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 PRDM16 63976 broad.mit.edu 37 1 3347564 3347564 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:3347564C>G uc001akf.2 + 15 3493 c.3413C>G c.(3412-3414)TCG>TGG p.S1138W PRDM16_uc001akc.2_Missense_Mutation_p.S1137W|PRDM16_uc001akd.2_Missense_Mutation_p.S1137W|PRDM16_uc001ake.2_Missense_Mutation_p.S1138W|PRDM16_uc009vlh.2_Missense_Mutation_p.S838W NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 1138 Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) GCCGGGAAGTCGCAGGATGAC 0.493 T EVI1 MDS|AML 3 11 --- --- --- --- PASS CCDC27 148870 broad.mit.edu 37 1 3683924 3683924 + Missense_Mutation SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:3683924T>C uc001akv.2 + 10 1739 c.1658T>C c.(1657-1659)CTG>CCG p.L553P NM_152492 NP_689705 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 553 skin(1) 1 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) TGGAAGCAGCTGCAGGAGGAT 0.597 10 67 --- --- --- --- PASS CA6 765 broad.mit.edu 37 1 9022676 9022676 + Missense_Mutation SNP A G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:9022676A>G uc001apm.2 + 5 556 c.532A>G c.(532-534)AGC>GGC p.S178G CA6_uc009vmn.2_Missense_Mutation_p.S118G NM_001215 NP_001206 P23280 CAH6_HUMAN carbonic anhydrase VI precursor 178 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding ovary(2) 2 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) CACTTATTACAGCAACTTCAT 0.498 24 148 --- --- --- --- PASS EPHA8 2046 broad.mit.edu 37 1 22923930 22923930 + Missense_Mutation SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:22923930G>C uc001bfx.1 + 10 2016 c.1891G>C c.(1891-1893)GAG>CAG p.E631Q NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 631 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCGGGAGATCGAGGCCTCTAG 0.652 4 175 --- --- --- --- PASS CNKSR1 10256 broad.mit.edu 37 1 26513718 26513718 + Missense_Mutation SNP T G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:26513718T>G uc001bln.3 + 15 1447 c.1389T>G c.(1387-1389)GAT>GAG p.D463E CNKSR1_uc001blm.3_Missense_Mutation_p.D456E|CNKSR1_uc009vsd.2_Missense_Mutation_p.D198E|CNKSR1_uc009vse.2_Missense_Mutation_p.D198E|CNKSR1_uc001blo.2_Missense_Mutation_p.D198E NM_006314 NP_006305 Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 463 PH. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging lung(1)|kidney(1) 2 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) GTGGACATGATCAGAAGAAGA 0.527 18 45 --- --- --- --- PASS BAI2 576 broad.mit.edu 37 1 32196407 32196407 + Silent SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:32196407G>T uc001btn.2 - 29 4728 c.4374C>A c.(4372-4374)TCC>TCA p.S1458S BAI2_uc001btm.2_Silent_p.S452S|BAI2_uc001btp.1_Silent_p.S452S|BAI2_uc010ogn.1_Silent_p.S428S|BAI2_uc010ogo.1_Silent_p.S1067S|BAI2_uc010ogp.1_Silent_p.S1391S|BAI2_uc010ogq.1_Silent_p.S1425S|BAI2_uc001bto.2_Silent_p.S1458S NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 1458 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) TCACCTCCAGGGAGCCCATCT 0.682 28 108 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34208955 34208955 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:34208955C>A uc001bxn.1 - 14 2008 c.1979G>T c.(1978-1980)AGT>ATT p.S660I CSMD2_uc001bxm.1_Missense_Mutation_p.S700I NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 660 Extracellular (Potential).|CUB 4. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CACGTGGCCACTGCTTGTGAT 0.592 17 88 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39801075 39801075 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:39801075C>G uc010oiu.1 + 1 4266 c.4135C>G c.(4135-4137)CAA>GAA p.Q1379E MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 2944 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AAGAGAAAATCAAGGGGAAGT 0.378 7 135 --- --- --- --- PASS TSPAN1 10103 broad.mit.edu 37 1 46650002 46650002 + Missense_Mutation SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:46650002T>C uc001cpd.2 + 4 661 c.197T>C c.(196-198)GTG>GCG p.V66A TSPAN1_uc009vyd.1_Missense_Mutation_p.V66A NM_005727 NP_005718 O60635 TSN1_HUMAN tetraspan 1 66 Helical; (Potential). integral to membrane|lysosomal membrane ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) Medulloblastoma(700;0.00498)|all_neural(321;0.0212) GCCGGCGTTGTGGTCTTTGCT 0.557 5 75 --- --- --- --- PASS NFIA 4774 broad.mit.edu 37 1 61824824 61824824 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:61824824C>G uc001czw.2 + 6 1308 c.824C>G c.(823-825)ACA>AGA p.T275R NFIA_uc001czy.2_Missense_Mutation_p.T267R|NFIA_uc010oos.1_Missense_Mutation_p.T320R|NFIA_uc001czv.2_Missense_Mutation_p.T275R NM_001134673 NP_001128145 Q12857 NFIA_HUMAN nuclear factor I/A isoform 1 275 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding pancreas(1)|skin(1) 2 TTCAGCTCCACAAAGCGCCTC 0.502 6 394 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75055466 75055466 + Missense_Mutation SNP T A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:75055466T>A uc001dgg.2 - 12 2244 c.2025A>T c.(2023-2025)AAA>AAT p.K675N uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.K469N NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 675 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CTTGGGTTCCTTTCTCCGTTC 0.408 37 185 --- --- --- --- PASS FAM73A 374986 broad.mit.edu 37 1 78272736 78272736 + Missense_Mutation SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:78272736T>C uc001dhx.2 + 5 619 c.587T>C c.(586-588)ATT>ACT p.I196T FAM73A_uc010ork.1_Missense_Mutation_p.I196T|FAM73A_uc010orl.1_Missense_Mutation_p.I158T|FAM73A_uc001dhy.1_5'UTR NM_198549 NP_940951 Q8NAN2 FA73A_HUMAN hypothetical protein LOC374986 196 integral to membrane ovary(1) 1 Colorectal(170;0.226) GAAGATGATATTAAACTTGTT 0.343 7 178 --- --- --- --- PASS ELTD1 64123 broad.mit.edu 37 1 79403966 79403966 + Splice_Site SNP T G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:79403966T>G uc001diq.3 - 5 553 c.397_splice c.e5-1 p.I133_splice NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GGATCTGATCTGAGAAAAAAT 0.313 9 41 --- --- --- --- PASS CELSR2 1952 broad.mit.edu 37 1 109815822 109815822 + Silent SNP A T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:109815822A>T uc001dxa.3 + 32 8434 c.8373A>T c.(8371-8373)CCA>CCT p.P2791P NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 2791 Cytoplasmic (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCCCCTGGCCAGGAGACTTTG 0.647 31 95 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152277174 152277174 + Silent SNP A T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:152277174A>T uc001ezu.1 - 3 10224 c.10188T>A c.(10186-10188)TCT>TCA p.S3396S NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3396 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGGCAGACTCAGACTGTTCAT 0.612 Ichthyosis 128 608 --- --- --- --- PASS ETV3 2117 broad.mit.edu 37 1 157104020 157104020 + Splice_Site SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:157104020C>A uc001fqr.2 - 4 574 c.285_splice c.e4-1 p.R95_splice ETV3_uc001fqt.2_Intron NM_001145312 NP_001138784 P41162 ETV3_HUMAN ets variant gene 3 isoform 1 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(266;0.158) Prostate(1639;0.174) GTAATAGTATCTGTAAAAACA 0.368 22 78 --- --- --- --- PASS CD1D 912 broad.mit.edu 37 1 158151509 158151509 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:158151509C>G uc001frr.2 + 3 825 c.326C>G c.(325-327)TCC>TGC p.S109C CD1D_uc009wsr.1_Missense_Mutation_p.S109C|CD1D_uc009wss.2_Missense_Mutation_p.S109C|CD1D_uc009wst.1_Missense_Mutation_p.S5C NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 109 Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) CTACGCTTATCCTGTGAGCTG 0.532 16 122 --- --- --- --- PASS PEA15 8682 broad.mit.edu 37 1 160182942 160182942 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:160182942G>A uc001fvk.2 + 3 405 c.215G>A c.(214-216)CGT>CAT p.R72H PEA15_uc001fvl.2_Missense_Mutation_p.R93H|PEA15_uc001fvm.2_Missense_Mutation_p.R50H NM_003768 NP_003759 Q15121 PEA15_HUMAN phosphoprotein enriched in astrocytes 15 72 DED. anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import cytoplasm|microtubule associated complex protein binding 0 all_cancers(52;3.11e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ATCTCCCGCCGTCCTGACCTA 0.542 22 264 --- --- --- --- PASS NCSTN 23385 broad.mit.edu 37 1 160319459 160319459 + Silent SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:160319459T>C uc001fvx.2 + 4 559 c.435T>C c.(433-435)TTT>TTC p.F145F NCSTN_uc009wtk.1_RNA|NCSTN_uc001fvy.2_Silent_p.F125F|NCSTN_uc010pjf.1_Silent_p.F145F|NCSTN_uc001fvz.2_5'Flank|NCSTN_uc010pjg.1_5'Flank NM_015331 NP_056146 Q92542 NICA_HUMAN nicastrin precursor 145 Extracellular (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding ovary(1)|lung(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ATGATGGGTTTGGTAAGTGTC 0.507 47 95 --- --- --- --- PASS POU2F1 5451 broad.mit.edu 37 1 167343475 167343475 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:167343475C>G uc001gec.2 + 7 626 c.464C>G c.(463-465)GCC>GGC p.A155G POU2F1_uc010plg.1_RNA|POU2F1_uc001ged.2_Missense_Mutation_p.A153G|POU2F1_uc001gee.2_Missense_Mutation_p.A155G|POU2F1_uc010plh.1_Intron|POU2F1_uc001gef.2_Missense_Mutation_p.A167G|POU2F1_uc001geg.2_Missense_Mutation_p.A53G NM_002697 NP_002688 P14859 PO2F1_HUMAN POU class 2 homeobox 1 155 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|skin(2)|breast(1) 5 ACCATCTCCGCCTCTGCTGCC 0.622 17 38 --- --- --- --- PASS SELP 6403 broad.mit.edu 37 1 169564103 169564103 + Nonsense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:169564103G>T uc001ggi.3 - 13 2179 c.2114C>A c.(2113-2115)TCA>TAA p.S705* SELP_uc001ggh.2_Nonsense_Mutation_p.S540*|SELP_uc009wvr.2_Nonsense_Mutation_p.S705* NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 705 Extracellular (Potential).|Sushi 9. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) ATGTAGTTCTGAGCATTTCAC 0.398 11 91 --- --- --- --- PASS CFHR5 81494 broad.mit.edu 37 1 196973805 196973805 + Missense_Mutation SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:196973805T>C uc001gts.3 + 9 1473 c.1345T>C c.(1345-1347)TGT>CGT p.C449R NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 449 Sushi 8. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 TACTGCATATTGTGGGCCCCC 0.368 7 238 --- --- --- --- PASS CHIT1 1118 broad.mit.edu 37 1 203188958 203188958 + Nonsense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:203188958C>T uc001gzn.2 - 8 845 c.749G>A c.(748-750)TGG>TAG p.W250* FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_Nonsense_Mutation_p.W41*|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Nonsense_Mutation_p.W241* NM_003465 NP_003456 Q13231 CHIT1_HUMAN chitotriosidase precursor 250 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity 0 CTTCTGCAGCCACTGTTGCAC 0.582 OREG0006436 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CHIT1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 25 42 --- --- --- --- PASS PLEKHA6 22874 broad.mit.edu 37 1 204228610 204228610 + Silent SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:204228610C>A uc001hau.2 - 8 1100 c.783G>T c.(781-783)GGG>GGT p.G261G PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 261 Pro-rich. ovary(3)|pancreas(1) 4 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GTTCCCCACCCCCTGGCACTC 0.662 31 68 --- --- --- --- PASS EPRS 2058 broad.mit.edu 37 1 220170329 220170329 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:220170329G>A uc001hly.1 - 18 2807 c.2537C>T c.(2536-2538)CCT>CTT p.P846L EPRS_uc010puf.1_Missense_Mutation_p.P597L|EPRS_uc001hlz.1_Missense_Mutation_p.P853L NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 846 WHEP-TRS 2.|3 X 57 AA approximate repeats. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) ACTGACCTTAGGGGATTTTTC 0.388 76 278 --- --- --- --- PASS EPRS 2058 broad.mit.edu 37 1 220179484 220179484 + Missense_Mutation SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:220179484G>C uc001hly.1 - 15 2184 c.1914C>G c.(1912-1914)GAC>GAG p.D638E EPRS_uc010puf.1_Missense_Mutation_p.D389E|EPRS_uc001hlz.1_Missense_Mutation_p.D645E|EPRS_uc009xdt.1_Intron NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 638 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TAAAGTCCTCGTCTTTTCCTA 0.363 53 191 --- --- --- --- PASS EPRS 2058 broad.mit.edu 37 1 220198593 220198593 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:220198593G>T uc001hly.1 - 7 901 c.631C>A c.(631-633)CAC>AAC p.H211N EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.H211N|EPRS_uc009xdt.1_Missense_Mutation_p.H12N NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 211 "Glutamyl-tRNA synthetase.|""HIGH"" region." ATP (By similarity). glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TGCCCAATGTGTAAGTAACTA 0.323 16 73 --- --- --- --- PASS ARF1 375 broad.mit.edu 37 1 228285654 228285654 + Silent SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:228285654C>T uc001hrr.2 + 5 714 c.486C>T c.(484-486)AGC>AGT p.S162S ARF1_uc001hrs.2_Silent_p.S162S|ARF1_uc001hrt.2_Missense_Mutation_p.R84W|ARF1_uc009xev.2_RNA|ARF1_uc001hru.2_Silent_p.S162S|ARF1_uc001hrv.2_Silent_p.S162S|ARF1_uc001hrw.2_Silent_p.S162S NM_001024226 NP_001019397 P84077 ARF1_HUMAN ADP-ribosylation factor 1 162 cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding|receptor signaling protein activity 0 Prostate(94;0.0405) GCGCCACCAGCGGCGACGGGC 0.612 4 100 --- --- --- --- PASS KIAA1804 84451 broad.mit.edu 37 1 233482294 233482294 + Silent SNP A T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:233482294A>T uc001hvt.3 + 2 1173 c.912A>T c.(910-912)ACA>ACT p.T304T KIAA1804_uc001hvs.1_Silent_p.T304T NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN mixed lineage kinase 4 304 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity lung(5)|central_nervous_system(2)|skin(1) 8 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) AAATGAGCACAGCAGGCACCT 0.463 53 100 --- --- --- --- PASS HNRNPU 3192 broad.mit.edu 37 1 245018908 245018908 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:245018908G>A uc001iaz.1 - 12 2388 c.2170C>T c.(2170-2172)CCT>TCT p.P724S HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.P448S|HNRNPU_uc001iba.1_Missense_Mutation_p.P705S NM_031844 NP_114032 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U 724 RNA-binding RGG-box.|Gly-rich. CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding 0 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) CGATTCCCAGGGGCTAAAAGA 0.463 23 124 --- --- --- --- PASS SMYD3 64754 broad.mit.edu 37 1 246027182 246027182 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr1:246027182C>T uc001ibl.2 - 9 915 c.820G>A c.(820-822)GAT>AAT p.D274N SMYD3_uc001ibk.2_Missense_Mutation_p.D215N|SMYD3_uc001ibi.2_Missense_Mutation_p.D85N|SMYD3_uc001ibj.2_Missense_Mutation_p.D85N NM_022743 NP_073580 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 274 cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding 0 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) GTTAGCATATCAGCATCCTGC 0.284 9 98 --- --- --- --- PASS MYT1L 23040 broad.mit.edu 37 2 1842948 1842948 + Missense_Mutation SNP A G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:1842948A>G uc002qxe.2 - 21 3880 c.3053T>C c.(3052-3054)GTC>GCC p.V1018A MYT1L_uc002qxd.2_Missense_Mutation_p.V1016A|MYT1L_uc010ewk.2_Missense_Mutation_p.V14A NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 1018 C2HC-type 6. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GCTGCCGCTGACGTGGCCTGA 0.652 4 22 --- --- --- --- PASS TMEM214 54867 broad.mit.edu 37 2 27260540 27260540 + Silent SNP C T T rs77468296 byFrequency TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:27260540C>T uc002ria.3 + 9 1232 c.1122C>T c.(1120-1122)ACC>ACT p.T374T TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Silent_p.T329T NM_017727 NP_060197 Q6NUQ4 TM214_HUMAN transmembrane protein 214 isoform 1 374 integral to membrane protein binding 0 CCAGAGCCACCCCTAGCTGTC 0.552 24 169 --- --- --- --- PASS TTC27 55622 broad.mit.edu 37 2 32927940 32927940 + Missense_Mutation SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:32927940G>C uc002rom.2 + 10 1417 c.1186G>C c.(1186-1188)GAG>CAG p.E396Q TTC27_uc010ymx.1_Missense_Mutation_p.E346Q NM_017735 NP_060205 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 396 protein binding central_nervous_system(1) 1 GACAAAACTTGAGAAAGGAAG 0.433 27 225 --- --- --- --- PASS RASGRP3 25780 broad.mit.edu 37 2 33752259 33752259 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:33752259G>T uc002rox.2 + 11 1490 c.863G>T c.(862-864)CGC>CTC p.R288L RASGRP3_uc010ync.1_Missense_Mutation_p.R288L|RASGRP3_uc002roy.2_Missense_Mutation_p.R288L NM_170672 NP_733772 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and 288 Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity lung(3)|ovary(1)|pancreas(1) 5 all_hematologic(175;0.115) TGCAATTACCGCAAGGCCTTT 0.458 7 71 --- --- --- --- PASS MAP4K3 8491 broad.mit.edu 37 2 39485574 39485574 + Missense_Mutation SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:39485574T>C uc002rro.2 - 31 2476 c.2385A>G c.(2383-2385)ATA>ATG p.I795M MAP4K3_uc002rrp.2_Missense_Mutation_p.I774M|MAP4K3_uc010yns.1_Missense_Mutation_p.I348M NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 795 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) TTACTATTTTTATACAACCTA 0.294 23 70 --- --- --- --- PASS FSHR 2492 broad.mit.edu 37 2 49217732 49217732 + Missense_Mutation SNP T A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:49217732T>A uc002rww.2 - 5 493 c.419A>T c.(418-420)AAG>ATG p.K140M FSHR_uc002rwx.2_Missense_Mutation_p.K140M|FSHR_uc010fbn.2_Missense_Mutation_p.K140M|FSHR_uc010fbo.1_RNA NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 140 Extracellular (Potential).|LRR 4. female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) AGAATGAATCTTGTGAACATC 0.383 Gonadal_Dysgenesis_46_XX 33 132 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50723176 50723176 + Silent SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:50723176T>C uc010fbq.2 - 15 4534 c.3057A>G c.(3055-3057)TCA>TCG p.S1019S NRXN1_uc002rxb.3_Silent_p.S651S|NRXN1_uc002rxe.3_Silent_p.S979S|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor 168 Extracellular (Potential).|Laminin G-like. angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GAGGTTTATTTGAGCTTCCTT 0.398 3 33 --- --- --- --- PASS C2orf78 388960 broad.mit.edu 37 2 74042951 74042951 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:74042951G>T uc002sjr.1 + 3 1722 c.1601G>T c.(1600-1602)GGC>GTC p.G534V NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 534 ovary(2) 2 GTGGTTGTTGGCAGTGCTACA 0.493 10 37 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90212098 90212098 + RNA SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:90212098C>G uc010fhm.2 + 26 c.3522C>G Parts of antibodies, mostly variable regions. TGGCCAGGCTCCCAGGCTCCT 0.592 37 129 --- --- --- --- PASS UNC50 25972 broad.mit.edu 37 2 99234637 99234637 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:99234637C>T uc002szc.3 + 6 802 c.650C>T c.