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 pox qox isArtifactMode oxoGCut CLCNKA 1187 broad.mit.edu 37 1 16357081 16357081 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:16357081G>T uc001axu.2 + 15 1614 c.1534G>T c.(1534-1536)GCA>TCA p.A512S CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.A512S|CLCNKA_uc010obw.1_Missense_Mutation_p.A469S|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010obx.1_Missense_Mutation_p.A159S|CLCNKA_uc010oby.1_Missense_Mutation_p.A248S NM_004070 NP_004061 P51800 CLCKA_HUMAN chloride channel Ka isoform 1 512 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CAACGCCATTGCACAGAGCTG 0.612 NA 27 19 4.6e-10 6.93e-10 1 0 NBPF1 55672 broad.mit.edu 37 1 16890588 16890588 + Silent SNP T T A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:16890588T>A uc009vos.1 - 31 4383 c.3495A>T c.(3493-3495)CTA>CTT p.L1165L uc001ayw.2_5'Flank NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 1165 NBPF 8. cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) ATGAGTCAGGTAGTTCAAAGT 0.463 NA 47 673 0 0 0 0 MAP3K6 9064 broad.mit.edu 37 1 27684364 27684364 + Silent SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:27684364C>A uc001bny.1 - 22 3168 c.2919G>T c.(2917-2919)GTG>GTT p.V973V MAP3K6_uc009vsw.1_Silent_p.V965V NM_004672 NP_004663 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 973 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|lung(3)|ovary(1)|central_nervous_system(1) 9 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) GCTCCTCGGGCACCCTGGGCA 0.657 NA OREG0013282 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 2 0.00116845 0.00154758 1 0 BAI2 576 broad.mit.edu 37 1 32221746 32221746 + Missense_Mutation SNP G G C rs149675901 TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:32221746G>C uc001btn.2 - 4 1046 c.692C>G c.(691-693)GCC>GGC p.A231G BAI2_uc010ogp.1_Missense_Mutation_p.A219G|BAI2_uc010ogq.1_Missense_Mutation_p.A231G|BAI2_uc001bto.2_Missense_Mutation_p.A231G|BAI2_uc001btq.1_Missense_Mutation_p.A219G|BAI2_uc010ogr.1_Missense_Mutation_p.A219G NM_001703 NP_001694 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 231 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1) 13 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) GGTGGAGCCGGCCCCCGCCTC 0.711 NA 5 41 0 0 0 0 DLGAP3 58512 broad.mit.edu 37 1 35333227 35333227 + Silent SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:35333227G>T uc001byc.2 - 8 2487 c.2487C>A c.(2485-2487)ATC>ATA p.I829I NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 829 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) TCTTCTCCAGGACTAGAAAGC 0.557 NA 67 23 2.73e-28 4.7e-28 1 0 OXCT2 64064 broad.mit.edu 37 1 40235514 40235514 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:40235514C>T uc001ceb.1 - 1 1507 c.1414G>A c.(1414-1416)GTG>ATG p.V472M BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron|OXCT2_uc009vvu.1_Missense_Mutation_p.V466M NM_022120 NP_071403 Q9BYC2 SCOT2_HUMAN 3-oxoacid CoA transferase 2 precursor 472 ketone body catabolic process microtubule-based flagellum|mitochondrion 3-oxoacid CoA-transferase activity pancreas(1) 1 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) Succinic acid(DB00139) ACGTCAAACACGGCCTTCTCG 0.587 NA 83 44 0 0 0 0 RLF 6018 broad.mit.edu 37 1 40705148 40705148 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:40705148G>A uc001cfc.3 + 8 4805 c.4774G>A c.(4774-4776)GTT>ATT p.V1592I RLF_uc001cfd.3_Missense_Mutation_p.V1283I NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 1592 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) TGTTGTTTGCGTTAAGTACGG 0.428 NA 21 98 0 0 0 0 MOBKL2C 148932 broad.mit.edu 37 1 47078896 47078896 + Missense_Mutation SNP T T G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:47078896T>G uc001cqf.3 - 2 329 c.98A>C c.(97-99)AAG>ACG p.K33T MKNK1_uc010omf.1_Intron|MOBKL2C_uc001cqe.3_Missense_Mutation_p.K85T NM_201403 NP_958805 Q70IA8 MOL2C_HUMAN MOB1, Mps One Binder kinase activator-like 2C 33 metal ion binding pancreas(1) 1 Acute lymphoblastic leukemia(166;0.155) GGCCTGTGCCTTCTTGTACAG 0.637 NA 24 18 0 0 0 0 ZRANB2 9406 broad.mit.edu 37 1 71544178 71544178 + Missense_Mutation SNP G G C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:71544178G>C uc001dft.2 - 3 247 c.180C>G c.(178-180)AGC>AGG p.S60R uc001dfu.1_5'Flank|ZRANB2_uc001dfs.2_Missense_Mutation_p.S60R NM_203350 NP_976225 O95218 ZRAB2_HUMAN zinc finger protein 265 isoform 1 60 mRNA processing|RNA splicing nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 ATAGGCCTCGGCTCTTTTCTG 0.378 NA 8 59 0 0 0 0 C1orf103 55791 broad.mit.edu 37 1 111490596 111490596 + Silent SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:111490596C>T uc001eaa.2 - 4 2551 c.2295G>A c.(2293-2295)AAG>AAA p.K765K C1orf103_uc001dzz.2_Silent_p.K229K|C1orf103_uc001eab.2_Silent_p.K229K|C1orf103_uc001eac.1_Silent_p.K228K NM_018372 NP_060842 Q5T3J3 LRIF1_HUMAN receptor-interacting factor 1 isoform 1 765 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding 0 all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451) Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134) TTTGGTGCATCTTCTTACGCA 0.348 NA 20 79 0 0 0 0 MAGI3 260425 broad.mit.edu 37 1 114193672 114193672 + Nonsense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:114193672G>T uc001edk.2 + 14 2465 c.2284G>T c.(2284-2286)GAG>TAG p.E762* MAGI3_uc001edh.3_Nonsense_Mutation_p.E787*|MAGI3_uc001edi.3_Nonsense_Mutation_p.E762*|MAGI3_uc010owm.1_Nonsense_Mutation_p.E787*|MAGI3_uc001edj.2_Nonsense_Mutation_p.E483* NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 787 Interaction with BAI1.|PDZ 4. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GGGAGCAGCTGAGAAAGATGG 0.418 NA 18 20 2.94e-08 4.29e-08 1 0 SYCP1 6847 broad.mit.edu 37 1 115537355 115537355 + Missense_Mutation SNP T T A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:115537355T>A uc001efr.2 + 31 2949 c.2740T>A c.(2740-2742)TAT>AAT p.Y914N SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.Y914N|SYCP1_uc009wgw.2_Missense_Mutation_p.Y889N NM_003176 NP_003167 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 914 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GAAAACACTGTATAGGAACAA 0.284 NA 22 7 0 0 0 0 SPAG17 200162 broad.mit.edu 37 1 118537063 118537063 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:118537063C>A uc001ehk.2 - 35 5212 c.5144G>T c.(5143-5145)CGG>CTG p.R1715L NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1715 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TGACCTTGACCGGAGATTAGG 0.423 NA 13 12 1.5e-05 2.08e-05 1 0 HMGCS2 3158 broad.mit.edu 37 1 120311418 120311418 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:120311418G>A uc001eid.2 - 1 101 c.50C>T c.(49-51)GCG>GTG p.A17V HMGCS2_uc010oxj.1_Missense_Mutation_p.A17V NM_005518 NP_005509 P54868 HMCS2_HUMAN hydroxymethylglutaryl-CoA synthase 2 isoform 1 17 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity ovary(2) 2 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) TTCCTGCACCGCTCTTGTCAG 0.517 NA 8 25 0 0 0 0 FCRL4 83417 broad.mit.edu 37 1 157551393 157551393 + Missense_Mutation SNP T T A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:157551393T>A uc001fqw.2 - 7 1313 c.1177A>T c.(1177-1179)ACT>TCT p.T393S FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 393 Helical; (Potential). integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) AGCCCTCCAGTGGCTCCCGCG 0.572 NA 33 18 0 0 0 0 FCRL1 115350 broad.mit.edu 37 1 157771764 157771764 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:157771764C>A uc001frg.2 - 5 940 c.827G>T c.(826-828)TGT>TTT p.C276F FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.C276F|FCRL1_uc001fri.2_Missense_Mutation_p.C276F|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 276 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GTTGGCCTCACAGGAGTAGTT 0.557 NA 55 63 1.96e-22 3.33e-22 1 0 CD5L 922 broad.mit.edu 37 1 157803236 157803236 + Missense_Mutation SNP T T C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:157803236T>C uc001frk.3 - 5 928 c.785A>G c.(784-786)AAG>AGG p.K262R NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 262 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCATACGCCCTTGTGCAGCAC 0.572 NA 89 91 0 0 0 0 CD1C 911 broad.mit.edu 37 1 158263029 158263029 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:158263029C>A uc001fru.2 + 5 1209 c.917C>A c.(916-918)GCC>GAC p.A306D CD1C_uc001frv.2_Intron NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 306 Helical; (Potential). antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) AATTGGATTGCCTTGGTAGTG 0.398 NA 60 197 4.66e-34 8.1e-34 1 0 OR10T2 128360 broad.mit.edu 37 1 158368630 158368630 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:158368630C>G uc010pih.1 - 1 627 c.627G>C c.(625-627)ATG>ATC p.M209I NM_001004475 NP_001004475 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, 209 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_hematologic(112;0.0378) GAAAAGGCACCATAATTACCA 0.458 NA 9 54 0 0 0 0 SPTA1 6708 broad.mit.edu 37 1 158607983 158607983 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:158607983C>T uc001fst.1 - 36 5228 c.5029G>A c.(5029-5031)GGG>AGG p.G1677R NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1677 Spectrin 16. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TTGAAAGTCCCGCTGGAGAGC 0.413 NA 22 45 0 0 0 0 FCER1A 2205 broad.mit.edu 37 1 159277544 159277544 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:159277544G>T uc001ftq.2 + 6 695 c.596G>T c.(595-597)CGT>CTT p.R199L NM_002001 NP_001992 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor 199 Extracellular (Potential). integral to plasma membrane lung(2)|skin(2)|prostate(1) 5 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) ACAGCTCCGCGTGAGAAGTAC 0.413 NA 51 49 1.54e-34 2.69e-34 1 0 RXRG 6258 broad.mit.edu 37 1 165398110 165398110 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:165398110G>T uc001gda.2 - 2 443 c.143C>A c.(142-144)ACC>AAC p.T48N NM_006917 NP_008848 P48443 RXRG_HUMAN retinoid X receptor, gamma isoform a 48 Modulating (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) ACTCACTGGGGTATCTGTGTA 0.612 NA 8 51 1.13e-05 1.58e-05 1 0 SFT2D2 375035 broad.mit.edu 37 1 168200757 168200757 + Silent SNP T T C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:168200757T>C uc001gfi.3 + 2 132 c.69T>C c.(67-69)GTT>GTC p.V23V TBX19_uc001gfj.3_Intron NM_199344 NP_955376 O95562 SFT2B_HUMAN SFT2 domain containing 2 23 Cytoplasmic (Potential). protein transport|vesicle-mediated transport integral to membrane skin(1) 1 all_hematologic(923;0.215) TTTAGGTTGTTGAGGCATCTT 0.348 NA 48 52 0 0 0 0 SELP 6403 broad.mit.edu 37 1 169586541 169586541 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:169586541G>T uc001ggi.3 - 3 271 c.206C>A c.(205-207)GCC>GAC p.A69D SELP_uc001ggh.2_5'UTR|SELP_uc009wvr.2_Missense_Mutation_p.A69D NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 69 Extracellular (Potential).|C-type lectin. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) ATTCTGGATGGCCACTAAGTC 0.408 NA 55 142 6.31e-27 1.08e-26 1 0 FMO4 2329 broad.mit.edu 37 1 171300851 171300851 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:171300851G>A uc001gho.2 + 6 774 c.557G>A c.(556-558)CGC>CAC p.R186H NM_002022 NP_002013 P31512 FMO4_HUMAN flavin containing monooxygenase 4 186 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding kidney(2)|skin(1) 3 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CAGGGCAAACGCGTCTTGGTG 0.463 NA 25 153 0 0 0 0 RALGPS2 55103 broad.mit.edu 37 1 178871291 178871291 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:178871291G>A uc001glz.2 + 18 1913 c.1575G>A c.(1573-1575)ATG>ATA p.M525I RALGPS2_uc010pnb.1_Missense_Mutation_p.M499I NM_152663 NP_689876 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 525 Required for stimulation of nucleotide exchange by RALA (By similarity).|PH. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding 0 GGATGGTGATGATGGCTGATG 0.383 NA 10 86 0 0 0 0 CACNA1E 777 broad.mit.edu 37 1 181702849 181702849 + Silent SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:181702849C>T uc001gow.2 + 21 3390 c.3225C>T c.(3223-3225)CCC>CCT p.P1075P CACNA1E_uc009wxs.2_Silent_p.P963P|CACNA1E_uc001gox.1_Silent_p.P301P|CACNA1E_uc009wxt.2_Silent_p.P301P NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1075 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TCGCCATCCCCGACGTGGACC 0.652 NA 12 28 0 0 0 0 CRB1 23418 broad.mit.edu 37 1 197390857 197390857 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:197390857G>A uc001gtz.2 + 6 2034 c.1899G>A c.(1897-1899)ATG>ATA p.M633I CRB1_uc010poz.1_Missense_Mutation_p.M564I|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.M521I|CRB1_uc010ppb.1_Missense_Mutation_p.M633I|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.M114I|CRB1_uc001gub.1_Missense_Mutation_p.M282I NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 633 Extracellular (Potential).|Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 TCTATAATATGCCATCCACAC 0.403 NA 44 87 0 0 0 0 FAM58B 339521 broad.mit.edu 37 1 200183121 200183121 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:200183121C>A uc009wzi.1 + 1 466 c.430C>A c.(430-432)CAT>AAT p.H144N NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN family with sequence similarity 58 member B 144 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 Prostate(682;0.19) CTCCTTCCAGCATCCACACAA 0.612 NA 25 35 9.86e-18 1.62e-17 1 0 ATP2B4 493 broad.mit.edu 37 1 203708793 203708793 + Silent SNP A A G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:203708793A>G uc001gzw.2 + 21 4313 c.3429A>G c.(3427-3429)CCA>CCG p.P1143P ATP2B4_uc001gzv.2_3'UTR|ATP2B4_uc001gzx.2_Silent_p.P210P|ATP2B4_uc009xar.2_3'UTR NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 1179 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) AGGAGTTGCCACGAACACCAC 0.502 NA 23 51 0 0 0 0 KCNH1 3756 broad.mit.edu 37 1 211263942 211263942 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:211263942G>A uc001hib.2 - 4 571 c.401C>T c.(400-402)ACA>ATA p.T134I KCNH1_uc001hic.2_Missense_Mutation_p.T134I NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 134 PAC.|Cytoplasmic (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TTTGAAAGCTGTTATGTCACT 0.358 NA 18 24 0 0 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232577560 232577560 + Silent SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:232577560G>A uc001hvg.2 - 11 3650 c.3492C>T c.(3490-3492)GAC>GAT p.D1164D SIPA1L2_uc001hvf.2_Silent_p.D238D NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1164 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CCCTGGCTCCGTCACATTCCA 0.567 NA 5 29 0 0 0 0 CHRM3 1131 broad.mit.edu 37 1 240072502 240072502 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:240072502G>A uc001hyp.2 + 5 2530 c.1751G>A c.(1750-1752)CGC>CAC p.R584H NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 584 Cytoplasmic (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TTTCACAAGCGCGCACCCGAG 0.522 NA 9 40 0 0 0 0 HNRNPU 3192 broad.mit.edu 37 1 245026026 245026026 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:245026026C>G uc001iaz.1 - 2 916 c.698G>C c.(697-699)GGC>GCC p.G233A HNRNPU_uc001iax.1_5'Flank|HNRNPU_uc001iay.1_5'Flank|HNRNPU_uc001iba.1_Missense_Mutation_p.G214A|HNRNPU_uc001ibb.1_5'UTR NM_031844 NP_114032 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U 233 CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding 0 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) TTCTGTTTTGCCGTCCCCTAA 0.443 NA 47 77 0 0 0 0 OR2W5 441932 broad.mit.edu 37 1 247655122 247655122 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:247655122C>A uc001icz.1 + 1 693 c.693C>A c.(691-693)AGC>AGA p.S231R NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) ATGAAGTCAGCAGCAGGGCGA 0.577 NA 27 61 1.43e-11 2.2e-11 1 0 OR2M2 391194 broad.mit.edu 37 1 248343988 248343988 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:248343988G>A uc010pzf.1 + 1 701 c.701G>A c.(700-702)CGT>CAT p.R234H NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 234 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 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) GGAGAGGGTCGTTGCAAAGCT 0.468 NA 46 49 0 0 0 0 PRKCQ 5588 broad.mit.edu 37 10 6521108 6521108 + Missense_Mutation SNP T T A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:6521108T>A uc001ijj.1 - 12 1274 c.1199A>T c.(1198-1200)AAG>ATG p.K400M PRKCQ_uc009xim.1_Missense_Mutation_p.K400M|PRKCQ_uc001iji.1_Missense_Mutation_p.K433M|PRKCQ_uc009xin.1_Missense_Mutation_p.K364M|PRKCQ_uc010qax.1_Missense_Mutation_p.K275M NM_006257 NP_006248 Q04759 KPCT_HUMAN protein kinase C, theta 400 Protein kinase. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity ovary(3)|lung(2)|large_intestine(1) 6 ATTGGTTTTCTTGAATTCTGC 0.388 NA 18 34 0 0 0 0 SFMBT2 57713 broad.mit.edu 37 10 7239525 7239525 + Silent SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:7239525C>G uc009xio.1 - 15 1774 c.1683G>C c.(1681-1683)GTG>GTC p.V561V SFMBT2_uc001ijn.1_Silent_p.V561V|SFMBT2_uc010qay.1_Intron NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 561 regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 TAAGAACCAGCACGCATTTGC 0.483 NA 31 58 0 0 0 0 MCM10 55388 broad.mit.edu 37 10 13222601 13222601 + Silent SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:13222601G>T uc001ima.2 + 7 1028 c.927G>T c.(925-927)GTG>GTT p.V309V MCM10_uc001imb.2_Silent_p.V308V|MCM10_uc001imc.2_Silent_p.V308V NM_182751 NP_877428 Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 309 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 CACAGAGTGTGAATAGTGTAA 0.408 NA 35 77 8.74e-17 1.42e-16 1 0 TRDMT1 1787 broad.mit.edu 37 10 17199734 17199734 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:17199734G>T uc001iop.2 - 8 641 c.593C>A c.(592-594)GCA>GAA p.A198E TRDMT1_uc001ioq.2_Missense_Mutation_p.A174E|TRDMT1_uc001ior.2_Missense_Mutation_p.A152E|TRDMT1_uc001ios.2_Missense_Mutation_p.A127E|TRDMT1_uc009xjt.2_Missense_Mutation_p.A117E|TRDMT1_uc010qcc.1_Missense_Mutation_p.A127E|TRDMT1_uc010qcd.1_Missense_Mutation_p.A75E NM_004412 NP_004403 O14717 TRDMT_HUMAN tRNA aspartic acid methyltransferase 1 isoform 198 tRNA processing nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding ovary(1) 1 TACATCCATTGCATATTTTTG 0.318 NA 14 18 4.38e-07 6.29e-07 1 0 CACNB2 783 broad.mit.edu 37 10 18807304 18807304 + Silent SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:18807304C>A uc001ipr.2 + 8 904 c.844C>A c.