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 PANK4 55229 broad.mit.edu 37 1 2442178 2442178 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:2442178C>G uc001ajm.1 - 16 1886 c.1877G>C c.(1876-1878)GGA>GCA p.G626A PANK4_uc010nza.1_Missense_Mutation_p.G587A NM_018216 NP_060686 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 626 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1) 3 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GATGTCTATTCCACTGTTATC 0.532 5 145 --- --- --- --- PASS RSC1A1 6248 broad.mit.edu 37 1 15987907 15987907 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:15987907C>T uc010obn.1 + 1 1544 c.1544C>T c.(1543-1545)TCA>TTA p.S515L NM_006511 NP_006502 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, 515 negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity ovary(1) 1 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AAGTCTTTGTCATCCAATTTC 0.418 17 37 --- --- --- --- PASS CROCC 9696 broad.mit.edu 37 1 17272075 17272075 + Missense_Mutation SNP G A A rs2781608 by1000genomes TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:17272075G>A uc001azt.2 + 15 2179 c.2110G>A c.(2110-2112)GCC>ACC p.A704T CROCC_uc009voz.1_Missense_Mutation_p.A467T|CROCC_uc001azu.2_Missense_Mutation_p.A7T NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 704 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GGCCGAGAAGGCCGAGGTGGC 0.657 3 17 --- --- --- --- PASS ATP13A2 23400 broad.mit.edu 37 1 17313556 17313556 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:17313556G>A uc001baa.2 - 26 3258 c.3068C>T c.(3067-3069)ACC>ATC p.T1023I ATP13A2_uc001azz.1_Missense_Mutation_p.T170I|ATP13A2_uc001bab.2_Missense_Mutation_p.T1018I|ATP13A2_uc001bac.2_Missense_Mutation_p.T979I NM_022089 NP_071372 Q9NQ11 AT132_HUMAN ATPase type 13A2 isoform 1 1023 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) CTGGGCCAGGGTCAGGAAGTA 0.687 10 43 --- --- --- --- PASS UBR4 23352 broad.mit.edu 37 1 19447774 19447774 + Silent SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:19447774G>A uc001bbi.2 - 68 10054 c.10050C>T c.(10048-10050)GCC>GCT p.A3350A UBR4_uc001bbk.1_Silent_p.A997A NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3350 Ser-rich. interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CAGCCACAGGGGCTGAGGAGG 0.537 13 88 --- --- --- --- PASS ECE1 1889 broad.mit.edu 37 1 21564678 21564678 + Silent SNP C A A rs141888962 by1000genomes TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:21564678C>A uc001bek.2 - 11 1413 c.1338G>T c.(1336-1338)GCG>GCT p.A446A ECE1_uc001bem.2_Silent_p.A430A|ECE1_uc001bej.2_Silent_p.A434A|ECE1_uc001bei.2_Silent_p.A443A|ECE1_uc010odl.1_Silent_p.A446A|ECE1_uc009vqa.1_Silent_p.A446A NM_001397 NP_001388 P42892 ECE1_HUMAN endothelin converting enzyme 1 isoform 1 446 Extracellular (Potential). bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity ovary(2)|skin(1) 3 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) TGGGGCCCAACGCAAAGCCCA 0.562 9 59 --- --- --- --- PASS ZNF436 80818 broad.mit.edu 37 1 23689283 23689283 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:23689283C>T uc001bgt.2 - 3 973 c.592G>A c.(592-594)GAG>AAG p.E198K ZNF436_uc001bgu.2_Missense_Mutation_p.E198K NM_030634 NP_085137 Q9C0F3 ZN436_HUMAN zinc finger protein 436 198 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) TTCCCACACTCGTTACAGTCA 0.423 31 182 --- --- --- --- PASS DLGAP3 58512 broad.mit.edu 37 1 35332772 35332772 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:35332772C>T uc001byc.2 - 9 2598 c.2598G>A c.(2596-2598)GTG>GTA p.V866V NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 866 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) GGAAGGTGGGCACAGGGAACG 0.562 9 84 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39801303 39801303 + Missense_Mutation SNP A G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:39801303A>G uc010oiu.1 + 1 4494 c.4363A>G c.(4363-4365)AGC>GGC p.S1455G 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 3020 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) CCATATAAAGAGCCAACCTAG 0.373 11 62 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39824465 39824465 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:39824465G>A uc010oiu.1 + 10 7491 c.7360G>A c.(7360-7362)GAG>AAG p.E2454K MACF1_uc010ois.1_Missense_Mutation_p.E1952K|MACF1_uc001cda.1_Missense_Mutation_p.E1860K|MACF1_uc001cdc.1_Missense_Mutation_p.E1039K|MACF1_uc001cdb.1_Missense_Mutation_p.E1039K NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 4019 Spectrin 2. 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) GCAGGCTTGTGAGGCCAACGT 0.512 21 73 --- --- --- --- PASS INADL 10207 broad.mit.edu 37 1 62293228 62293228 + Silent SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:62293228C>A uc001dab.2 + 16 2067 c.1953C>A c.(1951-1953)CGC>CGA p.R651R INADL_uc009waf.1_Silent_p.R651R|INADL_uc001daa.2_Silent_p.R651R|INADL_uc001dad.3_Silent_p.R348R|INADL_uc001dac.2_RNA NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 651 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 AACCAAGGCGCACTGAAACCT 0.458 19 155 --- --- --- --- PASS SNX7 51375 broad.mit.edu 37 1 99157223 99157223 + Missense_Mutation SNP G T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:99157223G>T uc010ouc.1 + 4 659 c.607G>T c.(607-609)GAC>TAC p.D203Y SNX7_uc001dsa.2_Missense_Mutation_p.D139Y|SNX7_uc010oud.1_Intron NM_015976 NP_057060 Q9UNH6 SNX7_HUMAN sorting nexin 7 isoform a 139 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) ATTTAATGAAGACTTCAAAAT 0.338 5 47 --- --- --- --- PASS LPPR5 163404 broad.mit.edu 37 1 99380394 99380394 + Missense_Mutation SNP A G G rs143279943 TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:99380394A>G uc001dsb.2 - 5 1103 c.881T>C c.(880-882)ATG>ACG p.M294T LPPR5_uc001dsc.2_Missense_Mutation_p.M294T NM_001037317 NP_001032394 Q32ZL2 LPPR5_HUMAN phosphatidic acid phosphatase type 2d isoform 1 294 integral to membrane hydrolase activity 0 AATGCTGATCATTGGCATCTG 0.358 20 106 --- --- --- --- PASS CELSR2 1952 broad.mit.edu 37 1 109806324 109806324 + Silent SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:109806324C>G uc001dxa.3 + 9 4987 c.4926C>G c.(4924-4926)CTC>CTG p.L1642L NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 1642 Extracellular (Potential).|Laminin G-like 2. 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) ACCTCAGCCTCATGTTCCGCA 0.662 OREG0013632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 113 --- --- --- --- PASS AMPD2 271 broad.mit.edu 37 1 110170496 110170496 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:110170496C>T uc009wfh.1 + 10 1755 c.1213C>T c.(1213-1215)CCA>TCA p.P405S AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.P324S|AMPD2_uc001dyc.1_Missense_Mutation_p.P405S|AMPD2_uc010ovr.1_Missense_Mutation_p.P330S|AMPD2_uc010ovs.1_Missense_Mutation_p.P287S|AMPD2_uc001dyd.1_Missense_Mutation_p.P286S|AMPD2_uc001dye.1_5'Flank NM_004037 NP_004028 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 (isoform L) 405 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|breast(1) 3 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) GAAGAAAGTGCCACACCGAGA 0.582 4 92 --- --- --- --- PASS TMOD4 29765 broad.mit.edu 37 1 151146054 151146054 + Silent SNP T C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:151146054T>C uc001exc.3 - 4 508 c.318A>G c.(316-318)GCA>GCG p.A106A TMOD4_uc001exb.2_5'Flank|TMOD4_uc001exd.2_RNA|TMOD4_uc010pct.1_Intron NM_013353 NP_037485 Q9NZQ9 TMOD4_HUMAN tropomodulin 4 (muscle) 106 muscle contraction cytoplasm|cytoskeleton actin binding|tropomyosin binding ovary(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TCTGCTCCTCTGCTGGGATTT 0.547 20 150 --- --- --- --- PASS CD244 51744 broad.mit.edu 37 1 160811111 160811111 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:160811111C>G uc009wtq.2 - 3 737 c.559G>C c.(559-561)GAG>CAG p.E187Q CD244_uc001fxa.2_Missense_Mutation_p.E182Q|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Intron|CD244_uc010pjt.1_RNA NM_016382 NP_057466 Q9BZW8 CD244_HUMAN CD244 natural killer cell receptor 2B4 187 Extracellular (Potential).|Ig-like 2. blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TCAACCTCCTCGTCCAGGTAG 0.517 10 187 --- --- --- --- PASS PBX1 5087 broad.mit.edu 37 1 164789349 164789349 + Missense_Mutation SNP G T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:164789349G>T uc001gct.2 + 7 1296 c.1038G>T c.(1036-1038)TTG>TTT p.L346F PBX1_uc010pku.1_Missense_Mutation_p.L346F|PBX1_uc010pkv.1_Missense_Mutation_p.L263F|PBX1_uc001gcs.2_Intron|PBX1_uc010pkw.1_Missense_Mutation_p.L236F NM_002585 NP_002576 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 346 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) soft_tissue(3)|lung(1)|skin(1) 5 CTGGAGATTTGTTCATGAGCG 0.498 T TCF3|EWSR1 pre B-ALL|myoepithelioma 7 86 --- --- --- --- PASS ASTN1 460 broad.mit.edu 37 1 176915252 176915252 + Missense_Mutation SNP T G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:176915252T>G uc001glc.2 - 13 2271 c.2059A>C c.(2059-2061)ATC>CTC p.I687L ASTN1_uc001glb.1_Missense_Mutation_p.I687L|ASTN1_uc001gld.1_Missense_Mutation_p.I687L|ASTN1_uc009wwx.1_Missense_Mutation_p.I687L NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 695 EGF-like 3. cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 TAGTCCTCGATGCACCTAGCA 0.512 7 98 --- --- --- --- PASS RASAL2 9462 broad.mit.edu 37 1 178433416 178433416 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:178433416C>G uc001glr.2 + 13 2958 c.2833C>G c.(2833-2835)CAG>GAG p.Q945E RASAL2_uc001glq.2_Missense_Mutation_p.Q1086E|RASAL2_uc009wxc.2_Missense_Mutation_p.Q459E NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 945 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 GATGCAGGTTCAGTCACCTGT 0.468 11 60 --- --- --- --- PASS TOR1AIP2 163590 broad.mit.edu 37 1 179815858 179815858 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:179815858G>A uc001gnk.2 - 6 1149 c.761C>T c.(760-762)GCC>GTC p.A254V TOR1AIP2_uc001gnl.2_Missense_Mutation_p.A254V NM_145034 NP_659471 Q8NFQ8 TOIP2_HUMAN torsin A interacting protein 2 254 endoplasmic reticulum membrane|integral to membrane protein binding ovary(1) 1 GGCCAAAAAGGCCTCCAAAGC 0.493 35 101 --- --- --- --- PASS SMG7 9887 broad.mit.edu 37 1 183507541 183507541 + Missense_Mutation SNP T A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:183507541T>A uc001gqg.2 + 12 1383 c.1261T>A c.(1261-1263)TTA>ATA p.L421I SMG7_uc010pob.1_Missense_Mutation_p.L450I|SMG7_uc001gqf.2_Missense_Mutation_p.L421I|SMG7_uc001gqh.2_Missense_Mutation_p.L421I|SMG7_uc001gqi.2_Missense_Mutation_p.L379I|SMG7_uc010poc.1_Missense_Mutation_p.L379I NM_173156 NP_775179 Q92540 SMG7_HUMAN SMG-7 homolog isoform 1 421 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 GGAGTTTGAATTACAAGGATT 0.343 39 164 --- --- --- --- PASS PLEKHA6 22874 broad.mit.edu 37 1 204237406 204237406 + Missense_Mutation SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:204237406C>A uc001hau.2 - 4 454 c.137G>T c.(136-138)GGC>GTC p.G46V NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN phosphoinositol 3-phosphate-binding protein-3 46 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) TGAGCGCTTGCCAAAGGCGAC 0.607 7 59 --- --- --- --- PASS DTL 51514 broad.mit.edu 37 1 212273994 212273994 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:212273994G>C uc009xdc.2 + 14 1976 c.1662G>C c.(1660-1662)AGG>AGC p.R554S DTL_uc010ptb.1_Missense_Mutation_p.R512S|DTL_uc001hiz.3_Missense_Mutation_p.R283S NM_016448 NP_057532 Q9NZJ0 DTL_HUMAN denticleless homolog 554 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) TAAAGAGGAGGCTAGACTCAA 0.448 12 111 --- --- --- --- PASS RAB4A 5867 broad.mit.edu 37 1 229424565 229424565 + Missense_Mutation SNP G T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:229424565G>T uc001hth.2 + 3 410 c.202G>T c.(202-204)GAT>TAT p.D68Y RAB4A_uc001hti.2_RNA|RAB4A_uc001htj.2_Intron NM_004578 NP_004569 P20338 RAB4A_HUMAN RAB4A, member RAS oncogene family 63 GTP. GDP binding|GTP binding|GTPase activity ovary(1) 1 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.178) ACAAATATGGGATACAGCAGG 0.254 13 119 --- --- --- --- PASS EXO1 9156 broad.mit.edu 37 1 242042620 242042620 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:242042620G>A uc001hzh.2 + 13 2624 c.2084G>A c.(2083-2085)TGC>TAC p.C695Y EXO1_uc001hzi.2_Missense_Mutation_p.C695Y|EXO1_uc001hzj.2_Missense_Mutation_p.C695Y|EXO1_uc009xgq.2_Missense_Mutation_p.C694Y NM_130398 NP_569082 Q9UQ84 EXO1_HUMAN exonuclease 1 isoform b 695 Interaction with MSH2. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity ovary(2)|lung(2)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) CTTTCTCAGTGCTCTAGTAAG 0.393 Direct_reversal_of_damage|Editing_and_processing_nucleases 9 80 --- --- --- --- PASS OR2M3 127062 broad.mit.edu 37 1 248366988 248366988 + Missense_Mutation SNP A C C rs142664129 TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:248366988A>C uc010pzg.1 + 1 619 c.619A>C c.(619-621)ATT>CTT p.I207L NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, 207 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TATAGTAATGATTGTTTTCCC 0.423 89 254 --- --- --- --- PASS OR2M7 391196 broad.mit.edu 37 1 248487074 248487074 + Missense_Mutation SNP T G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr1:248487074T>G uc010pzk.1 - 1 797 c.797A>C c.(796-798)CAT>CCT p.H266P NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 266 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CATAGGAGAATGATGAGATGT 0.473 18 150 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21230157 21230157 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr2:21230157C>G uc002red.2 - 26 9711 c.9583G>C c.(9583-9585)GAG>CAG p.E3195Q NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3195 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTGATAAACTCACAAAGCACA 0.328 17 54 --- --- --- --- PASS CAPN13 92291 broad.mit.edu 37 2 31010096 31010096 + Silent SNP G T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr2:31010096G>T uc002rnn.2 - 2 272 c.96C>A c.(94-96)GGC>GGA p.G32G CAPN13_uc002rnp.1_Silent_p.G32G NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN calpain 13 32 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity large_intestine(1)|ovary(1) 2 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TAAACGTCCGGCCCATGCTCA 0.527 5 33 --- --- --- --- PASS THUMPD2 80745 broad.mit.edu 37 2 39971520 39971520 + Nonsense_Mutation SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr2:39971520C>A uc002rru.2 - 9 1214 c.1177G>T c.(1177-1179)GAA>TAA p.E393* THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Nonsense_Mutation_p.E284* NM_025264 NP_079540 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 393 methyltransferase activity skin(1) 1 all_hematologic(82;0.248) CTTTCCATTTCTTGTAGAATG 0.313 4 40 --- --- --- --- PASS STON1-GTF2A1L 286749 broad.mit.edu 37 2 48808750 48808750 + Silent SNP A T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr2:48808750A>T uc010yol.1 + 1 1025 c.978A>T c.(976-978)CCA>CCT p.P326P STON1_uc002rwo.3_Silent_p.P326P|STON1_uc010fbm.2_Silent_p.P326P|STON1-GTF2A1L_uc002rwp.1_Silent_p.P326P|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Silent_p.P326P NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 326 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AGCTTGATCCATATTGTAGGC 0.368 16 144 --- --- --- --- PASS XPO1 7514 broad.mit.edu 37 2 61706014 61706014 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr2:61706014G>C uc002sbj.2 - 25 3885 c.3157C>G c.