(649-651)CCA>CTA p.P217L C2orf64_uc002sza.2_Intron|UNC50_uc002szb.2_Missense_Mutation_p.P217L|UNC50_uc010yvl.1_Missense_Mutation_p.P234L NM_014044 NP_054763 Q53HI1 UNC50_HUMAN unc-50 homolog 217 Cytoplasmic (Potential). protein transport Golgi membrane|integral to membrane|nuclear inner membrane RNA binding 0 CCAGCATTGCCATTTTTGAAA 0.353 6 22 --- --- --- --- PASS KCNJ3 3760 broad.mit.edu 37 2 155711809 155711809 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:155711809C>A uc002tyv.1 + 3 1685 c.1490C>A c.(1489-1491)TCT>TAT p.S497Y KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 497 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) AAAATGAACTCTGATCGCTTC 0.418 3 23 --- --- --- --- PASS DPP4 1803 broad.mit.edu 37 2 162902048 162902048 + Nonsense_Mutation SNP G T T rs141276765 TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:162902048G>T uc002ubz.2 - 5 921 c.360C>A c.(358-360)TAC>TAA p.Y120* DPP4_uc010fpb.2_5'UTR|DPP4_uc002uca.1_RNA|DPP4_uc002ucb.1_RNA NM_001935 NP_001926 P27487 DPP4_HUMAN dipeptidylpeptidase IV 120 Extracellular (Potential). cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity ovary(3) 3 Sitagliptin(DB01261) TTACCTTCACGTAGTTGTATT 0.299 48 116 --- --- --- --- PASS FIGN 55137 broad.mit.edu 37 2 164591418 164591418 + Missense_Mutation SNP A G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:164591418A>G uc002uck.1 - 2 331 c.20T>C c.(19-21)GTT>GCT p.V7A NM_018086 NP_060556 Q5HY92 FIGN_HUMAN fidgetin 7 nuclear matrix ATP binding|nucleoside-triphosphatase activity large_intestine(2)|ovary(1)|skin(1) 4 CATACCATAAACACTGGTGCT 0.378 30 82 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179399830 179399830 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:179399830C>G uc010zfg.1 - 307 94032 c.93808G>C c.(93808-93810)GAA>CAA p.E31270Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E24965Q|TTN_uc010zfi.1_Missense_Mutation_p.E24898Q|TTN_uc010zfj.1_Missense_Mutation_p.E24773Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32197 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGGATGTTTCAACACAACGA 0.383 31 219 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179408666 179408666 + Silent SNP A G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:179408666A>G uc010zfg.1 - 295 88725 c.88501T>C c.(88501-88503)TTG>CTG p.L29501L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L23196L|TTN_uc010zfi.1_Silent_p.L23129L|TTN_uc010zfj.1_Silent_p.L23004L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30428 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTATTAGCAATGAGTAGCTC 0.448 63 176 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179417067 179417067 + Missense_Mutation SNP A G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:179417067A>G uc010zfg.1 - 284 83080 c.82856T>C c.(82855-82857)ATT>ACT p.I27619T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I21314T|TTN_uc010zfi.1_Missense_Mutation_p.I21247T|TTN_uc010zfj.1_Missense_Mutation_p.I21122T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28546 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTCAAAGTAATTTTGTTTTC 0.383 33 98 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179610450 179610450 + Missense_Mutation SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:179610450G>C uc002unb.2 - 46 16901 c.16677C>G c.(16675-16677)TTC>TTG p.F5559L TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTCAACAGTGAACCTTCTTC 0.418 46 174 --- --- --- --- PASS DYTN 391475 broad.mit.edu 37 2 207527699 207527699 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:207527699C>T uc002vbr.1 - 11 1678 c.1561G>A c.(1561-1563)GAG>AAG p.E521K NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN dystrotelin 521 Potential. plasma membrane zinc ion binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TCCTCCAGCTCATCCTTTCTC 0.463 74 277 --- --- --- --- PASS PTH2R 5746 broad.mit.edu 37 2 209345847 209345847 + Missense_Mutation SNP G T T rs151296979 TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:209345847G>T uc002vdb.2 + 10 1247 c.1034G>T c.(1033-1035)TGG>TTG p.W345L PTH2R_uc010zjb.1_Missense_Mutation_p.W356L NM_005048 NP_005039 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor precursor 345 Cytoplasmic (Potential). integral to plasma membrane parathyroid hormone receptor activity ovary(1)|breast(1)|skin(1) 3 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) ACCAAAATCTGGGAGACCAAT 0.343 25 74 --- --- --- --- PASS MAP2 4133 broad.mit.edu 37 2 210545476 210545476 + Missense_Mutation SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:210545476G>C uc002vde.1 + 6 627 c.379G>C c.(379-381)GCT>CCT p.A127P MAP2_uc002vdc.1_Missense_Mutation_p.A127P|MAP2_uc002vdd.1_Missense_Mutation_p.A127P|MAP2_uc002vdf.1_Missense_Mutation_p.A127P|MAP2_uc002vdg.1_Missense_Mutation_p.A127P|MAP2_uc002vdh.1_Missense_Mutation_p.A127P|MAP2_uc002vdi.1_Missense_Mutation_p.A127P NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 127 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) ATCTTTAGCAGCTGAAGAAAC 0.428 89 369 --- --- --- --- PASS BARD1 580 broad.mit.edu 37 2 215645366 215645366 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:215645366G>T uc002veu.2 - 4 1367 c.1232C>A c.(1231-1233)CCC>CAC p.P411H BARD1_uc010zjm.1_Missense_Mutation_p.P267H NM_000465 NP_000456 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 411 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CATTGCTGAGGGACTAGACAT 0.408 Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 4 196 --- --- --- --- PASS AGFG1 3267 broad.mit.edu 37 2 228401617 228401617 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:228401617C>G uc002vpc.2 + 10 1536 c.1286C>G c.(1285-1287)GCT>GGT p.A429G AGFG1_uc002vpd.2_Missense_Mutation_p.A453G|AGFG1_uc002vpe.2_Missense_Mutation_p.A429G|AGFG1_uc002vpf.2_Missense_Mutation_p.A389G NM_004504 NP_004495 P52594 AGFG1_HUMAN HIV-1 Rev binding protein isoform 2 429 A -> R (in Ref. 2; CAA61667). cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 TTTTTTAAAGCTACGCCTTCC 0.328 10 91 --- --- --- --- PASS GIGYF2 26058 broad.mit.edu 37 2 233671277 233671277 + Silent SNP G A A rs114498122 byFrequency TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr2:233671277G>A uc002vti.3 + 17 2053 c.1716G>A c.(1714-1716)GCG>GCA p.A572A GIGYF2_uc010zmj.1_Silent_p.A572A|GIGYF2_uc002vtg.2_Silent_p.A566A|GIGYF2_uc002vtj.3_Silent_p.A593A|GIGYF2_uc002vtk.3_Silent_p.A572A|GIGYF2_uc002vth.3_Silent_p.A566A|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Silent_p.A403A NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 572 GYF. cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TGAAGAGAGCGTGTGATGAAA 0.453 121 224 --- --- --- --- PASS FBXW12 285231 broad.mit.edu 37 3 48416948 48416948 + Missense_Mutation SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr3:48416948T>C uc003csr.2 + 5 577 c.391T>C c.(391-393)TGG>CGG p.W131R FBXW12_uc010hjv.2_Missense_Mutation_p.W112R|FBXW12_uc003css.2_Missense_Mutation_p.W131R|FBXW12_uc010hjw.2_Missense_Mutation_p.W52R NM_207102 NP_996985 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 isoform 131 WD 1. 0 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCTTTGTGCCTGGGATGTGCA 0.423 34 127 --- --- --- --- PASS QRICH1 54870 broad.mit.edu 37 3 49067898 49067898 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr3:49067898C>G uc010hkq.2 - 11 2614 c.2318G>C c.(2317-2319)AGC>ACC p.S773T IMPDH2_uc003cvt.2_5'Flank|IMPDH2_uc010hkp.1_5'Flank|QRICH1_uc003cvu.2_Missense_Mutation_p.S773T|QRICH1_uc003cvv.2_Missense_Mutation_p.S773T NM_198880 NP_942581 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 773 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GTGCATAGTGCTTGCATTGGC 0.483 5 94 --- --- --- --- PASS DOCK3 1795 broad.mit.edu 37 3 51265417 51265417 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr3:51265417G>T uc011bds.1 + 17 1568 c.1545G>T c.(1543-1545)AAG>AAT p.K515N NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 515 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TTACAGCAAAGGACAAAGGGG 0.428 6 60 --- --- --- --- PASS PBRM1 55193 broad.mit.edu 37 3 52651314 52651314 + Silent SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr3:52651314G>A uc003des.2 - 14 1794 c.1782C>T c.(1780-1782)TTC>TTT p.F594F PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Silent_p.F594F|PBRM1_uc003der.2_Silent_p.F562F|PBRM1_uc003det.2_Silent_p.F609F|PBRM1_uc003deu.2_Silent_p.F609F|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Silent_p.F594F|PBRM1_uc010hmk.1_Silent_p.F594F|PBRM1_uc003dey.2_Silent_p.F594F|PBRM1_uc003dez.1_Silent_p.F594F|PBRM1_uc003dfb.1_Silent_p.F507F|PBRM1_uc003dfc.2_5'Flank NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 594 Bromo 4. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TGGCATTCCGGAACATCAGCT 0.463 Mis|N|F|S|D|O clear cell renal carcinoma|breast 12 70 --- --- --- --- PASS KLF15 28999 broad.mit.edu 37 3 126071007 126071007 + Silent SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr3:126071007G>A uc011bkk.1 - 2 941 c.759C>T c.(757-759)GTC>GTT p.V253V NM_014079 NP_054798 Q9UIH9 KLF15_HUMAN Kruppel-like factor 15 253 nucleus DNA binding|zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(114;0.147) CCTGGATGTTGACCAGGAGCT 0.622 3 16 --- --- --- --- PASS H1FOO 132243 broad.mit.edu 37 3 129268069 129268069 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr3:129268069G>T uc003emu.2 + 3 609 c.604G>T c.(604-606)GGC>TGC p.G202C H1FOO_uc003emv.2_Missense_Mutation_p.G63C NM_153833 NP_722575 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 202 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding skin(1) 1 CAAGCAAGGCGGCGCGGCCAA 0.647 3 6 --- --- --- --- PASS KY 339855 broad.mit.edu 37 3 134322634 134322634 + Silent SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr3:134322634G>C uc010hty.2 - 11 1835 c.1773C>G c.(1771-1773)GCC>GCG p.A591A KY_uc011blw.1_3'UTR|KY_uc011blx.1_Silent_p.A570A NM_178554 NP_848649 Q8NBH2 KY_HUMAN kyphoscoliosis peptidase Error:Variant_position_missing_in_Q8NBH2_after_alignment cytoskeleton|Z disc peptidase activity ovary(2) 2 CATTCCGGTTGGCAGGAAGCA 0.557 6 87 --- --- --- --- PASS PRR23B 389151 broad.mit.edu 37 3 138739282 138739282 + Silent SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr3:138739282G>A uc003esy.1 - 1 487 c.222C>T c.(220-222)GAC>GAT p.D74D NM_001013650 NP_001013672 Q6ZRT6 PR23B_HUMAN proline rich 23B 74 breast(1) 1 GGTCGACGTCGTCCAGGGGCA 0.697 11 41 --- --- --- --- PASS TSC22D2 9819 broad.mit.edu 37 3 150128694 150128694 + Silent SNP T A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr3:150128694T>A uc003exv.2 + 1 1907 c.1557T>A c.(1555-1557)CCT>CCA p.P519P TSC22D2_uc003exw.2_RNA|TSC22D2_uc003exx.2_Silent_p.P519P NM_014779 NP_055594 O75157 T22D2_HUMAN TSC22 domain family, member 2 519 sequence-specific DNA binding transcription factor activity ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CAAGCGTGCCTAGTGTGTCTA 0.632 5 85 --- --- --- --- PASS ZBBX 79740 broad.mit.edu 37 3 166960356 166960356 + Missense_Mutation SNP T A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr3:166960356T>A uc003fep.2 - 20 2536 c.2213A>T c.(2212-2214)CAG>CTG p.Q738L ZBBX_uc011bpc.1_Missense_Mutation_p.Q777L|ZBBX_uc003feq.2_Missense_Mutation_p.Q709L NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 738 intracellular zinc ion binding ovary(2) 2 TGTGGAAATCTGACTTATATT 0.368 32 76 --- --- --- --- PASS MFN1 55669 broad.mit.edu 37 3 179096197 179096197 + Silent SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr3:179096197C>T uc003fjs.2 + 13 1524 c.1398C>T c.(1396-1398)AAC>AAT p.N466N MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.N494N|MFN1_uc010hxc.2_Intron NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 466 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) ATGAAGTAAACGCCTTAGTGC 0.353 8 96 --- --- --- --- PASS ABCF3 55324 broad.mit.edu 37 3 183907499 183907499 + Missense_Mutation SNP A G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr3:183907499A>G uc003fmz.2 + 13 1401 c.1268A>G c.(1267-1269)CAG>CGG p.Q423R ABCF3_uc003fna.2_Missense_Mutation_p.Q417R|ABCF3_uc003fnb.2_Missense_Mutation_p.Q104R NM_018358 NP_060828 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), 423 ABC transporter 1. ATP binding|ATPase activity ovary(3)|lung(1) 4 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CTGCTCAACCAGCAGCGTGAA 0.607 12 29 --- --- --- --- PASS EPHB3 2049 broad.mit.edu 37 3 184294844 184294844 + Silent SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr3:184294844G>T uc003foz.2 + 5 1664 c.1227G>T c.(1225-1227)CGG>CGT p.R409R NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 409 Fibronectin type-III 1.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) CGGAGCGCCGGGTCCACATCA 0.647 45 116 --- --- --- --- PASS LRRC15 131578 broad.mit.edu 37 3 194080070 194080070 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr3:194080070C>A uc003ftu.2 - 2 1789 c.1703G>T c.(1702-1704)AGC>ATC p.S568I LRRC15_uc003ftt.2_Missense_Mutation_p.S574I NM_130830 NP_570843 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 isoform b 568 Cytoplasmic (Potential). integral to membrane ovary(3) 3 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) GACAGCTTGGCTCCTCTTCTT 0.597 13 161 --- --- --- --- PASS WHSC2 7469 broad.mit.edu 37 4 1985126 1985126 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr4:1985126C>T uc003gem.2 - 11 1780 c.1540G>A c.(1540-1542)GAC>AAC p.D514N WHSC2_uc003gek.2_Missense_Mutation_p.D240N|WHSC2_uc003gel.2_Missense_Mutation_p.D428N|WHSC2_uc003gen.2_Missense_Mutation_p.D368N NM_005663 NP_005654 Q9H3P2 NELFA_HUMAN Wolf-Hirschhorn syndrome candidate 2 protein 503 multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm skin(1) 1 OV - Ovarian serous cystadenocarcinoma(23;0.0155) AACACTGTGTCCACCAGCATG 0.597 45 202 --- --- --- --- PASS TBC1D14 57533 broad.mit.edu 37 4 6925734 6925734 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr4:6925734C>A uc011bwg.1 + 2 697 c.618C>A c.(616-618)AGC>AGA p.S206R TBC1D14_uc003gjs.3_Missense_Mutation_p.S206R NM_001113361 NP_001106832 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 isoform a 206 intracellular Rab GTPase activator activity ovary(1)|pancreas(1) 2 TCACCTTGAGCTCTATCAAGG 0.488 10 61 --- --- --- --- PASS ZNF518B 85460 broad.mit.edu 37 4 10445664 10445664 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr4:10445664C>A uc003gmn.2 - 3 2776 c.2289G>T c.(2287-2289)AAG>AAT p.K763N NM_053042 NP_444270 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 763 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 CAACATGAGCCTTCCTGGCCA 0.453 54 107 --- --- --- --- PASS PROM1 8842 broad.mit.edu 37 4 16010597 16010597 + Missense_Mutation SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr4:16010597T>C uc003goo.2 - 11 1488 c.1276A>G c.(1276-1278)ACA>GCA p.T426A PROM1_uc003gor.2_Missense_Mutation_p.T426A|PROM1_uc003gos.2_Missense_Mutation_p.T417A|PROM1_uc003got.2_Missense_Mutation_p.T426A|PROM1_uc003gou.2_Missense_Mutation_p.T417A|PROM1_uc003gop.2_Missense_Mutation_p.T417A|PROM1_uc003goq.3_Missense_Mutation_p.T417A|PROM1_uc010iec.1_Missense_Mutation_p.T304A NM_006017 NP_006008 O43490 PROM1_HUMAN prominin 1 isoform 1 426 Extracellular (Potential). camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1) 7 TCTTCCAATGTAGGTAAATTT 0.378 8 30 --- --- --- --- PASS GABRG1 2565 broad.mit.edu 37 4 46043016 46043016 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr4:46043016G>T uc003gxb.2 - 9 1539 c.1387C>A c.(1387-1389)CTT>ATT p.L463I NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 463 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TATAAGTAAAGATAGCCAACC 0.318 9 81 --- --- --- --- PASS CEP135 9662 broad.mit.edu 37 4 56878146 56878146 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr4:56878146C>G uc003hbi.2 + 21 3031 c.2797C>G c.(2797-2799)CAA>GAA p.Q933E CEP135_uc003hbj.2_Missense_Mutation_p.Q639E NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 933 Potential. centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) AAAAGAAATTCAAGAGGTAAT 0.289 7 53 --- --- --- --- PASS CNOT6L 246175 broad.mit.edu 37 4 78650191 78650191 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr4:78650191C>T uc011ccd.1 - 10 1200 c.1069G>A c.(1069-1071)GCA>ACA p.A357T CNOT6L_uc003hks.2_Missense_Mutation_p.A357T|CNOT6L_uc003hkt.1_Missense_Mutation_p.A200T NM_144571 NP_653172 Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 357 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding p.V357I(1) large_intestine(1) 1 TGGGCATTTGCCACTATAAGC 0.388 4 230 --- --- --- --- PASS HERC6 55008 broad.mit.edu 37 4 89361102 89361102 + Missense_Mutation SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr4:89361102G>C uc011cdi.1 + 21 2815 c.2632G>C c.(2632-2634)GGA>CGA p.G878R HERC6_uc011cdj.1_Missense_Mutation_p.G842R|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN hect domain and RLD 6 isoform 1 878 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity lung(3)|ovary(1)|kidney(1) 5 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) ATTTCAGAGAGGATTTTATAG 0.333 20 29 --- --- --- --- PASS NHEDC1 150159 broad.mit.edu 37 4 103822366 103822366 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr4:103822366G>T uc003hww.2 - 12 1578 c.1456C>A c.(1456-1458)CTA>ATA p.L486I NHEDC1_uc003hwu.2_Intron|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Missense_Mutation_p.L259I NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Na+/H+ exchanger domain containing 1 isoform 1 486 Helical; (Potential). integral to membrane solute:hydrogen antiporter activity ovary(1)|skin(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;1.5e-08) CCCATAAGTAGAGCTCCATTT 0.413 17 522 --- --- --- --- PASS GAR1 54433 broad.mit.edu 37 4 110745172 110745172 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr4:110745172G>T uc003hzt.2 + 6 930 c.623G>T c.(622-624)AGA>ATA p.R208I GAR1_uc003hzu.2_Missense_Mutation_p.R208I|GAR1_uc010imi.2_Missense_Mutation_p.R190I NM_018983 NP_061856 Q9NY12 GAR1_HUMAN nucleolar protein family A, member 1 208 RGG-box 2. rRNA processing|snRNA pseudouridine synthesis box H/ACA snoRNP complex|Cajal body cation channel activity|pseudouridine synthase activity|snoRNA binding 0 AGAGGAGGAAGAGGTGGTGGT 0.318 75 120 --- --- --- --- PASS FBXW7 55294 broad.mit.edu 37 4 153244194 153244194 + Nonsense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr4:153244194C>A uc003ims.2 - 12 2112 c.1963G>T c.(1963-1965)GAA>TAA p.E655* FBXW7_uc011cii.1_Nonsense_Mutation_p.E655*|FBXW7_uc003imt.2_Nonsense_Mutation_p.E655*|FBXW7_uc011cih.1_Nonsense_Mutation_p.E479*|FBXW7_uc003imq.2_Nonsense_Mutation_p.E575*|FBXW7_uc003imr.2_Nonsense_Mutation_p.E537* NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 655 WD 7. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) CGAATAAATTCACCCGTTTTC 0.468 Mis|N|D|F colorectal|endometrial|T-ALL 86 152 --- --- --- --- PASS TRIM60 166655 broad.mit.edu 37 4 165961611 165961611 + Silent SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr4:165961611C>T uc003iqy.1 + 3 557 c.387C>T c.(385-387)TAC>TAT p.Y129Y TRIM60_uc010iqx.1_Silent_p.Y129Y NM_152620 NP_689833 Q495X7 TRI60_HUMAN ring finger protein 129 129 B box-type. intracellular zinc ion binding skin(1) 1 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) AGAAGCACTACATTTGCCCTA 0.388 4 107 --- --- --- --- PASS CLCN3 1182 broad.mit.edu 37 4 170628195 170628195 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr4:170628195G>T uc003isi.2 + 11 2436 c.1927G>T c.