(844-846)CGA>AGA p.R282R CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Silent_p.R258R|CACNB2_uc001ipt.2_Silent_p.R244R|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Silent_p.R254R|CACNB2_uc001ipv.2_Silent_p.R230R|CACNB2_uc009xka.1_Silent_p.R216R|CACNB2_uc001ipw.2_Silent_p.R189R|CACNB2_uc001ipx.2_Silent_p.R227R|CACNB2_uc009xkb.1_3'UTR|CACNB2_uc010qcm.1_Silent_p.R228R|CACNB2_uc001ipz.2_Silent_p.R204R|CACNB2_uc001ipy.2_Silent_p.R228R|CACNB2_uc010qcn.1_Silent_p.R196R|CACNB2_uc010qco.1_Silent_p.R196R|CACNB2_uc001iqa.2_Silent_p.R234R|NSUN6_uc001iqb.2_Intron NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 282 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ACCTTCCATGCGACCAGTGGT 0.502 NA 44 91 3.77e-18 6.2e-18 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37430667 37430667 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:37430667C>A uc001iza.1 + 7 773 c.674C>A c.(673-675)CCT>CAT p.P225H NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 281 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 GCAGGAACACCTGATGAGGCT 0.363 NA 10 29 9.7e-10 1.45e-09 1 0 OR13A1 79290 broad.mit.edu 37 10 45799384 45799384 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:45799384C>A uc001jcc.1 - 4 796 c.487G>T c.(487-489)GCC>TCC p.A163S OR13A1_uc001jcd.1_Missense_Mutation_p.A159S NM_001004297 NP_001004297 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, 163 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACGGCTGTGGCCAGCCCGCTG 0.597 NA 18 40 1.87e-06 2.65e-06 1 0 FAM21B 55747 broad.mit.edu 37 10 47915915 47915915 + Nonsense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:47915915C>A uc009xni.2 + 15 1322 c.1322C>A c.(1321-1323)TCA>TAA p.S441* FAM21B_uc001jep.3_Nonsense_Mutation_p.S336* NM_018232 NP_060702 Q5SNT6 FA21B_HUMAN hypothetical protein LOC55747 441 retrograde transport, endosome to Golgi early endosome membrane|WASH complex ovary(1) 1 AAGCCCTCATCAGAAACAAAG 0.403 NA 11 130 7.93e-07 1.13e-06 1 0 SLC18A3 6572 broad.mit.edu 37 10 50819675 50819675 + Missense_Mutation SNP G G A rs149097990 TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:50819675G>A uc001jhw.2 + 1 1329 c.889G>A c.(889-891)GCG>ACG p.A297T CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 297 Helical; (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 GGTGGCCGGCGCGCTCACCAC 0.642 NA 25 44 0 0 0 0 A1CF 29974 broad.mit.edu 37 10 52619639 52619639 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:52619639C>T uc001jjj.2 - 3 250 c.62G>A c.(61-63)CGC>CAC p.R21H A1CF_uc010qhn.1_5'UTR|A1CF_uc001jji.2_Missense_Mutation_p.R21H|A1CF_uc001jjh.2_5'UTR|A1CF_uc010qho.1_5'UTR|A1CF_uc009xov.2_Missense_Mutation_p.R21H|A1CF_uc001jjk.1_Missense_Mutation_p.R21H NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 21 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 GACCAGTGCGCGGAGGGCTGC 0.478 NA 21 34 0 0 0 0 TMEM26 219623 broad.mit.edu 37 10 63212740 63212740 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:63212740G>T uc001jlo.2 - 1 469 c.100C>A c.(100-102)CCG>ACG p.P34T TMEM26_uc010qij.1_RNA|TMEM26_uc001jlq.2_RNA|uc001jlr.2_RNA NM_178505 NP_848600 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 34 integral to membrane 0 Prostate(12;0.0112) CAGTACCGCGGCTCCTTCTTC 0.607 NA 32 64 2e-19 3.34e-19 1 0 MYPN 84665 broad.mit.edu 37 10 69935118 69935118 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:69935118C>T uc001jnm.3 + 13 2788 c.2603C>T c.(2602-2604)CCT>CTT p.P868L MYPN_uc001jnn.3_Missense_Mutation_p.P593L|MYPN_uc001jno.3_Missense_Mutation_p.P868L|MYPN_uc009xpt.2_Missense_Mutation_p.P868L|MYPN_uc010qit.1_Missense_Mutation_p.P574L|MYPN_uc010qiu.1_Intron NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 868 nucleus|sarcomere actin binding ovary(3)|skin(2) 5 ACAAAGTCTCCTCAACCAGTG 0.433 NA 14 24 0 0 0 0 SLC25A16 8034 broad.mit.edu 37 10 70246946 70246946 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:70246946C>T uc001joi.2 - 8 1249 c.797G>A c.(796-798)CGG>CAG p.R266Q SLC25A16_uc010qix.1_Missense_Mutation_p.R132Q|SLC25A16_uc010qiy.1_Missense_Mutation_p.R168Q|SLC25A16_uc001joj.2_Missense_Mutation_p.R168Q NM_152707 NP_689920 P16260 GDC_HUMAN solute carrier family 25, member 16 266 Solcar 3. coenzyme biosynthetic process|pantothenate metabolic process integral to membrane|mitochondrial inner membrane binding|solute:solute antiporter activity 0 TTGCATTCGCCGACGAGTCAC 0.333 NA 52 125 0 0 0 0 SAR1A 56681 broad.mit.edu 37 10 71913632 71913632 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:71913632G>A uc010qjh.1 - 7 645 c.442C>T c.(442-444)CGT>TGT p.R148C SAR1A_uc010qji.1_Missense_Mutation_p.R148C|SAR1A_uc010qjj.1_Missense_Mutation_p.R105C NM_001142648 NP_001136120 Q9NR31 SAR1A_HUMAN SAR1a gene homolog 1 148 ER to Golgi vesicle-mediated transport|intracellular protein transport Golgi apparatus GTP binding|GTPase activity 0 AATATCTCACGGAGTTTTTCT 0.338 NA 31 196 0 0 0 0 KCNMA1 3778 broad.mit.edu 37 10 78674745 78674745 + Missense_Mutation SNP G G A rs143599540 by1000genomes TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:78674745G>A uc001jxn.2 - 24 3142 c.2965C>T c.(2965-2967)CGT>TGT p.R989C KCNMA1_uc001jxj.2_Missense_Mutation_p.R935C|KCNMA1_uc001jxk.1_Missense_Mutation_p.R607C|KCNMA1_uc009xrt.1_Missense_Mutation_p.R780C|KCNMA1_uc001jxl.1_Missense_Mutation_p.R614C|KCNMA1_uc001jxo.2_Missense_Mutation_p.R972C|KCNMA1_uc001jxm.2_Missense_Mutation_p.R931C|KCNMA1_uc001jxq.2_Missense_Mutation_p.R934C NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 989 Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) GATGGTTGACGTAACATCCCG 0.483 NA 22 167 0 0 0 0 RGR 5995 broad.mit.edu 37 10 86017674 86017674 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:86017674C>A uc001kdc.1 + 6 694 c.656C>A c.(655-657)ACG>AAG p.T219K RGR_uc001kdd.1_Missense_Mutation_p.T223K|RGR_uc001kde.1_Intron NM_001012720 NP_001012738 P47804 RGR_HUMAN retinal G-protein coupled receptor isoform 2 219 Cytoplasmic (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding ovary(1) 1 CCAGCAAGGACGCTGCTGCTC 0.552 NA 11 35 1.09e-07 1.57e-07 1 0 PDLIM1 9124 broad.mit.edu 37 10 97050586 97050586 + Silent SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:97050586G>A uc001kkh.2 - 1 196 c.87C>T c.(85-87)GCC>GCT p.A29A PDLIM1_uc001kki.2_Silent_p.A29A|PDLIM1_uc009xuv.2_Silent_p.A29A|PDLIM1_uc001kkj.1_Silent_p.A29A NM_020992 NP_066272 O00151 PDLI1_HUMAN PDZ and LIM domain 1 29 PDZ. response to oxidative stress cytoplasm|cytoskeleton zinc ion binding 0 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) CCCGGGAAATGGCGAGAGGCT 0.706 NA 9 21 0 0 0 0 TCTN3 26123 broad.mit.edu 37 10 97440281 97440281 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:97440281G>A uc001klb.3 - 13 1782 c.1538C>T c.(1537-1539)CCG>CTG p.P513L TCTN3_uc001kla.3_Missense_Mutation_p.P357L|TCTN3_uc010qoi.1_Missense_Mutation_p.P365L NM_015631 NP_056446 Q6NUS6 TECT3_HUMAN tectonic 3 isoform a precursor 513 Extracellular (Potential). apoptosis integral to membrane 0 Colorectal(252;0.0815) Epithelial(162;1.69e-07)|all cancers(201;5.63e-06) ATGAGCTTGCGGGTTGGACAG 0.458 NA 35 148 0 0 0 0 LCOR 84458 broad.mit.edu 37 10 98714903 98714903 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:98714903G>A uc001kms.1 + 8 1047 c.526G>A c.(526-528)GGG>AGG p.G176R LCOR_uc001kmr.2_Missense_Mutation_p.G176R|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Missense_Mutation_p.G176R|LCOR_uc001kmu.1_Missense_Mutation_p.G176R NM_032440 NP_115816 Q96JN0 LCOR_HUMAN ligand dependent nuclear receptor corepressor 176 nucleus DNA binding ovary(3) 3 Colorectal(252;0.162) Epithelial(162;4.43e-09)|all cancers(201;2.96e-07) TGCCAGCCTTGGGCCATCTGG 0.463 NA 24 33 0 0 0 0 PDCD11 22984 broad.mit.edu 37 10 105162964 105162964 + Silent SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:105162964C>A uc001kwy.1 + 4 411 c.324C>A c.(322-324)GGC>GGA p.G108G NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 108 S1 motif 1. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) GCCTCCAGGGCTTTGTGCAAG 0.473 NA 76 135 3.55e-40 6.26e-40 1 0 C10orf81 79949 broad.mit.edu 37 10 115526201 115526201 + Missense_Mutation SNP A A C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:115526201A>C uc001lat.1 + 2 604 c.42A>C c.(40-42)GAA>GAC p.E14D C10orf81_uc001lar.1_Missense_Mutation_p.E20D|C10orf81_uc009xyc.1_5'UTR|C10orf81_uc001las.1_Intron NM_024889 NP_079165 Q5SXH7 CJ081_HUMAN hypothetical protein LOC79949 14 PH. central_nervous_system(1) 1 Colorectal(252;0.175) Epithelial(162;0.0181)|all cancers(201;0.0204) ATGAAAATGAAGTCTGCAAAC 0.353 NA 8 57 0 0 0 0 CPXM2 119587 broad.mit.edu 37 10 125530532 125530532 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:125530532C>T uc001lhk.1 - 8 1327 c.1002G>A c.(1000-1002)ATG>ATA p.M334I CPXM2_uc001lhj.2_RNA NM_198148 NP_937791 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 334 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TATTGGGACACATTTCATTCA 0.433 NA 36 257 0 0 0 0 NKX6-2 84504 broad.mit.edu 37 10 134598892 134598892 + Silent SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:134598892G>T uc001llr.2 - 2 556 c.471C>A c.(469-471)GGC>GGA p.G157G NM_177400 NP_796374 Q9C056 NKX62_HUMAN NK6 transcription factor related, locus 2 157 Homeobox. nucleus sequence-specific DNA binding transcription factor activity 0 all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05) AGATCTGCTGGCCCGAGAAGG 0.657 NA 7 8 8.13e-05 0.000110462 1 0 KNDC1 85442 broad.mit.edu 37 10 135015044 135015044 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:135015044C>G uc001llz.1 + 17 3030 c.3029C>G c.(3028-3030)GCC>GGC p.A1010G KNDC1_uc001lma.1_Missense_Mutation_p.A945G|KNDC1_uc001lmb.1_Missense_Mutation_p.A422G NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 1010 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) AGCAGCAGGGCCCCCTGCTCA 0.627 NA 12 60 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1264265 1264265 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:1264265C>T uc009ycr.1 + 47 8360 c.8234C>T c.(8233-8235)CCA>CTA p.P2745L MUC5B_uc001ltb.2_Missense_Mutation_p.P2055L NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2052 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. P -> L (in Ref. 4; CAA96577). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACCAAAGTGCCAACTACCACA 0.642 NA 5 13 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1264268 1264268 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:1264268C>G uc009ycr.1 + 47 8363 c.8237C>G c.(8236-8238)ACT>AGT p.T2746S MUC5B_uc001ltb.2_Missense_Mutation_p.T2056S NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2053 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AAAGTGCCAACTACCACAACC 0.637 NA 5 13 0 0 0 0 OR51G2 81282 broad.mit.edu 37 11 4936073 4936073 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:4936073G>T uc001lzr.1 - 1 821 c.821C>A c.(820-822)CCC>CAC p.P274H NM_001005238 NP_001005238 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, 274 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GACCAGGTGGGGTGCCTGCTT 0.507 NA 28 16 1.16e-09 1.73e-09 1 0 MMP26 56547 broad.mit.edu 37 11 5013232 5013232 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:5013232C>A uc001lzv.2 + 5 652 c.634C>A c.(634-636)CAT>AAT p.H212N NM_021801 NP_068573 Q9NRE1 MMP26_HUMAN matrix metalloproteinase 26 preproprotein 212 Zinc; catalytic (By similarity). collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) TGAGATTGGGCATTCTTTGGG 0.413 NA 5 33 0.000602214 0.000805998 1 0 OR51B2 79345 broad.mit.edu 37 11 5345007 5345007 + Missense_Mutation SNP C C A rs140971687 TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:5345007C>A uc001mao.1 - 1 576 c.521G>T c.(520-522)CGT>CTT p.R174L HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 174 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R174R(1) ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCAGAAAGCACGTGTGATAAC 0.388 NA 20 9 4.63e-17 7.55e-17 1 0 OR51B6 390058 broad.mit.edu 37 11 5373354 5373354 + Missense_Mutation SNP T T C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:5373354T>C uc010qzb.1 + 1 617 c.617T>C c.(616-618)TTG>TCG p.L206S HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, 206 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCAATGGTCTTGTTGGACTTT 0.443 NA 12 20 0 0 0 0 DCHS1 8642 broad.mit.edu 37 11 6661270 6661270 + Silent SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:6661270G>T uc001mem.1 - 2 1985 c.1575C>A c.(1573-1575)CCC>CCA p.P525P NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 525 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCCTGAGGTGGGGTCAATGG 0.587 NA 18 14 1.68e-08 2.45e-08 1 0 COPB1 1315 broad.mit.edu 37 11 14496152 14496152 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:14496152C>G uc001mli.2 - 14 1933 c.1626G>C c.(1624-1626)TTG>TTC p.L542F COPB1_uc001mlg.2_Missense_Mutation_p.L542F|COPB1_uc001mlh.2_Missense_Mutation_p.L542F NM_016451 NP_057535 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 542 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity ovary(1)|central_nervous_system(1) 2 GGAATCCTCTCAAGGGAGGTC 0.443 NA 28 133 0 0 0 0 TPH1 7166 broad.mit.edu 37 11 18057644 18057644 + Missense_Mutation SNP T T C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:18057644T>C uc001mnp.2 - 2 189 c.163A>G c.(163-165)AGA>GGA p.R55G TPH1_uc009yhe.2_RNA NM_004179 NP_004170 P17752 TPH1_HUMAN tryptophan hydroxylase 1 55 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity 0 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) GAGTTTCTTCTTTTTGATTTT 0.353 NA 28 32 0 0 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18158887 18158887 + Silent SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:18158887G>A uc001mnu.2 + 3 499 c.138G>A c.(136-138)GCG>GCA p.A46A NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 46 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 CAGGAAACGCGGTTGTGCTCT 0.602 NA 6 131 0 0 0 0 ANO5 203859 broad.mit.edu 37 11 22301227 22301227 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:22301227G>T uc001mqi.2 + 22 2975 c.2658G>T c.(2656-2658)GAG>GAT p.E886D ANO5_uc001mqj.2_Missense_Mutation_p.E885D NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 886 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 AATTAAAAGAGAACTTGGGAA 0.348 NA 17 38 1.57e-10 2.39e-10 1 0 SLC5A12 159963 broad.mit.edu 37 11 26734190 26734190 + Missense_Mutation SNP T T A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:26734190T>A uc001mra.2 - 2 716 c.403A>T c.(403-405)ACG>TCG p.T135S SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Missense_Mutation_p.T135S NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose 135 Helical; (Potential). sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 CCACTTACCGTCTGTACAATG 0.423 NA 136 207 0 0 0 0 RAG1 5896 broad.mit.edu 37 11 36595801 36595801 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:36595801G>T uc001mwu.3 + 2 1071 c.947G>T c.(946-948)TGC>TTC p.C316F RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 316 RING-type. Zinc 2 (By similarity). histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) TGCCGGGTCTGCATTCTCAGA 0.507 NA Familial_Hemophagocytic_Lymphohistiocytosis 34 32 1.71e-34 2.98e-34 1 0 TTC17 55761 broad.mit.edu 37 11 43428727 43428727 + Nonsense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:43428727G>T uc001mxi.2 + 14 1815 c.1801G>T c.(1801-1803)GAA>TAA p.E601* TTC17_uc001mxh.2_Nonsense_Mutation_p.E601*|TTC17_uc010rfj.1_Nonsense_Mutation_p.E544*|TTC17_uc001mxj.2_Nonsense_Mutation_p.E371* NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 601 binding ovary(5) 5 TATCCCAGAAGAAGAAATTGG 0.284 NA 31 37 1.37e-20 2.31e-20 1 0 OR4C16 219428 broad.mit.edu 37 11 55340173 55340173 + Silent SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:55340173C>A uc010rih.1 + 1 570 c.570C>A c.(568-570)ACC>ACA p.T190T NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, 190 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_epithelial(135;0.0748) GTTCAGAAACCTATGTGGTTA 0.433 NA 33 43 6.01e-18 9.87e-18 1 0 CLP1 10978 broad.mit.edu 37 11 57428441 57428441 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:57428441C>T uc001nkw.2 + 3 950 c.811C>T c.(811-813)CCC>TCC p.P271S CLP1_uc010rjw.1_Missense_Mutation_p.P207S|CLP1_uc009yml.2_Missense_Mutation_p.P271S NM_006831 NP_006822 Q92989 CLP1_HUMAN ATP/GTP-binding protein isoform 1 271 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity ovary(1) 1 ACGGGACCTCCCCCACTTTGT 0.542 NA 51 92 0 0 0 0 OR5A2 219981 broad.mit.edu 37 11 59189605 59189605 + Silent SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:59189605C>A uc010rkt.1 - 1 822 c.822G>T c.(820-822)GTG>GTT p.V274V NM_001001954 NP_001001954 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, 274 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATATGGACACCACCTTGTCCC 0.468 NA 27 14 5.62e-17 9.13e-17 1 0 MS4A6A 64231 broad.mit.edu 37 11 59949134 59949134 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:59949134G>T uc001nor.2 - 2 305 c.67C>A c.(67-69)CAA>AAA p.Q23K MS4A6A_uc001noq.2_Missense_Mutation_p.Q23K|MS4A6A_uc001nos.3_Missense_Mutation_p.Q51K|MS4A6A_uc009ymv.2_Missense_Mutation_p.Q23K|MS4A6A_uc001not.2_Missense_Mutation_p.Q23K|MS4A6A_uc010rla.1_Missense_Mutation_p.Q51K|MS4A6A_uc010rlb.1_Missense_Mutation_p.Q23K NM_152852 NP_690591 Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 23 Cytoplasmic (Potential). integral to membrane receptor activity 0 TTCTCTGCTTGGGAGAAGTTG 0.428 NA 47 43 4.01e-20 6.75e-20 1 0 SLC22A25 387601 broad.mit.edu 37 11 62948160 62948160 + Missense_Mutation SNP T T C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:62948160T>C uc001nwr.1 - 6 1042 c.1042A>G c.(1042-1044)AAA>GAA p.K348E SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_RNA|SLC22A25_uc001nws.1_RNA|SLC22A25_uc001nwt.1_Missense_Mutation_p.K348E NM_199352 NP_955384 Q6T423 S22AP_HUMAN putative UST1-like organic anion transporter 348 Cytoplasmic (Potential). transmembrane transport integral to membrane ovary(3)|skin(1) 4 CAGATTCTTTTACATATGTTG 0.373 NA 29 16 0 0 0 0 PC 5091 broad.mit.edu 37 11 66619265 66619265 + Missense_Mutation SNP A A T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:66619265A>T uc001ojn.1 - 14 2027 c.1978T>A c.(1978-1980)TTC>ATC p.F660I PC_uc001ojo.1_Missense_Mutation_p.F660I|PC_uc001ojp.1_Missense_Mutation_p.F660I|PC_uc001ojm.1_5'Flank NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 660 Carboxyltransferase. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) GCTCACTTGAAGACCACGTTG 0.627 NA 17 25 0 0 0 0 RSF1 51773 broad.mit.edu 37 11 77413134 77413134 + Silent SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:77413134G>A uc001oyn.2 - 6 1260 c.1140C>T c.(1138-1140)GCC>GCT p.A380A RSF1_uc001oym.2_Silent_p.A128A NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 380 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) GTGGTATCTTGGCCTGCTGGT 0.358 NA 55 72 0 0 0 0 C11orf52 91894 broad.mit.edu 37 11 111796859 111796859 + Missense_Mutation SNP A A G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:111796859A>G uc001pmh.2 + 5 791 c.308A>G c.(307-309)TAT>TGT p.Y103C C11orf52_uc001pmi.2_Missense_Mutation_p.Y103C NM_080659 NP_542390 Q96A22 CK052_HUMAN hypothetical protein LOC91894 103 ovary(1) 1 all_cancers(61;8.8e-15)|all_epithelial(67;6.27e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;3.63e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.7e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0512) GCTACAGAGTATGCGACCCTT 0.547 NA 26 14 0 0 0 0 CADM1 23705 broad.mit.edu 37 11 115049407 115049407 + Silent SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:115049407C>G uc001ppi.3 - 9 1296 c.1167G>C c.(1165-1167)CTG>CTC p.L389L CADM1_uc001ppf.3_Silent_p.L361L|CADM1_uc001ppk.3_Silent_p.L361L|CADM1_uc001ppj.3_Silent_p.L390L|CADM1_uc001pph.3_Silent_p.L152L NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 389 Helical; (Potential). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding ovary(2) 2 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) TGAGCAAGCACAGCATGGCGA 0.542 NA 52 45 0 0 0 0 HINFP 25988 broad.mit.edu 37 11 119003446 119003446 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:119003446G>T uc001pvp.2 + 8 1019 c.830G>T c.(829-831)CGT>CTT p.R277L HINFP_uc001pvq.2_Missense_Mutation_p.R277L|HINFP_uc001pvr.2_Missense_Mutation_p.R30L NM_015517 NP_056332 Q9BQA5 HINFP_HUMAN MBD2 (methyl-CpG-binding protein)-interacting 277 C2H2-type 6. DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 ATGCGCTTTCGTCACAGTGAG 0.542 NA 40 29 1.3e-30 2.25e-30 1 0 TECTA 7007 broad.mit.edu 37 11 120989055 120989055 + Silent SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:120989055G>A uc010rzo.1 + 6 831 c.831G>A c.(829-831)TTG>TTA p.L277L NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 277 VWFC. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGGATGACTTGAACTGCACCG 0.408 NA 18 16 0 0 0 0 KIRREL3 84623 broad.mit.edu 37 11 126301325 126301325 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:126301325C>A uc001qea.2 - 14 2046 c.1685G>T c.(1684-1686)CGT>CTT p.R562L KIRREL3_uc001qeb.2_Missense_Mutation_p.R550L|KIRREL3_uc001qec.1_Missense_Mutation_p.R562L|ST3GAL4_uc001qdx.1_Intron NM_032531 NP_115920 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 isoform 1 562 Cytoplasmic (Potential). hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding ovary(3) 3 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) TCTCTGGGAACGGGCACAGCA 0.607 NA 16 12 5.01e-05 6.88e-05 1 0 WNK1 65125 broad.mit.edu 37 12 990928 990928 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:990928C>T uc001qio.3 + 13 3689 c.3182C>T c.(3181-3183)CCG>CTG p.P1061L WNK1_uc001qip.3_Missense_Mutation_p.P814L|WNK1_uc001qir.3_Missense_Mutation_p.P234L NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1061 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GCTACCCAGCCGACCACTTTG 0.473 NA 21 100 0 0 0 0 KCNA6 3742 broad.mit.edu 37 12 4919476 4919476 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:4919476G>A uc001qng.2 + 1 1135 c.269G>A c.(268-270)CGG>CAG p.R90Q NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 90 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 GACCGCAACCGGCCCAGCTTC 0.647 NA HNSCC(72;0.22) 40 50 0 0 0 0 TNFRSF1A 7132 broad.mit.edu 37 12 6438763 6438763 + Silent SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:6438763G>A uc001qnu.2 - 10 1364 c.1083C>T c.(1081-1083)GCC>GCT p.A361A TNFRSF1A_uc001qnt.2_Silent_p.A253A|TNFRSF1A_uc010sey.1_Silent_p.A129A|TNFRSF1A_uc010sez.1_Silent_p.A253A|TNFRSF1A_uc009zek.2_Silent_p.A318A NM_001065 NP_001056 P19438 TNR1A_HUMAN tumor necrosis factor receptor 1 precursor 361 Death.|Cytoplasmic (Potential). apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity lung(2)|skin(1) 3 TCTCCACCACGGCGTACAGCG 0.726 NA 3 14 0 0 0 0 PRB2 653247 broad.mit.edu 37 12 11546608 11546608 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:11546608G>T uc010shk.1 - 3 439 c.404C>A c.(403-405)CCT>CAT p.P135H NM_006248 NP_006239 proline-rich protein BstNI subfamily 2 0 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) CTTTCCTGGAGGAGGTGGAGG 0.607 NA 149 351 4.77e-67 8.5e-67 1 0 ATF7IP 55729 broad.mit.edu 37 12 14578009 14578009 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:14578009C>G uc001rbw.2 + 2 1318 c.1160C>G c.(1159-1161)TCT>TGT p.S387C ATF7IP_uc010shs.1_Missense_Mutation_p.S387C|ATF7IP_uc001rbu.2_Missense_Mutation_p.S387C|ATF7IP_uc001rbv.1_Missense_Mutation_p.S387C|ATF7IP_uc001rbx.2_Missense_Mutation_p.S387C|ATF7IP_uc010sht.1_Missense_Mutation_p.S387C|ATF7IP_uc001rby.3_Missense_Mutation_p.S387C|ATF7IP_uc001rbz.1_Missense_Mutation_p.S387C|ATF7IP_uc001rca.2_Missense_Mutation_p.S387C|ATF7IP_uc001rcb.2_Translation_Start_Site NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 387 Glu-rich. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 GATGCTATATCTAGCAGTATG 0.343 NA 15 91 0 0 0 0 ABCC9 10060 broad.mit.edu 37 12 22063217 22063217 + Silent SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:22063217G>T uc001rfi.1 - 8 1214 c.1194C>A c.(1192-1194)CTC>CTA p.L398L ABCC9_uc001rfh.2_Silent_p.L398L|ABCC9_uc001rfj.1_Silent_p.L398L NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 398 Cytoplasmic (Potential).|ABC transmembrane type-1 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TAGACGTAGAGAGCCTAAGGA 0.353 NA 8 58 2.18e-05 3.02e-05 1 0 DENND5B 160518 broad.mit.edu 37 12 31542309 31542309 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:31542309C>T uc001rki.1 - 20 3776 c.3590G>A c.(3589-3591)AGG>AAG p.R1197K DENND5B_uc001rkh.1_Missense_Mutation_p.R1232K|DENND5B_uc009zjq.1_Intron NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 1197 RUN 2. integral to membrane ovary(1)|central_nervous_system(1) 2 CCCAATGTTCCTGGGTGCAGT 0.373 NA 13 24 0 0 0 0 PRPF40B 25766 broad.mit.edu 37 12 50035774 50035774 + Silent SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:50035774G>A uc001rur.1 + 18 1849 c.1785G>A c.(1783-1785)CTG>CTA p.L595L FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Silent_p.L617L|PRPF40B_uc001ruq.1_Silent_p.L582L|PRPF40B_uc001rus.1_Silent_p.L538L|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 595 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 CTGCCGCACTGGACGCAGGCA 0.567 NA 22 90 0 0 0 0 PRPF40B 25766 broad.mit.edu 37 12 50036073 50036073 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:50036073G>A uc001rur.1 + 19 1938 c.1874G>A c.(1873-1875)AGG>AAG p.R625K FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Missense_Mutation_p.R647K|PRPF40B_uc001ruq.1_Missense_Mutation_p.R612K|PRPF40B_uc001rus.1_Missense_Mutation_p.R568K|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 625 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 GAGGCACGCAGGATGCGGCGC 0.637 NA 16 64 0 0 0 0 SCN8A 6334 broad.mit.edu 37 12 52078000 52078000 + Missense_Mutation SNP A A G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:52078000A>G uc001ryw.2 + 3 497 c.319A>G c.(319-321)AGT>GGT p.S107G SCN8A_uc010snl.1_5'Flank|SCN8A_uc001ryx.1_5'Flank|SCN8A_uc001ryz.1_5'Flank|SCN8A_uc001ryy.2_5'Flank NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 107 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CTTCAGATTTAGTGCCACGCC 0.358 NA 25 44 0 0 0 0 ATF7 11016 broad.mit.edu 37 12 53925601 53925601 + Missense_Mutation SNP A A G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:53925601A>G uc001sdy.2 - 8 908 c.887T>C c.(886-888)ATG>ACG p.M296T ATF7_uc010sok.1_RNA|ATF7_uc001sdz.2_Missense_Mutation_p.M285T|ATF7_uc010sol.1_Missense_Mutation_p.M264T NM_001130059 NP_001123531 P17544 ATF7_HUMAN activating transcription factor 7 isoform 1 296 Transactivation domain. interspecies interaction between organisms cytoplasm|nuclear periphery|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1) 2 GGCTGTCACCATGGTGCTGGC 0.537 NA 12 22 0 0 0 0 GRIP1 23426 broad.mit.edu 37 12 66814550 66814550 + Silent SNP T T A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:66814550T>A uc001stk.2 - 14 1873 c.1632A>T c.(1630-1632)CCA>CCT p.P544P GRIP1_uc010sta.1_Silent_p.P488P|GRIP1_uc001stj.2_Silent_p.P326P|GRIP1_uc001stl.1_Silent_p.P436P|GRIP1_uc001stm.2_Silent_p.P544P NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 596 PDZ 5. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) GGGGGTCTCCTGGTTTTCTAC 0.368 NA 45 82 0 0 0 0 PTPRR 5801 broad.mit.edu 37 12 71286643 71286643 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:71286643G>T uc001swi.1 - 2 589 c.173C>A c.(172-174)CCA>CAA p.P58Q NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 58 Extracellular (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) GATTTTTTGTGGGGCTATATC 0.408 NA 60 126 7.48e-22 1.27e-21 1 0 DUSP6 1848 broad.mit.edu 37 12 89745563 89745563 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:89745563C>A uc001tay.2 - 1 734 c.254G>T c.(253-255)CGC>CTC p.R85L DUSP6_uc001taz.2_Missense_Mutation_p.R85L NM_001946 NP_001937 Q16828 DUS6_HUMAN dual specificity phosphatase 6 isoform a 85 Rhodanese. dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 CCGGGTGAAGCGGTCCCGGTC 0.687 NA 3 8 0.004672 0.00609646 1 0 ANKS1B 56899 broad.mit.edu 37 12 99223121 99223122 + Missense_Mutation DNP CC CC AA TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:99223121_99223122CC>AA uc001tge.1 - 19 3313_3314 c.2896_2897GG>TT c.(2896-2898)GGT>TTT p.G966F ANKS1B_uc001tgf.1_Intron|ANKS1B_uc001tgk.2_Missense_Mutation_p.G263F|ANKS1B_uc010svd.1_5'UTR|ANKS1B_uc001tgd.1_Intron|ANKS1B_uc009ztq.2_5'UTR|ANKS1B_uc010sve.1_5'UTR|ANKS1B_uc001tgh.3_5'UTR|ANKS1B_uc001tgi.2_Missense_Mutation_p.G192F|ANKS1B_uc009ztr.2_Intron|ANKS1B_uc001tgj.2_Intron|ANKS1B_uc009ztp.2_5'UTR|ANKS1B_uc010svf.1_5'UTR|ANKS1B_uc001tgg.3_Intron|ANKS1B_uc010svg.1_Intron|ANKS1B_uc009zts.1_Missense_Mutation_p.G192F NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN cajalin 2 isoform a 966 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane 0 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) AGTGTGATTACCACTGGGTTCC 0.441 NA 22 39 0 0 0 0 NR1H4 9971 broad.mit.edu 37 12 100904813 100904813 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:100904813C>A uc001tht.1 + 2 395 c.367C>A c.(367-369)CGC>AGC p.R123S NR1H4_uc001thp.1_Missense_Mutation_p.R113S|NR1H4_uc001thq.1_Missense_Mutation_p.R113S|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.R113S|NR1H4_uc010svk.1_Missense_Mutation_p.R113S|NR1H4_uc001ths.1_Missense_Mutation_p.R123S NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 123 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 AAAGAAGCCCCGCATGGGCGC 0.527 NA 22 51 3.62e-10 5.48e-10 1 0 TRPV4 59341 broad.mit.edu 37 12 110236583 110236583 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:110236583C>T uc001tpj.1 - 5 1083 c.988G>A c.(988-990)GCC>ACC p.A330T TRPV4_uc001tpg.1_Missense_Mutation_p.A296T|TRPV4_uc001tph.1_Missense_Mutation_p.A283T|TRPV4_uc001tpi.1_Missense_Mutation_p.A283T|TRPV4_uc001tpk.1_Missense_Mutation_p.A330T|TRPV4_uc001tpl.1_Missense_Mutation_p.A330T NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 330 Cytoplasmic (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 TCAGCAATGGCCACCAGCGCA 0.592 NA 13 29 0 0 0 0 NAA25 80018 broad.mit.edu 37 12 112512522 112512522 + Nonsense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:112512522G>A uc001ttm.2 - 9 843 c.823C>T c.(823-825)CGA>TGA p.R275* NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Nonsense_Mutation_p.R247*|NAA25_uc009zwa.1_Nonsense_Mutation_p.R275* NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 275 cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 TCAATCAGTCGAAAGACAGAA 0.393 NA 25 145 0 0 0 0 TAOK3 51347 broad.mit.edu 37 12 118590137 118590137 + Silent SNP G G A rs143511282 byFrequency TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:118590137G>A uc001twx.2 - 20 2725 c.2430C>T c.(2428-2430)AAC>AAT p.N810N TAOK3_uc001twv.2_Silent_p.N350N|TAOK3_uc001tww.2_Silent_p.N640N|TAOK3_uc001twy.3_Silent_p.N810N NM_016281 NP_057365 Q9H2K8 TAOK3_HUMAN TAO kinase 3 810 Potential. MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCTGGTAGGCGTTGAGCAGCT 0.532 NA 43 58 0 0 0 0 CCDC60 160777 broad.mit.edu 37 12 119978426 119978426 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:119978426G>A uc001txe.2 + 14 2024 c.1559G>A c.(1558-1560)CGA>CAA p.R520Q uc001txf.2_Intron NM_178499 NP_848594 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 520 ovary(2)|upper_aerodigestive_tract(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) CAGTTTGTGCGAGAACACATC 0.512 NA 12 92 0 0 0 0 PXN 5829 broad.mit.edu 37 12 120650198 120650198 + Silent SNP G G C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr12:120650198G>C uc001txt.2 - 12 1826 c.1695C>G c.(1693-1695)CTC>CTG p.L565L uc001txs.1_RNA|PXN_uc001txu.2_Silent_p.L377L|PXN_uc001txv.2_Silent_p.L446L|PXN_uc001txx.2_Silent_p.L398L|PXN_uc001txy.2_Silent_p.L531L|PXN_uc001txz.2_RNA NM_001080855 NP_001074324 P49023 PAXI_HUMAN paxillin isoform 1 565 LIM zinc-binding 4. cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding ovary(1)|breast(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGAGCTGCTTGAGGCAGAAGG 0.587 NA 4 37 0 0 0 0 SACS 26278 broad.mit.edu 37 13 23909308 23909308 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr13:23909308C>A uc001uon.2 - 10 9296 c.8707G>T c.(8707-8709)GTT>TTT p.V2903F SACS_uc001uoo.2_Missense_Mutation_p.V2756F|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 2903 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CGAACACCAACTCCATTATCA 0.418 NA 22 41 0.000295444 0.000397739 1 0 NBEA 26960 broad.mit.edu 37 13 35735894 35735894 + Missense_Mutation SNP A A T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr13:35735894A>T uc001uvb.2 + 24 4075 c.3869A>T c.(3868-3870)CAG>CTG p.Q1290L NBEA_uc010abi.2_5'UTR NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 1290 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) TAGGCTGTGCAGGGTCGGTCT 0.403 NA 6 19 0 0 0 0 OLFM4 10562 broad.mit.edu 37 13 53624258 53624258 + Silent SNP A A T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr13:53624258A>T uc001vhl.2 + 5 885 c.885A>T c.(883-885)ACA>ACT p.T295T OLFM4_uc001vhk.1_Intron NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 295 Olfactomedin-like. cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) CATTGAATACAGATGGGAGAC 0.443 NA 40 65 0 0 0 0 C13orf34 79866 broad.mit.edu 37 13 73320896 73320896 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr13:73320896G>A uc001viv.1 + 10 1248 c.1129G>A c.(1129-1131)GCC>ACC p.A377T C13orf34_uc010thq.1_Missense_Mutation_p.A152T|C13orf34_uc010aen.1_Missense_Mutation_p.A452T|C13orf34_uc010thr.1_Missense_Mutation_p.A307T|C13orf34_uc001viw.1_Missense_Mutation_p.A326T NM_024808 NP_079084 Q6PGQ7 BORA_HUMAN aurora borealis 377 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding 0 Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.000227) CTCATCACCCGCCATGGATGC 0.438 NA 33 68 0 0 0 0 TBC1D4 9882 broad.mit.edu 37 13 75936702 75936702 + Silent SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr13:75936702C>T uc001vjl.1 - 2 887 c.540G>A c.(538-540)GCG>GCA p.A180A TBC1D4_uc010aer.2_Silent_p.A180A|TBC1D4_uc010aes.2_Silent_p.A180A NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 180 PID 1. cytoplasm Rab GTPase activator activity ovary(4)|central_nervous_system(1)|skin(1) 6 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) CTTTCATGGCCGCTTTAGATA 0.413 NA 69 151 0 0 0 0 IPO5 3843 broad.mit.edu 37 13 98642692 98642692 + Silent SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr13:98642692G>A uc001vnf.1 + 6 635 c.570G>A c.(568-570)AGG>AGA p.R190R IPO5_uc001vne.2_Silent_p.R208R|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Silent_p.R130R NM_002271 NP_002262 O00410 IPO5_HUMAN importin 5 190 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding ovary(1)|lung(1)|skin(1) 3 TTTAGATCAGGACGTTATCTG 0.343 NA 21 49 0 0 0 0 RNF113B 140432 broad.mit.edu 37 13 98828638 98828638 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr13:98828638G>A uc001vnk.2 - 1 884 c.853C>T c.(853-855)CGG>TGG p.R285W FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron NM_178861 NP_849192 Q8IZP6 R113B_HUMAN ring finger protein 113B 285 RING-type. nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) GGGGTGGCCCGGAAGTGCTCC 0.557 NA 18 85 0 0 0 0 NALCN 259232 broad.mit.edu 37 13 101762992 101762992 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr13:101762992G>T uc001vox.1 - 20 2531 c.2342C>A c.(2341-2343)TCT>TAT p.S781Y NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 781 Cytoplasmic (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGTTTCAAGAGATTTTCCCCT 0.383 NA 23 64 6.13e-19 1.02e-18 1 0 MYO16 23026 broad.mit.edu 37 13 109379876 109379876 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr13:109379876C>A uc001vqt.1 + 4 512 c.386C>A c.(385-387)CCC>CAC p.P129H MYO16_uc010agk.1_Missense_Mutation_p.P151H NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 129 ANK 3. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) TTCTGGACGCCCATGCACATT 0.423 NA 28 46 4.88e-14 7.71e-14 1 0 MYH6 4624 broad.mit.edu 37 14 23870013 23870013 + Missense_Mutation SNP A A T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr14:23870013A>T uc001wjv.2 - 13 1382 c.1315T>A c.(1315-1317)TGG>AGG p.W439R MYH6_uc010akp.1_Missense_Mutation_p.W439R NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 439 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GTCACCATCCAGTTGAACATC 0.567 NA 34 54 0 0 0 0 NYNRIN 57523 broad.mit.edu 37 14 24877130 24877130 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr14:24877130C>T uc001wpf.3 + 3 572 c.254C>T c.(253-255)CCG>CTG p.P85L NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 85 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 CGCTACCCACCGATCCTGCAC 0.632 NA 22 92 0 0 0 0 NAA30 122830 broad.mit.edu 37 14 57866573 57866573 + Missense_Mutation SNP A A G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr14:57866573A>G uc001xcx.3 + 4 1077 c.923A>G c.