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 CHD5 26038 broad.mit.edu 37 1 6185836 6185836 + Silent SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr1:6185836C>T uc001amb.1 - 27 4261 c.4161G>A c.(4159-4161)CCG>CCA p.P1387P CHD5_uc001alz.1_Silent_p.P244P|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1387 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TCTGCCCTTCCGGCCTCTCTT 0.587 28 122 --- --- --- --- PASS SLC25A33 84275 broad.mit.edu 37 1 9613682 9613682 + Splice_Site SNP A C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr1:9613682A>C uc001apw.2 + 2 280 c.57_splice c.e2-2 p.G19_splice SLC25A33_uc001apx.2_Splice_Site NM_032315 NP_115691 Q9BSK2 S2533_HUMAN mitochondrial carrier protein MGC4399 transport integral to membrane|mitochondrial inner membrane 0 all_lung(157;0.246) all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419) TTTCCCTTACAGGTGTGGAGG 0.408 8 81 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39789864 39789864 + Splice_Site SNP G C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr1:39789864G>C uc010ois.1 + 35 4457 c.4252_splice c.e35-1 p.K1418_splice MACF1_uc001cda.1_Splice_Site_p.K1326_splice|MACF1_uc001cdc.1_Splice_Site_p.K505_splice|MACF1_uc009vvq.1_Splice_Site_p.K475_splice|MACF1_uc001cdb.1_Splice_Site_p.K505_splice NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 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) TCCTATTCTAGAAAGTGGTAG 0.383 4 48 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70503804 70503804 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr1:70503804C>A uc001dep.2 + 19 2213 c.2183C>A c.(2182-2184)CCA>CAA p.P728Q LRRC7_uc009wbg.2_Missense_Mutation_p.P12Q|LRRC7_uc001deq.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 728 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 AGGATTGCACCATCTTTCCCA 0.507 14 158 --- --- --- --- PASS ELTD1 64123 broad.mit.edu 37 1 79403541 79403541 + Silent SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr1:79403541G>A uc001diq.3 - 6 867 c.711C>T c.(709-711)TCC>TCT p.S237S NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 237 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GGAAGCTCTGGGATATCCTTA 0.363 15 219 --- --- --- --- PASS HMGCS2 3158 broad.mit.edu 37 1 120295955 120295955 + Silent SNP A G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr1:120295955A>G uc001eid.2 - 7 1293 c.1242T>C c.(1240-1242)TCT>TCC p.S414S HMGCS2_uc010oxj.1_Silent_p.S372S|HMGCS2_uc001eie.2_Silent_p.S322S NM_005518 NP_005509 P54868 HMCS2_HUMAN hydroxymethylglutaryl-CoA synthase 2 isoform 1 414 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity ovary(2) 2 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) CTGCTAAACCAGAGCCATAAG 0.418 4 39 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152187706 152187706 + Nonsense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr1:152187706G>T uc001ezt.1 - 3 6475 c.6399C>A c.(6397-6399)TAC>TAA p.Y2133* NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2133 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGTGTTGTCCGTAGCCAGAGG 0.567 49 586 --- --- --- --- PASS FLG2 388698 broad.mit.edu 37 1 152328052 152328052 + Missense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr1:152328052G>A uc001ezw.3 - 3 2283 c.2210C>T c.(2209-2211)TCA>TTA p.S737L uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 737 Ser-rich. 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) ACCTGAGCCTGATCCATGTTG 0.498 38 562 --- --- --- --- PASS GON4L 54856 broad.mit.edu 37 1 155783432 155783432 + Missense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr1:155783432G>A uc001flz.2 - 10 1542 c.1445C>T c.(1444-1446)TCT>TTT p.S482F GON4L_uc001fly.1_Missense_Mutation_p.S482F|GON4L_uc009wrh.1_Missense_Mutation_p.S482F|GON4L_uc001fma.1_Missense_Mutation_p.S482F|GON4L_uc001fmc.2_Missense_Mutation_p.S482F|GON4L_uc001fmd.3_Missense_Mutation_p.S482F|GON4L_uc009wri.2_Missense_Mutation_p.S68F|GON4L_uc001fme.2_Missense_Mutation_p.S310F|GON4L_uc001fmf.2_Missense_Mutation_p.S176F NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 482 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TACCTGGAAAGAATCCATGCA 0.448 17 113 --- --- --- --- PASS ARHGEF2 9181 broad.mit.edu 37 1 155934856 155934856 + Missense_Mutation SNP G C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr1:155934856G>C uc001fmt.2 - 7 765 c.647C>G c.(646-648)TCT>TGT p.S216C ARHGEF2_uc001fmr.2_Missense_Mutation_p.S188C|ARHGEF2_uc001fms.2_Missense_Mutation_p.S215C|ARHGEF2_uc001fmu.2_Missense_Mutation_p.S260C|ARHGEF2_uc010pgt.1_Missense_Mutation_p.S189C|ARHGEF2_uc010pgu.1_Missense_Mutation_p.S261C NM_001162383 NP_001155855 Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor 2 216 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding ovary(1) 1 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) AAGACTCCAAGAGTCAGCTGC 0.488 5 127 --- --- --- --- PASS IQGAP3 128239 broad.mit.edu 37 1 156510565 156510565 + Missense_Mutation SNP C G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr1:156510565C>G uc001fpf.2 - 23 2749 c.2674G>C c.(2674-2676)GAG>CAG p.E892Q NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 892 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity ovary(5)|skin(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGGTCCTGCTCCAGCTGCTGA 0.547 45 72 --- --- --- --- PASS MNDA 4332 broad.mit.edu 37 1 158813762 158813762 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr1:158813762C>A uc001fsz.1 + 4 620 c.420C>A c.(418-420)AAC>AAA p.N140K NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 140 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) AAACTCCAAACAAAGAAAAGA 0.408 8 153 --- --- --- --- PASS TMCO1 54499 broad.mit.edu 37 1 165712508 165712508 + Missense_Mutation SNP G C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr1:165712508G>C uc001gdj.3 - 6 513 c.364C>G c.(364-366)CTT>GTT p.L122V TMCO1_uc001gdl.3_Missense_Mutation_p.L38V|TMCO1_uc001gdm.3_Missense_Mutation_p.L38V|TMCO1_uc001gdk.3_Missense_Mutation_p.L110V|TMCO1_uc001gdn.3_RNA NM_019026 NP_061899 Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 122 endoplasmic reticulum membrane|Golgi membrane|integral to membrane central_nervous_system(1) 1 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) ATGTAAGAAAGAGGGGTAAAA 0.373 3 81 --- --- --- --- PASS KCNT2 343450 broad.mit.edu 37 1 196309572 196309572 + Missense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr1:196309572G>A uc001gtd.1 - 16 1742 c.1682C>T c.(1681-1683)TCA>TTA p.S561L KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.S511L|KCNT2_uc001gtf.1_Missense_Mutation_p.S561L|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.S561L|KCNT2_uc001gth.1_Missense_Mutation_p.S82L NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 561 Cytoplasmic (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 TTTAAATGCTGAATTCTCTTC 0.358 8 149 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197404300 197404300 + Missense_Mutation SNP G C C rs62636275 TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr1:197404300G>C uc001gtz.2 + 9 3442 c.3307G>C c.(3307-3309)GGA>CGA p.G1103R CRB1_uc010poz.1_Missense_Mutation_p.G1079R|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.G991R|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.G584R|CRB1_uc001gub.1_Missense_Mutation_p.G752R NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 1103 Extracellular (Potential).|Laminin G-like 3. G -> R (in LCA8 and RP12). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 AATAGAAATCGGAGGCATTTA 0.368 64 46 --- --- --- --- PASS MYBPH 4608 broad.mit.edu 37 1 203144577 203144577 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr1:203144577G>T uc001gzh.1 - 2 277 c.218C>A c.(217-219)GCC>GAC p.A73D FMOD_uc010pqi.1_Intron NM_004997 NP_004988 Q13203 MYBPH_HUMAN myosin binding protein H 73 Fibronectin type-III 1. cell adhesion|regulation of striated muscle contraction myosin filament structural constituent of muscle 0 BRCA - Breast invasive adenocarcinoma(75;0.153) Colorectal(1306;0.0306) CAGCAGTGGGGCACTGGGGAC 0.642 70 88 --- --- --- --- PASS C1orf74 148304 broad.mit.edu 37 1 209956220 209956220 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr1:209956220C>T uc001hhp.1 - 2 1003 c.760G>A c.(760-762)GAT>AAT p.D254N NM_152485 NP_689698 Q96LT6 CA074_HUMAN hypothetical protein LOC148304 254 skin(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0328) ATGCTGAGATCAGCAAAGTCA 0.478 9 171 --- --- --- --- PASS MTR 4548 broad.mit.edu 37 1 237060905 237060905 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr1:237060905G>T uc001hyi.3 + 33 4182 c.3759G>T c.(3757-3759)GAG>GAT p.E1253D MTR_uc010pxw.1_Missense_Mutation_p.E846D|MTR_uc010pxx.1_Missense_Mutation_p.E1202D|MTR_uc010pxy.1_Missense_Mutation_p.E1107D NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 1253 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) CTGAGGTTGAGAAATGGCTTG 0.348 8 265 --- --- --- --- PASS MTR 4548 broad.mit.edu 37 1 237060906 237060906 + Missense_Mutation SNP A G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr1:237060906A>G uc001hyi.3 + 33 4183 c.3760A>G c.(3760-3762)AAA>GAA p.K1254E MTR_uc010pxw.1_Missense_Mutation_p.K847E|MTR_uc010pxx.1_Missense_Mutation_p.K1203E|MTR_uc010pxy.1_Missense_Mutation_p.K1108E NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 1254 AdoMet activation. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) TGAGGTTGAGAAATGGCTTGG 0.353 8 268 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237838130 237838130 + Missense_Mutation SNP G C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr1:237838130G>C uc001hyl.1 + 60 8934 c.8814G>C c.(8812-8814)CAG>CAC p.Q2938H RYR2_uc010pxz.1_5'UTR NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2938 Modulator (Potential).|Cytoplasmic (By similarity). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAGCCCATCAGTATATCCTGG 0.418 25 24 --- --- --- --- PASS C2orf34 79823 broad.mit.edu 37 2 44617434 44617434 + Silent SNP A T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr2:44617434A>T uc002rum.2 + 3 470 c.366A>T c.(364-366)ACA>ACT p.T122T C2orf34_uc002rul.2_Silent_p.T122T NM_024766 NP_079042 Q7Z624 CMKMT_HUMAN hypothetical protein LOC79823 122 cytoplasm calmodulin-lysine N-methyltransferase activity 0 all_hematologic(82;0.0892)|Acute lymphoblastic leukemia(82;0.17) TTGACAATACAGGAAATGTTT 0.289 54 56 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 51254867 51254867 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr2:51254867C>A uc010fbq.2 - 2 2022 c.545G>T c.(544-546)GGG>GTG p.G182V NRXN1_uc002rxe.3_Missense_Mutation_p.G182V|NRXN1_uc002rxd.1_Missense_Mutation_p.G182V NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor 230 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ACGAATCCACCCCTTGAAGGG 0.697 4 21 --- --- --- --- PASS DYSF 8291 broad.mit.edu 37 2 71838722 71838722 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr2:71838722C>T uc002sie.2 + 38 4509 c.4133C>T c.(4132-4134)CCC>CTC p.P1378L DYSF_uc010feg.2_Missense_Mutation_p.P1409L|DYSF_uc010feh.2_Missense_Mutation_p.P1364L|DYSF_uc002sig.3_Missense_Mutation_p.P1364L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P1378L|DYSF_uc010fef.2_Missense_Mutation_p.P1395L|DYSF_uc010fei.2_Missense_Mutation_p.P1395L|DYSF_uc010fek.2_Missense_Mutation_p.P1396L|DYSF_uc010fej.2_Missense_Mutation_p.P1365L|DYSF_uc010fel.2_Missense_Mutation_p.P1365L|DYSF_uc010feo.2_Missense_Mutation_p.P1410L|DYSF_uc010fem.2_Missense_Mutation_p.P1379L|DYSF_uc010fen.2_Missense_Mutation_p.P1396L|DYSF_uc002sif.2_Missense_Mutation_p.P1379L|DYSF_uc010yqy.1_Missense_Mutation_p.P259L|DYSF_uc010yqz.1_Missense_Mutation_p.P118L NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1378 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CGGAAGAACCCCAACTTTGAC 0.582 28 45 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73717175 73717175 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr2:73717175C>T uc002sje.1 + 12 8203 c.8092C>T c.(8092-8094)CAT>TAT p.H2698Y ALMS1_uc002sjf.1_Missense_Mutation_p.H2654Y|ALMS1_uc002sjg.2_Missense_Mutation_p.H2084Y|ALMS1_uc002sjh.1_Missense_Mutation_p.H2084Y NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2696 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 AGTGGATTTTCATTCTTCATC 0.413 46 317 --- --- --- --- PASS C2orf55 343990 broad.mit.edu 37 2 99413924 99413924 + Silent SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr2:99413924C>T uc002szf.1 - 8 2787 c.2493G>A c.(2491-2493)CGG>CGA p.R831R NM_207362 NP_997245 Q6NV74 CB055_HUMAN hypothetical protein LOC343990 831 0 TCCGCTTCTGCCGAGTGACGG 0.612 5 158 --- --- --- --- PASS NCK2 8440 broad.mit.edu 37 2 106498233 106498233 + Missense_Mutation SNP G C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr2:106498233G>C uc002tdg.2 + 4 1118 c.676G>C c.