(1927-1929)GAT>TAT p.D643Y CLCN3_uc003ish.2_Missense_Mutation_p.D643Y|CLCN3_uc011cjz.1_Missense_Mutation_p.D626Y|CLCN3_uc011cka.1_Missense_Mutation_p.D616Y|CLCN3_uc003isj.1_Missense_Mutation_p.D616Y NM_001829 NP_001820 P51790 CLCN3_HUMAN chloride channel 3 isoform b 643 Cytoplasmic (By similarity). endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(2)|ovary(1) 3 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) CCCTTTCTTGGATGCAAAAGA 0.468 19 143 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187541367 187541367 + Nonsense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr4:187541367C>A uc003izf.2 - 10 6561 c.6373G>T c.(6373-6375)GAA>TAA p.E2125* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2125 Extracellular (Potential).|Cadherin 19. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TGAAAGTGTTCATGATGTTCC 0.423 HNSCC(5;0.00058) 87 171 --- --- --- --- PASS SLC6A19 340024 broad.mit.edu 37 5 1213604 1213604 + Silent SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr5:1213604C>G uc003jbw.3 + 5 746 c.690C>G c.(688-690)CCC>CCG p.P230P NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 230 Helical; Name=5; (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CCACGCTGCCCTATGTCGTCC 0.572 8 109 --- --- --- --- PASS PAPD7 11044 broad.mit.edu 37 5 6743891 6743891 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr5:6743891G>A uc003jdx.1 + 6 562 c.433G>A c.(433-435)GAA>AAA p.E145K PAPD7_uc011cmn.1_Missense_Mutation_p.E136K|PAPD7_uc010itl.1_5'Flank NM_006999 NP_008930 Q5XG87 PAPD7_HUMAN DNA polymerase sigma 145 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding ovary(1) 1 GGACCTGAATGAAGTTTTTAC 0.348 24 397 --- --- --- --- PASS MYO10 4651 broad.mit.edu 37 5 16694657 16694657 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr5:16694657C>A uc003jft.3 - 27 4091 c.3623G>T c.(3622-3624)CGC>CTC p.R1208L MYO10_uc011cnc.1_Missense_Mutation_p.R87L|MYO10_uc011cnd.1_Missense_Mutation_p.R565L|MYO10_uc011cne.1_Missense_Mutation_p.R565L|MYO10_uc010itx.2_Missense_Mutation_p.R831L NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1208 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 CTGCTTGGAGCGGAACCACAA 0.572 187 149 --- --- --- --- PASS MYO10 4651 broad.mit.edu 37 5 16694658 16694658 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr5:16694658G>A uc003jft.3 - 27 4090 c.3622C>T c.(3622-3624)CGC>TGC p.R1208C MYO10_uc011cnc.1_Missense_Mutation_p.R87C|MYO10_uc011cnd.1_Missense_Mutation_p.R565C|MYO10_uc011cne.1_Missense_Mutation_p.R565C|MYO10_uc010itx.2_Missense_Mutation_p.R831C NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1208 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 TGCTTGGAGCGGAACCACAAG 0.567 187 150 --- --- --- --- PASS BASP1 10409 broad.mit.edu 37 5 17275787 17275787 + Silent SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr5:17275787C>T uc003jfx.2 + 2 641 c.462C>T c.(460-462)CCC>CCT p.P154P NM_006317 NP_006308 P80723 BASP1_HUMAN brain abundant, membrane attached signal protein 154 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding 0 CTGAGGCGCCCGCAGCTCCTG 0.502 9 11 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24593368 24593368 + Splice_Site SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr5:24593368C>A uc003jgr.1 - 2 563 c.231_splice c.e2+1 p.K77_splice CDH10_uc011cnu.1_Splice_Site NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) CACAAGCTTACCTTGCCTACG 0.318 HNSCC(23;0.051) 151 136 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24593369 24593369 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr5:24593369C>A uc003jgr.1 - 2 563 c.231G>T c.(229-231)AAG>AAT p.K77N CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 77 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) ACAAGCTTACCTTGCCTACGT 0.323 HNSCC(23;0.051) 153 137 --- --- --- --- PASS C5orf22 55322 broad.mit.edu 37 5 31534400 31534400 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr5:31534400G>T uc003jhj.3 + 2 230 c.103G>T c.(103-105)GCC>TCC p.A35S RNASEN_uc003jhh.2_5'Flank|RNASEN_uc003jhg.2_5'Flank|RNASEN_uc003jhi.2_5'Flank|C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_5'UTR NM_018356 NP_060826 Q49AR2 CE022_HUMAN hypothetical protein LOC55322 35 ovary(2) 2 TATATACCGGGCCATAGGCTC 0.423 20 285 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33527346 33527346 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr5:33527346G>T uc003jia.1 - 24 4895 c.4732C>A c.(4732-4734)CAC>AAC p.H1578N ADAMTS12_uc010iuq.1_Missense_Mutation_p.H1493N NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1578 H -> R (in Ref. 4; AAI31734). proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CTTTGGGTGTGTGTGATGTGT 0.532 HNSCC(64;0.19) 56 537 --- --- --- --- PASS NNT 23530 broad.mit.edu 37 5 43644885 43644885 + Missense_Mutation SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr5:43644885G>C uc003joe.2 + 9 1526 c.1271G>C c.(1270-1272)AGA>ACA p.R424T NNT_uc003jof.2_Missense_Mutation_p.R424T NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 424 Mitochondrial matrix. tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) CATGTCATTAGAGGAACTGTA 0.333 127 99 --- --- --- --- PASS PCDHGB2 56103 broad.mit.edu 37 5 140739886 140739886 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr5:140739886C>T uc003ljs.1 + 1 184 c.184C>T c.(184-186)CCA>TCA p.P62S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.P62S NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 62 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGGGACTTGCCAGCCCGGAA 0.537 5 125 --- --- --- --- PASS PCDHGA10 56106 broad.mit.edu 37 5 140794992 140794992 + Silent SNP T G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr5:140794992T>G uc003lkl.1 + 1 2250 c.2250T>G c.(2248-2250)GTT>GTG p.V750V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.V750V|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 750 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGACGGGGTTCGGGCTTTCC 0.632 41 102 --- --- --- --- PASS PCDHGA10 56106 broad.mit.edu 37 5 140794994 140794994 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr5:140794994G>A uc003lkl.1 + 1 2252 c.2252G>A c.(2251-2253)CGG>CAG p.R751Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.R751Q|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 751 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGGGGTTCGGGCTTTCCTG 0.627 43 103 --- --- --- --- PASS TIGD6 81789 broad.mit.edu 37 5 149374569 149374569 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr5:149374569G>T uc003lri.2 - 2 2105 c.1343C>A c.(1342-1344)GCA>GAA p.A448E TIGD6_uc003lrj.2_Missense_Mutation_p.A448E NM_030953 NP_112215 Q17RP2 TIGD6_HUMAN hypothetical protein LOC81789 448 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TTCACTTCCTGCTTCACTGGT 0.438 53 140 --- --- --- --- PASS FAT2 2196 broad.mit.edu 37 5 150947352 150947352 + Missense_Mutation SNP C A A rs149703698 TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr5:150947352C>A uc003lue.3 - 1 1154 c.1141G>T c.(1141-1143)GTG>TTG p.V381L GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.V381L NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 381 Extracellular (Potential).|Cadherin 3. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCATCACCACGCGGCTGCCA 0.498 4 136 --- --- --- --- PASS CYFIP2 26999 broad.mit.edu 37 5 156788526 156788526 + Missense_Mutation SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr5:156788526G>C uc003lwq.2 + 28 3097 c.2959G>C c.(2959-2961)GAG>CAG p.E987Q CYFIP2_uc011ddn.1_Missense_Mutation_p.E961Q|CYFIP2_uc011ddo.1_Missense_Mutation_p.E791Q|CYFIP2_uc003lwr.2_Missense_Mutation_p.E987Q|CYFIP2_uc003lws.2_Missense_Mutation_p.E987Q|CYFIP2_uc003lwt.2_Missense_Mutation_p.E890Q|CYFIP2_uc011ddp.1_Missense_Mutation_p.E721Q NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1012 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGAGTACGCAGAGCTCAAAAC 0.547 7 68 --- --- --- --- PASS ADRA1B 147 broad.mit.edu 37 5 159344738 159344738 + Missense_Mutation SNP A G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr5:159344738A>G uc003lxt.1 + 1 999 c.826A>G c.(826-828)AGG>GGG p.R276G NM_000679 NP_000670 P35368 ADA1B_HUMAN alpha-1B-adrenergic receptor 276 Cytoplasmic (By similarity). cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity lung(1) 1 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) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) CCACAACCCCAGGAGTTCCAT 0.502 61 135 --- --- --- --- PASS MIR585 693170 broad.mit.edu 37 5 168690660 168690660 + RNA SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr5:168690660G>A hsa-mir-585|MI0003592 - c.39G>A SLIT3_uc003mab.2_Intron|SLIT3_uc010jjg.2_Intron|SLIT3_uc010jji.2_Intron 0 TTCTCTGGGCGTATCTGTGTG 0.388 20 48 --- --- --- --- PASS TSPAN17 26262 broad.mit.edu 37 5 176084646 176084646 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr5:176084646G>T uc003met.2 + 9 1175 c.946G>T c.(946-948)GTT>TTT p.V316F TSPAN17_uc003mes.3_3'UTR|TSPAN17_uc003meu.2_Missense_Mutation_p.V313F|TSPAN17_uc003mev.2_3'UTR|TSPAN17_uc003mew.2_3'UTR NM_012171 NP_036303 Q96FV3 TSN17_HUMAN transmembrane 4 superfamily member 17 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment integral to membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity 0 all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) cagccgacatgttttctttgg 0.169 13 46 --- --- --- --- PASS GFPT2 9945 broad.mit.edu 37 5 179740888 179740888 + Silent SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr5:179740888G>A uc003mlw.1 - 14 1448 c.1350C>T c.(1348-1350)ACC>ACT p.T450T NM_005110 NP_005101 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 450 SIS 1. dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding ovary(1)|skin(1) 2 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) AGCTGCCCACGGTGTTGGTGA 0.701 3 23 --- --- --- --- PASS PHACTR1 221692 broad.mit.edu 37 6 12749917 12749917 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr6:12749917G>T uc010jpc.2 + 4 477 c.145G>T c.(145-147)GCA>TCA p.A49S PHACTR1_uc011dir.1_Missense_Mutation_p.A49S|PHACTR1_uc003nag.1_Missense_Mutation_p.A49S|PHACTR1_uc003nah.1_Missense_Mutation_p.A49S|PHACTR1_uc003nai.2_Missense_Mutation_p.A49S NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 49 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity 0 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) ATTAATGGCGGCATCCTCGGA 0.458 12 17 --- --- --- --- PASS MYLIP 29116 broad.mit.edu 37 6 16144053 16144053 + Silent SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr6:16144053C>T uc003nbq.2 + 5 1023 c.786C>T c.(784-786)AGC>AGT p.S262S MYLIP_uc003nbr.2_Silent_p.S81S NM_013262 NP_037394 Q8WY64 MYLIP_HUMAN myosin regulatory light chain interacting 262 FERM. SG -> TR (in Ref. 3; AAF87323). cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding pancreas(1) 1 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) GGGCGGCCAGCGGGCTCTACC 0.522 8 310 --- --- --- --- PASS USP49 25862 broad.mit.edu 37 6 41773584 41773584 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr6:41773584C>A uc003ori.2 - 4 1360 c.1138G>T c.(1138-1140)GCC>TCC p.A380S NM_018561 NP_061031 Q70CQ1 UBP49_HUMAN ubiquitin thioesterase 49 380 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGGAGCATGGCGAAGGGCGAC 0.597 14 108 --- --- --- --- PASS ABCC10 89845 broad.mit.edu 37 6 43410728 43410728 + Silent SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr6:43410728C>T uc003ouy.1 + 10 2462 c.2247C>T c.(2245-2247)CTC>CTT p.L749L ABCC10_uc003ouz.1_Silent_p.L721L|ABCC10_uc010jyo.1_5'UTR NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 749 ABC transporter 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TCTATCTCCTCGATGACCCTC 0.582 10 130 --- --- --- --- PASS PGK2 5232 broad.mit.edu 37 6 49754769 49754769 + Silent SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr6:49754769G>A uc003ozu.2 - 1 239 c.132C>T c.(130-132)ATC>ATT p.I44I NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 44 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) TGATGCTTGGGATGGAAGCCT 0.463 62 165 --- --- --- --- PASS EEF1A1 1915 broad.mit.edu 37 6 74229735 74229735 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr6:74229735C>G uc003phi.2 - 1 52 c.15G>C c.(13-15)AAG>AAC p.K5N EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Missense_Mutation_p.K5N|EEF1A1_uc003phf.2_Missense_Mutation_p.K5N|EEF1A1_uc003phg.2_Missense_Mutation_p.K5N|EEF1A1_uc003phh.2_5'UTR|EEF1A1_uc003phj.2_Missense_Mutation_p.K5N|EEF1A1_uc003phk.2_Missense_Mutation_p.K5N|EEF1A1_uc003phl.2_Missense_Mutation_p.K5N|EEF1A1_uc003phm.1_RNA NM_001402 NP_001393 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 5 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 TGATATGAGTCTTTTCCTTTC 0.433 52 139 --- --- --- --- PASS MYO6 4646 broad.mit.edu 37 6 76550324 76550324 + Silent SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr6:76550324T>C uc003pih.1 + 8 855 c.576T>C c.(574-576)TTT>TTC p.F192F MYO6_uc003pig.1_Silent_p.F192F|MYO6_uc003pii.1_Silent_p.F192F NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 192 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) TAGAAGCCTTTGGAAATGCGA 0.343 39 150 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90377791 90377791 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr6:90377791C>G uc003pnn.1 - 84 14152 c.14036G>C c.(14035-14037)GGA>GCA p.G4679A NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 4679 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTCTCCAATTCCACCTCCCTC 0.433 28 300 --- --- --- --- PASS SFRS18 25957 broad.mit.edu 37 6 99852551 99852551 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr6:99852551C>G uc003ppo.3 - 9 1258 c.1030G>C c.(1030-1032)GAA>CAA p.E344Q SFRS18_uc003ppp.3_Missense_Mutation_p.E344Q|SFRS18_uc011eag.1_Missense_Mutation_p.E344Q NM_032870 NP_116259 Q8TF01 PNISR_HUMAN splicing factor, arginine/serine-rich 130 344 nuclear speck 0 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0631) AGCAGAATTTCTGTTAGAAGC 0.318 18 107 --- --- --- --- PASS SIM1 6492 broad.mit.edu 37 6 100895250 100895250 + Missense_Mutation SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr6:100895250G>C uc003pqj.3 - 8 1099 c.892C>G c.(892-894)CTG>GTG p.L298V SIM1_uc010kcu.2_Missense_Mutation_p.L298V NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 298 PAC. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TGTTTCGCCAGGAACCTGTAG 0.592 7 64 --- --- --- --- PASS CDK19 23097 broad.mit.edu 37 6 111067360 111067360 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr6:111067360C>G uc003puh.1 - 2 246 c.173G>C c.(172-174)GGA>GCA p.G58A CDK19_uc003pui.1_5'UTR NM_015076 NP_055891 Q9BWU1 CDK19_HUMAN cell division cycle 2-like 6 (CDK8-like) 58 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 CATGGATATTCCTGTGCCTTC 0.279 5 192 --- --- --- --- PASS C6orf58 352999 broad.mit.edu 37 6 127898557 127898557 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr6:127898557C>A uc003qbh.2 + 1 239 c.227C>A c.(226-228)GCA>GAA p.A76E NM_001010905 NP_001010905 Q6P5S2 CF058_HUMAN hypothetical protein LOC352999 precursor 76 extracellular region 0 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) AGGTATTTTGCAAAATTTGCA 0.388 22 326 --- --- --- --- PASS TMEM181 57583 broad.mit.edu 37 6 159046773 159046773 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr6:159046773G>T uc003qrm.3 + 13 1518 c.1507G>T c.(1507-1509)GTA>TTA p.V503L TMEM181_uc010kjr.1_Missense_Mutation_p.V334L NM_020823 NP_065874 Q9P2C4 TM181_HUMAN G protein-coupled receptor 178 503 Helical; (Potential). pathogenesis integral to membrane toxin binding ovary(2)|central_nervous_system(1) 3 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) GACTTTCGTAGTACTTGTCAT 0.338 11 58 --- --- --- --- PASS T 6862 broad.mit.edu 37 6 166574401 166574401 + Missense_Mutation SNP A C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr6:166574401A>C uc003quu.1 - 8 1451 c.958T>G c.(958-960)TGG>GGG p.W320G T_uc003qut.1_Missense_Mutation_p.W321G|T_uc003quv.1_Missense_Mutation_p.W262G NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 320 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) AGGCTGGACCAATTGTCATGG 0.517 Chordoma_Familial_Clustering_of 7 163 --- --- --- --- PASS TNRC18 84629 broad.mit.edu 37 7 5352353 5352353 + Silent SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr7:5352353C>T uc003soi.3 - 27 8518 c.8169G>A c.(8167-8169)GCG>GCA p.A2723A NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 2723 DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GGGGCTGGGGCGCGGGCGTCT 0.746 9 25 --- --- --- --- PASS NXPH1 30010 broad.mit.edu 37 7 8790697 8790697 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr7:8790697C>A uc003srv.2 + 3 1025 c.114C>A c.(112-114)AGC>AGA p.S38R NXPH1_uc011jxh.1_5'UTR NM_152745 NP_689958 P58417 NXPH1_HUMAN neurexophilin 1 precursor 38 II. extracellular region ovary(1)|central_nervous_system(1) 2 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) CAGGAAGCAGCAAATCCACAC 0.418 46 164 --- --- --- --- PASS TWISTNB 221830 broad.mit.edu 37 7 19738155 19738155 + Silent SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr7:19738155C>G uc003sup.1 - 4 822 c.801G>C c.(799-801)GCG>GCC p.A267A NM_001002926 NP_001002926 Q3B726 RPA43_HUMAN TWIST neighbor 267 Lys-rich. microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity ovary(1) 1 AGATGCCATTCGCATTATTAG 0.478 171 757 --- --- --- --- PASS ABCB5 340273 broad.mit.edu 37 7 20725340 20725340 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr7:20725340C>A uc003suw.3 + 7 1102 c.556C>A c.(556-558)CAG>AAG p.Q186K ABCB5_uc010kuh.2_Missense_Mutation_p.Q631K NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 186 Extracellular (Potential). regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 AGCTGATGAACAGATGGAGTC 0.348 3 72 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21604007 21604007 + Missense_Mutation SNP A C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr7:21604007A>C uc003svc.2 + 6 1217 c.1186A>C c.(1186-1188)ATT>CTT p.I396L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 396 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TAATCTCTTCATTAACCAGGT 0.353 Kartagener_syndrome 25 60 --- --- --- --- PASS AVL9 23080 broad.mit.edu 37 7 32584372 32584372 + Missense_Mutation SNP A G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr7:32584372A>G uc003tcv.1 + 3 427 c.281A>G c.(280-282)TAT>TGT p.Y94C AVL9_uc011kai.1_Missense_Mutation_p.Y94C|AVL9_uc010kwj.1_5'UTR NM_015060 NP_055875 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 94 integral to membrane 0 ATCTCTTGCTATCGACAAATT 0.353 31 49 --- --- --- --- PASS BAZ1B 9031 broad.mit.edu 37 7 72891486 72891486 + Silent SNP T G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr7:72891486T>G uc003tyc.2 - 7 2650 c.2305A>C c.(2305-2307)AGA>CGA p.R769R NM_032408 NP_115784 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 769 Potential. ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 7 Lung NSC(55;0.0659)|all_lung(88;0.152) ATCTGCTGTCTGGTCTCCATG 0.368 16 174 --- --- --- --- PASS PTPRZ1 5803 broad.mit.edu 37 7 121653467 121653467 + Missense_Mutation SNP T A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr7:121653467T>A uc003vjy.2 + 12 4762 c.4367T>A c.(4366-4368)ATG>AAG p.M1456K PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1456 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 GAAAAGGTAATGAATGATTCA 0.323 54 95 --- --- --- --- PASS AASS 10157 broad.mit.edu 37 7 121718032 121718032 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr7:121718032C>T uc003vka.2 - 22 2618 c.2522G>A c.