(922-924)TAT>TGT p.Y308C NAA30_uc010trk.1_Missense_Mutation_p.Y50C|NAA30_uc010aow.2_Intron NM_001011713 NP_001011713 Q147X3 NAA30_HUMAN N-acetyltransferase 12 308 N-acetyltransferase. cytoplasm peptide alpha-N-acetyltransferase activity skin(1) 1 AAAGCTATATATGCCATGGTT 0.264 NA 59 57 0 0 0 0 SLC38A6 145389 broad.mit.edu 37 14 61519120 61519120 + Silent SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr14:61519120C>G uc001xfg.1 + 16 1460 c.1344C>G c.(1342-1344)CTC>CTG p.L448L SLC38A6_uc001xfh.1_Intron|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Intron NM_153811 NP_722518 Q8IZM9 S38A6_HUMAN solute carrier family 38, member 6 448 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(108;0.0981) GTTTAGCACTCATCATTTTTG 0.254 NA 4 9 0 0 0 0 NRXN3 9369 broad.mit.edu 37 14 79933568 79933568 + Silent SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr14:79933568C>T uc001xun.2 + 13 2639 c.2148C>T c.(2146-2148)GGC>GGT p.G716G NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Silent_p.G84G|NRXN3_uc010asw.2_Silent_p.G84G|NRXN3_uc001xur.3_Silent_p.G84G NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1089 Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TTGCAGCTGGCGCTACGTACA 0.557 NA 8 27 0 0 0 0 NDN 4692 broad.mit.edu 37 15 23931618 23931618 + Silent SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr15:23931618G>A uc001ywk.2 - 1 833 c.747C>T c.(745-747)CGC>CGT p.R249R NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 249 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CGTATGGGACGCGCTGGTACT 0.587 NA Prader-Willi_syndrome 20 21 0 0 0 0 C15orf2 23742 broad.mit.edu 37 15 24921238 24921238 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr15:24921238C>A uc001ywo.2 + 1 698 c.224C>A c.(223-225)CCT>CAT p.P75H NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 75 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TGTCCTCTCCCTCGGGCTGCG 0.711 NA 13 35 4.37e-10 6.59e-10 1 0 C15orf2 23742 broad.mit.edu 37 15 24923722 24923722 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr15:24923722C>A uc001ywo.2 + 1 3182 c.2708C>A c.(2707-2709)GCC>GAC p.A903D NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 903 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) ACACTTGGGGCCACTGATGGG 0.498 NA 75 92 1.16e-35 2.02e-35 1 0 SNURF 8926 broad.mit.edu 37 15 25213119 25213119 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr15:25213119C>A uc001ywu.2 + 3 277 c.151C>A c.(151-153)CCT>ACT p.P51T SNRPN_uc001ywp.1_5'UTR|SNRPN_uc001ywq.1_5'UTR|SNRPN_uc001ywr.1_5'UTR|SNRPN_uc001yws.1_Intron|SNRPN_uc001ywt.1_5'UTR|SNRPN_uc001ywv.1_5'UTR|SNRPN_uc001yww.1_5'UTR|SNRPN_uc001ywx.1_5'UTR|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_RNA|SNRPN_uc001ywy.1_Missense_Mutation_p.P51T NM_022804 NP_073715 Q9Y675 SNURF_HUMAN SNRPN upstream reading frame protein 51 nucleus 0 all_cancers(20;1.4e-21)|Breast(32;0.000625) all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142) GCAGCAAGTACCTGTGGTGGA 0.433 NA 41 70 1.32e-36 2.32e-36 1 0 ATP10A 57194 broad.mit.edu 37 15 25940151 25940151 + Missense_Mutation SNP C C T rs150976669 TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr15:25940151C>T uc010ayu.2 - 14 3009 c.2903G>A c.(2902-2904)CGC>CAC p.R968H NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 968 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GCTGGGTCTGCGGCCAGAGGC 0.602 NA 10 66 0 0 0 0 APBA2 321 broad.mit.edu 37 15 29406125 29406125 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr15:29406125G>T uc001zck.2 + 13 2291 c.2084G>T c.(2083-2085)CGT>CTT p.R695L APBA2_uc010uat.1_Missense_Mutation_p.R683L|APBA2_uc001zcl.2_Missense_Mutation_p.R683L NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 695 PDZ 2. nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GGGGGCGTCCGTGTGGGCCAC 0.627 NA 19 31 2.55e-18 4.2e-18 1 0 NDUFAF1 51103 broad.mit.edu 37 15 41688684 41688684 + Splice_Site SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr15:41688684C>A uc001znx.2 - 2 955 c.573_splice c.e2+1 p.R191_splice NDUFAF1_uc010bcf.2_Splice_Site NM_016013 NP_057097 Q9Y375 CIA30_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha mitochondrial electron transport, NADH to ubiquinone|protein complex assembly mitochondrial respiratory chain complex I unfolded protein binding ovary(1) 1 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114) GCCTCACCTACCCTTGGAATC 0.468 NA 19 34 1.68e-08 2.45e-08 1 0 SPTBN5 51332 broad.mit.edu 37 15 42168381 42168381 + Silent SNP T T A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr15:42168381T>A uc001zos.2 - 21 4281 c.3948A>T c.(3946-3948)ACA>ACT p.T1316T NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1351 Spectrin 10. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GCCGCTTGAGTGTCTGCAGGA 0.637 NA 8 23 0 0 0 0 STRC 161497 broad.mit.edu 37 15 43910166 43910166 + Silent SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr15:43910166C>A uc001zsf.2 - 2 531 c.453G>T c.(451-453)GGG>GGT p.G151G STRC_uc010bdl.2_5'UTR|STRC_uc010udz.1_RNA|STRC_uc001zsg.1_Silent_p.G77G NM_153700 NP_714544 Q7RTU9 STRC_HUMAN stereocilin precursor 151 sensory perception of sound cell surface 0 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TAGGGGGGCCCCCAGGAACTA 0.637 NA 22 76 2.98e-07 4.3e-07 1 0 UNC13C 440279 broad.mit.edu 37 15 54306698 54306698 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr15:54306698C>T uc002ack.2 + 1 1598 c.1598C>T c.(1597-1599)CCT>CTT p.P533L NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 533 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GATGCAACACCTCTCTGGCAC 0.358 NA 20 30 0 0 0 0 TCF12 6938 broad.mit.edu 37 15 57574756 57574756 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr15:57574756G>A uc002aec.2 + 19 2304 c.2020G>A c.(2020-2022)GAA>AAA p.E674K TCF12_uc010ugm.1_Intron|TCF12_uc010ugn.1_Missense_Mutation_p.E694K|TCF12_uc002aea.2_Missense_Mutation_p.E698K|TCF12_uc010bfs.2_Missense_Mutation_p.E95K|TCF12_uc002aeb.2_Missense_Mutation_p.E698K|TCF12_uc002aed.2_Missense_Mutation_p.E674K|TCF12_uc002aee.2_Missense_Mutation_p.E504K|TCF12_uc010bft.2_Missense_Mutation_p.E528K|TCF12_uc010ugo.1_Missense_Mutation_p.E438K|TCF12_uc010ugp.1_Missense_Mutation_p.E331K|TCF12_uc010ugq.1_Missense_Mutation_p.E308K NM_207038 NP_996921 Q99081 HTF4_HUMAN transcription factor 12 isoform b 674 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(2)|lung(1) 8 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) TGGGCTTAGTGAAACTACCAA 0.468 NA T TEC extraskeletal myxoid chondrosarcoma 25 124 0 0 0 0 CILP 8483 broad.mit.edu 37 15 65489842 65489842 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr15:65489842G>A uc002aon.2 - 9 2963 c.2782C>T c.(2782-2784)CCC>TCC p.P928S NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 928 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 TCGTTGAAGGGGACTGTGTTG 0.522 NA 35 64 0 0 0 0 HCN4 10021 broad.mit.edu 37 15 73621967 73621967 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr15:73621967C>T uc002avp.2 - 4 2531 c.1537G>A c.(1537-1539)GCC>ACC p.A513T NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 513 Helical; Name=Segment S6; (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) AGGGCAGTGGCGTGGCCAATG 0.652 NA 12 61 0 0 0 0 C15orf59 388135 broad.mit.edu 37 15 74032915 74032915 + Silent SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr15:74032915C>T uc002avy.2 - 2 570 c.225G>A c.(223-225)ACG>ACA p.T75T NM_001039614 NP_001034703 Q2T9L4 CO059_HUMAN hypothetical protein LOC388135 75 pancreas(1) 1 TCACAGTGGCCGTGGTCCAGT 0.592 NA 88 129 0 0 0 0 SCAMP2 10066 broad.mit.edu 37 15 75142867 75142867 + Missense_Mutation SNP T T C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr15:75142867T>C uc002azb.1 - 6 694 c.620A>G c.(619-621)TAT>TGT p.Y207C SCAMP2_uc002aza.1_Missense_Mutation_p.Y57C|SCAMP2_uc010bkg.1_Intron NM_005697 NP_005688 O15127 SCAM2_HUMAN secretory carrier membrane protein 2 207 Cytoplasmic (Potential).|Interaction with SLC9A7. post-Golgi vesicle-mediated transport|protein transport integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane protein binding ovary(1) 1 AAAGGCCTTATAGATGGGTCG 0.562 NA 4 157 0 0 0 0 HOMER2 9455 broad.mit.edu 37 15 83527813 83527813 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr15:83527813C>G uc002bjg.2 - 5 681 c.495G>C c.(493-495)GAG>GAC p.E165D HOMER2_uc002bjh.2_Missense_Mutation_p.E154D|HOMER2_uc002bjj.2_Missense_Mutation_p.E154D|HOMER2_uc002bji.2_Missense_Mutation_p.E165D NM_199330 NP_955362 Q9NSB8 HOME2_HUMAN homer 2 isoform 2 165 Potential. metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane 0 GCTTGTCATTCTCAGACTTCA 0.507 NA 5 196 0 0 0 0 AGBL1 123624 broad.mit.edu 37 15 86838537 86838537 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr15:86838537C>T uc002blz.1 + 16 2214 c.2134C>T c.(2134-2136)CGG>TGG p.R712W AGBL1_uc002bma.1_Missense_Mutation_p.R443W|AGBL1_uc002bmb.1_Missense_Mutation_p.R406W NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 712 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 GGTCTACTTCCGGCAAGATGT 0.468 NA 11 86 0 0 0 0 CRTC3 64784 broad.mit.edu 37 15 91162992 91162992 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr15:91162992G>A uc002bpp.2 + 9 825 c.719G>A c.(718-720)CGC>CAC p.R240H CRTC3_uc002bpo.2_Missense_Mutation_p.R240H NM_022769 NP_073606 Q6UUV7 CRTC3_HUMAN transducer of regulated CREB protein 3 isoform 240 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) salivary_gland(26)|ovary(1) 27 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) CTGTCAGGACGCCCTCGATCC 0.443 NA T MAML2 salivary gland mucoepidermoid 13 123 0 0 0 0 IGF1R 3480 broad.mit.edu 37 15 99434760 99434760 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr15:99434760G>A uc002bul.2 + 3 897 c.847G>A c.(847-849)GCC>ACC p.A283T IGF1R_uc010urq.1_Missense_Mutation_p.A283T|IGF1R_uc010bon.2_Missense_Mutation_p.A283T NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 283 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) TGACTTCTGCGCCAACATCCT 0.637 NA 11 70 0 0 0 0 ZNF646 9726 broad.mit.edu 37 16 31088376 31088376 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr16:31088376G>A uc002eap.2 + 2 1020 c.731G>A c.(730-732)TGT>TAT p.C244Y ZNF668_uc002eao.2_5'Flank NM_014699 NP_055514 O15015 ZN646_HUMAN zinc finger protein 646 244 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(2) 2 TGTAGTCAGTGTGGCAAGACC 0.582 NA 6 46 0 0 0 0 ITGAM 3684 broad.mit.edu 37 16 31308840 31308840 + Silent SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr16:31308840C>T uc002ebq.2 + 13 1460 c.1362C>T c.(1360-1362)GGC>GGT p.G454G ITGAM_uc002ebr.2_Silent_p.G454G|ITGAM_uc010cam.1_Missense_Mutation_p.R58C|ITGAM_uc010can.2_5'UTR NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 454 FG-GAP 5.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 TTCAGATCGGCGCCTACTTCG 0.582 NA 27 168 0 0 0 0 LONP2 83752 broad.mit.edu 37 16 48295405 48295405 + Missense_Mutation SNP A A T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr16:48295405A>T uc002efi.1 + 5 883 c.794A>T c.(793-795)GAA>GTA p.E265V LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.E221V NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 265 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 GATGAAGATGAAGATAATGAT 0.353 NA 34 91 0 0 0 0 FAM65A 79567 broad.mit.edu 37 16 67574374 67574374 + Silent SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr16:67574374C>T uc010vjp.1 + 9 801 c.705C>T c.(703-705)TTC>TTT p.F235F FAM65A_uc010cei.1_Silent_p.F57F|FAM65A_uc002eth.2_Silent_p.F215F|FAM65A_uc010cej.2_Silent_p.F218F|FAM65A_uc002eti.1_Silent_p.F178F|FAM65A_uc010vjq.1_Silent_p.F229F|FAM65A_uc002etj.1_Silent_p.F214F|FAM65A_uc002etk.2_Silent_p.F214F NM_024519 NP_078795 Q6ZS17 FA65A_HUMAN hypothetical protein LOC79567 219 cytoplasm binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) TGGCTGGCTTCGCCAGGCTGT 0.592 NA 16 60 0 0 0 0 LDHD 197257 broad.mit.edu 37 16 75146544 75146544 + Silent SNP G G C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr16:75146544G>C uc002fdm.2 - 10 1361 c.1314C>G c.(1312-1314)GCC>GCG p.A438A LDHD_uc002fdn.2_Silent_p.A415A NM_153486 NP_705690 Q86WU2 LDHD_HUMAN D-lactate dehydrogenase isoform 1 precursor 438 D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding 0 CCAGTTCCTCGGCGTCATCAG 0.607 NA 13 39 0 0 0 0 ZZEF1 23140 broad.mit.edu 37 17 3966057 3966057 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr17:3966057C>T uc002fxe.2 - 30 4937 c.4873G>A c.(4873-4875)GAT>AAT p.D1625N ZZEF1_uc002fxh.2_5'UTR|ZZEF1_uc002fxi.2_5'UTR|ZZEF1_uc002fxj.1_Missense_Mutation_p.D238N NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 1625 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 TTGGTAAAATCTTTCTGACAG 0.413 NA 4 7 0 0 0 0 TNK1 8711 broad.mit.edu 37 17 7290420 7290420 + Silent SNP A A G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr17:7290420A>G uc002ggi.3 + 9 1519 c.1359A>G c.(1357-1359)CCA>CCG p.P453P TNK1_uc002ggj.3_Silent_p.P448P|TNK1_uc010cmf.2_RNA|TNK1_uc002ggk.3_Silent_p.P50P NM_003985 NP_003976 Q13470 TNK1_HUMAN tyrosine kinase, non-receptor, 1 453 protein autophosphorylation membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity lung(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(122;0.157) CCACCCGTCCAGTCCACAGAG 0.627 NA 8 21 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7576853 7576853 + Missense_Mutation SNP C C A rs11575996 TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr17:7576853C>A uc002gim.2 - 9 1187 c.993G>T c.(991-993)CAG>CAT p.Q331H TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.Q331H|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Missense_Mutation_p.Q199H|TP53_uc010cng.1_Missense_Mutation_p.Q199H|TP53_uc002gii.1_Missense_Mutation_p.Q199H|TP53_uc010cnh.1_Missense_Mutation_p.Q331H|TP53_uc010cni.1_Missense_Mutation_p.Q331H|TP53_uc002gij.2_Missense_Mutation_p.Q331H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 331 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2. Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q331*(14)|p.0?(7)|p.Q331P(3)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(1)|p.Q331R(1)|p.Q331H(1)|p.Q331fs*14(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) GACTTAGTACCTGAAGGGTGA 0.453 111 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) 22 42 3.62e-10 5.48e-10 1 0 TP53 7157 broad.mit.edu 37 17 7577535 7577535 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr17:7577535C>A uc002gim.2 - 7 940 c.746G>T c.(745-747)AGG>ATG p.R249M TP53_uc002gig.1_Missense_Mutation_p.R249M|TP53_uc002gih.2_Missense_Mutation_p.R249M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117M|TP53_uc010cng.1_Missense_Mutation_p.R117M|TP53_uc002gii.1_Missense_Mutation_p.R117M|TP53_uc010cnh.1_Missense_Mutation_p.R249M|TP53_uc010cni.1_Missense_Mutation_p.R249M|TP53_uc002gij.2_Missense_Mutation_p.R249M|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156M|TP53_uc002gio.2_Missense_Mutation_p.R117M NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 249 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*15(1)|p.R249_I251delRPI(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) GAGGATGGGCCTCCGGTTCAT 0.567 111 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) 22 31 1.85e-09 2.75e-09 1 0 TP53 7157 broad.mit.edu 37 17 7577547 7577547 + Missense_Mutation SNP C C T rs121912656 TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr17:7577547C>T uc002gim.2 - 7 928 c.734G>A c.(733-735)GGC>GAC p.G245D TP53_uc002gig.1_Missense_Mutation_p.G245D|TP53_uc002gih.2_Missense_Mutation_p.G245D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113D|TP53_uc010cng.1_Missense_Mutation_p.G113D|TP53_uc002gii.1_Missense_Mutation_p.G113D|TP53_uc010cnh.1_Missense_Mutation_p.G245D|TP53_uc010cni.1_Missense_Mutation_p.G245D|TP53_uc002gij.2_Missense_Mutation_p.G245D|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152D|TP53_uc002gio.2_Missense_Mutation_p.G113D NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245del(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CCGGTTCATGCCGCCCATGCA 0.582 111 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) 14 45 0 0 0 0 DNAH2 146754 broad.mit.edu 37 17 7727960 7727960 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr17:7727960G>A uc002giu.1 + 76 11782 c.11768G>A c.(11767-11769)CGC>CAC p.R3923H DNAH2_uc010cnm.1_Missense_Mutation_p.R861H NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 3923 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCATCCTTCCGCCTCTGGCTC 0.552 NA 10 78 0 0 0 0 GUCY2D 3000 broad.mit.edu 37 17 7918083 7918083 + Splice_Site SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr17:7918083G>T uc002gjt.2 + 13 2650 c.2576_splice c.e13+1 p.P859_splice NM_000180 NP_000171 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 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 skin(1) 1 Prostate(122;0.157) TGCTGCCTCCGTGGGTGCCAG 0.627 NA 9 17 3.1e-07 4.45e-07 1 0 NCOR1 9611 broad.mit.edu 37 17 15942772 15942772 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr17:15942772C>G uc002gpo.2 - 44 7170 c.6930G>C c.(6928-6930)GAG>GAC p.E2310D NCOR1_uc002gpn.2_Missense_Mutation_p.E2207D|NCOR1_uc002gpl.2_Missense_Mutation_p.E325D|NCOR1_uc002gpm.2_Missense_Mutation_p.E830D|NCOR1_uc010vwb.1_Missense_Mutation_p.E894D|NCOR1_uc010coy.2_Missense_Mutation_p.E1218D NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 2310 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GGTCCCCTTCCTCTCTTCGTG 0.468 NA 10 35 0 0 0 0 ZNF624 57547 broad.mit.edu 37 17 16550702 16550702 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr17:16550702C>G uc010cpi.1 - 3 177 c.94G>C c.(94-96)GAA>CAA p.E32Q NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 32 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TGGGTAACTTCAGGGCTCTGA 0.269 NA 37 50 0 0 0 0 MED24 9862 broad.mit.edu 37 17 38189629 38189629 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr17:38189629G>T uc002htt.2 - 7 953 c.640C>A c.