0.011) 56 138 --- --- --- --- PASS ESRRG 2104 broad.mit.edu 37 1 216850766 216850766 + Missense_Mutation SNP C G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:216850766C>G uc001hkw.1 - 2 290 c.124G>C c.(124-126)GAA>CAA p.E42Q ESRRG_uc001hky.1_Missense_Mutation_p.E19Q|ESRRG_uc009xdp.1_Missense_Mutation_p.E19Q|ESRRG_uc001hkz.1_Missense_Mutation_p.E19Q|ESRRG_uc010puc.1_Missense_Mutation_p.E19Q|ESRRG_uc001hla.1_Missense_Mutation_p.E19Q|ESRRG_uc001hlb.1_Missense_Mutation_p.E19Q|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.E19Q|ESRRG_uc001hld.1_Missense_Mutation_p.E19Q|ESRRG_uc001hkx.1_Missense_Mutation_p.E47Q|ESRRG_uc009xdo.1_Missense_Mutation_p.E19Q|ESRRG_uc001hle.1_Missense_Mutation_p.E19Q NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 42 E->A: 4-fold increase in transcriptional activity. positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CTGGAAGGTTCCGTCTTGATG 0.478 30 66 --- --- --- --- PASS DISP1 84976 broad.mit.edu 37 1 223177009 223177009 + Missense_Mutation SNP C G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:223177009C>G uc001hnu.1 + 8 2417 c.2270C>G c.(2269-2271)TCG>TGG p.S757W NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 757 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) GTGTTCCGGTCGTCCCATCCT 0.463 45 151 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228509756 228509756 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:228509756G>A uc009xez.1 + 55 15258 c.15214G>A c.(15214-15216)GTA>ATA p.V5072I OBSCN_uc001hsn.2_Missense_Mutation_p.V5072I NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 5072 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CCGCCAGGCGGTAACTCGCTT 0.592 3 17 --- --- --- --- PASS OR2T1 26696 broad.mit.edu 37 1 248570209 248570209 + Missense_Mutation SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr1:248570209C>A uc010pzm.1 + 1 914 c.914C>A c.(913-915)GCC>GAC p.A305D NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 305 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TACGGGGCTGCCATGTACACC 0.527 84 139 --- --- --- --- PASS IFT172 26160 broad.mit.edu 37 2 27676897 27676897 + Silent SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr2:27676897C>T uc002rku.2 - 33 3714 c.3663G>A c.(3661-3663)GGG>GGA p.G1221G IFT172_uc010ezb.2_RNA NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 1221 cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) GGAGCAGCAGCCCTTCTGCTT 0.622 49 247 --- --- --- --- PASS NLRC4 58484 broad.mit.edu 37 2 32466102 32466102 + Missense_Mutation SNP C G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr2:32466102C>G uc002roi.2 - 5 2596 c.2350G>C c.(2350-2352)GCT>CCT p.A784P NLRC4_uc002roj.1_Missense_Mutation_p.A784P|NLRC4_uc010ezt.1_Missense_Mutation_p.A119P NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 784 LRR 6. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GAAATCTGACCTAGTTTTATA 0.378 38 64 --- --- --- --- PASS MTA3 57504 broad.mit.edu 37 2 42871290 42871290 + Silent SNP C G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr2:42871290C>G uc002rso.1 + 7 907 c.237C>G c.(235-237)GTC>GTG p.V79V MTA3_uc002rsp.1_Silent_p.V79V|MTA3_uc002rsq.2_Silent_p.V135V|MTA3_uc002rsr.2_Silent_p.V135V NM_020744 NP_065795 Q9BTC8 MTA3_HUMAN metastasis associated 1 family, member 3 135 BAH. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 ACTCATTGGTCTATGACCCCT 0.353 10 103 --- --- --- --- PASS CLEC4F 165530 broad.mit.edu 37 2 71043700 71043700 + Missense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr2:71043700G>T uc002shf.2 - 4 890 c.813C>A c.(811-813)AAC>AAA p.N271K CLEC4F_uc010yqv.1_Missense_Mutation_p.N271K NM_173535 NP_775806 Q8N1N0 CLC4F_HUMAN C-type lectin, superfamily member 13 271 Extracellular (Potential). endocytosis integral to membrane receptor activity|sugar binding ovary(5) 5 TTAAAACCTGGTTCTGGGTCC 0.438 77 225 --- --- --- --- PASS REG1B 5968 broad.mit.edu 37 2 79313613 79313613 + Missense_Mutation SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr2:79313613C>A uc002sny.2 - 4 313 c.201G>T c.(199-201)ATG>ATT p.M67I REG1B_uc010ffv.1_Missense_Mutation_p.M67I|REG1B_uc010ffw.2_3'UTR NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 67 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 TGCCTGAATTCATGTTCTGGC 0.498 50 101 --- --- --- --- PASS TBC1D8 11138 broad.mit.edu 37 2 101646111 101646111 + Silent SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr2:101646111G>A uc010fiv.2 - 12 2150 c.2019C>T c.(2017-2019)CTC>CTT p.L673L TBC1D8_uc002tau.3_Silent_p.L430L NM_001102426 NP_001095896 O95759 TBCD8_HUMAN TBC1 domain family, member 8 673 Rab-GAP TBC. blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity ovary(3) 3 GCATGATGCTGAGGAACAGGG 0.557 7 94 --- --- --- --- PASS RANBP2 5903 broad.mit.edu 37 2 109380809 109380809 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr2:109380809G>A uc002tem.3 + 20 3940 c.3814G>A c.(3814-3816)GCA>ACA p.A1272T NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1272 RanBD1 1. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 CCTTGATTATGCAGATGAGTT 0.383 60 226 --- --- --- --- PASS YSK4 80122 broad.mit.edu 37 2 135744425 135744425 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr2:135744425G>A uc002tue.1 - 7 2048 c.2017C>T c.(2017-2019)CAT>TAT p.H673Y YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.H560Y|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.H401Y|YSK4_uc002tui.3_Missense_Mutation_p.H690Y NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 673 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) TCTCGCACATGACAATAAACA 0.393 52 348 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136566354 136566354 + Missense_Mutation SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr2:136566354C>A uc002tuu.1 - 8 3574 c.3563G>T c.(3562-3564)AGC>ATC p.S1188I NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1188 3.|Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) CTCAGTGAAGCTTGGCAGGCG 0.537 59 155 --- --- --- --- PASS SPOPL 339745 broad.mit.edu 37 2 139316664 139316664 + Missense_Mutation SNP C G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr2:139316664C>G uc002tvh.2 + 6 953 c.553C>G c.(553-555)CGT>GGT p.R185G NM_001001664 NP_001001664 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 185 nucleus skin(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0296) GCCTGAGTGTCGTCTAGCAGA 0.373 6 200 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168105153 168105153 + Silent SNP T A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr2:168105153T>A uc002udx.2 + 8 7269 c.7251T>A c.(7249-7251)GGT>GGA p.G2417G XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.G2242G|XIRP2_uc010fpq.2_Silent_p.G2195G|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2242 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GAAAAACCGGTGTGTTGCCAC 0.438 48 121 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170029730 170029730 + Missense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr2:170029730G>T uc002ues.2 - 57 11232 c.11019C>A c.(11017-11019)AGC>AGA p.S3673R NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3673 LDL-receptor class A 29.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GATGGGCAGAGCTCACTGAAA 0.468 10 46 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170042283 170042283 + Missense_Mutation SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr2:170042283C>T uc002ues.2 - 50 9788 c.9575G>A c.(9574-9576)CGG>CAG p.R3192Q NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3192 EGF-like 12; calcium-binding (Potential).|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACTGTTTTGCCGGCAGGTCTT 0.428 82 225 --- --- --- --- PASS CCDC141 285025 broad.mit.edu 37 2 179736969 179736969 + Missense_Mutation SNP T C C TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr2:179736969T>C uc002unf.1 - 3 302 c.245A>G c.(244-246)AAA>AGA p.K82R NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 82 Potential. protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CCGTTCTGCTTTCTGGTTTTC 0.423 3 140 --- --- --- --- PASS NIF3L1 60491 broad.mit.edu 37 2 201760025 201760025 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr2:201760025G>A uc002uwm.2 + 4 729 c.638G>A c.(637-639)TGT>TAT p.C213Y NIF3L1_uc002uwl.2_Missense_Mutation_p.C186Y|NIF3L1_uc002uwn.2_Missense_Mutation_p.C186Y|NIF3L1_uc002uwo.2_Missense_Mutation_p.C213Y|NIF3L1_uc002uwp.2_Missense_Mutation_p.C213Y|NIF3L1_uc002uwq.2_Missense_Mutation_p.C213Y NM_001136039 NP_001129511 Q9GZT8 NIF3L_HUMAN NIF3 NGG1 interacting factor 3-like 1 isoform 1 213 positive regulation of transcription, DNA-dependent transcription factor binding skin(1) 1 AATCTGAATTGTACTCAGAAG 0.373 46 181 --- --- --- --- PASS KCNE4 23704 broad.mit.edu 37 2 223917651 223917651 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr2:223917651G>A uc002vnl.3 + 2 257 c.103G>A c.