(2521-2523)AGC>AAC p.S841N AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.S841N|AASS_uc011knw.1_Missense_Mutation_p.S329N NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 841 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) GATTCCAAAGCTGTCTCTCAT 0.358 216 579 --- --- --- --- PASS SPAM1 6677 broad.mit.edu 37 7 123599691 123599691 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr7:123599691C>T uc003vld.2 + 6 1600 c.1198C>T c.(1198-1200)CTC>TTC p.L400F SPAM1_uc003vle.2_Missense_Mutation_p.L400F|SPAM1_uc011koa.1_Missense_Mutation_p.L56F|SPAM1_uc003vlf.3_Missense_Mutation_p.L400F|SPAM1_uc010lku.2_Missense_Mutation_p.L400F NM_153189 NP_694859 P38567 HYALP_HUMAN sperm adhesion molecule 1 isoform 2 400 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity ovary(3)|kidney(1) 4 Hyaluronidase(DB00070) CTATCTTCACCTCAACCCAGA 0.408 48 124 --- --- --- --- PASS GRM8 2918 broad.mit.edu 37 7 126544719 126544719 + Missense_Mutation SNP T A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr7:126544719T>A uc003vlr.2 - 3 1057 c.746A>T c.(745-747)CAG>CTG p.Q249L GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.Q249L|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_5'UTR NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 249 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) TTTCTGTGACTGAGCAATGCA 0.378 HNSCC(24;0.065) 47 169 --- --- --- --- PASS CHRM2 1129 broad.mit.edu 37 7 136700371 136700371 + Missense_Mutation SNP T A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr7:136700371T>A uc003vtf.1 + 4 1382 c.759T>A c.(757-759)GAT>GAA p.D253E CHRM2_uc003vtg.1_Missense_Mutation_p.D253E|CHRM2_uc003vtj.1_Missense_Mutation_p.D253E|CHRM2_uc003vtk.1_Missense_Mutation_p.D253E|CHRM2_uc003vtl.1_Missense_Mutation_p.D253E|CHRM2_uc003vtm.1_Missense_Mutation_p.D253E|CHRM2_uc003vti.1_Missense_Mutation_p.D253E|CHRM2_uc003vto.1_Missense_Mutation_p.D253E|CHRM2_uc003vtn.1_Missense_Mutation_p.D253E|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 253 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) GCAGTGACGATGGCCTGGAGC 0.507 21 62 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 2824228 2824228 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr8:2824228C>T uc011kwk.1 - 58 9357 c.8967G>A c.(8965-8967)ATG>ATA p.M2989I CSMD1_uc011kwj.1_Missense_Mutation_p.M2318I|CSMD1_uc010lrg.2_Intron NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2989 Extracellular (Potential).|Sushi 23. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TACTGACAATCATTCCGTTGG 0.532 5 25 --- --- --- --- PASS CYP7A1 1581 broad.mit.edu 37 8 59409687 59409687 + Silent SNP A T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr8:59409687A>T uc003xtm.3 - 3 447 c.384T>A c.(382-384)ACT>ACA p.T128T NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 128 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) TTTTGATGAAAGTGTCGTTTA 0.433 Neonatal_Giant_Cell_Hepatitis 45 159 --- --- --- --- PASS YTHDF3 253943 broad.mit.edu 37 8 64100053 64100053 + Missense_Mutation SNP A G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr8:64100053A>G uc003xuy.2 + 5 1800 c.1484A>G c.(1483-1485)GAT>GGT p.D495G YTHDF3_uc010lys.2_Missense_Mutation_p.D439G|YTHDF3_uc003xuz.2_Missense_Mutation_p.D439G|YTHDF3_uc003xva.2_Missense_Mutation_p.D439G|YTHDF3_uc011len.1_Missense_Mutation_p.D439G NM_152758 NP_689971 Q7Z739 YTHD3_HUMAN YTH domain family, member 3 495 YTH. 0 Breast(64;0.0716) all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146) BRCA - Breast invasive adenocarcinoma(89;0.161) TGGTCTCAGGATAAGTGGAAG 0.393 3 89 --- --- --- --- PASS NCOA2 10499 broad.mit.edu 37 8 71044152 71044152 + Nonsense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr8:71044152G>A uc003xyn.1 - 16 3406 c.3244C>T c.(3244-3246)CAG>TAG p.Q1082* NCOA2_uc011lfb.1_Nonsense_Mutation_p.Q170* NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 1082 LLXXLXXXL motif. LLDQL->AADQA: Reduces transcriptional coactivation and disrupts interaction with CREBBP/CBP.|DQ->AA: Has little effect on transcriptional coactivation. cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AGATACAGCTGGTCCAGGAGA 0.532 T RUNXBP2 AML 11 17 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77768505 77768505 + Silent SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr8:77768505C>A uc003yav.2 + 10 9600 c.9213C>A c.(9211-9213)TCC>TCA p.S3071S ZFHX4_uc003yau.1_Silent_p.S3116S|ZFHX4_uc003yaw.1_Silent_p.S3071S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3071 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACGGTCCATCCTCCTTGCCGG 0.502 HNSCC(33;0.089) 9 87 --- --- --- --- PASS ANKRD46 157567 broad.mit.edu 37 8 101534833 101534833 + Splice_Site SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr8:101534833C>T uc003yjm.2 - 5 840 c.636_splice c.e5+1 p.Y212_splice ANKRD46_uc003yjn.1_Missense_Mutation_p.V213M|ANKRD46_uc003yjo.1_Missense_Mutation_p.V213M|ANKRD46_uc003yjp.1_Missense_Mutation_p.V213M NM_198401 NP_940683 Q86W74 ANR46_HUMAN ankyrin repeat domain 46 integral to membrane 0 all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998) Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957) ACCCCACTCACATAATAAGCA 0.488 14 96 --- --- --- --- PASS FER1L6 654463 broad.mit.edu 37 8 125035716 125035716 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr8:125035716G>T uc003yqw.2 + 18 2372 c.2166G>T c.(2164-2166)TGG>TGT p.W722C uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 722 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TTTTCATCTGGATGCTCAGCA 0.532 80 193 --- --- --- --- PASS FER1L6 654463 broad.mit.edu 37 8 125058096 125058096 + Missense_Mutation SNP A C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr8:125058096A>C uc003yqw.2 + 21 2884 c.2678A>C c.(2677-2679)GAG>GCG p.E893A NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 893 Cytoplasmic (Potential).|C2 3. integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GAGCTGGCAGAGTCCCCGCCC 0.562 113 318 --- --- --- --- PASS KCNK9 51305 broad.mit.edu 37 8 140630900 140630900 + Silent SNP G A A rs113907649 TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr8:140630900G>A uc003yvf.1 - 2 790 c.726C>T c.(724-726)GTC>GTT p.V242V KCNK9_uc003yvg.1_Silent_p.V242V|KCNK9_uc003yve.1_RNA NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 242 Cytoplasmic (Potential). integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) ACCTGAGGACGACCAGGTTGA 0.572 21 72 --- --- --- --- PASS SCRIB 23513 broad.mit.edu 37 8 144893462 144893462 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr8:144893462G>T uc003yzp.1 - 10 967 c.960C>A c.(958-960)GAC>GAA p.D320E SCRIB_uc003yzo.1_Missense_Mutation_p.D320E NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 320 LRR 13.|Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GGTGGTTCCGGTCCACGTTGA 0.667 6 40 --- --- --- --- PASS WASH5P 375690 broad.mit.edu 37 9 17150 17150 + Missense_Mutation SNP A T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr9:17150A>T uc010mgm.1 - 7 841 c.698T>A c.(697-699)TTC>TAC p.F233Y WASH5P_uc003zfr.2_RNA|WASH5P_uc011llq.1_RNA|WASH5P_uc003zfu.1_Missense_Mutation_p.F246Y NM_182905 NP_878908 WAS protein family homolog 1 0 TGGCACATAGAAGTAGTTCTC 0.582 4 70 --- --- --- --- PASS MPDZ 8777 broad.mit.edu 37 9 13110012 13110012 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr9:13110012C>A uc010mhy.2 - 43 5845 c.5794G>T c.(5794-5796)GCA>TCA p.A1932S MPDZ_uc003zkx.3_Missense_Mutation_p.A156S|MPDZ_uc003zky.3_Missense_Mutation_p.A495S|MPDZ_uc010mib.2_Missense_Mutation_p.A666S|MPDZ_uc010mhx.2_Missense_Mutation_p.A783S|MPDZ_uc011lmm.1_Missense_Mutation_p.A820S|MPDZ_uc003zkz.3_Missense_Mutation_p.A654S|MPDZ_uc010mhz.2_Missense_Mutation_p.A1928S|MPDZ_uc011lmn.1_Missense_Mutation_p.A1899S|MPDZ_uc003zlb.3_Missense_Mutation_p.A1932S NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1961 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) CTGGAACTTGCAGGCTCCTGC 0.458 12 22 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21974792 21974792 + Nonsense_Mutation SNP G T T rs141798398 TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr9:21974792G>T uc003zpk.2 - 1 247 c.35C>A c.(34-36)TCG>TAG p.S12* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Nonsense_Mutation_p.S12*|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 12 ANK 1. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(23)|p.S12*(3)|p.S12fs*6(1)|p.S12fs*14(1)|p.S7_A19del(1)|p.M9_A20>X(1)|p.P11_S12insAAGSSMEP(1)|p.S12fs*20(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCAGTCAGCCGAAGGCTCCAT 0.761 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 3 7 --- --- --- --- PASS TOPORS 10210 broad.mit.edu 37 9 32541551 32541551 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr9:32541551G>A uc003zrb.2 - 3 3139 c.2972C>T c.(2971-2973)TCA>TTA p.S991L TOPORS_uc003zrc.2_Missense_Mutation_p.S924L NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 991 DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) TTGTTCAACTGAAGCTGCCAG 0.413 10 281 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32631934 32631934 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr9:32631934C>T uc003zrg.1 - 1 3734 c.3644G>A c.(3643-3645)CGC>CAC p.R1215H uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1215 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AGTCCGTATGCGCACATAGGC 0.433 22 227 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32632145 32632145 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr9:32632145G>A uc003zrg.1 - 1 3523 c.3433C>T c.(3433-3435)CGG>TGG p.R1145W uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1145 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AGTTCCTTCCGCTCCTGCTCC 0.468 40 89 --- --- --- --- PASS PTPN3 5774 broad.mit.edu 37 9 112151660 112151660 + Splice_Site SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr9:112151660C>T uc004bed.2 - 22 2219 c.2107_splice c.e22-1 p.M703_splice PTPN3_uc004beb.2_Splice_Site_p.M572_splice|PTPN3_uc004bec.2_Splice_Site_p.M527_splice|PTPN3_uc010mtu.2_Splice_Site|PTPN3_uc011lwg.1_Splice_Site_p.M658_splice|PTPN3_uc011lwh.1_Splice_Site_p.M549_splice|PTPN3_uc011lwd.1_Splice_Site_p.M171_splice|PTPN3_uc011lwe.1_Splice_Site_p.M416_splice|PTPN3_uc011lwf.1_Splice_Site_p.M371_splice NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 GAATTTCCATCTGGTAAGAAA 0.463 3 86 --- --- --- --- PASS KCNT1 57582 broad.mit.edu 37 9 138669264 138669264 + Silent SNP C A A rs139114208 byFrequency TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr9:138669264C>A uc011mdq.1 + 21 2504 c.2430C>A c.(2428-2430)GCC>GCA p.A810A KCNT1_uc011mdr.1_Silent_p.A637A|KCNT1_uc010nbf.2_Silent_p.A765A|KCNT1_uc004cgo.1_Silent_p.A559A NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 810 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CAGAGACGGCCGGCAATGGGC 0.557 28 80 --- --- --- --- PASS LARP4B 23185 broad.mit.edu 37 10 890987 890987 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr10:890987C>T uc001ifs.1 - 5 480 c.439G>A c.(439-441)GAG>AAG p.E147K NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 147 nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 GGTTGAGACTCATTTCCTCCT 0.388 36 86 --- --- --- --- PASS ITIH5 80760 broad.mit.edu 37 10 7618578 7618578 + Missense_Mutation SNP G T T rs75233092 TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr10:7618578G>T uc001ijq.2 - 10 1895 c.1816C>A c.(1816-1818)CAG>AAG p.Q606K ITIH5_uc001ijp.2_Missense_Mutation_p.Q392K|ITIH5_uc001ijr.1_Missense_Mutation_p.Q606K NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 606 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 GCCAGGGCCTGGGCCCGCTGC 0.647 13 34 --- --- --- --- PASS STAM 8027 broad.mit.edu 37 10 17742236 17742236 + Silent SNP A T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr10:17742236A>T uc001ipj.1 + 9 1086 c.870A>T c.(868-870)GTA>GTT p.V290V STAM_uc010qcf.1_Silent_p.V179V|STAM_uc009xjw.1_5'UTR NM_003473 NP_003464 Q92783 STAM1_HUMAN signal transducing adaptor molecule 1 290 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity large_intestine(1)|ovary(1) 2 ATGTTCAGGTAGAGACAATAG 0.313 12 114 --- --- --- --- PASS ANKRD26 22852 broad.mit.edu 37 10 27382400 27382400 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr10:27382400C>T uc001ith.2 - 3 581 c.409G>A c.(409-411)GCT>ACT p.A137T ANKRD26_uc009xku.1_Missense_Mutation_p.A137T NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 137 ANK 3. centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 TTTGGATCAGCACCATGTTCT 0.413 12 107 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37421200 37421200 + Silent SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr10:37421200G>C uc001iza.1 + 4 474 c.375G>C c.(373-375)ACG>ACC p.T125T NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 181 ANK 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 TATCCATAACGAAAAGAAGTG 0.284 17 94 --- --- --- --- PASS HNRNPF 3185 broad.mit.edu 37 10 43882414 43882414 + Missense_Mutation SNP T A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr10:43882414T>A uc009xmh.1 - 3 1406 c.919A>T c.(919-921)AAC>TAC p.N307Y HNRNPF_uc001jar.2_Missense_Mutation_p.N307Y|HNRNPF_uc001jas.2_Missense_Mutation_p.N307Y|HNRNPF_uc001jat.2_Missense_Mutation_p.N307Y|HNRNPF_uc001jav.2_Missense_Mutation_p.N307Y|HNRNPF_uc001jau.2_Missense_Mutation_p.N307Y|uc010qfa.1_Silent_p.V32V NM_001098208 NP_001091678 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 307 RRM 3. regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding 0 GAGAAGAAGTTGTAAATGTCG 0.517 13 113 --- --- --- --- PASS HNRNPF 3185 broad.mit.edu 37 10 43882837 43882837 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr10:43882837C>G uc009xmh.1 - 3 983 c.496G>C c.(496-498)GAG>CAG p.E166Q HNRNPF_uc001jar.2_Missense_Mutation_p.E166Q|HNRNPF_uc001jas.2_Missense_Mutation_p.E166Q|HNRNPF_uc001jat.2_Missense_Mutation_p.E166Q|HNRNPF_uc001jav.2_Missense_Mutation_p.E166Q|HNRNPF_uc001jau.2_Missense_Mutation_p.E166Q|uc010qfa.1_3'UTR NM_001098208 NP_001091678 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 166 RRM 2. regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding 0 AGAGCCTTCTCAGCTAACTCC 0.522 19 139 --- --- --- --- PASS RBP3 5949 broad.mit.edu 37 10 48390698 48390698 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr10:48390698C>A uc001jez.2 - 1 294 c.180G>T c.(178-180)GAG>GAT p.E60D NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 60 4 X approximate tandem repeats.|1. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) TGCTCAGAATCTCATGGCTCT 0.592 29 116 --- --- --- --- PASS AGAP7 653268 broad.mit.edu 37 10 51465318 51465318 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr10:51465318G>T uc001jio.2 - 7 1264 c.1138C>A c.(1138-1140)CTA>ATA p.L380I PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron NM_001077685 NP_001071153 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 380 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 TTCTTCTTTAGGTGTTTCTTT 0.527 48 142 --- --- --- --- PASS A1CF 29974 broad.mit.edu 37 10 52573658 52573658 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr10:52573658G>A uc001jjj.2 - 10 1494 c.1306C>T c.(1306-1308)CCT>TCT p.P436S A1CF_uc010qhn.1_Missense_Mutation_p.P436S|A1CF_uc001jji.2_Missense_Mutation_p.P428S|A1CF_uc001jjh.2_Missense_Mutation_p.P436S|A1CF_uc010qho.1_Missense_Mutation_p.P444S|A1CF_uc009xov.2_Missense_Mutation_p.P428S NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 436 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 AATGTGACAGGATTCATTGGG 0.438 56 182 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 67829247 67829247 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr10:67829247C>A uc009xpn.1 - 15 2101 c.1978G>T c.(1978-1980)GCT>TCT p.A660S CTNNA3_uc001jmw.2_Missense_Mutation_p.A660S NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 660 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 GTCATCTTAGCCTAAAACATG 0.328 22 175 --- --- --- --- PASS MYPN 84665 broad.mit.edu 37 10 69935179 69935179 + Silent SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr10:69935179G>A uc001jnm.3 + 13 2849 c.2664G>A c.(2662-2664)GGG>GGA p.G888G MYPN_uc001jnn.3_Silent_p.G613G|MYPN_uc001jno.3_Silent_p.G888G|MYPN_uc009xpt.2_Silent_p.G888G|MYPN_uc010qit.1_Silent_p.G594G|MYPN_uc010qiu.1_Intron NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 888 nucleus|sarcomere actin binding ovary(3)|skin(2) 5 GAGACTTGGGGAAAAAAATAA 0.363 16 124 --- --- --- --- PASS OIT3 170392 broad.mit.edu 37 10 74684331 74684331 + Silent SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr10:74684331G>A uc001jte.1 + 7 1514 c.1296G>A c.(1294-1296)TTG>TTA p.L432L OIT3_uc009xqs.1_Intron NM_152635 NP_689848 Q8WWZ8 OIT3_HUMAN oncoprotein-induced transcript 3 precursor 432 ZP. nuclear envelope calcium ion binding ovary(2) 2 Prostate(51;0.0198) TGGAAAGCTTGGTGGAGAGCT 0.557 11 90 --- --- --- --- PASS SEC24C 9632 broad.mit.edu 37 10 75520505 75520505 + Missense_Mutation SNP T A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr10:75520505T>A uc001juw.2 + 7 1064 c.885T>A c.(883-885)AAT>AAA p.N295K SEC24C_uc010qkn.1_RNA|SEC24C_uc009xrj.1_Missense_Mutation_p.N153K|SEC24C_uc001jux.2_Missense_Mutation_p.N295K|SEC24C_uc010qko.1_Missense_Mutation_p.N153K|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron NM_004922 NP_004913 P53992 SC24C_HUMAN SEC24-related protein C 295 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding skin(2)|central_nervous_system(1) 3 Prostate(51;0.0112) CTCAGTCTAATTATGGAGGCC 0.582 22 161 --- --- --- --- PASS GLUD1 2746 broad.mit.edu 37 10 88834324 88834324 + Silent SNP T G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr10:88834324T>G uc001keh.2 - 4 727 c.630A>C c.(628-630)GCA>GCC p.A210A GLUD1_uc001keg.2_Silent_p.A43A|GLUD1_uc010qmp.1_Silent_p.A77A NM_005271 NP_005262 P00367 DHE3_HUMAN glutamate dehydrogenase 1 precursor 210 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding 0 L-Glutamic Acid(DB00142)|NADH(DB00157) AGCCCTTTTTTGCTAGCTCCA 0.239 5 236 --- --- --- --- PASS LGI1 9211 broad.mit.edu 37 10 95518036 95518036 + Silent SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr10:95518036G>A uc001kjc.3 + 1 471 c.135G>A c.(133-135)GTG>GTA p.V45V LGI1_uc010qnv.1_Silent_p.V45V|LGI1_uc001kjd.3_Silent_p.V45V|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_RNA NM_005097 NP_005088 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 precursor 45 LRRNT. axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 Colorectal(252;0.124) GCCCTGCCGTGTGTACTTGTA 0.453 16 183 --- --- --- --- PASS PDCD11 22984 broad.mit.edu 37 10 105162882 105162882 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr10:105162882G>T uc001kwy.1 + 4 329 c.242G>T c.(241-243)TGT>TTT p.C81F NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 81 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TAGTCCCTGTGTGAGGGAATG 0.443 84 289 --- --- --- --- PASS LRRC27 80313 broad.mit.edu 37 10 134188614 134188614 + Missense_Mutation SNP A C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr10:134188614A>C uc010quw.1 + 11 1656 c.1461A>C c.