(640-642)CAG>AAG p.Q214K MED24_uc010wes.1_Missense_Mutation_p.Q74K|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.Q239K|MED24_uc002htu.2_Missense_Mutation_p.Q201K|MED24_uc010cwn.2_Missense_Mutation_p.Q201K|MED24_uc010weu.1_Missense_Mutation_p.Q124K|MED24_uc010wev.1_Missense_Mutation_p.Q164K|MED24_uc010wew.1_Missense_Mutation_p.Q143K|MED24_uc010wex.1_Intron|MED24_uc010wez.1_Missense_Mutation_p.Q55K|MED24_uc010wfa.1_Missense_Mutation_p.Q183K|MED24_uc010wfb.1_Missense_Mutation_p.Q226K|MED24_uc010wfc.1_Missense_Mutation_p.Q170K NM_014815 NP_055630 O75448 MED24_HUMAN mediator complex subunit 24 isoform 1 214 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Colorectal(19;0.000442) TGCTCGGCCTGACTCCGGAGC 0.592 NA 10 3 9.7e-10 1.45e-09 1 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262084 39262084 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr17:39262084C>G uc010wfp.1 + 1 444 c.444C>G c.(442-444)AAC>AAG p.N148K NM_001146041 NP_001139513 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 148 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].|24. keratin filament 0 gccagcccaactgctgccgcc 0.104 NA 9 13 0 0 0 0 KRT15 3866 broad.mit.edu 37 17 39673185 39673185 + Missense_Mutation SNP C C T rs138271368 TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr17:39673185C>T uc002hwy.2 - 3 804 c.613G>A c.(613-615)GTT>ATT p.V205I KRT15_uc002hwz.2_Missense_Mutation_p.V107I|KRT15_uc002hxa.2_Missense_Mutation_p.V40I|KRT15_uc002hxb.1_Missense_Mutation_p.V40I NM_002275 NP_002266 P19012 K1C15_HUMAN keratin 15 205 Rod.|Coil 1B. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton 0 Breast(137;0.000286) TCAGCCTCAACGCCCTGGCGC 0.612 NA 19 65 0 0 0 0 HSD17B1 3292 broad.mit.edu 37 17 40705593 40705593 + Silent SNP T T C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr17:40705593T>C uc002hzw.2 + 3 1370 c.402T>C c.(400-402)GGT>GGC p.G134G HSD17B1_uc002hzx.2_Silent_p.G134G|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_5'UTR|HSD17B1_uc010cyi.2_Silent_p.G165G NM_000413 NP_000404 P14061 DHB1_HUMAN hydroxysteroid (17-beta) dehydrogenase 1 134 estrogen biosynthetic process cytosol binding|estradiol 17-beta-dehydrogenase activity 0 all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261) BRCA - Breast invasive adenocarcinoma(366;0.129) NADH(DB00157) AGAGGCGCGGTTCGGGACGCG 0.637 NA 21 42 0 0 0 0 MED13 9969 broad.mit.edu 37 17 60040139 60040139 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr17:60040139G>T uc002izo.2 - 21 5115 c.5038C>A c.(5038-5040)CAT>AAT p.H1680N NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1680 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 CTCTTGATATGAGGAGGAAGA 0.368 NA 36 89 1.3e-30 2.25e-30 1 0 SCN4A 6329 broad.mit.edu 37 17 62021165 62021165 + Missense_Mutation SNP A A T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr17:62021165A>T uc002jds.1 - 22 4035 c.3958T>A c.(3958-3960)TAT>AAT p.Y1320N NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1320 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) ATGGCGTTATAGTATTTCTTC 0.502 NA 13 19 0 0 0 0 ERN1 2081 broad.mit.edu 37 17 62135335 62135335 + Missense_Mutation SNP G G C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr17:62135335G>C uc002jdz.2 - 12 1338 c.1225C>G c.(1225-1227)CAG>GAG p.Q409E NM_001433 NP_001424 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signalling 1 409 Lumenal (Potential). activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|lung(2)|stomach(1)|ovary(1)|kidney(1) 9 TCTGAAGTCTGGTCAACCAGG 0.552 NA 5 6 0 0 0 0 NUP85 79902 broad.mit.edu 37 17 73214330 73214330 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr17:73214330G>A uc002jng.1 + 7 786 c.526G>A c.(526-528)GAG>AAG p.E176K NUP85_uc010dgd.1_Missense_Mutation_p.E176K|NUP85_uc010wrv.1_Missense_Mutation_p.E130K NM_024844 NP_079120 Q9BW27 NUP85_HUMAN nucleoporin 85 176 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding ovary(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) CCATGTGTGCGAGGTGGACAG 0.572 NA 7 64 0 0 0 0 CANT1 124583 broad.mit.edu 37 17 76993210 76993211 + Missense_Mutation DNP CA CA AT TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr17:76993210_76993211CA>AT uc002jwn.2 - 4 933_934 c.494_495TG>AT c.(493-495)ATG>AAT p.M165N CANT1_uc002jwk.2_Missense_Mutation_p.M165N|CANT1_uc002jwj.2_Missense_Mutation_p.M165N|CANT1_uc002jwl.2_RNA|CANT1_uc002jwm.1_5'Flank NM_001159772 NP_001153244 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 165 Lumenal (Potential). positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity 0 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) CGGATAGCTCCATGCCTCTCCC 0.599 NA T ETV4 prostate 39 97 0 0 0 0 EPB41L3 23136 broad.mit.edu 37 18 5416002 5416002 + Missense_Mutation SNP G G A rs150101312 TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr18:5416002G>A uc002kmt.1 - 13 1968 c.1882C>T c.(1882-1884)CGC>TGC p.R628C EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 628 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 GACGGTGAGCGGATCGGGAGG 0.537 NA 10 89 0 0 0 0 MC5R 4161 broad.mit.edu 37 18 13826521 13826521 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr18:13826521C>T uc010xaf.1 + 1 757 c.757C>T c.(757-759)CCG>TCG p.P253S NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 253 Helical; Name=6; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 GTGCTGGGCCCCGTTCTTCCT 0.577 NA 50 64 0 0 0 0 CDH2 1000 broad.mit.edu 37 18 25572629 25572629 + Missense_Mutation SNP G G C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr18:25572629G>C uc002kwg.2 - 9 1793 c.1334C>G c.(1333-1335)ACC>AGC p.T445S CDH2_uc010xbn.1_Missense_Mutation_p.T414S NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 445 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 TTTGACCACGGTGACTAACCC 0.522 NA 26 57 0 0 0 0 C18orf10 25941 broad.mit.edu 37 18 34376776 34376776 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr18:34376776G>A uc002kzw.1 - 7 1323 c.895C>T c.(895-897)CGG>TGG p.R299W C18orf10_uc002kzv.1_Intron|C18orf10_uc010xci.1_Missense_Mutation_p.R264W|C18orf10_uc002kzx.1_Missense_Mutation_p.R256W NM_015476 NP_056291 Q68CL5 TPGS2_HUMAN tubulin polyglutamylase complex subunit 2 299 cytoplasm|microtubule skin(1) 1 GCTCACTTCCGGGTGGGGTTT 0.617 NA 11 98 0 0 0 0 SETBP1 26040 broad.mit.edu 37 18 42531907 42531907 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr18:42531907G>T uc010dni.2 + 4 2898 c.2602G>T c.(2602-2604)GAC>TAC p.D868Y NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 868 D -> N (in SGMFS).|D -> A (in SGMFS). nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GATCCCCAGCGACAGCGGCAT 0.552 NA Schinzel-Giedion_syndrome 39 22 7.53e-24 1.29e-23 1 0 ZNF236 7776 broad.mit.edu 37 18 74625839 74625839 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr18:74625839G>A uc002lmi.2 + 18 3238 c.3040G>A c.(3040-3042)GAG>AAG p.E1014K ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 1014 C2H2-type 19. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CAAGTCCCACGAGAAGACACA 0.413 NA 21 26 0 0 0 0 DOT1L 84444 broad.mit.edu 37 19 2216357 2216357 + Silent SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:2216357C>T uc002lvb.3 + 20 2037 c.2001C>T c.(1999-2001)GAC>GAT p.D667D DOT1L_uc002lvc.1_Translation_Start_Site|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Translation_Start_Site NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 667 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCCTGACGACGCCCTGTCCC 0.657 NA 17 28 0 0 0 0 TLE6 79816 broad.mit.edu 37 19 2993528 2993528 + Silent SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:2993528C>T uc002lwu.2 + 14 1516 c.1116C>T c.(1114-1116)CAC>CAT p.H372H TLE6_uc002lwt.2_Silent_p.H495H|TLE6_uc010dtg.2_Silent_p.H495H|TLE6_uc002lwv.2_Silent_p.H276H NM_024760 NP_079036 Q9H808 TLE6_HUMAN transducin-like enhancer of split 6 isoform 2 372 WD 5. regulation of transcription, DNA-dependent nucleus ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCAGCGGCACATGGTGGGGC 0.632 NA 11 32 0 0 0 0 ATCAY 85300 broad.mit.edu 37 19 3907911 3907911 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:3907911C>A uc002lyy.3 + 5 968 c.538C>A c.(538-540)CAC>AAC p.H180N ATCAY_uc010xhz.1_Missense_Mutation_p.H186N|ATCAY_uc010dts.2_5'Flank NM_033064 NP_149053 Q86WG3 ATCAY_HUMAN caytaxin 180 CRAL-TRIO. transport protein binding breast(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) AGTGGTCACCCACGGAGGTGA 0.667 NA 7 16 0.00448238 0.00586905 1 0 LONP1 9361 broad.mit.edu 37 19 5711885 5711885 + Missense_Mutation SNP G G A rs116591583 byFrequency TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:5711885G>A uc002mcx.2 - 4 800 c.767C>T c.(766-768)GCG>GTG p.A256V LONP1_uc002mcy.2_Missense_Mutation_p.A192V|LONP1_uc010duh.2_5'UTR|LONP1_uc010dui.2_Missense_Mutation_p.A256V|LONP1_uc002mcz.2_Missense_Mutation_p.A60V NM_004793 NP_004784 P36776 LONM_HUMAN mitochondrial lon peptidase 1 precursor 256 Lon. cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding 0 CGCCAGCTCCGCCGGGTGCCT 0.667 NA 18 43 0 0 0 0 EMR1 2015 broad.mit.edu 37 19 6913740 6913740 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:6913740C>T uc002mfw.2 + 11 1237 c.1199C>T c.(1198-1200)TCC>TTC p.S400F EMR1_uc010dvc.2_Missense_Mutation_p.S400F|EMR1_uc010dvb.2_Missense_Mutation_p.S348F|EMR1_uc010xji.1_Missense_Mutation_p.S259F|EMR1_uc010xjj.1_Missense_Mutation_p.S223F NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 400 Ser/Thr-rich.|Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) GAGACGTCCTCCCTGGCCACA 0.463 NA 51 74 0 0 0 0 PRAM1 84106 broad.mit.edu 37 19 8555792 8555792 + Silent SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:8555792C>T uc002mkd.2 - 6 1742 c.1722G>A c.(1720-1722)AGG>AGA p.R574R PRAM1_uc002mkc.2_Silent_p.R573R NM_032152 NP_115528 Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 622 SH3. lipid binding|protein binding 0 TCCGGAACTCCCTCTCGGCCT 0.592 NA 10 258 0 0 0 0 MYO1F 4542 broad.mit.edu 37 19 8616943 8616943 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:8616943C>G uc002mkg.2 - 7 724 c.610G>C c.(610-612)GAG>CAG p.E204Q MYO1F_uc002mkh.2_Missense_Mutation_p.E204Q|MYO1F_uc010xkf.1_Missense_Mutation_p.E204Q NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 204 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 AAGTTCCTCTCATTTTCATTT 0.572 NA 26 48 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 8987085 8987085 + Silent SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:8987085G>A uc002mkp.2 - 69 42109 c.41905C>T c.(41905-41907)CTG>TTG p.L13969L MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.L786L|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CGTGCACCCAGGCTGCTCCTC 0.602 NA 3 10 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9047583 9047583 + Missense_Mutation SNP A A G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:9047583A>G uc002mkp.2 - 5 34252 c.34048T>C c.(34048-34050)TGG>CGG p.W11350R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11352 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGAGTAACCCATGAGGCTGTT 0.507 NA 75 174 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9071740 9071740 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:9071740G>T uc002mkp.2 - 3 15910 c.15706C>A c.(15706-15708)CCA>ACA p.P5236T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5238 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCATGGTCTGGGGTGGAAATT 0.473 NA 36 77 9.66e-10 1.45e-09 1 0 ZNF560 147741 broad.mit.edu 37 19 9577625 9577625 + Missense_Mutation SNP A A T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:9577625A>T uc002mlp.1 - 10 2208 c.1998T>A c.(1996-1998)AGT>AGA p.S666R ZNF560_uc010dwr.1_Missense_Mutation_p.S560R NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 666 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 CACAAGACCTACTGTAAGCTT 0.388 NA 50 76 0 0 0 0 ZNF426 79088 broad.mit.edu 37 19 9639320 9639320 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:9639320C>A uc002mlq.2 - 8 1665 c.1401G>T c.(1399-1401)ATG>ATT p.M467I ZNF426_uc010dws.2_Missense_Mutation_p.M429I NM_024106 NP_077011 Q9BUY5 ZN426_HUMAN zinc finger protein 426 467 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGTGGATTCGCATGTGAATTT 0.423 NA 19 56 0.00121646 0.00160932 1 0 DNM2 1785 broad.mit.edu 37 19 10893759 10893759 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:10893759G>T uc002mps.1 + 6 976 c.812G>T c.(811-813)CGC>CTC p.R271L DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.R271L|DNM2_uc002mpv.1_Missense_Mutation_p.R271L|DNM2_uc002mpu.1_Missense_Mutation_p.R271L|DNM2_uc010dxl.1_Missense_Mutation_p.R271L|DNM2_uc002mpw.2_Missense_Mutation_p.R4L NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 271 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) ATGGCCGACCGCATGGGCACG 0.577 NA 19 40 1.45e-14 2.31e-14 1 0 MAN2B1 4125 broad.mit.edu 37 19 12767762 12767762 + Splice_Site SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:12767762C>G uc002mub.2 - 12 1603 c.1527_splice c.e12+1 p.R509_splice MAN2B1_uc010dyv.1_Splice_Site_p.R508_splice NM_000528 NP_000519 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding ovary(4)|central_nervous_system(2) 6 TCCCGGCTCACGCGCGCCGCC 0.572 NA 8 12 0 0 0 0 ASNA1 439 broad.mit.edu 37 19 12848400 12848400 + Silent SNP A A C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:12848400A>C uc002muv.2 + 1 95 c.81A>C c.(79-81)ACA>ACC p.T27T C19orf43_uc002muu.2_5'Flank|ASNA1_uc002muw.2_Silent_p.T27T NM_004317 NP_004308 O43681 ASNA_HUMAN arsA arsenite transporter, ATP-binding, homolog 27 response to arsenic-containing substance endoplasmic reticulum|nucleolus|soluble fraction arsenite-transporting ATPase activity|ATP binding|metal ion binding ovary(2) 2 Adenosine triphosphate(DB00171) TGGAGCCTACACTTAGCAACA 0.627 NA 7 14 0 0 0 0 C19orf44 84167 broad.mit.edu 37 19 16611661 16611661 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:16611661G>A uc002neh.1 + 2 131 c.58G>A c.(58-60)GAT>AAT p.D20N MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.D20N|C19orf44_uc002neg.2_Missense_Mutation_p.D20N|C19orf44_uc010eai.1_RNA NM_032207 NP_115583 Q9H6X5 CS044_HUMAN hypothetical protein LOC84167 20 0 TGACTTCAGTGATGTTTCCTT 0.423 NA 41 83 0 0 0 0 GLT25D1 79709 broad.mit.edu 37 19 17688840 17688840 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:17688840G>A uc002nhc.1 + 9 1220 c.1208G>A c.(1207-1209)CGG>CAG p.R403Q GLT25D1_uc010eax.1_Missense_Mutation_p.R131Q|GLT25D1_uc010eay.1_5'Flank NM_024656 NP_078932 Q8NBJ5 GT251_HUMAN glycosyltransferase 25 domain containing 1 403 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity 0 TACCACGGCCGGCCCCTCACC 0.632 NA 11 47 0 0 0 0 KIAA1683 80726 broad.mit.edu 37 19 18368176 18368176 + Silent SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:18368176G>A uc002nin.2 - 4 3573 c.3357C>T c.(3355-3357)GCC>GCT p.A1119A PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Silent_p.A1306A|KIAA1683_uc010xqe.1_Silent_p.A1073A|KIAA1683_uc010xqf.1_RNA NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 1119 IQ 5. mitochondrion ovary(2) 2 CGGACTGGATGGCTGTGGCCG 0.652 NA 19 40 0 0 0 0 ARMC6 93436 broad.mit.edu 37 19 19166617 19166617 + Nonsense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:19166617C>A uc002nld.2 + 8 1521 c.1173C>A c.(1171-1173)TGC>TGA p.C391* ARMC6_uc002nlc.2_Nonsense_Mutation_p.C366*|ARMC6_uc010xql.1_Nonsense_Mutation_p.C298*|ARMC6_uc002nle.2_Nonsense_Mutation_p.C366*|ARMC6_uc010xqm.1_Nonsense_Mutation_p.C391* NM_033415 NP_219483 Q6NXE6 ARMC6_HUMAN armadillo repeat containing 6 391 ARM 4. protein binding 0 OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391) AGCAGAGCTGCGCGGCCCTGT 0.642 NA 59 122 3.79e-19 6.33e-19 1 0 ZNF676 163223 broad.mit.edu 37 19 22364105 22364105 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:22364105C>G uc002nqs.1 - 3 732 c.414G>C c.(412-414)GAG>GAC p.E138D NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TCAAACCTTTCTCTCCAGTAT 0.323 NA 11 121 0 0 0 0 ZFP14 57677 broad.mit.edu 37 19 36832353 36832353 + Nonsense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:36832353G>T uc002odx.1 - 4 468 c.375C>A c.(373-375)TGC>TGA p.C125* ZFP14_uc010xtd.1_Nonsense_Mutation_p.C126*|ZFP14_uc010eex.1_Nonsense_Mutation_p.C125* NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) TCTTGCTTTTGCATTCCCAAT 0.343 NA 15 72 1.37e-15 2.21e-15 1 0 ZNF260 339324 broad.mit.edu 37 19 37005104 37005104 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:37005104G>A uc002oee.1 - 4 1881 c.1037C>T c.(1036-1038)TCT>TTT p.S346F ZNF260_uc002oed.1_Missense_Mutation_p.S343F|ZNF260_uc010eey.1_Missense_Mutation_p.S343F|ZNF260_uc002oef.1_Missense_Mutation_p.S343F NM_001012756 NP_001012774 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 346 C2H2-type 11. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) CACAGTAAGAGATGAGCTTTG 0.423 NA 12 37 0 0 0 0 CRX 1406 broad.mit.edu 37 19 48342676 48342676 + Nonsense_Mutation SNP A A T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:48342676A>T uc002phq.3 + 4 556 c.352A>T c.(352-354)AAG>TAG p.K118* NM_000554 NP_000545 O43186 CRX_HUMAN cone-rod homeobox protein 118 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) CCGGCCTGCCAAGAGGAAGGC 0.537 NA 35 24 0 0 0 0 GYS1 2997 broad.mit.edu 37 19 49477910 49477910 + Silent SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:49477910G>T uc002plp.2 - 11 1630 c.1389C>A c.(1387-1389)ATC>ATA p.I463I GYS1_uc010xzy.1_Silent_p.I96I|GYS1_uc010emm.2_Silent_p.I399I|GYS1_uc010xzz.1_Silent_p.I383I|GYS1_uc010yaa.1_RNA NM_002103 NP_002094 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) isoform 1 463 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding ovary(2) 2 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) TGAAGAGGCCGATTCGGCGGA 0.612 NA 12 7 7.04e-09 1.04e-08 1 0 ZNF611 81856 broad.mit.edu 37 19 53209368 53209368 + Missense_Mutation SNP G G A rs146528210 TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:53209368G>A uc002pzz.2 - 7 1257 c.940C>T c.(940-942)CGT>TGT p.R314C ZNF611_uc010eqc.2_Missense_Mutation_p.R244C|ZNF611_uc010ydo.1_Missense_Mutation_p.R244C|ZNF611_uc010ydr.1_Missense_Mutation_p.R245C|ZNF611_uc010ydp.1_Missense_Mutation_p.R314C|ZNF611_uc010ydq.1_Missense_Mutation_p.R314C|ZNF611_uc002qaa.3_Missense_Mutation_p.R244C NM_030972 NP_112234 Q8N823 ZN611_HUMAN zinc finger protein 611 isoform a 314 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) CAATTGTAACGTTTTACTCCA 0.398 NA 5 77 0 0 0 0 NLRP12 91662 broad.mit.edu 37 19 54301518 54301518 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:54301518G>A uc002qch.3 - 8 3126 c.2906C>T c.(2905-2907)GCC>GTC p.A969V NLRP12_uc010eqw.2_Intron|NLRP12_uc002qci.3_Intron|NLRP12_uc002qcj.3_Missense_Mutation_p.A970V|NLRP12_uc002qck.3_Intron|NLRP12_uc010eqx.2_Intron NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 969 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GAGTCTGCAGGCGGGATGTTG 0.582 NA 17 16 0 0 0 0 PRKCG 5582 broad.mit.edu 37 19 54401709 54401709 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:54401709C>G uc002qcq.1 + 11 1390 c.1108C>G c.