(3157-3159)CAA>GAA p.Q1053E XPO1_uc010fcl.2_Missense_Mutation_p.Q1049E|XPO1_uc010ypn.1_Missense_Mutation_p.Q1049E|XPO1_uc002sbk.2_Missense_Mutation_p.Q614E|XPO1_uc002sbg.2_Missense_Mutation_p.Q250E|XPO1_uc002sbh.2_Missense_Mutation_p.Q700E NM_003400 NP_003391 O14980 XPO1_HUMAN exportin 1 1053 intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) ACAGACATTTGACGTTTATGT 0.388 11 89 --- --- --- --- PASS EGR4 1961 broad.mit.edu 37 2 73519557 73519557 + Silent SNP A G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr2:73519557A>G uc010yrj.1 - 2 873 c.798T>C c.(796-798)CCT>CCC p.P266P EGR4_uc010yrk.1_Silent_p.P265P NM_001965 NP_001956 Q05215 EGR4_HUMAN early growth response 4 162 intracellular nucleic acid binding|zinc ion binding 0 CACCCGCGCAAGGCGAGGCCT 0.726 8 16 --- --- --- --- PASS VWA3B 200403 broad.mit.edu 37 2 98804508 98804508 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr2:98804508G>A uc002syo.2 + 10 1646 c.1382G>A c.(1381-1383)AGC>AAC p.S461N VWA3B_uc010yvh.1_Missense_Mutation_p.S311N|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_Intron|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.2_Missense_Mutation_p.S461N|VWA3B_uc002syn.1_Intron|VWA3B_uc010yvi.1_Missense_Mutation_p.S118N NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 461 ovary(3)|large_intestine(2)|skin(1) 6 AAGGATGGGAGCTTGGTCCAC 0.498 9 91 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125627272 125627272 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr2:125627272C>T uc002tno.2 + 21 3730 c.3366C>T c.(3364-3366)CTC>CTT p.L1122L CNTNAP5_uc010flu.2_Silent_p.L1123L NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 1122 Extracellular (Potential).|Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) AACTTCGACTCAGTTATAACT 0.423 6 41 --- --- --- --- PASS COBLL1 22837 broad.mit.edu 37 2 165542495 165542495 + Silent SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr2:165542495G>C uc010zcw.1 - 17 3787 c.3663C>G c.(3661-3663)CTC>CTG p.L1221L COBLL1_uc002ucp.2_Silent_p.L1154L|COBLL1_uc002ucq.2_Silent_p.L1116L|COBLL1_uc010zcx.1_Silent_p.L1162L|COBLL1_uc002ucn.2_Silent_p.L582L|COBLL1_uc002uco.2_Silent_p.L885L NM_014900 NP_055715 Q53SF7 COBL1_HUMAN COBL-like 1 1192 ovary(2)|pancreas(1) 3 TGGAATGGCTGAGTCTTGACC 0.438 8 82 --- --- --- --- PASS PPIG 9360 broad.mit.edu 37 2 170493071 170493071 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr2:170493071G>A uc002uez.2 + 14 1523 c.1303G>A c.(1303-1305)GAG>AAG p.E435K PPIG_uc010fpx.2_Missense_Mutation_p.E420K|PPIG_uc010fpy.2_Missense_Mutation_p.E428K|PPIG_uc002ufb.2_Missense_Mutation_p.E435K|PPIG_uc002ufd.2_Missense_Mutation_p.E432K NM_004792 NP_004783 Q13427 PPIG_HUMAN peptidylprolyl isomerase G 435 protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|central_nervous_system(1) 3 L-Proline(DB00172) TAACAGCAAAGAGAGAGACAT 0.323 5 45 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179494076 179494076 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr2:179494076G>C uc010zfg.1 - 189 36896 c.36672C>G c.(36670-36672)ATC>ATG p.I12224M TTN_uc010zfh.1_Missense_Mutation_p.I5919M|TTN_uc010zfi.1_Missense_Mutation_p.I5852M|TTN_uc010zfj.1_Missense_Mutation_p.I5727M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13151 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) ATTCCACTGGGATATCTTCGT 0.483 6 67 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179593630 179593630 + Missense_Mutation SNP G T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr2:179593630G>T uc010zfg.1 - 62 15627 c.15403C>A c.(15403-15405)CTT>ATT p.L5135I TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L1796I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6062 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) TGTACTAAAAGGAAAGCATAA 0.393 9 47 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179597601 179597601 + Silent SNP G T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr2:179597601G>T uc010zfg.1 - 52 12794 c.12570C>A c.(12568-12570)TCC>TCA p.S4190S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S851S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5117 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) TGCTTCCCACGGAATTTGTGG 0.423 10 55 --- --- --- --- PASS FZD7 8324 broad.mit.edu 37 2 202900382 202900382 + Missense_Mutation SNP A G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr2:202900382A>G uc002uyw.1 + 1 1073 c.1012A>G c.(1012-1014)ATC>GTC p.I338V NM_003507 NP_003498 O75084 FZD7_HUMAN frizzled 7 precursor 338 Helical; Name=3; (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding skin(2)|ovary(1)|breast(1) 4 GGGCTGCACCATCCTCTTCAT 0.632 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 61 --- --- --- --- PASS VIL1 7429 broad.mit.edu 37 2 219295494 219295494 + Missense_Mutation SNP T G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr2:219295494T>G uc002via.2 + 10 1060 c.995T>G c.(994-996)GTG>GGG p.V332G VIL1_uc010zke.1_Missense_Mutation_p.V21G|VIL1_uc002vib.2_Missense_Mutation_p.V332G|VIL1_uc002vic.1_Missense_Mutation_p.V332G NM_007127 NP_009058 P09327 VILI_HUMAN villin 1 332 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAGGTGGAGGTGCAGAATGAT 0.582 4 66 --- --- --- --- PASS PSMD1 5707 broad.mit.edu 37 2 231927224 231927224 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr2:231927224G>A uc002vrn.1 + 4 270 c.139G>A c.(139-141)GTT>ATT p.V47I PSMD1_uc002vrm.1_Missense_Mutation_p.V47I|PSMD1_uc010fxu.1_Intron NM_002807 NP_002798 Q99460 PSMD1_HUMAN proteasome 26S non-ATPase subunit 1 47 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|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding ovary(1)|skin(1) 2 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) TTTCAGAGAGGTTTTATACGA 0.393 13 84 --- --- --- --- PASS C2orf57 165100 broad.mit.edu 37 2 232458735 232458735 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr2:232458735C>G uc002vrz.2 + 1 1124 c.1073C>G c.(1072-1074)ACC>AGC p.T358S NM_152614 NP_689827 Q53QW1 CB057_HUMAN hypothetical protein LOC165100 358 ovary(1) 1 Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014) CGCACCATCACCCGTGTGCTG 0.687 9 70 --- --- --- --- PASS DGKD 8527 broad.mit.edu 37 2 234366959 234366959 + Missense_Mutation SNP G T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr2:234366959G>T uc002vui.1 + 22 2622 c.2610G>T c.(2608-2610)AAG>AAT p.K870N DGKD_uc002vuj.1_Missense_Mutation_p.K826N|DGKD_uc010fyi.1_RNA NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 870 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|pancreas(1)|lung(1)|skin(1) 5 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) TCGATGACAAGATTCTGGAGG 0.592 8 40 --- --- --- --- PASS CNTN6 27255 broad.mit.edu 37 3 1427380 1427380 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr3:1427380G>A uc003boz.2 + 20 2870 c.2603G>A c.(2602-2604)GGG>GAG p.G868E CNTN6_uc011asj.1_Missense_Mutation_p.G796E|CNTN6_uc003bpa.2_Missense_Mutation_p.G868E NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 868 Fibronectin type-III 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AACATCACGGGGCTGAAAGCT 0.428 28 124 --- --- --- --- PASS KCNH8 131096 broad.mit.edu 37 3 19491639 19491639 + Missense_Mutation SNP A T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr3:19491639A>T uc003cbk.1 + 9 1612 c.1417A>T c.(1417-1419)ATA>TTA p.I473L KCNH8_uc011awe.1_Missense_Mutation_p.I473L|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Missense_Mutation_p.I132L NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 473 Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 GACAGCAATCATACAGAGGAT 0.453 17 66 --- --- --- --- PASS PBRM1 55193 broad.mit.edu 37 3 52682440 52682440 + Missense_Mutation SNP T A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr3:52682440T>A uc003des.2 - 7 745 c.733A>T c.(733-735)ATT>TTT p.I245F PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.I245F|PBRM1_uc003der.2_Missense_Mutation_p.I245F|PBRM1_uc003det.2_Missense_Mutation_p.I245F|PBRM1_uc003deu.2_Missense_Mutation_p.I245F|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.I245F|PBRM1_uc010hmk.1_Missense_Mutation_p.I245F|PBRM1_uc003dey.2_Missense_Mutation_p.I245F|PBRM1_uc003dez.1_Missense_Mutation_p.I245F|PBRM1_uc003dfb.1_Missense_Mutation_p.I143F NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 245 Bromo 2. 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) ATTGCATGAATACTTTTGTAG 0.313 Mis|N|F|S|D|O clear cell renal carcinoma|breast 19 79 --- --- --- --- PASS CBLB 868 broad.mit.edu 37 3 105421219 105421219 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr3:105421219C>T uc003dwc.2 - 12 2000 c.1678G>A c.(1678-1680)GAA>AAA p.E560K CBLB_uc011bhi.1_Missense_Mutation_p.E582K|CBLB_uc003dwd.1_Missense_Mutation_p.E560K|CBLB_uc003dwe.1_Missense_Mutation_p.E560K NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 560 Interaction with VAV1.|Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 GGAGGTCTTTCAGGTGGCGGT 0.483 Mis S AML 10 84 --- --- --- --- PASS KIAA1524 57650 broad.mit.edu 37 3 108288392 108288392 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr3:108288392C>T uc003dxb.3 - 9 1226 c.957G>A c.(955-957)ATG>ATA p.M319I KIAA1524_uc010hpv.1_5'Flank|KIAA1524_uc003dxc.1_Missense_Mutation_p.M160I|KIAA1524_uc010hpw.1_Missense_Mutation_p.M160I NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN p90 autoantigen 319 cytoplasm|integral to membrane protein binding ovary(2)|central_nervous_system(1) 3 GTTCAAACATCATCTGAGTGA 0.443 4 53 --- --- --- --- PASS KIAA2018 205717 broad.mit.edu 37 3 113376876 113376876 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr3:113376876C>T uc003eam.2 - 7 4064 c.3653G>A c.(3652-3654)GGA>GAA p.G1218E KIAA2018_uc003eal.2_Missense_Mutation_p.G1162E NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 1218 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 TGTTTTAATTCCTAGAGAACA 0.418 15 96 --- --- --- --- PASS GTF2E1 2960 broad.mit.edu 37 3 120489615 120489615 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr3:120489615G>C uc003edz.3 + 3 603 c.489G>C c.(487-489)GAG>GAC p.E163D NM_005513 NP_005504 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, 163 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.159) AGGTAGAAGAGGATGAATCAG 0.418 7 237 --- --- --- --- PASS POLQ 10721 broad.mit.edu 37 3 121200502 121200502 + Missense_Mutation SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr3:121200502C>A uc003eee.3 - 19 6257 c.6128G>T c.(6127-6129)CGA>CTA p.R2043L POLQ_uc003eed.2_Missense_Mutation_p.R1215L NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 2043 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity p.G2043S(1) ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TGCTCTGTATCGCCCAGAATG 0.463 DNA_polymerases_(catalytic_subunits) 16 91 --- --- --- --- PASS KALRN 8997 broad.mit.edu 37 3 124132412 124132412 + Silent SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr3:124132412G>A uc003ehg.2 + 14 2563 c.2436G>A c.(2434-2436)CAG>CAA p.Q812Q KALRN_uc010hrv.1_Silent_p.Q812Q|KALRN_uc003ehf.1_Silent_p.Q812Q|KALRN_uc011bjy.1_Silent_p.Q812Q|KALRN_uc003ehh.1_Silent_p.Q158Q NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 812 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 AGCGGCTGCAGCGCCACACAG 0.542 19 54 --- --- --- --- PASS RUVBL1 8607 broad.mit.edu 37 3 127872540 127872540 + Translation_Start_Site SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr3:127872540C>A uc003ekf.2 - 1 218 c.-533G>T c.(-535--531)CAGGC>CATGC EEFSEC_uc003eki.2_Missense_Mutation_p.L64M|EEFSEC_uc003ekj.2_Missense_Mutation_p.L64M NM_003707 NP_003698 Q9Y265 RUVB1_HUMAN RuvB-like 1 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.181) GCCCGCGCGCCTGCGGTCGTC 0.721 3 16 --- --- --- --- PASS DNAJC13 23317 broad.mit.edu 37 3 132201158 132201158 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr3:132201158C>G uc003eor.2 + 27 3028 c.2963C>G c.(2962-2964)CCG>CGG p.P988R NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 988 heat shock protein binding ovary(1)|breast(1) 2 AGGAGTGGCCCGTATGGATTT 0.413 9 40 --- --- --- --- PASS STAG1 10274 broad.mit.edu 37 3 136068192 136068192 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr3:136068192C>T uc003era.1 - 29 3371 c.3079G>A c.(3079-3081)GAG>AAG p.E1027K STAG1_uc003erb.1_Missense_Mutation_p.E1027K NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 1027 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 AGGAATTTCTCTAGGTATGAA 0.403 6 57 --- --- --- --- PASS TM4SF4 7104 broad.mit.edu 37 3 149216522 149216522 + Missense_Mutation SNP G T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr3:149216522G>T uc003exd.1 + 4 646 c.415G>T c.(415-417)GAT>TAT p.D139Y NM_004617 NP_004608 P48230 T4S4_HUMAN transmembrane 4 superfamily member 4 139 Extracellular (Potential). integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TTATCTCAATGATGAGGCCTT 0.448 13 72 --- --- --- --- PASS KCNAB1 7881 broad.mit.edu 37 3 156232996 156232996 + Silent SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr3:156232996C>A uc003far.2 + 10 916 c.852C>A c.(850-852)CTC>CTA p.L284L KCNAB1_uc011bon.1_Silent_p.L255L|KCNAB1_uc003fas.2_Silent_p.L273L|KCNAB1_uc003fat.2_Silent_p.L266L|KCNAB1_uc010hvt.1_Silent_p.L237L|KCNAB1_uc011boo.1_Silent_p.L160L NM_172160 NP_751892 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related 284 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity ovary(3)|skin(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TGCCAGAGCTCTACCACAAAA 0.383 10 84 --- --- --- --- PASS CHRD 8646 broad.mit.edu 37 3 184104631 184104631 + Splice_Site SNP A G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr3:184104631A>G uc003fov.2 + 17 2443 c.2197_splice c.e17-2 p.R733_splice CHRD_uc003fow.2_Splice_Site_p.R363_splice|CHRD_uc003fox.2_Splice_Site_p.R733_splice|CHRD_uc003foy.2_Splice_Site_p.R363_splice|CHRD_uc010hyc.2_Splice_Site_p.R323_splice|CHRD_uc011brr.1_Splice_Site_p.R275_splice NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCCTCTCTGCAGAGACGAACG 0.657 3 67 --- --- --- --- PASS LIPH 200879 broad.mit.edu 37 3 185236980 185236980 + Missense_Mutation SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr3:185236980C>A uc003fpm.2 - 6 946 c.836G>T c.(835-837)GGC>GTC p.G279V LIPH_uc010hyh.2_Missense_Mutation_p.G245V NM_139248 NP_640341 Q8WWY8 LIPH_HUMAN lipase, member H precursor 279 lipid catabolic process extracellular space|plasma membrane heparin binding|phospholipase activity ovary(1)|pancreas(1) 2 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) GACACACTTGCCATTCCTATA 0.488 34 276 --- --- --- --- PASS EVC 2121 broad.mit.edu 37 4 5743447 5743447 + Missense_Mutation SNP T A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr4:5743447T>A uc003gil.1 + 6 891 c.707T>A c.(706-708)TTT>TAT p.F236Y EVC_uc003gim.1_RNA NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 236 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) CAATAGATGTTTATTCAGATT 0.234 9 64 --- --- --- --- PASS PACRGL 133015 broad.mit.edu 37 4 20711365 20711365 + Nonsense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr4:20711365C>G uc010iek.2 + 5 726 c.335C>G c.(334-336)TCA>TGA p.S112* PACRGL_uc003gpu.2_RNA|PACRGL_uc010iei.1_Nonsense_Mutation_p.S160*|PACRGL_uc003gpz.2_Nonsense_Mutation_p.S112*|PACRGL_uc011bxm.1_Intron|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_RNA|PACRGL_uc003gpv.2_Nonsense_Mutation_p.S112*|PACRGL_uc003gpw.2_RNA|PACRGL_uc010iej.1_RNA|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Intron NM_145048 NP_659485 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like isoform 1 112 binding 0 GAAAGTCTTTCATTTGATCCA 0.289 7 112 --- --- --- --- PASS SLC34A2 10568 broad.mit.edu 37 4 25677891 25677891 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr4:25677891C>G uc003grr.2 + 13 1674 c.1593C>G c.