(103-105)GAG>AAG p.E35K NM_080671 NP_542402 Q8WWG9 KCNE4_HUMAN potassium voltage-gated channel, Isk-related 35 integral to membrane voltage-gated potassium channel activity ovary(1) 1 Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175) Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008) CAATGGCAACGAGTACTTCTA 0.592 5 99 --- --- --- --- PASS ECEL1 9427 broad.mit.edu 37 2 233344865 233344865 + Nonstop_Mutation SNP A G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr2:233344865A>G uc002vsv.2 - 18 2531 c.2326T>C c.(2326-2328)TGA>CGA p.*776R ECEL1_uc010fya.1_Nonstop_Mutation_p.*774R|ECEL1_uc010fyb.1_Nonstop_Mutation_p.*483R NM_004826 NP_004817 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 776 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity central_nervous_system(2) 2 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) AGCCAGGCTCACCACACGGAA 0.672 14 34 --- --- --- --- PASS NDUFA10 4705 broad.mit.edu 37 2 240951107 240951107 + Missense_Mutation SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr2:240951107C>T uc002vyn.2 - 6 756 c.676G>A c.(676-678)GAA>AAA p.E226K NDUFA10_uc010fzc.1_Missense_Mutation_p.E256K NM_004544 NP_004535 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 226 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1) 1 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) ATCTTCATTTCATGTGGCTAA 0.403 34 81 --- --- --- --- PASS ZNF197 10168 broad.mit.edu 37 3 44685345 44685345 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr3:44685345G>A uc003cnm.2 + 6 2929 c.2723G>A c.(2722-2724)GGA>GAA p.G908E ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron NM_006991 NP_008922 O14709 ZN197_HUMAN zinc finger protein 197 isoform 1 908 C2H2-type 20. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) AATGAGTGTGGAAAAGACTTT 0.358 66 144 --- --- --- --- PASS KIF9 64147 broad.mit.edu 37 3 47316965 47316965 + Silent SNP A G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr3:47316965A>G uc010hjp.2 - 4 713 c.109T>C c.(109-111)TTA>CTA p.L37L KIF9_uc003cqx.2_Silent_p.L37L|KIF9_uc003cqy.2_Silent_p.L37L|KIF9_uc011bat.1_RNA|KIF9_uc011bau.1_RNA|KIF9_uc003cra.3_RNA NM_001134878 NP_001128350 Q9HAQ2 KIF9_HUMAN kinesin family member 9 isoform 2 37 Kinesin-motor. blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity skin(1) 1 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TCTTTTTTTAAGTGAATATCA 0.363 16 85 --- --- --- --- PASS DNAH1 25981 broad.mit.edu 37 3 52366376 52366376 + Missense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr3:52366376G>T uc011bef.1 + 8 1513 c.1252G>T c.(1252-1254)GCC>TCC p.A418S DNAH1_uc003ddt.1_Missense_Mutation_p.A418S NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 418 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAAGCAGTGGGCCCTGAGCAC 0.582 13 46 --- --- --- --- PASS TIGIT 201633 broad.mit.edu 37 3 114026870 114026870 + Silent SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr3:114026870G>A uc003ebg.1 + 4 661 c.627G>A c.(625-627)GGG>GGA p.G209G NM_173799 NP_776160 Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 209 Cytoplasmic (Potential). negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding central_nervous_system(1) 1 CACCTGCTGGGCTCTGTGGAG 0.572 50 267 --- --- --- --- PASS PCOLCE2 26577 broad.mit.edu 37 3 142567068 142567068 + Missense_Mutation SNP T G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr3:142567068T>G uc003evd.2 - 3 635 c.439A>C c.(439-441)AAC>CAC p.N147H NM_013363 NP_037495 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 147 extracellular region collagen binding|heparin binding|peptidase activator activity ovary(2)|skin(1) 3 CCTCTTTCGTTTGGTTCAGCA 0.438 109 62 --- --- --- --- PASS PLCH1 23007 broad.mit.edu 37 3 155203221 155203221 + Silent SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr3:155203221G>A uc011bok.1 - 22 3199 c.2922C>T c.(2920-2922)GAC>GAT p.D974D PLCH1_uc011boj.1_Silent_p.D974D|PLCH1_uc011bol.1_Silent_p.D936D NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 974 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GAAGGTTTCTGTCAACAGGCA 0.468 47 263 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164786893 164786893 + Missense_Mutation SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr3:164786893C>A uc003fei.2 - 4 408 c.346G>T c.(346-348)GTT>TTT p.V116F NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 116 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ATGTCTTGAACGTTATAACCA 0.378 HNSCC(35;0.089) 69 61 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164907836 164907836 + Missense_Mutation SNP A C C TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr3:164907836A>C uc003fej.3 - 2 1227 c.783T>G c.(781-783)TGT>TGG p.C261W SLITRK3_uc003fek.2_Missense_Mutation_p.C261W NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 261 LRRCT 1.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 AAGGGGTCTCACAGGTAATGT 0.473 HNSCC(40;0.11) 6 447 --- --- --- --- PASS MRPL47 57129 broad.mit.edu 37 3 179320569 179320569 + Silent SNP A G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr3:179320569A>G uc003fjz.2 - 2 137 c.115T>C c.(115-117)TTG>CTG p.L39L MRPL47_uc003fka.2_Intron|MRPL47_uc003fkb.2_Intron|NDUFB5_uc003fkc.2_5'Flank|NDUFB5_uc003fkd.2_5'Flank|NDUFB5_uc003fke.2_5'Flank NM_020409 NP_065142 Q9HD33 RM47_HUMAN mitochondrial ribosomal protein L47 isoform a 39 translation mitochondrial ribosome structural constituent of ribosome 0 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) CTCTTAGGCAACAAACTAAGA 0.289 24 321 --- --- --- --- PASS GUCY1A3 2982 broad.mit.edu 37 4 156634686 156634686 + Missense_Mutation SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr4:156634686C>T uc003iov.2 + 8 2059 c.1523C>T c.(1522-1524)GCA>GTA p.A508V GUCY1A3_uc010iqc.2_Missense_Mutation_p.A508V|GUCY1A3_uc003iow.2_Missense_Mutation_p.A508V|GUCY1A3_uc010iqd.2_Missense_Mutation_p.A507V|GUCY1A3_uc003iox.2_Missense_Mutation_p.A508V|GUCY1A3_uc003ioz.2_Missense_Mutation_p.A273V|GUCY1A3_uc003ioy.2_Missense_Mutation_p.A508V|GUCY1A3_uc010iqe.2_Missense_Mutation_p.A273V|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Missense_Mutation_p.A508V NM_000856 NP_000847 Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 isoform A 508 Guanylate cyclase. 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) ATGCTCAATGCACTGTACACT 0.502 27 47 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45262200 45262200 + Missense_Mutation SNP C G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr5:45262200C>G uc003jok.2 - 8 2521 c.2496G>C c.(2494-2496)AGG>AGC p.R832S NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 832 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GGACAGTGCTCCTGCCCCCTG 0.677 27 56 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45262826 45262826 + Nonsense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr5:45262826G>A uc003jok.2 - 8 1895 c.1870C>T c.(1870-1872)CAG>TAG p.Q624* NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 624 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TTCACAATCTGCTTGAGGATT 0.433 20 162 --- --- --- --- PASS PPIP5K2 23262 broad.mit.edu 37 5 102465368 102465368 + Missense_Mutation SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr5:102465368C>A uc003kod.3 + 2 594 c.75C>A c.(73-75)TTC>TTA p.F25L PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.F25L|PPIP5K2_uc010jbo.1_Intron NM_015216 NP_056031 O43314 VIP2_HUMAN Histidine acid phosphatase domain containing 1 25 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity ovary(1)|skin(1) 2 GACATTTCTTCCACCATGCAG 0.358 10 33 --- --- --- --- PASS GRIA1 2890 broad.mit.edu 37 5 153056685 153056685 + Missense_Mutation SNP G C C TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr5:153056685G>C uc003lva.3 + 7 1358 c.993G>C c.(991-993)TGG>TGC p.W331C GRIA1_uc003luy.3_Missense_Mutation_p.W331C|GRIA1_uc003luz.3_Missense_Mutation_p.W236C|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.W251C|GRIA1_uc011dcx.1_Missense_Mutation_p.W262C|GRIA1_uc011dcy.1_Missense_Mutation_p.W341C|GRIA1_uc011dcz.1_Missense_Mutation_p.W341C|GRIA1_uc010jia.1_Missense_Mutation_p.W311C NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 331 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTGTTCCCTGGGGCCAAGGGA 0.552 9 34 --- --- --- --- PASS GABRB2 2561 broad.mit.edu 37 5 160838029 160838029 + Missense_Mutation SNP T A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr5:160838029T>A uc003lys.1 - 6 711 c.493A>T c.(493-495)AGG>TGG p.R165W GABRB2_uc011deh.1_Missense_Mutation_p.R4W|GABRB2_uc003lyr.1_Missense_Mutation_p.R165W|GABRB2_uc003lyt.1_Missense_Mutation_p.R165W|GABRB2_uc010jiu.1_Missense_Mutation_p.R102W NM_021911 NP_068711 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 165 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity 0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GGGTACCTCCTTAGGTCCATC 0.443 26 78 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169446101 169446101 + Missense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr5:169446101G>T uc003maf.2 + 33 3450 c.3370G>T c.