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 PLA2G2E 30814 broad.mit.edu 37 1 20249215 20249215 + Missense_Mutation SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr1:20249215C>G uc001bct.1 - 2 132 c.74G>C c.(73-75)GGG>GCG p.G25A NM_014589 NP_055404 Q9NZK7 PA2GE_HUMAN phospholipase A2, group IIE precursor 25 inflammatory response|lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity 0 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GATCATCACCCCAAACTGAAC 0.522 18 125 --- --- --- --- PASS AGL 178 broad.mit.edu 37 1 100346221 100346221 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr1:100346221G>C uc001dsi.1 + 14 2169 c.1769G>C c.(1768-1770)GGC>GCC p.G590A AGL_uc001dsj.1_Missense_Mutation_p.G590A|AGL_uc001dsk.1_Missense_Mutation_p.G590A|AGL_uc001dsl.1_Missense_Mutation_p.G590A|AGL_uc001dsm.1_Missense_Mutation_p.G574A|AGL_uc001dsn.1_Missense_Mutation_p.G573A NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 590 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) CATGAAGAGGGCAGATTAGTT 0.398 46 158 --- --- --- --- PASS PTPN14 5784 broad.mit.edu 37 1 214557127 214557127 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr1:214557127G>C uc001hkk.1 - 13 2342 c.2071C>G c.(2071-2073)CAG>GAG p.Q691E PTPN14_uc010pty.1_Missense_Mutation_p.Q592E NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 691 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TGGTGATACTGAGGGAGCTGG 0.632 18 73 --- --- --- --- PASS RAB4A 5867 broad.mit.edu 37 1 229434748 229434748 + Missense_Mutation SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr1:229434748C>T uc001hth.2 + 6 678 c.470C>T c.(469-471)GCG>GTG p.A157V RAB4A_uc001hti.2_RNA|RAB4A_uc001htj.2_RNA NM_004578 NP_004569 P20338 RAB4A_HUMAN RAB4A, member RAS oncogene family 152 GTP. GDP binding|GTP binding|GTPase activity ovary(1) 1 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.178) GAAACAAGTGCGCTCACAGGG 0.353 16 111 --- --- --- --- PASS PLD5 200150 broad.mit.edu 37 1 242451818 242451818 + Missense_Mutation SNP T C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr1:242451818T>C uc001hzn.1 - 3 468 c.341A>G c.(340-342)GAA>GGA p.E114G PLD5_uc001hzl.3_Missense_Mutation_p.E52G|PLD5_uc001hzm.3_Intron|PLD5_uc001hzo.1_Missense_Mutation_p.E22G Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 114 integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) AGGAATATTTTCCACCAGGGC 0.343 4 38 --- --- --- --- PASS HS1BP3 64342 broad.mit.edu 37 2 20840770 20840770 + Silent SNP G A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr2:20840770G>A uc002rdw.1 - 3 410 c.369C>T c.(367-369)GCC>GCT p.A123A HS1BP3_uc002rdx.2_Silent_p.A123A|HS1BP3_uc002rdy.2_Silent_p.A123A NM_022460 NP_071905 Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 123 PX. cell communication phosphatidylinositol binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGCCAACTCGGCATCCTTGG 0.617 47 266 --- --- --- --- PASS ASXL2 55252 broad.mit.edu 37 2 25965491 25965491 + Missense_Mutation SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr2:25965491C>G uc002rgs.2 - 12 3936 c.3715G>C c.(3715-3717)GAG>CAG p.E1239Q ASXL2_uc002rgt.1_Missense_Mutation_p.E722Q NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 1239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGGTTTGCTCATTCAATGGT 0.438 9 78 --- --- --- --- PASS SLC30A6 55676 broad.mit.edu 37 2 32396399 32396399 + Missense_Mutation SNP G T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr2:32396399G>T uc002roe.1 + 2 84 c.47G>T c.(46-48)GGC>GTC p.G16V SLC30A6_uc002rof.1_Missense_Mutation_p.G16V|SLC30A6_uc010ymw.1_Intron|SLC30A6_uc010ezr.1_Missense_Mutation_p.G16V|SLC30A6_uc002rog.1_5'UTR|SLC30A6_uc010ezs.1_Intron|SLC30A6_uc002roh.1_5'UTR NM_017964 NP_060434 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), 16 Cytoplasmic (Potential). Golgi membrane|integral to membrane zinc ion transmembrane transporter activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TCCTTTTTTGGCAAGTTGTTA 0.338 10 102 --- --- --- --- PASS LTBP1 4052 broad.mit.edu 37 2 33518261 33518261 + Silent SNP A T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr2:33518261A>T uc002ros.2 + 20 3150 c.3150A>T c.(3148-3150)GCA>GCT p.A1050A LTBP1_uc002rot.2_Silent_p.A724A|LTBP1_uc002rou.2_Silent_p.A723A|LTBP1_uc002rov.2_Silent_p.A670A|LTBP1_uc010ymz.1_Silent_p.A723A|LTBP1_uc010yna.1_Silent_p.A670A|LTBP1_uc010ynb.1_5'UTR NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1049 EGF-like 8; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) ACGTCTGCGCAAATGGTGATT 0.428 13 65 --- --- --- --- PASS DYNC2LI1 51626 broad.mit.edu 37 2 44031784 44031784 + Missense_Mutation SNP C A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr2:44031784C>A uc002rtk.2 + 11 902 c.806C>A c.(805-807)TCT>TAT p.S269Y DYNC2LI1_uc002rtj.2_Missense_Mutation_p.S269Y|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.S270Y|DYNC2LI1_uc010ynz.1_Missense_Mutation_p.S143Y NM_016008 NP_057092 Q8TCX1 DC2L1_HUMAN dynein 2 light intermediate chain isoform 1 269 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ATTTTAGGATCTCCTCCTGTT 0.368 20 101 --- --- --- --- PASS CCDC88A 55704 broad.mit.edu 37 2 55571645 55571645 + Missense_Mutation SNP T A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr2:55571645T>A uc002ryv.2 - 11 1889 c.1047A>T c.(1045-1047)TTA>TTT p.L349F CCDC88A_uc010yoz.1_Missense_Mutation_p.L349F|CCDC88A_uc010ypa.1_Missense_Mutation_p.L349F|CCDC88A_uc010ypb.1_Missense_Mutation_p.L251F NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 349 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 TGTCTTCTTTTAATTCCTATA 0.274 8 33 --- --- --- --- PASS ETAA1 54465 broad.mit.edu 37 2 67637061 67637061 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr2:67637061G>C uc002sdz.1 + 6 2811 c.2672G>C c.(2671-2673)AGA>ACA p.R891T NM_019002 NP_061875 Q9NY74 ETAA1_HUMAN ETAA16 protein 891 cytoplasm|nucleus ovary(3)|large_intestine(1) 4 GAGAAAAATAGAAAGTGTTCT 0.338 26 162 --- --- --- --- PASS ETAA1 54465 broad.mit.edu 37 2 67637099 67637099 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr2:67637099G>C uc002sdz.1 + 6 2849 c.2710G>C c.(2710-2712)GAA>CAA p.E904Q NM_019002 NP_061875 Q9NY74 ETAA1_HUMAN ETAA16 protein 904 cytoplasm|nucleus ovary(3)|large_intestine(1) 4 AAAAAGACAAGAAGCACTGGT 0.353 31 155 --- --- --- --- PASS INO80B 83444 broad.mit.edu 37 2 74684855 74684855 + Missense_Mutation SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr2:74684855C>G uc002slg.2 + 5 980 c.935C>G c.(934-936)CCC>CGC p.P312R INO80B_uc002slf.1_3'UTR|INO80B_uc010yrr.1_Missense_Mutation_p.P284R|WBP1_uc002slh.1_Intron|INO80B_uc002sli.1_RNA|INO80B_uc010yrs.1_Missense_Mutation_p.P330R|WBP1_uc002slj.1_5'Flank|WBP1_uc002slk.1_5'Flank|WBP1_uc002sll.1_5'Flank NM_031288 NP_112578 Q9C086 IN80B_HUMAN high mobility group AT-hook 1-like 4 312 HIT-type. DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|nucleolus metal ion binding|protein binding pancreas(1) 1 TGCTCTGTCCCCGGCTGTCCC 0.701 4 38 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141816564 141816564 + Missense_Mutation SNP A T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr2:141816564A>T uc002tvj.1 - 9 2268 c.1296T>A c.(1294-1296)GAT>GAA p.D432E LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 432 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TATTGTAGTTATCAGAATTGG 0.289 TSP Lung(27;0.18) 20 86 --- --- --- --- PASS C2orf67 151050 broad.mit.edu 37 2 210889937 210889937 + Missense_Mutation SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr2:210889937C>G uc002vds.2 - 13 2663 c.2455G>C c.