(1591-1593)TTC>TTG p.F531L SLC34A2_uc003grs.2_Missense_Mutation_p.F530L|SLC34A2_uc010iev.2_Missense_Mutation_p.F530L NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 531 Helical; Name=M7; (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) TCGCCGTCTTCTACCTGATCA 0.612 24 159 --- --- --- --- PASS NFXL1 152518 broad.mit.edu 37 4 47877170 47877170 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr4:47877170C>G uc010igh.2 - 18 2397 c.2220G>C c.(2218-2220)AAG>AAC p.K740N NFXL1_uc003gxo.2_Missense_Mutation_p.K65N|NFXL1_uc003gxp.2_Missense_Mutation_p.K740N|NFXL1_uc003gxq.3_RNA|NFXL1_uc010igi.2_Missense_Mutation_p.K740N NM_152995 NP_694540 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 740 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 GGCTTGTGATCTTACAGTGAC 0.363 9 63 --- --- --- --- PASS FRYL 285527 broad.mit.edu 37 4 48581237 48581237 + Missense_Mutation SNP T C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr4:48581237T>C uc003gyh.1 - 23 2886 c.2281A>G c.(2281-2283)AGC>GGC p.S761G FRYL_uc003gyk.2_Missense_Mutation_p.S761G NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 TCTATCGAGCTAGGGCAATAG 0.318 6 53 --- --- --- --- PASS TECRL 253017 broad.mit.edu 37 4 65175614 65175614 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr4:65175614C>G uc003hcv.2 - 6 696 c.587G>C c.(586-588)CGA>CCA p.R196P TECRL_uc003hcw.2_Missense_Mutation_p.R196P NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 196 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 CAAAAGGTATCGGATGTAGTG 0.343 26 120 --- --- --- --- PASS UGT2B28 54490 broad.mit.edu 37 4 70156509 70156509 + Silent SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr4:70156509G>A uc003hej.2 + 5 1292 c.1290G>A c.(1288-1290)AAG>AAA p.K430K UGT2B28_uc010ihr.2_Intron NM_053039 NP_444267 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, 430 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Flunitrazepam(DB01544) ATGCACTGAAGACAGTAATTA 0.418 35 135 --- --- --- --- PASS UGT2B4 7363 broad.mit.edu 37 4 70361034 70361034 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr4:70361034C>G uc003hek.3 - 1 593 c.546G>C c.(544-546)AAG>AAC p.K182N UGT2B4_uc011cap.1_Missense_Mutation_p.K46N|UGT2B4_uc003hel.3_Missense_Mutation_p.K182N NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 182 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 CTCCACTATGCTTTTCAATTG 0.443 6 55 --- --- --- --- PASS SEC31A 22872 broad.mit.edu 37 4 83778220 83778220 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr4:83778220C>G uc003hnf.2 - 16 1930 c.1766G>C c.(1765-1767)TGT>TCT p.C589S SEC31A_uc003hne.2_Missense_Mutation_p.C322S|SEC31A_uc011ccl.1_Missense_Mutation_p.C550S|SEC31A_uc003hnl.2_Missense_Mutation_p.C550S|SEC31A_uc003hng.2_Missense_Mutation_p.C589S|SEC31A_uc003hnh.2_Missense_Mutation_p.C589S|SEC31A_uc003hni.2_Missense_Mutation_p.C589S|SEC31A_uc003hnj.2_Missense_Mutation_p.C550S|SEC31A_uc011ccm.1_Missense_Mutation_p.C584S|SEC31A_uc011ccn.1_Missense_Mutation_p.C589S|SEC31A_uc003hnk.2_Missense_Mutation_p.C550S|SEC31A_uc003hnm.2_Missense_Mutation_p.C589S|SEC31A_uc003hnn.1_Missense_Mutation_p.C589S NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 589 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) ATCATGTAAACAAAGGTCAAC 0.408 6 56 --- --- --- --- PASS GRID2 2895 broad.mit.edu 37 4 94344073 94344073 + Missense_Mutation SNP A C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr4:94344073A>C uc011cdt.1 + 10 1757 c.1499A>C c.(1498-1500)CAA>CCA p.Q500P GRID2_uc011cdu.1_Missense_Mutation_p.Q405P NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 500 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) GGAAGCCCACAAGAAGATGGG 0.383 8 50 --- --- --- --- PASS CENPE 1062 broad.mit.edu 37 4 104066284 104066284 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr4:104066284C>T uc003hxb.1 - 32 4870 c.4780G>A c.(4780-4782)GAA>AAA p.E1594K CENPE_uc003hxc.1_Missense_Mutation_p.E1569K NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 1594 Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) CTTTTCATTTCCTCTTTTTCC 0.343 19 83 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123165066 123165066 + Missense_Mutation SNP A T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr4:123165066A>T uc003ieh.2 + 29 4845 c.4800A>T c.(4798-4800)TTA>TTT p.L1600F KIAA1109_uc003iek.2_Missense_Mutation_p.L219F NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1600 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 ATGAAACATTAACAGAAGAGT 0.393 15 85 --- --- --- --- PASS TBC1D9 23158 broad.mit.edu 37 4 141543624 141543624 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr4:141543624C>T uc010ioj.2 - 21 3798 c.3526G>A c.(3526-3528)GAC>AAC p.D1176N NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 1176 intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) TGCAGCTTGTCCTCCTCGTGG 0.667 4 51 --- --- --- --- PASS TLR2 7097 broad.mit.edu 37 4 154624935 154624935 + Silent SNP T C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr4:154624935T>C uc003inq.2 + 3 1095 c.876T>C c.(874-876)GTT>GTC p.V292V TLR2_uc003inr.2_Silent_p.V292V|TLR2_uc003ins.2_Silent_p.V292V NM_003264 NP_003255 O60603 TLR2_HUMAN toll-like receptor 2 precursor 292 Extracellular (Potential). cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding ovary(1)|lung(1)|breast(1) 3 all_hematologic(180;0.093) Renal(120;0.117) TTAATGGAGTTGGTAATTTTA 0.343 17 90 --- --- --- --- PASS PLRG1 5356 broad.mit.edu 37 4 155467273 155467273 + Splice_Site SNP A T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr4:155467273A>T uc003iny.2 - 5 467 c.404_splice c.e5+1 p.K135_splice PLRG1_uc003inz.2_Splice_Site_p.K126_splice|PLRG1_uc011cil.1_Intron NM_002669 NP_002660 O43660 PLRG1_HUMAN pleiotropic regulator 1 (PRL1 homolog, catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity 0 all_hematologic(180;0.215) Renal(120;0.0854) AATATTTCATACTTGGTCTGC 0.318 8 58 --- --- --- --- PASS NPY5R 4889 broad.mit.edu 37 4 164271506 164271506 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr4:164271506C>T uc003iqn.2 + 4 263 c.81C>T c.(79-81)TTC>TTT p.F27F NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 27 Extracellular (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) ATTCTGATTTCCCAGTCTGGG 0.393 6 85 --- --- --- --- PASS SLC9A3 6550 broad.mit.edu 37 5 484789 484789 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr5:484789C>G uc003jbe.2 - 5 890 c.778G>C c.(778-780)GGG>CGG p.G260R SLC9A3_uc011clx.1_Missense_Mutation_p.G260R NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 260 Helical; Name=H/M6; (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) AGCGTGCCCCCCAGGCTCACC 0.662 10 147 --- --- --- --- PASS ZNF622 90441 broad.mit.edu 37 5 16465211 16465211 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr5:16465211C>T uc003jfq.2 - 1 684 c.564G>A c.(562-564)AAG>AAA p.K188K NM_033414 NP_219482 Q969S3 ZN622_HUMAN zinc finger protein 622 188 cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 TTGCCAACTTCTTCGCCTGCT 0.622 27 416 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19473700 19473700 + Missense_Mutation SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr5:19473700C>A uc003jgc.2 - 12 2385 c.2008G>T c.(2008-2010)GCC>TCC p.A670S CDH18_uc003jgd.2_Missense_Mutation_p.A670S|CDH18_uc011cnm.1_3'UTR NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 670 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) ATGTCAAAGGCCTCTGTGTCT 0.522 202 165 --- --- --- --- PASS CARD6 84674 broad.mit.edu 37 5 40841657 40841657 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr5:40841657G>C uc003jmg.2 + 1 248 c.173G>C c.(172-174)CGG>CCG p.R58P NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 58 CARD. apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 AAGAAAAGTCGGAAGCTGTTA 0.428 20 190 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41176712 41176712 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr5:41176712G>C uc003jmk.2 - 8 1243 c.1033C>G c.(1033-1035)CTG>GTG p.L345V C6_uc003jml.1_Missense_Mutation_p.L345V NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 345 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TCTAGAGGCAGATGGTTAAGT 0.408 13 127 --- --- --- --- PASS BDP1 55814 broad.mit.edu 37 5 70757692 70757692 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr5:70757692G>C uc003kbp.1 + 3 801 c.538G>C c.(538-540)GAT>CAT p.D180H BDP1_uc003kbn.1_Missense_Mutation_p.D180H|BDP1_uc003kbo.2_Missense_Mutation_p.D180H NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 180 Interaction with ZBTB43. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) GAGGCCACCAGATCGTTCAAA 0.279 4 130 --- --- --- --- PASS CARTPT 9607 broad.mit.edu 37 5 71015177 71015177 + Missense_Mutation SNP G T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr5:71015177G>T uc003kbv.1 + 1 184 c.57G>T c.(55-57)ATG>ATT p.M19I NM_004291 NP_004282 Q16568 CART_HUMAN cocaine- and amphetamine-regulated transcript 19 activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission extracellular space ovary(1) 1 Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;8.4e-56) Amphetamine(DB00182) TGCTGCTGATGCTACCTCTGT 0.667 4 72 --- --- --- --- PASS APC 324 broad.mit.edu 37 5 112174552 112174552 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr5:112174552C>T uc010jby.2 + 16 3641 c.3261C>T c.(3259-3261)CTC>CTT p.L1087L APC_uc011cvt.1_Silent_p.L1069L|APC_uc003kpz.3_Silent_p.L1087L|APC_uc003kpy.3_Silent_p.L1087L|APC_uc010jbz.2_Silent_p.L804L|APC_uc010jca.2_Silent_p.L387L NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1087 Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) ATAAACACCTCAAGTTCCAAC 0.388 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 3 56 --- --- --- --- PASS PCDHGA8 9708 broad.mit.edu 37 5 140773546 140773546 + Missense_Mutation SNP A T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr5:140773546A>T uc003lkd.1 + 1 2064 c.1166A>T c.(1165-1167)AAT>ATT p.N389I 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_uc003lkb.3_Missense_Mutation_p.N389I NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 389 Cadherin 4.|Extracellular (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) ACACGTGATAATTTACCTTTT 0.353 6 38 --- --- --- --- PASS GRIA1 2890 broad.mit.edu 37 5 152873579 152873579 + Missense_Mutation SNP G T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr5:152873579G>T uc003lva.3 + 2 539 c.174G>T c.(172-174)CAG>CAT p.Q58H GRIA1_uc003luy.3_Missense_Mutation_p.Q58H|GRIA1_uc003luz.3_5'UTR|GRIA1_uc011dcv.1_Intron|GRIA1_uc011dcw.1_Missense_Mutation_p.Q58H|GRIA1_uc011dcx.1_5'UTR|GRIA1_uc011dcy.1_Missense_Mutation_p.Q68H|GRIA1_uc011dcz.1_Missense_Mutation_p.Q68H|GRIA1_uc010jia.1_Missense_Mutation_p.Q38H NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 58 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGCTCCCCCAGATTGATATTG 0.443 22 116 --- --- --- --- PASS C5orf4 10826 broad.mit.edu 37 5 154202038 154202038 + Missense_Mutation SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr5:154202038C>A uc003lvs.3 - 7 843 c.672G>T c.(670-672)GAG>GAT p.E224D C5orf4_uc003lvq.2_5'Flank|C5orf4_uc003lvr.2_5'Flank|C5orf4_uc011dde.1_Missense_Mutation_p.E201D NM_032385 NP_115761 Q96IV6 CE004_HUMAN hypothetical protein LOC10826 224 Helical; (Potential). fatty acid biosynthetic process integral to membrane iron ion binding|oxidoreductase activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TCACTGCATGCTCTATAGGGT 0.537 16 166 --- --- --- --- PASS ATP10B 23120 broad.mit.edu 37 5 160047859 160047859 + Silent SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr5:160047859G>A uc003lym.1 - 15 2758 c.1911C>T c.(1909-1911)TTC>TTT p.F637F ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Silent_p.F195F NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 637 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGTGGATGAGAATGACTGGC 0.552 21 179 --- --- --- --- PASS WWC1 23286 broad.mit.edu 37 5 167850747 167850747 + Nonsense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr5:167850747C>G uc003lzu.2 + 11 1577 c.1484C>G c.(1483-1485)TCA>TGA p.S495* WWC1_uc003lzv.2_Nonsense_Mutation_p.S495*|WWC1_uc011den.1_Nonsense_Mutation_p.S495*|WWC1_uc003lzw.2_Nonsense_Mutation_p.S294* NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 495 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) TTCCGGCCCTCAGGCTGCATC 0.632 13 70 --- --- --- --- PASS HIST1H2AG 8969 broad.mit.edu 37 6 27100914 27100914 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr6:27100914G>C uc003niw.2 + 1 98 c.64G>C c.(64-66)GCC>CCC p.A22P HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank NM_021064 NP_066408 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 22 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding 0 CTCTTCTAGGGCCGGTCTCCA 0.647 13 42 --- --- --- --- PASS OR2B2 81697 broad.mit.edu 37 6 27879783 27879783 + Silent SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr6:27879783C>A uc011dkw.1 - 1 315 c.315G>T c.(313-315)CTG>CTT p.L105L NM_033057 NP_149046 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, 105 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AACCCAAGGCCAGGAAAATGA 0.453 5 75 --- --- --- --- PASS HLA-A 3105 broad.mit.edu 37 6 29911061 29911061 + Missense_Mutation SNP G C C rs41550512 TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr6:29911061G>C uc003nol.2 + 3 360 c.360G>C c.(358-360)CAG>CAC p.Q120H HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_RNA|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.Q120H|HLA-A_uc003noo.2_Missense_Mutation_p.Q120H|HLA-A_uc010jrr.2_Missense_Mutation_p.Q120H|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Q92H|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 120 Extracellular (Potential).|Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 ACACCATCCAGATAATGTATG 0.662 Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 4 8 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32020577 32020577 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr6:32020577C>T uc003nzl.2 - 26 9181 c.8979G>A c.(8977-8979)GTG>GTA p.V2993V NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3040 Fibronectin type-III 22. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TGACACGCACCACCTGGGGCC 0.677 7 59 --- --- --- --- PASS CLPS 1208 broad.mit.edu 37 6 35765000 35765000 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr6:35765000C>T uc003ole.1 - 1 103 c.66G>A c.(64-66)CGG>CGA p.R22R CLPS_uc003olf.1_Silent_p.R22R NM_001832 NP_001823 P04118 COL_HUMAN colipase preproprotein 22 lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process extracellular region 0 TAATGATCCCCCGGGGGCCAG 0.592 5 106 --- --- --- --- PASS DAAM2 23500 broad.mit.edu 37 6 39835470 39835470 + Missense_Mutation SNP G T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr6:39835470G>T uc003oow.2 + 6 769 c.613G>T c.(613-615)GCC>TCC p.A205S DAAM2_uc010jxc.2_Missense_Mutation_p.A205S|DAAM2_uc003oox.2_Missense_Mutation_p.A205S NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 205 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) TAGTACCATAGCCCAGAGCCT 0.582 5 71 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 69949088 69949088 + Silent SNP A T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr6:69949088A>T uc003pev.3 + 20 3232 c.2784A>T c.(2782-2784)ATA>ATT p.I928I BAI3_uc010kak.2_Silent_p.I928I|BAI3_uc011dxx.1_Silent_p.I134I|BAI3_uc003pex.1_Silent_p.I58I NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 928 Helical; Name=2; (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) ATATCCTCATACTGGTTGGAC 0.348 31 152 --- --- --- --- PASS DDX43 55510 broad.mit.edu 37 6 74124385 74124385 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr6:74124385G>A uc003pgw.2 + 14 2065 c.1721G>A c.