(676-678)GAG>CAG p.E226Q NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Missense_Mutation_p.E226Q NM_003581 NP_003572 O43639 NCK2_HUMAN NCK adaptor protein 2 isoform A 226 SH3 3. axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity ovary(1)|lung(1) 2 GGAGGTGATTGAGAAGCCGGA 0.617 4 136 --- --- --- --- PASS TMEM87B 84910 broad.mit.edu 37 2 112858261 112858261 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr2:112858261C>T uc002thm.2 + 15 1808 c.1439C>T c.(1438-1440)TCT>TTT p.S480F NM_032824 NP_116213 Q96K49 TM87B_HUMAN transmembrane protein 87B precursor 480 integral to membrane 0 ATGGTAACTTCTGAAAATTTA 0.308 16 77 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 116101447 116101447 + Missense_Mutation SNP A T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr2:116101447A>T uc002tla.1 + 3 687 c.230A>T c.(229-231)AAA>ATA p.K77I DPP10_uc002tlb.1_Missense_Mutation_p.K27I|DPP10_uc002tlc.1_Missense_Mutation_p.K73I|DPP10_uc002tle.2_Missense_Mutation_p.K81I|DPP10_uc002tlf.1_Missense_Mutation_p.K70I NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 77 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 CTCTTTAGGAAAGACTTTGTG 0.338 8 100 --- --- --- --- PASS NFE2L2 4780 broad.mit.edu 37 2 178098806 178098806 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr2:178098806G>T uc002ulh.3 - 2 794 c.239C>A c.(238-240)ACA>AAA p.T80K NFE2L2_uc002ulg.3_Missense_Mutation_p.T64K|NFE2L2_uc010zfa.1_Missense_Mutation_p.T64K|NFE2L2_uc002uli.3_Missense_Mutation_p.T64K|NFE2L2_uc010fra.2_Missense_Mutation_p.T64K|NFE2L2_uc010frb.2_Missense_Mutation_p.T64K NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 80 T->A: Loss of interaction with KEAP1. transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) AAATTCACCTGTCTCTTCATC 0.443 Mis NSCLC|HNSCC HNSCC(56;0.16) 91 94 --- --- --- --- PASS DFNB59 494513 broad.mit.edu 37 2 179325085 179325085 + Silent SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr2:179325085C>T uc002umi.3 + 6 1034 c.678C>T c.(676-678)GTC>GTT p.V226V DFNB59_uc002umj.3_Silent_p.V226V NM_001042702 NP_001036167 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 226 sensory perception of sound 0 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) ACCTTTGTGTCACTTCAGTGT 0.318 9 54 --- --- --- --- PASS PDE1A 5136 broad.mit.edu 37 2 183050765 183050765 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr2:183050765C>T uc002uos.2 - 14 1502 c.1418G>A c.(1417-1419)AGA>AAA p.R473K PDE1A_uc010zfp.1_Missense_Mutation_p.R369K|PDE1A_uc002uoq.1_Missense_Mutation_p.R473K|PDE1A_uc010zfq.1_Missense_Mutation_p.R473K|PDE1A_uc002uor.2_Missense_Mutation_p.R457K|PDE1A_uc002uou.2_Missense_Mutation_p.R439K NM_001003683 NP_001003683 P54750 PDE1A_HUMAN phosphodiesterase 1A isoform 2 473 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.061) ATTTGATCGTCTTAGTGCATC 0.458 17 57 --- --- --- --- PASS ANKAR 150709 broad.mit.edu 37 2 190569787 190569787 + Missense_Mutation SNP T G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr2:190569787T>G uc002uqw.1 + 7 1534 c.1534T>G c.(1534-1536)TTA>GTA p.L512V ANKAR_uc002uqu.2_RNA NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 583 ANK 2. integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) GGCTTGCTCATTAGAAACAAC 0.423 45 77 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196602694 196602694 + Missense_Mutation SNP T G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr2:196602694T>G uc002utj.3 - 65 12127 c.12026A>C c.(12025-12027)GAA>GCA p.E4009A DNAH7_uc002uti.3_Missense_Mutation_p.E492A NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 4009 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 AATCCAGTGTTCCTTGGGTTG 0.443 37 50 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207172827 207172827 + Missense_Mutation SNP A G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr2:207172827A>G uc002vbp.2 + 5 3825 c.3575A>G c.(3574-3576)AAT>AGT p.N1192S NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1192 nucleic acid binding|zinc ion binding ovary(3) 3 GGTAAGCACAATCAATGTTGT 0.408 43 66 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211513234 211513234 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr2:211513234C>A uc002vee.3 + 27 3506 c.3374C>A c.(3373-3375)CCC>CAC p.P1125H CPS1_uc010fur.2_Missense_Mutation_p.P1131H|CPS1_uc010fus.2_Missense_Mutation_p.P674H NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1125 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GTGGACTACCCCTGCTTGTTG 0.328 56 121 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228996798 228996798 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr2:228996798G>T uc002vpq.2 - 2 83 c.36C>A c.(34-36)AAC>AAA p.N12K SPHKAP_uc002vpp.2_Missense_Mutation_p.N12K|SPHKAP_uc010zlx.1_Missense_Mutation_p.N12K NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 12 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ATGACTCCAAGTTGCTGTTTG 0.443 13 99 --- --- --- --- PASS SETD5 55209 broad.mit.edu 37 3 9506324 9506324 + Missense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr3:9506324G>A uc003brt.2 + 18 3127 c.2692G>A c.(2692-2694)GCT>ACT p.A898T SETD5_uc003brs.1_Missense_Mutation_p.A879T|SETD5_uc003bru.2_Missense_Mutation_p.A800T|SETD5_uc003brv.2_Missense_Mutation_p.A787T|SETD5_uc010hck.2_Missense_Mutation_p.A380T|SETD5_uc003brx.2_Missense_Mutation_p.A567T NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN SET domain containing 5 898 ovary(2) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) TCTTACTACTGCTAGTCGCTG 0.473 57 115 --- --- --- --- PASS BRPF1 7862 broad.mit.edu 37 3 9788941 9788941 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr3:9788941C>T uc003bse.2 + 14 3952 c.3553C>T c.(3553-3555)CGC>TGC p.R1185C BRPF1_uc003bsf.2_Missense_Mutation_p.R1191C|BRPF1_uc003bsg.2_Missense_Mutation_p.R1184C|BRPF1_uc011ati.1_Missense_Mutation_p.R1090C|OGG1_uc003bsh.2_5'Flank|OGG1_uc003bsi.2_5'Flank|OGG1_uc003bsj.2_5'Flank|OGG1_uc003bsk.2_5'Flank|OGG1_uc003bsl.2_5'Flank|OGG1_uc003bsm.2_5'Flank|OGG1_uc003bsn.2_5'Flank|OGG1_uc003bso.2_5'Flank NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 1185 histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) GTCCAACATCCGCAAGTCAGT 0.572 13 122 --- --- --- --- PASS NISCH 11188 broad.mit.edu 37 3 52522260 52522260 + Missense_Mutation SNP A T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr3:52522260A>T uc011beg.1 + 17 2824 c.2752A>T c.(2752-2754)AAC>TAC p.N918Y NISCH_uc003ded.3_Missense_Mutation_p.N918Y|NISCH_uc003dee.3_Missense_Mutation_p.N407Y|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 918 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CCAGCACCTCAACGTCATCAA 0.647 7 40 --- --- --- --- PASS ROBO2 6092 broad.mit.edu 37 3 77542433 77542433 + Missense_Mutation SNP G C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr3:77542433G>C uc003dpy.3 + 5 1349 c.706G>C c.(706-708)GTA>CTA p.V236L ROBO2_uc003dpz.2_Missense_Mutation_p.V236L|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V236L NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 236 Ig-like C2-type 3.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TAACCAGGTGGTACTGGAGGA 0.403 14 100 --- --- --- --- PASS POU1F1 5449 broad.mit.edu 37 3 87311291 87311291 + Silent SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr3:87311291G>A uc003dqq.1 - 4 659 c.534C>T c.(532-534)CTC>CTT p.L178L POU1F1_uc010hoj.1_Silent_p.L204L NM_000306 NP_000297 P28069 PIT1_HUMAN pituitary specific transcription factor 1 178 POU-specific. negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|skin(1) 2 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677) TTTTAAAGCTGAGCTGCAGAT 0.453 4 116 --- --- --- --- PASS NFKBIZ 64332 broad.mit.edu 37 3 101576185 101576185 + Missense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr3:101576185G>A uc003dvp.2 + 11 2100 c.1985G>A c.(1984-1986)CGG>CAG p.R662Q NFKBIZ_uc003dvo.2_Missense_Mutation_p.R562Q|NFKBIZ_uc010hpo.2_Missense_Mutation_p.R562Q|NFKBIZ_uc003dvq.2_Missense_Mutation_p.R540Q NM_031419 NP_113607 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene 662 Interaction with NFKB1/p50 (By similarity).|ANK 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(2) 2 TTGCAGTATCGGTTGACACAA 0.483 16 156 --- --- --- --- PASS IGSF11 152404 broad.mit.edu 37 3 118624493 118624493 + Missense_Mutation SNP G C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr3:118624493G>C uc003ebw.2 - 5 900 c.653C>G c.(652-654)TCT>TGT p.S218C IGSF11_uc011biv.1_Missense_Mutation_p.S218C|IGSF11_uc003ebx.2_Intron|IGSF11_uc003eby.2_Missense_Mutation_p.S217C|IGSF11_uc003ebz.2_Intron|IGSF11_uc010hqs.2_Missense_Mutation_p.S217C NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 218 Ig-like C2-type.|Extracellular (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 AATAGCATTAGAAGCCACGCA 0.463 7 162 --- --- --- --- PASS SLC15A2 6565 broad.mit.edu 37 3 121643880 121643880 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr3:121643880C>T uc003eep.2 + 13 1277 c.1124C>T c.(1123-1125)TCA>TTA p.S375L SLC15A2_uc011bjn.1_Missense_Mutation_p.S344L NM_021082 NP_066568 Q16348 S15A2_HUMAN peptide transporter 2 isoform a 375 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) ATTAACTTCTCGTAAGTGTTC 0.378 70 409 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G A A rs104886003 TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 48 77 --- --- --- --- PASS C3orf59 151963 broad.mit.edu 37 3 192635435 192635435 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr3:192635435G>T uc011bsp.1 - 1 516 c.195C>A c.(193-195)TTC>TTA p.F65L NM_178496 NP_848591 Q8IYB1 M21D2_HUMAN hypothetical protein LOC151963 65 0 all_cancers(143;1.56e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06) GBM - Glioblastoma multiforme(46;3.86e-05) TGGAAAAGATGAAATCCTTGG 0.453 10 137 --- --- --- --- PASS HTT 3064 broad.mit.edu 37 4 3134309 3134309 + Missense_Mutation SNP A G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr4:3134309A>G uc011bvq.1 + 18 2408 c.2263A>G c.(2263-2265)ATC>GTC p.I755V NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 753 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TGTCTCAGACATCTTGAACTA 0.478 6 42 --- --- --- --- PASS LYAR 55646 broad.mit.edu 37 4 4269734 4269734 + Missense_Mutation SNP T C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr4:4269734T>C uc011bvy.1 - 10 1165 c.1022A>G c.(1021-1023)TAC>TGC p.Y341C LYAR_uc011bvx.1_Missense_Mutation_p.Y224C|LYAR_uc003ght.2_Missense_Mutation_p.Y341C NM_001145725 NP_001139197 Q9NX58 LYAR_HUMAN Ly1 antibody reactive homolog 341 Lys-rich. nucleolus metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGTCACTGTGTAGTACTGAGC 0.353 11 38 --- --- --- --- PASS GNPDA2 132789 broad.mit.edu 37 4 44713069 44713069 + Missense_Mutation SNP A C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr4:44713069A>C uc003gwy.2 - 5 652 c.495T>G c.(493-495)GAT>GAG p.D165E GNPDA2_uc010iga.2_Missense_Mutation_p.D131E|GNPDA2_uc011bzb.1_Missense_Mutation_p.D95E|GNPDA2_uc003gwz.1_Missense_Mutation_p.D165E NM_138335 NP_612208 Q8TDQ7 GNPI2_HUMAN glucosamine-6-phosphate deaminase 2 165 N-acetylglucosamine metabolic process cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity ovary(1) 1 CCAAGATGGTATCCATTGCTA 0.403 11 78 --- --- --- --- PASS LPHN3 23284 broad.mit.edu 37 4 62903513 62903513 + Missense_Mutation SNP C G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr4:62903513C>G uc010ihh.2 + 21 3625 c.3452C>G c.(3451-3453)TCC>TGC p.S1151C LPHN3_uc003hcq.3_Missense_Mutation_p.S1151C|LPHN3_uc003hct.2_Missense_Mutation_p.S535C NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 1129 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 ACAGAGAGTTCCATTGGTTCA 0.398 13 73 --- --- --- --- PASS PPP3CA 5530 broad.mit.edu 37 4 101953522 101953522 + Splice_Site SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr4:101953522C>A uc011cen.1 - 12 1917 c.1242_splice c.e12-1 p.R414_splice PPP3CA_uc003hvu.2_Splice_Site_p.R414_splice|PPP3CA_uc010ilj.2_Splice_Site_p.R372_splice|PPP3CA_uc003hvt.2_Splice_Site_p.R401_splice|PPP3CA_uc003hvs.2_Splice_Site_p.R347_splice|PPP3CA_uc010ilk.2_Splice_Site_p.R182_splice NM_000944 NP_000935 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) ACTCTCTTCTCTGGAAGGCAC 0.453 3 17 --- --- --- --- PASS GAB1 2549 broad.mit.edu 37 4 144390314 144390314 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr4:144390314C>T uc003ije.2 + 10 2416 c.2057C>T c.