(3370-3372)GAT>TAT p.D1124Y DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.D616Y NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1124 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AAGAAGTGGGGATTTCAAAAA 0.453 85 173 --- --- --- --- PASS MAK 4117 broad.mit.edu 37 6 10764777 10764777 + Missense_Mutation SNP C G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr6:10764777C>G uc003mzl.2 - 13 2009 c.1780G>C c.(1780-1782)GCA>CCA p.A594P SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.A594P NM_005906 NP_005897 P20794 MAK_HUMAN male germ cell-associated kinase 594 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|cyclin-dependent protein kinase activity breast(2)|skin(1) 3 Breast(50;0.107)|Ovarian(93;0.107) all_hematologic(90;0.117) AGGTTTTTTGCTGTAGGATTA 0.458 71 169 --- --- --- --- PASS NEDD9 4739 broad.mit.edu 37 6 11190369 11190369 + Missense_Mutation SNP T A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr6:11190369T>A uc003mzv.2 - 5 1900 c.1733A>T c.(1732-1734)GAG>GTG p.E578V NEDD9_uc010joz.2_Missense_Mutation_p.E578V|NEDD9_uc003mzw.3_Missense_Mutation_p.E432V NM_006403 NP_006394 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally 578 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) GTGTGGGTACTCCGTTGAGTT 0.617 41 105 --- --- --- --- PASS HIVEP1 3096 broad.mit.edu 37 6 12161770 12161770 + Missense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr6:12161770G>T uc003nac.2 + 8 6765 c.6586G>T c.(6586-6588)GAC>TAC p.D2196Y HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 2196 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CGATGATGAGGACAGCCAGGC 0.478 34 83 --- --- --- --- PASS FAM8A1 51439 broad.mit.edu 37 6 17601125 17601125 + Missense_Mutation SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr6:17601125C>T uc003ncc.2 + 1 608 c.485C>T c.(484-486)GCG>GTG p.A162V NM_016255 NP_057339 Q9UBU6 FA8A1_HUMAN family with sequence similarity 8, member A1 162 integral to membrane 0 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.143) all cancers(50;0.176)|Epithelial(50;0.204) CCCCAggccgcggcgccgccg 0.632 4 19 --- --- --- --- PASS HSPA1L 3305 broad.mit.edu 37 6 31777883 31777883 + Missense_Mutation SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr6:31777883C>T uc003nxh.2 - 2 2050 c.1867G>A c.(1867-1869)GGA>AGA p.G623R HSPA1L_uc010jte.2_Missense_Mutation_p.G623R NM_005527 NP_005518 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 623 response to unfolded protein ATP binding ovary(3)|pleura(1)|kidney(1)|skin(1) 6 TACCCTGTTCCGCAGGCAGGC 0.458 27 96 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38952061 38952061 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr6:38952061G>A uc003ooe.1 + 85 12980 c.12380G>A c.(12379-12381)CGT>CAT p.R4127H DNAH8_uc003oog.1_Missense_Mutation_p.R576H NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TTTGACAAACGTCTACTTAAT 0.348 29 89 --- --- --- --- PASS GPR111 222611 broad.mit.edu 37 6 47649746 47649746 + Missense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr6:47649746G>T uc010jzj.1 + 6 1452 c.1451G>T c.(1450-1452)CGC>CTC p.R484L GPR111_uc010jzk.1_Missense_Mutation_p.R416L|GPR111_uc003oyy.2_RNA NM_153839 NP_722581 Q8IZF7 GP111_HUMAN G-protein coupled receptor 111 484 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 ACCTATTTACGCCATGTGTGC 0.468 39 132 --- --- --- --- PASS PGK2 5232 broad.mit.edu 37 6 49754437 49754437 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr6:49754437G>A uc003ozu.2 - 1 571 c.464C>T c.(463-465)TCC>TTC p.S155F NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 155 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) CCCTAGCTTGGAAAGTGATGC 0.498 40 106 --- --- --- --- PASS CNR1 1268 broad.mit.edu 37 6 88854426 88854426 + Missense_Mutation SNP G C C TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr6:88854426G>C uc011dzq.1 - 2 4131 c.568C>G c.(568-570)CTG>GTG p.L190V CNR1_uc010kbz.2_Missense_Mutation_p.L190V|CNR1_uc011dzr.1_Missense_Mutation_p.L190V|CNR1_uc011dzs.1_Missense_Mutation_p.L190V|CNR1_uc003pmq.3_Missense_Mutation_p.L190V|CNR1_uc011dzt.1_Missense_Mutation_p.L190V|CNR1_uc010kca.2_Missense_Mutation_p.L157V NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 190 Helical; Name=3; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) AGTTTGAACAGAAACACGTTG 0.577 5 56 --- --- --- --- PASS AKD1 221264 broad.mit.edu 37 6 109871346 109871346 + Missense_Mutation SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr6:109871346C>T uc003ptn.2 - 25 2988 c.2911G>A c.(2911-2913)GAA>AAA p.E971K AKD1_uc011eat.1_Missense_Mutation_p.E50K NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 971 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 AAAAACTTTTCTTTAGCCTCA 0.408 30 213 --- --- --- --- PASS SERINC1 57515 broad.mit.edu 37 6 122772854 122772854 + Missense_Mutation SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr6:122772854C>A uc003pyy.1 - 7 875 c.805G>T c.(805-807)GTC>TTC p.V269F NM_020755 NP_065806 Q9NRX5 SERC1_HUMAN serine incorporator 1 269 Helical; (Potential). phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane L-serine transmembrane transporter activity|protein binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.126) ATTGTGTAGACTGTAATTACT 0.299 3 68 --- --- --- --- PASS BCLAF1 9774 broad.mit.edu 37 6 136599751 136599751 + Silent SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr6:136599751G>T uc003qgx.1 - 4 521 c.268C>A c.(268-270)CGA>AGA p.R90R BCLAF1_uc003qgw.1_Silent_p.R90R|BCLAF1_uc003qgy.1_Silent_p.R88R|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.R88R NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 90 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TAACCACCTCGATGATATCTA 0.458 39 315 --- --- --- --- PASS OPRM1 4988 broad.mit.edu 37 6 154412554 154412554 + Missense_Mutation SNP A C C TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr6:154412554A>C uc003qpr.2 + 3 1348 c.1111A>C c.(1111-1113)AAC>CAC p.N371H OPRM1_uc011efc.1_Missense_Mutation_p.N290H|OPRM1_uc011efd.1_Missense_Mutation_p.N271H|OPRM1_uc011efe.1_Missense_Mutation_p.N464H|OPRM1_uc003qpn.2_Missense_Mutation_p.N371H|OPRM1_uc003qpo.1_Missense_Mutation_p.N371H|OPRM1_uc011eff.1_Missense_Mutation_p.N371H|OPRM1_uc011efg.1_Missense_Mutation_p.N371H|OPRM1_uc011efh.1_Missense_Mutation_p.N371H|OPRM1_uc003qpq.1_Missense_Mutation_p.N371H|OPRM1_uc003qpt.1_Missense_Mutation_p.N371H|OPRM1_uc011efi.1_Missense_Mutation_p.N371H|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.N271H|OPRM1_uc003qpu.2_Missense_Mutation_p.N271H NM_000914 NP_000905 P35372 OPRM_HUMAN opioid receptor, mu 1 isoform MOR-1 371 Cytoplasmic (Potential). behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding ovary(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) AATTCGTCAGAACACTAGAGA 0.423 12 86 --- --- --- --- PASS NPSR1 387129 broad.mit.edu 37 7 34698163 34698163 + Missense_Mutation SNP T C C TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr7:34698163T>C uc003teg.1 + 1 267 c.139T>C c.(139-141)TCC>CCC p.S47P AAA1_uc010kwo.1_Intron|AAA1_uc010kwp.1_Intron|AAA1_uc003tdz.2_Intron|AAA1_uc010kwq.1_Intron|AAA1_uc003teb.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.S47P|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.S47P|NPSR1_uc003tei.1_Missense_Mutation_p.S47P|NPSR1_uc010kww.1_Missense_Mutation_p.S47P|NPSR1_uc011kar.1_Missense_Mutation_p.S47P NM_207172 NP_997055 Q6W5P4 NPSR1_HUMAN G protein-coupled receptor for asthma 47 Extracellular (Potential). cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity skin(3)|pancreas(1) 4 Halothane(DB01159) CTTCTACTACTCCTTTAAGGT 0.453 22 98 --- --- --- --- PASS AOAH 313 broad.mit.edu 37 7 36552884 36552884 + Missense_Mutation SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr7:36552884C>A uc003tfh.3 - 21 2103 c.1702G>T c.(1702-1704)GTG>TTG p.V568L AOAH_uc010kxf.2_Missense_Mutation_p.R607S|AOAH_uc011kba.1_Missense_Mutation_p.V536L NM_001637 NP_001628 P28039 AOAH_HUMAN acyloxyacyl hydrolase precursor 568 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity skin(1) 1 TCTCCAAACACCTGTTTAATC 0.552 39 126 --- --- --- --- PASS TYW1 55253 broad.mit.edu 37 7 66474576 66474576 + Missense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr7:66474576G>T uc003tvn.2 + 4 429 c.280G>T c.(280-282)GCA>TCA p.A94S TYW1_uc010lai.2_RNA NM_018264 NP_060734 Q9NV66 TYW1_HUMAN radical S-adenosyl methionine and flavodoxin 94 Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity skin(1) 1 Lung NSC(55;0.0846)|all_lung(88;0.183) TTAGGGATTCGCAACAGTTCT 0.398 61 144 --- --- --- --- PASS TRIM50 135892 broad.mit.edu 37 7 72727109 72727109 + Missense_Mutation SNP T G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr7:72727109T>G uc010lbd.1 - 7 1397 c.1272A>C c.(1270-1272)GAA>GAC p.E424D FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.E424D|TRIM50_uc003txz.1_Missense_Mutation_p.E423D NM_178125 NP_835226 Q86XT4 TRI50_HUMAN tripartite motif protein 50A 424 B30.2/SPRY. cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding skin(1) 1 AGAAGGTGAGTTCGCCCTGCT 0.672 2 6 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82545860 82545860 + Silent SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr7:82545860C>T uc003uhx.2 - 7 11731 c.11442G>A c.