(2455-2457)GAA>CAA p.E819Q C2orf67_uc002vdt.2_Missense_Mutation_p.E777Q NM_152519 NP_689732 A0AUZ9 CB067_HUMAN hypothetical protein LOC151050 819 ovary(3) 3 Renal(323;0.202) Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696) GAAAGATCTTCTATCTGGAAT 0.289 13 67 --- --- --- --- PASS GRM7 2917 broad.mit.edu 37 3 7721866 7721866 + Missense_Mutation SNP G A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr3:7721866G>A uc003bqm.2 + 9 2856 c.2582G>A c.(2581-2583)CGA>CAA p.R861Q GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.R861Q|GRM7_uc003bql.2_Missense_Mutation_p.R861Q|GRM7_uc003bqn.1_Missense_Mutation_p.R444Q NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 861 Cytoplasmic (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) AAACGGAAGCGAAGCTTCAAG 0.517 5 98 --- --- --- --- PASS HRH1 3269 broad.mit.edu 37 3 11301122 11301122 + Silent SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr3:11301122C>T uc010hdr.2 + 2 741 c.399C>T c.(397-399)CTC>CTT p.L133L HRH1_uc010hds.2_Silent_p.L133L|HRH1_uc010hdt.2_Silent_p.L133L|HRH1_uc003bwb.3_Silent_p.L133L NM_001098213 NP_001091683 P35367 HRH1_HUMAN histamine receptor H1 133 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity large_intestine(1)|ovary(1) 2 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) AGCAGCCCCTCAGGTACCTTA 0.532 32 157 --- --- --- --- PASS SEMA3G 56920 broad.mit.edu 37 3 52476317 52476317 + Nonsense_Mutation SNP C A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr3:52476317C>A uc003dea.1 - 4 343 c.343G>T c.(343-345)GAG>TAG p.E115* NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN semaphorin sem2 precursor 115 Sema. multicellular organismal development extracellular region|membrane receptor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) TTGGCGCACTCTGTCTGCGGG 0.662 23 74 --- --- --- --- PASS CLRN1 7401 broad.mit.edu 37 3 150659416 150659416 + Missense_Mutation SNP T C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr3:150659416T>C uc003eyk.1 - 2 677 c.386A>G c.(385-387)GAA>GGA p.E129G CLRN1OS_uc011bny.1_Intron|CLRN1_uc003eyj.2_Missense_Mutation_p.E53G|CLRN1_uc010hvj.1_RNA NM_174878 NP_777367 P58418 CLRN1_HUMAN clarin 1 isoform a 129 equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) ATGCAGAGTTTCAAAAGGTTT 0.408 12 70 --- --- --- --- PASS C3orf70 285382 broad.mit.edu 37 3 184801052 184801052 + Missense_Mutation SNP C A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr3:184801052C>A uc003fpd.2 - 2 687 c.496G>T c.(496-498)GAT>TAT p.D166Y NM_001025266 NP_001020437 A6NLC5 CC070_HUMAN hypothetical protein LOC285382 166 0 ATTAAGGCATCGTGTGCAGAG 0.458 12 142 --- --- --- --- PASS FETUB 26998 broad.mit.edu 37 3 186358473 186358473 + Missense_Mutation SNP G T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr3:186358473G>T uc010hyq.2 + 2 485 c.224G>T c.(223-225)CGG>CTG p.R75L FETUB_uc011brz.1_Intron|FETUB_uc003fqn.2_Missense_Mutation_p.R75L|FETUB_uc003fqo.2_5'UTR|FETUB_uc010hyr.2_Missense_Mutation_p.R75L|FETUB_uc010hys.2_5'UTR|FETUB_uc003fqp.3_Missense_Mutation_p.R75L NM_014375 NP_055190 Q9UGM5 FETUB_HUMAN fetuin B precursor 75 Cystatin fetuin-B-type 1. extracellular space cysteine-type endopeptidase inhibitor activity ovary(1)|lung(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) GAATACAGACGGGCAAGTAGG 0.567 41 203 --- --- --- --- PASS OSTalpha 200931 broad.mit.edu 37 3 195954570 195954570 + Silent SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr3:195954570C>T uc003fwd.2 + 4 525 c.324C>T c.(322-324)ATC>ATT p.I108I OSTalpha_uc010iac.1_5'UTR|OSTalpha_uc003fwe.2_5'Flank NM_152672 NP_689885 Q86UW1 OSTA_HUMAN organic solute transporter alpha 108 Helical; (Potential). integral to membrane|plasma membrane transporter activity ovary(1) 1 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06) GBM - Glioblastoma multiforme(46;0.00202) GTCTCTGGATCCCTCGTTCCC 0.642 15 107 --- --- --- --- PASS DSPP 1834 broad.mit.edu 37 4 88534399 88534399 + Missense_Mutation SNP G A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr4:88534399G>A uc003hqu.2 + 4 1181 c.1061G>A c.(1060-1062)CGC>CAC p.R354H NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein preproprotein 354 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent central_nervous_system(1) 1 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) GAAAGCAAACGCGTAGAAAAT 0.418 21 37 --- --- --- --- PASS LRRC14B 389257 broad.mit.edu 37 5 195433 195433 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr5:195433G>C uc003jal.1 + 2 1538 c.1510G>C c.(1510-1512)GAA>CAA p.E504Q NM_001080478 NP_001073947 A6NHZ5 LR14B_HUMAN leucine rich repeat containing 14B 504 skin(1) 1 AACTGCTCTAGAAAACTTCTC 0.478 5 100 --- --- --- --- PASS C5orf22 55322 broad.mit.edu 37 5 31538616 31538616 + Silent SNP G A A rs145324653 byFrequency TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr5:31538616G>A uc003jhj.3 + 4 754 c.627G>A c.(625-627)CAG>CAA p.Q209Q C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_5'UTR NM_018356 NP_060826 Q49AR2 CE022_HUMAN hypothetical protein LOC55322 209 ovary(2) 2 CAGCAACACAGAGAAGTGACC 0.453 12 76 --- --- --- --- PASS SLC45A2 51151 broad.mit.edu 37 5 33963987 33963987 + Missense_Mutation SNP G A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr5:33963987G>A uc003jid.2 - 3 789 c.697C>T c.(697-699)CAT>TAT p.H233Y SLC45A2_uc003jie.2_Missense_Mutation_p.H233Y|SLC45A2_uc003jif.3_Intron|SLC45A2_uc011coe.1_Intron NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 233 Helical; Name=6; (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 CTGCACAGATGAACAGTAAAA 0.488 24 142 --- --- --- --- PASS UGT3A1 133688 broad.mit.edu 37 5 35957443 35957443 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr5:35957443G>C uc003jjv.1 - 5 1079 c.922C>G c.(922-924)CAG>GAG p.Q308E UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.Q308E|UGT3A1_uc011cor.1_Missense_Mutation_p.Q274E NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 308 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCCTGGGACTGATGGGTGTTC 0.488 8 96 --- --- --- --- PASS DAB2 1601 broad.mit.edu 37 5 39383250 39383250 + Nonsense_Mutation SNP G A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr5:39383250G>A uc003jlx.2 - 10 1342 c.811C>T c.(811-813)CAG>TAG p.Q271* DAB2_uc003jlw.2_Nonsense_Mutation_p.Q250* NM_001343 NP_001334 P98082 DAB2_HUMAN disabled homolog 2 271 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding kidney(2)|skin(1) 3 all_lung(31;0.000197) Epithelial(62;0.137) AAGGATGCCTGAGGCGTTGGT 0.453 44 184 --- --- --- --- PASS SEPP1 6414 broad.mit.edu 37 5 42807125 42807125 + RNA SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr5:42807125G>C uc011cps.1 - 4 c.477C>G SEPP1_uc011cpt.1_RNA|SEPP1_uc011cpu.1_RNA|SEPP1_uc011cpv.1_RNA|SEPP1_uc003jna.2_RNA P49908 SEPP1_HUMAN Homo sapiens cDNA FLJ37321 fis, clone BRAMY2018122. response to oxidative stress extracellular region selenium binding 0 TATTTTAATCGAGAAGAGATT 0.308 11 118 --- --- --- --- PASS PAM 5066 broad.mit.edu 37 5 102309957 102309957 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr5:102309957G>C uc003knw.2 + 14 1673 c.1300G>C c.(1300-1302)GAT>CAT p.D434H PAM_uc003kns.2_Intron|PAM_uc003knt.2_Missense_Mutation_p.D434H|PAM_uc003knu.2_Missense_Mutation_p.D434H|PAM_uc003knv.2_Missense_Mutation_p.D434H|PAM_uc011cuz.1_Missense_Mutation_p.D337H|PAM_uc003knx.1_Intron|PAM_uc003kny.1_RNA NM_000919 NP_000910 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 434 Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).