(1720-1722)CGA>CAA p.R574Q NM_018665 NP_061135 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 574 Helicase C-terminal. intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 TACGTACACCGAATAGGGCGC 0.433 8 67 --- --- --- --- PASS TRAF3IP2 10758 broad.mit.edu 37 6 111901417 111901417 + Silent SNP C A A rs117922343 by1000genomes TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr6:111901417C>A uc011ebc.1 - 4 1620 c.1005G>T c.(1003-1005)CCG>CCT p.P335P TRAF3IP2_uc003pvg.2_Silent_p.P335P|TRAF3IP2_uc003pvf.2_Silent_p.P335P|TRAF3IP2_uc010kdw.2_Silent_p.P335P|TRAF3IP2_uc010kdx.2_Silent_p.P335P NM_147686 NP_679211 O43734 CIKS_HUMAN TRAF3 interacting protein 2 isoform 2 344 intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular ovary(2)|central_nervous_system(1) 3 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) TTGGAAGCCCCGGAAAGGAGC 0.512 3 36 --- --- --- --- PASS GJA1 2697 broad.mit.edu 37 6 121768672 121768672 + Nonsense_Mutation SNP G T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr6:121768672G>T uc003pyr.2 + 2 929 c.679G>T c.(679-681)GAA>TAA p.E227* GJA1_uc011ebo.1_Nonsense_Mutation_p.E128*|GJA1_uc011ebp.1_Nonsense_Mutation_p.E15* NM_000165 NP_000156 P17302 CXA1_HUMAN connexin 43 227 Helical; (Potential). cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity ovary(2) 2 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) GAATATCATTGAACTCTTCTA 0.512 30 166 --- --- --- --- PASS LAMA2 3908 broad.mit.edu 37 6 129513971 129513971 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr6:129513971C>T uc003qbn.2 + 12 1860 c.1755C>T c.(1753-1755)AGC>AGT p.S585S LAMA2_uc003qbo.2_Silent_p.S585S NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 585 Laminin IV type A 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) ACTACTGGAGCGCGCCGGCTC 0.552 7 46 --- --- --- --- PASS BCLAF1 9774 broad.mit.edu 37 6 136597477 136597477 + Missense_Mutation SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr6:136597477C>A uc003qgx.1 - 5 1439 c.1186G>T c.(1186-1188)GAT>TAT p.D396Y BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Missense_Mutation_p.D394Y|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.D394Y NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 396 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CCTTCTGAATCATTAAACTTT 0.443 25 554 --- --- --- --- PASS HECA 51696 broad.mit.edu 37 6 139487474 139487474 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr6:139487474G>C uc003qin.2 + 2 610 c.325G>C c.(325-327)GAG>CAG p.E109Q NM_016217 NP_057301 Q9UBI9 HDC_HUMAN headcase 109 respiratory tube development 0 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) GGTGGACCTGGAGAAGGACGA 0.517 5 168 --- --- --- --- PASS VTA1 51534 broad.mit.edu 37 6 142487437 142487437 + Missense_Mutation SNP A G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr6:142487437A>G uc003qiw.2 + 2 200 c.185A>G c.(184-186)AAG>AGG p.K62R VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_Intron NM_016485 NP_057569 Q9NP79 VTA1_HUMAN Vps20-associated 1 homolog 62 Interaction with CHMP5.|Interaction with IST1. cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding 0 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) TTTTTATCAAAGTTAATGGAT 0.323 23 65 --- --- --- --- PASS C6orf97 80129 broad.mit.edu 37 6 151914290 151914290 + Missense_Mutation SNP A T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr6:151914290A>T uc003qol.2 + 8 1431 c.1342A>T c.(1342-1344)ATG>TTG p.M448L NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 448 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) GTTGGACCAGATGGCTGCCGA 0.433 24 48 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152763321 152763321 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr6:152763321C>T uc010kiw.2 - 31 4499 c.3897G>A c.(3895-3897)GCG>GCA p.A1299A SYNE1_uc003qot.3_Silent_p.A1306A|SYNE1_uc003qou.3_Silent_p.A1299A|SYNE1_uc010kjb.1_Silent_p.A1282A|SYNE1_uc003qow.2_Silent_p.A594A|SYNE1_uc003qox.1_Silent_p.A815A NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1299 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTCCCTGCTGCGCCTGCGCGA 0.567 HNSCC(10;0.0054) 12 91 --- --- --- --- PASS TFB1M 51106 broad.mit.edu 37 6 155632376 155632376 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr6:155632376G>C uc003qqj.3 - 2 295 c.231C>G c.(229-231)GAC>GAG p.D77E TFB1M_uc003qqk.2_Intron NM_016020 NP_057104 Q8WVM0 TFB1M_HUMAN transcription factor B1, mitochondrial 77 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity skin(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131) GTTCAGCGACGTCGGCATTAA 0.433 28 73 --- --- --- --- PASS PDCD2 5134 broad.mit.edu 37 6 170892822 170892822 + Missense_Mutation SNP T G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr6:170892822T>G uc003qxw.2 - 2 376 c.297A>C c.(295-297)CAA>CAC p.Q99H PDCD2_uc003qxv.2_Missense_Mutation_p.Q66H|PDCD2_uc003qxx.1_Missense_Mutation_p.Q99H|PDCD2_uc003qxy.2_Missense_Mutation_p.Q66H|PDCD2_uc003qxz.2_Missense_Mutation_p.Q99H|PDCD2_uc003qya.2_Missense_Mutation_p.Q66H|PDCD2_uc003qyb.1_Intron NM_002598 NP_002589 Q16342 PDCD2_HUMAN programmed cell death 2 isoform 1 99 apoptosis cytoplasm|nucleus DNA binding|protein binding|zinc ion binding 0 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142) TCCTGGGTAGTTGATTCCTAA 0.368 6 52 --- --- --- --- PASS SDK1 221935 broad.mit.edu 37 7 4249744 4249744 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr7:4249744G>A uc003smx.2 + 38 5628 c.5489G>A c.(5488-5490)GGC>GAC p.G1830D SDK1_uc010kso.2_Missense_Mutation_p.G1086D|SDK1_uc003smy.2_Missense_Mutation_p.G317D NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1830 Fibronectin type-III 12. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GCGGCCAACGGCATCCTGCAG 0.652 8 94 --- --- --- --- PASS DFNA5 1687 broad.mit.edu 37 7 24784198 24784198 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr7:24784198G>C uc010kus.1 - 3 475 c.387C>G c.(385-387)ATC>ATG p.I129M DFNA5_uc003swz.2_Translation_Start_Site|DFNA5_uc003sxa.1_Missense_Mutation_p.I129M|DFNA5_uc010kut.1_Translation_Start_Site|DFNA5_uc003sxb.2_Missense_Mutation_p.I129M|DFNA5_uc003sxc.2_Missense_Mutation_p.I129M NM_001127453 NP_001120925 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 protein isoform 129 sensory perception of sound ovary(1) 1 CAGAGTCTCTGATGAGCTGCT 0.502 9 154 --- --- --- --- PASS AVL9 23080 broad.mit.edu 37 7 32612988 32612988 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr7:32612988G>C uc003tcv.1 + 12 1674 c.1528G>C c.(1528-1530)GCG>CCG p.A510P AVL9_uc011kai.1_Intron|AVL9_uc010kwj.1_Missense_Mutation_p.A351P NM_015060 NP_055875 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 510 integral to membrane 0 GGCCCAGTTTGCGGTCTACAT 0.507 19 118 --- --- --- --- PASS TBX20 57057 broad.mit.edu 37 7 35284591 35284591 + Silent SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr7:35284591G>A uc011kas.1 - 4 635 c.624C>T c.(622-624)CTC>CTT p.L208L NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN T-box transcription factor TBX20 208 T-box. nucleus DNA binding central_nervous_system(1) 1 CATTGTTGGTGAGTTTCACCT 0.443 6 50 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48545964 48545964 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr7:48545964G>A uc003toq.2 + 49 13349 c.13324G>A c.(13324-13326)GCC>ACC p.A4442T ABCA13_uc010kys.1_Missense_Mutation_p.A1517T|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.A172T NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4442 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ATATGGAGGGGCCTTGCTGAA 0.468 42 69 --- --- --- --- PASS TYW1 55253 broad.mit.edu 37 7 66548450 66548450 + Silent SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr7:66548450G>A uc003tvn.2 + 11 1457 c.1308G>A c.(1306-1308)CGG>CGA p.R436R TYW1_uc010lai.2_RNA|TYW1_uc011kef.1_Silent_p.R50R NM_018264 NP_060734 Q9NV66 TYW1_HUMAN radical S-adenosyl methionine and flavodoxin 436 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity skin(1) 1 Lung NSC(55;0.0846)|all_lung(88;0.183) CTGAGTGGCGGTGGAAGATGG 0.438 21 102 --- --- --- --- PASS GRM3 2913 broad.mit.edu 37 7 86479854 86479854 + Missense_Mutation SNP T G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr7:86479854T>G uc003uid.2 + 5 3659 c.2560T>G c.(2560-2562)TCT>GCT p.S854A GRM3_uc010lef.2_Missense_Mutation_p.L496R|GRM3_uc010leg.2_Missense_Mutation_p.S726A|GRM3_uc010leh.2_Missense_Mutation_p.S446A NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 854 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GACCACATACTCTCAGTGTAA 0.478 17 110 --- --- --- --- PASS MLL5 55904 broad.mit.edu 37 7 104752933 104752933 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr7:104752933C>T uc003vcm.2 + 27 5264 c.4730C>T c.(4729-4731)TCT>TTT p.S1577F MLL5_uc010ljc.2_Missense_Mutation_p.S1577F|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.S311F NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 1577 Pro-rich. cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 GGTAGTCTTTCTCAACAAACT 0.478 15 98 --- --- --- --- PASS MKLN1 4289 broad.mit.edu 37 7 131128447 131128447 + Missense_Mutation SNP A T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr7:131128447A>T uc011kpm.1 + 11 1445 c.1381A>T c.(1381-1383)ATG>TTG p.M461L MKLN1_uc011kpl.1_Missense_Mutation_p.M438L|MKLN1_uc010lmh.2_Missense_Mutation_p.M461L|MKLN1_uc003vqs.2_Missense_Mutation_p.M254L NM_013255 NP_037387 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing 461 signal transduction cytoplasm protein binding breast(1) 1 Melanoma(18;0.162) AGGACACTGCATGTTATTCCA 0.398 20 62 --- --- --- --- PASS NUP205 23165 broad.mit.edu 37 7 135258457 135258457 + Missense_Mutation SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr7:135258457C>A uc003vsw.2 + 3 258 c.227C>A c.(226-228)GCC>GAC p.A76D NUP205_uc011kqa.1_RNA NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 76 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 GAGGGAGTCGCCATTCAGGGT 0.403 3 49 --- --- --- --- PASS CLCN1 1180 broad.mit.edu 37 7 143028687 143028687 + Missense_Mutation SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr7:143028687C>A uc003wcr.1 + 10 1195 c.1108C>A c.(1108-1110)CGC>AGC p.R370S CLCN1_uc011ktc.1_Missense_Mutation_p.R32S NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 370 Helical; (By similarity). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) GTATCTGCATCGCCAAGTCAT 0.478 4 79 --- --- --- --- PASS VIPR2 7434 broad.mit.edu 37 7 158835748 158835748 + Missense_Mutation SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr7:158835748C>A uc003woh.2 - 6 761 c.575G>T c.(574-576)TGC>TTC p.C192F VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA NM_003382 NP_003373 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 192 Extracellular (Potential). cell-cell signaling integral to plasma membrane lung(1)|central_nervous_system(1) 2 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CTGGTCAGGGCAGTGCAACGT 0.552 6 29 --- --- --- --- PASS SLC18A1 6570 broad.mit.edu 37 8 20007193 20007193 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr8:20007193C>T uc011kyq.1 - 13 1611 c.1140G>A c.(1138-1140)TTG>TTA p.L380L SLC18A1_uc003wzl.2_Silent_p.L167L|SLC18A1_uc003wzm.2_Silent_p.L380L|SLC18A1_uc011kyr.1_Silent_p.L380L|SLC18A1_uc003wzn.2_Silent_p.L348L|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Silent_p.L348L NM_001135691 NP_001129163 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine), 380 Helical; (Potential). neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity ovary(2) 2 Colorectal(74;0.0747) TTACACAGAGCAAGCTGGTAC 0.363 6 33 --- --- --- --- PASS RAB11FIP1 80223 broad.mit.edu 37 8 37728907 37728907 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr8:37728907C>G uc003xkm.1 - 4 3457 c.3413G>C c.(3412-3414)AGA>ACA p.R1138T RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.R467T|RAB11FIP1_uc003xko.1_Missense_Mutation_p.R467T|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 1138 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) ATTTTCAACTCTACCAGCGGA 0.552 OREG0018713 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 188 --- --- --- --- PASS ZMAT4 79698 broad.mit.edu 37 8 40554884 40554884 + Missense_Mutation SNP A T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr8:40554884A>T uc003xnr.2 - 4 375 c.229T>A c.(229-231)TGC>AGC p.C77S ZMAT4_uc003xns.2_Missense_Mutation_p.C77S NM_024645 NP_078921 Q9H898 ZMAT4_HUMAN zinc finger, matrin type 4 isoform a 77 Matrin-type 2. nucleus DNA binding|zinc ion binding pancreas(1)|central_nervous_system(1)|skin(1) 3 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) CAGAGTGTGCAGCACTTGTTC 0.478 13 93 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52321164 52321164 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr8:52321164G>A uc003xqu.3 - 17 3121 c.3020C>T c.(3019-3021)GCG>GTG p.A1007V PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1007 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CTGCAGCTCCGCGCCCACGAT 0.622 6 17 --- --- --- --- PASS DPYS 1807 broad.mit.edu 37 8 105456559 105456559 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr8:105456559G>C uc003yly.3 - 4 839 c.710C>G c.(709-711)GCC>GGC p.A237G NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 237 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CACAGCGCTGGCTATGGTGAT 0.547 22 52 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113564842 113564842 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr8:113564842C>T uc003ynu.2 - 26 4501 c.4342G>A c.(4342-4344)GAT>AAT p.D1448N CSMD3_uc003yns.2_Missense_Mutation_p.D720N|CSMD3_uc003ynt.2_Missense_Mutation_p.D1408N|CSMD3_uc011lhx.1_Missense_Mutation_p.D1344N NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1448 Extracellular (Potential).|CUB 8. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TTTCCAGGATCTACCTCAATC 0.363 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 59 --- --- --- --- PASS COL14A1 7373 broad.mit.edu 37 8 121256238 121256238 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr8:121256238G>A uc003yox.2 + 20 2735 c.2470G>A c.(2470-2472)GGA>AGA p.G824R COL14A1_uc003yoy.2_Missense_Mutation_p.G502R NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 824 Fibronectin type-III 6. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CTCCGCTCCTGGAAAAACCTG 0.448 22 159 --- --- --- --- PASS RECQL4 9401 broad.mit.edu 37 8 145738752 145738752 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr8:145738752G>A uc003zdj.2 - 15 2344 c.2312C>T c.(2311-2313)ACG>ATG p.T771M NM_004260 NP_004251 O94761 RECQ4_HUMAN RecQ protein-like 4 771 Helicase C-terminal. DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|lung(1)|skin(1) 4 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) AAAGGCCACCGTGGCCACCAC 0.697 N|F|S osteosarcoma|skin basal and sqamous cell Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome 3 40 --- --- --- --- PASS RANBP6 26953 broad.mit.edu 37 9 6015178 6015178 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr9:6015178G>C uc003zjr.2 - 1 441 c.430C>G c.(430-432)CTT>GTT p.L144V RANBP6_uc011lmf.1_Intron|RANBP6_uc003zjs.2_Intron NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 144 protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) GAATCAATAAGAAACTTCAGA 0.438 8 53 --- --- --- --- PASS NFIB 4781 broad.mit.edu 37 9 14307521 14307521 + Splice_Site SNP T C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr9:14307521T>C uc003zle.2 - 2 466 c.31_splice c.e2-1 p.D11_splice NFIB_uc003zlf.2_Splice_Site_p.D11_splice|NFIB_uc011lmo.1_Splice_Site_p.D11_splice NM_005596 NP_005587 O00712 NFIB_HUMAN nuclear factor I/B anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity 0 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) AAATTCATCCTGTGGAAGACA 0.408 T MYB|HGMA2 adenoid cystic carcinoma|lipoma 16 41 --- --- --- --- PASS HAUS6 54801 broad.mit.edu 37 9 19063106 19063106 + Nonsense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr9:19063106G>C uc003znk.2 - 14 1782 c.1529C>G c.