(11440-11442)AAG>AAA p.K3814K PCLO_uc003uhv.2_Silent_p.K3814K|PCLO_uc010lec.2_Silent_p.K779K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3745 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTTCTCTCTCCTTTAATAGGG 0.448 32 153 --- --- --- --- PASS COL1A2 1278 broad.mit.edu 37 7 94058634 94058634 + Missense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr7:94058634G>T uc003ung.1 + 51 4317 c.3846G>T c.(3844-3846)GAG>GAT p.E1282D COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1282 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGGATGAGGAGACTGGCAACC 0.478 HNSCC(75;0.22) 49 64 --- --- --- --- PASS TRIM56 81844 broad.mit.edu 37 7 100732826 100732826 + Missense_Mutation SNP A G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr7:100732826A>G uc003uxq.2 + 3 2464 c.2233A>G c.(2233-2235)ATC>GTC p.I745V TRIM56_uc003uxr.2_Intron NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN tripartite motif-containing 56 745 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding kidney(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) TAACGGGACCATCCACATCTT 0.607 34 23 --- --- --- --- PASS CUX1 1523 broad.mit.edu 37 7 101870787 101870787 + Missense_Mutation SNP G C C TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr7:101870787G>C uc003uyx.3 + 21 3309 c.3271G>C c.(3271-3273)GAG>CAG p.E1091Q CUX1_uc003uys.3_Missense_Mutation_p.E1102Q|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 1091 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 CAAGCCACCAGAGCCCAGTGA 0.637 9 64 --- --- --- --- PASS JHDM1D 80853 broad.mit.edu 37 7 139791688 139791688 + Missense_Mutation SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr7:139791688C>T uc003vvm.2 - 19 2651 c.2647G>A c.(2647-2649)GGT>AGT p.G883S JHDM1D_uc010lng.2_RNA NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 883 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Melanoma(164;0.0142) GAAGTTTCACCAACTGGCCTT 0.502 69 80 --- --- --- --- PASS EPHB6 2051 broad.mit.edu 37 7 142562028 142562028 + Missense_Mutation SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr7:142562028C>A uc011kst.1 + 7 1257 c.470C>A c.(469-471)ACA>AAA p.T157K EPHB6_uc011ksu.1_Missense_Mutation_p.T157K|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_Intron|EPHB6_uc003wbu.2_5'UTR NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 157 Extracellular (Potential). extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) AAGGTGGACACAATTGCAGCA 0.527 31 200 --- --- --- --- PASS KEL 3792 broad.mit.edu 37 7 142640367 142640367 + Missense_Mutation SNP C A A rs138511569 TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr7:142640367C>A uc003wcb.2 - 16 1977 c.1767G>T c.(1765-1767)CAG>CAT p.Q589H NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 589 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) ACCCACAGAGCTGGTAGAAGA 0.557 21 27 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151874332 151874332 + Missense_Mutation SNP C G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr7:151874332C>G uc003wla.2 - 38 8425 c.8206G>C c.(8206-8208)GAT>CAT p.D2736H MLL3_uc003wkz.2_Missense_Mutation_p.D1797H|MLL3_uc003wky.2_Missense_Mutation_p.D245H NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2736 Asp-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TCCAAATTATCTAAAGTATCC 0.373 N medulloblastoma 6 155 --- --- --- --- PASS SNTG1 54212 broad.mit.edu 37 8 51621485 51621485 + Nonsense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr8:51621485G>T uc010lxy.1 + 18 1602 c.1231G>T c.(1231-1233)GGA>TGA p.G411* SNTG1_uc003xqs.1_Nonsense_Mutation_p.G411*|SNTG1_uc010lxz.1_Nonsense_Mutation_p.G411*|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 411 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TCATCTAATGGGACTCACAAT 0.358 5 180 --- --- --- --- PASS NCOA2 10499 broad.mit.edu 37 8 71075761 71075761 + Silent SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr8:71075761G>T uc003xyn.1 - 8 933 c.771C>A c.(769-771)CCC>CCA p.P257P NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 257 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) TTTCCTTCATGGGAACTCTTC 0.398 T RUNXBP2 AML 14 53 --- --- --- --- PASS CA3 761 broad.mit.edu 37 8 86356323 86356323 + Missense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr8:86356323G>T uc003ydj.2 + 4 495 c.412G>T c.(412-414)GAT>TAT p.D138Y CA3_uc011lfv.1_RNA NM_005181 NP_005172 P07451 CAH3_HUMAN carbonic anhydrase III 138 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding 0 GAAGCAGCGCGATGGGATCGC 0.383 35 49 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113392599 113392599 + Missense_Mutation SNP A G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr8:113392599A>G uc003ynu.2 - 38 6277 c.6118T>C c.(6118-6120)TTT>CTT p.F2040L CSMD3_uc003yns.2_Missense_Mutation_p.F1242L|CSMD3_uc003ynt.2_Missense_Mutation_p.F2000L|CSMD3_uc011lhx.1_Missense_Mutation_p.F1936L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2040 Extracellular (Potential).|CUB 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 TCAAGATGAAATCCTGCAGCA 0.274 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 3 184 --- --- --- --- PASS TRPS1 7227 broad.mit.edu 37 8 116616272 116616272 + Missense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr8:116616272G>T uc003ynz.2 - 3 2344 c.1885C>A c.(1885-1887)CTC>ATC p.L629I TRPS1_uc011lhy.1_Missense_Mutation_p.L633I|TRPS1_uc003yny.2_Missense_Mutation_p.L642I|TRPS1_uc010mcy.2_Missense_Mutation_p.L629I NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 629 C2H2-type 3; atypical. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TGAAAGAGGAGTACATCTACG 0.512 Langer-Giedion_syndrome 3 88 --- --- --- --- PASS TRPS1 7227 broad.mit.edu 37 8 116632234 116632234 + Missense_Mutation SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr8:116632234C>A uc003ynz.2 - 2 511 c.52G>T c.(52-54)GGC>TGC p.G18C TRPS1_uc011lhy.1_Missense_Mutation_p.G22C|TRPS1_uc003yny.2_Missense_Mutation_p.G31C|TRPS1_uc010mcy.2_Missense_Mutation_p.G18C NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 18 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AGGATCTGGCCCTCGCCTTCA 0.438 Langer-Giedion_syndrome 67 59 --- --- --- --- PASS TG 7038 broad.mit.edu 37 8 134030218 134030218 + Missense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr8:134030218G>T uc003ytw.2 + 38 6799 c.6758G>T c.(6757-6759)GGC>GTC p.G2253V TG_uc010mdw.2_Missense_Mutation_p.G1012V|TG_uc011ljb.1_Missense_Mutation_p.G622V|TG_uc011ljc.1_Missense_Mutation_p.G386V NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2253 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AACTGGACAGGCTCCTGGGAT 0.542 45 63 --- --- --- --- PASS PLEC 5339 broad.mit.edu 37 8 145006714 145006714 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr8:145006714G>A uc003zaf.1 - 16 2412 c.2242C>T c.(2242-2244)CGC>TGC p.R748C PLEC_uc003zab.1_Missense_Mutation_p.R611C|PLEC_uc003zac.1_Missense_Mutation_p.R615C|PLEC_uc003zad.2_Missense_Mutation_p.R611C|PLEC_uc003zae.1_Missense_Mutation_p.R579C|PLEC_uc003zag.1_Missense_Mutation_p.R589C|PLEC_uc003zah.2_Missense_Mutation_p.R597C|PLEC_uc003zaj.2_Missense_Mutation_p.R638C NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 748 Spectrin 2.|Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GACCTGAGGCGGGCCTTGGAG 0.657 3 109 --- --- --- --- PASS C9orf46 55848 broad.mit.edu 37 9 5358283 5358283 + Missense_Mutation SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr9:5358283C>T uc003zjc.2 - 6 604 c.400G>A c.(400-402)GAA>AAA p.E134K C9orf46_uc003zjd.2_Missense_Mutation_p.E134K NM_018465 NP_060935 Q9HBL7 CI046_HUMAN hypothetical protein LOC55848 134 integral to membrane ovary(1) 1 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.00106)|Lung(218;0.125) CTGGCTTTTTCAATGCTTTCA 0.348 23 61 --- --- --- --- PASS RPS6 6194 broad.mit.edu 37 9 19378869 19378869 + Silent SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr9:19378869G>A uc003znv.1 - 3 228 c.186C>T c.(184-186)CCC>CCT p.P62P RPS6_uc003znu.1_Silent_p.P31P|RPS6_uc003znw.1_Silent_p.P31P NM_001010 NP_001001 P62753 RS6_HUMAN ribosomal protein S6 62 endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding ovary(1) 1 Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255) Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234) CCTGCTTCATGGGGAAACCTT 0.448 23 33 --- --- --- --- PASS LINGO2 158038 broad.mit.edu 37 9 27949217 27949217 + Missense_Mutation SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr9:27949217C>A uc003zqu.1 - 2 1647 c.1453G>T c.(1453-1455)GCT>TCT p.A485S LINGO2_uc010mjf.1_Missense_Mutation_p.A485S|LINGO2_uc003zqv.1_Missense_Mutation_p.A485S NM_152570 NP_689783 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 485 Ig-like C2-type.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) GCATTGCTAGCGATGCAAACA 0.493 3 115 --- --- --- --- PASS FCN1 2219 broad.mit.edu 37 9 137809662 137809662 + Missense_Mutation SNP A G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr9:137809662A>G uc004cfi.2 - 1 148 c.56T>C c.