|Intragranular (Potential). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding 0 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) CCAAAAAAAGGATCTTGGTCG 0.418 20 87 --- --- --- --- PASS ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139905808 139905808 + Missense_Mutation SNP G A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr5:139905808G>A uc003lfs.1 + 26 4844 c.4720G>A c.(4720-4722)GAT>AAT p.D1574N ANKHD1_uc003lfr.2_Missense_Mutation_p.D1574N|ANKHD1_uc003lfu.1_Missense_Mutation_p.D1054N|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.D313N|ANKHD1_uc003lfw.2_Missense_Mutation_p.D212N|ANKHD1_uc010jfl.2_Missense_Mutation_p.D9N|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1574 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAAAGGCAGATAAAAATAA 0.393 29 158 --- --- --- --- PASS PCDHB8 56128 broad.mit.edu 37 5 140558690 140558690 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr5:140558690G>C uc011dai.1 + 1 1261 c.1075G>C c.(1075-1077)GAG>CAG p.E359Q PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 359 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCAATACCTGAGAATGCGCC 0.448 21 555 --- --- --- --- PASS AFAP1L1 134265 broad.mit.edu 37 5 148680751 148680751 + Missense_Mutation SNP A C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr5:148680751A>C uc003lqh.2 + 4 416 c.285A>C c.(283-285)AAA>AAC p.K95N AFAP1L1_uc003lqg.3_Missense_Mutation_p.K95N|AFAP1L1_uc010jgy.2_Missense_Mutation_p.K95N NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 95 protein binding breast(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCCAGCAAAGGAGCCAGCC 0.587 20 86 --- --- --- --- PASS IL12B 3593 broad.mit.edu 37 5 158750298 158750298 + Missense_Mutation SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr5:158750298C>G uc003lxr.1 - 3 170 c.128G>C c.(127-129)GGA>GCA p.G43A NM_002187 NP_002178 P29460 IL12B_HUMAN interleukin 12B precursor 43 Ig-like C2-type. cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CACCATTTCTCCAGGGGCATC 0.413 8 51 --- --- --- --- PASS HIVEP1 3096 broad.mit.edu 37 6 12161695 12161695 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr6:12161695G>C uc003nac.2 + 8 6690 c.6511G>C c.(6511-6513)GAG>CAG p.E2171Q HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 2171 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) ATTCAGTTATGAGCGATCTGG 0.383 25 140 --- --- --- --- PASS KIF13A 63971 broad.mit.edu 37 6 17781126 17781126 + Silent SNP T A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr6:17781126T>A uc003ncg.3 - 31 3786 c.3681A>T c.(3679-3681)ACA>ACT p.T1227T KIF13A_uc003ncf.2_Silent_p.T1214T|KIF13A_uc003nch.3_Silent_p.T1227T|KIF13A_uc003nci.3_Silent_p.T1214T|KIF13A_uc003nce.1_5'Flank NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 1227 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CCCAAGAGGCTGTGGCTGAAA 0.408 12 78 --- --- --- --- PASS KDM1B 221656 broad.mit.edu 37 6 18207729 18207729 + Missense_Mutation SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr6:18207729C>T uc003nco.1 + 9 1226 c.1151C>T c.(1150-1152)GCA>GTA p.A384V KDM1B_uc003ncn.1_Missense_Mutation_p.A355V NM_153042 NP_694587 Q8NB78 KDM1B_HUMAN amine oxidase (flavin containing) domain 1 587 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding skin(1) 1 GAAAAACTGGCAGAAGGGCTT 0.517 10 81 --- --- --- --- PASS DCDC2 51473 broad.mit.edu 37 6 24205305 24205305 + Silent SNP T A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr6:24205305T>A uc003ndx.2 - 8 1250 c.948A>T c.(946-948)GCA>GCT p.A316A DCDC2_uc003ndy.2_Silent_p.A316A|DCDC2_uc003ndw.2_Silent_p.A67A NM_016356 NP_057440 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 316 cellular defense response|intracellular signal transduction|neuron migration ovary(1) 1 Ovarian(999;0.101) CAGACCTCTCTGCTCCAGCTT 0.423 39 217 --- --- --- --- PASS MSH5 4439 broad.mit.edu 37 6 31729633 31729633 + Missense_Mutation SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr6:31729633C>G uc003nwv.1 + 23 2299 c.2220C>G c.(2218-2220)TTC>TTG p.F740L MSH5_uc003nwt.1_Missense_Mutation_p.F757L|MSH5_uc003nwu.1_Missense_Mutation_p.F741L|MSH5_uc003nww.1_Missense_Mutation_p.F740L|MSH5_uc003nwx.1_Missense_Mutation_p.F758L|MSH5_uc011dof.1_Missense_Mutation_p.F439L|MSH5_uc003nwy.1_Missense_Mutation_p.F414L|MSH5_uc003nwz.3_RNA|C6orf26_uc003nxa.3_5'Flank NM_172166 NP_751898 O43196 MSH5_HUMAN mutS homolog 5 isoform c 740 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding ovary(2)|breast(1) 3 ATCTTGTCTTCTTCTATCAGG 0.522 Direct_reversal_of_damage|MMR 51 246 --- --- --- --- PASS ZNF318 24149 broad.mit.edu 37 6 43316086 43316086 + Silent SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr6:43316086C>T uc003oux.2 - 6 3126 c.3048G>A c.(3046-3048)TCG>TCA p.S1016S ZNF318_uc003ouw.2_RNA NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1016 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) AGTTTGAGAACGATGACACTT 0.378 48 241 --- --- --- --- PASS L3MBTL3 84456 broad.mit.edu 37 6 130415488 130415488 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr6:130415488G>C uc003qbt.2 + 18 1882 c.1712G>C c.(1711-1713)AGA>ACA p.R571T L3MBTL3_uc003qbu.2_Missense_Mutation_p.R546T NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 571 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) CATTTCAAGAGAGCGAGACAT 0.418 15 61 --- --- --- --- PASS JAZF1 221895 broad.mit.edu 37 7 27872493 27872493 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr7:27872493G>C uc003szn.2 - 5 899 c.658C>G c.(658-660)CAG>GAG p.Q220E JAZF1_uc003szm.2_Missense_Mutation_p.Q156E NM_175061 NP_778231 Q86VZ6 JAZF1_HUMAN JAZF zinc finger 1 220 C2H2-type 3; degenerate. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcriptional repressor complex nucleic acid binding|transcription corepressor activity|zinc ion binding JAZF1/SUZ12(131) soft_tissue(98)|endometrium(33) 131 CGCAGGCCCTGAGCTGTCTTG 0.483 T SUZ12 endometrial stromal tumours 18 125 --- --- --- --- PASS AKAP9 10142 broad.mit.edu 37 7 91718793 91718793 + Missense_Mutation SNP G T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr7:91718793G>T uc003ulg.2 + 38 9533 c.9308G>T c.(9307-9309)GGT>GTT p.G3103V AKAP9_uc003ulf.2_Missense_Mutation_p.G3095V|AKAP9_uc003uli.2_Missense_Mutation_p.G2726V|AKAP9_uc003ulj.2_Missense_Mutation_p.G873V|AKAP9_uc003ulk.2_Missense_Mutation_p.G378V|AKAP9_uc003ull.2_5'Flank NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 3107 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CAAATGAATGGTAGGAAAATT 0.388 T BRAF papillary thyroid 22 644 --- --- --- --- PASS SAMD9 54809 broad.mit.edu 37 7 92731423 92731423 + Missense_Mutation SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr7:92731423C>G uc003umf.2 - 3 4244 c.3988G>C c.(3988-3990)GAG>CAG p.E1330Q SAMD9_uc003umg.2_Missense_Mutation_p.E1330Q NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1330 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CTGCATCTCTCTACTTGAAGT 0.363 43 860 --- --- --- --- PASS MLL5 55904 broad.mit.edu 37 7 104747986 104747986 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr7:104747986G>C uc003vcm.2 + 22 3616 c.3082G>C c.