(2056-2058)TCA>TTA p.S686L GAB1_uc003ijd.2_Missense_Mutation_p.S716L|GAB1_uc011chq.1_Missense_Mutation_p.S583L NM_002039 NP_002030 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 isoform b 686 cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(2)|lung(1)|skin(1) 4 all_hematologic(180;0.158) TCCACAGAATCAGAAACGCCA 0.418 5 56 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183245215 183245215 + Missense_Mutation SNP G C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr4:183245215G>C uc003ivd.1 + 1 79 c.42G>C c.(40-42)AAG>AAC p.K14N ODZ3_uc010irv.1_Missense_Mutation_p.K14N NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 14 Cytoplasmic (Potential).|Teneurin N-terminal. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CCCTGACCAAGAGCAGACGAG 0.522 3 15 --- --- --- --- PASS MTRR 4552 broad.mit.edu 37 5 7869254 7869254 + Missense_Mutation SNP C G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr5:7869254C>G uc003jed.2 + 1 38 c.8C>G c.(7-9)GCT>GGT p.A3G FASTKD3_uc011cmp.1_5'Flank|FASTKD3_uc003jeb.2_5'Flank|FASTKD3_uc003jec.2_5'Flank|MTRR_uc010itn.1_RNA|MTRR_uc003jee.3_5'UTR|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_RNA|MTRR_uc010ito.2_RNA NM_024010 NP_076915 Q9UBK8 MTRR_HUMAN methionine synthase reductase isoform 2 3 methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding ovary(1) 1 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) AGCATGGGCGCTGCGTCAGTG 0.662 40 100 --- --- --- --- PASS MARCH6 10299 broad.mit.edu 37 5 10391811 10391811 + Missense_Mutation SNP A G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr5:10391811A>G uc003jet.1 + 7 917 c.734A>G c.(733-735)GAG>GGG p.E245G MARCH6_uc011cmu.1_Missense_Mutation_p.E197G|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.E140G NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 245 Cytoplasmic (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 GCTGGTGTGGAGGATGCGGCA 0.408 3 78 --- --- --- --- PASS IQGAP2 10788 broad.mit.edu 37 5 75964666 75964666 + Missense_Mutation SNP T C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr5:75964666T>C uc003kek.2 + 23 3062 c.2840T>C c.(2839-2841)ATA>ACA p.I947T IQGAP2_uc010izv.2_Missense_Mutation_p.I500T|IQGAP2_uc011csv.1_Missense_Mutation_p.I443T|IQGAP2_uc003kel.2_Missense_Mutation_p.I443T NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 947 Ras-GAP. small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GAGGAAGAAATAAAGTATGTA 0.279 24 34 --- --- --- --- PASS F2R 2149 broad.mit.edu 37 5 76028982 76028982 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr5:76028982C>A uc003ken.3 + 2 1197 c.932C>A c.(931-933)GCT>GAT p.A311D NM_001992 NP_001983 P25116 PAR1_HUMAN coagulation factor II receptor precursor 311 Cytoplasmic (Potential). activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity ovary(3) 3 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) AAGTCCCGGGCTTTGTTCCTG 0.478 11 117 --- --- --- --- PASS THBS4 7060 broad.mit.edu 37 5 79363825 79363825 + Silent SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr5:79363825G>A uc003kgh.2 + 11 1547 c.1224G>A c.(1222-1224)CCG>CCA p.P408P uc003kgi.3_Intron NM_003248 NP_003239 P35443 TSP4_HUMAN thrombospondin 4 precursor 408 EGF-like 3; calcium-binding (Potential). endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity 0 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) CTTGTAAGCCGGGGTATACTG 0.498 21 125 --- --- --- --- PASS HAPLN1 1404 broad.mit.edu 37 5 82948291 82948291 + Silent SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr5:82948291C>A uc003kim.2 - 2 524 c.453G>T c.(451-453)GTG>GTT p.V151V HAPLN1_uc003kin.2_Silent_p.V151V NM_001884 NP_001875 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 151 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding large_intestine(3)|ovary(1)|skin(1) 5 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) CCAGTGCTACCACAACAGTAT 0.373 48 100 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90052310 90052310 + Missense_Mutation SNP A G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr5:90052310A>G uc003kju.2 + 56 11716 c.11620A>G c.(11620-11622)ATC>GTC p.I3874V GPR98_uc003kjt.2_Missense_Mutation_p.I1580V|GPR98_uc003kjv.2_Missense_Mutation_p.I1474V NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3874 Extracellular (Potential).|Calx-beta 25. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TATTGTCACTATCACTGAGGT 0.423 22 234 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127700404 127700404 + Missense_Mutation SNP C G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr5:127700404C>G uc003kuu.2 - 18 2756 c.2317G>C c.(2317-2319)GCT>CCT p.A773P FBN2_uc003kuv.2_Missense_Mutation_p.A740P NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 773 EGF-like 11; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGATCCAAAGCACATTCATTG 0.363 17 21 --- --- --- --- PASS PCDHB3 56132 broad.mit.edu 37 5 140481851 140481851 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr5:140481851G>T uc003lio.2 + 1 1618 c.1618G>T c.(1618-1620)GCT>TCT p.A540S uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 540 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGCTCCCCGGCTTTGAGCAG 0.687 10 94 --- --- --- --- PASS PCDHB7 56129 broad.mit.edu 37 5 140554673 140554673 + Silent SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr5:140554673C>T uc003lit.2 + 1 2431 c.2257C>T c.(2257-2259)CTG>TTG p.L753L PCDHB8_uc011dai.1_5'Flank NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 753 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGAGGTGTGCCTGACTGGAGG 0.582 6 210 --- --- --- --- PASS PCDHGA3 56112 broad.mit.edu 37 5 140725281 140725281 + Nonsense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr5:140725281G>T uc003ljm.1 + 1 1681 c.1681G>T c.(1681-1683)GAG>TAG p.E561* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Nonsense_Mutation_p.E321*|PCDHGA3_uc011dap.1_Nonsense_Mutation_p.E561* NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 561 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACGCGCCCGAGATCCTGTA 0.647 79 159 --- --- --- --- PASS PCDHGA5 56110 broad.mit.edu 37 5 140744557 140744557 + Silent SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr5:140744557G>A uc003lju.1 + 1 660 c.660G>A c.(658-660)CCG>CCA p.P220P PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Silent_p.P220P NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 220 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGAGACCCGGTACTCTCCG 0.572 9 98 --- --- --- --- PASS AFAP1L1 134265 broad.mit.edu 37 5 148695778 148695778 + Missense_Mutation SNP G C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr5:148695778G>C uc003lqh.2 + 11 1310 c.1179G>C c.(1177-1179)AAG>AAC p.K393N AFAP1L1_uc010jgy.2_Missense_Mutation_p.K393N|AFAP1L1_uc003lqi.1_Missense_Mutation_p.K8N NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 393 protein binding breast(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGGCCGCAAGATCACCCGTA 0.607 10 111 --- --- --- --- PASS SLC36A2 153201 broad.mit.edu 37 5 150701635 150701635 + Silent SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr5:150701635G>A uc003lty.2 - 9 1282 c.1152C>T c.(1150-1152)TCC>TCT p.S384S GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Silent_p.S186S|SLC36A2_uc010jhv.2_Silent_p.S384S NM_181776 NP_861441 Q495M3 S36A2_HUMAN solute carrier family 36, member 2 384 Helical; (Potential). cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGAGGCGAATGGACAGATCCA 0.517 9 94 --- --- --- --- PASS GABRG2 2566 broad.mit.edu 37 5 161495095 161495095 + Silent SNP G T T rs115976622 by1000genomes TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr5:161495095G>T uc003lyz.3 + 1 448 c.90G>T c.(88-90)CTG>CTT p.L30L GABRG2_uc010jjc.2_Silent_p.L30L|GABRG2_uc003lyy.3_Silent_p.L30L|GABRG2_uc011dej.1_5'UTR NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 30 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) TTCTGCTCCTGCTGTCGCTCT 0.507 10 59 --- --- --- --- PASS PROP1 5626 broad.mit.edu 37 5 177421251 177421251 + Silent SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr5:177421251C>T uc003mif.1 - 2 507 c.198G>A c.(196-198)CCG>CCA p.P66P NM_006261 NP_006252 O75360 PROP1_HUMAN PROP paired-like homeobox 1 66 central nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCGGGAGTGCGGGCGGCCCC 0.662 36 44 --- --- --- --- PASS FLT4 2324 broad.mit.edu 37 5 180043933 180043933 + Silent SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr5:180043933C>T uc003mma.3 - 22 3142 c.3063G>A c.(3061-3063)GTG>GTA p.V1021V FLT4_uc003mlz.3_Silent_p.V1021V NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 1021 Cytoplasmic (Potential).|Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) TCCCTCTGGCCACCTGGAAGC 0.612 Congenital_Hereditary_Lymphedema 14 139 --- --- --- --- PASS FLT4 2324 broad.mit.edu 37 5 180057798 180057798 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr5:180057798C>T uc003mma.3 - 3 236 c.157G>A c.(157-159)GGA>AGA p.G53R FLT4_uc003mlz.3_Missense_Mutation_p.G53R|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Missense_Mutation_p.G53R|FLT4_uc011dgz.1_Missense_Mutation_p.G53R|FLT4_uc011dha.1_Missense_Mutation_p.G53R NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 53 Ig-like C2-type 1.|Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1) 15 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GGGTGCTGTCCCCTGGCAGAG 0.677 Congenital_Hereditary_Lymphedema 4 30 --- --- --- --- PASS HIST1H2BL 8340 broad.mit.edu 37 6 27775434 27775434 + Missense_Mutation SNP T C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr6:27775434T>C uc003njl.2 - 1 276 c.251A>G c.(250-252)TAC>TGC p.Y84C HIST1H3H_uc003njm.2_5'Flank NM_003519 NP_003510 Q99880 H2B1L_HUMAN histone cluster 1, H2bl 84 nucleosome assembly nucleosome|nucleus DNA binding 0 GCGCTTGTTGTAGTGCGCCAG 0.632 42 149 --- --- --- --- PASS ZNF311 282890 broad.mit.edu 37 6 28964036 28964036 + Missense_Mutation SNP T G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr6:28964036T>G uc003nlu.2 - 7 1256 c.743A>C c.(742-744)GAA>GCA p.E248A ZNF311_uc011dlk.1_Missense_Mutation_p.E156A|ZNF311_uc003nlv.2_Missense_Mutation_p.E156A NM_001010877 NP_001010877 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 248 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 CCTGGCACATTCATGGAGTTT 0.383 51 98 --- --- --- --- PASS C6orf227 401253 broad.mit.edu 37 6 33555414 33555414 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr6:33555414C>A uc003oew.1 - 2 576 c.574G>T c.(574-576)GCA>TCA p.A192S GGNBP1_uc003oev.2_Intron NR_027908 RecName: Full=Putative uncharacterized protein C6orf227; 0 gggactgttgCAAGGACCTCC 0.274 28 49 --- --- --- --- PASS TREML2 79865 broad.mit.edu 37 6 41162281 41162281 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr6:41162281C>T uc010jxm.1 - 3 846 c.667G>A c.(667-669)GCT>ACT p.A223T NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid 223 Extracellular (Potential). T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0418)|Colorectal(47;0.196) TCTGGGCCAGCAGAGGAGTCC 0.612 21 36 --- --- --- --- PASS TTBK1 84630 broad.mit.edu 37 6 43226934 43226934 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr6:43226934C>A uc003ouq.1 + 11 1454 c.1175C>A c.(1174-1176)CCC>CAC p.P392H NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 392 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) GTCCCCCACCCCGGGGGTCCT 0.637 71 83 --- --- --- --- PASS MCM3 4172 broad.mit.edu 37 6 52131488 52131488 + Silent SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr6:52131488C>T uc003pan.1 - 15 2189 c.2079G>A c.(2077-2079)AAG>AAA p.K693K MCM3_uc011dwu.1_Silent_p.K647K NM_002388 NP_002379 P25205 MCM3_HUMAN minichromosome maintenance complex component 3 693 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding ovary(1)|lung(1)|skin(1) 3 Lung NSC(77;0.0931) GCTGGCGAGTCTTCCTTCTAA 0.488 7 348 --- --- --- --- PASS CYB5R4 51167 broad.mit.edu 37 6 84629158 84629158 + Missense_Mutation SNP A G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr6:84629158A>G uc003pkf.2 + 7 681 c.549A>G c.(547-549)ATA>ATG p.I183M NM_016230 NP_057314 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 183 CS. cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(2) 2 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) CCATTGCCATATATACTAAAC 0.209 10 15 --- --- --- --- PASS GJA10 84694 broad.mit.edu 37 6 90604309 90604309 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr6:90604309C>T uc011eaa.1 + 1 122 c.122C>T c.(121-123)GCT>GTT p.A41V NM_032602 NP_115991 Q969M2 CXA10_HUMAN gap junction protein, alpha 10 41 Extracellular (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) CGTGTGGCTGCTGAGGATGTC 0.498 10 110 --- --- --- --- PASS FHL5 9457 broad.mit.edu 37 6 97053851 97053851 + Silent SNP T C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr6:97053851T>C uc003pos.1 + 5 813 c.408T>C c.