(55-57)TTC>TCC p.F19S NM_002003 NP_001994 O00602 FCN1_HUMAN ficolin 1 precursor 19 opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding large_intestine(1)|ovary(1) 2 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) GATATGCAGGAACAAGACTAG 0.577 17 99 --- --- --- --- PASS SLC34A3 142680 broad.mit.edu 37 9 140130626 140130626 + Missense_Mutation SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr9:140130626C>A uc004cmf.1 + 13 1744 c.1558C>A c.(1558-1560)CCC>ACC p.P520T SLC34A3_uc011met.1_Missense_Mutation_p.P520T NM_080877 NP_543153 Q8N130 NPT2C_HUMAN solute carrier family 34 (sodium phosphate), 520 Helical; Name=M8; (Potential). cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) TGTCGGGGGTCCCCTGGTGGG 0.731 OREG0019630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 10 --- --- --- --- PASS KIAA1217 56243 broad.mit.edu 37 10 24833113 24833113 + Silent SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr10:24833113G>A uc001iru.3 + 19 5317 c.4914G>A c.(4912-4914)GTG>GTA p.V1638V KIAA1217_uc001irs.2_Intron|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Silent_p.V1321V|KIAA1217_uc001iry.2_Intron|KIAA1217_uc001isa.1_Silent_p.V474V NM_019590 NP_062536 Q5T5P2 SKT_HUMAN sickle tail isoform 1 1638 embryonic skeletal system development cytoplasm ovary(5)|skin(2) 7 AAAACACAGTGAGGAGGCAAG 0.473 24 102 --- --- --- --- PASS MYPN 84665 broad.mit.edu 37 10 69935090 69935090 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr10:69935090G>A uc001jnm.3 + 13 2760 c.2575G>A c.(2575-2577)GGA>AGA p.G859R MYPN_uc001jnn.3_Missense_Mutation_p.G584R|MYPN_uc001jno.3_Missense_Mutation_p.G859R|MYPN_uc009xpt.2_Missense_Mutation_p.G859R|MYPN_uc010qit.1_Missense_Mutation_p.G565R|MYPN_uc010qiu.1_Intron NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 859 nucleus|sarcomere actin binding ovary(3)|skin(2) 5 GCCATCCCAGGGATTAGCGAA 0.423 14 66 --- --- --- --- PASS HKDC1 80201 broad.mit.edu 37 10 71005859 71005859 + Silent SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr10:71005859G>T uc001jpf.3 + 8 1033 c.900G>T c.(898-900)CTG>CTT p.L300L HKDC1_uc010qje.1_Silent_p.L163L NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 300 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity ovary(4)|skin(1) 5 TCAGTGGCCTGTACCTGGGGG 0.532 61 104 --- --- --- --- PASS TMEM20 159371 broad.mit.edu 37 10 95660692 95660692 + Silent SNP A G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr10:95660692A>G uc001kjg.1 + 3 604 c.543A>G c.(541-543)AAA>AAG p.K181K TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Silent_p.K180K|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Silent_p.K164K|TMEM20_uc001kjj.2_Intron NM_001134658 NP_001128130 Q2M3R5 TMM20_HUMAN transmembrane protein 20 isoform 1 181 DUF6 1. integral to membrane upper_aerodigestive_tract(1) 1 Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189) STAD - Stomach adenocarcinoma(243;0.00345) TCAAGGAAAAATATAGCCCTT 0.453 47 122 --- --- --- --- PASS TACC2 10579 broad.mit.edu 37 10 123970465 123970465 + Silent SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr10:123970465G>A uc001lfv.2 + 9 6885 c.6525G>A c.(6523-6525)ACG>ACA p.T2175T TACC2_uc001lfw.2_Silent_p.T321T|TACC2_uc009xzx.2_Silent_p.T2130T|TACC2_uc010qtv.1_Silent_p.T2179T|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Silent_p.T253T|TACC2_uc001lga.2_Silent_p.T253T|TACC2_uc009xzy.2_Silent_p.T253T|TACC2_uc001lgb.2_Silent_p.T210T|TACC2_uc010qtw.1_Silent_p.T270T NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 2175 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AGACGAAAACGGAATCTGCCA 0.587 48 145 --- --- --- --- PASS NLRP14 338323 broad.mit.edu 37 11 7063963 7063963 + Missense_Mutation SNP G C C TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr11:7063963G>C uc001mfb.1 + 4 1029 c.706G>C c.(706-708)GAC>CAC p.D236H NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 236 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GATATCAAAGGACTGGCCCAG 0.418 59 110 --- --- --- --- PASS OR8H3 390152 broad.mit.edu 37 11 55890082 55890082 + Silent SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr11:55890082C>T uc001nii.1 + 1 234 c.234C>T c.(232-234)GTC>GTT p.V78V NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 78 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) CAACTGTCGTCACACCTAAAA 0.438 110 761 --- --- --- --- PASS TNKS1BP1 85456 broad.mit.edu 37 11 57088079 57088079 + Missense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr11:57088079G>T uc001njr.2 - 2 514 c.202C>A c.(202-204)CCC>ACC p.P68T TNKS1BP1_uc001njs.2_Missense_Mutation_p.P68T|TNKS1BP1_uc009ymd.1_5'UTR NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 68 Arg/Glu/Lys/Pro-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) GGACCCCGGGGAGGCCGAGGC 0.677 10 39 --- --- --- --- PASS TNKS1BP1 85456 broad.mit.edu 37 11 57088089 57088089 + Silent SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr11:57088089C>A uc001njr.2 - 2 504 c.192G>T c.(190-192)GGG>GGT p.G64G TNKS1BP1_uc001njs.2_Silent_p.G64G|TNKS1BP1_uc009ymd.1_5'UTR NM_033396 NP_203754 Q9C0C2 TB182_HUMAN tankyrase 1-binding protein 1 64 Arg/Glu/Lys/Pro-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding skin(1) 1 all_epithelial(135;0.21) GAGGCCGAGGCCCAACAGGCA 0.672 10 35 --- --- --- --- PASS LRP5 4041 broad.mit.edu 37 11 68181283 68181283 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr11:68181283G>A uc001ont.2 + 12 2705 c.2630G>A c.(2629-2631)CGG>CAG p.R877Q LRP5_uc009ysg.2_Missense_Mutation_p.R287Q NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 877 Beta-propeller 3.|LDL-receptor class B 15.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 ACTAGCGGCCGGAACCGCACC 0.577 4 93 --- --- --- --- PASS PDE2A 5138 broad.mit.edu 37 11 72292489 72292489 + Missense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr11:72292489G>T uc010rrc.1 - 23 2200 c.1957C>A c.(1957-1959)CCC>ACC p.P653T PDE2A_uc001oso.2_Missense_Mutation_p.P632T|PDE2A_uc010rra.1_Missense_Mutation_p.P646T|PDE2A_uc001osn.2_Missense_Mutation_p.P397T|PDE2A_uc010rrb.1_Missense_Mutation_p.P644T|PDE2A_uc010rrd.1_Missense_Mutation_p.P538T NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 653 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) TGGTAGGGGGGATCCCGGTAG 0.587 7 11 --- --- --- --- PASS NAALAD2 10003 broad.mit.edu 37 11 89911046 89911046 + Missense_Mutation SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr11:89911046C>A uc001pdf.3 + 16 1728 c.1619C>A c.(1618-1620)CCA>CAA p.P540Q NAALAD2_uc009yvx.2_Missense_Mutation_p.P507Q|NAALAD2_uc009yvy.2_Intron NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 540 Extracellular (Potential).|NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) AGCAGCTACCCAGTGTACCAC 0.308 56 169 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92624033 92624033 + Silent SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr11:92624033G>T uc001pdj.3 + 25 13445 c.13428G>T c.(13426-13428)CCG>CCT p.P4476P FAT3_uc001pdi.3_Silent_p.P948P NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4508 Pro-rich.|Cytoplasmic (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGGTGGGCCCGCCTGCCAGCT 0.567 TCGA Ovarian(4;0.039) 10 50 --- --- --- --- PASS TMPRSS5 80975 broad.mit.edu 37 11 113563832 113563832 + Missense_Mutation SNP C G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr11:113563832C>G uc001poc.3 - 9 1047 c.925G>C c.(925-927)GTC>CTC p.V309L TMPRSS5_uc009yys.2_Missense_Mutation_p.V300L|TMPRSS5_uc009yyt.2_Missense_Mutation_p.V265L|TMPRSS5_uc001pod.3_Missense_Mutation_p.V50L|TMPRSS5_uc010rww.1_Missense_Mutation_p.V230L|TMPRSS5_uc009yyu.2_Missense_Mutation_p.V50L|TMPRSS5_uc010rwx.1_Missense_Mutation_p.V196L NM_030770 NP_110397 Q9H3S3 TMPS5_HUMAN transmembrane protease, serine 5 309 Peptidase S1.|Extracellular (Potential). proteolysis integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity ovary(1) 1 all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502) AGGAGGGCGACGTCGTAGTCA 0.647 4 15 --- --- --- --- PASS ROBO3 64221 broad.mit.edu 37 11 124745138 124745138 + Silent SNP T A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr11:124745138T>A uc001qbc.2 + 14 2397 c.2205T>A c.(2203-2205)CCT>CCA p.P735P ROBO3_uc010saq.1_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.1_5'Flank|ROBO3_uc001qbe.2_5'Flank|ROBO3_uc001qbf.1_5'Flank NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 735 Fibronectin type-III 2.|Extracellular (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GAGGACTCCCTCCAGGGACCC 0.592 32 108 --- --- --- --- PASS OR10AD1 121275 broad.mit.edu 37 12 48596562 48596562 + Missense_Mutation SNP C G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr12:48596562C>G uc001rrl.1 - 1 514 c.514G>C c.(514-516)GAC>CAC p.D172H NM_001004134 NP_001004134 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, 172 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ATGTGGTTGTCTCTGCGGAAG 0.512 17 44 --- --- --- --- PASS CEP290 80184 broad.mit.edu 37 12 88512421 88512421 + Missense_Mutation SNP T A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr12:88512421T>A uc001tar.2 - 16 1966 c.1622A>T c.