(1459-1461)TTA>TTC p.L487F LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Missense_Mutation_p.L487F|LRRC27_uc001llj.2_Missense_Mutation_p.L425F NM_030626 NP_085129 Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 isoform a 487 ovary(1) 1 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) AATTGGGATTAACCTTGAACA 0.488 8 84 --- --- --- --- PASS KNDC1 85442 broad.mit.edu 37 10 135011179 135011179 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr10:135011179G>T uc001llz.1 + 12 1814 c.1813G>T c.(1813-1815)GTG>TTG p.V605L KNDC1_uc001lma.1_Missense_Mutation_p.V540L|KNDC1_uc001lmb.1_Missense_Mutation_p.V17L NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 605 KIND 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TCCTCCCCAGGTGTACCAGGA 0.677 27 155 --- --- --- --- PASS TH 7054 broad.mit.edu 37 11 2185535 2185535 + Silent SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr11:2185535G>T uc001lvq.2 - 14 1534 c.1515C>A c.(1513-1515)GCC>GCA p.A505A TH_uc001lvp.2_Silent_p.A501A|TH_uc001lvr.2_Silent_p.A474A|TH_uc010qxj.1_Silent_p.A478A|TH_uc001lvs.2_Silent_p.A380A|TH_uc001lvt.2_Silent_p.A384A NM_199292 NP_954986 P07101 TY3H_HUMAN tyrosine hydroxylase isoform a 505 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity 0 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) AGCGCCGCACGGCCTGGGGGC 0.672 15 38 --- --- --- --- PASS OR52A5 390054 broad.mit.edu 37 11 5153746 5153746 + Nonsense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr11:5153746C>A uc010qyx.1 - 1 127 c.127G>T c.(127-129)GGA>TGA p.G43* NM_001005160 NP_001005160 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G43E(1) skin(2)|lung(1)|central_nervous_system(1) 4 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AGGGAATTTCCAATCACACCA 0.403 30 121 --- --- --- --- PASS PIK3C2A 5286 broad.mit.edu 37 11 17132046 17132046 + Missense_Mutation SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr11:17132046G>C uc001mmq.3 - 21 3543 c.3477C>G c.(3475-3477)ATC>ATG p.I1159M PIK3C2A_uc009ygu.1_Translation_Start_Site|PIK3C2A_uc010rcw.1_Missense_Mutation_p.I779M|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 1159 PI3K/PI4K. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) CTTTAAGCCAGATCTTATCCA 0.358 17 176 --- --- --- --- PASS MRGPRX1 259249 broad.mit.edu 37 11 18956325 18956325 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr11:18956325G>T uc001mpg.2 - 1 225 c.7C>A c.(7-9)CCA>ACA p.P3T NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 3 Extracellular (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 GAGATGGTTGGATCCATGCTC 0.413 101 501 --- --- --- --- PASS SLC17A6 57084 broad.mit.edu 37 11 22363311 22363311 + Silent SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr11:22363311C>G uc001mqk.2 + 2 737 c.324C>G c.(322-324)GGC>GGG p.G108G NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 108 Vesicular (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 ACCGCGGGGGCAAGGTCATCA 0.632 12 69 --- --- --- --- PASS C11orf41 25758 broad.mit.edu 37 11 33682446 33682446 + Silent SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr11:33682446C>A uc001mup.3 + 19 5296 c.5172C>A c.(5170-5172)GCC>GCA p.A1724A NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 1718 integral to membrane ovary(2) 2 TCCCAGCTGCCAACAGACCTG 0.582 12 36 --- --- --- --- PASS CD44 960 broad.mit.edu 37 11 35227749 35227749 + Nonsense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr11:35227749C>G uc001mvu.2 + 11 1807 c.1373C>G c.(1372-1374)TCA>TGA p.S458* CD44_uc001mvv.2_Nonsense_Mutation_p.S415*|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Nonsense_Mutation_p.S22*|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Intron NM_000610 NP_000601 P16070 CD44_HUMAN CD44 antigen isoform 1 precursor 458 Extracellular (Potential).|Stem. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity pancreas(1) 1 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) AACCCAATCTCACACCCCATG 0.468 4 260 --- --- --- --- PASS SYT13 57586 broad.mit.edu 37 11 45268004 45268004 + Silent SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr11:45268004G>A uc001myq.2 - 5 1032 c.906C>T c.(904-906)AAC>AAT p.N302N SYT13_uc009yku.1_Silent_p.N158N NM_020826 NP_065877 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 302 C2 2.|Cytoplasmic (Potential). transport vesicle ovary(1) 1 CCAGGAGGCGGTTGGCAGCCG 0.572 31 89 --- --- --- --- PASS CHST1 8534 broad.mit.edu 37 11 45671891 45671891 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr11:45671891C>T uc001mys.1 - 4 1254 c.583G>A c.(583-585)GAG>AAG p.E195K NM_003654 NP_003645 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) 195 Lumenal (Potential). galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity skin(4)|pancreas(1) 5 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) CGGCACGCCTCGGCCGCCACG 0.697 10 57 --- --- --- --- PASS FOLH1 2346 broad.mit.edu 37 11 49175955 49175955 + Silent SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr11:49175955T>C uc001ngy.2 - 16 1974 c.1713A>G c.(1711-1713)AAA>AAG p.K571K FOLH1_uc001ngx.2_Silent_p.K3K|FOLH1_uc001ngz.2_Silent_p.K571K|FOLH1_uc009yly.2_Silent_p.K556K|FOLH1_uc009ylz.2_Silent_p.K556K|FOLH1_uc009yma.2_Silent_p.K263K NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 571 NAALADase.|Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) TGAGGTGATATTTAAACATTG 0.398 4 134 --- --- --- --- PASS OR4C46 119749 broad.mit.edu 37 11 51515878 51515878 + Silent SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr11:51515878C>G uc010ric.1 + 1 597 c.597C>G c.(595-597)GCC>GCG p.A199A NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 199 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TCATTGCTGCCAACAGTGGAT 0.483 28 187 --- --- --- --- PASS OR4P4 81300 broad.mit.edu 37 11 55406513 55406513 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr11:55406513C>T uc010rij.1 + 1 680 c.680C>T c.(679-681)TCT>TTT p.S227F NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 AGAGCATACTCTGCAGAGAGA 0.393 47 170 --- --- --- --- PASS OR5A1 219982 broad.mit.edu 37 11 59210840 59210840 + Missense_Mutation SNP A C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr11:59210840A>C uc001nnx.1 + 1 199 c.199A>C c.(199-201)AGC>CGC p.S67R NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 67 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 CTTCTTCCTAAGCAACTTATC 0.488 34 320 --- --- --- --- PASS RAB3IL1 5866 broad.mit.edu 37 11 61672049 61672049 + Missense_Mutation SNP T G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr11:61672049T>G uc001nso.2 - 7 1026 c.868A>C c.(868-870)AAG>CAG p.K290Q RAB3IL1_uc001nsp.2_Missense_Mutation_p.K264Q NM_013401 NP_037533 Q8TBN0 R3GEF_HUMAN RAB3A interacting protein (rabin3)-like 1 290 protein binding skin(2)|central_nervous_system(1) 3 TCGGCCACCTTCACTGTGGGC 0.622 5 26 --- --- --- --- PASS PHOX2A 401 broad.mit.edu 37 11 71952160 71952160 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr11:71952160C>T uc001osh.3 - 2 563 c.391G>A c.(391-393)GAG>AAG p.E131K NM_005169 NP_005160 O14813 PHX2A_HUMAN paired-like homeobox 2a 131 Homeobox. noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 ACGCGAGCCTCAGTGAGGTCG 0.592 11 66 --- --- --- --- PASS GRM5 2915 broad.mit.edu 37 11 88583186 88583186 + Missense_Mutation SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr11:88583186G>C uc001pcq.2 - 2 999 c.799C>G c.(799-801)CAC>GAC p.H267D GRM5_uc009yvm.2_Missense_Mutation_p.H267D NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 267 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) TTGGGCAAGTGACTTGTGAGC 0.542 39 70 --- --- --- --- PASS NOX4 50507 broad.mit.edu 37 11 89135615 89135615 + Missense_Mutation SNP T A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr11:89135615T>A uc001pct.2 - 9 964 c.725A>T c.(724-726)TAT>TTT p.Y242F NOX4_uc009yvr.2_Missense_Mutation_p.Y217F|NOX4_uc001pcu.2_Missense_Mutation_p.Y168F|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.Y242F|NOX4_uc009yvo.2_Intron|NOX4_uc010rtu.1_Missense_Mutation_p.Y76F|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Missense_Mutation_p.Y218F|NOX4_uc009yvq.2_Missense_Mutation_p.Y218F|NOX4_uc009yvs.1_RNA NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 242 Extracellular (Potential).|Ferric oxidoreductase. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) TTCTGAGAAATACTCTGGTAA 0.423 38 258 --- --- --- --- PASS CEP164 22897 broad.mit.edu 37 11 117265653 117265653 + Silent SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr11:117265653T>C uc001prc.2 + 22 2925 c.2778T>C c.(2776-2778)GAT>GAC p.D926D CEP164_uc001prb.2_Silent_p.D929D|CEP164_uc010rxk.1_Silent_p.D900D|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Silent_p.D359D NM_014956 NP_055771 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 926 Glu-rich. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) AGCTCCAGGATTTAGAGTTGG 0.517 58 318 --- --- --- --- PASS FEZ1 9638 broad.mit.edu 37 11 125359634 125359634 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr11:125359634C>T uc001qbx.2 - 2 192 c.40G>A c.(40-42)GAC>AAC p.D14N FEZ1_uc010sbc.1_Missense_Mutation_p.D14N|FEZ1_uc001qby.1_Missense_Mutation_p.D14N NM_005103 NP_005094 Q99689 FEZ1_HUMAN zygin 1 isoform 1 14 axon guidance|cell adhesion|transport microtubule|plasma membrane central_nervous_system(3)|ovary(1) 4 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934) GGTCGAAGGTCCTCAAACTCT 0.532 14 125 --- --- --- --- PASS DCPS 28960 broad.mit.edu 37 11 126208221 126208221 + Missense_Mutation SNP G A A rs140993180 TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr11:126208221G>A uc001qdp.2 + 4 892 c.563G>A c.(562-564)CGG>CAG p.R188Q NM_014026 NP_054745 Q96C86 DCPS_HUMAN mRNA decapping enzyme 188 deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus exoribonuclease activity|protein binding 0 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08) GAAGCGGACCGGATTGTTTTC 0.502 13 81 --- --- --- --- PASS HSN2 378465 broad.mit.edu 37 12 977437 977437 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr12:977437G>T uc001qiq.2 + 1 568 c.442G>T c.(442-444)GCA>TCA p.A148S WNK1_uc001qio.3_Intron|WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron NM_213655 NP_998820 hereditary sensory neuropathy, type II 0 all_cancers(10;0.0107)|all_epithelial(11;0.0151)|Ovarian(42;0.0512)|all_lung(10;0.0521)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.000967)|BRCA - Breast invasive adenocarcinoma(9;0.0178) TCCTCAGGAAGCAGTGTATGT 0.443 20 17 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2797827 2797827 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr12:2797827C>A uc009zdu.1 + 49 6561 c.6248C>A c.(6247-6249)CCC>CAC p.P2083H CACNA1C_uc009zdv.1_Missense_Mutation_p.P1997H|CACNA1C_uc001qkb.2_Missense_Mutation_p.P2000H|CACNA1C_uc001qkc.2_Missense_Mutation_p.P2019H|CACNA1C_uc001qke.2_Missense_Mutation_p.P1989H|CACNA1C_uc001qkf.2_Missense_Mutation_p.P2008H|CACNA1C_uc001qjz.2_Missense_Mutation_p.P2000H|CACNA1C_uc001qkd.2_Missense_Mutation_p.P2019H|CACNA1C_uc001qkg.2_Missense_Mutation_p.P2006H|CACNA1C_uc009zdw.1_Missense_Mutation_p.P2041H|CACNA1C_uc001qkh.2_Missense_Mutation_p.P2008H|CACNA1C_uc001qkl.2_Missense_Mutation_p.P2048H|CACNA1C_uc001qkn.2_Missense_Mutation_p.P2000H|CACNA1C_uc001qko.2_Missense_Mutation_p.P2020H|CACNA1C_uc001qkp.2_Missense_Mutation_p.P2000H|CACNA1C_uc001qkr.2_Missense_Mutation_p.P2017H|CACNA1C_uc001qku.2_Missense_Mutation_p.P2035H|CACNA1C_uc001qkq.2_Missense_Mutation_p.P2028H|CACNA1C_uc001qks.2_Missense_Mutation_p.P2000H|CACNA1C_uc001qkt.2_Missense_Mutation_p.P2019H|CACNA1C_uc001qki.1_Missense_Mutation_p.P1807H|CACNA1C_uc001qkj.1_Missense_Mutation_p.P1771H|CACNA1C_uc001qkk.1_Missense_Mutation_p.P1736H|CACNA1C_uc001qkm.1_Missense_Mutation_p.P1796H|CACNA1C_uc010sea.1_Missense_Mutation_p.P691H|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.P318H NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 2083 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GAGACCACCCCCGGTGGCGGG 0.711 19 32 --- --- --- --- PASS CCND2 894 broad.mit.edu 37 12 4409107 4409107 + Missense_Mutation SNP G C C rs3217921 byFrequency TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr12:4409107G>C uc001qmo.2 + 5 1107 c.802G>C c.(802-804)GGA>CGA p.G268R NM_001759 NP_001750 P30279 CCND2_HUMAN cyclin D2 268 cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1) 3 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) CCAACGTGACGGATCCAAGTC 0.567 T IGL@ NHL,CLL 6 110 --- --- --- --- PASS NDUFA9 4704 broad.mit.edu 37 12 4778914 4778914 + Missense_Mutation SNP A T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr12:4778914A>T uc001qnc.2 + 8 741 c.731A>T c.(730-732)GAT>GTT p.D244V NDUFA9_uc010ses.1_Missense_Mutation_p.D25V NM_005002 NP_004993 Q16795 NDUA9_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 244 mitochondrial electron transport, NADH to ubiquinone|sodium ion transport mitochondrial matrix|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|protein binding ovary(1) 1 NADH(DB00157) CAGGTCGTAGATGTATCCAAA 0.299 75 173 --- --- --- --- PASS SLC2A13 114134 broad.mit.edu 37 12 40442010 40442010 + Missense_Mutation SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr12:40442010T>C uc010skm.1 - 2 610 c.559A>G c.(559-561)ATT>GTT p.I187V SLC2A13_uc001rmf.2_Missense_Mutation_p.I187V NM_052885 NP_443117 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose 187 Helical; Name=4; (Potential). integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity ovary(1) 1 Lung NSC(34;0.105)|all_lung(34;0.123) ATAGAAGCAATGCCTATAAAA 0.388 HNSCC(50;0.14) 63 153 --- --- --- --- PASS MFSD5 84975 broad.mit.edu 37 12 53646886 53646886 + Silent SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr12:53646886C>A uc001sci.1 + 2 458 c.267C>A c.(265-267)GTC>GTA p.V89V MFSD5_uc001sch.1_Silent_p.V196V NM_032889 NP_116278 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 89 Helical; (Potential). transport integral to membrane skin(2)|ovary(1) 3 CCTCTACAGTCCTCTTTGGCC 0.498 66 501 --- --- --- --- PASS AAAS 8086 broad.mit.edu 37 12 53708616 53708616 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr12:53708616C>A uc001scr.3 - 6 627 c.464G>T c.(463-465)CGT>CTT p.R155L AAAS_uc001scs.3_Intron NM_015665 NP_056480 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, 155 WD 1. carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore ovary(1) 1 TGCAAAGACACGCAAGCAGCA 0.527 11 35 --- --- --- --- PASS OR6C1 390321 broad.mit.edu 37 12 55715175 55715175 + Silent SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr12:55715175T>C uc010spi.1 + 1 792 c.792T>C c.(790-792)GAT>GAC p.D264D NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 CAGCAAAAGATAGAGTGTCCT 0.438 35 184 --- --- --- --- PASS MDM1 56890 broad.mit.edu 37 12 68715378 68715378 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr12:68715378C>G uc001stz.2 - 6 968 c.832G>C c.(832-834)GAA>CAA p.E278Q MDM1_uc010stc.1_Missense_Mutation_p.E233Q|MDM1_uc009zqv.1_5'UTR NM_017440 NP_059136 Q8TC05 MDM1_HUMAN mouse Mdm1 nuclear protein homolog isoform 1 278 nucleus ovary(3)|skin(2) 5 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) ATCTCTGCTTCCAATTTTAAA 0.313 9 65 --- --- --- --- PASS ZFC3H1 196441 broad.mit.edu 37 12 72057376 72057376 + Silent SNP A G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr12:72057376A>G uc001swo.2 - 1 374 c.15T>C c.(13-15)GAT>GAC p.D5D ZFC3H1_uc010sts.1_Silent_p.D5D|ZFC3H1_uc001swp.2_Silent_p.D5D|THAP2_uc001swq.2_5'Flank NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 5 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 GGGCCGGAGTATCTGCGGTCG 0.602 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 187 --- --- --- --- PASS PAH 5053 broad.mit.edu 37 12 103237469 103237469 + Missense_Mutation SNP A G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr12:103237469A>G uc001tjq.1 - 12 1626 c.1154T>C c.(1153-1155)CTG>CCG p.L385P NM_000277 NP_000268 P00439 PH4H_HUMAN phenylalanine hydroxylase 385 catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity ovary(4) 4 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) CACGTAATAGAGGGGCTGGAA 0.527 28 100 --- --- --- --- PASS MYO1H 283446 broad.mit.edu 37 12 109880040 109880040 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr12:109880040C>T uc010sxo.1 + 4 451 c.176C>T c.(175-177)CCG>CTG p.P59L MYO1H_uc010sxn.1_Missense_Mutation_p.P868L Q8N1T3 MYO1H_HUMAN SubName: Full=cDNA FLJ54829, moderately similar to Myosin Ic; SubName: Full=Myosin IH, isoform CRA_a; 59 myosin complex motor activity 0 GACATTAATCCGAAAGTGCTT 0.443 21 70 --- --- --- --- PASS RASAL1 8437 broad.mit.edu 37 12 113539713 113539713 + Silent SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr12:113539713G>A uc001tum.1 - 20 2496 c.2203C>T c.(2203-2205)CTG>TTG p.L735L RASAL1_uc010syp.1_Silent_p.L736L|RASAL1_uc001tul.2_Silent_p.L707L|RASAL1_uc001tun.1_Silent_p.L737L NM_004658 NP_004649 O95294 RASL1_HUMAN RAS protein activator like 1 735 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity ovary(2)|skin(2) 4 TCCCGCCCCAGGAGCAGCTGC 0.652 10 87 --- --- --- --- PASS SLC24A6 80024 broad.mit.edu 37 12 113758204 113758204 + Missense_Mutation SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr12:113758204T>C uc001tvc.2 - 7 836 c.626A>G c.(625-627)TAC>TGC p.Y209C SLC24A6_uc001tuz.2_5'Flank|SLC24A6_uc001tva.2_RNA|SLC24A6_uc001tvb.2_Intron NM_024959 NP_079235 Q6J4K2 NCKX6_HUMAN solute carrier family 24 member 6 precursor 209 Helical; Name=4; (Potential). response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity central_nervous_system(1) 1 AGCCACCATGTAGAAAACGAT 0.612 23 448 --- --- --- --- PASS NOS1 4842 broad.mit.edu 37 12 117718548 117718548 + Silent SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr12:117718548G>T uc001twm.1 - 8 2192 c.1506C>A c.(1504-1506)GCC>GCA p.A502A NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 502 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ACTGCACATTGGCTGGGTCCC 0.597 32 99 --- --- --- --- PASS GPR81 27198 broad.mit.edu 37 12 123214157 123214157 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr12:123214157G>A uc001ucz.2 - 1 973 c.730C>T c.(730-732)CTC>TTC p.L244F GPR81_uc001ucw.1_RNA NM_032554 NP_115943 Q9BXC0 HCAR1_HUMAN G protein-coupled receptor 81 244 Extracellular (Potential). response to estradiol stimulus integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197) ACCGTCCAGAGGAAATAGAGT 0.567 45 123 --- --- --- --- PASS ULK1 8408 broad.mit.edu 37 12 132400609 132400609 + Missense_Mutation SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr12:132400609G>C uc001uje.2 + 19 2051 c.1783G>C c.(1783-1785)GGC>CGC p.G595R NM_003565 NP_003556 O75385 ULK1_HUMAN Unc-51-like kinase 1 595 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) GCCGTCCCACGGCCTGCAGTC 0.692 31 40 --- --- --- --- PASS TUBA3C 7278 broad.mit.edu 37 13 19753680 19753680 + Silent SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr13:19753680C>A uc009zzj.2 - 2 76 c.27G>T c.(25-27)GTG>GTT p.V9V NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 9 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CTGCCTGCCCCACGTGGATAG 0.453 36 99 --- --- --- --- PASS MPHOSPH8 54737 broad.mit.edu 37 13 20220920 20220920 + Missense_Mutation SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr13:20220920G>C uc001umh.2 + 3 716 c.707G>C c.