(406-408)CCT>CCC p.P136P FHL5_uc003pot.1_Silent_p.P136P NM_020482 NP_065228 Q5TD97 FHL5_HUMAN activator of cAMP-responsive element modulator 136 LIM zinc-binding 2. nucleus zinc ion binding ovary(2) 2 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) GCCGACAACCTATAGGGACAA 0.413 28 50 --- --- --- --- PASS MED23 9439 broad.mit.edu 37 6 131943099 131943099 + Missense_Mutation SNP T G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr6:131943099T>G uc003qcs.1 - 6 591 c.417A>C c.(415-417)AAA>AAC p.K139N MED23_uc003qcq.2_Missense_Mutation_p.K139N|MED23_uc003qct.1_Missense_Mutation_p.K139N|MED23_uc011ecb.1_RNA NM_004830 NP_004821 Q9ULK4 MED23_HUMAN mediator complex subunit 23 isoform a 139 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) CCAAAATCACTTTTAAGAGAT 0.383 43 79 --- --- --- --- PASS PHF10 55274 broad.mit.edu 37 6 170114900 170114900 + Silent SNP T G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr6:170114900T>G uc011egy.1 - 7 811 c.732A>C c.(730-732)CCA>CCC p.P244P PHF10_uc011egz.1_Silent_p.P242P|PHF10_uc011eha.1_Silent_p.P95P NM_018288 NP_060758 Q8WUB8 PHF10_HUMAN PHD finger protein 10 isoform a 244 SAY. nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent npBAF complex zinc ion binding urinary_tract(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176) TTCGCTCTGTTGGCAAAACTT 0.403 37 150 --- --- --- --- PASS ZFAND2A 90637 broad.mit.edu 37 7 1197328 1197328 + Silent SNP T C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr7:1197328T>C uc003skc.2 - 3 415 c.114A>G c.(112-114)CCA>CCG p.P38P ZFAND2A_uc003skd.3_Silent_p.P38P|uc003skf.1_5'Flank NM_182491 NP_872297 Q8N6M9 ZFN2A_HUMAN zinc finger, AN1-type domain 2A 38 AN1-type 1. cytoplasm|nucleus zinc ion binding ovary(1) 1 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15) GTGCAGCGTATGGAAAATGAT 0.323 67 242 --- --- --- --- PASS SKAP2 8935 broad.mit.edu 37 7 26779509 26779509 + Missense_Mutation SNP T C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr7:26779509T>C uc003syc.2 - 5 675 c.382A>G c.(382-384)AAA>GAA p.K128E SKAP2_uc011jzi.1_5'UTR|SKAP2_uc011jzj.1_Missense_Mutation_p.K113E NM_003930 NP_003921 O75563 SKAP2_HUMAN src kinase associated phosphoprotein 2 128 PH. B cell activation|cell junction assembly|protein complex assembly|signal transduction cytosol|plasma membrane SH3/SH2 adaptor activity pancreas(1) 1 AGTTTACCTTTTCTGCGTTTT 0.378 8 41 --- --- --- --- PASS CCDC129 223075 broad.mit.edu 37 7 31682945 31682945 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr7:31682945C>A uc003tcj.1 + 11 2954 c.1961C>A c.(1960-1962)ACT>AAT p.T654N CCDC129_uc011kad.1_Missense_Mutation_p.T664N|CCDC129_uc003tci.1_Missense_Mutation_p.T505N|CCDC129_uc011kae.1_Missense_Mutation_p.T680N|CCDC129_uc003tck.1_Missense_Mutation_p.T562N NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 654 0 CCTTATGCAACTGACCTTGCT 0.483 15 49 --- --- --- --- PASS ADCY1 107 broad.mit.edu 37 7 45753389 45753389 + Missense_Mutation SNP A T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr7:45753389A>T uc003tne.3 + 20 3173 c.3155A>T c.(3154-3156)TAC>TTC p.Y1052F NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 1052 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) ATGTTGACATACTTTCTAGAA 0.547 23 110 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48284194 48284194 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr7:48284194G>T uc003toq.2 + 11 1309 c.1284G>T c.(1282-1284)TTG>TTT p.L428F ABCA13_uc010kyr.2_5'UTR NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 428 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TGTGGAAATTGCAAAGCTTGC 0.388 9 49 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82457190 82457190 + Missense_Mutation SNP T A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr7:82457190T>A uc003uhx.2 - 17 14631 c.14342A>T c.(14341-14343)CAG>CTG p.Q4781L PCLO_uc003uhv.2_Missense_Mutation_p.Q4781L|PCLO_uc003uht.1_Missense_Mutation_p.Q223L|PCLO_uc003uhu.1_Missense_Mutation_p.Q202L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4643 C2 1. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTGACATACCTGTTCCATGGA 0.328 4 21 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82583709 82583709 + Missense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr7:82583709G>A uc003uhx.2 - 5 6849 c.6560C>T c.(6559-6561)TCT>TTT p.S2187F PCLO_uc003uhv.2_Missense_Mutation_p.S2187F|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2118 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CGAAGAAACAGATGATGTGAG 0.443 4 67 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88847551 88847551 + Missense_Mutation SNP A G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr7:88847551A>G uc011khi.1 + 2 729 c.191A>G c.(190-192)TAT>TGT p.Y64C NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 64 C2H2-type. intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GACAAGCAGTATCACAAACAC 0.358 HNSCC(36;0.09) 3 64 --- --- --- --- PASS ANKIB1 54467 broad.mit.edu 37 7 92027064 92027064 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr7:92027064G>T uc003ulw.2 + 19 2799 c.2423G>T c.(2422-2424)CGC>CTC p.R808L ANKIB1_uc010lew.1_Missense_Mutation_p.R77L NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 808 protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGCAGCAGCCGCAGGCCTGGC 0.473 40 156 --- --- --- --- PASS CASD1 64921 broad.mit.edu 37 7 94173810 94173810 + Missense_Mutation SNP A G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr7:94173810A>G uc003uni.3 + 11 1671 c.1444A>G c.(1444-1446)AAA>GAA p.K482E CASD1_uc003unj.3_Missense_Mutation_p.K482E NM_022900 NP_075051 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 precursor 482 Helical; (Potential). integral to membrane ovary(2) 2 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CTTTTGGATAAAAGGAGATTT 0.363 8 114 --- --- --- --- PASS PILRA 29992 broad.mit.edu 37 7 99997407 99997407 + Splice_Site SNP G C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr7:99997407G>C uc003uuo.1 + 7 1002 c.790_splice c.e7-1 p.D264_splice PILRA_uc011kjo.1_Intron|PILRA_uc003uup.1_Splice_Site_p.D191_splice|PILRA_uc003uuq.1_Splice_Site NM_013439 NP_038467 Q9UKJ1 PILRA_HUMAN paired immunoglobulin-like type 2 receptor alpha interspecies interaction between organisms extracellular region|integral to membrane|plasma membrane protein binding|receptor activity skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TTCTCGCCCAGGATGACGGCA 0.602 8 140 --- --- --- --- PASS SLC26A4 5172 broad.mit.edu 37 7 107341590 107341590 + Silent SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr7:107341590G>A uc003vep.2 + 16 1976 c.1752G>A c.(1750-1752)GCG>GCA p.A584A SLC26A4_uc011kmb.1_Silent_p.A171A|SLC26A4_uc011kmc.1_Silent_p.A145A|SLC26A4_uc011kmd.1_Silent_p.A153A NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 584 STAS.|Cytoplasmic (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 GGCTGAAAGCGCTGAGGAAAA 0.343 Pendred_syndrome 13 57 --- --- --- --- PASS DOCK4 9732 broad.mit.edu 37 7 111462433 111462433 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr7:111462433C>A uc003vfx.2 - 27 3184 c.2915G>T c.(2914-2916)CGC>CTC p.R972L DOCK4_uc003vfw.2_Missense_Mutation_p.R413L|DOCK4_uc003vfy.2_Missense_Mutation_p.R1008L NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 972 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) AGCAACCAAGCGCATAACAGT 0.373 4 14 --- --- --- --- PASS MET 4233 broad.mit.edu 37 7 116417470 116417470 + Missense_Mutation SNP C G G rs45592846 TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr7:116417470C>G uc003vij.2 + 16 3474 c.3287C>G c.(3286-3288)ACT>AGT p.T1096S MET_uc010lkh.2_Missense_Mutation_p.T1114S|MET_uc011knj.1_Missense_Mutation_p.T666S NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 1096 Protein kinase.|Cytoplasmic (Potential). axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding p.Q1029_G1105del(1) upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TATCATGGGACTTTGTTGGAC 0.343 Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 15 187 --- --- --- --- PASS RP1L1 94137 broad.mit.edu 37 8 10465017 10465017 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr8:10465017C>A uc003wtc.2 - 4 6820 c.6591G>T c.(6589-6591)GAG>GAT p.E2197D NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 2197 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CCTCTGGGGCCTCTATACCTT 0.622 94 410 --- --- --- --- PASS RP1L1 94137 broad.mit.edu 37 8 10469221 10469221 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr8:10469221G>T uc003wtc.2 - 4 2616 c.2387C>A c.(2386-2388)GCC>GAC p.A796D NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 796 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CGTGTCCCTGGCCTCTTCCCC 0.682 25 83 --- --- --- --- PASS PCM1 5108 broad.mit.edu 37 8 17804751 17804751 + Missense_Mutation SNP T A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr8:17804751T>A uc003wyi.3 + 7 1262 c.840T>A c.(838-840)CAT>CAA p.H280Q PCM1_uc011kyh.1_Missense_Mutation_p.H280Q|PCM1_uc003wyj.3_Missense_Mutation_p.H280Q|PCM1_uc003wyg.2_Missense_Mutation_p.H280Q|PCM1_uc003wyh.2_Missense_Mutation_p.H319Q|PCM1_uc010lta.1_Missense_Mutation_p.H319Q NM_006197 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 280 Potential. centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2) 36 Colorectal(111;0.0789) AGAAACAACATGATTTATTAA 0.403 T RET|JAK2 papillary thyroid|CML|MPD 15 65 --- --- --- --- PASS CLU 1191 broad.mit.edu 37 8 27457472 27457472 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr8:27457472G>T uc003xfw.1 - 6 1047 c.989C>A c.(988-990)TCC>TAC p.S330Y CLU_uc010lux.1_Missense_Mutation_p.S195Y|CLU_uc003xfx.1_Missense_Mutation_p.S330Y|CLU_uc003xfy.1_Missense_Mutation_p.S341Y|CLU_uc003xfz.1_Missense_Mutation_p.S382Y NM_203339 NP_976084 P10909 CLUS_HUMAN clusterin isoform 2 330 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding ovary(2) 2 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) GACCTGGAGGGATTCGTCGAG 0.557 5 83 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35406925 35406925 + Silent SNP C G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr8:35406925C>G uc003xjr.1 + 2 547 c.219C>G c.(217-219)CTC>CTG p.L73L UNC5D_uc003xjs.1_Silent_p.L68L NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 73 Extracellular (Potential).|Ig-like. apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CTATTGCACTCAGGTGCAAAG 0.512 13 59 --- --- --- --- PASS RAB11FIP1 80223 broad.mit.edu 37 8 37729205 37729205 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr8:37729205C>A uc003xkm.1 - 4 3159 c.3115G>T c.(3115-3117)GTG>TTG p.V1039L RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.V368L|RAB11FIP1_uc003xko.1_Missense_Mutation_p.V368L|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 1039 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) GGAGCTGTCACAGATGCCTGG 0.582 11 129 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55538558 55538558 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr8:55538558G>T uc003xsd.1 + 4 2264 c.2116G>T c.(2116-2118)GGT>TGT p.G706C RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 706 G -> R. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AAACACAAAAGGTAGAATTAC 0.363 8 32 --- --- --- --- PASS TTPA 7274 broad.mit.edu 37 8 63973891 63973891 + Missense_Mutation SNP C G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr8:63973891C>G uc003xux.1 - 5 789 c.757G>C c.(757-759)GAG>CAG p.E253Q NM_000370 NP_000361 P49638 TTPA_HUMAN tocopherol (alpha) transfer protein 253 CRAL-TRIO. lipid metabolic process transporter activity|vitamin E binding 0 Breast(64;0.0716) all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123) Vitamin E(DB00163) CAAATGTCCTCCATGGAGAAT 0.383 18 67 --- --- --- --- PASS CSPP1 79848 broad.mit.edu 37 8 68074067 68074067 + Missense_Mutation SNP A G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr8:68074067A>G uc003xxi.2 + 22 2681 c.2650A>G c.(2650-2652)ATA>GTA p.I884V CSPP1_uc003xxj.2_Missense_Mutation_p.I849V|CSPP1_uc003xxk.2_Missense_Mutation_p.I504V|CSPP1_uc010lyw.2_5'Flank NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 884 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) GCCTTCTCCTATAGTTCCTGC 0.294 17 149 --- --- --- --- PASS ZFAND1 79752 broad.mit.edu 37 8 82626221 82626221 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr8:82626221C>T uc003ycj.1 - 6 426 c.412G>A c.(412-414)GAA>AAA p.E138K ZFAND1_uc010lzx.1_Missense_Mutation_p.E138K|ZFAND1_uc003yck.1_Missense_Mutation_p.E31K NM_024699 NP_078975 Q8TCF1 ZFAN1_HUMAN zinc finger, AN1-type domain 1 138 zinc ion binding ovary(1) 1 GCAGCTGTTTCACTATTTTTG 0.338 20 82 --- --- --- --- PASS CA3 761 broad.mit.edu 37 8 86356352 86356352 + Silent SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr8:86356352G>T uc003ydj.2 + 4 524 c.441G>T c.