(3082-3084)GAT>CAT p.D1028H MLL5_uc010ljc.2_Missense_Mutation_p.D1028H|MLL5_uc010lje.1_RNA|MLL5_uc010ljf.1_RNA|MLL5_uc010ljg.2_5'UTR|MLL5_uc010ljh.1_5'Flank NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 1028 cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 GCTAGGACTCGATGCAGTTGA 0.522 18 93 --- --- --- --- PASS SLC13A1 6561 broad.mit.edu 37 7 122755608 122755608 + Silent SNP C A A rs150844958 TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr7:122755608C>A uc003vkm.2 - 15 1777 c.1752G>T c.(1750-1752)TCG>TCT p.S584S SLC13A1_uc010lks.2_Silent_p.S460S NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate 584 integral to membrane|plasma membrane sodium:sulfate symporter activity ovary(2) 2 Succinic acid(DB00139) CAGGAGCCCACGAAGGGTAAG 0.403 19 96 --- --- --- --- PASS GPR37 2861 broad.mit.edu 37 7 124387341 124387341 + Silent SNP G A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr7:124387341G>A uc003vli.2 - 2 1731 c.1080C>T c.(1078-1080)TTC>TTT p.F360F NM_005302 NP_005293 O15354 GPR37_HUMAN G protein-coupled receptor 37 precursor 360 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity ovary(1)|lung(1)|central_nervous_system(1) 3 TGGCAGCACGGAAGCGGTCTA 0.488 12 68 --- --- --- --- PASS GRM8 2918 broad.mit.edu 37 7 126882877 126882877 + Missense_Mutation SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr7:126882877C>G uc003vlr.2 - 1 693 c.382G>C c.(382-384)GCT>CCT p.A128P GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.A128P|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 128 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) ACATCCGAAGCATCTTTCTCT 0.502 HNSCC(24;0.065) 19 81 --- --- --- --- PASS SLC4A2 6522 broad.mit.edu 37 7 150767109 150767109 + Missense_Mutation SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr7:150767109C>G uc003wit.3 + 9 1479 c.1223C>G c.(1222-1224)TCT>TGT p.S408C SLC4A2_uc011kve.1_Missense_Mutation_p.S399C|SLC4A2_uc003wiu.3_Missense_Mutation_p.S394C|SLC4A2_uc003wiv.3_5'Flank NM_003040 NP_003031 P04920 B3A2_HUMAN solute carrier family 4, anion exchanger, member 408 Cytoplasmic (Potential). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ATGGTCATCTCTGACCAGATC 0.622 22 102 --- --- --- --- PASS MYOM2 9172 broad.mit.edu 37 8 2092716 2092716 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr8:2092716G>C uc003wpx.3 + 37 4347 c.4209G>C c.(4207-4209)ATG>ATC p.M1403I MYOM2_uc011kwi.1_Missense_Mutation_p.M828I NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 1403 Ig-like C2-type 5. muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) ACGTCAGCATGACCATCAAAG 0.537 25 112 --- --- --- --- PASS BLK 640 broad.mit.edu 37 8 11412926 11412926 + Silent SNP G A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr8:11412926G>A uc003wty.2 + 8 1286 c.705G>A c.(703-705)GAG>GAA p.E235E BLK_uc003wtz.2_Silent_p.E164E NM_001715 NP_001706 P51451 BLK_HUMAN B lymphoid tyrosine kinase 235 intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity large_intestine(1)|stomach(1)|ovary(1) 3 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) ATGAATGGGAGATCCCCCGGC 0.612 27 141 --- --- --- --- PASS PIWIL2 55124 broad.mit.edu 37 8 22172591 22172591 + Missense_Mutation SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr8:22172591C>T uc003xbn.2 + 18 2289 c.2141C>T c.(2140-2142)GCC>GTC p.A714V PIWIL2_uc011kzf.1_Missense_Mutation_p.A714V|PIWIL2_uc010ltv.2_Missense_Mutation_p.A714V NM_018068 NP_060538 Q8TC59 PIWL2_HUMAN piwi-like 2 714 Piwi. DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding skin(1) 1 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) CGGAGTGTGGCCCAGAAGATT 0.483 31 110 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52366145 52366145 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr8:52366145G>C uc003xqu.3 - 10 1284 c.1183C>G c.(1183-1185)CGA>GGA p.R395G NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 395 Ig-like C2-type 2. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CAGGTAAATCGACCATGATCC 0.483 19 100 --- --- --- --- PASS DPY19L4 286148 broad.mit.edu 37 8 95780703 95780703 + Missense_Mutation SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr8:95780703C>T uc003ygx.2 + 12 1380 c.1256C>T c.(1255-1257)TCT>TTT p.S419F NM_181787 NP_861452 Q7Z388 D19L4_HUMAN dpy-19-like 4 419 integral to membrane ovary(2) 2 Breast(36;3.85e-06) TTGACACAGTCTTCTTTATTA 0.323 11 72 --- --- --- --- PASS GPAA1 8733 broad.mit.edu 37 8 145138051 145138051 + Missense_Mutation SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr8:145138051C>G uc003zax.2 + 2 209 c.99C>G c.(97-99)ATC>ATG p.I33M GPAA1_uc003zav.1_Translation_Start_Site|GPAA1_uc003zaw.1_Intron NM_003801 NP_003792 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 33 Helical; (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGGCGGGCATCGCCTGGTTCT 0.672 11 57 --- --- --- --- PASS APBA1 320 broad.mit.edu 37 9 72131759 72131759 + Missense_Mutation SNP C A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr9:72131759C>A uc004ahh.2 - 2 644 c.368G>T c.(367-369)CGG>CTG p.R123L NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 123 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 GGCCTCGGGCCGGTACTGCAC 0.731 4 37 --- --- --- --- PASS PHF2 5253 broad.mit.edu 37 9 96407915 96407915 + Missense_Mutation SNP G A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr9:96407915G>A uc004aub.2 + 4 451 c.304G>A c.(304-306)GAA>AAA p.E102K PHF2_uc011lug.1_5'UTR NM_005392 NP_005383 O75151 PHF2_HUMAN PHD finger protein 2 102 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) CTGCAGTGCTGAAGACGTGGT 0.647 18 132 --- --- --- --- PASS TLR4 7099 broad.mit.edu 37 9 120470908 120470908 + Missense_Mutation SNP T G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr9:120470908T>G uc004bjz.2 + 2 452 c.161T>G c.(160-162)TTC>TGC p.F54C TLR4_uc004bka.2_Missense_Mutation_p.F14C|TLR4_uc004bkb.2_Intron NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 54 Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 AACCTCCCCTTCTCAACCAAG 0.438 32 128 --- --- --- --- PASS MAPKAP1 79109 broad.mit.edu 37 9 128432143 128432143 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr9:128432143G>C uc004bpv.2 - 3 636 c.303C>G c.(301-303)ATC>ATG p.I101M MAPKAP1_uc004bpw.2_Translation_Start_Site|MAPKAP1_uc004bpx.2_Intron|MAPKAP1_uc004bpy.2_Missense_Mutation_p.I101M|MAPKAP1_uc004bpz.2_Missense_Mutation_p.I101M|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc004bqa.2_Missense_Mutation_p.I101M NM_001006617 NP_001006618 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated 101 Interaction with MAP3K2. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding ovary(2)|lung(2) 4 TTTTGCATTTGATCTGGTTTT 0.259 6 21 --- --- --- --- PASS TPRN 286262 broad.mit.edu 37 9 140086755 140086755 + Missense_Mutation SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr9:140086755C>G uc004clt.2 - 3 1846 c.1846G>C c.(1846-1848)GAG>CAG p.E616Q TPRN_uc004clu.2_Missense_Mutation_p.E616Q NM_173691 NP_775962 Q4KMQ1 TPRN_HUMAN hypothetical protein LOC286262 isoform 2 677 sensory perception of sound stereocilium 0 GGGGCCTGCTCCAGCGCCTGC 0.677 6 40 --- --- --- --- PASS PARD3 56288 broad.mit.edu 37 10 34759074 34759074 + Nonsense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr10:34759074G>C uc010qej.1 - 4 521 c.521C>G c.