(706-708)AGA>ACA p.R236T MPHOSPH8_uc001umf.1_Missense_Mutation_p.R236T|MPHOSPH8_uc001umg.2_Missense_Mutation_p.R236T|MPHOSPH8_uc001umi.2_5'UTR NM_017520 NP_059990 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 236 Lys-rich. cell cycle cytoplasm|nucleus 0 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) ggtgaaataagagatttaaag 0.164 7 53 --- --- --- --- PASS RNF17 56163 broad.mit.edu 37 13 25356003 25356003 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr13:25356003C>A uc001upr.2 + 6 573 c.532C>A c.(532-534)CAA>AAA p.Q178K RNF17_uc010tdd.1_Missense_Mutation_p.Q37K|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.Q178K|RNF17_uc001ups.2_Missense_Mutation_p.Q117K|RNF17_uc001upq.1_Missense_Mutation_p.Q178K NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 178 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CATGCAGAAGCAAACGATAGA 0.303 3 88 --- --- --- --- PASS CDX2 1045 broad.mit.edu 37 13 28539154 28539154 + Splice_Site SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr13:28539154T>C uc001urv.2 - 2 716 c.542_splice c.e2-1 p.V181_splice NM_001265 NP_001256 Q99626 CDX2_HUMAN caudal type homeobox 2 organ morphogenesis|transcription from RNA polymerase II promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1) 1 all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155) Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199) TGGTTTTCACTGTGGAGGAAG 0.527 T ETV6 AML 6 39 --- --- --- --- PASS WBP4 11193 broad.mit.edu 37 13 41642710 41642710 + Silent SNP A G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr13:41642710A>G uc001uxt.2 + 5 389 c.276A>G c.(274-276)CCA>CCG p.P92P WBP4_uc010tfd.1_Silent_p.P71P NM_007187 NP_009118 O75554 WBP4_HUMAN WW domain-containing binding protein 4 92 nuclear mRNA cis splicing, via spliceosome nuclear speck|spliceosomal complex nucleic acid binding|proline-rich region binding|zinc ion binding breast(2)|kidney(1) 3 Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07) TTTTGGAGCCAAGCATAACAC 0.289 11 114 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70314629 70314629 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr13:70314629G>T uc001vip.2 - 8 2493 c.1699C>A c.(1699-1701)CTG>ATG p.L567M KLHL1_uc010thm.1_Missense_Mutation_p.L506M NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 567 Kelch 3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) ACTGTATTCAGATAGCTCCAG 0.398 16 79 --- --- --- --- PASS EDNRB 1910 broad.mit.edu 37 13 78474768 78474768 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr13:78474768C>T uc001vko.2 - 5 1231 c.973G>A c.(973-975)GTC>ATC p.V325I EDNRB_uc001vkq.1_Missense_Mutation_p.V325I|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.V325I|EDNRB_uc001vkp.1_Missense_Mutation_p.V408I NM_001122659 NP_001116131 P24530 EDNRB_HUMAN endothelin receptor type B isoform 1 precursor 325 Helical; Name=6; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding 0 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) AGGCAAAAGACGGTTTTGGCC 0.418 38 89 --- --- --- --- PASS DCT 1638 broad.mit.edu 37 13 95131309 95131309 + Missense_Mutation SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr13:95131309G>C uc001vlv.3 - 1 628 c.201C>G c.(199-201)GAC>GAG p.D67E DCT_uc010afh.2_Missense_Mutation_p.D67E NM_001922 NP_001913 P40126 TYRP2_HUMAN dopachrome tautomerase isoform 1 67 Lumenal, melanosome (Potential). epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) AGGGCCTTGTGTCGGCTCGCA 0.607 7 150 --- --- --- --- PASS ABCC4 10257 broad.mit.edu 37 13 95715008 95715008 + Missense_Mutation SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr13:95715008T>C uc001vmd.3 - 26 3435 c.3316A>G c.(3316-3318)ACT>GCT p.T1106A ABCC4_uc010afj.2_5'UTR|ABCC4_uc010afk.2_Missense_Mutation_p.T1059A NM_005845 NP_005836 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C, member 4 1106 ABC transporter 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity central_nervous_system(3)|skin(1) 4 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) CCAATTTCAGTTGTCAAGATC 0.413 58 229 --- --- --- --- PASS EFNB2 1948 broad.mit.edu 37 13 107145564 107145564 + Nonsense_Mutation SNP T A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr13:107145564T>A uc001vqi.2 - 5 851 c.826A>T c.(826-828)AAG>TAG p.K276* NM_004093 NP_004084 P52799 EFNB2_HUMAN ephrin B2 precursor 276 Cytoplasmic (Potential). cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development integral to plasma membrane ephrin receptor binding ovary(1) 1 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) CCGCTGCGCTTGGGTGTGGCC 0.597 36 88 --- --- --- --- PASS MYH6 4624 broad.mit.edu 37 14 23854130 23854130 + Missense_Mutation SNP T G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr14:23854130T>G uc001wjv.2 - 35 5351 c.5284A>C c.(5284-5286)ACG>CCG p.T1762P NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1762 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTTACATCCGTGATGGCCTTC 0.582 28 150 --- --- --- --- PASS AKAP6 9472 broad.mit.edu 37 14 33291373 33291373 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr14:33291373G>A uc001wrq.2 + 13 4524 c.4354G>A c.(4354-4356)GAC>AAC p.D1452N NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1452 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) ACATACCCCTGACTGTTTGGG 0.358 27 61 --- --- --- --- PASS PTGDR 5729 broad.mit.edu 37 14 52741597 52741597 + Missense_Mutation SNP G T T rs41312506 byFrequency TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr14:52741597G>T uc001wzq.2 + 2 1097 c.995G>T c.(994-996)CGG>CTG p.R332L NM_000953 NP_000944 Q13258 PD2R_HUMAN prostaglandin D2 receptor 332 Cytoplasmic (Potential). integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) CCAGTATTTCGGATATTTTTT 0.413 20 38 --- --- --- --- PASS ARID4A 5926 broad.mit.edu 37 14 58814583 58814583 + Nonsense_Mutation SNP T G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr14:58814583T>G uc001xdp.2 + 15 1645 c.1391T>G c.(1390-1392)TTA>TGA p.L464* ARID4A_uc001xdo.2_Nonsense_Mutation_p.L464*|ARID4A_uc001xdq.2_Nonsense_Mutation_p.L464*|ARID4A_uc010apg.1_Nonsense_Mutation_p.L142* NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 464 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 GAGATAGAATTAAAATCTCCG 0.294 18 54 --- --- --- --- PASS PAPLN 89932 broad.mit.edu 37 14 73726051 73726051 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr14:73726051C>G uc010ttx.1 + 15 1946 c.1783C>G c.(1783-1785)CCC>GCC p.P595A PAPLN_uc001xnw.3_Missense_Mutation_p.P568A|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.P595A|PAPLN_uc010arm.2_5'Flank NM_173462 NP_775733 O95428 PPN_HUMAN papilin 595 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) ACGAGGTGACCCCAGGGGCGA 0.662 17 118 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106967184 106967184 + RNA SNP A T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr14:106967184A>T uc010tyt.1 - 201 c.9257T>A Parts of antibodies, mostly variable regions. 0 TACCACCACTAGGGTTGATTA 0.547 8 232 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28358790 28358790 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr15:28358790G>A uc001zbj.2 - 91 14054 c.13948C>T c.(13948-13950)CGG>TGG p.R4650W HERC2_uc001zbi.2_Missense_Mutation_p.R339W NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 4650 HECT. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ATTCCTTCCCGAACAGCAGCC 0.542 14 33 --- --- --- --- PASS EIF2AK4 440275 broad.mit.edu 37 15 40241344 40241344 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr15:40241344G>A uc001zkm.1 + 4 438 c.388G>A c.(388-390)GTG>ATG p.V130M EIF2AK4_uc001zkl.2_Missense_Mutation_p.V130M NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 130 RWD. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) GGCTTACCACGTGCAGTCATT 0.468 16 296 --- --- --- --- PASS MAPKBP1 23005 broad.mit.edu 37 15 42109934 42109934 + Splice_Site SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr15:42109934G>T uc001zok.3 + 17 2208 c.1922_splice c.e17+1 p.R641_splice MAPKBP1_uc001zoj.3_Splice_Site_p.R635_splice|MAPKBP1_uc010bcj.2_Splice_Site_p.R142_splice|MAPKBP1_uc010bci.2_Splice_Site_p.R635_splice|MAPKBP1_uc010udb.1_Splice_Site_p.R474_splice|MAPKBP1_uc010bck.2_Splice_Site|MAPKBP1_uc010bcl.2_Splice_Site_p.R142_splice NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) GAAATATTCGGTGGGCGTCCC 0.572 10 19 --- --- --- --- PASS HDC 3067 broad.mit.edu 37 15 50534807 50534807 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr15:50534807C>G uc001zxz.2 - 12 1745 c.1639G>C c.(1639-1641)GAC>CAC p.D547H HDC_uc001zxy.2_Missense_Mutation_p.D290H|HDC_uc010uff.1_Missense_Mutation_p.D514H NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 547 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) TCAACTGGGTCCAGCAGGGTT 0.522 30 129 --- --- --- --- PASS RFX7 64864 broad.mit.edu 37 15 56386134 56386134 + Silent SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr15:56386134T>C uc010bfn.2 - 9 3792 c.3792A>G c.(3790-3792)GCA>GCG p.A1264A RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Silent_p.A1078A NM_022841 NP_073752 Q2KHR2 RFX7_HUMAN regulatory factor X domain containing 2 1167 regulation of transcription, DNA-dependent nucleus DNA binding 0 AACCTCTCACTGCATCATCAT 0.423 37 75 --- --- --- --- PASS SCAPER 49855 broad.mit.edu 37 15 77021063 77021063 + Missense_Mutation SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr15:77021063G>C uc002bby.2 - 16 2097 c.2038C>G c.(2038-2040)CTA>GTA p.L680V SCAPER_uc010bkr.2_5'UTR|SCAPER_uc002bbx.2_Missense_Mutation_p.L434V|SCAPER_uc002bbz.1_Missense_Mutation_p.L551V|SCAPER_uc002bca.1_Missense_Mutation_p.L545V|SCAPER_uc002bcb.1_Missense_Mutation_p.L686V NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 679 Glu-rich. RAL->AAA: No effect on CCNA2/CDK2 complex-binding. endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 TCTGCCTCTAGAGCTCTCTTG 0.368 7 33 --- --- --- --- PASS ACSBG1 23205 broad.mit.edu 37 15 78486325 78486325 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr15:78486325C>A uc002bdh.2 - 4 547 c.491G>T c.(490-492)GGC>GTC p.G164V ACSBG1_uc010umw.1_Missense_Mutation_p.G160V|ACSBG1_uc010umx.1_Intron|ACSBG1_uc010umy.1_Missense_Mutation_p.G57V NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 164 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity ovary(1) 1 GGAGTTGAAGCCGAGGATGGC 0.662 5 37 --- --- --- --- PASS ST8SIA2 8128 broad.mit.edu 37 15 92977483 92977483 + Missense_Mutation SNP A T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr15:92977483A>T uc002bra.2 + 3 323 c.168A>T c.(166-168)GAA>GAT p.E56D ST8SIA2_uc002brb.2_Missense_Mutation_p.E35D NM_006011 NP_006002 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide 56 Lumenal (Potential). axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity 0 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) CCAGAGCTGAAGTTGTAATAA 0.433 35 198 --- --- --- --- PASS SOLH 6650 broad.mit.edu 37 16 597775 597775 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr16:597775G>A uc002chi.2 + 4 1300 c.937G>A c.(937-939)GGC>AGC p.G313S SOLH_uc002chh.1_Missense_Mutation_p.G313S NM_005632 NP_005623 O75808 CAN15_HUMAN small optic lobes 313 proteolysis intracellular calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|breast(1) 2 Hepatocellular(780;0.00335) CGTAGAGGCCGGCAGCTCCAC 0.677 14 17 --- --- --- --- PASS SEPT12 124404 broad.mit.edu 37 16 4836106 4836106 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr16:4836106C>A uc002cxq.2 - 3 308 c.167G>T c.(166-168)GGG>GTG p.G56V SEPT12_uc002cxr.2_Missense_Mutation_p.G56V|SEPT12_uc010bty.2_RNA|uc002cxt.2_5'Flank NM_144605 NP_653206 Q8IYM1 SEP12_HUMAN septin 12 isoform 2 56 GTP (By similarity). G->N: Abolishes binding to GTP and to SEPT11, and also abolishes the ability of SEPT12 to form filamentous structures. cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity skin(1) 1 CCCGCTTTGCCCTGGGAGTGG 0.478 19 43 --- --- --- --- PASS SEPT12 124404 broad.mit.edu 37 16 4836107 4836107 + Splice_Site SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr16:4836107C>A uc002cxq.2 - 3 308 c.167_splice c.e3-1 p.G56_splice SEPT12_uc002cxr.2_Splice_Site_p.G56_splice|SEPT12_uc010bty.2_Splice_Site|uc002cxt.2_5'Flank NM_144605 NP_653206 Q8IYM1 SEP12_HUMAN septin 12 isoform 2 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity skin(1) 1 CCGCTTTGCCCTGGGAGTGGC 0.473 20 44 --- --- --- --- PASS TMEM186 25880 broad.mit.edu 37 16 8890269 8890269 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr16:8890269C>T uc002cze.2 - 2 216 c.182G>A c.(181-183)CGT>CAT p.R61H PMM2_uc002czf.3_5'Flank|PMM2_uc010uyf.1_5'Flank|PMM2_uc010uyg.1_5'Flank|PMM2_uc010uyh.1_5'Flank|PMM2_uc010buj.2_5'Flank|PMM2_uc010uyi.1_5'Flank|PMM2_uc010uye.1_5'Flank NM_015421 NP_056236 Q96B77 TM186_HUMAN transmembrane protein 186 61 integral to membrane|mitochondrion ovary(1) 1 GGCATCAAAACGGTAAAACAT 0.512 45 132 --- --- --- --- PASS NSMCE1 197370 broad.mit.edu 37 16 27268767 27268767 + Missense_Mutation SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr16:27268767T>C uc002doi.1 - 2 223 c.125A>G c.(124-126)AAG>AGG p.K42R NSMCE1_uc002doj.1_RNA NM_145080 NP_659547 Q8WV22 NSE1_HUMAN non-SMC element 1 homolog 42 DNA recombination|DNA repair|intracellular signal transduction nucleus zinc ion binding 0 GTCATGGACCTTGTAGCAGTG 0.547 25 202 --- --- --- --- PASS KIAA0556 23247 broad.mit.edu 37 16 27751428 27751428 + Missense_Mutation SNP T G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr16:27751428T>G uc002dow.2 + 15 1834 c.1810T>G c.(1810-1812)TTA>GTA p.L604V NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 604 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 CAATGGCAAGTTAGACAAAGG 0.473 54 120 --- --- --- --- PASS GOT2 2806 broad.mit.edu 37 16 58750702 58750702 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr16:58750702C>A uc002eof.1 - 7 832 c.718G>T c.(718-720)GCG>TCG p.A240S GOT2_uc010vim.1_Missense_Mutation_p.A197S NM_002080 NP_002071 P00505 AATM_HUMAN aspartate aminotransferase 2 precursor 240 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TCAAAGAACGCAAAGAGATTC 0.453 22 76 --- --- --- --- PASS C16orf48 84080 broad.mit.edu 37 16 67698949 67698949 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr16:67698949G>A uc002etw.1 - 3 686 c.403C>T c.(403-405)CGC>TGC p.R135C C16orf48_uc002etv.1_5'Flank|C16orf48_uc010cem.1_Missense_Mutation_p.R135C|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.2_5'Flank|C16orf86_uc002etz.2_5'Flank NM_032140 NP_115516 Q9H0I2 CP048_HUMAN hypothetical protein LOC84080 135 microtubule cytoskeleton protein binding 0 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) TTGGGTGAGCGCCACAGAGCT 0.597 7 245 --- --- --- --- PASS WWP2 11060 broad.mit.edu 37 16 69965469 69965469 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr16:69965469G>T uc002exu.1 + 16 1668 c.1579G>T c.(1579-1581)GAT>TAT p.D527Y WWP2_uc002exv.1_Missense_Mutation_p.D527Y|WWP2_uc010vlm.1_Missense_Mutation_p.D411Y|WWP2_uc010vln.1_Missense_Mutation_p.D145Y|WWP2_uc002exw.1_Missense_Mutation_p.D88Y|uc002exx.1_5'Flank|MIR140_hsa-mir-140|MI0000456_5'Flank NM_007014 NP_008945 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 527 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity lung(3)|ovary(1)|breast(1)|skin(1) 6 GCTTTTCGAAGATTCCTTCCA 0.502 32 64 --- --- --- --- PASS BCAR1 9564 broad.mit.edu 37 16 75263596 75263596 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr16:75263596C>T uc002fdv.2 - 7 2549 c.2426G>A c.(2425-2427)CGC>CAC p.R809H BCAR1_uc002fdt.2_Missense_Mutation_p.R262H|BCAR1_uc002fdu.2_Missense_Mutation_p.R599H|BCAR1_uc010cgu.2_Missense_Mutation_p.R798H|BCAR1_uc010vna.1_Missense_Mutation_p.R807H|BCAR1_uc010vnb.1_Missense_Mutation_p.R855H|BCAR1_uc002fdw.2_Missense_Mutation_p.R809H|BCAR1_uc010vnc.1_Missense_Mutation_p.R661H|BCAR1_uc010vnd.1_Missense_Mutation_p.R827H|BCAR1_uc002fdx.2_Missense_Mutation_p.R827H NM_014567 NP_055382 P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 809 actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity central_nervous_system(5)|breast(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.169) CACCTGGCTGCGCACGTCAGC 0.632 14 44 --- --- --- --- PASS PKD1L2 114780 broad.mit.edu 37 16 81161381 81161381 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr16:81161381C>T uc002fgh.1 - 38 6335 c.6335G>A c.(6334-6336)CGC>CAC p.R2112H PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 2112 Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 CGTGCTTTGGCGATCAGTCCC 0.517 14 37 --- --- --- --- PASS PKD1L2 114780 broad.mit.edu 37 16 81248675 81248675 + Silent SNP G T T rs79108751 byFrequency TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr16:81248675G>T uc002fgh.1 - 3 588 c.588C>A c.(586-588)GCC>GCA p.A196A PKD1L2_uc002fgj.2_Silent_p.A196A NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 196 SUEL-type lectin.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 AAGGACGCCCGGCATCCTGGG 0.642 OREG0023964 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 10 --- --- --- --- PASS PRPF8 10594 broad.mit.edu 37 17 1585256 1585256 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr17:1585256C>A uc002fte.2 - 5 625 c.511G>T c.(511-513)GAT>TAT p.D171Y NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 171 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GGCTCCTCATCATCAAAAGGG 0.512 4 156 --- --- --- --- PASS CTNS 1497 broad.mit.edu 37 17 3561418 3561418 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr17:3561418C>A uc002fwb.2 + 10 1394 c.801C>A c.(799-801)TTC>TTA p.F267L CTNS_uc002fwa.2_Missense_Mutation_p.F267L|CTNS_uc010ckj.2_Missense_Mutation_p.F267L|CTNS_uc010vrv.1_Missense_Mutation_p.F120L|CTNS_uc010vrw.1_Missense_Mutation_p.F159L NM_004937 NP_004928 O60931 CTNS_HUMAN cystinosin isoform 2 267 Helical; (Potential).|PQ-loop 2. ATP metabolic process|brain development|cognition|glutathione metabolic process integral to membrane|late endosome|lysosomal membrane L-cystine transmembrane transporter activity 0 COAD - Colon adenocarcinoma(5;0.0829) L-Cystine(DB00138) AGTTTCTCTTCTGCTTCTCCT 0.587 6 112 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578177 7578177 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr17:7578177C>G uc002gim.2 - 6 866 c.672G>C c.(670-672)GAG>GAC p.E224D TP53_uc002gig.1_Missense_Mutation_p.E224D|TP53_uc002gih.2_Missense_Mutation_p.E224D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E92D|TP53_uc010cng.1_Missense_Mutation_p.E92D|TP53_uc002gii.1_Missense_Mutation_p.E92D|TP53_uc010cnh.1_Missense_Mutation_p.E224D|TP53_uc010cni.1_Missense_Mutation_p.E224D|TP53_uc002gij.2_Missense_Mutation_p.E224D|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.E131D|TP53_uc002gio.2_Missense_Mutation_p.E92D|TP53_uc010vug.1_Missense_Mutation_p.E185D NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 224 Required for interaction with FBXO42.||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 a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E224D(11)|p.0?(7)|p.E224E(6)|p.E224K(5)|p.E224*(4)|p.?(3)|p.E224G(2)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.E224fs*23(1)|p.V225fs*24(1)|p.E224fs*24(1)|p.E224_V225insXX(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) CAAACCAGACCTCAGGCGGCT 0.522 111 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) 15 35 --- --- --- --- PASS UNC45B 146862 broad.mit.edu 37 17 33498393 33498393 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr17:33498393C>G uc002hja.2 + 13 1845 c.1748C>G c.