(1108-1110)CGC>GGC p.R370G PRKCG_uc010yef.1_3'UTR|PRKCG_uc010yeg.1_Missense_Mutation_p.R370G|PRKCG_uc010yeh.1_Missense_Mutation_p.R257G NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 370 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) GCTGGCCGAGCGCAGGGGCTC 0.577 NA 16 18 0 0 0 0 LILRB2 10288 broad.mit.edu 37 19 54779807 54779807 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:54779807G>A uc002qfb.2 - 13 1914 c.1648C>T c.(1648-1650)CGG>TGG p.R550W LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_3'UTR|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.R549W|LILRB2_uc010yet.1_Missense_Mutation_p.R434W NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 550 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGTCTCACCCGAGTGTCCATC 0.622 NA 55 59 0 0 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55378058 55378058 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:55378058C>A uc002qhl.3 + 9 1303 c.1240C>A c.(1240-1242)CCT>ACT p.P414T KIR3DL2_uc010esh.2_Missense_Mutation_p.P397T|KIR3DL2_uc002qho.3_Missense_Mutation_p.P414T P43629 KI3L1_HUMAN SubName: Full=KIR3DS1; 414 Cytoplasmic (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) AATCAGTCGCCCTTCTCAGAG 0.522 NA 114 97 9.5e-49 1.69e-48 1 0 ZNF274 10782 broad.mit.edu 37 19 58718244 58718244 + Silent SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:58718244G>A uc002qrq.1 + 5 873 c.414G>A c.(412-414)CTG>CTA p.L138L ZNF274_uc010yhu.1_RNA|ZNF274_uc010yhv.1_RNA|ZNF274_uc002qrr.1_Silent_p.L106L|ZNF274_uc002qrs.1_Silent_p.L33L|ZNF274_uc010eum.1_5'UTR NM_133502 NP_598009 Q96GC6 ZN274_HUMAN zinc finger protein 274 isoform c 138 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) ATGGAAGCCTGAGTGCAGATG 0.577 NA 4 15 0 0 0 0 GREB1 9687 broad.mit.edu 37 2 11750844 11750844 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:11750844G>T uc002rbk.1 + 18 2997 c.2697G>T c.(2695-2697)AGG>AGT p.R899S GREB1_uc002rbo.1_Missense_Mutation_p.R533S|GREB1_uc002rbp.1_5'Flank NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 899 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CGGTGATCAGGACCTTTGTTC 0.642 NA 13 40 1.58e-08 2.32e-08 1 0 ATAD2B 54454 broad.mit.edu 37 2 23980963 23980963 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:23980963G>A uc002rek.3 - 25 3697 c.3403C>T c.(3403-3405)CGG>TGG p.R1135W ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Missense_Mutation_p.R375W|ATAD2B_uc002rej.3_Missense_Mutation_p.R303W NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 1135 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATTTTCTCCGAACCCGAACT 0.323 NA 9 43 0 0 0 0 MFSD2B 388931 broad.mit.edu 37 2 24247090 24247090 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:24247090C>T uc002reo.1 + 13 1453 c.1439C>T c.(1438-1440)TCC>TTC p.S480F NM_001080473 NP_001073942 A6NFX1 MFS2B_HUMAN major facilitator superfamily domain containing 480 transport integral to membrane ovary(2) 2 ATGGTCGGCTCCACTCCAAAG 0.647 NA 3 16 0 0 0 0 THADA 63892 broad.mit.edu 37 2 43801646 43801646 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:43801646C>G uc002rsw.3 - 11 1910 c.1558G>C c.(1558-1560)GAC>CAC p.D520H THADA_uc002rsx.3_Missense_Mutation_p.D520H|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.D230H|THADA_uc002rta.2_Missense_Mutation_p.D230H|THADA_uc002rtb.1_Missense_Mutation_p.D520H|THADA_uc002rtc.3_Missense_Mutation_p.D520H|THADA_uc002rtd.2_Missense_Mutation_p.D520H NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 520 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) TGCCACTGGTCAATCCAAGAA 0.383 NA 11 53 0 0 0 0 LHCGR 3973 broad.mit.edu 37 2 48914940 48914940 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:48914940C>A uc002rwu.3 - 11 2066 c.1996G>T c.(1996-1998)GGC>TGC p.G666C GTF2A1L_uc002rwt.2_Intron NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 666 Cytoplasmic (Potential). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity ovary(3)|lung(2)|breast(2)|skin(1) 8 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) CCAGTGAAGCCATTTTTGCAG 0.428 NA Familial_Male-Limited_Precocious_Puberty 80 66 7.24e-40 1.28e-39 1 0 FSHR 2492 broad.mit.edu 37 2 49189919 49189919 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:49189919C>T uc002rww.2 - 10 2115 c.2041G>A c.(2041-2043)GGT>AGT p.G681S FSHR_uc002rwx.2_Missense_Mutation_p.G619S|FSHR_uc010fbn.2_Missense_Mutation_p.G655S NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 681 Cytoplasmic (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TAAGTGGAACCACTGGTGACT 0.378 NA Gonadal_Dysgenesis_46_XX 6 109 0 0 0 0 NRXN1 9378 broad.mit.edu 37 2 50573944 50573944 + Silent SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:50573944C>A uc010fbp.2 - 1 951 c.144G>T c.(142-144)GCG>GCT p.A48A NRXN1_uc002rxb.3_Intron|NRXN1_uc010fbq.2_Intron|NRXN1_uc002rxe.3_Intron|NRXN1_uc002rxc.1_Intron NM_138735 NP_620072 P58400 NRX1B_HUMAN neurexin 1 isoform beta precursor 48 angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) ATGCCCCCCACGCCACTCCTA 0.507 NA 19 13 5.35e-11 8.2e-11 1 0 USP34 9736 broad.mit.edu 37 2 61566804 61566804 + Missense_Mutation SNP T T C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:61566804T>C uc002sbe.2 - 17 2535 c.2513A>G c.(2512-2514)CAT>CGT p.H838R NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 838 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) TTGATGTTTATGAACTACAGG 0.318 NA 15 34 0 0 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88870420 88870420 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:88870420C>A uc002stc.3 - 14 3159 c.2957G>T c.(2956-2958)GGG>GTG p.G986V NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 986 Cytoplasmic (Potential).|Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 CAGTTTGGTCCCTACTTGTCC 0.473 NA 68 84 2.05e-36 3.6e-36 1 0 SNRNP200 23020 broad.mit.edu 37 2 96944433 96944433 + Missense_Mutation SNP G G C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:96944433G>C uc002svu.2 - 38 5426 c.5340C>G c.(5338-5340)CAC>CAG p.H1780Q SNRNP200_uc002svt.2_Missense_Mutation_p.H390Q|SNRNP200_uc010yuj.1_RNA NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 1780 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 GGTCCGACAAGTGACGATGGG 0.577 NA 27 51 0 0 0 0 GLI2 2736 broad.mit.edu 37 2 121740372 121740372 + Silent SNP T T C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:121740372T>C uc010flp.2 + 10 1629 c.1599T>C c.(1597-1599)TAT>TAC p.Y533Y GLI2_uc002tmq.1_Silent_p.Y205Y|GLI2_uc002tmr.1_Silent_p.Y188Y|GLI2_uc002tmt.3_Silent_p.Y205Y|GLI2_uc002tmu.3_Silent_p.Y188Y|GLI2_uc002tmw.1_Silent_p.Y516Y NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 533 C2H2-type 4. axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) AGAAGCCATATGTGTGTGAGC 0.617 NA 4 39 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141201897 141201897 + Splice_Site SNP A A C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:141201897A>C uc002tvj.1 - 65 11266 c.10294_splice c.e65+1 p.P3432_splice NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAGGTGACTTACGACAGTCTC 0.328 NA TSP Lung(27;0.18) 60 27 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141232793 141232793 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:141232793G>T uc002tvj.1 - 60 10511 c.9539C>A c.(9538-9540)ACA>AAA p.T3180K NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3180 Extracellular (Potential).|LDL-receptor class B 30. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATAATCTATTGTTAGTGCCAT 0.408 NA TSP Lung(27;0.18) 72 29 1.59e-42 2.81e-42 1 0 SCN1A 6323 broad.mit.edu 37 2 166898884 166898884 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:166898884G>T uc010zcz.1 - 12 2079 c.2061C>A c.(2059-2061)CAC>CAA p.H687Q SCN1A_uc002udo.3_Missense_Mutation_p.H567Q|SCN1A_uc010fpk.2_Missense_Mutation_p.H539Q NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 698 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CCATGGAAACGTGGAAAGAAC 0.358 NA 46 22 1.75e-18 2.89e-18 1 0 XIRP2 129446 broad.mit.edu 37 2 168107605 168107605 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:168107605C>T uc002udx.2 + 8 9721 c.9703C>T c.(9703-9705)CCA>TCA p.P3235S XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.P3060S|XIRP2_uc010fpq.2_Missense_Mutation_p.P3013S|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 3060 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TAGGGACTCTCCACCTACAAT 0.438 NA 35 16 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179498188 179498188 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:179498188C>T uc010zfg.1 - 181 35418 c.35194G>A c.(35194-35196)GTG>ATG p.V11732M TTN_uc010zfh.1_Missense_Mutation_p.V5427M|TTN_uc010zfi.1_Missense_Mutation_p.V5360M|TTN_uc010zfj.1_Missense_Mutation_p.V5235M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12659 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) CAGTCACACACATATTCGCCT 0.413 NA 52 22 0 0 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803233 185803233 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:185803233C>T uc002uph.2 + 4 3704 c.3110C>T c.(3109-3111)CCA>CTA p.P1037L NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1037 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TTATTGATCCCACTAGAAAAC 0.413 NA 69 23 0 0 0 0 COL5A2 1290 broad.mit.edu 37 2 189925481 189925481 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:189925481C>A uc002uqk.2 - 31 2335 c.2060G>T c.(2059-2061)GGA>GTA p.G687V COL5A2_uc010frx.2_Missense_Mutation_p.G263V NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 687 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TCCACCTTCTCCAGGAGGCCC 0.338 NA 29 16 2.22e-23 3.78e-23 1 0 COQ10B 80219 broad.mit.edu 37 2 198334873 198334873 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:198334873G>T uc002uuh.1 + 4 581 c.527G>T c.(526-528)AGA>ATA p.R176I COQ10B_uc010fsl.1_Missense_Mutation_p.R148I NM_025147 NP_079423 Q9H8M1 CQ10B_HUMAN coenzyme Q10 homolog B precursor 176 mitochondrial inner membrane 0 Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246) GGCTACCCAAGAACTTGTACC 0.358 NA 8 38 5.49e-09 8.11e-09 1 0 SPAG16 79582 broad.mit.edu 37 2 215275038 215275038 + Nonstop_Mutation SNP G G C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:215275038G>C uc002veq.2 + 16 1987 c.1895G>C c.(1894-1896)TGA>TCA p.*632S SPAG16_uc002ver.2_Nonstop_Mutation_p.*578S|SPAG16_uc010zjk.1_Nonstop_Mutation_p.*538S|VWC2L_uc002vet.2_5'Flank|VWC2L_uc010zjl.1_5'Flank NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 632 cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) ACGTGGTCTTGACCGTCAGCA 0.527 NA 16 68 0 0 0 0 SPHKAP 80309 broad.mit.edu 37 2 228973575 228973575 + Silent SNP T T A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:228973575T>A uc002vpq.2 - 3 266 c.219A>T c.(217-219)GTA>GTT p.V73V SPHKAP_uc002vpp.2_Silent_p.V73V|SPHKAP_uc010zlx.1_Silent_p.V73V NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 73 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ACTTGTCTTCTACAAAACCAA 0.468 NA 69 37 0 0 0 0 COL6A3 1293 broad.mit.edu 37 2 238242092 238242092 + Splice_Site SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:238242092C>T uc002vwl.2 - 42 9613 c.9328_splice c.e42+1 p.D3110_splice COL6A3_uc002vwo.2_Splice_Site_p.D2904_splice|COL6A3_uc010znj.1_Splice_Site_p.D2503_splice|COL6A3_uc002vwj.2_Splice_Site_p.D491_splice NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TCACAACTCACCTGTTTCAGT 0.448 NA 45 16 0 0 0 0 PASK 23178 broad.mit.edu 37 2 242079332 242079332 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:242079332C>T uc002wao.1 - 4 660 c.568G>A c.(568-570)GAC>AAC p.D190N PASK_uc010zol.1_Intron|PASK_uc010zom.1_Missense_Mutation_p.D190N|PASK_uc010fzl.1_Missense_Mutation_p.D190N|PASK_uc010zon.1_Intron|PASK_uc002waq.2_Missense_Mutation_p.D190N NM_015148 NP_055963 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 190 PAS 1. regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(4)|lung(1)|skin(1) 6 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GCGTGGCCGTCGGCCTCCATG 0.607 NA 5 44 0 0 0 0 TPX2 22974 broad.mit.edu 37 20 30366776 30366776 + Missense_Mutation SNP A A G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr20:30366776A>G uc002wwp.1 + 10 1741 c.1043A>G c.(1042-1044)AAG>AGG p.K348R TPX2_uc010gdv.1_Missense_Mutation_p.K348R NM_012112 NP_036244 Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated protein homolog 348 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding large_intestine(1)|ovary(1) 2 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) AGGAGCAAGAAGGATGATATT 0.403 NA 5 31 0 0 0 0 TM9SF4 9777 broad.mit.edu 37 20 30749133 30749133 + Missense_Mutation SNP G G C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr20:30749133G>C uc002wxj.2 + 17 1979 c.1744G>C c.(1744-1746)GTC>CTC p.V582L TM9SF4_uc010zts.1_Missense_Mutation_p.V489L|TM9SF4_uc002wxk.2_Missense_Mutation_p.V565L|TM9SF4_uc010gdz.2_Missense_Mutation_p.V461L NM_014742 NP_055557 Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 582 Helical; (Potential). integral to membrane central_nervous_system(1)|pancreas(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TGCATTCTACGTCCTGGTTTA 0.517 NA 28 45 0 0 0 0 NCOA3 8202 broad.mit.edu 37 20 46281792 46281792 + Silent SNP T T C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr20:46281792T>C uc002xtk.2 + 22 4444 c.4239T>C c.(4237-4239)TCT>TCC p.S1413S NCOA3_uc002xtl.2_Silent_p.S1409S|NCOA3_uc002xtm.2_Silent_p.S1408S|NCOA3_uc002xtn.2_Silent_p.S1412S|NCOA3_uc010zyc.1_Silent_p.S1208S NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 1413 Met-rich. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 TGCCCATGTCTGGCATGCCTA 0.463 NA 44 49 0 0 0 0 SLC9A8 23315 broad.mit.edu 37 20 48491309 48491309 + Silent SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr20:48491309C>A uc002xuv.1 + 11 1236 c.1026C>A c.(1024-1026)GTC>GTA p.V342V SLC9A8_uc010zym.1_Silent_p.V42V|SLC9A8_uc010gic.2_Silent_p.V42V|SLC9A8_uc010gid.2_Intron NM_015266 NP_056081 Q9Y2E8 SL9A8_HUMAN sodium/hydrogen exchanger 8 342 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) TCTCCCCAGTCACCCAGATCC 0.557 NA 34 81 1.3e-28 2.24e-28 1 0 SLC9A8 23315 broad.mit.edu 37 20 48494548 48494548 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr20:48494548C>T uc002xuv.1 + 12 1316 c.1106C>T c.(1105-1107)TCC>TTC p.S369F SLC9A8_uc010zym.1_Missense_Mutation_p.S69F|SLC9A8_uc010gic.2_Missense_Mutation_p.S69F|SLC9A8_uc010gid.2_Intron NM_015266 NP_056081 Q9Y2E8 SL9A8_HUMAN sodium/hydrogen exchanger 8 369 Helical; (Potential). Golgi membrane|integral to membrane sodium:hydrogen antiporter activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) CTTGGCCTGTCCATTTTTAGT 0.294 NA 23 63 0 0 0 0 GMEB2 26205 broad.mit.edu 37 20 62234382 62234382 + Missense_Mutation SNP T T C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr20:62234382T>C uc002yfp.1 - 3 772 c.293A>G c.(292-294)GAC>GGC p.D98G GMEB2_uc002yfo.1_Missense_Mutation_p.D20G|GMEB2_uc002yfq.1_Missense_Mutation_p.D98G NM_012384 NP_036516 Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding 98 SAND. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding 0 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) GGCTCTGCTGTCTCCACAGGT 0.532 NA 23 88 0 0 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28212319 28212319 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr21:28212319C>A uc002ymf.2 - 6 2182 c.1727G>T c.(1726-1728)GGT>GTT p.G576V NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 576 TSP type-1 1. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding lung(3)|large_intestine(2)|central_nervous_system(1) 6 Breast(209;0.000962) Lung(58;0.215) GACTCCTCCACCGCACGTTCT 0.493 NA 20 76 8.01e-06 1.13e-05 1 0 TIAM1 7074 broad.mit.edu 37 21 32624279 32624279 + Missense_Mutation SNP T T C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr21:32624279T>C uc002yow.1 - 6 1662 c.1190A>G c.(1189-1191)AAC>AGC p.N397S TIAM1_uc011adk.1_Missense_Mutation_p.N397S|TIAM1_uc011adl.1_Missense_Mutation_p.N397S|TIAM1_uc002yox.1_Missense_Mutation_p.N5S NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 397 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 GCTCTCGCTGTTGGTGGTGCT 0.687 NA 18 29 0 0 0 0 GART 2618 broad.mit.edu 37 21 34878305 34878305 + Silent SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr21:34878305C>T uc002yrx.2 - 19 2694 c.2559G>A c.(2557-2559)GCG>GCA p.A853A GART_uc002yrz.2_Silent_p.A853A|GART_uc010gmd.2_Silent_p.A515A|GART_uc002yry.2_Silent_p.A853A NM_000819 NP_000810 P22102 PUR2_HUMAN phosphoribosylglycinamide formyltransferase, 853 GART. 'de novo' IMP biosynthetic process|purine base biosynthetic process cytosol ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding ovary(1) 1 Pemetrexed(DB00642) CAGCTCTTTCCGCTTTATCTA 0.443 NA 6 55 0 0 0 0 FBXO7 25793 broad.mit.edu 37 22 32894169 32894169 + Silent SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr22:32894169G>A uc003amq.2 + 9 1504 c.1221G>A c.(1219-1221)CCG>CCA p.P407P FBXO7_uc003amr.2_Silent_p.P293P|FBXO7_uc003ams.2_Silent_p.P251P|FBXO7_uc003amt.2_Silent_p.P328P|FBXO7_uc003amu.2_Silent_p.P293P|FBXO7_uc003amv.2_Silent_p.P106P NM_012179 NP_036311 Q9Y3I1 FBX7_HUMAN F-box only protein 7 isoform 1 407 cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(1) 1 AAGAATCCCCGAAAGGGCGGT 0.458 NA 30 112 0 0 0 0 NPTXR 23467 broad.mit.edu 37 22 39224292 39224292 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr22:39224292C>G uc003awk.2 - 2 1004 c.850G>C c.(850-852)GGG>CGG p.G284R NM_014293 NP_055108 O95502 NPTXR_HUMAN neuronal pentraxin receptor 284 Extracellular (Potential). integral to membrane metal ion binding central_nervous_system(2)|skin(1) 3 Melanoma(58;0.04) CAGGACCCACCGTGCTCCAGC 0.602 NA 15 37 0 0 0 0 KLHDC7B 113730 broad.mit.edu 37 22 50987660 50987660 + Silent SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr22:50987660C>T uc003bmi.2 + 1 1199 c.1065C>T c.(1063-1065)TAC>TAT p.Y355Y NM_138433 NP_612442 Q96G42 KLD7B_HUMAN kelch domain containing 7B 355 Kelch 2. central_nervous_system(1) 1 all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGCACAACTACCTGTTTCTGG 0.647 NA 31 83 0 0 0 0 TGM4 7047 broad.mit.edu 37 3 44951648 44951648 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr3:44951648G>A uc003coc.3 + 11 1467 c.1394G>A c.