(520-522)TCA>TGA p.S174* PARD3_uc010qek.1_Nonsense_Mutation_p.S174*|PARD3_uc010qel.1_Nonsense_Mutation_p.S174*|PARD3_uc010qem.1_Nonsense_Mutation_p.S174*|PARD3_uc010qen.1_Nonsense_Mutation_p.S174*|PARD3_uc010qeo.1_Nonsense_Mutation_p.S174*|PARD3_uc010qep.1_Nonsense_Mutation_p.S174*|PARD3_uc010qeq.1_Nonsense_Mutation_p.S174*|PARD3_uc001ixp.1_Nonsense_Mutation_p.S39*|PARD3_uc001ixq.1_Nonsense_Mutation_p.S174*|PARD3_uc001ixr.1_Nonsense_Mutation_p.S174*|PARD3_uc001ixt.1_Nonsense_Mutation_p.S39*|PARD3_uc001ixu.1_Nonsense_Mutation_p.S174* NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 174 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) AGCTGTTGTTGACCAGCGTGT 0.507 30 128 --- --- --- --- PASS PLCE1 51196 broad.mit.edu 37 10 96039545 96039545 + Nonsense_Mutation SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr10:96039545C>T uc001kjk.2 + 20 5306 c.4672C>T c.(4672-4674)CAG>TAG p.Q1558* PLCE1_uc010qnx.1_Nonsense_Mutation_p.Q1542*|PLCE1_uc001kjm.2_Nonsense_Mutation_p.Q1250*|uc001kjo.1_RNA NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 1558 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) ACAGGCTCATCAGTTAGCATC 0.388 OREG0020383 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 76 --- --- --- --- PASS PSD 5662 broad.mit.edu 37 10 104176760 104176760 + Silent SNP G A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr10:104176760G>A uc001kvg.1 - 2 563 c.36C>T c.(34-36)GGC>GGT p.G12G PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Silent_p.G12G|PSD_uc001kvi.1_Silent_p.G12G|FBXL15_uc001kvj.1_5'Flank|FBXL15_uc001kvk.2_5'Flank NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 12 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) TGGCACAGTCGCCTTCCGAGC 0.721 4 21 --- --- --- --- PASS OR51V1 283111 broad.mit.edu 37 11 5221326 5221326 + Missense_Mutation SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr11:5221326C>G uc010qyz.1 - 1 605 c.605G>C c.(604-606)CGA>CCA p.R202P NM_001004760 NP_001004760 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, 202 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTATTGAATCGGATGTCTGA 0.408 12 106 --- --- --- --- PASS OR2D2 120776 broad.mit.edu 37 11 6913340 6913340 + Missense_Mutation SNP C T T rs143950338 TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr11:6913340C>T uc010rau.1 - 1 392 c.392G>A c.(391-393)CGT>CAT p.R131H NM_003700 NP_003691 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GTTAGGGTAACGCAGAGGATT 0.498 16 141 --- --- --- --- PASS EIF4G2 1982 broad.mit.edu 37 11 10820934 10820934 + Missense_Mutation SNP T G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr11:10820934T>G uc001mjc.2 - 20 2779 c.2362A>C c.(2362-2364)AGC>CGC p.S788R EIF4G2_uc001mjb.2_Missense_Mutation_p.S582R|EIF4G2_uc009ygf.2_Missense_Mutation_p.S582R|EIF4G2_uc001mjd.2_Missense_Mutation_p.S750R NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 788 W2. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GTTTCATCGCTGGGGGGGTTT 0.408 14 98 --- --- --- --- PASS EIF4G2 1982 broad.mit.edu 37 11 10820951 10820951 + Missense_Mutation SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr11:10820951C>G uc001mjc.2 - 20 2762 c.2345G>C c.(2344-2346)AGT>ACT p.S782T EIF4G2_uc001mjb.2_Missense_Mutation_p.S576T|EIF4G2_uc009ygf.2_Missense_Mutation_p.S576T|EIF4G2_uc001mjd.2_Missense_Mutation_p.S744T NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 782 W2. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GTTTACTTCACTAGAAATGTA 0.423 10 87 --- --- --- --- PASS SPDYC 387778 broad.mit.edu 37 11 64940229 64940229 + Silent SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr11:64940229C>T uc010rnz.1 + 6 591 c.591C>T c.(589-591)GTC>GTT p.V197V NM_001008778 NP_001008778 Q5MJ68 SPDYC_HUMAN speedy C 197 cell cycle nucleus protein kinase binding 0 TTCAGAGGGTCTGTCCACAGG 0.647 16 88 --- --- --- --- PASS SPDYC 387778 broad.mit.edu 37 11 64940371 64940371 + Missense_Mutation SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr11:64940371C>T uc010rnz.1 + 6 733 c.733C>T c.(733-735)CAT>TAT p.H245Y NM_001008778 NP_001008778 Q5MJ68 SPDYC_HUMAN speedy C 245 cell cycle nucleus protein kinase binding 0 CTCTGAATGTCATCGCCCTCC 0.572 16 138 --- --- --- --- PASS SF3B2 10992 broad.mit.edu 37 11 65835421 65835421 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr11:65835421G>C uc001ogy.1 + 20 2375 c.2335G>C c.(2335-2337)GAG>CAG p.E779Q PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.1_5'Flank NM_006842 NP_006833 Q13435 SF3B2_HUMAN splicing factor 3B subunit 2 779 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(2)|breast(1) 3 TCGCAGAAGTGAGACACCTCA 0.527 OREG0021094 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 141 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92534482 92534482 + Missense_Mutation SNP A G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr11:92534482A>G uc001pdj.3 + 9 8320 c.8303A>G c.(8302-8304)GAC>GGC p.D2768G NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2768 Extracellular (Potential).|Cadherin 25. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATTAAGCTTGACAAACGCCTT 0.448 TCGA Ovarian(4;0.039) 8 36 --- --- --- --- PASS SIK3 23387 broad.mit.edu 37 11 116730126 116730126 + Missense_Mutation SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr11:116730126C>T uc001ppy.2 - 19 2338 c.2302G>A c.(2302-2304)GCA>ACA p.A768T SIK3_uc001ppz.2_Missense_Mutation_p.A667T|SIK3_uc001pqa.2_Missense_Mutation_p.A768T|SIK3_uc001ppw.2_Missense_Mutation_p.A185T|SIK3_uc001ppx.2_Missense_Mutation_p.A206T|SIK3_uc001pqb.2_Missense_Mutation_p.A71T NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 768 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 CTGGAGCCTGCAGCTGTGCCT 0.597 OREG0003491 type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 15 86 --- --- --- --- PASS ABCD2 225 broad.mit.edu 37 12 40010967 40010967 + Missense_Mutation SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr12:40010967C>G uc001rmb.2 - 2 1369 c.943G>C c.(943-945)GAA>CAA p.E315Q NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 315 ABC transmembrane type-1. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 TGTTTCATTTCTACCTATAGA 0.299 7 73 --- --- --- --- PASS RASSF9 9182 broad.mit.edu 37 12 86199520 86199520 + Missense_Mutation SNP G A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr12:86199520G>A uc001taf.1 - 2 607 c.268C>T c.(268-270)CTT>TTT p.L90F NM_005447 NP_005438 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family 90 Ras-associating. endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity ovary(1) 1 AGTGGAGGAAGAACCCTTTCG 0.463 33 110 --- --- --- --- PASS PRDM4 11108 broad.mit.edu 37 12 108145615 108145615 + Silent SNP G A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr12:108145615G>A uc001tmp.2 - 5 1140 c.703C>T c.(703-705)CTG>TTG p.L235L PRDM4_uc001tmq.2_RNA NM_012406 NP_036538 Q9UKN5 PRDM4_HUMAN PR domain containing 4 235 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 TCCACAGACAGAGGTTCATGA 0.532 14 85 --- --- --- --- PASS KCTD10 83892 broad.mit.edu 37 12 109895804 109895804 + Nonsense_Mutation SNP G T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr12:109895804G>T uc001toi.1 - 4 555 c.467C>A c.(466-468)TCA>TAA p.S156* KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Nonsense_Mutation_p.S153*|KCTD10_uc001toj.1_Nonsense_Mutation_p.S165*|KCTD10_uc001tok.1_5'UTR NM_031954 NP_114160 Q9H3F6 BACD3_HUMAN potassium channel tetramerisation domain 156 proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex voltage-gated potassium channel activity 0 TACCTTATTTGAAGTCGCTAT 0.373 17 76 --- --- --- --- PASS STARD13 90627 broad.mit.edu 37 13 33704299 33704299 + Missense_Mutation SNP G A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr13:33704299G>A uc001uuw.2 - 5 641 c.515C>T c.