(1621-1623)GAG>GTG p.E541V CEP290_uc001tat.2_Missense_Mutation_p.E303V|CEP290_uc009zsl.1_RNA NM_025114 NP_079390 O15078 CE290_HUMAN centrosomal protein 290kDa 541 Potential. cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding ovary(5)|breast(1)|pancreas(1) 7 CACACTTGCCTCTTTCAAAAG 0.343 7 116 --- --- --- --- PASS C12orf48 55010 broad.mit.edu 37 12 102559553 102559553 + Missense_Mutation SNP A G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr12:102559553A>G uc001tjf.2 + 6 825 c.713A>G c.(712-714)TAT>TGT p.Y238C C12orf48_uc001tjg.2_Missense_Mutation_p.Y157C|C12orf48_uc010swa.1_Missense_Mutation_p.Y315C|C12orf48_uc001tjh.2_Missense_Mutation_p.Y157C|C12orf48_uc010swb.1_Missense_Mutation_p.Y124C|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Translation_Start_Site|C12orf48_uc001tjk.2_Missense_Mutation_p.Y238C|C12orf48_uc009zud.2_Missense_Mutation_p.Y238C NM_017915 NP_060385 Q9NWS1 PR1BP_HUMAN hypothetical protein LOC55010 238 response to DNA damage stimulus cytoplasm|nucleus DNA binding 0 GGGAAAGGATATGCACCACCA 0.338 70 109 --- --- --- --- PASS C12orf51 283450 broad.mit.edu 37 12 112672921 112672921 + Missense_Mutation SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr12:112672921C>T uc009zwc.2 - 30 4627 c.4609G>A c.(4609-4611)GAA>AAA p.E1537K NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GACTGGTCTTCCCGCTTGTGG 0.363 11 10 --- --- --- --- PASS GCN1L1 10985 broad.mit.edu 37 12 120606105 120606105 + Splice_Site SNP C G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr12:120606105C>G uc001txo.2 - 16 1533 c.1520_splice c.e16-1 p.E507_splice NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGTTTGGCCTCTGCAAGAAAC 0.498 48 73 --- --- --- --- PASS SACS 26278 broad.mit.edu 37 13 23915054 23915054 + Missense_Mutation SNP C G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr13:23915054C>G uc001uon.2 - 10 3550 c.2961G>C c.(2959-2961)AAG>AAC p.K987N SACS_uc001uoo.2_Missense_Mutation_p.K840N|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 987 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) AGCTAGTGGTCTTTAACTGTT 0.358 70 211 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77760022 77760022 + Missense_Mutation SNP T A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr13:77760022T>A uc001vkf.2 - 32 4405 c.4314A>T c.(4312-4314)GAA>GAT p.E1438D MYCBP2_uc010aev.2_Missense_Mutation_p.E842D NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CTGGGTAAATTTCACAGGTAT 0.368 28 42 --- --- --- --- PASS OR4K13 390433 broad.mit.edu 37 14 20502131 20502131 + Missense_Mutation SNP T A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr14:20502131T>A uc010tkz.1 - 1 787 c.787A>T c.(787-789)AGC>TGC p.S263C NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, 263 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) GAGTATCTGCTGAAGGGCCAG 0.393 5 49 --- --- --- --- PASS OR6S1 341799 broad.mit.edu 37 14 21109376 21109376 + Missense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr14:21109376G>T uc001vxv.1 - 1 475 c.475C>A c.(475-477)CTT>ATT p.L159I NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, 159 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) GTGGGACCAAGCACAGGGACG 0.617 8 35 --- --- --- --- PASS OR5AU1 390445 broad.mit.edu 37 14 21623456 21623456 + Silent SNP G C C TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr14:21623456G>C uc010tlp.1 - 1 729 c.729C>G c.(727-729)ACC>ACG p.T243T NM_001004731 NP_001004731 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, 243 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) CACACAGTGAGGTGTCTACAC 0.468 11 31 --- --- --- --- PASS MDGA2 161357 broad.mit.edu 37 14 47324244 47324244 + Missense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr14:47324244G>T uc001wwj.3 - 15 2855 c.2659C>A c.(2659-2661)CCA>ACA p.P887T MDGA2_uc001wwh.3_Missense_Mutation_p.P89T|MDGA2_uc001wwi.3_Missense_Mutation_p.P658T NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 887 MAM. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 GAAGTAATTGGGTATATATTA 0.323 12 115 --- --- --- --- PASS MTHFD1 4522 broad.mit.edu 37 14 64882081 64882081 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr14:64882081G>A uc001xhb.2 + 5 633 c.246G>A c.(244-246)ATG>ATA p.M82I MTHFD1_uc010aqe.2_Missense_Mutation_p.M118I|MTHFD1_uc010aqf.2_Missense_Mutation_p.M138I NM_005956 NP_005947 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase 1 82 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) TTTAGGTGATGAAGTACATTA 0.338 29 196 --- --- --- --- PASS PLEKHH1 57475 broad.mit.edu 37 14 68052672 68052672 + Missense_Mutation SNP T C C TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr14:68052672T>C uc001xjl.1 + 28 3933 c.3791T>C c.(3790-3792)GTG>GCG p.V1264A PLEKHH1_uc010tsw.1_Missense_Mutation_p.V832A|PLEKHH1_uc001xjn.1_Missense_Mutation_p.V779A|PLEKHH1_uc010tsx.1_Missense_Mutation_p.V129A|PLEKHH1_uc001xjo.1_Missense_Mutation_p.V129A|PLEKHH1_uc001xjp.1_Missense_Mutation_p.V129A NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H 1264 FERM. cytoskeleton binding 0 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) CCACAGCAAGTGCACATCACT 0.502 48 308 --- --- --- --- PASS ZFYVE1 53349 broad.mit.edu 37 14 73464861 73464861 + Missense_Mutation SNP A G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr14:73464861A>G uc001xnm.2 - 3 1286 c.646T>C c.(646-648)TCC>CCC p.S216P ZFYVE1_uc010arj.2_Missense_Mutation_p.S216P NM_021260 NP_067083 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 isoform 1 216 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) ACAGTGCAGGACTCCTGGGTC 0.502 9 90 --- --- --- --- PASS CYP46A1 10858 broad.mit.edu 37 14 100157471 100157471 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr14:100157471G>A uc001ygo.2 + 2 173 c.173G>A c.(172-174)CGT>CAT p.R58H CYP46A1_uc001ygn.1_Missense_Mutation_p.V6M NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46 58 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity 0 Melanoma(154;0.0866)|all_epithelial(191;0.179) GTTGGTGGCCGTGTGCTCCAA 0.498 5 275 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106780810 106780810 + RNA SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr14:106780810C>A uc010tyt.1 - 413 c.15052G>T Parts of antibodies, mostly variable regions. 0 GCACCTGGGACAGGACCACTG 0.592 9 68 --- --- --- --- PASS ASB7 140460 broad.mit.edu 37 15 101188614 101188614 + Missense_Mutation SNP C G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr15:101188614C>G uc002bwk.2 + 6 1673 c.904C>G c.(904-906)CCA>GCA p.P302A NM_198243 NP_937886 Q9H672 ASB7_HUMAN ankyrin repeat and SOCS box-containing protein 7 302 SOCS box. intracellular signal transduction skin(1) 1 Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) TGATGAACTACCAATTGCCAA 0.373 56 72 --- --- --- --- PASS CLCN7 1186 broad.mit.edu 37 16 1505780 1505780 + Missense_Mutation SNP G C C TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr16:1505780G>C uc002clv.2 - 11 1043 c.933C>G c.(931-933)AGC>AGG p.S311R CLCN7_uc002clw.2_Missense_Mutation_p.S287R NM_001287 NP_001278 P51798 CLCN7_HUMAN chloride channel 7 isoform a 311 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 Hepatocellular(780;0.0893) CCTCCTCCAAGCTGAACAGGA 0.642 5 50 --- --- --- --- PASS TXNDC11 51061 broad.mit.edu 37 16 11785786 11785786 + Silent SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr16:11785786C>A uc010buu.1 - 9 1403 c.1341G>T c.(1339-1341)GCG>GCT p.A447A TXNDC11_uc002dbg.1_Silent_p.A420A NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 447 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane 0 AGCAGGGGGACGCTGTGATCG 0.642 3 45 --- --- --- --- PASS SPNS1 83985 broad.mit.edu 37 16 28995152 28995152 + Nonsense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr16:28995152G>T uc010vdi.1 + 12 1506 c.1366G>T c.(1366-1368)GAG>TAG p.E456* uc010vct.1_Intron|SPNS1_uc002drx.2_Nonsense_Mutation_p.E383*|SPNS1_uc002dsa.2_Nonsense_Mutation_p.E456*|SPNS1_uc002drz.2_Nonsense_Mutation_p.E404*|SPNS1_uc010byp.2_Nonsense_Mutation_p.E382*|SPNS1_uc010byq.1_Intron|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank NM_001142448 NP_001135920 Q9H2V7 SPNS1_HUMAN spinster homolog 1 isoform 1 456 lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding 0 CTTCTTGTCCGAGTTCCGGGC 0.642 53 103 --- --- --- --- PASS ZNF689 115509 broad.mit.edu 37 16 30616439 30616439 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr16:30616439G>A uc002dyx.2 - 3 969 c.649C>T c.(649-651)CGC>TGC p.R217C ZNF689_uc010bzy.2_5'UTR NM_138447 NP_612456 Q96CS4 ZN689_HUMAN zinc finger protein HIT-39 217 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) AGGTTCTTGCGCTGGGAGAAA 0.612 21 118 --- --- --- --- PASS SHCBP1 79801 broad.mit.edu 37 16 46655228 46655228 + Missense_Mutation SNP G C C rs140408371 TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr16:46655228G>C uc002eec.3 - 1 84 c.44C>G c.(43-45)GCC>GGC p.A15G NM_024745 NP_079021 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 15 ovary(1)|breast(1) 2 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) CGGCGCCATGGCCGCTGCCTC 0.687 9 72 --- --- --- --- PASS CDH15 1013 broad.mit.edu 37 16 89261398 89261398 + Missense_Mutation SNP C G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr16:89261398C>G uc002fmt.2 + 14 2357 c.2280C>G c.