(439-441)CTG>CTT p.L147L CA3_uc011lfv.1_RNA NM_005181 NP_005172 P07451 CAH3_HUMAN carbonic anhydrase III 147 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding 0 GCATTTTTCTGAAGGTAAAGT 0.378 6 47 --- --- --- --- PASS TTC35 9694 broad.mit.edu 37 8 109482068 109482068 + Missense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr8:109482068G>A uc003ymw.1 + 6 412 c.377G>A c.(376-378)CGT>CAT p.R126H NM_014673 NP_055488 Q15006 TTC35_HUMAN tetratricopeptide repeat domain 35 126 endoplasmic reticulum|nucleus binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(57;2.34e-10) GCAAGAAAGCGTAAGATTGCC 0.408 11 84 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113267647 113267647 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr8:113267647C>T uc003ynu.2 - 62 10031 c.9872G>A c.(9871-9873)TGT>TAT p.C3291Y CSMD3_uc003yns.2_Missense_Mutation_p.C2493Y|CSMD3_uc003ynt.2_Missense_Mutation_p.C3251Y|CSMD3_uc011lhx.1_Missense_Mutation_p.C3122Y NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3291 Extracellular (Potential).|Sushi 26. 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 AGGGTCACCACAAAACTTTGC 0.358 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 16 65 --- --- --- --- PASS NOV 4856 broad.mit.edu 37 8 120431513 120431513 + Missense_Mutation SNP T G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr8:120431513T>G uc003yoq.2 + 4 926 c.705T>G c.(703-705)TGT>TGG p.C235W NM_002514 NP_002505 P48745 NOV_HUMAN nephroblastoma overexpressed precursor 235 TSP type-1. regulation of cell growth growth factor activity|insulin-like growth factor binding ovary(2)|skin(2)|kidney(1) 5 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACCGTCAATGTGAGATGCTGA 0.547 15 196 --- --- --- --- PASS ZFAT 57623 broad.mit.edu 37 8 135614756 135614756 + Silent SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr8:135614756C>T uc003yup.2 - 6 1381 c.1206G>A c.(1204-1206)CTG>CTA p.L402L ZFAT_uc003yun.2_Silent_p.L390L|ZFAT_uc003yuo.2_Silent_p.L390L|ZFAT_uc010meh.2_Silent_p.L390L|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.L390L|ZFAT_uc010mej.2_Silent_p.L340L|ZFAT_uc003yur.2_Silent_p.L390L NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 402 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) AGTCATAGAGCAGCTGCCGCT 0.577 14 57 --- --- --- --- PASS LYNX1 66004 broad.mit.edu 37 8 143856736 143856736 + Missense_Mutation SNP C A A rs142734660 by1000genomes TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr8:143856736C>A uc003yxc.1 - 4 470 c.200G>T c.(199-201)CGC>CTC p.R67L LYNX1_uc003yxb.2_Intron|LYNX1_uc003yxd.1_Missense_Mutation_p.R67L|LYNX1_uc003yxe.1_Missense_Mutation_p.R67L NM_177476 NP_803429 Q9BZG9 LYNX1_HUMAN Ly-6 neurotoxin-like protein 1 isoform c 67 UPAR/Ly6. anchored to membrane|plasma membrane 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CTCGAAGCAGCGGGGCACGCA 0.657 6 47 --- --- --- --- PASS KIF24 347240 broad.mit.edu 37 9 34306263 34306263 + Missense_Mutation SNP T G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr9:34306263T>G uc003zua.3 - 3 920 c.800A>C c.(799-801)CAA>CCA p.Q267P KIF24_uc010mkb.2_Missense_Mutation_p.Q298P NM_194313 NP_919289 Q5T7B8 KIF24_HUMAN kinesin family member 24 267 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0107) CAGAATATATTGAGTGAGGTC 0.348 24 249 --- --- --- --- PASS TESK1 7016 broad.mit.edu 37 9 35608436 35608436 + Silent SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr9:35608436C>T uc003zxa.2 + 9 1266 c.930C>T c.(928-930)CAC>CAT p.H310H TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Silent_p.H150H NM_006285 NP_006276 Q15569 TESK1_HUMAN testis-specific protein kinase 1 310 Protein kinase. cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1) 7 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TTACCCAGCACCTGGAATGGA 0.592 15 45 --- --- --- --- PASS VPS13A 23230 broad.mit.edu 37 9 79875069 79875069 + Missense_Mutation SNP A G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr9:79875069A>G uc004akr.2 + 23 2616 c.2356A>G c.(2356-2358)ATG>GTG p.M786V VPS13A_uc004akp.3_Missense_Mutation_p.M786V|VPS13A_uc004akq.3_Missense_Mutation_p.M786V|VPS13A_uc004aks.2_Missense_Mutation_p.M786V NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 786 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 ACAAGGGATTATGGAATTGAT 0.294 28 54 --- --- --- --- PASS INVS 27130 broad.mit.edu 37 9 103014591 103014591 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr9:103014591C>A uc004bap.1 + 9 1317 c.1105C>A c.(1105-1107)CAT>AAT p.H369N INVS_uc010mta.1_Missense_Mutation_p.H273N|INVS_uc011lve.1_Missense_Mutation_p.H273N|INVS_uc004bao.1_Missense_Mutation_p.H369N|INVS_uc004baq.1_Missense_Mutation_p.H273N|INVS_uc004bar.1_Missense_Mutation_p.H273N|INVS_uc010mtb.1_Missense_Mutation_p.H43N NM_014425 NP_055240 Q9Y283 INVS_HUMAN inversin isoform a 369 ANK 11. negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.056) TCTTTCTGGCCATGTCAGCAC 0.388 6 223 --- --- --- --- PASS BMS1 9790 broad.mit.edu 37 10 43287953 43287953 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr10:43287953G>T uc001jaj.2 + 7 1150 c.792G>T c.(790-792)TTG>TTT p.L264F NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 264 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 TGGAAGATTTGACAAACCCAG 0.363 9 84 --- --- --- --- PASS OIT3 170392 broad.mit.edu 37 10 74673200 74673200 + Missense_Mutation SNP C G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr10:74673200C>G uc001jte.1 + 6 1143 c.925C>G c.(925-927)CTC>GTC p.L309V OIT3_uc009xqs.1_RNA NM_152635 NP_689848 Q8WWZ8 OIT3_HUMAN oncoprotein-induced transcript 3 precursor 309 ZP. nuclear envelope calcium ion binding ovary(2) 2 Prostate(51;0.0198) CCTCTTCTCTCTCAAGACATG 0.562 6 87 --- --- --- --- PASS IFIT2 3433 broad.mit.edu 37 10 91065931 91065931 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr10:91065931G>T uc009xts.2 + 2 393 c.218G>T c.(217-219)TGC>TTC p.C73F LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron NM_001547 NP_001538 P09913 IFIT2_HUMAN interferon-induced protein with 73 TPR 1. negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway protein binding ovary(1)|skin(1) 2 Colorectal(252;0.0161) GCCCTGGAATGCTTACGTAAA 0.483 4 59 --- --- --- --- PASS TMEM20 159371 broad.mit.edu 37 10 95660993 95660993 + Missense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr10:95660993G>A uc001kjg.1 + 3 905 c.844G>A c.(844-846)GGG>AGG p.G282R TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Missense_Mutation_p.G281R|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Missense_Mutation_p.G265R|TMEM20_uc001kjj.2_Intron NM_001134658 NP_001128130 Q2M3R5 TMM20_HUMAN transmembrane protein 20 isoform 1 282 DUF6 2. 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) GCCTTACTGTGGGTTGGACAG 0.433 11 95 --- --- --- --- PASS NFKB2 4791 broad.mit.edu 37 10 104159110 104159110 + Missense_Mutation SNP A G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr10:104159110A>G uc001kvb.2 + 13 1448 c.1183A>G c.(1183-1185)ATG>GTG p.M395V NFKB2_uc001kva.2_Missense_Mutation_p.M395V|NFKB2_uc001kvd.2_Missense_Mutation_p.M395V|NFKB2_uc009xxc.2_Missense_Mutation_p.M395V NM_001077494 NP_001070962 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene 395 Gly-rich. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity lung(3) 3 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) CGCGGGCCCCATGGGCTGCTA 0.736 T IGH@ B-NHL 6 4 --- --- --- --- PASS HSPA12A 259217 broad.mit.edu 37 10 118451905 118451905 + Nonsense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr10:118451905C>T uc001lct.2 - 6 725 c.620G>A c.(619-621)TGG>TAG p.W207* HSPA12A_uc001lcu.2_Nonsense_Mutation_p.W124* NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 207 ATP binding ovary(1) 1 all cancers(201;0.0158) CGGCTGCTTCCAGATGGCAGG 0.572 63 157 --- --- --- --- PASS OR51L1 119682 broad.mit.edu 37 11 5020860 5020860 + Silent SNP A T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr11:5020860A>T uc010qyu.1 + 1 648 c.648A>T c.(646-648)ATA>ATT p.I216I NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 216 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CAATCTTCATACTTCTTTCTT 0.413 18 68 --- --- --- --- PASS OR52W1 120787 broad.mit.edu 37 11 6220979 6220979 + Missense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr11:6220979G>A uc010qzz.1 + 1 526 c.526G>A c.(526-528)GCC>ACC p.A176T NM_001005178 NP_001005178 Q6IF63 O52W1_HUMAN olfactory receptor, family 52, subfamily W, 176 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCACTTCCAAGCCAAGACCAT 0.512 13 49 --- --- --- --- PASS LRP4 4038 broad.mit.edu 37 11 46921426 46921426 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr11:46921426C>T uc001ndn.3 - 4 564 c.418G>A c.(418-420)GAT>AAT p.D140N LRP4_uc009ylh.1_Missense_Mutation_p.D91N NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 140 Extracellular (Potential).|LDL-receptor class A 3. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) CACTGCTCATCGCTGTTGTCG 0.617 8 92 --- --- --- --- PASS OR4C13 283092 broad.mit.edu 37 11 49974527 49974527 + Missense_Mutation SNP C A A rs149246983 byFrequency TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr11:49974527C>A uc010rhz.1 + 1 553 c.553C>A c.(553-555)CTT>ATT p.L185I NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 185 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 TTTGATCAATCTTGCCTGCAC 0.438 20 190 --- --- --- --- PASS OR8H1 219469 broad.mit.edu 37 11 56058363 56058363 + Missense_Mutation SNP A G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr11:56058363A>G uc010rje.1 - 1 176 c.176T>C c.(175-177)ATG>ACG p.M59T NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 59 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 Esophageal squamous(21;0.00448) GAAAAAATACATGGGAGTGTG 0.403 78 281 --- --- --- --- PASS OR5B12 390191 broad.mit.edu 37 11 58206755 58206755 + Silent SNP C G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr11:58206755C>G uc010rkh.1 - 1 870 c.870G>C c.(868-870)CTG>CTC p.L290L NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 290 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) CTTTGTTCCTCAGGCTGTAGA 0.393 5 95 --- --- --- --- PASS GLYATL1 92292 broad.mit.edu 37 11 58723372 58723372 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr11:58723372C>T uc001nnf.2 + 8 1157 c.781C>T c.(781-783)CCA>TCA p.P261S uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.P292S|GLYATL1_uc001nni.1_Missense_Mutation_p.P261S|GLYATL1_uc001nnj.1_Missense_Mutation_p.P261S Q969I3 GLYL1_HUMAN SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a; 261 mitochondrion glycine N-acyltransferase activity ovary(1) 1 Glycine(DB00145) GAAGAATATTCCATTTTACAT 0.458 14 98 --- --- --- --- PASS NRXN2 9379 broad.mit.edu 37 11 64417958 64417958 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr11:64417958G>T uc001oar.2 - 16 3510 c.3071C>A c.(3070-3072)ACG>AAG p.T1024K NRXN2_uc001oas.2_Missense_Mutation_p.T984K|NRXN2_uc001oaq.2_Missense_Mutation_p.T691K NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 GGAGTGCTGCGTGACAGTGCG 0.602 53 234 --- --- --- --- PASS MALAT1 378938 broad.mit.edu 37 11 65273851 65273851 + RNA SNP T C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr11:65273851T>C uc010roh.1 + 1 c.8619T>C uc001ody.2_5'Flank NR_002819 Homo sapiens clone alpha1 mRNA sequence. 0 GCCTTGTCTTTTTCAGGTAAT 0.338 9 23 --- --- --- --- PASS GPR152 390212 broad.mit.edu 37 11 67219276 67219276 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr11:67219276C>A uc001olm.2 - 1 925 c.920G>T c.(919-921)CGC>CTC p.R307L uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank NM_206997 NP_996880 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 307 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GAGCACGGAGCGCAGCAGGGT 0.647 18 71 --- --- --- --- PASS SUV420H1 51111 broad.mit.edu 37 11 67925895 67925895 + Missense_Mutation SNP C G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr11:67925895C>G uc001onm.1 - 11 2174 c.1918G>C c.(1918-1920)GAC>CAC p.D640H SUV420H1_uc009yse.1_Missense_Mutation_p.D226H|SUV420H1_uc001onn.1_Missense_Mutation_p.D468H|SUV420H1_uc009ysf.2_Missense_Mutation_p.D400H NM_017635 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 isoform 640 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(2)|kidney(1) 3 GGTACCGCGTCGTCTTTTCCA 0.507 9 34 --- --- --- --- PASS PCF11 51585 broad.mit.edu 37 11 82877481 82877481 + Silent SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr11:82877481G>T uc001ozx.3 + 5 1887 c.1542G>T c.