(514-516)CCG>CTG p.P172L STARD13_uc001uuu.2_Missense_Mutation_p.P164L|STARD13_uc001uuv.2_Missense_Mutation_p.P54L|STARD13_uc001uux.2_Missense_Mutation_p.P137L|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.P157L NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 172 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) CGTGCCTCCCGGTGACCCATT 0.577 13 34 --- --- --- --- PASS SIX4 51804 broad.mit.edu 37 14 61190296 61190296 + Missense_Mutation SNP T C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr14:61190296T>C uc001xfc.2 - 1 497 c.497A>G c.(496-498)TAC>TGC p.Y166C SIX4_uc010app.1_Missense_Mutation_p.Y158C NM_017420 NP_059116 Q9UIU6 SIX4_HUMAN sine oculis homeobox homolog 4 166 nucleus breast(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(108;0.0275) GAGGATGCTGTAGAGCTCGGG 0.682 4 43 --- --- --- --- PASS SNAPC1 6617 broad.mit.edu 37 14 62249063 62249063 + Missense_Mutation SNP G C C rs145109867 TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr14:62249063G>C uc001xft.2 + 8 1028 c.924G>C c.(922-924)GAG>GAC p.E308D NM_003082 NP_003073 Q16533 SNPC1_HUMAN small nuclear RNA activating complex, 308 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186) GGAAAAAAGAGAAGAAAGAAA 0.393 5 70 --- --- --- --- PASS SNAPC1 6617 broad.mit.edu 37 14 62249095 62249095 + Missense_Mutation SNP A C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr14:62249095A>C uc001xft.2 + 8 1060 c.956A>C c.(955-957)AAG>ACG p.K319T NM_003082 NP_003073 Q16533 SNPC1_HUMAN small nuclear RNA activating complex, 319 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186) GCAGGAAGGAAGATGTCTCTC 0.368 4 48 --- --- --- --- PASS GALNTL1 57452 broad.mit.edu 37 14 69792679 69792679 + Missense_Mutation SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr14:69792679C>T uc010aqu.1 + 5 596 c.503C>T c.(502-504)CCG>CTG p.P168L GALNTL1_uc001xla.1_Missense_Mutation_p.P168L|GALNTL1_uc001xlb.1_Missense_Mutation_p.P168L NM_020692 NP_065743 Q8N428 GLTL1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 168 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(1)|central_nervous_system(1) 2 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) GCATCCTCAGCGGAAGACTGT 0.562 11 100 --- --- --- --- PASS C14orf68 283600 broad.mit.edu 37 14 100793708 100793708 + Splice_Site SNP G A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr14:100793708G>A uc001yhc.2 + 4 400 c.327_splice c.e4+1 p.R109_splice C14orf68_uc001yhd.2_Splice_Site NM_207117 NP_997000 Q6Q0C1 S2547_HUMAN chromosome 14 open reading frame 68 transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 Melanoma(154;0.152) CCTCGTCCGCGTGAGTAGGGG 0.662 8 67 --- --- --- --- PASS HSP90AA1 3320 broad.mit.edu 37 14 102552590 102552590 + Missense_Mutation SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr14:102552590C>G uc001yku.3 - 2 316 c.126G>C c.(124-126)GAG>GAC p.E42D HSP90AA1_uc001ykv.3_Missense_Mutation_p.E164D|HSP90AA1_uc001ykw.1_5'UTR|HSP90AA1_uc001ykx.1_Missense_Mutation_p.E31D NM_005348 NP_005339 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 2 42 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) TCAGAAAGATCTCTTTGTTCG 0.428 7 72 --- --- --- --- PASS HSP90AA1 3320 broad.mit.edu 37 14 102552599 102552599 + Silent SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr14:102552599C>G uc001yku.3 - 2 307 c.117G>C c.(115-117)TCG>TCC p.S39S HSP90AA1_uc001ykv.3_Silent_p.S161S|HSP90AA1_uc001ykw.1_5'UTR|HSP90AA1_uc001ykx.1_Silent_p.S28S NM_005348 NP_005339 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 2 39 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) TCTCTTTGTTCGAGTAGAAAG 0.428 8 69 --- --- --- --- PASS AQR 9716 broad.mit.edu 37 15 35202438 35202438 + Missense_Mutation SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr15:35202438C>T uc001ziv.2 - 17 1742 c.1561G>A c.(1561-1563)GAA>AAA p.E521K NM_014691 NP_055506 O60306 AQR_HUMAN aquarius 521 catalytic step 2 spliceosome RNA binding large_intestine(1) 1 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TTGGCCACTTCAACGACAGTG 0.468 26 170 --- --- --- --- PASS PYGO1 26108 broad.mit.edu 37 15 55838974 55838974 + Silent SNP G A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr15:55838974G>A uc010bfl.1 - 3 563 c.507C>T c.(505-507)GTC>GTT p.V169V PYGO1_uc002adf.1_Silent_p.V169V NM_015617 NP_056432 Q9Y3Y4 PYGO1_HUMAN pygopus homolog 1 169 Asn-rich. Wnt receptor signaling pathway nucleus zinc ion binding ovary(1)|skin(1) 2 all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18) TAGGCATGTTGACATTCTGAC 0.378 26 152 --- --- --- --- PASS MYO9A 4649 broad.mit.edu 37 15 72338533 72338533 + Nonsense_Mutation SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr15:72338533C>T uc002atl.3 - 2 845 c.372G>A c.(370-372)TGG>TGA p.W124* MYO9A_uc010biq.2_Intron|MYO9A_uc002ato.2_Nonsense_Mutation_p.W124*|MYO9A_uc002atn.1_Nonsense_Mutation_p.W124* NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 124 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 TTACCCGTAGCCATGACTGCA 0.448 35 132 --- --- --- --- PASS PDE8A 5151 broad.mit.edu 37 15 85664067 85664067 + Missense_Mutation SNP G A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr15:85664067G>A uc002blh.2 + 18 1963 c.1774G>A c.(1774-1776)GCA>ACA p.A592T PDE8A_uc002bli.2_Missense_Mutation_p.A546T|PDE8A_uc010bnc.2_Missense_Mutation_p.A345T|PDE8A_uc010bnd.2_Missense_Mutation_p.A345T|PDE8A_uc002blj.2_Missense_Mutation_p.A212T|PDE8A_uc002blk.2_Missense_Mutation_p.A212T|PDE8A_uc002bll.2_5'UTR NM_002605 NP_002596 O60658 PDE8A_HUMAN phosphodiesterase 8A isoform 1 592 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) TGCACTCATCGCAGCCACCAT 0.468 34 95 --- --- --- --- PASS HAGHL 84264 broad.mit.edu 37 16 777524 777524 + Silent SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr16:777524C>T uc002cjl.1 + 2 296 c.15C>T c.(13-15)GTC>GTT p.V5V CCDC78_uc002cjf.2_5'Flank|CCDC78_uc002cji.3_5'Flank|CCDC78_uc002cjg.2_5'Flank|CCDC78_uc002cjj.3_5'Flank|CCDC78_uc002cjh.2_5'Flank|CCDC78_uc010uuo.1_5'Flank|CCDC78_uc002cjk.2_5'Flank|HAGHL_uc002cjm.1_Silent_p.V5V|HAGHL_uc002cjn.1_Silent_p.V5V|HAGHL_uc002cjo.1_Silent_p.V5V|HAGHL_uc010uup.1_Silent_p.V5V NM_207112 NP_996995 Q6PII5 HAGHL_HUMAN hydroxyacylglutathione hydrolase-like isoform 1 5 hydrolase activity|metal ion binding 0 Hepatocellular(780;0.00335) AGGTCAAGGTCATCCCCGTGC 0.672 7 23 --- --- --- --- PASS VASN 114990 broad.mit.edu 37 16 4431778 4431778 + Silent SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr16:4431778C>T uc002cwj.1 + 2 1055 c.900C>T c.(898-900)TTC>TTT p.F300F CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron NM_138440 NP_612449 Q6EMK4 VASN_HUMAN slit-like 2 precursor 300 Extracellular (Potential).|LRRCT. extracellular region|integral to membrane 0 GCAACCCCTTCAACTGCGTGT 0.687 6 34 --- --- --- --- PASS ANKS4B 257629 broad.mit.edu 37 16 21262054 21262054 + Silent SNP G A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr16:21262054G>A uc010bwp.1 + 2 1210 c.1167G>A c.(1165-1167)CTG>CTA p.L389L CRYM_uc010bwq.1_Intron NM_145865 NP_665872 Q8N8V4 ANS4B_HUMAN harmonin-interacting ankyrin-repeat containing 389 SAM. ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0565) AAATGCAGCTGGGTCCCAGGA 0.507 36 156 --- --- --- --- PASS SCNN1B 6338 broad.mit.edu 37 16 23391849 23391849 + Silent SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr16:23391849C>T uc002dln.2 + 13 1826 c.1650C>T c.