(2278-2280)GAC>GAG p.D760E NM_004933 NP_004924 P55291 CAD15_HUMAN cadherin 15 preproprotein 760 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0261) GCGATGAGGACCAGGACTACG 0.657 5 17 --- --- --- --- PASS MYH13 8735 broad.mit.edu 37 17 10216611 10216611 + Missense_Mutation SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr17:10216611C>T uc002gmk.1 - 30 4135 c.4045G>A c.(4045-4047)GAA>AAA p.E1349K NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1349 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TCATACTGTTCCCGCAGCAGG 0.592 53 76 --- --- --- --- PASS CNTNAP1 8506 broad.mit.edu 37 17 40837084 40837084 + Missense_Mutation SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr17:40837084C>A uc002iay.2 + 4 655 c.439C>A c.(439-441)CGC>AGC p.R147S CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 147 Extracellular (Potential).|F5/8 type C. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GCGCTACATCCGCATCGTGCC 0.627 26 73 --- --- --- --- PASS CA10 56934 broad.mit.edu 37 17 49731086 49731086 + Silent SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr17:49731086G>T uc002itw.3 - 5 1463 c.477C>A c.(475-477)ATC>ATA p.I159I CA10_uc002itu.3_Silent_p.I88I|CA10_uc002itv.3_Silent_p.I165I|CA10_uc002itx.3_Silent_p.I159I|CA10_uc002ity.3_Silent_p.I159I|CA10_uc002itz.2_Silent_p.I159I NM_020178 NP_064563 Q9NS85 CAH10_HUMAN carbonic anhydrase X 159 brain development ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) GGTTATAGTGGATGAGCTGCA 0.403 23 96 --- --- --- --- PASS HELZ 9931 broad.mit.edu 37 17 65105343 65105343 + Missense_Mutation SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr17:65105343C>T uc010wqk.1 - 29 4568 c.4381G>A c.(4381-4383)GAA>AAA p.E1461K HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.E1460K|HELZ_uc010der.2_Missense_Mutation_p.E4K NM_014877 NP_055692 helicase with zinc finger domain ovary(1)|pancreas(1) 2 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) CTGTGGCCTTCTTGCAGCATG 0.517 48 87 --- --- --- --- PASS CDC42EP4 23580 broad.mit.edu 37 17 71282411 71282411 + Missense_Mutation SNP T C C TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr17:71282411T>C uc002jjn.2 - 2 376 c.229A>G c.(229-231)AGT>GGT p.S77G CDC42EP4_uc002jjo.2_Missense_Mutation_p.S77G|CDC42EP4_uc002jjp.1_Intron NM_012121 NP_036253 Q9H3Q1 BORG4_HUMAN Cdc42 effector protein 4 77 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding 0 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) GACAGGAGACTGCGTTTGGAA 0.642 24 92 --- --- --- --- PASS CDC42EP4 23580 broad.mit.edu 37 17 71282412 71282412 + Silent SNP G C C TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr17:71282412G>C uc002jjn.2 - 2 375 c.228C>G c.(226-228)CGC>CGG p.R76R CDC42EP4_uc002jjo.2_Silent_p.R76R|CDC42EP4_uc002jjp.1_Intron NM_012121 NP_036253 Q9H3Q1 BORG4_HUMAN Cdc42 effector protein 4 76 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding 0 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) ACAGGAGACTGCGTTTGGAAG 0.642 24 92 --- --- --- --- PASS NARF 26502 broad.mit.edu 37 17 80417879 80417879 + Missense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr17:80417879G>T uc002kfg.3 + 2 179 c.39G>T c.(37-39)AAG>AAT p.K13N NARF_uc002kff.3_5'UTR|NARF_uc010wvo.1_Missense_Mutation_p.K13N|NARF_uc010wvp.1_5'UTR|NARF_uc010dit.2_Missense_Mutation_p.K13N|NARF_uc002kfj.3_Missense_Mutation_p.K13N|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Missense_Mutation_p.K13N NM_012336 NP_036468 Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor isoform a 13 lamin filament lamin binding skin(1) 1 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) AATGTAGTAAGAAAACAAAAA 0.393 12 76 --- --- --- --- PASS ADCYAP1 116 broad.mit.edu 37 18 905462 905462 + Silent SNP A C C TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr18:905462A>C uc010dkg.2 + 2 194 c.75A>C c.(73-75)TCA>TCC p.S25S ADCYAP1_uc010dkh.2_Silent_p.S25S NM_001099733 NP_001093203 P18509 PACA_HUMAN adenylate cyclase activating polypeptide 25 activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|peptide hormone receptor binding 0 TCTACAGCTCACCTGCCGCCG 0.637 7 47 --- --- --- --- PASS TCEB3B 51224 broad.mit.edu 37 18 44561086 44561086 + Missense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr18:44561086G>T uc002lcr.1 - 1 903 c.550C>A c.(550-552)CCT>ACT p.P184T KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 184 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 GCGGGCTCAGGGCCCTCGGGC 0.701 35 67 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76755137 76755137 + Missense_Mutation SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr18:76755137C>A uc002lmt.2 + 2 3146 c.3146C>A c.(3145-3147)ACT>AAT p.T1049N SALL3_uc010dra.2_Missense_Mutation_p.T584N NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 1049 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) AGCCAAAGCACTCCTAGCCTG 0.547 11 65 --- --- --- --- PASS ATP8B3 148229 broad.mit.edu 37 19 1789540 1789540 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr19:1789540G>A uc002ltw.2 - 23 2899 c.2665C>T c.(2665-2667)CGT>TGT p.R889C ATP8B3_uc002ltv.2_Missense_Mutation_p.R852C|ATP8B3_uc002ltx.2_RNA NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 889 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCGGAGCTACGGCGGGCTCTG 0.692 7 15 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9049179 9049179 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr19:9049179G>A uc002mkp.2 - 5 32656 c.32452C>T c.(32452-32454)CCA>TCA p.P10818S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10820 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTTGTAGCTGGTTCACCAGGG 0.488 91 191 --- --- --- --- PASS ZNF430 80264 broad.mit.edu 37 19 21240364 21240364 + Missense_Mutation SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr19:21240364C>T uc002npj.2 + 5 1360 c.1250C>T c.(1249-1251)ACT>ATT p.T417I ZNF430_uc002npk.2_Missense_Mutation_p.T416I NM_025189 NP_079465 Q9H8G1 ZN430_HUMAN zinc finger protein 430 417 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 TCGACCCTTACTAAACATAAA 0.348 20 58 --- --- --- --- PASS TSHZ3 57616 broad.mit.edu 37 19 31769803 31769803 + Missense_Mutation SNP T G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr19:31769803T>G uc002nsy.3 - 2 961 c.896A>C c.(895-897)CAC>CCC p.H299P NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 299 C2H2-type 2. negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TTTTTGGTAGTGTTTTGTTTT 0.532 15 244 --- --- --- --- PASS FXYD3 5349 broad.mit.edu 37 19 35613674 35613674 + Missense_Mutation SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr19:35613674C>A uc010xsn.1 + 7 429 c.103C>A c.(103-105)CAC>AAC p.H35N FXYD3_uc010xsl.1_Missense_Mutation_p.H35N|FXYD3_uc010xsm.1_Missense_Mutation_p.H92N|FXYD3_uc002nxw.2_Missense_Mutation_p.H35N|FXYD3_uc002nxv.2_Missense_Mutation_p.H35N|FXYD3_uc010xso.1_Missense_Mutation_p.H35N NM_001136011 NP_001129483 Q14802 FXYD3_HUMAN FXYD domain containing ion transport regulator 3 35 Extracellular (Potential). chloride channel complex|integral to plasma membrane chloride channel activity 0 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) CCTAGACTGGCACAGCCTCCA 0.522 7 222 --- --- --- --- PASS ZFP82 284406 broad.mit.edu 37 19 36884570 36884570 + Missense_Mutation SNP T A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr19:36884570T>A uc002ody.1 - 5 907 c.672A>T c.(670-672)AAA>AAT p.K224N NM_133466 NP_597723 Q8N141 ZFP82_HUMAN zinc finger protein 82 homolog 224 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 ATTCATAGAGTTTTTCACCAG 0.408 34 383 --- --- --- --- PASS SPTBN4 57731 broad.mit.edu 37 19 41081468 41081468 + Missense_Mutation SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr19:41081468G>T uc002ony.2 + 36 7774 c.7688G>T c.(7687-7689)AGG>ATG p.R2563M SPTBN4_uc002onz.2_Missense_Mutation_p.R2563M|SPTBN4_uc010egx.2_Missense_Mutation_p.R1306M|SHKBP1_uc002oob.2_5'Flank|SHKBP1_uc002ooc.2_5'Flank|SHKBP1_uc002ood.2_5'Flank|SHKBP1_uc010xvl.1_5'Flank|SHKBP1_uc002ooe.2_5'Flank|SHKBP1_uc002oof.2_5'Flank|SHKBP1_uc010xvm.1_5'Flank NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 2563 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGCGGGCGCAGGAAGTGACTT 0.622 5 149 --- --- --- --- PASS MYH14 79784 broad.mit.edu 37 19 50780014 50780014 + Silent SNP G T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr19:50780014G>T uc002prr.1 + 27 3605 c.3558G>T c.(3556-3558)CGG>CGT p.R1186R MYH14_uc010enu.1_Silent_p.R1227R|MYH14_uc002prq.1_Silent_p.R1194R NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 1186 Potential. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) CCCAATAAAGGTCCAAGAGGG 0.557 4 87 --- --- --- --- PASS KLK7 5650 broad.mit.edu 37 19 51480876 51480876 + Silent SNP G A A rs17855561 TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr19:51480876G>A uc002puo.2 - 6 780 c.678C>T c.