(1528-1530)TCA>TGA p.S510* HAUS6_uc011lmz.1_Nonsense_Mutation_p.S230*|HAUS6_uc003znl.1_Nonsense_Mutation_p.S374*|HAUS6_uc003znm.1_Nonsense_Mutation_p.S265* NM_017645 NP_060115 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 510 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle ovary(2) 2 TGCAACATCTGATAATGGAGA 0.363 10 98 --- --- --- --- PASS SLC24A2 25769 broad.mit.edu 37 9 19786143 19786143 + Missense_Mutation SNP T C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr9:19786143T>C uc003zoa.1 - 1 784 c.722A>G c.(721-723)GAT>GGT p.D241G SLC24A2_uc003zob.1_Missense_Mutation_p.D241G NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 241 Cytoplasmic (Potential). visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) GAAAGACACATCTCGAAAGAG 0.388 26 47 --- --- --- --- PASS PRSS3 5646 broad.mit.edu 37 9 33796728 33796728 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr9:33796728C>G uc003ztj.3 + 2 299 c.299C>G c.(298-300)TCT>TGT p.S100C uc003ztk.1_Intron|PRSS3_uc003zti.3_Missense_Mutation_p.S57C|PRSS3_uc003ztl.3_Missense_Mutation_p.S43C NM_007343 NP_031369 P35030 TRY3_HUMAN mesotrypsin isoform 1 preproprotein 100 Peptidase S1. digestion|endothelial cell migration|zymogen activation extracellular space calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity 0 LUSC - Lung squamous cell carcinoma(29;0.0176) TCCCTGAATTCTGGCTCCCAC 0.547 8 307 --- --- --- --- PASS TLN1 7094 broad.mit.edu 37 9 35710635 35710635 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr9:35710635C>T uc003zxt.2 - 33 4603 c.4249G>A c.(4249-4251)GGA>AGA p.G1417R NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 1417 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GGCAGGTTTCCGTTCTTGGCA 0.547 10 61 --- --- --- --- PASS MAMDC4 158056 broad.mit.edu 37 9 139751491 139751491 + Missense_Mutation SNP T A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr9:139751491T>A uc004cjs.2 + 16 2020 c.1970T>A c.(1969-1971)ATT>AAT p.I657N MAMDC4_uc011mej.1_Translation_Start_Site NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor 736 MAM 4.|Extracellular (Potential). protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) GGGCCCCAGATTGGTGAGTGG 0.662 5 35 --- --- --- --- PASS FAM166A 401565 broad.mit.edu 37 9 140139670 140139670 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr9:140139670G>C uc004cmi.1 - 4 578 c.523C>G c.(523-525)CTG>GTG p.L175V NM_001001710 NP_001001710 Q6J272 F166A_HUMAN hypothetical protein LOC401565 175 ovary(1) 1 CAGTGGTACAGCTGGAGCGGG 0.692 10 55 --- --- --- --- PASS LARP4B 23185 broad.mit.edu 37 10 909706 909706 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr10:909706G>C uc001ifs.1 - 4 448 c.407C>G c.(406-408)TCT>TGT p.S136C NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 136 nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 TTCAGGCAGAGAGTCATATTC 0.468 12 103 --- --- --- --- PASS SLC16A9 220963 broad.mit.edu 37 10 61414243 61414243 + Missense_Mutation SNP T C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr10:61414243T>C uc010qig.1 - 5 990 c.541A>G c.(541-543)ATA>GTA p.I181V NM_194298 NP_919274 Q7RTY1 MOT9_HUMAN solute carrier family 16 (monocarboxylic acid 181 Helical; (Potential). urate metabolic process integral to membrane|plasma membrane symporter activity skin(2)|ovary(1) 3 CAGGCTAATATATTTAAAGCT 0.423 69 97 --- --- --- --- PASS JMJD1C 221037 broad.mit.edu 37 10 64967767 64967767 + Missense_Mutation SNP T A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr10:64967767T>A uc001jmn.2 - 10 3962 c.3662A>T c.(3661-3663)GAA>GTA p.E1221V JMJD1C_uc001jml.2_Missense_Mutation_p.E1002V|JMJD1C_uc001jmm.2_Missense_Mutation_p.E933V|JMJD1C_uc010qiq.1_Missense_Mutation_p.E1039V|JMJD1C_uc009xpi.2_Missense_Mutation_p.E1039V|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.E258V NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1221 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) ATAGCTGCCTTCCTTTCTTTC 0.438 17 137 --- --- --- --- PASS JMJD1C 221037 broad.mit.edu 37 10 64967768 64967768 + Nonsense_Mutation SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr10:64967768C>A uc001jmn.2 - 10 3961 c.3661G>T c.(3661-3663)GAA>TAA p.E1221* JMJD1C_uc001jml.2_Nonsense_Mutation_p.E1002*|JMJD1C_uc001jmm.2_Nonsense_Mutation_p.E933*|JMJD1C_uc010qiq.1_Nonsense_Mutation_p.E1039*|JMJD1C_uc009xpi.2_Nonsense_Mutation_p.E1039*|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Nonsense_Mutation_p.E258* NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1221 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) TAGCTGCCTTCCTTTCTTTCC 0.443 17 140 --- --- --- --- PASS PTEN 5728 broad.mit.edu 37 10 89692902 89692902 + Missense_Mutation SNP G A A rs121909218 TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr10:89692902G>A uc001kfb.2 + 6 1417 c.386G>A c.(385-387)GGA>GAA p.G129E NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 129 Phosphatase tensin-type. G -> E (in CD; no lipid phosphatase activity but retains protein phosphatase activity; retains ability to inhibit focal adhesion formation).|G -> R (in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.G129R(6)|p.R55fs*1(4)|p.G129*(3)|p.K128_R130del(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G129V(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.G129E(1)|p.G129fs*5(1)|p.G127fs*5(1)|p.G129fs*50(1)|p.F56fs*2(1)|p.G129fs*51(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GCTGGAAAGGGACGAACTGGT 0.413 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 43 90 --- --- --- --- PASS PNPLA2 57104 broad.mit.edu 37 11 822471 822471 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr11:822471C>T uc001lrt.2 + 5 763 c.561C>T c.(559-561)TTC>TTT p.F187F PNPLA2_uc009ycl.2_5'Flank NM_020376 NP_065109 Q96AD5 PLPL2_HUMAN patatin-like phospholipase domain containing 2 187 Lumenal (Potential). negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process integral to membrane|lipid particle|plasma membrane triglyceride lipase activity 0 all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGTCCCCCTTCTCGGGCGAGA 0.572 11 141 --- --- --- --- PASS OR52B2 255725 broad.mit.edu 37 11 6190816 6190816 + Silent SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr11:6190816G>A uc010qzy.1 - 1 741 c.741C>T c.(739-741)CTC>CTT p.L247L NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, 247 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGATGACACAGAGGTGGGAGC 0.488 7 60 --- --- --- --- PASS MRGPRX1 259249 broad.mit.edu 37 11 18955526 18955526 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr11:18955526G>A uc001mpg.2 - 1 1024 c.806C>T c.(805-807)CCC>CTC p.P269L NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 269 Helical; Name=7; (Potential). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(2)|central_nervous_system(1) 3 GTAAATGATGGGGTTGGCACT 0.468 13 120 --- --- --- --- PASS LGR4 55366 broad.mit.edu 37 11 27390301 27390301 + Missense_Mutation SNP T G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr11:27390301T>G uc001mrj.3 - 18 2454 c.1969A>C c.(1969-1971)AAT>CAT p.N657H LGR4_uc001mrk.3_Missense_Mutation_p.N633H NM_018490 NP_060960 Q9BXB1 LGR4_HUMAN leucine-rich repeat-containing G protein-coupled 657 Cytoplasmic (Potential). integral to membrane|plasma membrane protein-hormone receptor activity ovary(1) 1 TTGAGATGATTGCTCTTCCCA 0.413 13 53 --- --- --- --- PASS API5 8539 broad.mit.edu 37 11 43350426 43350426 + Silent SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr11:43350426C>G uc010rfh.1 + 9 1283 c.1110C>G c.(1108-1110)CTC>CTG p.L370L API5_uc010rfg.1_Silent_p.L359L|API5_uc001mxf.2_Silent_p.L370L|API5_uc010rfi.1_Silent_p.L316L|API5_uc001mxg.2_Silent_p.L244L NM_001142930 NP_001136402 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 isoform a 370 Leucine-zipper. anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 CAGAAAAGCTCAAAGATTTCA 0.398 13 58 --- --- --- --- PASS ARFGAP2 84364 broad.mit.edu 37 11 47188328 47188328 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr11:47188328G>A uc001ndt.2 - 13 1330 c.1315C>T c.(1315-1317)CGG>TGG p.R439W ARFGAP2_uc010rha.1_Missense_Mutation_p.R170W|ARFGAP2_uc010rhb.1_Missense_Mutation_p.R411W|ARFGAP2_uc001ndu.2_Missense_Mutation_p.R303W|ARFGAP2_uc010rhc.1_Missense_Mutation_p.R170W NM_032389 NP_115765 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating 439 Required for interaction with coatomer. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding ovary(1) 1 TCCACCTCCCGCCCAAAGAAC 0.597 12 169 --- --- --- --- PASS OR8H2 390151 broad.mit.edu 37 11 55872908 55872908 + Silent SNP A G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr11:55872908A>G uc010riy.1 + 1 390 c.390A>G c.(388-390)CTA>CTG p.L130L NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) GCAGTCCTCTACACTACACAG 0.468 HNSCC(53;0.14) 25 201 --- --- --- --- PASS OR4D10 390197 broad.mit.edu 37 11 59245380 59245380 + Missense_Mutation SNP A G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr11:59245380A>G uc001nnz.1 + 1 478 c.478A>G c.(478-480)ATT>GTT p.I160V NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, 160 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 CATCGTGCAGATTTCCCTGTT 0.532 22 125 --- --- --- --- PASS MS4A6A 64231 broad.mit.edu 37 11 59939686 59939686 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr11:59939686C>T uc001nor.2 - 7 930 c.692G>A c.(691-693)GGC>GAC p.G231D MS4A6A_uc001noq.2_3'UTR|MS4A6A_uc001nos.3_Missense_Mutation_p.G259D|MS4A6A_uc009ymv.2_Missense_Mutation_p.G231D NM_152852 NP_690591 Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 231 Cytoplasmic (Potential). integral to membrane receptor activity 0 TGAGGACATGCCAGAATTACC 0.328 23 181 --- --- --- --- PASS SF3B2 10992 broad.mit.edu 37 11 65835515 65835515 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr11:65835515C>T uc001ogy.1 + 20 2469 c.2429C>T c.(2428-2430)ACG>ATG p.T810M PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.1_5'Flank NM_006842 NP_006833 Q13435 SF3B2_HUMAN splicing factor 3B subunit 2 810 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(2)|breast(1) 3 GACATGTCCACGGTGAGTACT 0.512 OREG0021094 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 122 --- --- --- --- PASS DYNC2H1 79659 broad.mit.edu 37 11 103091471 103091471 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr11:103091471G>C uc001pho.2 + 57 9210 c.9066G>C c.(9064-9066)AGG>AGC p.R3022S DYNC2H1_uc001phn.1_Missense_Mutation_p.R3022S|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3022 Stalk (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GAGTTTTAAGGTTGATGGGTA 0.358 9 85 --- --- --- --- PASS TTC36 143941 broad.mit.edu 37 11 118398237 118398237 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr11:118398237C>T uc001ptg.1 + 1 28 c.28C>T c.(28-30)CTG>TTG p.L10L TTC36_uc010ryb.1_RNA|TTC36_uc010ryc.1_5'UTR NM_001080441 NP_001073910 A6NLP5 TTC36_HUMAN tetratricopeptide repeat domain 36 10 binding 0 TCAGGCAGTGCTGCAGGCCAT 0.527 33 152 --- --- --- --- PASS SCN3B 55800 broad.mit.edu 37 11 123524489 123524489 + Missense_Mutation SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr11:123524489C>A uc001pza.1 - 2 428 c.21G>T c.(19-21)TTG>TTT p.L7F SCN3B_uc001pzb.1_Missense_Mutation_p.L7F NM_001040151 NP_001035241 Q9NY72 SCN3B_HUMAN voltage-gated sodium channel beta-3 subunit 7 axon guidance integral to membrane|plasma membrane voltage-gated sodium channel activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227) CCAGGGGAAACAATCTATTGA 0.512 32 198 --- --- --- --- PASS KDM5A 5927 broad.mit.edu 37 12 495116 495116 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr12:495116C>G uc001qif.1 - 2 553 c.190G>C c.(190-192)GAA>CAA p.E64Q KDM5A_uc001qie.1_Missense_Mutation_p.E64Q|KDM5A_uc010sdn.1_Missense_Mutation_p.E64Q|KDM5A_uc010sdo.1_Intron NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 64 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 CTTTTTACTTCACAGGCAAAT 0.368 T NUP98 AML 16 79 --- --- --- --- PASS C1S 716 broad.mit.edu 37 12 7172571 7172571 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr12:7172571G>A uc001qsj.2 + 9 1404 c.685G>A c.(685-687)GAC>AAC p.D229N C1S_uc001qsk.2_Missense_Mutation_p.D229N|C1S_uc001qsl.2_Missense_Mutation_p.D229N|C1S_uc009zfr.2_Missense_Mutation_p.D62N|C1S_uc009zfs.2_RNA NM_201442 NP_958850 P09871 C1S_HUMAN complement component 1, s subcomponent 229 CUB 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity skin(1) 1 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GGAAGCAGCTGACTCAGCGGG 0.463 18 192 --- --- --- --- PASS PTPRO 5800 broad.mit.edu 37 12 15650234 15650234 + Silent SNP A C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr12:15650234A>C uc001rcv.1 + 3 579 c.405A>C c.(403-405)ACA>ACC p.T135T PTPRO_uc001rcw.1_Silent_p.T135T|PTPRO_uc001rcu.1_Silent_p.T135T NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 135 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) CTCCTGAAACAGGAGTCCTGT 0.373 26 190 --- --- --- --- PASS C12orf35 55196 broad.mit.edu 37 12 32137042 32137042 + Silent SNP A T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr12:32137042A>T uc001rks.2 + 4 3567 c.3153A>T c.(3151-3153)CTA>CTT p.L1051L NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 1051 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) TCTTATACCTACATGACCAGC 0.438 31 124 --- --- --- --- PASS RACGAP1 29127 broad.mit.edu 37 12 50387974 50387974 + Nonsense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr12:50387974G>A uc001rvt.2 - 14 1589 c.1279C>T c.(1279-1281)CGA>TGA p.R427* RACGAP1_uc009zlm.1_Nonsense_Mutation_p.R427*|RACGAP1_uc001rvs.2_Nonsense_Mutation_p.R427*|RACGAP1_uc001rvu.2_Nonsense_Mutation_p.R427* NM_013277 NP_037409 Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 427 Rho-GAP. blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding kidney(1) 1 TTGAGGTTTCGAAGAAAGTCT 0.378 21 121 --- --- --- --- PASS HNRNPA1 3178 broad.mit.edu 37 12 54678102 54678102 + Splice_Site SNP G T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr12:54678102G>T uc001sfl.2 + 10 1227 c.1123_splice c.e10+1 HNRNPA1_uc001sfm.2_Splice_Site|HNRNPA1_uc009zng.2_Intron|HNRNPA1_uc009znh.2_Splice_Site|HNRNPA1_uc009zni.2_Splice_Site|HNRNPA1_uc001sfn.2_Splice_Site|HNRNPA1_uc001sfo.3_Splice_Site|HNRNPA1_uc009znj.1_3'UTR NM_031157 NP_112420 P09651 ROA1_HUMAN heterogeneous nuclear ribonucleoprotein A1 interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding skin(2)|ovary(1) 3 TTTTAATTAGGTAAGTAAGCA 0.368 7 56 --- --- --- --- PASS OR6C76 390326 broad.mit.edu 37 12 55820491 55820491 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr12:55820491G>C uc010spm.1 + 1 454 c.454G>C c.(454-456)GTA>CTA p.V152L NM_001005183 NP_001005183 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGGTTTCTTGGTAATTTTTCC 0.443 21 116 --- --- --- --- PASS MBD6 114785 broad.mit.edu 37 12 57919593 57919593 + Missense_Mutation SNP A C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr12:57919593A>C uc001soj.1 + 6 1066 c.842A>C c.(841-843)CAC>CCC p.H281P MBD6_uc001sok.1_Missense_Mutation_p.H148P|MBD6_uc001sol.1_5'Flank NM_052897 NP_443129 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 281 Pro-rich. chromosome|nucleus chromatin binding|DNA binding central_nervous_system(3)|ovary(1) 4 CTCCCCGCCCACCCTGGTCCT 0.662 10 68 --- --- --- --- PASS DPY19L2 283417 broad.mit.edu 37 12 64011105 64011105 + Silent SNP A C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr12:64011105A>C uc001srp.1 - 11 1378 c.1197T>G c.