(1648-1650)ATC>ATT p.I550I NM_000336 NP_000327 P51168 SCNNB_HUMAN sodium channel, nonvoltage-gated 1, beta 550 Cytoplasmic (By similarity). excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(3)|breast(2)|large_intestine(1)|pancreas(1) 7 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) TTGTGTGGATCACCATCATCA 0.627 43 298 --- --- --- --- PASS VPS35 55737 broad.mit.edu 37 16 46694409 46694409 + Missense_Mutation SNP G T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr16:46694409G>T uc002eef.3 - 17 2465 c.2366C>A c.(2365-2367)CCA>CAA p.P789Q VPS35_uc002eed.2_3'UTR|VPS35_uc002eee.2_Missense_Mutation_p.P750Q NM_018206 NP_060676 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 789 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding 0 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TTCATAAATTGGCCCCTCGGA 0.423 16 109 --- --- --- --- PASS SALL1 6299 broad.mit.edu 37 16 51175080 51175080 + Silent SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr16:51175080C>T uc010vgs.1 - 2 1084 c.1053G>A c.(1051-1053)CCG>CCA p.P351P SALL1_uc010vgr.1_Silent_p.P254P|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 351 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TTTCAGAGGACGGGGTGGTAA 0.507 20 59 --- --- --- --- PASS PDPR 55066 broad.mit.edu 37 16 70166157 70166157 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr16:70166157G>C uc002eyf.1 + 9 1908 c.951G>C c.(949-951)AAG>AAC p.K317N CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.K217N|PDPR_uc002eyg.1_Missense_Mutation_p.K45N NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory 317 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.124) CTGAGGGCAAGAACCAGCTGG 0.428 8 110 --- --- --- --- PASS AP1G1 164 broad.mit.edu 37 16 71803595 71803595 + Silent SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr16:71803595G>C uc010cgg.2 - 6 887 c.573C>G c.(571-573)CTC>CTG p.L191L AP1G1_uc002fba.2_Silent_p.L191L|AP1G1_uc002fbb.2_Silent_p.L214L|AP1G1_uc010vmg.1_RNA|AP1G1_uc010vmh.1_Silent_p.L273L NM_001128 NP_001119 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 191 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity ovary(2) 2 Ovarian(137;0.125) CAGATGTGTGGAGGACACCTG 0.418 15 136 --- --- --- --- PASS PLCG2 5336 broad.mit.edu 37 16 81934360 81934360 + Missense_Mutation SNP A T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr16:81934360A>T uc002fgt.2 + 14 1489 c.1337A>T c.(1336-1338)CAG>CTG p.Q446L PLCG2_uc010chg.1_Missense_Mutation_p.Q446L NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 446 PI-PLC X-box. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 TCGCCCAGCCAGCTGCGGGAG 0.632 16 58 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577127 7577127 + Missense_Mutation SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr17:7577127C>T uc002gim.2 - 8 1005 c.811G>A c.(811-813)GAG>AAG p.E271K TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 271 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACACGCACCTCAAAGCTGTTC 0.537 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 9 43 --- --- --- --- PASS DNAH2 146754 broad.mit.edu 37 17 7678646 7678646 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr17:7678646G>C uc002giu.1 + 29 4821 c.4807G>C c.(4807-4809)GAA>CAA p.E1603Q NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 1603 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) AGTATTTTTAGAAGGCCCTGT 0.468 7 21 --- --- --- --- PASS TRIM37 4591 broad.mit.edu 37 17 57093108 57093108 + Missense_Mutation SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr17:57093108C>G uc002iwy.3 - 21 2883 c.2439G>C c.(2437-2439)TTG>TTC p.L813F TRIM37_uc002iwz.3_Missense_Mutation_p.L813F|TRIM37_uc002ixa.3_Missense_Mutation_p.L691F|TRIM37_uc010woc.1_Missense_Mutation_p.L779F NM_001005207 NP_001005207 O94972 TRI37_HUMAN tripartite motif-containing 37 protein 813 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1) 7 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TGCCATGTATCAAGGCTCGGG 0.428 Mulibrey_Nanism 32 88 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 7080394 7080394 + Missense_Mutation SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr18:7080394C>G uc002knm.2 - 2 218 c.124G>C c.(124-126)GGC>CGC p.G42R LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 42 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCCTTCTCGCCACAGGTGGCA 0.537 25 81 --- --- --- --- PASS KIAA1543 57662 broad.mit.edu 37 19 7676774 7676774 + Silent SNP C A A TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr19:7676774C>A uc002mgv.3 + 11 1496 c.1395C>A c.(1393-1395)ATC>ATA p.I465I KIAA1543_uc002mgu.3_Silent_p.I492I|KIAA1543_uc002mgw.2_5'Flank NM_020902 NP_065953 Q9P1Y5 CAMP3_HUMAN NEZHA isoform 2 465 Pro-rich. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding pancreas(1) 1 CTCTGCAGATCATCCACAGTG 0.731 5 39 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9045652 9045652 + Silent SNP G T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr19:9045652G>T uc002mkp.2 - 5 36183 c.35979C>A c.(35977-35979)ACC>ACA p.T11993T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11995 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 GTGTATTGAAGGTGGTTGTTG 0.478 9 57 --- --- --- --- PASS PDE4C 5143 broad.mit.edu 37 19 18329162 18329162 + Silent SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr19:18329162C>T uc010xqc.1 - 10 1692 c.1212G>A c.(1210-1212)CTG>CTA p.L404L PDE4C_uc002nik.3_Silent_p.L404L|PDE4C_uc002nil.3_Silent_p.L404L|PDE4C_uc002nif.3_Silent_p.L173L|PDE4C_uc002nig.3_Intron|PDE4C_uc002nih.3_Silent_p.L174L|PDE4C_uc010ebk.2_Silent_p.L298L|PDE4C_uc002nii.3_Silent_p.L372L|PDE4C_uc010ebl.2_Silent_p.L118L|PDE4C_uc010xqd.1_Silent_p.L173L NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN phosphodiesterase 4C isoform PDE4C-2 404 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|skin(2)|central_nervous_system(1) 5 Dyphylline(DB00651) CGGGCGTAGCCAGCAGCACAT 0.667 27 187 --- --- --- --- PASS FXYD5 53827 broad.mit.edu 37 19 35649254 35649254 + Silent SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr19:35649254C>G uc002nyg.1 + 4 236 c.150C>G c.(148-150)GTC>GTG p.V50V FXYD5_uc010xsq.1_Silent_p.V50V|FXYD5_uc002nyh.1_Silent_p.V50V NM_014164 NP_054883 Q96DB9 FXYD5_HUMAN FXYD domain-containing ion transport regulator 5 50 Extracellular (Potential). microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion integral to membrane actin binding|cadherin binding|ion channel activity 0 all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221) CAGATGCAGTCTACACAGAAC 0.547 13 110 --- --- --- --- PASS ZFP14 57677 broad.mit.edu 37 19 36832035 36832035 + Missense_Mutation SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr19:36832035C>G uc002odx.1 - 4 786 c.693G>C c.(691-693)AAG>AAC p.K231N ZFP14_uc010xtd.1_Missense_Mutation_p.K232N|ZFP14_uc010eex.1_Missense_Mutation_p.K231N NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 231 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) TCCCACACTCCTTACATTCAT 0.443 22 110 --- --- --- --- PASS ZNF570 148268 broad.mit.edu 37 19 37966894 37966894 + Missense_Mutation SNP A T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr19:37966894A>T uc002ogk.1 + 3 674 c.145A>T c.(145-147)ATC>TTC p.I49F ZNF570_uc010efl.1_Missense_Mutation_p.I105F|ZNF570_uc010xtr.1_5'UTR NM_144694 NP_653295 Q96NI8 ZN570_HUMAN zinc finger protein 570 49 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAACTACAGGATCTTGGTATC 0.418 24 110 --- --- --- --- PASS ZNF571 51276 broad.mit.edu 37 19 38055940 38055940 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr19:38055940G>C uc002ogt.2 - 4 1491 c.1390C>G c.