(1540-1542)TCG>TCT p.S514S PCF11_uc010rsu.1_Silent_p.S514S NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 514 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 CTCCAACATCGACACCTAAAG 0.448 3 83 --- --- --- --- PASS NLRX1 79671 broad.mit.edu 37 11 119045219 119045219 + Missense_Mutation SNP G A A rs147720831 byFrequency TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr11:119045219G>A uc001pvu.2 + 6 1122 c.907G>A c.(907-909)GTG>ATG p.V303M NLRX1_uc010rzc.1_Missense_Mutation_p.V125M|NLRX1_uc001pvv.2_Missense_Mutation_p.V303M|NLRX1_uc001pvw.2_Missense_Mutation_p.V303M|NLRX1_uc001pvx.2_Missense_Mutation_p.V303M NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN NLR family member X1 isoform 1 303 Required for interaction with MAVS.|NACHT. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding ovary(1)|skin(1) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CAGCAAGTACGTGGGCCGCTA 0.567 56 228 --- --- --- --- PASS OR10G9 219870 broad.mit.edu 37 11 123893759 123893759 + Missense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr11:123893759G>A uc010sad.1 + 1 40 c.40G>A c.(40-42)GGC>AGC p.G14S NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CATCCTCACGGGCCTTCCCCA 0.562 10 287 --- --- --- --- PASS OR10G7 390265 broad.mit.edu 37 11 123909669 123909669 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr11:123909669C>T uc001pzq.1 - 1 40 c.40G>A c.(40-42)GGC>AGC p.G14S NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TGGGGAAGGCCCGTGAGGATG 0.542 13 163 --- --- --- --- PASS ADAMTS15 170689 broad.mit.edu 37 11 130332581 130332581 + Missense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr11:130332581G>A uc010scd.1 + 4 1448 c.1448G>A c.(1447-1449)CGC>CAC p.R483H NM_139055 NP_620686 Q8TE58 ATS15_HUMAN a disintegrin-like and metalloprotease 483 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(2)|pancreas(1)|lung(1)|skin(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) TGCCAGACCCGCCACTTCCCC 0.622 12 88 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 993323 993323 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr12:993323C>T uc001qio.3 + 18 4265 c.3758C>T c.(3757-3759)TCT>TTT p.S1253F WNK1_uc001qip.3_Missense_Mutation_p.S1006F|WNK1_uc001qir.3_Missense_Mutation_p.S426F NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1253 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GTTGTTCATTCTGCGGGAAGG 0.363 19 141 --- --- --- --- PASS LPCAT3 10162 broad.mit.edu 37 12 7091877 7091877 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr12:7091877C>T uc001qsi.2 - 3 440 c.326G>A c.(325-327)CGC>CAC p.R109H EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.1_Missense_Mutation_p.R3H|LPCAT3_uc009zfp.2_RNA|LPCAT3_uc010sfx.1_RNA|LPCAT3_uc009zfq.1_Intron NM_005768 NP_005759 Q6P1A2 MBOA5_HUMAN lysophosphatidylcholine acyltransferase 3 109 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity ovary(1) 1 AGTGATGGTGCGGCCCATTAG 0.502 35 71 --- --- --- --- PASS TBC1D15 64786 broad.mit.edu 37 12 72266713 72266713 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr12:72266713C>T uc001swu.2 + 3 209 c.200C>T c.(199-201)GCC>GTC p.A67V TBC1D15_uc009zrv.2_5'UTR|TBC1D15_uc010stt.1_Missense_Mutation_p.A53V|TBC1D15_uc001swv.2_Missense_Mutation_p.A67V|TBC1D15_uc001sww.2_5'UTR NM_022771 NP_073608 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 isoform 1 45 protein binding|Rab GTPase activator activity 0 CTCTAGGATGCCGAAGTAATA 0.308 13 176 --- --- --- --- PASS TBC1D15 64786 broad.mit.edu 37 12 72266722 72266722 + Missense_Mutation SNP T A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr12:72266722T>A uc001swu.2 + 3 218 c.209T>A c.(208-210)ATA>AAA p.I70K TBC1D15_uc009zrv.2_5'UTR|TBC1D15_uc010stt.1_Missense_Mutation_p.I56K|TBC1D15_uc001swv.2_Missense_Mutation_p.I70K|TBC1D15_uc001sww.2_5'UTR NM_022771 NP_073608 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 isoform 1 48 protein binding|Rab GTPase activator activity 0 GCCGAAGTAATAGTGGACTGG 0.303 12 186 --- --- --- --- PASS TMTC3 160418 broad.mit.edu 37 12 88589318 88589318 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr12:88589318C>A uc001tau.2 + 14 2857 c.2637C>A c.(2635-2637)GAC>GAA p.D879E NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat 880 integral to membrane binding skin(1) 1 AAAATGGAGACGAAGAGACAC 0.308 31 52 --- --- --- --- PASS TMTC3 160418 broad.mit.edu 37 12 88589319 88589319 + Missense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr12:88589319G>A uc001tau.2 + 14 2858 c.2638G>A c.(2638-2640)GAA>AAA p.E880K NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat 881 integral to membrane binding skin(1) 1 AAATGGAGACGAAGAGACACC 0.313 31 49 --- --- --- --- PASS CRY1 1407 broad.mit.edu 37 12 107391697 107391697 + Missense_Mutation SNP T C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr12:107391697T>C uc001tmi.3 - 8 2144 c.1285A>G c.(1285-1287)ATC>GTC p.I429V NM_004075 NP_004066 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 429 Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).|FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding ovary(3) 3 ATTTACCTGATATAGTCTCCA 0.373 7 68 --- --- --- --- PASS MAB21L1 4081 broad.mit.edu 37 13 36050132 36050132 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr13:36050132C>A uc001uvc.2 - 1 701 c.144G>T c.(142-144)CAG>CAT p.Q48H NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank NM_005584 NP_005575 Q13394 MB211_HUMAN mab-21-like protein 1 48 anatomical structure morphogenesis nucleus ovary(2) 2 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) ACCGCGGCTCCTGCACTTCCA 0.512 41 96 --- --- --- --- PASS FAM48A 55578 broad.mit.edu 37 13 37605726 37605726 + Nonsense_Mutation SNP A T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr13:37605726A>T uc001uwg.2 - 12 1147 c.899T>A c.(898-900)TTG>TAG p.L300* FAM48A_uc010abt.2_Nonsense_Mutation_p.L301*|FAM48A_uc001uwh.2_Nonsense_Mutation_p.L301*|FAM48A_uc001uwi.2_Nonsense_Mutation_p.L300*|FAM48A_uc001uwj.2_Nonsense_Mutation_p.L301*|FAM48A_uc001uwk.2_Nonsense_Mutation_p.L300*|FAM48A_uc010tes.1_Nonsense_Mutation_p.L288*|FAM48A_uc001uwl.1_Nonsense_Mutation_p.L300* NM_001014286 NP_001014308 Q8NEM7 FA48A_HUMAN family with sequence similarity 48, member A 300 autophagy|gastrulation SAGA-type complex protein binding 0 Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959) all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477) AGGTATGGCCAAATTACAGGG 0.279 22 48 --- --- --- --- PASS PCDH8 5100 broad.mit.edu 37 13 53420719 53420719 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr13:53420719G>T uc001vhi.2 - 1 2056 c.1853C>A c.(1852-1854)TCC>TAC p.S618Y PCDH8_uc001vhj.2_Missense_Mutation_p.S618Y NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 618 Extracellular (Potential).|Cadherin 6. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CACTTCTAGGGAGCCATTGGC 0.682 3 4 --- --- --- --- PASS C14orf106 55320 broad.mit.edu 37 14 45715975 45715975 + Missense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr14:45715975G>A uc001wwf.2 - 2 974 c.515C>T c.(514-516)TCA>TTA p.S172L C14orf106_uc010anh.2_RNA NM_018353 NP_060823 Q6P0N0 M18BP_HUMAN chromosome 14 open reading frame 106 172 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding 0 TGACTGGAATGATTTGTTGTT 0.284 16 134 --- --- --- --- PASS NID2 22795 broad.mit.edu 37 14 52485899 52485899 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr14:52485899G>T uc001wzo.2 - 14 3142 c.2908C>A c.(2908-2910)CTG>ATG p.L970M NID2_uc010tqs.1_Missense_Mutation_p.L922M|NID2_uc010tqt.1_Missense_Mutation_p.L970M|NID2_uc001wzp.2_Missense_Mutation_p.L970M NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 970 Thyroglobulin type-1 1. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) TGTAGGGGCAGGAAGTTGCCC 0.627 10 38 --- --- --- --- PASS EML5 161436 broad.mit.edu 37 14 89154734 89154734 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr14:89154734C>T uc001xxg.2 - 19 2809 c.2623G>A c.(2623-2625)GAA>AAA p.E875K EML5_uc001xxh.1_Intron NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 875 WD 14. cytoplasm|microtubule ovary(3) 3 GCCATCTCTTCAGTCCATCCA 0.433 36 281 --- --- --- --- PASS OR4N4 283694 broad.mit.edu 37 15 22383152 22383152 + Missense_Mutation SNP G T T rs148284064 TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr15:22383152G>T uc001yuc.1 + 7 1661 c.680G>T c.(679-681)AGG>ATG p.R227M LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.R227M NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CATGTTCGTAGGGCAGCTTCT 0.493 28 37 --- --- --- --- PASS SCG5 6447 broad.mit.edu 37 15 32972055 32972055 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr15:32972055G>T uc001zha.2 + 3 432 c.315G>T c.(313-315)AAG>AAT p.K105N SCG5_uc001zgz.2_Missense_Mutation_p.K105N NM_001144757 NP_001138229 P05408 7B2_HUMAN secretogranin V isoform 1 105 intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion extracellular region|stored secretory granule enzyme inhibitor activity|GTP binding|unfolded protein binding 0 all_lung(180;7.32e-08) all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212) ACATTCCTAAGGACTTTAGTG 0.498 21 220 --- --- --- --- PASS SLC27A2 11001 broad.mit.edu 37 15 50489802 50489802 + Missense_Mutation SNP T C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr15:50489802T>C uc001zxw.2 + 2 816 c.584T>C c.(583-585)CTG>CCG p.L195P SLC27A2_uc010bes.2_Missense_Mutation_p.L195P|SLC27A2_uc001zxx.2_5'UTR NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid 195 Lumenal (Potential). bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity ovary(1)|skin(1) 2 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) GACTCTTTCCTGGACAAAGTG 0.423 13 96 --- --- --- --- PASS ONECUT1 3175 broad.mit.edu 37 15 53081625 53081625 + Missense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr15:53081625G>A uc002aci.1 - 1 585 c.457C>T c.(457-459)CGG>TGG p.R153W NM_004498 NP_004489 Q9UBC0 HNF6_HUMAN one cut homeobox 1 153 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding 0 all cancers(107;0.0708) CGCTCATCCCGCATGAGCGTG 0.502 4 90 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54305472 54305472 + Silent SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr15:54305472G>A uc002ack.2 + 1 372 c.372G>A c.(370-372)GAG>GAA p.E124E NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 124 Potential. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CTTCAATCGAGAGTTCCTACT 0.408 11 30 --- --- --- --- PASS BCL2A1 597 broad.mit.edu 37 15 80263061 80263061 + Missense_Mutation SNP A C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr15:80263061A>C uc002bfc.3 - 1 583 c.401T>G c.(400-402)ATA>AGA p.I134R BCL2A1_uc002bfd.3_Missense_Mutation_p.I134R NM_004049 NP_004040 Q16548 B2LA1_HUMAN BCL2-related protein A1 isoform 1 134 BH2. anti-apoptosis|apoptosis cytoplasm protein binding pancreas(1) 1 GTTTTGCCTTATCCATTCTCC 0.373 13 201 --- --- --- --- PASS KLHL25 64410 broad.mit.edu 37 15 86312069 86312069 + Missense_Mutation SNP C A A rs139382084 TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr15:86312069C>A uc002bly.2 - 2 1176 c.973G>T c.(973-975)GAC>TAC p.D325Y NM_022480 NP_071925 Q9H0H3 ENC2_HUMAN BTB/POZ KELCH domain protein 325 Kelch 1. cytoplasm ovary(2) 2 CTGGGCAGGTCGGCCTTGGGG 0.632 17 33 --- --- --- --- PASS OR4F15 390649 broad.mit.edu 37 15 102358392 102358392 + Missense_Mutation SNP G C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr15:102358392G>C uc010uts.1 + 1 3 c.3G>C c.(1-3)ATG>ATC p.M1I NM_001001674 NP_001001674 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, 1 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) CTGAGGCAATGAATGGAATGA 0.368 14 164 --- --- --- --- PASS MAPK8IP3 23162 broad.mit.edu 37 16 1810516 1810516 + Silent SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr16:1810516G>T uc002cmk.2 + 12 1557 c.1437G>T c.(1435-1437)CTG>CTT p.L479L MAPK8IP3_uc002cml.2_Silent_p.L473L|MAPK8IP3_uc010uvl.1_Silent_p.L480L NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 479 Potential. vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 TCAAGGAGCTGGAAGAGGAAC 0.617 6 108 --- --- --- --- PASS MAPK8IP3 23162 broad.mit.edu 37 16 1810517 1810517 + Nonsense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr16:1810517G>T uc002cmk.2 + 12 1558 c.1438G>T c.(1438-1440)GAA>TAA p.E480* MAPK8IP3_uc002cml.2_Nonsense_Mutation_p.E474*|MAPK8IP3_uc010uvl.1_Nonsense_Mutation_p.E481* NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 480 Potential. vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 CAAGGAGCTGGAAGAGGAACT 0.612 6 107 --- --- --- --- PASS TMC5 79838 broad.mit.edu 37 16 19451611 19451611 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr16:19451611C>T uc002dgc.3 + 3 1000 c.251C>T c.