(1393-1395)AGA>AAA p.R465K NM_003241 NP_003232 P49221 TGM4_HUMAN transglutaminase 4 (prostate) 465 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) AGGGAGCACAGACGACCTGTA 0.478 NA 22 30 0 0 0 0 TGM4 7047 broad.mit.edu 37 3 44952515 44952515 + Missense_Mutation SNP G G C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr3:44952515G>C uc003coc.3 + 12 1745 c.1672G>C c.(1672-1674)GAG>CAG p.E558Q NM_003241 NP_003232 P49221 TGM4_HUMAN transglutaminase 4 (prostate) 558 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) ATTAGATGATGAGCCAGTTAT 0.458 NA 21 45 0 0 0 0 SACM1L 22908 broad.mit.edu 37 3 45776775 45776775 + Silent SNP C C T rs138504596 TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr3:45776775C>T uc003cos.2 + 14 1353 c.1149C>T c.(1147-1149)GGC>GGT p.G383G SACM1L_uc011bag.1_Silent_p.G280G|SACM1L_uc011bah.1_Silent_p.G317G|SACM1L_uc003cot.2_Silent_p.G26G NM_014016 NP_054735 Q9NTJ5 SAC1_HUMAN suppressor of actin 1 383 SAC. Golgi apparatus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) ACCAGGAAGGCGTGTTCCGAA 0.438 NA 15 42 0 0 0 0 DHX30 22907 broad.mit.edu 37 3 47887994 47887994 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr3:47887994G>A uc003cru.2 + 11 1858 c.1432G>A c.(1432-1434)GAG>AAG p.E478K DHX30_uc003crt.2_Missense_Mutation_p.E439K NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 478 Helicase ATP-binding. mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CTATGTGACCGAGGGCCGAGG 0.642 NA 19 45 0 0 0 0 TWF2 11344 broad.mit.edu 37 3 52263103 52263103 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr3:52263103G>A uc003ddd.2 - 9 1148 c.997C>T c.(997-999)CGG>TGG p.R333W TLR9_uc003dda.1_5'Flank|TLR9_uc003ddb.2_Intron|TLR9_uc003ddc.1_Intron|TWF2_uc010hmc.2_3'UTR NM_007284 NP_009215 Q6IBS0 TWF2_HUMAN twinfilin-like protein 333 cytoskeleton|perinuclear region of cytoplasm actin binding|ATP binding stomach(1)|ovary(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TTATGGCCCCGCTTGCCCCCT 0.672 NA 9 43 0 0 0 0 TKT 7086 broad.mit.edu 37 3 53260829 53260829 + Missense_Mutation SNP C C T rs148472107 TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr3:53260829C>T uc003dgo.2 - 13 1749 c.1639G>A c.(1639-1641)GAC>AAC p.D547N TKT_uc003dgp.2_Missense_Mutation_p.D179N|TKT_uc011beo.1_Missense_Mutation_p.D500N|TKT_uc003dgq.2_Missense_Mutation_p.D547N|TKT_uc011beq.1_Missense_Mutation_p.D555N|TKT_uc011ber.1_Missense_Mutation_p.D349N|TKT_uc011bep.1_Missense_Mutation_p.D464N NM_001135055 NP_001128527 P29401 TKT_HUMAN transketolase isoform 1 547 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity ovary(2) 2 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) CGAGCGCTGTCGAGAATGAGT 0.602 NA 7 48 0 0 0 0 ROBO2 6092 broad.mit.edu 37 3 77089985 77089985 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr3:77089985G>T uc003dpy.3 + 1 692 c.49G>T c.(49-51)GTT>TTT p.V17F ROBO2_uc003dpz.2_Missense_Mutation_p.V17F|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.V17F NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 17 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ATTTTTATATGTTCGGGTTGA 0.383 NA 37 32 1.16e-17 1.89e-17 1 0 ZBED2 79413 broad.mit.edu 37 3 111312889 111312889 + Missense_Mutation SNP A A T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr3:111312889A>T uc003dxy.2 - 2 1045 c.160T>A c.(160-162)TTC>ATC p.F54I CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron NM_024508 NP_078784 Q9BTP6 ZBED2_HUMAN zinc finger, BED domain containing 2 54 BED-type. DNA binding|metal ion binding skin(1) 1 GCCTCAGAGAACCGGGTGCCC 0.572 NA 25 44 0 0 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069375 114069375 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr3:114069375G>A uc003ebi.2 - 4 1730 c.1550C>T c.(1549-1551)GCG>GTG p.A517V ZBTB20_uc003ebj.2_Missense_Mutation_p.A444V|ZBTB20_uc010hqp.2_Missense_Mutation_p.A444V|ZBTB20_uc003ebk.2_Missense_Mutation_p.A444V|ZBTB20_uc003ebl.2_Missense_Mutation_p.A444V|ZBTB20_uc003ebm.2_Missense_Mutation_p.A444V|ZBTB20_uc003ebn.2_Missense_Mutation_p.A444V|uc003ebo.1_5'Flank NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 517 A -> V (in Ref. 1; AAG28340). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GCCACTGCCCGCGGGCTGGGT 0.622 NA 12 68 0 0 0 0 CHCHD6 84303 broad.mit.edu 37 3 126633572 126633572 + Nonsense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr3:126633572C>G uc003ejf.1 + 6 583 c.545C>G c.(544-546)TCA>TGA p.S182* CHCHD6_uc010hsj.1_Nonsense_Mutation_p.S183* NM_032343 NP_115719 Q9BRQ6 CHCH6_HUMAN coiled-coil-helix-coiled-coil-helix domain 182 0 GAGGCAGCCTCAAAGATGGAG 0.388 NA 33 12 0 0 0 0 MCM2 4171 broad.mit.edu 37 3 127338055 127338055 + Silent SNP G G A rs144817363 TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr3:127338055G>A uc003ejp.2 + 13 2256 c.2199G>A c.(2197-2199)CCG>CCA p.P733P MCM2_uc011bkm.1_Silent_p.P603P|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.P686P NM_004526 NP_004517 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 733 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(1) 4 GGGTCCACCCGAAGCTCAACC 0.597 NA 14 48 0 0 0 0 BFSP2 8419 broad.mit.edu 37 3 133191346 133191346 + Missense_Mutation SNP G G T rs141155612 TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr3:133191346G>T uc003epn.1 + 6 1319 c.1181G>T c.(1180-1182)CGC>CTC p.R394L NM_003571 NP_003562 Q13515 BFSP2_HUMAN phakinin 394 Rod.|Potential. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens 0 CTGCTGGCCCGCAAGTGCCAG 0.662 NA 23 9 5.35e-11 8.2e-11 1 0 GPR171 29909 broad.mit.edu 37 3 150916254 150916254 + Missense_Mutation SNP T T C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr3:150916254T>C uc003eyq.3 - 3 1160 c.920A>G c.(919-921)AAG>AGG p.K307R MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron NM_013308 NP_037440 O14626 GP171_HUMAN G protein-coupled receptor 171 307 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled 0 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTTCTGAGCCTTGGTCTCTTT 0.398 NA 4 119 0 0 0 0 MME 4311 broad.mit.edu 37 3 154886357 154886357 + Silent SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr3:154886357C>A uc010hvr.1 + 19 2068 c.1857C>A c.(1855-1857)TCC>TCA p.S619S MME_uc003fab.1_Silent_p.S619S|MME_uc003fac.1_Silent_p.S619S|MME_uc003fad.1_Silent_p.S619S|MME_uc003fae.1_Silent_p.S619S NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 619 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) AGGAGCAATCCCAGTGCATGG 0.393 NA 36 74 2.86e-05 3.96e-05 1 0 KPNA4 3840 broad.mit.edu 37 3 160219947 160219947 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr3:160219947C>G uc003fdn.2 - 17 1817 c.1511G>C c.(1510-1512)GGA>GCA p.G504A NM_002268 NP_002259 O00629 IMA4_HUMAN karyopherin alpha 4 504 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding 0 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) ACCAAATGTTCCGCCTTGAAT 0.348 NA 15 205 0 0 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906545 164906545 + Silent SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr3:164906545G>T uc003fej.3 - 2 2518 c.2074C>A c.(2074-2076)CGG>AGG p.R692R SLITRK3_uc003fek.2_Silent_p.R692R NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 692 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 CCTTCCTGCCGCTTGCTTCTG 0.448 NA HNSCC(40;0.11) 27 47 6.13e-19 1.02e-18 1 0 TNIK 23043 broad.mit.edu 37 3 170819397 170819397 + Missense_Mutation SNP A A G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr3:170819397A>G uc003fhh.2 - 22 2777 c.2432T>C c.(2431-2433)CTA>CCA p.L811P TNIK_uc003fhi.2_Missense_Mutation_p.L756P|TNIK_uc003fhj.2_Missense_Mutation_p.L782P|TNIK_uc003fhk.2_Missense_Mutation_p.L803P|TNIK_uc003fhl.2_Missense_Mutation_p.L727P|TNIK_uc003fhm.2_Missense_Mutation_p.L748P|TNIK_uc003fhn.2_Missense_Mutation_p.L774P|TNIK_uc003fho.2_Missense_Mutation_p.L719P|TNIK_uc003fhg.2_5'UTR NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 811 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GAGTTCTCTTAGTTCTTTGGC 0.448 NA 51 181 0 0 0 0 ATP13A5 344905 broad.mit.edu 37 3 192994612 192994612 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr3:192994612G>T uc011bsq.1 - 29 3323 c.3323C>A c.(3322-3324)CCA>CAA p.P1108Q NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 1108 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TGTTATGGTTGGGATCAACTG 0.239 NA 16 44 7.08e-05 9.67e-05 1 0 MUC4 4585 broad.mit.edu 37 3 195489041 195489041 + Missense_Mutation SNP A A T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr3:195489041A>T uc011bto.1 - 15 14505 c.14045T>A c.(14044-14046)GTC>GAC p.V4682D MUC4_uc003fuz.2_Missense_Mutation_p.V408D|MUC4_uc003fva.2_Missense_Mutation_p.V290D|MUC4_uc003fvb.2_Missense_Mutation_p.V326D|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.V326D|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.V290D|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.V374D|MUC4_uc011bti.1_Missense_Mutation_p.V374D|MUC4_uc011btj.1_Missense_Mutation_p.V551D|MUC4_uc011btk.1_Missense_Mutation_p.V290D|MUC4_uc011btl.1_Missense_Mutation_p.V319D|MUC4_uc011btm.1_Missense_Mutation_p.V499D|MUC4_uc011btn.1_Missense_Mutation_p.V290D|MUC4_uc003fvo.2_Missense_Mutation_p.V574D|MUC4_uc003fvp.2_Missense_Mutation_p.V523D NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1567 VWFD. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GATCACCGAGACGGTGGCCCA 0.697 NA 9 16 0 0 0 0 FAM193A 8603 broad.mit.edu 37 4 2661595 2661595 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr4:2661595C>T uc010icl.2 + 8 1037 c.686C>T c.(685-687)CCC>CTC p.P229L FAM193A_uc010ick.2_Missense_Mutation_p.P429L|FAM193A_uc003gfd.2_Missense_Mutation_p.P229L|FAM193A_uc011bvm.1_Missense_Mutation_p.P253L|FAM193A_uc011bvn.1_Missense_Mutation_p.P229L|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.P83L NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 229 ovary(3) 3 ATCATGGACCCCCCCGTCACT 0.522 NA 31 35 0 0 0 0 KLHL5 51088 broad.mit.edu 37 4 39122661 39122661 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr4:39122661C>G uc003gts.2 + 11 2318 c.2243C>G c.(2242-2244)GCT>GGT p.A748G KLHL5_uc003gtp.2_Missense_Mutation_p.A702G|KLHL5_uc003gtq.2_Missense_Mutation_p.A561G|KLHL5_uc003gtt.2_Missense_Mutation_p.A687G NM_015990 NP_057074 Q96PQ7 KLHL5_HUMAN kelch-like 5 isoform 1 748 Kelch 6. cytoplasm|cytoskeleton actin binding ovary(1) 1 AGAGCTGGAGCTTGTGTTGTG 0.363 NA 8 33 0 0 0 0 DCAF4L1 285429 broad.mit.edu 37 4 41984019 41984019 + Silent SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr4:41984019G>T uc003gwk.2 + 1 307 c.210G>T c.(208-210)GCG>GCT p.A70A NM_001029955 NP_001025126 Q3SXM0 DC4L1_HUMAN WD repeat domain 21B 70 skin(1) 1 CCTCTTTGGCGAGCGACCGAT 0.537 NA 21 12 4.35e-09 6.43e-09 1 0 NPFFR2 10886 broad.mit.edu 37 4 73012771 73012771 + Missense_Mutation SNP G G C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr4:73012771G>C uc003hgg.2 + 4 909 c.811G>C c.(811-813)GTC>CTC p.V271L NPFFR2_uc010iig.1_Missense_Mutation_p.V53L|NPFFR2_uc003hgi.2_Missense_Mutation_p.V172L|NPFFR2_uc003hgh.2_Missense_Mutation_p.V169L|NPFFR2_uc003hgj.2_RNA NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 271 Helical; Name=4; (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) GATCATCTGGGTCCTAGCCAT 0.388 NA 58 160 0 0 0 0 WDFY3 23001 broad.mit.edu 37 4 85661382 85661382 + Missense_Mutation SNP A A T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr4:85661382A>T uc003hpd.2 - 39 6830 c.6422T>A c.(6421-6423)ATT>AAT p.I2141N NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 2141 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CAGACAGCTAATGAATTCTTG 0.423 NA 31 67 0 0 0 0 PTPN13 5783 broad.mit.edu 37 4 87610317 87610317 + Missense_Mutation SNP A A G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr4:87610317A>G uc003hpz.2 + 5 1000 c.520A>G c.(520-522)AAA>GAA p.K174E PTPN13_uc003hpy.2_Missense_Mutation_p.K174E|PTPN13_uc003hqa.2_Missense_Mutation_p.K174E|PTPN13_uc003hqb.2_Missense_Mutation_p.K174E NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 174 KIND. cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) ACACTTGGTAAAACTGGTTCT 0.373 NA 52 117 0 0 0 0 ADH6 130 broad.mit.edu 37 4 100131356 100131356 + Nonsense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr4:100131356G>T uc003hup.3 - 5 544 c.450C>A c.(448-450)TAC>TAA p.Y150* uc003hum.1_Intron|ADH6_uc003huo.2_Nonsense_Mutation_p.Y150*|ADH6_uc011cef.1_Intron|ADH6_uc010ile.2_Nonsense_Mutation_p.Y150* NM_000672 NP_000663 P28332 ADH6_HUMAN class V alcohol dehydrogenase isoform 2 150 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding ovary(1)|kidney(1)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) TTATCACTGTGTATTCACAGA 0.433 NA 37 61 8.74e-17 1.42e-16 1 0 NDST4 64579 broad.mit.edu 37 4 115767118 115767118 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr4:115767118G>T uc003ibu.2 - 10 2655 c.1976C>A c.(1975-1977)ACA>AAA p.T659K NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 659 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AAAGTCACTTGTAGTATTGGA 0.388 NA 24 42 1.18e-14 1.88e-14 1 0 PCDH10 57575 broad.mit.edu 37 4 134072572 134072572 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr4:134072572G>A uc003iha.2 + 1 2103 c.1277G>A c.(1276-1278)GGG>GAG p.G426E uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.G426E NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 426 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CGAGAGGCGGGGGACTCCTAC 0.587 NA 95 47 0 0 0 0 POU4F2 5458 broad.mit.edu 37 4 147561489 147561489 + Silent SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr4:147561489C>A uc003ikv.2 + 2 1007 c.759C>A c.(757-759)GCC>GCA p.A253A NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 253 POU-specific. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) ACGTGGACGCCGACCCGCGGG 0.682 NA 13 3 4.37e-10 6.59e-10 1 0 FBXW7 55294 broad.mit.edu 37 4 153247228 153247228 + Missense_Mutation SNP A A T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr4:153247228A>T uc003ims.2 - 10 1723 c.1574T>A c.(1573-1575)GTG>GAG p.V525E FBXW7_uc011cii.1_Missense_Mutation_p.V525E|FBXW7_uc003imt.2_Missense_Mutation_p.V525E|FBXW7_uc011cih.1_Missense_Mutation_p.V349E|FBXW7_uc003imq.2_Missense_Mutation_p.V445E|FBXW7_uc003imr.2_Missense_Mutation_p.V407E NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 525 WD 4. interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGGATCCCACACCTTTACCAT 0.428 NA Mis|N|D|F colorectal|endometrial|T-ALL 39 30 0 0 0 0 RXFP1 59350 broad.mit.edu 37 4 159568073 159568073 + Silent SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr4:159568073C>A uc003ipz.2 + 16 1558 c.1476C>A c.(1474-1476)GCC>GCA p.A492A RXFP1_uc011cja.1_Silent_p.A387A|RXFP1_uc010iqo.2_Silent_p.A444A|RXFP1_uc011cjb.1_Silent_p.A390A|RXFP1_uc010iqk.2_Silent_p.A360A|RXFP1_uc011cjc.1_Silent_p.A411A|RXFP1_uc011cjd.1_Silent_p.A411A|RXFP1_uc010iql.2_Silent_p.A336A|RXFP1_uc011cje.1_Silent_p.A519A|RXFP1_uc010iqm.2_Silent_p.A459A|RXFP1_uc011cjf.1_Silent_p.A361A|RXFP1_uc010iqn.2_Silent_p.A437A NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 492 Helical; Name=3; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) GATCTTTGGCCATTCTGTCCA 0.408 NA 29 21 1.08e-15 1.74e-15 1 0 MARCH1 55016 broad.mit.edu 37 4 164534544 164534544 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr4:164534544G>T uc003iqs.1 - 5 1141 c.164C>A c.(163-165)GCA>GAA p.A55E MARCH1_uc003iqr.1_Missense_Mutation_p.A38E NM_017923 NP_060393 Q8TCQ1 MARH1_HUMAN membrane-associated RING-CH protein I 55 Responsible for low stability (By similarity). antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TGGGCTGCTTGCCTGGAGAAA 0.413 NA 18 19 3.52e-12 5.47e-12 1 0 TRIML2 205860 broad.mit.edu 37 4 189012609 189012609 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr4:189012609C>A uc003izl.2 - 7 1118 c.1082G>T c.(1081-1083)TGT>TTT p.C361F TRIML2_uc003izj.1_Missense_Mutation_p.C189F|TRIML2_uc003izk.1_Missense_Mutation_p.C169F|TRIML2_uc011cle.1_Missense_Mutation_p.C436F NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 361 B30.2/SPRY. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) ATTTGGGATACAGAGGGAAAA 0.463 NA 45 71 1.89e-27 3.25e-27 1 0 SLC12A7 10723 broad.mit.edu 37 5 1094289 1094289 + Missense_Mutation SNP T T C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr5:1094289T>C uc003jbu.2 - 2 265 c.199A>G c.(199-201)AAG>GAG p.K67E NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 67 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GCCATGTTCTTCCCTTCAAAG 0.468 NA 6 98 0 0 0 0 IRX2 153572 broad.mit.edu 37 5 2749623 2749623 + Missense_Mutation SNP G G C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr5:2749623G>C uc003jda.2 - 2 770 c.528C>G c.(526-528)AAC>AAG p.N176K C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.N176K NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 176 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) AGGTCATCTTGTTCTCCTTCT 0.602 NA 45 78 0 0 0 0 KIAA0947 23379 broad.mit.edu 37 5 5457653 5457653 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr5:5457653G>T uc003jdm.3 + 12 1122 c.900G>T c.(898-900)GAG>GAT p.E300D NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 300 ovary(1)|central_nervous_system(1) 2 TTTTTAATGAGAATGGAAATC 0.358 NA 31 52 1.31e-18 2.17e-18 1 0 ADCY2 108 broad.mit.edu 37 5 7826964 7826964 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr5:7826964C>A uc003jdz.1 + 25 3323 c.3256C>A c.(3256-3258)CAG>AAG p.Q1086K ADCY2_uc011cmo.1_Missense_Mutation_p.Q906K|ADCY2_uc010itm.1_Missense_Mutation_p.Q282K NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 1086 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 GTCCCTTTCCCAGAGCAACGT 0.468 NA 44 72 4.01e-20 6.75e-20 1 0 MARCH6 10299 broad.mit.edu 37 5 10405687 10405687 + Silent SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr5:10405687C>T uc003jet.1 + 16 1533 c.1350C>T c.(1348-1350)GTC>GTT p.V450V MARCH6_uc011cmu.1_Silent_p.V402V|MARCH6_uc003jeu.1_Silent_p.V148V|MARCH6_uc011cmv.1_Silent_p.V345V NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 450 Cytoplasmic (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 GACCTGGTGTCCTGTGGTTTC 0.323 NA 38 43 0 0 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41048473 41048473 + Missense_Mutation SNP A A G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr5:41048473A>G uc003jmj.3 - 16 2127 c.1637T>C c.