(1195-1197)TCT>TCG p.S399S DPY19L2_uc009zqk.1_RNA NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 399 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) ACAAAGATGAAGAATAATAAG 0.279 6 34 --- --- --- --- PASS TCTN1 79600 broad.mit.edu 37 12 111070361 111070361 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr12:111070361G>C uc009zvs.2 + 5 817 c.709G>C c.(709-711)GCA>CCA p.A237P TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Missense_Mutation_p.A177P|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.A237P|TCTN1_uc001trn.3_Missense_Mutation_p.A237P|TCTN1_uc001trj.1_Missense_Mutation_p.A181P|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron NM_001082537 NP_001076006 Q2MV58 TECT1_HUMAN tectonic family member 1 isoform 2 237 multicellular organismal development extracellular region 0 TAATAACCCTGCAGGTAAGAA 0.313 28 113 --- --- --- --- PASS CIT 11113 broad.mit.edu 37 12 120195326 120195326 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr12:120195326G>C uc001txi.1 - 21 2482 c.2429C>G c.(2428-2430)TCT>TGT p.S810C CIT_uc001txh.1_Missense_Mutation_p.S344C|CIT_uc001txj.1_Missense_Mutation_p.S852C NM_007174 NP_009105 O14578 CTRO_HUMAN citron 810 Potential. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CCTGAGTTCAGAAATCATCTC 0.527 21 131 --- --- --- --- PASS NBEA 26960 broad.mit.edu 37 13 35615106 35615106 + Missense_Mutation SNP A G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr13:35615106A>G uc001uvb.2 + 3 537 c.331A>G c.(331-333)ATT>GTT p.I111V NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 111 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GATGAACTTTATTATCCAGGA 0.383 18 195 --- --- --- --- PASS EPSTI1 94240 broad.mit.edu 37 13 43462602 43462602 + Silent SNP T C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr13:43462602T>C uc001uyw.1 - 13 1093 c.1017A>G c.(1015-1017)TCA>TCG p.S339S EPSTI1_uc001uyx.1_3'UTR NM_001002264 NP_001002264 Q96J88 ESIP1_HUMAN epithelial stromal interaction 1 isoform 1 Error:Variant_position_missing_in_Q96J88_after_alignment ovary(1) 1 Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858) GGTCAGTTGATGAAGGCCAGA 0.368 5 137 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77672487 77672487 + Silent SNP T C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr13:77672487T>C uc001vkf.2 - 57 8779 c.8688A>G c.(8686-8688)GAA>GAG p.E2896E MYCBP2_uc010aev.2_Silent_p.E2300E|MYCBP2_uc001vkg.1_Silent_p.E419E|MYCBP2_uc010aew.2_Silent_p.E282E NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2896 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) AGGTGCAGACTTCGACCACCT 0.433 9 127 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77900608 77900608 + Splice_Site SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr13:77900608C>T uc001vkf.2 - 2 279 c.188_splice c.e2+1 p.R63_splice MYCBP2_uc010aev.2_Intron NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TGGGGACGCACCTGGAGGCTG 0.692 4 39 --- --- --- --- PASS SLITRK1 114798 broad.mit.edu 37 13 84455087 84455087 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr13:84455087C>G uc001vlk.2 - 1 1442 c.556G>C c.(556-558)GGT>CGT p.G186R NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 186 Extracellular (Potential).|LRR 6. integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) AGCCTGTTACCCCGGAGGTCG 0.527 5 121 --- --- --- --- PASS DZIP1 22873 broad.mit.edu 37 13 96293633 96293633 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr13:96293633C>T uc001vmk.2 - 5 1365 c.513G>A c.(511-513)AAG>AAA p.K171K DZIP1_uc001vml.2_Silent_p.K171K|DZIP1_uc001vmn.2_Silent_p.K160K NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN DAZ interacting protein 1 isoform 2 171 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) CCTTGAGCGTCTTGATCTCCC 0.602 4 41 --- --- --- --- PASS MBNL2 10150 broad.mit.edu 37 13 97999141 97999141 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr13:97999141C>G uc010aft.2 + 5 1440 c.624C>G c.(622-624)ATC>ATG p.I208M MBNL2_uc001vmz.2_Missense_Mutation_p.I208M|MBNL2_uc001vna.2_Missense_Mutation_p.I208M|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Intron|MBNL2_uc001vnc.2_5'Flank NM_144778 NP_659002 Q5VZF2 MBNL2_HUMAN muscleblind-like 2 isoform 1 208 mRNA processing|regulation of RNA splicing|RNA splicing cytoplasm|nucleus RNA binding|zinc ion binding 0 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.218) GCACCATGATCGACACAAGTG 0.527 27 56 --- --- --- --- PASS SLC7A8 23428 broad.mit.edu 37 14 23609702 23609702 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr14:23609702C>T uc001wiz.2 - 5 1492 c.766G>A c.(766-768)GAG>AAG p.E256K SLC7A8_uc001wix.2_Missense_Mutation_p.E53K|SLC7A8_uc010tnk.1_Intron|SLC7A8_uc010tnl.1_Missense_Mutation_p.E151K|SLC7A8_uc001wiy.2_RNA|SLC7A8_uc010akj.2_Missense_Mutation_p.E256K NM_012244 NP_036376 Q9UHI5 LAT2_HUMAN solute carrier family 7 (cationic amino acid 256 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity ovary(1) 1 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) ACAAGCTCCTCAGTCACGTAA 0.527 6 199 --- --- --- --- PASS BAZ1A 11177 broad.mit.edu 37 14 35231112 35231112 + Missense_Mutation SNP T C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr14:35231112T>C uc001wsk.2 - 24 4662 c.4094A>G c.(4093-4095)AAT>AGT p.N1365S BAZ1A_uc001wsl.2_Missense_Mutation_p.N1333S NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1365 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TGGTGTATTATTAGCACTTTT 0.428 49 125 --- --- --- --- PASS FBXO34 55030 broad.mit.edu 37 14 55817179 55817179 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr14:55817179G>C uc001xbu.2 + 2 316 c.71G>C c.(70-72)AGA>ACA p.R24T FBXO34_uc001xbv.2_5'Flank|FBXO34_uc010aoo.2_Missense_Mutation_p.R24T NM_017943 NP_060413 Q9NWN3 FBX34_HUMAN F-box only protein 34 24 ovary(2)|lung(2)|skin(1) 5 GAAACGCAGAGAACTCCTATG 0.453 29 58 --- --- --- --- PASS ZFYVE26 23503 broad.mit.edu 37 14 68274248 68274248 + Silent SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr14:68274248C>G uc001xka.2 - 5 892 c.753G>C c.(751-753)GGG>GGC p.G251G ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.G251G|ZFYVE26_uc010tta.1_Silent_p.G251G NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 251 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GCAGGGGACTCCCCTCGGTCC 0.627 17 40 --- --- --- --- PASS ATXN3 4287 broad.mit.edu 37 14 92563086 92563086 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr14:92563086C>G uc001yac.3 - 2 190 c.121G>C c.(121-123)GAT>CAT p.D41H ATXN3_uc010aug.2_Missense_Mutation_p.D41H|ATXN3_uc001yad.3_Intron|ATXN3_uc010auh.2_Missense_Mutation_p.D41H|ATXN3_uc001yae.3_5'UTR|ATXN3_uc010twl.1_Intron NM_004993 NP_004984 P54252 ATX3_HUMAN ataxin 3 reference isoform 41 Josephin. cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding 0 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) TCCTCCTCATCCAGCTGATGT 0.398 9 119 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102499791 102499791 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr14:102499791C>T uc001yks.2 + 54 10547 c.10383C>T c.(10381-10383)ATC>ATT p.I3461I NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 3461 Stalk (By similarity).|Potential. cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 CCCAGGCCATCAAGGCAGACC 0.537 15 41 --- --- --- --- PASS MARK3 4140 broad.mit.edu 37 14 103946810 103946810 + Silent SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr14:103946810G>A uc001ymz.3 + 14 2235 c.1569G>A c.(1567-1569)CAG>CAA p.Q523Q MARK3_uc001ymx.3_Silent_p.Q523Q|MARK3_uc001ymw.3_Silent_p.Q523Q|MARK3_uc001yna.3_Silent_p.Q507Q|MARK3_uc001ymy.3_Silent_p.Q444Q|MARK3_uc010awp.2_Silent_p.Q546Q|MARK3_uc010tyb.1_Silent_p.Q318Q|MARK3_uc010awq.2_Silent_p.Q53Q NM_001128918 NP_001122390 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 523 ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|ovary(1)|stomach(1) 4 Melanoma(154;0.155) Epithelial(46;0.241) CAGTGATTCAGAATGGCAAAG 0.373 44 103 --- --- --- --- PASS INO80 54617 broad.mit.edu 37 15 41388466 41388466 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr15:41388466C>T uc001zni.2 - 2 256 c.43G>A c.(43-45)GAG>AAG p.E15K INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 15 Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 TTTGCCAGCTCAGTGCAGCCT 0.517 4 26 --- --- --- --- PASS SPG11 80208 broad.mit.edu 37 15 44900797 44900797 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr15:44900797G>C uc001ztx.2 - 19 3329 c.3298C>G c.(3298-3300)CAG>GAG p.Q1100E SPG11_uc010ueh.1_Missense_Mutation_p.Q1100E|SPG11_uc010uei.1_Missense_Mutation_p.Q1100E NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 1100 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TCTTCATTCTGAACAACCTAA 0.363 9 30 --- --- --- --- PASS SLC27A2 11001 broad.mit.edu 37 15 50515285 50515285 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr15:50515285G>A uc001zxw.2 + 5 1328 c.1096G>A c.(1096-1098)GAA>AAA p.E366K SLC27A2_uc010bes.2_Missense_Mutation_p.E313K|SLC27A2_uc001zxx.2_Missense_Mutation_p.E131K NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid 366 Cytoplasmic (Potential). bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity ovary(1)|skin(1) 2 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) TGCTGCCACTGAAGGCAATAT 0.408 8 86 --- --- --- --- PASS C15orf60 283677 broad.mit.edu 37 15 73852096 73852096 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr15:73852096C>G uc002avq.2 + 6 668 c.640C>G c.(640-642)CTT>GTT p.L214V C15orf60_uc010bjb.2_Missense_Mutation_p.L186V NM_001042367 NP_001035826 Q7Z4M0 CO060_HUMAN hypothetical protein LOC283677 214 pancreas(1) 1 CCTGCAGACTCTTCTGGCATC 0.453 9 80 --- --- --- --- PASS TBC1D21 161514 broad.mit.edu 37 15 74173766 74173766 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr15:74173766G>C uc002avz.2 + 2 170 c.87G>C c.(85-87)AAG>AAC p.K29N TBC1D21_uc010ulc.1_Intron NM_153356 NP_699187 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 29 intracellular Rab GTPase activator activity ovary(2) 2 CCATTGACAAGACAGAATGGG 0.433 15 105 --- --- --- --- PASS ACSBG1 23205 broad.mit.edu 37 15 78474488 78474488 + Splice_Site SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr15:78474488C>G uc002bdh.2 - 8 951 c.895_splice c.e8-1 p.I299_splice ACSBG1_uc010umw.1_Splice_Site_p.I295_splice|ACSBG1_uc010umx.1_Splice_Site_p.I57_splice|ACSBG1_uc010umy.1_Splice_Site_p.I192_splice NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN lipidosin 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 TCCACGTGATCTGGAGGACAA 0.652 5 36 --- --- --- --- PASS CHD2 1106 broad.mit.edu 37 15 93547926 93547926 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr15:93547926C>G uc002bsp.2 + 34 4933 c.4358C>G c.(4357-4359)CCT>CGT p.P1453R CHD2_uc002bso.1_Missense_Mutation_p.P1453R NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1453 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GGAAGTGAACCTGTCCCCATT 0.473 4 155 --- --- --- --- PASS TIGD7 91151 broad.mit.edu 37 16 3349552 3349552 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr16:3349552C>G uc002cus.2 - 1 1849 c.1063G>C c.(1063-1065)GAA>CAA p.E355Q ZNF263_uc002cur.2_3'UTR NM_033208 NP_149985 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 355 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 TCACTTTCTTCAAATATTACA 0.274 11 79 --- --- --- --- PASS MYH11 4629 broad.mit.edu 37 16 15853504 15853504 + Silent SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr16:15853504G>A uc002ddy.2 - 12 1437 c.1330C>T c.(1330-1332)CTG>TTG p.L444L MYH11_uc002ddv.2_Silent_p.L451L|MYH11_uc002ddw.2_Silent_p.L444L|MYH11_uc002ddx.2_Silent_p.L451L|MYH11_uc010bvg.2_Silent_p.L276L|MYH11_uc002dea.1_Silent_p.L150L NM_002474 NP_002465 P35749 MYH11_HUMAN smooth muscle myosin heavy chain 11 isoform 444 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1) 15 GTCTTGTCCAGGGCTTTGTTC 0.552 T CBFB AML 24 111 --- --- --- --- PASS C16orf62 57020 broad.mit.edu 37 16 19603129 19603129 + Silent SNP A G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr16:19603129A>G uc002dgn.1 + 8 669 c.657A>G c.(655-657)TCA>TCG p.S219S C16orf62_uc002dgo.1_Silent_p.S219S|C16orf62_uc002dgp.1_Intron|C16orf62_uc010vas.1_Silent_p.S93S|C16orf62_uc002dgm.1_Silent_p.S219S NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN hypothetical protein LOC57020 219 integral to membrane ovary(1) 1 AGCTTCTTTCAGACACCAGTG 0.368 13 98 --- --- --- --- PASS NFATC2IP 84901 broad.mit.edu 37 16 28967599 28967599 + Nonsense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr16:28967599C>T uc002dru.2 + 5 802 c.787C>T c.(787-789)CGA>TGA p.R263* uc010vct.1_Intron|NFATC2IP_uc002drt.2_Intron|NFATC2IP_uc002drv.2_5'UTR|NFATC2IP_uc010vdh.1_5'Flank NM_032815 NP_116204 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, 263 cytoplasm|nucleus ovary(1) 1 AGAGACCCCCCGACTCTTCCC 0.622 5 42 --- --- --- --- PASS ADCY7 113 broad.mit.edu 37 16 50346817 50346817 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr16:50346817C>T uc002egd.1 + 21 2889 c.2621C>T c.(2620-2622)TCC>TTC p.S874F NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 874 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) TACCATCAGTCCTATGACTGC 0.547 12 80 --- --- --- --- PASS CAMTA2 23125 broad.mit.edu 37 17 4883886 4883886 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr17:4883886C>T uc002gah.1 - 9 839 c.731G>A c.(730-732)AGC>AAC p.S244N CAMTA2_uc010cku.1_Missense_Mutation_p.S267N|CAMTA2_uc002gag.1_Missense_Mutation_p.S243N|CAMTA2_uc002gai.1_Missense_Mutation_p.S246N|CAMTA2_uc010ckv.1_5'UTR|CAMTA2_uc010vsu.1_Missense_Mutation_p.S57N NM_015099 NP_055914 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 244 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding ovary(1) 1 GTGTTTCGTGCTGCTGCATTT 0.572 OREG0024111 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 101 --- --- --- --- PASS C17orf74 201243 broad.mit.edu 37 17 7330607 7330607 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr17:7330607G>A uc002ggw.2 + 3 1370 c.1297G>A c.(1297-1299)GTC>ATC p.V433I FGF11_uc010vtw.1_Intron NM_175734 NP_783861 Q0P670 CQ074_HUMAN hypothetical protein LOC201243 433 integral to membrane 0 Prostate(122;0.157) CTGGCCCAAAGTCCAGGCTGC 0.642 6 40 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7576928 7576928 + Splice_Site SNP T A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr17:7576928T>A uc002gim.2 - 9 1114 c.920_splice c.e9-1 p.A307_splice TP53_uc002gig.1_Intron|TP53_uc002gih.2_Splice_Site_p.A307_splice|TP53_uc010cne.1_Splice_Site|TP53_uc010cnf.1_Splice_Site_p.A175_splice|TP53_uc010cng.1_Splice_Site_p.A175_splice|TP53_uc002gii.1_Splice_Site_p.A175_splice|TP53_uc010cnh.1_Splice_Site_p.A307_splice|TP53_uc010cni.1_Splice_Site_p.A307_splice|TP53_uc002gij.2_Splice_Site_p.A307_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.?(14)|p.0?(7)|p.A307fs*34(1)|p.L308fs*31(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) TGGGCAGTGCTAGGAAAGAGG 0.493 111 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) 17 48 --- --- --- --- PASS ELAC2 60528 broad.mit.edu 37 17 12908318 12908318 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr17:12908318G>A uc002gnz.3 - 11 1066 c.971C>T c.(970-972)GCC>GTC p.A324V ELAC2_uc002gnv.3_5'Flank|ELAC2_uc002gnw.3_5'UTR|ELAC2_uc002gnx.3_Missense_Mutation_p.A84V|ELAC2_uc010vvo.1_Missense_Mutation_p.A147V|ELAC2_uc010vvp.1_Missense_Mutation_p.A305V|ELAC2_uc010vvq.1_Missense_Mutation_p.A324V|ELAC2_uc010vvr.1_Missense_Mutation_p.A284V NM_018127 NP_060597 Q9BQ52 RNZ2_HUMAN elaC homolog 2 isoform 1 324 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding 0 CTGAAAGGTGGCATTCTCACA 0.502 Hereditary_Prostate_Cancer 42 148 --- --- --- --- PASS TEKT3 64518 broad.mit.edu 37 17 15234856 15234856 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr17:15234856C>T uc002gon.2 - 3 234 c.47G>A c.