(250-252)TCT>TTT p.S84F TMC5_uc010vaq.1_Missense_Mutation_p.S84F|TMC5_uc002dgb.3_Missense_Mutation_p.S84F|TMC5_uc010var.1_Missense_Mutation_p.S84F NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 isoform a 84 Extracellular (Potential). integral to membrane skin(1) 1 CCAGACTATTCTGGCACCAGA 0.478 27 120 --- --- --- --- PASS C16orf62 57020 broad.mit.edu 37 16 19711758 19711758 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr16:19711758C>T uc002dgn.1 + 31 2864 c.2852C>T c.(2851-2853)ACG>ATG p.T951M C16orf62_uc002dgo.1_Missense_Mutation_p.T858M|C16orf62_uc002dgp.1_Missense_Mutation_p.T700M NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN hypothetical protein LOC57020 951 integral to membrane ovary(1) 1 ACTCATCTGACGGAGCTGGCC 0.502 22 61 --- --- --- --- PASS SETD1A 9739 broad.mit.edu 37 16 30994981 30994981 + Missense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr16:30994981G>A uc002ead.1 + 18 5524 c.4838G>A c.(4837-4839)CGC>CAC p.R1613H HSD3B7_uc002eaf.2_5'Flank|HSD3B7_uc010cac.2_5'Flank|HSD3B7_uc002eag.2_5'Flank|HSD3B7_uc002eah.2_5'Flank NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 1613 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 CGGGAGAAGCGCTACGTGCAG 0.622 7 16 --- --- --- --- PASS SNX20 124460 broad.mit.edu 37 16 50709793 50709793 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr16:50709793G>T uc002egk.2 - 3 343 c.170C>A c.(169-171)ACG>AAG p.T57K SNX20_uc010vgp.1_Missense_Mutation_p.T57K|SNX20_uc002egi.3_Missense_Mutation_p.T57K NM_182854 NP_878274 Q7Z614 SNX20_HUMAN sorting nexin 20 isoform 1 57 cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding ovary(1) 1 AAGCTCCCGCGTGGTCATGCT 0.552 38 87 --- --- --- --- PASS GOT2 2806 broad.mit.edu 37 16 58750585 58750585 + Missense_Mutation SNP T C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr16:58750585T>C uc002eof.1 - 7 949 c.835A>G c.(835-837)AAG>GAG p.K279E GOT2_uc010vim.1_Missense_Mutation_p.K236E NM_002080 NP_002071 P00505 AATM_HUMAN aspartate aminotransferase 2 precursor 279 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CCCATGTTCTTGGCATATGAT 0.473 25 52 --- --- --- --- PASS DPEP2 64174 broad.mit.edu 37 16 68021501 68021501 + Missense_Mutation SNP G C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr16:68021501G>C uc010cey.2 - 10 1533 c.1369C>G c.(1369-1371)CCA>GCA p.P457A DPEP2_uc002evd.3_Missense_Mutation_p.P462A|DPEP2_uc002eve.2_Missense_Mutation_p.P457A|DPEP2_uc002evf.2_RNA NM_022355 NP_071750 Q9H4A9 DPEP2_HUMAN dipeptidase 2 precursor 457 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) CACTTGGCTGGTAACTTGGCT 0.567 71 153 --- --- --- --- PASS ADAMTS18 170692 broad.mit.edu 37 16 77396100 77396100 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr16:77396100G>T uc002ffc.3 - 7 1537 c.1118C>A c.(1117-1119)TCT>TAT p.S373Y ADAMTS18_uc010chc.1_Translation_Start_Site|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S69Y|ADAMTS18_uc010vni.1_Intron NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 373 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 AATGAGGGCAGACTGCCATTG 0.403 33 42 --- --- --- --- PASS SERPINF2 5345 broad.mit.edu 37 17 1650356 1650356 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr17:1650356C>A uc002ftk.1 + 6 488 c.411C>A c.(409-411)CAC>CAA p.H137Q SERPINF2_uc010vqr.1_Missense_Mutation_p.H73Q NM_000934 NP_000925 P08697 A2AP_HUMAN alpha-2-antiplasmin isoform a precursor 137 acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) Streptokinase(DB00086) AGGTGCTGCACGCAGGCTCAG 0.682 8 21 --- --- --- --- PASS PLD2 5338 broad.mit.edu 37 17 4720515 4720515 + Silent SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr17:4720515C>T uc002fzc.2 + 17 1877 c.1776C>T c.(1774-1776)CTC>CTT p.L592L PLD2_uc010vsj.1_Silent_p.L449L|PLD2_uc002fzd.2_Silent_p.L592L NM_002663 NP_002654 O14939 PLD2_HUMAN phospholipase D2 592 Catalytic. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Choline(DB00122) CCAATCAGCTCCCCTTCACAC 0.602 49 142 --- --- --- --- PASS AMAC1L3 643664 broad.mit.edu 37 17 7385380 7385380 + Missense_Mutation SNP G A A rs61740425 TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr17:7385380G>A uc010cmj.1 + 2 192 c.77G>A c.(76-78)CGC>CAC p.R26H ZBTB4_uc002ghc.3_5'Flank|ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank NM_001102614 NP_001096084 P0C7Q6 AMCL3_HUMAN acyl-malonyl condensing enzyme 1-like 3 26 integral to membrane 0 Prostate(122;0.173) CCCAGCCTCCGCTGGCACCAG 0.662 14 70 --- --- --- --- PASS DNAH2 146754 broad.mit.edu 37 17 7681435 7681435 + Missense_Mutation SNP T G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr17:7681435T>G uc002giu.1 + 33 5302 c.5288T>G c.(5287-5289)TTT>TGT p.F1763C NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 1763 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) AACACGCAATTTCAGTATAAT 0.542 4 43 --- --- --- --- PASS SSH2 85464 broad.mit.edu 37 17 27959196 27959196 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr17:27959196G>T uc002heo.1 - 15 2935 c.2935C>A c.(2935-2937)CAG>AAG p.Q979K SSH2_uc010wbh.1_Missense_Mutation_p.Q1006K NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 979 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 CCTTCCTGCTGTGTTCCAGTA 0.537 41 87 --- --- --- --- PASS KRT33B 3884 broad.mit.edu 37 17 39525757 39525757 + Silent SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr17:39525757C>T uc002hwl.2 - 1 291 c.246G>A c.(244-246)GCG>GCA p.A82A NM_002279 NP_002270 Q14525 KT33B_HUMAN type I hair keratin 3B 82 Coil 1A.|Rod. intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) TCTCCAGCTCCGCGTTGTCCC 0.607 20 108 --- --- --- --- PASS KCNH4 23415 broad.mit.edu 37 17 40321497 40321497 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr17:40321497C>T uc002hzb.2 - 9 1921 c.1588G>A c.(1588-1590)GAG>AAG p.E530K NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 530 Cytoplasmic (Potential). regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) CAGGCTACCTCGTTGGCGTCG 0.637 5 78 --- --- --- --- PASS G6PC 2538 broad.mit.edu 37 17 41063400 41063400 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr17:41063400G>T uc002icb.1 + 5 1110 c.1031G>T c.(1030-1032)TGC>TTC p.C344F G6PC_uc010whf.1_3'UTR NM_000151 NP_000142 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 344 Cytoplasmic (Potential). gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) ATCCCCTACTGCCTCGCCCAG 0.557 Glycogen_Storage_Disease_type_Ia 30 127 --- --- --- --- PASS HOXB8 3218 broad.mit.edu 37 17 46691646 46691646 + Nonsense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr17:46691646G>A uc002inw.2 - 1 656 c.421C>T c.(421-423)CAA>TAA p.Q141* NM_024016 NP_076921 P17481 HXB8_HUMAN homeobox B8 141 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 AGCTCACCTTGCGGGCGCATC 0.716 4 13 --- --- --- --- PASS RSAD1 55316 broad.mit.edu 37 17 48561869 48561869 + Missense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr17:48561869G>A uc002iqw.1 + 8 1230 c.1174G>A c.(1174-1176)GAG>AAG p.E392K RSAD1_uc010wmq.1_RNA NM_018346 NP_060816 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 392 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding 0 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GGAGGTGCAGGAGCTGCTGGA 0.642 11 144 --- --- --- --- PASS CD300LB 124599 broad.mit.edu 37 17 72522207 72522207 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr17:72522207G>T uc002jkx.2 - 2 174 c.161C>A c.(160-162)TCC>TAC p.S54Y CD300LB_uc010wqz.1_Missense_Mutation_p.S54Y NM_174892 NP_777552 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 17 integral to membrane|plasma membrane receptor activity ovary(1) 1 GCCTTGGATGGAGAAACAGCC 0.557 18 232 --- --- --- --- PASS SMAD4 4089 broad.mit.edu 37 18 48604810 48604810 + Silent SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr18:48604810G>T uc010xdp.1 + 12 2170 c.1632G>T c.(1630-1632)CCG>CCT p.P544P SMAD4_uc002lfb.3_Silent_p.P389P NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 544 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.?(2) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) ATACCATGCCGATTGCAGACC 0.458 Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 6 69 --- --- --- --- PASS THEG 51298 broad.mit.edu 37 19 362268 362268 + Missense_Mutation SNP C T T rs112813656 TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr19:362268C>T uc002lol.2 - 8 1111 c.1072G>A c.(1072-1074)GCC>ACC p.A358T THEG_uc002lom.2_Missense_Mutation_p.A334T NM_016585 NP_057669 Q9P2T0 THEG_HUMAN Theg homolog isoform 1 358 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding ovary(1) 1 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CTCATAGAGGCGAGGGGACGC 0.602 23 197 --- --- --- --- PASS SHC2 25759 broad.mit.edu 37 19 439005 439005 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr19:439005C>A uc002loq.3 - 3 565 c.565G>T c.(565-567)GCC>TCC p.A189S SHC2_uc002lop.3_5'Flank NM_012435 NP_036567 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) 189 PID. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol 0 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) CCAGGCACGGCCTCATGGAGC 0.572 3 10 --- --- --- --- PASS SIRT6 51548 broad.mit.edu 37 19 4174904 4174904 + Nonsense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr19:4174904C>A uc002lzo.2 - 8 838 c.778G>T c.(778-780)GAG>TAG p.E260* SIRT6_uc002lzn.2_Silent_p.T174T|SIRT6_uc002lzp.2_Silent_p.T185T|SIRT6_uc010xid.1_Nonsense_Mutation_p.E188*|SIRT6_uc002lzq.2_Nonsense_Mutation_p.E233*|SIRT6_uc002lzr.2_Nonsense_Mutation_p.E161* NM_016539 NP_057623 Q8N6T7 SIRT6_HUMAN sirtuin 6 260 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation nuclear telomeric heterochromatin|nucleoplasm NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18) GTCATGACCTCGTCAACGTAG 0.721 7 30 --- --- --- --- PASS TMEM146 257062 broad.mit.edu 37 19 5745966 5745966 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr19:5745966G>T uc002mda.2 + 9 761 c.700G>T c.(700-702)GGG>TGG p.G234W TMEM146_uc010duj.1_5'UTR NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 234 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 CCGGAGTTTCGGGCTGTCTTT 0.522 83 257 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9057326 9057326 + Silent SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr19:9057326C>T uc002mkp.2 - 3 30324 c.30120G>A c.(30118-30120)CCG>CCA p.P10040P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10042 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGATACTCTGCGGTAATGTGG 0.468 8 55 --- --- --- --- PASS DNM2 1785 broad.mit.edu 37 19 10939875 10939875 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr19:10939875C>A uc002mps.1 + 19 2386 c.2222C>A c.(2221-2223)ACC>AAC p.T741N DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Missense_Mutation_p.T741N|DNM2_uc002mpv.1_Missense_Mutation_p.T737N|DNM2_uc002mpu.1_Missense_Mutation_p.T737N|DNM2_uc010dxl.1_Missense_Mutation_p.T741N|DNM2_uc002mpw.2_Missense_Mutation_p.T470N|DNM2_uc002mpx.1_Missense_Mutation_p.T97N NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 741 GED. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) GACATCAGCACCAGCACTGTG 0.637 7 64 --- --- --- --- PASS UNC13A 23025 broad.mit.edu 37 19 17756884 17756884 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr19:17756884G>T uc002nhd.2 - 18 2345 c.2345C>A c.(2344-2346)ACA>AAA p.T782K NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 694 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 ACTGGATCCTGTCTTGTCCTT 0.557 6 40 --- --- --- --- PASS UNC13A 23025 broad.mit.edu 37 19 17768938 17768938 + Missense_Mutation SNP C T T rs139378806 by1000genomes TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr19:17768938C>T uc002nhd.2 - 10 964 c.964G>A c.(964-966)GGC>AGC p.G322S NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 234 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 TCCCGGGAGCCCAGGGGTGGT 0.577 8 27 --- --- --- --- PASS MAG 4099 broad.mit.edu 37 19 35804198 35804198 + Silent SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr19:35804198G>A uc002nyy.1 + 11 1871 c.1722G>A c.(1720-1722)GAG>GAA p.E574E MAG_uc002nyx.1_3'UTR|MAG_uc010eds.1_Silent_p.E549E|MAG_uc002nyz.1_Silent_p.E574E NM_002361 NP_002352 P20916 MAG_HUMAN myelin associated glycoprotein isoform a 574 Cytoplasmic (Potential). blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding breast(3)|lung(2)|central_nervous_system(1)|skin(1) 7 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) CTTAGAGCGAGAGGCGCCTGG 0.617 92 239 --- --- --- --- PASS PSG5 5673 broad.mit.edu 37 19 43689098 43689098 + Missense_Mutation SNP T A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr19:43689098T>A uc002ovu.2 - 2 397 c.266A>T c.