(1747-1749)ACC>AGC p.T583S UNC45B_uc002hjb.2_Missense_Mutation_p.T581S|UNC45B_uc002hjc.2_Missense_Mutation_p.T581S|UNC45B_uc010cto.2_Missense_Mutation_p.T502S NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 583 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) GTGAACTGCACCAACAGCTAC 0.567 OREG0024327 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 183 --- --- --- --- PASS TMEM99 147184 broad.mit.edu 37 17 38991294 38991294 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr17:38991294C>G uc002hvj.1 + 3 833 c.526C>G c.(526-528)CTT>GTT p.L176V NM_145274 NP_660317 Q8N816 TMM99_HUMAN transmembrane protein 99 precursor 176 integral to membrane skin(1) 1 Breast(137;0.000301) CCCATCAGTTCTTTACTCTGA 0.393 33 288 --- --- --- --- PASS KRT31 3881 broad.mit.edu 37 17 39550377 39550377 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr17:39550377G>T uc002hwn.2 - 7 1195 c.1142C>A c.(1141-1143)CCC>CAC p.P381H KRT31_uc010cxn.2_3'UTR NM_002277 NP_002268 Q15323 K1H1_HUMAN keratin 31 381 Tail. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton 0 Breast(137;0.000496) GGGTCCGATGGGCTTGCTGCA 0.557 24 109 --- --- --- --- PASS JUP 3728 broad.mit.edu 37 17 39912009 39912009 + Missense_Mutation SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr17:39912009T>C uc002hxq.2 - 14 2502 c.2225A>G c.(2224-2226)CAC>CGC p.H742R JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Missense_Mutation_p.H742R|JUP_uc002hxs.2_Missense_Mutation_p.H742R NM_021991 NP_068831 P14923 PLAK_HUMAN junction plakoglobin 742 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity ovary(2)|lung(2)|breast(1) 5 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GGCCAGCATGTGGTCTGCAGT 0.637 17 60 --- --- --- --- PASS DBF4B 80174 broad.mit.edu 37 17 42815778 42815778 + Missense_Mutation SNP C G G rs61660093 TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr17:42815778C>G uc002ihf.2 + 9 912 c.699C>G c.(697-699)ATC>ATG p.I233M DBF4B_uc010wjb.1_RNA|DBF4B_uc002ihe.2_Missense_Mutation_p.I47M|DBF4B_uc010wjc.1_Missense_Mutation_p.I217M NM_145663 NP_663696 Q8NFT6 DBF4B_HUMAN DBF4 homolog B isoform 1 233 cell cycle nucleus nucleic acid binding|zinc ion binding 0 Prostate(33;0.0322) TCCTCAAAATCGAAGATGAAA 0.587 54 168 --- --- --- --- PASS KIF18B 146909 broad.mit.edu 37 17 43004447 43004447 + Splice_Site SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr17:43004447C>T uc010wji.1 - 14 2387 c.2286_splice c.e14-1 p.R762_splice KIF18B_uc002iht.2_Splice_Site_p.R771_splice|KIF18B_uc010wjh.1_Splice_Site_p.R759_splice NM_001080443 NP_001073912 kinesin family member 18B ovary(2) 2 Prostate(33;0.155) CACAGGTGCCCTGGGGAGGGA 0.463 10 26 --- --- --- --- PASS MAPT 4137 broad.mit.edu 37 17 44096082 44096082 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr17:44096082G>A uc002ijr.3 + 13 2367 c.2047G>A c.(2047-2049)GGA>AGA p.G683R MAPT_uc010dau.2_Missense_Mutation_p.G701R|MAPT_uc002ijs.3_Missense_Mutation_p.G366R|MAPT_uc002ijx.3_Missense_Mutation_p.G337R|MAPT_uc002ijt.3_Missense_Mutation_p.G308R|MAPT_uc002iju.3_Missense_Mutation_p.G277R|MAPT_uc002ijv.3_Missense_Mutation_p.G284R NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 683 Tau/MAP 4. cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton pancreas(1) 1 Melanoma(429;0.216) CGTCCCTGGCGGAGGAAATAA 0.512 62 164 --- --- --- --- PASS WNT9B 7484 broad.mit.edu 37 17 44952487 44952487 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr17:44952487C>G uc002ikw.1 + 3 392 c.355C>G c.(355-357)CTG>GTG p.L119V WNT9B_uc002ikx.1_Missense_Mutation_p.L119V NM_003396 NP_003387 O14905 WNT9B_HUMAN wingless-type MMTV integration site family, 119 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding lung(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.0257) GACAGCTTTCCTGTACGCGGT 0.542 40 388 --- --- --- --- PASS CDC27 996 broad.mit.edu 37 17 45232092 45232092 + Silent SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr17:45232092G>A uc002ild.3 - 8 1030 c.903C>T c.(901-903)TAC>TAT p.Y301Y CDC27_uc002ile.3_Silent_p.Y301Y|CDC27_uc002ilf.3_Silent_p.Y301Y|CDC27_uc010wkp.1_Silent_p.Y240Y|CDC27_uc010wkq.1_RNA NM_001256 NP_001247 P30260 CDC27_HUMAN cell division cycle protein 27 isoform 2 301 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding lung(2)|breast(2)|ovary(1) 5 GTGTATTAGTGTAGTTTTGTA 0.388 17 62 --- --- --- --- PASS ABCC3 8714 broad.mit.edu 37 17 48745019 48745019 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr17:48745019G>T uc002isl.2 + 12 1616 c.1536G>T c.(1534-1536)AAG>AAT p.K512N ABCC3_uc002isk.3_Missense_Mutation_p.K512N NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 512 ABC transmembrane type-1 1.|Cytoplasmic (By similarity). bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) GCTTCCTGAAGCAGGTGGAGG 0.592 21 51 --- --- --- --- PASS ACE 1636 broad.mit.edu 37 17 61560819 61560819 + Splice_Site SNP A G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr17:61560819A>G uc002jau.1 + 10 1510 c.1488_splice c.e10-2 p.R496_splice ACE_uc010wpi.1_Splice_Site_p.E448_splice|ACE_uc010ddu.1_Splice_Site_p.R313_splice|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc010wpj.1_5'Flank|ACE_uc002jaw.1_5'Flank|ACE_uc010wpk.1_5'Flank NM_000789 NP_000780 P12821 ACE_HUMAN angiotensin I converting enzyme 1 isoform 1 arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) ATCCTTTTCCAGAACCAAGTA 0.453 36 146 --- --- --- --- PASS SLC16A6 9120 broad.mit.edu 37 17 66267246 66267246 + Missense_Mutation SNP T A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr17:66267246T>A uc002jgz.1 - 5 1243 c.1055A>T c.(1054-1056)AAC>ATC p.N352I ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Missense_Mutation_p.N352I NM_004694 NP_004685 O15403 MOT7_HUMAN solute carrier family 16, member 6 352 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity 0 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) GGGCTCCCTGTTGAGGACAAA 0.458 26 130 --- --- --- --- PASS KCNJ2 3759 broad.mit.edu 37 17 68171404 68171404 + Missense_Mutation SNP C A A rs104894585 TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr17:68171404C>A uc010dfg.2 + 2 625 c.224C>A c.(223-225)ACG>AAG p.T75K KCNJ2_uc002jir.2_Missense_Mutation_p.T75K NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 75 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) ATCTTCACCACGTGTGTGGAC 0.512 70 174 --- --- --- --- PASS TBCD 6904 broad.mit.edu 37 17 80755631 80755631 + Splice_Site SNP A T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr17:80755631A>T uc002kfz.2 + 8 902 c.772_splice c.e8-2 p.A258_splice TBCD_uc002kfx.1_Splice_Site_p.A241_splice|TBCD_uc002kfy.1_Splice_Site_p.A258_splice NM_005993 NP_005984 Q9BTW9 TBCD_HUMAN beta-tubulin cofactor D 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity 0 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) TTTTTTTTTTAGGCACAAATA 0.264 3 28 --- --- --- --- PASS PSMA8 143471 broad.mit.edu 37 18 23731827 23731827 + Missense_Mutation SNP A G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr18:23731827A>G uc002kvq.2 + 3 367 c.253A>G c.(253-255)ACT>GCT p.T85A PSMA8_uc002kvo.2_Missense_Mutation_p.T41A|PSMA8_uc002kvp.2_Missense_Mutation_p.T79A|PSMA8_uc002kvr.2_Missense_Mutation_p.T53A NM_144662 NP_653263 Q8TAA3 PSA7L_HUMAN proteasome alpha 8 subunit isoform 1 85 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex threonine-type endopeptidase activity skin(1) 1 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) TATAGGACTTACTGCTGATGC 0.363 12 183 --- --- --- --- PASS CDH2 1000 broad.mit.edu 37 18 25570124 25570124 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr18:25570124G>A uc002kwg.2 - 10 1994 c.1535C>T c.(1534-1536)GCC>GTC p.A512V CDH2_uc010xbn.1_Missense_Mutation_p.A481V NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 512 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 CATGGTACCGGCATGAAGCCC 0.413 5 252 --- --- --- --- PASS PSTPIP2 9050 broad.mit.edu 37 18 43579495 43579495 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr18:43579495C>A uc002lbp.3 - 7 519 c.423G>T c.(421-423)AAG>AAT p.K141N PSTPIP2_uc002lbq.3_Missense_Mutation_p.K141N NM_024430 NP_077748 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting 141 Potential. membrane ovary(1) 1 CATAGTTCTTCTTTGCCTTTG 0.498 4 166 --- --- --- --- PASS SERPINB13 5275 broad.mit.edu 37 18 61260205 61260205 + Nonsense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr18:61260205G>T uc002ljc.2 + 5 640 c.472G>T c.(472-474)GAA>TAA p.E158* SERPINB13_uc002ljd.2_5'UTR|SERPINB13_uc010xep.1_Nonsense_Mutation_p.E167*|SERPINB13_uc010xeq.1_Intron|SERPINB13_uc010xer.1_Intron NM_012397 NP_036529 Q9UIV8 SPB13_HUMAN serine (or cysteine) proteinase inhibitor, clade 158 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity ovary(1) 1 CAAAACAAATGGTAGAGTATG 0.264 39 127 --- --- --- --- PASS ZNF236 7776 broad.mit.edu 37 18 74625717 74625717 + Missense_Mutation SNP A G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr18:74625717A>G uc002lmi.2 + 18 3116 c.2918A>G c.(2917-2919)AAC>AGC p.N973S ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 973 C2H2-type 18. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GACTATTGCAACAAAGGCTTT 0.468 23 92 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76753289 76753289 + Missense_Mutation SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr18:76753289G>C uc002lmt.2 + 2 1298 c.1298G>C c.(1297-1299)AGC>ACC p.S433T SALL3_uc010dra.2_Missense_Mutation_p.S40T NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 433 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GGCAGCGACAGCGCGCTCCAG 0.622 11 27 --- --- --- --- PASS SPPL2B 56928 broad.mit.edu 37 19 2351493 2351493 + Silent SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr19:2351493C>T uc002lvs.2 + 15 1496 c.1416C>T c.(1414-1416)CCC>CCT p.P472P SPPL2B_uc002lvr.2_Silent_p.P472P NM_152988 NP_694533 Q8TCT7 PSL1_HUMAN signal peptide peptidase-like 2B isoform 2 472 Golgi membrane|integral to membrane aspartic-type endopeptidase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGGCCAGCCCGCTCTCCTCT 0.682 80 76 --- --- --- --- PASS STAP2 55620 broad.mit.edu 37 19 4327374 4327374 + Missense_Mutation SNP A C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr19:4327374A>C uc002mab.2 - 7 696 c.599T>G c.(598-600)GTG>GGG p.V200G STAP2_uc002mac.2_Missense_Mutation_p.V200G|STAP2_uc002mad.2_Missense_Mutation_p.V93G NM_001013841 NP_001013863 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 200 SH2. cytoplasm|nucleus protein binding central_nervous_system(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) ATGCCGGACCACGTGCGTCCT 0.642 3 60 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9062137 9062137 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr19:9062137G>T uc002mkp.2 - 3 25513 c.25309C>A c.(25309-25311)CTT>ATT p.L8437I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8439 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ACTTCAGAAAGGACAGTGCTT 0.522 85 151 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9084383 9084383 + Missense_Mutation SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr19:9084383T>C uc002mkp.2 - 1 7636 c.7432A>G c.(7432-7434)ATG>GTG p.M2478V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2478 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTGCTGACCATGGTGCTGAAA 0.517 OREG0006611 type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 39 62 --- --- --- --- PASS DOCK6 57572 broad.mit.edu 37 19 11361676 11361676 + Silent SNP T G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr19:11361676T>G uc002mqs.3 - 6 635 c.594A>C c.(592-594)GCA>GCC p.A198A NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 198 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 ATGAGTCAGCTGCCAGGTTCC 0.652 6 45 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23544808 23544808 + Nonsense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr19:23544808C>A uc002nre.2 - 4 1086 c.973G>T c.(973-975)GAA>TAA p.E325* ZNF91_uc010xrj.1_Nonsense_Mutation_p.E293* NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 325 C2H2-type 7. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CCACATTCTTCACATTTGTAG 0.388 33 228 --- --- --- --- PASS ZNF527 84503 broad.mit.edu 37 19 37870038 37870038 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr19:37870038G>T uc010efk.1 + 3 161 c.50G>T c.(49-51)AGA>ATA p.R17I ZNF527_uc002ogf.3_Missense_Mutation_p.R17I|ZNF527_uc010xtq.1_RNA|ZNF527_uc002oge.2_Missense_Mutation_p.R17I NM_032453 NP_115829 Q8NB42 ZN527_HUMAN zinc finger protein 527 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTGACCTTCAGAGATGTGGCG 0.433 30 109 --- --- --- --- PASS ZNF573 126231 broad.mit.edu 37 19 38229489 38229489 + Silent SNP A G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr19:38229489A>G uc002ohe.2 - 4 1924 c.1902T>C c.(1900-1902)GGT>GGC p.G634G ZNF573_uc010efs.2_Silent_p.G547G|ZNF573_uc002ohd.2_Silent_p.G632G|ZNF573_uc002ohf.2_Silent_p.G576G|ZNF573_uc002ohg.2_Silent_p.G546G NM_152360 NP_689573 Q86YE8 ZN573_HUMAN zinc finger protein 573 614 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) AGGGTTTCTCACCAGTATGAA 0.408 15 312 --- --- --- --- PASS FBXO27 126433 broad.mit.edu 37 19 39516090 39516090 + Silent SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr19:39516090C>T uc002okh.2 - 6 895 c.813G>A c.(811-813)GTG>GTA p.V271V NM_178820 NP_849142 Q8NI29 FBX27_HUMAN F-box protein 27 271 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding ovary(1) 1 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) TGGAGTTGGTCACACGGGCTC 0.587 12 126 --- --- --- --- PASS HNRNPUL1 11100 broad.mit.edu 37 19 41784998 41784998 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr19:41784998C>T uc002oqb.3 + 6 1092 c.803C>T c.(802-804)TCC>TTC p.S268F CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.S168F|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.S168F|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.S268F|HNRNPUL1_uc002oqc.3_Intron|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.S168F|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.S168F|HNRNPUL1_uc010eho.2_Missense_Mutation_p.S168F|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.S168F|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.S124F|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.S168F NM_007040 NP_008971 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 268 B30.2/SPRY.|Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding central_nervous_system(1)|skin(1) 2 GAGGAAATCTCCGTGAAGCAC 0.557 31 201 --- --- --- --- PASS GRLF1 2909 broad.mit.edu 37 19 47503883 47503883 + Missense_Mutation SNP A C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr19:47503883A>C uc010ekv.2 + 6 4438 c.4438A>C c.(4438-4440)ACC>CCC p.T1480P NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 1480 Pro-rich. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) GCCTCCACCCACCCCCCAGTC 0.667 4 8 --- --- --- --- PASS NLRP12 91662 broad.mit.edu 37 19 54314294 54314294 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr19:54314294G>T uc002qch.3 - 3 839 c.619C>A c.(619-621)CCC>ACC p.P207T NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.P207T|NLRP12_uc002qcj.3_Missense_Mutation_p.P207T|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.P207T NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 207 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GGTGGCTCGGGGCGCTCCTCG 0.647 13 117 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56422060 56422060 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr19:56422060G>T uc010ygg.1 - 6 2176 c.2151C>A c.(2149-2151)AGC>AGA p.S717R NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 717 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TAGAGCAAATGCTGTTCCATG 0.458 21 156 --- --- --- --- PASS ZNF667 63934 broad.mit.edu 37 19 56953098 56953098 + Silent SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr19:56953098C>T uc002qnd.2 - 5 1428 c.1266G>A c.(1264-1266)AAG>AAA p.K422K ZNF667_uc010etl.2_Silent_p.K204K|ZNF667_uc002qne.2_Silent_p.K422K|ZNF667_uc010etm.2_Silent_p.K365K NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 422 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) CAGAAAACATCTTCCCACATT 0.343 16 64 --- --- --- --- PASS MIR103-2 406896 broad.mit.edu 37 20 3898152 3898152 + RNA SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr20:3898152G>C hsa-mir-103-2|MI0000108 + c.12G>C PANK2_uc002wkb.2_Intron|PANK2_uc002wkc.2_Intron|PANK2_uc002wkd.2_Intron|PANK2_uc002wke.2_Intron|PANK2_uc002wkf.2_Intron|uc002wkg.2_RNA|MIR103-2AS_hsa-mir-103-2-as|MI0007262_RNA 0 TGTGCTTTCAGCTTCTTTACA 0.542 6 158 --- --- --- --- PASS CRNKL1 51340 broad.mit.edu 37 20 20033048 20033048 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr20:20033048G>T uc002wrs.2 - 2 454 c.422C>A c.(421-423)TCT>TAT p.S141Y C20orf26_uc010gcw.1_5'Flank|C20orf26_uc010zse.1_5'Flank|C20orf26_uc002wru.2_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.S129Y NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN crooked neck-like 1 protein 141 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding ovary(2)|large_intestine(1) 3 TCGGCTCTGAGAGCTCACCGA 0.597 12 108 --- --- --- --- PASS CST11 140880 broad.mit.edu 37 20 23433296 23433296 + Silent SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr20:23433296G>T uc002wtf.1 - 1 187 c.153C>A c.(151-153)ATC>ATA p.I51I CST11_uc002wtg.1_Silent_p.I51I NM_130794 NP_570612 Q9H112 CST11_HUMAN cystatin 11 isoform 1 precursor 51 defense response to bacterium cytoplasm|nucleus cysteine-type endopeptidase inhibitor activity 0 Colorectal(13;0.0431)|Lung NSC(19;0.235) ACTGGTCGGTGATCCACTGCA 0.493 43 314 --- --- --- --- PASS NINL 22981 broad.mit.edu 37 20 25448084 25448084 + Missense_Mutation SNP C G G rs35479032 byFrequency TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr20:25448084C>G uc002wux.1 - 19 3438 c.3364G>C c.(3364-3366)GAG>CAG p.E1122Q NINL_uc010gdn.1_Missense_Mutation_p.E773Q NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 1122 Potential. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 TTTAAAACCTCAATTTCCTTC 0.498 39 215 --- --- --- --- PASS SFRS6 6431 broad.mit.edu 37 20 42087023 42087023 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr20:42087023G>A uc010zwg.1 + 2 300 c.130G>A c.(130-132)GAC>AAC p.D44N SFRS6_uc002xki.2_5'UTR|SFRS6_uc002xkk.2_Missense_Mutation_p.D44N NM_006275 NP_006266 Q13247 SRSF6_HUMAN arginine/serine-rich splicing factor 6 44 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GGAGTTCGAGGACTCCCGCGA 0.716 3 16 --- --- --- --- PASS GDAP1L1 78997 broad.mit.edu 37 20 42893100 42893100 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr20:42893100C>A uc002xlq.2 + 5 728 c.661C>A c.(661-663)CAT>AAT p.H221N GDAP1L1_uc002xlp.1_Missense_Mutation_p.H221N|GDAP1L1_uc010zwl.1_Missense_Mutation_p.H240N|GDAP1L1_uc010zwm.1_Missense_Mutation_p.H163N|GDAP1L1_uc010zwn.1_Missense_Mutation_p.H29N NM_024034 NP_076939 Q96MZ0 GD1L1_HUMAN ganglioside-induced differentiation-associated 221 GST C-terminal. large_intestine(1) 1 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GATCTTGGAGCATGATGATGT 0.557 17 35 --- --- --- --- PASS ARFGEF2 10564 broad.mit.edu 37 20 47633845 47633845 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr20:47633845G>A uc002xtx.3 + 32 4527 c.4375G>A c.(4375-4377)GGA>AGA p.G1459R ARFGEF2_uc010zyf.1_Missense_Mutation_p.G752R NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 1459 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) AATATCCAATGGAGAGAAATT 0.363 23 208 --- --- --- --- PASS ARFGEF2 10564 broad.mit.edu 37 20 47633846 47633846 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr20:47633846G>T uc002xtx.3 + 32 4528 c.4376G>T c.