(46-48)AGA>AAA p.R16K NM_031898 NP_114104 Q9BXF9 TEKT3_HUMAN tektin 3 16 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) TGGTGTTGGTCTAGGGTGGGC 0.438 11 67 --- --- --- --- PASS PIGS 94005 broad.mit.edu 37 17 26890464 26890464 + Silent SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr17:26890464G>A uc002hbo.2 - 5 826 c.453C>T c.(451-453)TCC>TCT p.S151S PIGS_uc002hbn.2_Silent_p.S143S|PIGS_uc010wap.1_Silent_p.S90S NM_033198 NP_149975 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, 151 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(2)|urinary_tract(1)|kidney(1) 4 Lung NSC(42;0.00431) GAAGAAGTGAGGAGTGTTCAG 0.537 9 67 --- --- --- --- PASS WNK4 65266 broad.mit.edu 37 17 40936150 40936150 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr17:40936150C>T uc002ibj.2 + 3 1008 c.987C>T c.(985-987)CGC>CGT p.R329R WNK4_uc010wgx.1_Missense_Mutation_p.A23V|WNK4_uc002ibk.1_Silent_p.R101R|WNK4_uc010wgy.1_5'Flank NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 329 Protein kinase. intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CGCTCAAGCGCGCCTCCTTTG 0.602 20 113 --- --- --- --- PASS TBX2 6909 broad.mit.edu 37 17 59483116 59483116 + Silent SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr17:59483116C>A uc010wox.1 + 6 1886 c.1605C>A c.(1603-1605)GGC>GGA p.G535G TBX2_uc002ize.2_3'UTR|TBX2_uc002izg.2_Silent_p.G381G NM_005994 NP_005985 Q13207 TBX2_HUMAN T-box 2 535 Gly-rich. cell aging|positive regulation of cell proliferation sequence-specific DNA binding 0 TGGACGCAGGCGGGCTGGGTC 0.736 2 1 --- --- --- --- PASS MARCH10 162333 broad.mit.edu 37 17 60837244 60837244 + Missense_Mutation SNP T C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr17:60837244T>C uc010ddr.2 - 4 572 c.334A>G c.(334-336)ATG>GTG p.M112V MARCH10_uc002jag.3_Missense_Mutation_p.M112V|MARCH10_uc010dds.2_Missense_Mutation_p.M112V|MARCH10_uc002jah.2_Missense_Mutation_p.M112V NM_001100875 NP_001094345 Q8NA82 MARHA_HUMAN ring finger protein 190 112 ligase activity|zinc ion binding 0 CTTACAGTCATGGTACTTTTA 0.413 23 97 --- --- --- --- PASS RIOK3 8780 broad.mit.edu 37 18 21059301 21059301 + Silent SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr18:21059301C>G uc002kui.3 + 12 1982 c.1365C>G c.(1363-1365)GTC>GTG p.V455V RIOK3_uc010dls.2_Silent_p.V452V|RIOK3_uc010xas.1_Silent_p.V439V|RIOK3_uc010xat.1_Silent_p.V199V NM_003831 NP_003822 O14730 RIOK3_HUMAN sudD suppressor of bimD6 homolog 455 Protein kinase. chromosome segregation ATP binding|protein binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(1) 3 all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127) AAGGAGGAGTCAAGGAAGCCC 0.368 8 44 --- --- --- --- PASS SLC14A2 8170 broad.mit.edu 37 18 43204692 43204692 + Silent SNP C T T rs141644181 byFrequency TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr18:43204692C>T uc010dnj.2 + 3 384 c.63C>T c.(61-63)TAC>TAT p.Y21Y SLC14A2_uc002lbb.2_Silent_p.Y21Y|SLC14A2_uc002lbe.2_Silent_p.Y21Y NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 21 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 ACAAACTCTACGAGGCAGAGT 0.562 6 84 --- --- --- --- PASS DCC 1630 broad.mit.edu 37 18 50923735 50923735 + Missense_Mutation SNP T C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr18:50923735T>C uc002lfe.1 + 18 3333 c.2746T>C c.(2746-2748)TAT>CAT p.Y916H DCC_uc010xdr.1_Missense_Mutation_p.Y744H|DCC_uc010dpf.1_Missense_Mutation_p.Y551H NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 916 Extracellular (Potential).|Fibronectin type-III 5. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AAACACAATGTATGAATTCTC 0.393 14 67 --- --- --- --- PASS CDH19 28513 broad.mit.edu 37 18 64235805 64235805 + Missense_Mutation SNP T A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr18:64235805T>A uc002lkc.1 - 3 476 c.338A>T c.(337-339)TAC>TTC p.Y113F CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Missense_Mutation_p.Y113F|CDH19_uc002lkd.2_Missense_Mutation_p.Y113F NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 113 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) TCTTAAGATGTAGAGGGATCG 0.433 23 148 --- --- --- --- PASS RTTN 25914 broad.mit.edu 37 18 67687945 67687945 + Missense_Mutation SNP T C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr18:67687945T>C uc002lkp.2 - 45 6127 c.6059A>G c.(6058-6060)CAG>CGG p.Q2020R RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.Q1108R|RTTN_uc002lkn.2_Missense_Mutation_p.Q10R|RTTN_uc010dqp.2_Missense_Mutation_p.Q272R NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 2020 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) CAGTGGCATCTGGGAAGCCAA 0.473 25 181 --- --- --- --- PASS RTTN 25914 broad.mit.edu 37 18 67742704 67742704 + Missense_Mutation SNP T A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr18:67742704T>A uc002lkp.2 - 33 4516 c.4448A>T c.(4447-4449)CAC>CTC p.H1483L RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.H571L NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 1483 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) AAAATGGCAGTGATATAAAAG 0.408 27 139 --- --- --- --- PASS TYK2 7297 broad.mit.edu 37 19 10476232 10476232 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr19:10476232G>C uc002moc.3 - 7 1350 c.972C>G c.(970-972)ATC>ATG p.I324M TYK2_uc010dxe.2_Missense_Mutation_p.I139M|TYK2_uc002mod.2_Missense_Mutation_p.I324M NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 324 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) GCCACCACTGGATGCCACCAG 0.652 16 97 --- --- --- --- PASS NWD1 284434 broad.mit.edu 37 19 16861050 16861050 + Missense_Mutation SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr19:16861050C>A uc002neu.3 + 6 2019 c.1597C>A c.(1597-1599)CCA>ACA p.P533T NWD1_uc002net.3_Missense_Mutation_p.P398T|NWD1_uc002nev.3_Missense_Mutation_p.P327T Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 533 NACHT. ATP binding skin(3)|ovary(2)|pancreas(2) 7 GTGTGGGAACCCAGGGCGGCT 0.642 3 36 --- --- --- --- PASS CILP2 148113 broad.mit.edu 37 19 19655799 19655799 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr19:19655799C>T uc002nmv.3 + 8 2530 c.2445C>T c.(2443-2445)GGC>GGT p.G815G CILP2_uc002nmw.3_Silent_p.G821G NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 815 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 CCCTGGGCGGCGAGGAGCTGG 0.746 4 14 --- --- --- --- PASS ZNF566 84924 broad.mit.edu 37 19 36940338 36940338 + Silent SNP A G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr19:36940338A>G uc002oea.3 - 5 880 c.798T>C c.(796-798)AGT>AGC p.S266S ZNF566_uc010xte.1_Silent_p.S266S|ZNF566_uc010xtf.1_Silent_p.S267S|ZNF566_uc002oeb.3_Silent_p.S266S|ZNF566_uc002oec.3_Silent_p.S162S|ZNF566_uc010xtg.1_Silent_p.S162S NM_032838 NP_116227 Q969W8 ZN566_HUMAN zinc finger protein 566 isoform 1 266 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) AGTTTGAACCACTACTAAAGG 0.423 6 88 --- --- --- --- PASS ZNF529 57711 broad.mit.edu 37 19 37037943 37037943 + Missense_Mutation SNP T C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr19:37037943T>C uc002oeh.3 - 5 1719 c.1517A>G c.(1516-1518)TAT>TGT p.Y506C ZNF529_uc010xth.1_Missense_Mutation_p.Y506C|ZNF529_uc010xti.1_Missense_Mutation_p.Y488C|ZNF529_uc002oeg.3_Missense_Mutation_p.Y401C NM_020951 NP_066002 Q6P280 ZN529_HUMAN zinc finger protein 529 isoform a 473 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) CTTGCATTCATAGGGTTTTTC 0.408 15 64 --- --- --- --- PASS ZNF567 163081 broad.mit.edu 37 19 37210578 37210578 + Missense_Mutation SNP T C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr19:37210578T>C uc010xtl.1 + 6 1174 c.952T>C c.(952-954)TTC>CTC p.F318L ZNF567_uc002oeo.1_Missense_Mutation_p.F318L|ZNF567_uc010xtk.1_Missense_Mutation_p.F318L|ZNF567_uc002oep.3_Missense_Mutation_p.F287L|ZNF567_uc002oeq.1_Missense_Mutation_p.F287L NM_152603 NP_689816 Q8N184 ZN567_HUMAN zinc finger protein 567 318 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TGGTAAGTCCTTCCGCCTCAA 0.423 6 38 --- --- --- --- PASS ZNF607 84775 broad.mit.edu 37 19 38189610 38189610 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr19:38189610C>G uc002ohc.1 - 5 2018 c.1422G>C c.(1420-1422)GAG>GAC p.E474D ZNF607_uc002ohb.1_Missense_Mutation_p.E473D NM_032689 NP_116078 Q96SK3 ZN607_HUMAN zinc finger protein 607 474 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) CATAGGGTTTCTCTCCTGTAT 0.378 12 102 --- --- --- --- PASS SIPA1L3 23094 broad.mit.edu 37 19 38692538 38692538 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr19:38692538C>T uc002ohk.2 + 20 5530 c.5021C>T c.(5020-5022)CCG>CTG p.P1674L NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 1674 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CTGAACGACCCGGCCCTGAGC 0.667 6 84 --- --- --- --- PASS B3GNT8 374907 broad.mit.edu 37 19 41932349 41932349 + Missense_Mutation SNP G T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr19:41932349G>T uc002oqs.2 - 3 789 c.335C>A c.(334-336)CCC>CAC p.P112H CYP2F1_uc010xvw.1_Intron|B3GNT8_uc002oqt.1_Intron NM_198540 NP_940942 Q7Z7M8 B3GN8_HUMAN UDP-GlcNAc:betaGal 112 Lumenal (Potential). poly-N-acetyllactosamine biosynthetic process|protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity 0 GAGGTCCTTGGGGTAGGAGGC 0.682 10 44 --- --- --- --- PASS ZNF221 7638 broad.mit.edu 37 19 44470198 44470198 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr19:44470198G>A uc002oxx.2 + 6 872 c.544G>A c.(544-546)GTT>ATT p.V182I ZNF221_uc010ejb.1_Missense_Mutation_p.V182I|ZNF221_uc010xws.1_Missense_Mutation_p.V182I NM_013359 NP_037491 Q9UK13 ZN221_HUMAN zinc finger protein 221 182 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Prostate(69;0.0352) CTTCAGTGATGTTTCTGTCTT 0.423 22 121 --- --- --- --- PASS RPS11 6205 broad.mit.edu 37 19 50000835 50000835 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr19:50000835G>C uc002pob.1 + 3 286 c.206G>C c.(205-207)CGA>CCA p.R69P SNORD35B_uc002poc.2_5'Flank NM_001015 NP_001006 P62280 RS11_HUMAN ribosomal protein S11 69 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|rRNA binding|structural constituent of ribosome 0 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245) GTGTCCATTCGAGGGCGGATC 0.542 5 98 --- --- --- --- PASS PRR12 57479 broad.mit.edu 37 19 50099808 50099808 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr19:50099808C>T uc002poo.3 + 4 2216 c.2216C>T c.(2215-2217)CCC>CTC p.P739L NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GGCGAGACCCCCGAGGGGCTG 0.687 3 21 --- --- --- --- PASS PPP2R1A 5518 broad.mit.edu 37 19 52714609 52714609 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr19:52714609G>A uc002pyp.2 + 4 526 c.367G>A c.(367-369)GAC>AAC p.D123N PPP2R1A_uc010ydk.1_Missense_Mutation_p.D68N|PPP2R1A_uc010epm.1_Missense_Mutation_p.D163N|PPP2R1A_uc002pyq.2_5'UTR NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 123 PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 3.|Polyoma small and medium T antigens Binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) CTCGCCCTCTGACCTGGAGGC 0.667 Mis clear cell ovarian carcinoma 7 53 --- --- --- --- PASS NLRP8 126205 broad.mit.edu 37 19 56466026 56466026 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr19:56466026G>C uc002qmh.2 + 3 673 c.602G>C c.(601-603)AGA>ACA p.R201T NLRP8_uc010etg.2_Missense_Mutation_p.R201T NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 201 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CCCCAGGGTAGACAGCCCAAG 0.532 17 77 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57325481 57325481 + Silent SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr19:57325481G>C uc002qnu.2 - 7 4680 c.4329C>G c.(4327-4329)GCC>GCG p.A1443A ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.A1414A|PEG3_uc002qnv.2_Silent_p.A1443A|PEG3_uc002qnw.2_Silent_p.A1319A|PEG3_uc002qnx.2_Silent_p.A1317A|PEG3_uc010etr.2_Silent_p.A1443A NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 1443 Glu-rich.|4 X 5 AA repeat of P-X-G-E-A.|1-4. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TTGGCTGCTCGGCCTCTCCAT 0.572 15 95 --- --- --- --- PASS STK35 140901 broad.mit.edu 37 20 2083902 2083902 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr20:2083902C>T uc010gak.2 + 2 783 c.783C>T c.(781-783)GTC>GTT p.V261V STK35_uc010zpu.1_Silent_p.V128V|STK35_uc002wfw.3_Silent_p.V128V NM_080836 NP_543026 Q8TDR2 STK35_HUMAN serine/threonine kinase 35 261 Protein kinase. cytoplasm|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 ACCAGAACGTCGTGCAGTTTG 0.632 8 22 --- --- --- --- PASS UBOX5 22888 broad.mit.edu 37 20 3095978 3095978 + Missense_Mutation SNP T C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr20:3095978T>C uc002whw.2 - 4 1560 c.1390A>G c.(1390-1392)ACT>GCT p.T464A uc002whv.1_Intron|UBOX5_uc002whx.2_Intron|UBOX5_uc002why.1_Missense_Mutation_p.T464A NM_014948 NP_055763 O94941 RNF37_HUMAN U-box domain containing 5 isoform a 464 nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 CTCCAGGAAGTGTTGCTCCCT 0.612 OREG0025729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 35 --- --- --- --- PASS MYT1 4661 broad.mit.edu 37 20 62853285 62853285 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr20:62853285G>C uc002yii.2 + 14 2645 c.2281G>C c.(2281-2283)GAT>CAT p.D761H MYT1_uc002yih.2_Missense_Mutation_p.D463H|MYT1_uc002yij.2_Missense_Mutation_p.D420H NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 761 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) TTCTGAAGCAGATGACCAGGA 0.517 6 54 --- --- --- --- PASS USP25 29761 broad.mit.edu 37 21 17214736 17214736 + Silent SNP A C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr21:17214736A>C uc002yjy.1 + 18 2431 c.2214A>C c.(2212-2214)CCA>CCC p.P738P USP25_uc011aby.1_Silent_p.P738P|USP25_uc002yjz.1_Silent_p.P738P|USP25_uc010gla.1_Intron NM_013396 NP_037528 Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 738 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3)|liver(2) 5 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) CAGGAGACCCAGAATATCTAG 0.323 19 69 --- --- --- --- PASS C21orf34 388815 broad.mit.edu 37 21 17443570 17443570 + RNA SNP T C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr21:17443570T>C uc002ykb.2 + 2 c.164T>C C21orf34_uc010glc.2_RNA NR_027790 Homo sapiens C21ORF34 (C21orf34) mRNA, partial cds, alternatively spliced. 0 Breast(209;0.152) Epithelial(23;8.3e-05)|all cancers(11;0.000383)|Colorectal(24;0.00387)|COAD - Colon adenocarcinoma(22;0.0113)|OV - Ovarian serous cystadenocarcinoma(11;0.0127)|LUSC - Lung squamous cell carcinoma(23;0.153) ACAGCTGGGCTGAACAAGATT 0.547 7 137 --- --- --- --- PASS KRTAP19-5 337972 broad.mit.edu 37 21 31874377 31874377 + Missense_Mutation SNP A C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr21:31874377A>C uc011ada.1 - 1 32 c.32T>G c.(31-33)CTG>CGG p.L11R NM_181611 NP_853642 Q3LI72 KR195_HUMAN keratin associated protein 19-5 11 intermediate filament protein binding 0 GCCGTAGCCCAGGCCTCCATA 0.567 23 86 --- --- --- --- PASS IFNAR2 3455 broad.mit.edu 37 21 34625014 34625014 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr21:34625014C>T uc002yrd.2 + 7 916 c.588C>T c.