(265-267)AAT>ATT p.N89I PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.N17I|PSG5_uc002ovx.2_Missense_Mutation_p.N89I|PSG5_uc002ovv.2_Missense_Mutation_p.N89I|PSG5_uc002ovw.2_Missense_Mutation_p.N89I NM_002781 NP_002772 Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 89 Ig-like V-type. female pregnancy extracellular region skin(3) 3 Prostate(69;0.00899) CCCATATATATTTATTTGACC 0.438 240 221 --- --- --- --- PASS ZNF230 7773 broad.mit.edu 37 19 44514961 44514961 + Missense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr19:44514961G>A uc002oyb.1 + 5 1021 c.770G>A c.(769-771)TGT>TAT p.C257Y NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN zinc finger protein 230 257 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) TGTGAGAAATGTGGGAGGGCC 0.413 102 110 --- --- --- --- PASS TRPM4 54795 broad.mit.edu 37 19 49671211 49671211 + Missense_Mutation SNP T C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr19:49671211T>C uc002pmw.2 + 4 377 c.305T>C c.(304-306)GTT>GCT p.V102A TRPM4_uc010emu.2_Missense_Mutation_p.V102A|TRPM4_uc010yak.1_Intron|TRPM4_uc002pmx.2_Intron|TRPM4_uc010emv.2_Intron|TRPM4_uc010yal.1_Intron NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 102 Cytoplasmic (Potential). dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CCAGCTGCAGTTTATAGTCTG 0.607 13 280 --- --- --- --- PASS ALDH16A1 126133 broad.mit.edu 37 19 49965239 49965239 + Silent SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr19:49965239C>T uc002pnt.2 + 7 974 c.858C>T c.(856-858)GAC>GAT p.D286D ALDH16A1_uc010yar.1_Intron|ALDH16A1_uc010yas.1_Silent_p.D121D|ALDH16A1_uc010yat.1_Silent_p.D123D NM_153329 NP_699160 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 286 oxidoreductase activity|protein binding skin(1) 1 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) ACACGGCGGACGTAGACTCGG 0.721 6 3 --- --- --- --- PASS LILRA6 79168 broad.mit.edu 37 19 54744817 54744817 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr19:54744817G>T uc002qeu.1 - 5 969 c.845C>A c.(844-846)ACC>AAC p.T282N LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Missense_Mutation_p.T282N|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.T282N|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.T282N|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.T282N|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Missense_Mutation_p.T282N|LILRA6_uc010yeq.1_Missense_Mutation_p.T282N|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.T143N NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, 282 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AGGGCCCAGGGTGAAGTTGGC 0.647 49 112 --- --- --- --- PASS TASP1 55617 broad.mit.edu 37 20 13415774 13415774 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr20:13415774C>A uc002woi.2 - 12 1130 c.1013G>T c.(1012-1014)GGC>GTC p.G338V TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Missense_Mutation_p.G315V NM_017714 NP_060184 Q9H6P5 TASP1_HUMAN taspase 1 precursor 338 asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation threonine-type endopeptidase activity 0 GCCAAGCACGCCATCTTCACT 0.403 4 36 --- --- --- --- PASS RALGAPB 57148 broad.mit.edu 37 20 37121581 37121581 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr20:37121581G>T uc002xiw.2 + 3 452 c.195G>T c.(193-195)TGG>TGT p.W65C RALGAPB_uc010zvz.1_Missense_Mutation_p.W65C|RALGAPB_uc002xix.2_Missense_Mutation_p.W65C|RALGAPB_uc002xiy.1_Missense_Mutation_p.W65C|RALGAPB_uc002xiz.2_5'UTR NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 65 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 AGGTAAAATGGACCATGGAAG 0.343 28 199 --- --- --- --- PASS SGK2 10110 broad.mit.edu 37 20 42203616 42203616 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr20:42203616C>T uc002xkv.2 + 9 1064 c.845C>T c.(844-846)GCA>GTA p.A282V SGK2_uc002xkt.2_RNA|SGK2_uc002xkr.2_Missense_Mutation_p.A222V|SGK2_uc010ggm.2_Missense_Mutation_p.A222V|SGK2_uc002xks.2_Missense_Mutation_p.A221V|SGK2_uc002xku.2_Missense_Mutation_p.A222V NM_016276 NP_057360 Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 isoform 282 Protein kinase. intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity lung(3)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 6 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TGCTTGGGGGCAGTCCTCTAC 0.512 40 52 --- --- --- --- PASS RNF114 55905 broad.mit.edu 37 20 48568613 48568613 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr20:48568613G>T uc002xux.2 + 6 658 c.622G>T c.(622-624)GAT>TAT p.D208Y RNF114_uc010zyo.1_Intron|RNF114_uc002xuy.2_RNA NM_018683 NP_061153 Q9Y508 RN114_HUMAN zinc finger protein 313 208 cell differentiation|multicellular organismal development|spermatogenesis intracellular zinc ion binding ovary(1)|central_nervous_system(1) 2 TTGCCCTTAGGATTATGATGT 0.448 12 67 --- --- --- --- PASS SYCP2 10388 broad.mit.edu 37 20 58444975 58444975 + Missense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr20:58444975G>A uc002yaz.2 - 35 3758 c.3619C>T c.(3619-3621)CTT>TTT p.L1207F NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1207 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) TCTTGTGTAAGTACCAGAGAA 0.313 4 50 --- --- --- --- PASS OPRL1 4987 broad.mit.edu 37 20 62729830 62729830 + Missense_Mutation SNP T C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr20:62729830T>C uc002yic.2 + 5 1193 c.791T>C c.(790-792)CTG>CCG p.L264P OPRL1_uc002yid.2_Missense_Mutation_p.L264P|OPRL1_uc002yif.3_Missense_Mutation_p.L259P NM_182647 NP_872588 P41146 OPRX_HUMAN opiate receptor-like 1 264 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) ATCACTCGGCTGGTGCTGGTG 0.662 46 60 --- --- --- --- PASS GABPA 2551 broad.mit.edu 37 21 27117565 27117565 + Missense_Mutation SNP C G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr21:27117565C>G uc002ylx.3 + 3 649 c.122C>G c.(121-123)GCC>GGC p.A41G GABPA_uc002yly.3_Missense_Mutation_p.A41G NM_002040 NP_002031 Q06546 GABPA_HUMAN GA binding protein transcription factor, alpha 41 positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding ovary(1)|central_nervous_system(1) 2 GTAAGCCAGGCCATAGACATC 0.383 18 79 --- --- --- --- PASS ADAMTS5 11096 broad.mit.edu 37 21 28338220 28338220 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr21:28338220G>T uc002ymg.2 - 1 1220 c.491C>A c.(490-492)ACC>AAC p.T164N NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 164 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 TGGCTTTAGGGTGTAGCGCGC 0.652 4 17 --- --- --- --- PASS CBS 875 broad.mit.edu 37 21 44474028 44474028 + Missense_Mutation SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr21:44474028G>T uc002zcu.2 - 17 1863 c.1618C>A c.(1618-1620)CTG>ATG p.L540M CBS_uc002zcs.1_Missense_Mutation_p.L435M|CBS_uc002zct.2_Missense_Mutation_p.L540M|CBS_uc002zcw.3_Missense_Mutation_p.L540M|CBS_uc002zcv.2_Missense_Mutation_p.L540M NM_000071 NP_000062 P35520 CBS_HUMAN cystathionine-beta-synthase 540 cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process cytosol|nucleolus cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding 0 L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118) ACGAAGTTCAGCAAGTCAATG 0.652 7 51 --- --- --- --- PASS IGLL3 91353 broad.mit.edu 37 22 25714193 25714193 + Missense_Mutation SNP C A A rs112211231 byFrequency TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr22:25714193C>A uc003abr.2 + 1 306 c.206C>A c.(205-207)ACA>AAA p.T69K NM_001013618 NP_001013640 immunoglobulin lambda-like polypeptide 3 0 TCACAGCCTACACACTGCAGC 0.642 19 77 --- --- --- --- PASS CRYBA4 1413 broad.mit.edu 37 22 27026323 27026323 + Missense_Mutation SNP C T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr22:27026323C>T uc003acz.3 + 6 498 c.463C>T c.(463-465)CCG>TCG p.P155S NM_001886 NP_001877 P53673 CRBA4_HUMAN crystallin, beta A4 155 Beta/gamma crystallin 'Greek key' 4. camera-type eye development|visual perception soluble fraction structural constituent of eye lens 0 CTCCCAGTTTCCGGGCTACCG 0.527 3 37 --- --- --- --- PASS C1QTNF6 114904 broad.mit.edu 37 22 37578404 37578404 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chr22:37578404C>A uc003aqw.1 - 2 1109 c.604G>T c.(604-606)GCG>TCG p.A202S C1QTNF6_uc003aqx.1_Missense_Mutation_p.A221S|C1QTNF6_uc003aqy.1_Missense_Mutation_p.A221S|C1QTNF6_uc003aqz.1_RNA NM_182486 NP_872292 Q9BXI9 C1QT6_HUMAN C1q and tumor necrosis factor related protein 6 202 C1q. collagen 0 CTGGGCTGCGCGTACAGGATG 0.582 14 37 --- --- --- --- PASS FANCB 2187 broad.mit.edu 37 X 14883178 14883178 + Missense_Mutation SNP A C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chrX:14883178A>C uc004cwg.1 - 3 723 c.455T>G c.(454-456)TTT>TGT p.F152C FANCB_uc004cwh.1_Missense_Mutation_p.F152C NM_001018113 NP_001018123 Q8NB91 FANCB_HUMAN Fanconi anemia complementation group B 152 DNA repair nucleoplasm lung(1) 1 Hepatocellular(33;0.183) AGAAGAGATAAAGAAGAATGC 0.393 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 20 60 --- --- --- --- PASS MAP7D2 256714 broad.mit.edu 37 X 20033400 20033400 + Missense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chrX:20033400G>A uc004czr.1 - 11 1586 c.1567C>T c.(1567-1569)CGT>TGT p.R523C MAP7D2_uc004czq.1_Missense_Mutation_p.R408C|MAP7D2_uc011mji.1_Missense_Mutation_p.R471C|MAP7D2_uc010nfo.1_Missense_Mutation_p.R564C|MAP7D2_uc011mjj.1_Missense_Mutation_p.R478C NM_152780 NP_689993 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 523 ovary(2)|breast(1) 3 CTCTCGAGACGCATCTGTTCA 0.463 4 107 --- --- --- --- PASS WNK3 65267 broad.mit.edu 37 X 54275554 54275554 + Missense_Mutation SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chrX:54275554G>A uc004dtd.1 - 17 3666 c.3227C>T c.(3226-3228)CCC>CTC p.P1076L WNK3_uc004dtc.1_Missense_Mutation_p.P1076L NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 1076 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 GGTCTGAGTGGGAATGACTGT 0.468 14 21 --- --- --- --- PASS ERCC6L 54821 broad.mit.edu 37 X 71427657 71427657 + Silent SNP G T T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chrX:71427657G>T uc004eaq.1 - 2 1057 c.960C>A c.(958-960)ATC>ATA p.I320I PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Silent_p.I197I NM_017669 NP_060139 Q2NKX8 ERC6L_HUMAN excision repair protein ERCC6-like 320 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding ovary(3) 3 Renal(35;0.156) AGGGTTTTATGATTGCCATTA 0.383 67 79 --- --- --- --- PASS SLC25A43 203427 broad.mit.edu 37 X 118544310 118544310 + Silent SNP G A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chrX:118544310G>A uc004erd.2 + 3 1019 c.675G>A c.(673-675)GTG>GTA p.V225V SLC25A43_uc004erc.1_RNA|SLC25A43_uc011mtt.1_Intron NM_145305 NP_660348 Q8WUT9 S2543_HUMAN mitochondrial solute carrier protein 225 Solcar 3.|Helical; Name=5; (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane binding skin(1) 1 TTGAGACCGTGAAGAGAAAGA 0.517 49 61 --- --- --- --- PASS GPC4 2239 broad.mit.edu 37 X 132437087 132437087 + Silent SNP A G G TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chrX:132437087A>G uc004exc.1 - 9 1691 c.1479T>C c.(1477-1479)AGT>AGC p.S493S GPC4_uc011mvg.1_Silent_p.S423S NM_001448 NP_001439 O75487 GPC4_HUMAN glypican 4 precursor 493 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 Acute lymphoblastic leukemia(192;0.000127) CTTCTCCACTACTTTCATCAC 0.403 88 75 --- --- --- --- PASS SLITRK2 84631 broad.mit.edu 37 X 144905219 144905219 + Missense_Mutation SNP C A A TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chrX:144905219C>A uc004fcd.2 + 5 2266 c.1276C>A c.(1276-1278)CGC>AGC p.R426S SLITRK2_uc010nsp.2_Missense_Mutation_p.R426S|SLITRK2_uc010nso.2_Missense_Mutation_p.R426S|SLITRK2_uc011mwq.1_Missense_Mutation_p.R426S|SLITRK2_uc011mwr.1_Missense_Mutation_p.R426S|SLITRK2_uc011mws.1_Missense_Mutation_p.R426S|SLITRK2_uc004fcg.2_Missense_Mutation_p.R426S|SLITRK2_uc011mwt.1_Missense_Mutation_p.R426S NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 426 Extracellular (Potential).|LRR 9. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) GACCAGTTTACGCAGACTTTA 0.398 91 88 --- --- --- --- PASS RENBP 5973 broad.mit.edu 37 X 153209166 153209166 + Silent SNP A C C TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx e01302f9-c5d6-4745-9c5d-d8bb8d278a77 6bc5d6d9-3b2c-48db-9ebc-6da53a07ff29 g.chrX:153209166A>C uc004fjo.1 - 5 464 c.294T>G c.(292-294)GGT>GGG p.G98G RENBP_uc011mzh.1_Silent_p.G98G NM_002910 NP_002901 P51606 RENBP_HUMAN renin binding protein 98 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity ovary(1)|pancreas(1) 2 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) GCAAGAACTCACCACCTGGAG 0.637 28 30 --- --- --- --- PASS