(4375-4377)GGA>GTA p.G1459V ARFGEF2_uc010zyf.1_Missense_Mutation_p.G752V NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 1459 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) ATATCCAATGGAGAGAAATTC 0.368 23 214 --- --- --- --- PASS CASS4 57091 broad.mit.edu 37 20 55027721 55027721 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr20:55027721G>T uc002xxp.2 + 6 1714 c.1489G>T c.(1489-1491)GCC>TCC p.A497S CASS4_uc002xxq.3_Missense_Mutation_p.A497S|CASS4_uc002xxr.2_Missense_Mutation_p.A497S|CASS4_uc010zze.1_Missense_Mutation_p.A443S|CASS4_uc010gio.2_Intron NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 497 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 TCTGGATTTTGCCCGAGGAGT 0.488 8 107 --- --- --- --- PASS GAB4 128954 broad.mit.edu 37 22 17443699 17443699 + Missense_Mutation SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr22:17443699T>C uc002zlw.2 - 10 1757 c.1649A>G c.(1648-1650)CAG>CGG p.Q550R NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 550 large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) CTGCAGGGCCTGGGTCTTCTC 0.607 24 87 --- --- --- --- PASS USP18 11274 broad.mit.edu 37 22 18653530 18653530 + Missense_Mutation SNP T A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr22:18653530T>A uc002zny.2 + 8 1072 c.734T>A c.(733-735)CTG>CAG p.L245Q NM_017414 NP_059110 Q9UMW8 UBP18_HUMAN ubiquitin specific protease 18 245 regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process cytosol|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1) 1 GTCTTGAAGCTGACCCATTTG 0.483 23 245 --- --- --- --- PASS USP18 11274 broad.mit.edu 37 22 18653534 18653534 + Silent SNP C T T rs113750800 TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr22:18653534C>T uc002zny.2 + 8 1076 c.738C>T c.(736-738)ACC>ACT p.T246T NM_017414 NP_059110 Q9UMW8 UBP18_HUMAN ubiquitin specific protease 18 246 regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process cytosol|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1) 1 TGAAGCTGACCCATTTGCCCC 0.493 24 240 --- --- --- --- PASS CLTCL1 8218 broad.mit.edu 37 22 19221124 19221124 + Missense_Mutation SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr22:19221124T>C uc002zpb.2 - 8 1264 c.1189A>G c.(1189-1191)ACG>GCG p.T397A CLTCL1_uc011agv.1_Missense_Mutation_p.T397A|CLTCL1_uc011agw.1_Missense_Mutation_p.T397A NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 397 Globular terminal domain. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) TTCTGGACCGTCTCTCTGGTA 0.458 T ? ALCL 19 67 --- --- --- --- PASS PI4KA 5297 broad.mit.edu 37 22 21119398 21119398 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr22:21119398G>A uc002zsz.3 - 21 2621 c.2390C>T c.(2389-2391)ACG>ATG p.T797M NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 797 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GGGGGTGACCGTGTCATTCTT 0.498 37 490 --- --- --- --- PASS DEPDC5 9681 broad.mit.edu 37 22 32234677 32234677 + Silent SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr22:32234677C>T uc003als.2 + 27 2476 c.2334C>T c.(2332-2334)GAC>GAT p.D778D DEPDC5_uc011als.1_Silent_p.D709D|DEPDC5_uc011alu.1_Silent_p.D787D|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.D778D|DEPDC5_uc003alu.2_Silent_p.D227D|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Silent_p.D108D|DEPDC5_uc003alw.2_Silent_p.D76D|DEPDC5_uc011alx.1_Translation_Start_Site NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 778 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 TCAGGAGGGACGAAGATGGTG 0.483 21 204 --- --- --- --- PASS LARGE 9215 broad.mit.edu 37 22 34000432 34000432 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr22:34000432C>A uc003and.3 - 6 1183 c.604G>T c.(604-606)GAC>TAC p.D202Y LARGE_uc003ane.3_Missense_Mutation_p.D202Y|LARGE_uc010gwp.2_Missense_Mutation_p.D202Y|LARGE_uc011ame.1_Missense_Mutation_p.D134Y|LARGE_uc011amf.1_Missense_Mutation_p.D202Y NM_004737 NP_004728 O95461 LARGE_HUMAN like-glycosyltransferase 202 Lumenal (Potential). glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(1;0.219) TTGAGCTCGTCTGCATTGTAG 0.547 32 132 --- --- --- --- PASS MYH9 4627 broad.mit.edu 37 22 36690217 36690217 + Missense_Mutation SNP T G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr22:36690217T>G uc003apg.2 - 28 3989 c.3758A>C c.(3757-3759)CAG>CCG p.Q1253P NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1253 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity p.K1249_E1256delKVEAQLQE(1) breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 CTCCTGCAGCTGCGCCTCCAC 0.647 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 16 192 --- --- --- --- PASS PLXNB2 23654 broad.mit.edu 37 22 50714336 50714336 + Silent SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr22:50714336C>T uc003bkv.3 - 36 5500 c.5394G>A c.(5392-5394)ACG>ACA p.T1798T PLXNB2_uc003bkt.1_Silent_p.T590T|PLXNB2_uc003bku.1_Silent_p.T783T NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1798 Cytoplasmic (Potential). regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AGTACTTCTGCGTGTATTGGT 0.657 OREG0026679 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 53 --- --- --- --- PASS CSF2RA 1438 broad.mit.edu 37 X 1407771 1407771 + Nonsense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:1407771C>T uc010nct.2 + 7 785 c.463C>T c.(463-465)CGA>TGA p.R155* CSF2RA_uc011mhb.1_Nonsense_Mutation_p.R155*|CSF2RA_uc004cpq.2_Nonsense_Mutation_p.R155*|CSF2RA_uc004cpn.2_Nonsense_Mutation_p.R155*|CSF2RA_uc004cpo.2_Nonsense_Mutation_p.R155*|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Nonsense_Mutation_p.R22*|CSF2RA_uc004cpp.2_Nonsense_Mutation_p.R155*|CSF2RA_uc010ncv.2_Nonsense_Mutation_p.R155*|CSF2RA_uc004cpr.2_Nonsense_Mutation_p.R155* NM_001161529 NP_001155001 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor alpha chain 155 Extracellular (Potential). extracellular region|integral to plasma membrane cytokine receptor activity ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TTTGTACATACGAAACTCAAA 0.393 39 142 --- --- --- --- PASS SHROOM2 357 broad.mit.edu 37 X 9862559 9862559 + Missense_Mutation SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:9862559G>C uc004csu.1 + 4 701 c.611G>C c.(610-612)AGC>ACC p.S204T NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 204 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) GGCAGCCACAGCAAGCGCGAC 0.622 3 63 --- --- --- --- PASS POLA1 5422 broad.mit.edu 37 X 24751921 24751921 + Silent SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:24751921C>G uc004dbl.2 + 17 1826 c.1803C>G c.(1801-1803)GTC>GTG p.V601V POLA1_uc004dbn.2_Silent_p.V465V NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 601 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) TCAAAGAAGTCATTGAGAAAA 0.338 24 102 --- --- --- --- PASS CXorf59 286464 broad.mit.edu 37 X 36103515 36103515 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:36103515G>T uc004ddk.1 + 5 687 c.501G>T c.(499-501)AAG>AAT p.K167N NM_173695 NP_775966 Q8N9S7 CX059_HUMAN hypothetical protein LOC286464 167 integral to membrane central_nervous_system(1) 1 AATATAATAAGACCATTTATG 0.353 54 129 --- --- --- --- PASS RPGR 6103 broad.mit.edu 37 X 38145005 38145005 + Missense_Mutation SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:38145005C>T uc004ded.1 - 15 3415 c.3247G>A c.(3247-3249)GAG>AAG p.E1083K RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron NM_001034853 NP_001030025 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform C 865 Glu-rich. intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 TTGTACTCCTCTCCATCCTGC 0.289 6 438 --- --- --- --- PASS AKAP4 8852 broad.mit.edu 37 X 49957274 49957274 + Missense_Mutation SNP A C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:49957274A>C uc004dow.1 - 5 2214 c.2090T>G c.(2089-2091)ATA>AGA p.I697R AKAP4_uc004dov.1_Missense_Mutation_p.I314R|AKAP4_uc010njp.1_Missense_Mutation_p.I519R|AKAP4_uc004dou.1_Missense_Mutation_p.I688R NM_003886 NP_003877 Q5JQC9 AKAP4_HUMAN A-kinase anchor protein 4 isoform 1 697 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 8 Ovarian(276;0.236) TAGTTTATCTATAAATTGCCC 0.473 4 134 --- --- --- --- PASS LAS1L 81887 broad.mit.edu 37 X 64734720 64734720 + Silent SNP G A A rs146839918 TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:64734720G>A uc004dwa.1 - 13 2133 c.2061C>T c.(2059-2061)CCC>CCT p.P687P LAS1L_uc004dwc.1_Silent_p.P670P|LAS1L_uc004dwd.1_Silent_p.P628P|LAS1L_uc004dvy.1_Silent_p.P200P|LAS1L_uc004dvz.1_Silent_p.P200P NM_031206 NP_112483 Q9Y4W2 LAS1L_HUMAN LAS1-like 687 MLL1 complex|nucleolus protein binding ovary(3)|large_intestine(1) 4 TGCATGTTGAGGGTTCCAGCC 0.557 3 24 --- --- --- --- PASS OPHN1 4983 broad.mit.edu 37 X 67432046 67432046 + Silent SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:67432046G>T uc004dww.3 - 8 900 c.606C>A c.(604-606)GCC>GCA p.A202A OPHN1_uc011mpg.1_Silent_p.A202A|OPHN1_uc004dwx.2_Silent_p.A202A NM_002547 NP_002538 O60890 OPHN1_HUMAN oligophrenin 1 202 axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(2) 2 TATGAAGAAAGGCCAAGACCT 0.378 3 38 --- --- --- --- PASS EFNB1 1947 broad.mit.edu 37 X 68058546 68058546 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:68058546C>A uc004dxd.3 + 2 995 c.215C>A c.(214-216)CCC>CAC p.P72H EFNB1_uc004dxe.2_Missense_Mutation_p.P72H NM_004429 NP_004420 P98172 EFNB1_HUMAN ephrin-B1 precursor 72 Extracellular (Potential). cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding 0 GCAGGGCGGCCCTATGAGTAC 0.572 4 28 --- --- --- --- PASS EFNB1 1947 broad.mit.edu 37 X 68058547 68058547 + Silent SNP C T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:68058547C>T uc004dxd.3 + 2 996 c.216C>T c.(214-216)CCC>CCT p.P72P EFNB1_uc004dxe.2_Silent_p.P72P NM_004429 NP_004420 P98172 EFNB1_HUMAN ephrin-B1 precursor 72 Extracellular (Potential). cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding 0 CAGGGCGGCCCTATGAGTACT 0.577 4 29 --- --- --- --- PASS PJA1 64219 broad.mit.edu 37 X 68381405 68381405 + Silent SNP T C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:68381405T>C uc004dxh.2 - 2 1963 c.1677A>G c.(1675-1677)GCA>GCG p.A559A PJA1_uc011mpi.1_Silent_p.A277A|PJA1_uc004dxg.2_Silent_p.A371A|PJA1_uc004dxi.2_Silent_p.A504A NM_145119 NP_660095 Q8NG27 PJA1_HUMAN praja 1 isoform a 559 zinc ion binding 0 CTACATCCACTGCGAGAGACT 0.552 20 125 --- --- --- --- PASS GDPD2 54857 broad.mit.edu 37 X 69649804 69649804 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:69649804C>G uc004dyh.2 + 12 1449 c.1198C>G c.(1198-1200)CGA>GGA p.R400G GDPD2_uc010nky.1_Missense_Mutation_p.N252K|GDPD2_uc011mpk.1_Missense_Mutation_p.R400G|GDPD2_uc011mpl.1_Missense_Mutation_p.R321G|GDPD2_uc011mpm.1_Missense_Mutation_p.R321G NM_017711 NP_060181 Q9HCC8 GDPD2_HUMAN osteoblast differentiation promoting factor 400 GDPD.|Extracellular (Potential). glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding ovary(2) 2 Renal(35;0.156) TAATGTCCAACGACGGGCACC 0.537 9 100 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73064898 73064898 + RNA SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:73064898G>C uc004ebm.1 - 1 c.7691C>G NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 AAAGGGGTCTGAGAGTAGGAC 0.463 5 196 --- --- --- --- PASS ITM2A 9452 broad.mit.edu 37 X 78618612 78618612 + Missense_Mutation SNP A T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:78618612A>T uc004edh.2 - 3 603 c.268T>A c.(268-270)TGC>AGC p.C90S ITM2A_uc011mqr.1_Missense_Mutation_p.C46S NM_004867 NP_004858 O43736 ITM2A_HUMAN integral membrane protein 2A 90 integral to membrane protein binding lung(2) 2 TCAAAAAAGCACATCTCTCCA 0.413 7 45 --- --- --- --- PASS NAP1L3 4675 broad.mit.edu 37 X 92928264 92928264 + Missense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:92928264C>A uc004efq.2 - 1 345 c.40G>T c.(40-42)GCC>TCC p.A14S FAM133A_uc004efr.1_5'Flank NM_004538 NP_004529 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 14 nucleosome assembly chromatin assembly complex ovary(1)|skin(1) 2 ACCCCATGGGCGACAGGTTCC 0.418 20 157 --- --- --- --- PASS CSTF2 1478 broad.mit.edu 37 X 100077295 100077295 + Missense_Mutation SNP C G G TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:100077295C>G uc004egh.2 + 3 251 c.193C>G c.(193-195)CAA>GAA p.Q65E CSTF2_uc010nnd.2_Missense_Mutation_p.Q65E|CSTF2_uc004egi.2_Missense_Mutation_p.Q65E NM_001325 NP_001316 P33240 CSTF2_HUMAN cleavage stimulation factor subunit 2 65 RRM. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|protein binding|RNA binding skin(1) 1 CTGTGAATACCAAGACCAAGA 0.473 11 79 --- --- --- --- PASS GLA 2717 broad.mit.edu 37 X 100653447 100653447 + Missense_Mutation SNP T A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:100653447T>A uc004ehl.1 - 6 1020 c.910A>T c.(910-912)AGC>TGC p.S304C NM_000169 NP_000160 P06280 AGAL_HUMAN alpha-galactosidase A precursor 304 glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process extracellular region|Golgi apparatus|lysosome cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding 0 Agalsidase beta(DB00103) GCTTGAGGGCTGATGTGTCGG 0.498 33 310 --- --- --- --- PASS COL4A5 1287 broad.mit.edu 37 X 107814652 107814652 + Nonsense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:107814652G>T uc004enz.1 + 7 596 c.394G>T c.(394-396)GGA>TGA p.G132* COL4A5_uc011mso.1_Nonsense_Mutation_p.G132* NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 132 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 GGGAGAACGTGGATTTCCAGG 0.363 Alport_syndrome_with_Diffuse_Leiomyomatosis 45 380 --- --- --- --- PASS COL4A5 1287 broad.mit.edu 37 X 107814653 107814653 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:107814653G>T uc004enz.1 + 7 597 c.395G>T c.(394-396)GGA>GTA p.G132V COL4A5_uc011mso.1_Missense_Mutation_p.G132V NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 132 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 GGAGAACGTGGATTTCCAGGC 0.363 Alport_syndrome_with_Diffuse_Leiomyomatosis 45 379 --- --- --- --- PASS GUCY2F 2986 broad.mit.edu 37 X 108619187 108619187 + Nonsense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:108619187C>A uc004eod.3 - 19 3544 c.3268G>T c.(3268-3270)GAG>TAG p.E1090* GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 1090 Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 GCTGCAATCTCCACTGGTTGC 0.502 44 326 --- --- --- --- PASS KIAA1210 57481 broad.mit.edu 37 X 118220627 118220627 + Silent SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:118220627G>T uc004era.3 - 11 4566 c.4566C>A c.(4564-4566)TCC>TCA p.S1522S NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 1522 ovary(4)|skin(1) 5 GGAGCCCCTGGGAAGTGCTTC 0.493 16 104 --- --- --- --- PASS NKRF 55922 broad.mit.edu 37 X 118724761 118724761 + Silent SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:118724761C>A uc004erq.2 - 2 1280 c.627G>T c.(625-627)GCG>GCT p.A209A NKRF_uc004err.2_Silent_p.A209A NM_017544 NP_060014 O15226 NKRF_HUMAN transcription factor NRF 209 Active repression domain. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding ovary(1)|central_nervous_system(1) 2 TTGTCTTACACGCCTGAATAC 0.353 12 100 --- --- --- --- PASS NKRF 55922 broad.mit.edu 37 X 118724823 118724823 + Nonsense_Mutation SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:118724823C>A uc004erq.2 - 2 1218 c.565G>T c.(565-567)GAA>TAA p.E189* NKRF_uc004err.2_Nonsense_Mutation_p.E189* NM_017544 NP_060014 O15226 NKRF_HUMAN transcription factor NRF 189 Active repression domain. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding ovary(1)|central_nervous_system(1) 2 GAAGTCATTTCTGGATTAGAA 0.363 21 142 --- --- --- --- PASS UPF3B 65109 broad.mit.edu 37 X 118979257 118979257 + Missense_Mutation SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:118979257G>T uc004erz.1 - 4 450 c.373C>A c.(373-375)CAG>AAG p.Q125K UPF3B_uc004esa.1_Missense_Mutation_p.Q125K NM_080632 NP_542199 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B 125 Sufficient for association with EJC core.|Necessary for interaction with UPF2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(2)|kidney(1) 3 GGATATTCCTGACCTGTTTAG 0.358 13 114 --- --- --- --- PASS GRIA3 2892 broad.mit.edu 37 X 122598733 122598733 + Silent SNP G T T TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:122598733G>T uc004etq.3 + 14 2387 c.2094G>T c.(2092-2094)GTG>GTT p.V698V GRIA3_uc004etr.3_Silent_p.V698V|GRIA3_uc004ets.3_RNA NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 698 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) AAATTGCTGTGTACGAGAAAA 0.413 20 171 --- --- --- --- PASS SPANXN2 494119 broad.mit.edu 37 X 142795238 142795238 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:142795238G>A uc004fbz.2 - 2 1194 c.440C>T c.(439-441)TCT>TTT p.S147F NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 147 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) CTCCTGTGAAGATCCTTCAGA 0.532 76 628 --- --- --- --- PASS SPANXN2 494119 broad.mit.edu 37 X 142795316 142795316 + Missense_Mutation SNP G A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:142795316G>A uc004fbz.2 - 2 1116 c.362C>T c.(361-363)TCT>TTT p.S121F NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 121 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) CTCCTGTGAAGATCCTTCAGA 0.522 5 423 --- --- --- --- PASS AFF2 2334 broad.mit.edu 37 X 148037249 148037249 + Silent SNP G C C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:148037249G>C uc004fcp.2 + 11 2153 c.1674G>C c.(1672-1674)CTG>CTC p.L558L AFF2_uc004fcq.2_Silent_p.L548L|AFF2_uc004fcr.2_Silent_p.L519L|AFF2_uc011mxb.1_Silent_p.L523L|AFF2_uc004fcs.2_Silent_p.L525L|AFF2_uc011mxc.1_Silent_p.L199L NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 558 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) CTATTTCTCTGCCTCCTCCAA 0.458 79 558 --- --- --- --- PASS VMA21 203547 broad.mit.edu 37 X 150573518 150573518 + Silent SNP C A A TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chrX:150573518C>A uc004feu.2 + 3 370 c.294C>A c.(292-294)GGC>GGA p.G98G NM_001017980 NP_001017980 Q3ZAQ7 VMA21_HUMAN VMA21 vacuolar H+-ATPase homolog 98 vacuolar proton-transporting V-type ATPase complex assembly COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome 0 GGCGTGAAGGCAAACAGGATT 0.423 11 119 --- --- --- --- PASS GDF3 9573 broad.mit.edu 37 12 7848201 7848201 + Frame_Shift_Del DEL G - - TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr12:7848201delG uc001qte.2 - 1 160 c.124delC c.(124-126)CAGfs p.Q42fs NM_020634 NP_065685 Q9NR23 GDF3_HUMAN growth differentiation factor 3 precursor 42 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity skin(3)|ovary(1)|lung(1)|central_nervous_system(1) 6 TGGAACTTCTGGGGTGAAGGC 0.483 87 39 --- --- --- --- PTPRT 11122 broad.mit.edu 37 20 40739003 40739003 + Frame_Shift_Del DEL G - - TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 3b75368a-d57f-4787-a0ef-3f478c7d22bc 1742f2eb-421d-4f74-aa9a-c21380c222cb g.chr20:40739003delG uc002xkg.2 - 23 3408 c.3224delC c.(3223-3225)CCGfs p.P1075fs PTPRT_uc010ggj.2_Frame_Shift_Del_p.P1094fs|PTPRT_uc010ggi.2_Frame_Shift_Del_p.P278fs NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1075 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CCCAGCTTCCGGGGGGTTGAG 0.453 80 41 --- --- --- ---