(1390-1392)CAA>GAA p.Q464E uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.Q464E NM_016536 NP_057620 Q7Z3V5 ZN571_HUMAN zinc finger protein 571 464 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTCTCATGTTGAGTAAGATAT 0.363 18 106 --- --- --- --- PASS ZNF571 51276 broad.mit.edu 37 19 38056864 38056864 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr19:38056864G>C uc002ogt.2 - 4 567 c.466C>G c.(466-468)CAA>GAA p.Q156E uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.Q156E NM_016536 NP_057620 Q7Z3V5 ZN571_HUMAN zinc finger protein 571 156 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCCTCATGTTGAATAAGGCAT 0.343 20 82 --- --- --- --- PASS ZNF780B 163131 broad.mit.edu 37 19 40541731 40541731 + Silent SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr19:40541731C>G uc002omu.2 - 5 1100 c.1035G>C c.(1033-1035)CTG>CTC p.L345L ZNF780B_uc002omv.2_Silent_p.L197L NM_001005851 NP_001005851 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 345 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CAAGCTTTGTCAGAAGAGTAA 0.438 11 98 --- --- --- --- PASS SERTAD1 29950 broad.mit.edu 37 19 40928838 40928838 + Missense_Mutation SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr19:40928838C>T uc002ont.3 - 2 775 c.616G>A c.(616-618)GAA>AAA p.E206K NM_013376 NP_037508 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 206 positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent 0 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCCGGAGCTTCCTCCTTGCCC 0.612 4 44 --- --- --- --- PASS SPTBN4 57731 broad.mit.edu 37 19 40993680 40993680 + Silent SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr19:40993680C>T uc002ony.2 + 3 332 c.246C>T c.(244-246)ATC>ATT p.I82I SPTBN4_uc002onx.2_Silent_p.I82I|SPTBN4_uc002onz.2_Silent_p.I82I NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 82 CH 1.|Actin-binding. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCTGCCACATCGGGGACCTCT 0.657 17 76 --- --- --- --- PASS PSG6 5675 broad.mit.edu 37 19 43420433 43420433 + Missense_Mutation SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr19:43420433C>G uc002ovj.1 - 2 323 c.271G>C c.(271-273)GGG>CGG p.G91R PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ovf.1_Missense_Mutation_p.G91R|PSG6_uc002ovg.1_Missense_Mutation_p.G91R NM_002782 NP_002773 Q00889 PSG6_HUMAN pregnancy specific beta-1-glycoprotein 6 isoform 91 Ig-like V-type. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) TAGGCAGGCCCATATATAATT 0.443 67 452 --- --- --- --- PASS MYH7B 57644 broad.mit.edu 37 20 33589814 33589814 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr20:33589814G>C uc002xbi.1 + 42 5958 c.5866G>C c.(5866-5868)GAG>CAG p.E1956Q NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 1914 Potential. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) GGATGATGCGGAGGAGCGGGC 0.667 19 87 --- --- --- --- PASS EWSR1 2130 broad.mit.edu 37 22 29692264 29692264 + Missense_Mutation SNP C G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr22:29692264C>G uc003aet.2 + 12 1528 c.1200C>G c.(1198-1200)ATC>ATG p.I400M EWSR1_uc003aev.2_Missense_Mutation_p.I405M|EWSR1_uc003aew.2_Missense_Mutation_p.I344M|EWSR1_uc003aex.2_Missense_Mutation_p.I399M|EWSR1_uc003aey.2_Missense_Mutation_p.I195M|EWSR1_uc003aez.2_Missense_Mutation_p.I61M NM_005243 NP_005234 Q01844 EWS_HUMAN Ewing sarcoma breakpoint region 1 isoform 2 400 RRM. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2) bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1) 3254 TGATCCACATCTACCTGGACA 0.468 T FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1 Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma 22 83 --- --- --- --- PASS UBA1 7317 broad.mit.edu 37 X 47070251 47070251 + Missense_Mutation SNP C T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chrX:47070251C>T uc004dhj.3 + 19 2361 c.2210C>T c.(2209-2211)TCA>TTA p.S737L UBA1_uc004dhk.3_Missense_Mutation_p.S737L|UBA1_uc004dhm.2_Missense_Mutation_p.S185L NM_153280 NP_695012 P22314 UBA1_HUMAN ubiquitin-activating enzyme E1 737 cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity ovary(1) 1 CTCACAAGCTCAGGAGCGCCG 0.542 9 13 --- --- --- --- PASS PORCN 64840 broad.mit.edu 37 X 48378761 48378761 + Splice_Site SNP A T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chrX:48378761A>T uc010nie.1 + 15 1443 c.1285_splice c.e15-2 p.G429_splice PORCN_uc004djr.1_Splice_Site_p.G424_splice|PORCN_uc004djs.1_Splice_Site_p.G418_splice|PORCN_uc004djt.1_Splice_Site_p.G347_splice|PORCN_uc011mlx.1_Splice_Site_p.G347_splice|PORCN_uc004dju.1_Splice_Site_p.G287_splice|PORCN_uc004djv.1_Splice_Site_p.G429_splice|PORCN_uc004djw.1_Splice_Site_p.G423_splice|EBP_uc004djx.3_5'Flank|EBP_uc004djy.3_5'Flank|EBP_uc004djz.2_5'Flank NM_203475 NP_982301 Q9H237 PORCN_HUMAN porcupine isoform D Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity ovary(2)|central_nervous_system(1) 3 TCTCTCCCACAGGGCTACGGC 0.522 18 45 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73064048 73064048 + RNA SNP A G G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chrX:73064048A>G uc004ebm.1 - 1 c.8541T>C NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 TATACTGCAAATGGAGGGTGA 0.408 49 106 --- --- --- --- PASS SAGE1 55511 broad.mit.edu 37 X 134987410 134987410 + Splice_Site SNP G T T TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chrX:134987410G>T uc004ezh.2 + 5 481 c.314_splice c.e5-1 p.D105_splice SAGE1_uc010nry.1_Splice_Site_p.D74_splice|SAGE1_uc011mvv.1_Splice_Site_p.D105_splice NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) TCGGTTTCCAGATGCTACCAT 0.438 25 59 --- --- --- --- PASS MAGEA3 4102 broad.mit.edu 37 X 151935729 151935729 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chrX:151935729G>C uc004fgp.2 - 3 647 c.438C>G c.(436-438)TTC>TTG p.F146L NM_005362 NP_005353 P43357 MAGA3_HUMAN melanoma antigen family A, 3 146 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) TCACAGGAAAGAAATACTGCC 0.517 45 103 --- --- --- --- PASS USP9Y 8287 broad.mit.edu 37 Y 14922619 14922619 + Missense_Mutation SNP G C C TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chrY:14922619G>C uc004fst.1 + 29 5050 c.4105G>C c.(4105-4107)GAG>CAG p.E1369Q USP9Y_uc010nwu.1_RNA NM_004654 NP_004645 O00507 USP9Y_HUMAN ubiquitin specific protease 9, Y-linked 1369 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity 0 CACAGCAAGAGAGAAGGGTAA 0.318 3 23 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21266775 21266783 + In_Frame_Del DEL GCAGCGCCA - - rs17240441 TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr2:21266775_21266783delGCAGCGCCA uc002red.2 - 1 163_171 c.35_43delTGGCGCTGC c.(34-45)CTGGCGCTGCCT>CCT p.LAL12del NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 12_14 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) agcagcgcaggcagcgccagcagcgccag 0.622 4 2 --- --- --- --- AGAP4 119016 broad.mit.edu 37 10 46342668 46342688 + In_Frame_Del DEL GCTCCTGCCATCCTGTCCCCA - - TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx c9924f9f-fd86-434c-a83d-393d65272e64 db1a34ae-8288-4f5b-bcb9-eecbc91063ca g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA uc001jcx.3 - 1 234_254 c.108_128delTGGGGACAGGATGGCAGGAGC c.(106-129)GCTGGGGACAGGATGGCAGGAGCG>GCG p.36_43AGDRMAGA>A AGAP4_uc010qfl.1_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc001jcy.3_5'UTR NM_133446 NP_597703 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 36_43 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding ovary(1) 1 AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT 0.588 4 3 --- --- --- ---