(676-678)TGC>TGT p.C226C KLK7_uc002pup.2_Silent_p.C226C|KLK7_uc010yco.1_Silent_p.C100C|KLK7_uc010eok.2_Silent_p.C154C NM_139277 NP_644806 P49862 KLK7_HUMAN stratum corneum chymotryptic enzyme 226 Peptidase S1. C -> W (in Ref. 6; AAH32005). epidermis development|proteolysis extracellular region serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) TGGGTTGGCCGCAAGGGAAAG 0.517 4 167 --- --- --- --- PASS COX4I2 84701 broad.mit.edu 37 20 30231265 30231265 + Nonsense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr20:30231265G>A uc002wwj.1 + 4 381 c.306G>A c.(304-306)TGG>TGA p.W102* COX4I2_uc002wwi.2_Nonsense_Mutation_p.W102* NM_032609 NP_115998 Q96KJ9 COX42_HUMAN cytochrome c oxidase subunit IV isoform 2 102 cellular respiration cytochrome-c oxidase activity ovary(1) 1 all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) CCAATGAGTGGAAGACAGTGA 0.567 55 143 --- --- --- --- PASS TMPRSS15 5651 broad.mit.edu 37 21 19715859 19715859 + Silent SNP A G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr21:19715859A>G uc002ykw.2 - 12 1423 c.1392T>C c.(1390-1392)TAT>TAC p.Y464Y NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 464 Extracellular (Potential).|MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 TTACTTGTCCATAATTCCAAT 0.279 40 50 --- --- --- --- PASS ADORA2A 135 broad.mit.edu 37 22 24837011 24837011 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr22:24837011G>A uc002zzx.2 + 5 1556 c.793G>A c.(793-795)GCC>ACC p.A265T ADORA2A_uc002zzy.3_Missense_Mutation_p.A265T|ADORA2A_uc011ajs.1_Missense_Mutation_p.A126T|ADORA2A_uc010gup.2_Missense_Mutation_p.A265T|ADORA2A_uc010guq.2_Missense_Mutation_p.A265T|ADORA2A_uc003aab.2_Missense_Mutation_p.A265T|ADORA2A_uc003aac.2_Missense_Mutation_p.A126T|C22orf45_uc003aad.1_Intron NM_000675 NP_000666 P29274 AA2AR_HUMAN adenosine A2a receptor 265 Agonist binding.|Extracellular. apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding 0 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) CTGCAGCCACGCCCCTCTCTG 0.577 16 99 --- --- --- --- PASS TTC38 55020 broad.mit.edu 37 22 46674532 46674532 + Missense_Mutation SNP G A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr22:46674532G>A uc003bhi.2 + 6 665 c.589G>A c.(589-591)GAC>AAC p.D197N TTC38_uc011aqx.1_Missense_Mutation_p.D139N NM_017931 NP_060401 Q5R3I4 TTC38_HUMAN tetratricopeptide repeat domain 38 197 TPR 2. binding ovary(1) 1 CAACTTCTACGACCAGGCAGA 0.473 6 200 --- --- --- --- PASS CPT1B 1375 broad.mit.edu 37 22 51011971 51011971 + Missense_Mutation SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr22:51011971C>T uc003bmk.3 - 9 1306 c.1144G>A c.(1144-1146)GCA>ACA p.A382T CPT1B_uc003bml.2_Missense_Mutation_p.A382T|CPT1B_uc003bmm.2_Missense_Mutation_p.A382T|CPT1B_uc003bmo.2_Missense_Mutation_p.A382T|CPT1B_uc011asa.1_Missense_Mutation_p.A348T|CPT1B_uc003bmn.2_Missense_Mutation_p.A382T|CPT1B_uc011asb.1_Intron|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.A179T NM_001145137 NP_001138609 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B isoform a 382 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1) 2 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) GTGAGGGCTGCCAGCTTCTCC 0.637 39 118 --- --- --- --- PASS PCYT1B 9468 broad.mit.edu 37 X 24597532 24597532 + Silent SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chrX:24597532C>A uc004dbi.2 - 6 842 c.609G>T c.(607-609)TCG>TCT p.S203S PCYT1B_uc004dbk.3_Silent_p.S203S|PCYT1B_uc004dbj.2_Silent_p.S185S NM_004845 NP_004836 Q9Y5K3 PCY1B_HUMAN choline phosphate cytidylyltransferase 1 beta 203 Catalytic (Potential). endoplasmic reticulum choline-phosphate cytidylyltransferase activity 0 Choline(DB00122) TAATGATGTCCGATGTTGAGA 0.433 46 81 --- --- --- --- PASS MAGEB2 4113 broad.mit.edu 37 X 30237095 30237095 + Missense_Mutation SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chrX:30237095C>A uc004dbz.2 + 2 501 c.398C>A c.(397-399)ACA>AAA p.T133K NM_002364 NP_002355 O15479 MAGB2_HUMAN melanoma antigen family B, 2 133 MAGE. protein binding ovary(1) 1 AAGTCCGTTACAAAGGGAGAA 0.458 5 22 --- --- --- --- PASS USP11 8237 broad.mit.edu 37 X 47104414 47104414 + Splice_Site SNP G C C TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chrX:47104414G>C uc004dhp.2 + 16 2216 c.2216_splice c.e16-1 p.A739_splice USP11_uc004dhq.2_Splice_Site_p.A465_splice NM_004651 NP_004642 P51784 UBP11_HUMAN ubiquitin specific peptidase 11 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1)|lung(1)|central_nervous_system(1) 3 CTCACCCCCAGCCCAGCCGTA 0.567 3 10 --- --- --- --- PASS ATRX 546 broad.mit.edu 37 X 76855029 76855029 + Missense_Mutation SNP T G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chrX:76855029T>G uc004ecp.3 - 25 6039 c.5807A>C c.(5806-5808)AAG>ACG p.K1936T ATRX_uc004ecq.3_Missense_Mutation_p.K1898T|ATRX_uc004eco.3_Missense_Mutation_p.K1721T NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1936 Poly-Lys. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TTTTTTCCCCTTTTTCCCTTT 0.318 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 81 323 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91873392 91873392 + Missense_Mutation SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chrX:91873392C>T uc004efk.1 + 7 4342 c.3497C>T c.(3496-3498)GCA>GTA p.A1166V PCDH11X_uc004efl.1_Missense_Mutation_p.A1156V|PCDH11X_uc004efo.1_Missense_Mutation_p.A1129V|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.A1158V|PCDH11X_uc004efn.1_Missense_Mutation_p.A1148V NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1166 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 TCTTCGCAAGCACAGGCCTCT 0.562 32 29 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91873712 91873712 + Missense_Mutation SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chrX:91873712C>A uc004efk.1 + 7 4662 c.3817C>A c.(3817-3819)CAA>AAA p.Q1273K PCDH11X_uc004efl.1_Missense_Mutation_p.Q1263K|PCDH11X_uc004efo.1_Missense_Mutation_p.Q1236K|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.Q1265K|PCDH11X_uc004efn.1_Missense_Mutation_p.Q1255K NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1273 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 TAGTCAGGCCCAATCATCAGT 0.542 111 110 --- --- --- --- PASS NOX1 27035 broad.mit.edu 37 X 100118222 100118222 + Missense_Mutation SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chrX:100118222C>T uc004egj.2 - 4 469 c.263G>A c.(262-264)CGC>CAC p.R88H uc010nnf.2_Intron|NOX1_uc004egl.3_Missense_Mutation_p.R88H|NOX1_uc010nne.2_Missense_Mutation_p.R51H NM_007052 NP_008983 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 isoform long 88 Cytoplasmic (Potential).|Ferric oxidoreductase. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity ovary(1) 1 TCTCAGTGTGCGGCTGCAAAA 0.433 4 158 --- --- --- --- PASS LONRF3 79836 broad.mit.edu 37 X 118147105 118147105 + Missense_Mutation SNP C T T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chrX:118147105C>T uc004eqw.2 + 9 1946 c.1915C>T c.(1915-1917)CAT>TAT p.H639Y LONRF3_uc004eqx.2_Missense_Mutation_p.H598Y|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.H383Y NM_001031855 NP_001027026 Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 639 Lon. proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1) 2 CAGGGTGCTCCATCAGAGCCA 0.507 57 51 --- --- --- --- PASS GPR112 139378 broad.mit.edu 37 X 135430461 135430461 + Silent SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chrX:135430461C>A uc004ezu.1 + 6 4887 c.4596C>A c.(4594-4596)CCC>CCA p.P1532P GPR112_uc010nsb.1_Silent_p.P1327P|GPR112_uc010nsc.1_Silent_p.P1299P NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1532 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CTGACACTCCCCCAATAGTGA 0.428 4 170 --- --- --- --- PASS CNGA2 1260 broad.mit.edu 37 X 150912664 150912664 + Nonsense_Mutation SNP C A A TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chrX:150912664C>A uc004fey.1 + 7 1913 c.1689C>A c.(1687-1689)TAC>TAA p.Y563* NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 563 cAMP (By similarity).|Cytoplasmic (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) TGACTGAGTACCCTGATGCCA 0.522 4 133 --- --- --- --- PASS PKDCC 91461 broad.mit.edu 37 2 42275911 42275912 + Frame_Shift_Ins INS - G G TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr2:42275911_42275912insG uc002rsg.2 + 1 751_752 c.572_573insG c.(571-573)CTGfs p.L191fs NM_138370 NP_612379 Q504Y2 PKDCC_HUMAN protein kinase-like protein SgK493 191 Protein kinase. cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport Golgi apparatus ATP binding|protein kinase activity breast(1) 1 TGCTATCGGCTGGCGGCCCACA 0.693 11 10 --- --- --- --- ZNF169 169841 broad.mit.edu 37 9 97062558 97062558 + Frame_Shift_Del DEL G - - TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx bfb33630-c8a8-4ec4-9eee-8bef349339ea 1dfcaaf3-04e0-4e11-ab0e-d76df375cf5e g.chr9:97062558delG uc004aum.1 + 5 823 c.718delG c.(718-720)GGGfs p.G240fs NM_194320 NP_919301 Q14929 ZN169_HUMAN zinc finger protein 169 240 C2H2-type 1. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.136) CCCTGAATGCGGGAGAGGCTT 0.517 59 36 --- --- --- ---