(586-588)ATC>ATT p.I196I IFNAR2_uc002yrb.2_Silent_p.I196I|IFNAR2_uc002yrc.2_Silent_p.I196I|IFNAR2_uc002yre.2_Silent_p.I196I|IFNAR2_uc002yrf.2_Silent_p.I196I|IFNAR2_uc002yrg.2_Silent_p.I65I|IL10RB_uc002yrh.1_Silent_p.I46I|IL10RB_uc002yri.1_5'UTR NM_207585 NP_997468 P48551 INAR2_HUMAN interferon alpha/beta receptor 2 isoform a 196 Extracellular (Potential). JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway extracellular region|extracellular space|integral to plasma membrane protein kinase binding|type I interferon binding|type I interferon receptor activity 0 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) TCACCTATATCATTGACAAGT 0.353 4 48 --- --- --- --- PASS SETD4 54093 broad.mit.edu 37 21 37418233 37418233 + Missense_Mutation SNP G C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr21:37418233G>C uc002yuw.1 - 5 1746 c.373C>G c.(373-375)CTT>GTT p.L125V SETD4_uc002yux.1_Missense_Mutation_p.L101V|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Missense_Mutation_p.L125V|SETD4_uc002yuy.2_Missense_Mutation_p.L125V|SETD4_uc002yuz.2_Missense_Mutation_p.L101V|SETD4_uc002yva.2_Missense_Mutation_p.L101V NM_017438 NP_059134 Q9NVD3 SETD4_HUMAN SET domain containing 4 isoform a 125 SET. large_intestine(1)|ovary(1) 2 GGCTTCCAAAGAGATCGGTGC 0.463 7 129 --- --- --- --- PASS DOPEY2 9980 broad.mit.edu 37 21 37591765 37591765 + Missense_Mutation SNP A G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr21:37591765A>G uc002yvg.2 + 10 1304 c.1225A>G c.(1225-1227)ACC>GCC p.T409A DOPEY2_uc011aeb.1_Missense_Mutation_p.T409A NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 409 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 ACTTAGCTACACCCAGAGTGG 0.463 19 112 --- --- --- --- PASS BRWD1 54014 broad.mit.edu 37 21 40570728 40570728 + Missense_Mutation SNP C G G TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr21:40570728C>G uc002yxk.1 - 40 5753 c.5614G>C c.(5614-5616)GAT>CAT p.D1872H BRWD1_uc010goc.1_Missense_Mutation_p.D515H|BRWD1_uc002yxl.2_Missense_Mutation_p.D1872H NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1872 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TTGTCATCATCTGAATCTAAA 0.338 13 75 --- --- --- --- PASS DSCAM 1826 broad.mit.edu 37 21 41385159 41385159 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr21:41385159C>T uc002yyq.1 - 33 6293 c.5841G>A c.(5839-5841)CCG>CCA p.P1947P DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1947 Cytoplasmic (Potential). HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CGGCTTCCATCGGGATGGGCT 0.657 6 52 --- --- --- --- PASS MX2 4600 broad.mit.edu 37 21 42779983 42779983 + Missense_Mutation SNP T A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr21:42779983T>A uc002yzf.1 + 14 2075 c.1971T>A c.(1969-1971)AAT>AAA p.N657K MX2_uc002yzg.1_Missense_Mutation_p.N380K|MX2_uc010gop.1_Missense_Mutation_p.N139K NM_002463 NP_002454 P20592 MX2_HUMAN myxovirus resistance protein 2 657 GED. response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity ovary(2) 2 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) TCCGAGAGAATGGTGACTCCT 0.463 15 97 --- --- --- --- PASS AIRE 326 broad.mit.edu 37 21 45709879 45709879 + Silent SNP T C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr21:45709879T>C uc002zei.2 + 7 934 c.807T>C c.(805-807)GGT>GGC p.G269G AIRE_uc010gpq.2_5'Flank|AIRE_uc002zej.2_5'Flank|AIRE_uc010gpr.2_5'Flank NM_000383 NP_000374 O43918 AIRE_HUMAN autoimmune regulator isoform 1 269 SAND. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding skin(1) 1 Colorectal(79;0.0806) AGGGTGGAGGTGAGGCTAGGC 0.692 Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy 5 18 --- --- --- --- PASS CECR2 27443 broad.mit.edu 37 22 18022478 18022478 + Missense_Mutation SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr22:18022478C>A uc010gqw.1 + 15 2706 c.2580C>A c.(2578-2580)AGC>AGA p.S860R CECR2_uc010gqv.1_Missense_Mutation_p.S719R|CECR2_uc002zml.2_Missense_Mutation_p.S719R NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 902 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) TGATGGACAGCCCAGAGATGA 0.632 14 66 --- --- --- --- PASS ZNF280A 129025 broad.mit.edu 37 22 22869714 22869714 + Nonsense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr22:22869714G>A uc002zwe.2 - 2 494 c.241C>T c.(241-243)CAA>TAA p.Q81* LOC96610_uc011aim.1_Intron NM_080740 NP_542778 P59817 Z280A_HUMAN zinc finger protein 280A 81 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) GCAGGATATTGACGGAAGTGG 0.473 25 109 --- --- --- --- PASS PISD 23761 broad.mit.edu 37 22 32015789 32015789 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr22:32015789C>T uc003alm.3 - 8 1046 c.1039G>A c.(1039-1041)GGC>AGC p.G347S PISD_uc003alk.2_Missense_Mutation_p.G313S|PISD_uc003all.2_Missense_Mutation_p.G258E|PISD_uc011alr.1_Missense_Mutation_p.G312S|PISD_uc003aln.3_Missense_Mutation_p.G309S NM_014338 NP_055153 Q9UG56 PISD_HUMAN phosphatidylserine decarboxylase 347 phospholipid biosynthetic process mitochondrion phosphatidylserine decarboxylase activity central_nervous_system(2)|ovary(1) 3 Phosphatidylserine(DB00144) TTGTAGGAGCCCTTGCTGTGC 0.607 10 45 --- --- --- --- PASS MGAT3 4248 broad.mit.edu 37 22 39884490 39884490 + Missense_Mutation SNP C T T rs149871838 TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr22:39884490C>T uc003axv.3 + 2 1377 c.1138C>T c.(1138-1140)CGC>TGC p.R380C MGAT3_uc010gxy.2_Missense_Mutation_p.R380C NM_002409 NP_002400 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein 380 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity 0 Melanoma(58;0.04) GGACGGCATCCGCCTGCGCCG 0.647 8 71 --- --- --- --- PASS TNRC6B 23112 broad.mit.edu 37 22 40706902 40706902 + Missense_Mutation SNP G T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chr22:40706902G>T uc011aor.1 + 17 4551 c.4340G>T c.(4339-4341)GGC>GTC p.G1447V TNRC6B_uc003aym.2_Missense_Mutation_p.G643V|TNRC6B_uc003ayn.3_Missense_Mutation_p.G1337V|TNRC6B_uc003ayo.2_Missense_Mutation_p.G1194V NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 1447 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 ACACTGGGTGGCCATACGGGT 0.507 4 26 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 31497149 31497149 + Silent SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chrX:31497149C>A uc004dda.1 - 58 8863 c.8619G>T c.(8617-8619)CTG>CTT p.L2873L DMD_uc004dcq.1_Silent_p.L144L|DMD_uc004dcr.1_Silent_p.L413L|DMD_uc004dcs.1_Silent_p.L413L|DMD_uc004dct.1_Silent_p.L413L|DMD_uc004dcu.1_Silent_p.L413L|DMD_uc004dcv.1_Silent_p.L413L|DMD_uc004dcw.2_Silent_p.L1529L|DMD_uc004dcx.2_Silent_p.L1532L|DMD_uc004dcz.2_Silent_p.L2750L|DMD_uc004dcy.1_Silent_p.L2869L|DMD_uc004ddb.1_Silent_p.L2865L NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2873 Spectrin 20. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GCTGCTCTGTCAGAAATATTC 0.393 7 61 --- --- --- --- PASS USP9X 8239 broad.mit.edu 37 X 41078486 41078486 + Splice_Site SNP T A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chrX:41078486T>A uc004dfb.2 + 38 7198 c.6565_splice c.e38+2 p.G2189_splice USP9X_uc004dfc.2_Splice_Site_p.G2189_splice NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 CCAATTTAGGTAAGAATTTAA 0.323 7 47 --- --- --- --- PASS DGKK 139189 broad.mit.edu 37 X 50165475 50165475 + Missense_Mutation SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chrX:50165475C>A uc010njr.1 - 3 866 c.806G>T c.(805-807)AGC>ATC p.S269I NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 269 PH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) TCTACAGCTGCTTTCTGCCAC 0.463 6 100 --- --- --- --- PASS GPR173 54328 broad.mit.edu 37 X 53106694 53106694 + Silent SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chrX:53106694C>A uc004dru.2 + 2 1149 c.891C>A c.(889-891)CTC>CTA p.L297L NM_018969 NP_061842 Q9NS66 GP173_HUMAN G protein-coupled receptor 173 297 Helical; Name=6; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 TCTTTCTGCTCCTCTGGTCAC 0.597 5 36 --- --- --- --- PASS FGD1 2245 broad.mit.edu 37 X 54472818 54472818 + Silent SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chrX:54472818G>A uc004dtg.2 - 18 3344 c.2610C>T c.(2608-2610)CTC>CTT p.L870L NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 870 PH 2. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 CGAAGCCAATGAGGGGCAGGC 0.647 5 32 --- --- --- --- PASS MAGED2 10916 broad.mit.edu 37 X 54841172 54841172 + Missense_Mutation SNP G T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chrX:54841172G>T uc004dtk.1 + 11 1444 c.1350G>T c.(1348-1350)GAG>GAT p.E450D MAGED2_uc004dtl.1_Missense_Mutation_p.E450D|MAGED2_uc004dtm.1_Missense_Mutation_p.E365D|MAGED2_uc010nkc.1_Missense_Mutation_p.R415I|MAGED2_uc004dtn.1_Missense_Mutation_p.E450D|MAGED2_uc004dto.1_Missense_Mutation_p.E424D NM_177433 NP_803182 Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 450 MAGE. ovary(2)|breast(1) 3 CTTACTATGAGACCAGCAAGA 0.532 5 65 --- --- --- --- PASS ZXDA 7789 broad.mit.edu 37 X 57935713 57935713 + Missense_Mutation SNP C A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chrX:57935713C>A uc004dve.2 - 1 1355 c.1142G>T c.(1141-1143)AGC>ATC p.S381I NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 381 C2H2-type 4.|Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 TTCGAAGTGGCTGCGCTGGTG 0.567 20 115 --- --- --- --- PASS AR 367 broad.mit.edu 37 X 66766199 66766199 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chrX:66766199C>T uc004dwu.1 + 1 2326 c.1211C>T c.(1210-1212)GCG>GTG p.A404V AR_uc011mpd.1_Missense_Mutation_p.A404V|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.A404V NM_000044 NP_000035 P10275 ANDR_HUMAN androgen receptor isoform 1 402 Modulating.|Poly-Ala. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding ovary(3)|lung(2)|breast(2)|central_nervous_system(1) 8 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) GCTGCGGCGGCGCAGTGCCGC 0.736 Androgen_Insensitivity_Syndrome 3 6 --- --- --- --- PASS IL2RG 3561 broad.mit.edu 37 X 70328193 70328193 + Silent SNP C T T rs148001866 TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chrX:70328193C>T uc004dyw.1 - 7 872 c.858G>A c.(856-858)ACG>ACA p.T286T CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Silent_p.T15T|IL2RG_uc004dyx.1_Silent_p.T96T NM_000206 NP_000197 P31785 IL2RG_HUMAN interleukin 2 receptor, gamma precursor 286 Box 1 motif.|Cytoplasmic (Potential). immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms external side of plasma membrane|integral to plasma membrane cytokine receptor activity|interleukin-2 binding pancreas(1) 1 Renal(35;0.156) Aldesleukin(DB00041)|Denileukin diftitox(DB00004) TTCGGGGCATCGTCCTGACAG 0.463 Severe_Combined_Immunodeficiency_X-linked 5 87 --- --- --- --- PASS TSIX 9383 broad.mit.edu 37 X 73043423 73043423 + RNA SNP T C C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chrX:73043423T>C uc004ebn.2 + 1 c.31384T>C XIST_uc004ebm.1_RNA NR_003255 Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA. 0 CCTTTACTTCTGTAGGCCAGG 0.274 15 102 --- --- --- --- PASS MAGT1 84061 broad.mit.edu 37 X 77150848 77150848 + Silent SNP G T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chrX:77150848G>T uc004fof.2 - 1 218 c.156C>A c.(154-156)ATC>ATA p.I52I MAGT1_uc004fog.3_RNA|MAGT1_uc004ect.3_Silent_p.I52I NM_032121 NP_115497 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 20 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex upper_aerodigestive_tract(1) 1 CGTCGCAAACGATGAGCAGCG 0.557 6 42 --- --- --- --- PASS BRWD3 254065 broad.mit.edu 37 X 80064747 80064747 + Nonsense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chrX:80064747G>A uc004edt.2 - 2 351 c.88C>T c.(88-90)CAG>TAG p.Q30* BRWD3_uc004edo.2_5'Flank|BRWD3_uc004edp.2_5'Flank|BRWD3_uc004edq.2_5'Flank|BRWD3_uc010nmj.1_5'Flank|BRWD3_uc004edr.2_5'Flank|BRWD3_uc004eds.2_5'Flank|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_5'UTR NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 30 ovary(4) 4 CCCCTTACCTGAGCGGATTTG 0.557 4 14 --- --- --- --- PASS TCEAL3 85012 broad.mit.edu 37 X 102864065 102864065 + Missense_Mutation SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chrX:102864065G>A uc004ekq.2 + 3 335 c.73G>A c.(73-75)GAT>AAT p.D25N TCEAL3_uc004ekr.2_Missense_Mutation_p.D25N NM_001006933 NP_001006934 Q969E4 TCAL3_HUMAN transcription elongation factor A (SII)-like 3 25 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 agtagagcctgatgatgaagg 0.144 10 30 --- --- --- --- PASS GUCY2F 2986 broad.mit.edu 37 X 108719118 108719118 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chrX:108719118C>T uc004eod.3 - 2 324 c.48G>A c.(46-48)GCG>GCA p.A16A GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 16 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 TCCTGAAAGCCGCAAACCAGA 0.542 OREG0019905 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 87 --- --- --- --- PASS CHRDL1 91851 broad.mit.edu 37 X 109937485 109937485 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chrX:109937485C>T uc004eou.3 - 8 1033 c.684G>A c.(682-684)GGG>GGA p.G228G CHRDL1_uc004eov.2_Silent_p.G222G|CHRDL1_uc004eow.2_Silent_p.G227G|CHRDL1_uc010nps.2_Silent_p.G227G|CHRDL1_uc004eot.2_Silent_p.G148G|CHRDL1_uc011mss.1_Silent_p.G142G NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor 221 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 GACTTCTGGCCCCAGGAAAGC 0.478 32 139 --- --- --- --- PASS LHFPL1 340596 broad.mit.edu 37 X 111914294 111914294 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chrX:111914294C>T uc004epq.2 - 2 658 c.325G>A c.(325-327)GAG>AAG p.E109K LHFPL1_uc004epp.2_Missense_Mutation_p.E132K|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Missense_Mutation_p.E109K NM_178175 NP_835469 Q86WI0 LHPL1_HUMAN lipoma HMGIC fusion partner-like 1 precursor 109 integral to membrane 0 ATGAGCTCCTCCATGCAGCAA 0.582 14 68 --- --- --- --- PASS FAM70A 55026 broad.mit.edu 37 X 119410745 119410745 + Missense_Mutation SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chrX:119410745C>T uc004eso.3 - 8 969 c.742G>A c.(742-744)GAC>AAC p.D248N FAM70A_uc004esp.3_Missense_Mutation_p.D224N|FAM70A_uc010nqo.2_Intron NM_017938 NP_060408 Q5JRV8 FA70A_HUMAN hypothetical protein LOC55026 isoform 1 248 integral to membrane lung(1)|breast(1) 2 CTTACCATGTCCTTAAAGCCT 0.502 9 95 --- --- --- --- PASS ATP1B4 23439 broad.mit.edu 37 X 119504619 119504619 + Silent SNP G A A TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chrX:119504619G>A uc004esr.2 + 3 462 c.378G>A c.(376-378)GTG>GTA p.V126V ATP1B4_uc004esq.2_Silent_p.V122V|ATP1B4_uc011mtx.1_Silent_p.V91V|ATP1B4_uc011mty.1_Intron NM_001142447 NP_001135919 Q9UN42 AT1B4_HUMAN ATPase, (Na+)/K+ transporting, beta 4 126 Helical; Signal-anchor for type II membrane protein; (Potential). ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity ovary(1)|skin(1) 2 TGGCTGCTGTGATCACCCTCT 0.502 12 376 --- --- --- --- PASS MAGEC3 139081 broad.mit.edu 37 X 140985257 140985257 + Silent SNP G T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chrX:140985257G>T uc011mwp.1 + 7 1713 c.1713G>T c.(1711-1713)GTG>GTT p.V571V MAGEC3_uc004fbs.2_Silent_p.V273V|MAGEC3_uc010nsj.2_Silent_p.V273V NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 571 MAGE 2. skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TCTGGGAAGTGTTGAGTGCAA 0.493 23 184 --- --- --- --- PASS RPL10 6134 broad.mit.edu 37 X 153628196 153628196 + Silent SNP C T T TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx 388478e9-8c1f-43f8-88c4-811bf3cc2500 829ea6e6-1737-4fc6-8732-65e2d7fb2582 g.chrX:153628196C>T uc004fkm.2 + 5 431 c.243C>T c.(241-243)GGC>GGT p.G81G uc010nuv.1_5'Flank|RPL10_uc004fko.2_Silent_p.G81G|RPL10_uc004fkn.1_Silent_p.G81G|RPL10_uc004fkp.1_Silent_p.G81G|RPL10_uc004fkq.1_RNA|RPL10_uc004fkr.1_Silent_p.G6G|SNORA70_uc010nux.1_5'Flank NM_006013 NP_006004 P27635 RL10_HUMAN ribosomal protein L10 81 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|endoplasmic reticulum structural constituent of ribosome 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AAAGTTGTGGCAAAGATGGCT 0.507 14 110 --- --- --- --- PASS