(1636-1638)GTA>GCA p.V546A HEATR7B2_uc003jmi.3_Missense_Mutation_p.V101A NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 546 HEAT 6. binding ovary(6)|central_nervous_system(2) 8 CCATAGGTCTACCAATTTTGG 0.473 NA 34 72 0 0 0 0 ZNF131 7690 broad.mit.edu 37 5 43161390 43161390 + Silent SNP A A T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr5:43161390A>T uc011cpw.1 + 5 447 c.411A>T c.(409-411)ACA>ACT p.T137T ZNF131_uc010ivl.1_Silent_p.T137T|ZNF131_uc003jnj.3_5'UTR|ZNF131_uc003jnk.2_Silent_p.T137T|ZNF131_uc003jnn.3_5'UTR|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron NM_003432 NP_003423 P52739 ZN131_HUMAN zinc finger protein 131 137 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AAAATACCACAGGAAAAAATG 0.318 NA 18 46 0 0 0 0 HCN1 348980 broad.mit.edu 37 5 45262557 45262557 + Silent SNP G G C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr5:45262557G>C uc003jok.2 - 8 2164 c.2139C>G c.(2137-2139)GCC>GCG p.A713A NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 713 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 AAGTTCGAGCGGCCAGAGGGC 0.488 NA 7 17 0 0 0 0 HCN1 348980 broad.mit.edu 37 5 45396705 45396705 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr5:45396705C>A uc003jok.2 - 4 1144 c.1119G>T c.(1117-1119)TGG>TGT p.W373C NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 373 Helical; Name=Segment S6; (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GCATGGTAATCCAGAGGTCAG 0.532 NA 21 64 2.46e-09 3.65e-09 1 0 HCN1 348980 broad.mit.edu 37 5 45695881 45695881 + Silent SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr5:45695881C>A uc003jok.2 - 1 340 c.315G>T c.(313-315)GGG>GGT p.G105G NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 105 Involved in subunit assembly (By similarity).|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 ATTTGTTGACCCCGGGCTGCA 0.577 NA 15 36 0.000422831 0.000568567 1 0 ZNF366 167465 broad.mit.edu 37 5 71756259 71756259 + Silent SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr5:71756259G>A uc003kce.1 - 2 1251 c.1065C>T c.(1063-1065)CAC>CAT p.H355H NM_152625 NP_689838 Q8N895 ZN366_HUMAN zinc finger protein 366 355 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GCTTGGCTTCGTGGGCCTTGA 0.662 NA 5 8 0 0 0 0 LIX1 167410 broad.mit.edu 37 5 96443064 96443064 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr5:96443064G>T uc003kmy.3 - 3 627 c.387C>A c.(385-387)AGC>AGA p.S129R NM_153234 NP_694966 Q8N485 LIX1_HUMAN limb expression 1 129 ovary(1) 1 all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.0733) GGGTACTCACGCTGGTGGAGG 0.463 NA 24 25 5.45e-15 8.73e-15 1 0 PCDHB7 56129 broad.mit.edu 37 5 140553886 140553886 + Silent SNP G G C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr5:140553886G>C uc003lit.2 + 1 1644 c.1470G>C c.(1468-1470)CTG>CTC p.L490L NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 490 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCTACTCCCTGCTGCCGTCCC 0.662 NA 41 37 0 0 0 0 PCDHB9 56127 broad.mit.edu 37 5 140568207 140568207 + Missense_Mutation SNP T T A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr5:140568207T>A uc003liw.1 + 3 1316 c.1316T>A c.(1315-1317)CTG>CAG p.L439Q NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 439 Extracellular (Potential).|Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCATAACCCTGCAGGTCTCC 0.582 NA 64 33 0 0 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751528 140751528 + Nonsense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr5:140751528G>T uc003ljw.1 + 1 1567 c.1567G>T c.(1567-1569)GAG>TAG p.E523* 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|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Nonsense_Mutation_p.E523*|PCDHGA6_uc011dau.1_5'Flank NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 523 Extracellular (Potential).|Cadherin 5. 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) CTTCGACCACGAGCAGCTGCG 0.687 NA 13 19 1.58e-08 2.32e-08 1 0 DOCK2 1794 broad.mit.edu 37 5 169509800 169509800 + Silent SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr5:169509800C>T uc003maf.2 + 52 5511 c.5431C>T c.(5431-5433)CTG>TTG p.L1811L DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.L1303L|DOCK2_uc003mah.2_Silent_p.L367L NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1811 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTCTCAAAAGCTGGCCAGCAA 0.512 NA 19 16 0 0 0 0 GABRP 2568 broad.mit.edu 37 5 170238960 170238960 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr5:170238960G>A uc003mau.2 + 10 1219 c.1021G>A c.(1021-1023)GGG>AGG p.G341R GABRP_uc011dev.1_Missense_Mutation_p.G278E NM_014211 NP_055026 O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 341 Cytoplasmic (Potential). cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TATGAACTAGGGGACAACAAA 0.358 NA 27 19 0 0 0 0 TBC1D9B 23061 broad.mit.edu 37 5 179296770 179296770 + Silent SNP T T A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr5:179296770T>A uc003mlh.2 - 17 2827 c.2790A>T c.(2788-2790)CCA>CCT p.P930P TBC1D9B_uc003mli.2_Silent_p.P930P|TBC1D9B_uc003mlj.2_Silent_p.P930P|TBC1D9B_uc003mlf.2_5'Flank|TBC1D9B_uc003mlg.2_Silent_p.P106P|TBC1D9B_uc011dgv.1_Silent_p.P106P|TBC1D9B_uc011dgw.1_Silent_p.P106P|TBC1D9B_uc003mlk.1_Silent_p.P88P NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 930 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCTCTCACCTGGGGGAAGGT 0.632 NA 6 7 0 0 0 0 MGAT1 4245 broad.mit.edu 37 5 180218667 180218667 + Silent SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr5:180218667C>A uc003mmg.3 - 2 1800 c.1305G>T c.(1303-1305)CTG>CTT p.L435L MGAT1_uc010jlf.2_Silent_p.L435L|MGAT1_uc010jlg.2_Silent_p.L435L|MGAT1_uc003mmh.3_Silent_p.L435L|MGAT1_uc010jlh.2_Silent_p.L435L|MGAT1_uc003mmi.3_Silent_p.L435L NM_002406 NP_002397 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein 435 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(1) 1 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTCCCACGTCAGTGGGGGCG 0.622 NA 19 20 5.35e-11 8.2e-11 1 0 BTNL3 10917 broad.mit.edu 37 5 180429673 180429673 + Silent SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr5:180429673G>A uc003mmr.2 + 4 803 c.675G>A c.(673-675)GAG>GAA p.E225E BTNL3_uc010jlp.2_5'UTR NM_197975 NP_932079 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 precursor 225 Extracellular (Potential). lipid metabolic process integral to membrane 0 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) GTTTTTCAGAGACGTTTTTCC 0.458 NA 28 17 0 0 0 0 GCNT2 2651 broad.mit.edu 37 6 10529180 10529180 + Silent SNP G G A rs142352495 by1000genomes TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:10529180G>A uc010joo.2 + 3 587 c.36G>A c.(34-36)GCG>GCA p.A12A GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Silent_p.A11A|GCNT2_uc010jon.2_Silent_p.A11A NM_145649 NP_663624 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, 12 Helical; Signal-anchor for type II membrane protein; (Potential). Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2) 2 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) TTTTTAGCGCGTCTCTTATCT 0.388 NA 19 81 0 0 0 0 KIAA0319 9856 broad.mit.edu 37 6 24581232 24581232 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:24581232C>T uc011djo.1 - 7 1438 c.1201G>A c.(1201-1203)GGA>AGA p.G401R KIAA0319_uc011djp.1_Missense_Mutation_p.G356R|KIAA0319_uc003neh.1_Missense_Mutation_p.G401R|KIAA0319_uc011djq.1_Missense_Mutation_p.G392R|KIAA0319_uc011djr.1_Missense_Mutation_p.G401R|KIAA0319_uc010jpt.1_5'UTR NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 401 PKD 1.|Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 ACATAAAGTCCGACGGACAAC 0.423 NA OREG0017229 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 105 0 0 0 0 ABCF1 23 broad.mit.edu 37 6 30557701 30557701 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:30557701G>T uc003nql.2 + 22 2278 c.2183G>T c.(2182-2184)CGC>CTC p.R728L ABCF1_uc003nqm.2_Missense_Mutation_p.R690L|ABCF1_uc010jsb.2_Missense_Mutation_p.R121L NM_001025091 NP_001020262 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F, member 1 728 ABC transporter 2. inflammatory response|translational initiation nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding ovary(2) 2 TGCCTGGGCCGCTTCGGCCTG 0.612 NA 54 124 3.3e-22 5.61e-22 1 0 MDC1 9656 broad.mit.edu 37 6 30672319 30672319 + Silent SNP G G C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:30672319G>C uc003nrg.3 - 10 5081 c.4641C>G c.(4639-4641)GTC>GTG p.V1547V MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.V1154V NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1547 Interaction with the PRKDC complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 GCTCAGGGGTGACAGGTTGGT 0.567 NA Other_conserved_DNA_damage_response_genes 48 209 0 0 0 0 MDC1 9656 broad.mit.edu 37 6 30673202 30673202 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:30673202G>T uc003nrg.3 - 10 4198 c.3758C>A c.(3757-3759)TCC>TAC p.S1253Y MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.S860Y NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1253 Pro-rich.|Interaction with the PRKDC complex. Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 TGTGGAGGTGGAAGGCTGGAG 0.532 NA Other_conserved_DNA_damage_response_genes 64 262 7.65e-43 1.35e-42 1 0 BAT2 7916 broad.mit.edu 37 6 31597550 31597550 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:31597550C>T uc003nvb.3 + 14 2431 c.2182C>T c.(2182-2184)CCT>TCT p.P728S BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.P728S NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 728 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 GATGATTCCTCCTTATGTGGA 0.637 NA 12 50 0 0 0 0 DAAM2 23500 broad.mit.edu 37 6 39869182 39869182 + Silent SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:39869182G>T uc003oow.2 + 24 3072 c.2916G>T c.(2914-2916)CGG>CGT p.R972R DAAM2_uc003oox.2_Silent_p.R971R NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 972 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) CAGAGGCCCGGCAGGATCTAG 0.607 NA 36 58 1.27e-14 2.02e-14 1 0 SLC29A1 2030 broad.mit.edu 37 6 44197181 44197181 + Silent SNP G G A rs8187630 byFrequency TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:44197181G>A uc003owu.1 + 3 413 c.84G>A c.(82-84)CCG>CCA p.P28P SLC29A1_uc011dvp.1_Silent_p.P47P|SLC29A1_uc003owv.1_Silent_p.P28P|SLC29A1_uc003oww.1_Silent_p.P107P|SLC29A1_uc011dvq.1_Silent_p.P70P|SLC29A1_uc003owx.1_Silent_p.P28P|SLC29A1_uc003owy.1_Silent_p.P28P|SLC29A1_uc003owz.1_Silent_p.P28P NM_004955 NP_004946 Q99808 S29A1_HUMAN equilibrative nucleoside transporter 1 28 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding large_intestine(2)|skin(1) 3 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) CGCTGCTCCCGTGGAATTTTT 0.562 NA 25 100 0 0 0 0 OPN5 221391 broad.mit.edu 37 6 47775957 47775957 + Nonsense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:47775957C>A uc003ozc.2 + 5 829 c.824C>A c.(823-825)TCA>TAA p.S275* OPN5_uc003ozd.2_Nonsense_Mutation_p.S110* NM_181744 NP_859528 Q6U736 OPN5_HUMAN opsin 5 isoform 1 275 Extracellular (Potential). phototransduction|protein-chromophore linkage|visual perception integral to membrane G-protein coupled receptor activity|photoreceptor activity ovary(1) 1 TCTGTGTGGTCAGCTTTTGGA 0.463 NA 71 131 5.99e-33 1.04e-32 1 0 C6orf138 442213 broad.mit.edu 37 6 48036041 48036041 + Silent SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:48036041G>A uc011dwm.1 - 1 385 c.300C>T c.(298-300)CTC>CTT p.L100L C6orf138_uc011dwn.1_Intron|C6orf138_uc003ozf.2_Silent_p.L117L NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 117 integral to membrane hedgehog receptor activity central_nervous_system(1) 1 CGGTTGGGGAGAGGAGGATCA 0.567 NA 35 95 0 0 0 0 PKHD1 5314 broad.mit.edu 37 6 51695776 51695776 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:51695776C>T uc003pah.1 - 52 8461 c.8185G>A c.(8185-8187)GCC>ACC p.A2729T PKHD1_uc010jzn.1_Missense_Mutation_p.A712T|PKHD1_uc003pai.2_Missense_Mutation_p.A2729T NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 2729 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GATTCAGGGGCAGAGGTAGAA 0.393 NA 15 32 0 0 0 0 GSTA5 221357 broad.mit.edu 37 6 52697722 52697722 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:52697722C>A uc003pba.1 - 6 551 c.481G>T c.(481-483)GTG>TTG p.V161L NM_153699 NP_714543 Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 161 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.0912) Glutathione(DB00143) AAAAGTTCCACCAGGTGAATG 0.502 NA 41 90 9.63e-15 1.54e-14 1 0 LGSN 51557 broad.mit.edu 37 6 63990707 63990707 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:63990707G>T uc003peh.2 - 4 783 c.749C>A c.(748-750)ACT>AAT p.T250N LGSN_uc003pei.2_Intron NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 250 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) ATTGGCTCCAGTGTGATACAA 0.388 NA 19 28 2.39e-15 3.84e-15 1 0 PHF3 23469 broad.mit.edu 37 6 64401851 64401851 + Missense_Mutation SNP T T G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:64401851T>G uc003pep.1 + 4 2440 c.2414T>G c.(2413-2415)CTT>CGT p.L805R PHF3_uc010kaf.1_Missense_Mutation_p.L805R|PHF3_uc003pem.2_Missense_Mutation_p.L758R|PHF3_uc010kag.1_Missense_Mutation_p.L717R|PHF3_uc010kah.1_Missense_Mutation_p.L619R|PHF3_uc003pen.2_Missense_Mutation_p.L717R|PHF3_uc011dxs.1_Missense_Mutation_p.L74R NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 805 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TGTGAAAAGCTTGGATTATCA 0.338 NA 12 20 0 0 0 0 DPPA5 340168 broad.mit.edu 37 6 74063748 74063748 + Silent SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:74063748G>A uc003pgs.1 - 2 125 c.120C>T c.(118-120)GAC>GAT p.D40D NM_001025290 NP_001020461 A6NC42 DPPA5_HUMAN developmental pluripotency associated 5 40 KH; atypical. multicellular organismal development cytoplasm RNA binding 0 TTCGAGATCCGTCCGGGCCTG 0.612 NA 11 40 0 0 0 0 SNAP91 9892 broad.mit.edu 37 6 84302213 84302213 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:84302213C>G uc011dze.1 - 20 2208 c.1891G>C c.(1891-1893)GCA>CCA p.A631P SNAP91_uc011dzd.1_Missense_Mutation_p.A134P|SNAP91_uc003pkb.2_Intron|SNAP91_uc003pkc.2_Intron|SNAP91_uc003pkd.2_Intron|SNAP91_uc003pka.2_Missense_Mutation_p.A629P NM_014841 NP_055656 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa homolog 631 clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding ovary(1) 1 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) TCCACCTTTGCTGGCGAGGCA 0.438 NA 6 14 0 0 0 0 CGA 1081 broad.mit.edu 37 6 87796070 87796070 + Missense_Mutation SNP G G C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:87796070G>C uc003plj.1 - 3 272 c.171C>G c.(169-171)TTC>TTG p.F57L NM_000735 NP_000726 P01215 GLHA_HUMAN glycoprotein hormones, alpha polypeptide 57 hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity ovary(1) 1 all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102) BRCA - Breast invasive adenocarcinoma(108;0.0484) ATGCTCTAGAGAAGCAGCAGC 0.473 NA 50 113 0 0 0 0 GPRC6A 222545 broad.mit.edu 37 6 117150007 117150007 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:117150007C>A uc003pxj.1 - 1 192 c.170G>T c.(169-171)CGA>CTA p.R57L GPRC6A_uc003pxk.1_Missense_Mutation_p.R57L|GPRC6A_uc003pxl.1_Missense_Mutation_p.R57L NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 57 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) GATTTGTGGTCGTCTGGGAGA 0.403 NA 11 55 1.62e-10 2.46e-10 1 0 ROS1 6098 broad.mit.edu 37 6 117678071 117678071 + Missense_Mutation SNP A A C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:117678071A>C uc003pxp.1 - 25 4061 c.3862T>G c.(3862-3864)TAT>GAT p.Y1288D ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1288 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TCTGTCCAATACAAGCGACTA 0.378 NA T GOPC|ROS1 glioblastoma|NSCLC 3 45 0 0 0 0 CLVS2 134829 broad.mit.edu 37 6 123369837 123369837 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:123369837C>T uc003pzi.1 + 4 1504 c.635C>T c.(634-636)ACC>ATC p.T212I NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 212 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GCCCTGTACACCGTGATCCGG 0.393 NA 61 127 0 0 0 0 OLIG3 167826 broad.mit.edu 37 6 137814987 137814987 + Silent SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:137814987G>A uc003qhp.1 - 1 545 c.321C>T c.(319-321)CGC>CGT p.R107R NM_175747 NP_786923 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 107 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) GCATGACTTCGCGCAGCCCGT 0.612 NA 17 73 0 0 0 0 SHPRH 257218 broad.mit.edu 37 6 146271502 146271503 + Missense_Mutation DNP CC CC AT TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:146271502_146271503CC>AT uc003qlf.2 - 4 1278_1279 c.879_880GG>AT c.(877-882)GTGGAT>GTATAT p.D294Y SHPRH_uc003qld.2_Missense_Mutation_p.D294Y|SHPRH_uc003qle.2_Missense_Mutation_p.D294Y|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.D183Y|SHPRH_uc003qlk.1_Missense_Mutation_p.D294Y NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 294 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) TGCTGGACATCCACTTGGATGG 0.475 NA 51 96 0 0 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151055105 151055105 + Silent SNP C C T rs141401834 TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:151055105C>T uc003qny.1 + 3 600 c.288C>T c.(286-288)AAC>AAT p.N96N PLEKHG1_uc011eel.1_Silent_p.N136N|PLEKHG1_uc011eem.1_Silent_p.N155N|PLEKHG1_uc003qnz.2_Silent_p.N96N NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 96 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) TGGACTCAAACGGGGCACCCA 0.592 NA 9 51 0 0 0 0 AKAP12 9590 broad.mit.edu 37 6 151671537 151671537 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:151671537C>T uc011eep.1 + 4 2251 c.2011C>T c.(2011-2013)CGC>TGC p.R671C AKAP12_uc003qoe.2_Missense_Mutation_p.R671C|AKAP12_uc003qof.2_Missense_Mutation_p.R573C|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.R566C NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 671 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) AGAACCAAAGCGCAAGGTGGA 0.507 NA 7 57 0 0 0 0 C6orf118 168090 broad.mit.edu 37 6 165715112 165715112 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:165715112C>A uc003qum.3 - 2 735 c.699G>T c.(697-699)AAG>AAT p.K233N C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 233 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) TGAAGTCATTCTTCAGGAGAT 0.607 NA 21 41 1.02e-10 1.55e-10 1 0 FAM120B 84498 broad.mit.edu 37 6 170628053 170628053 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:170628053C>A uc003qxp.2 + 2 1683 c.1575C>A c.(1573-1575)CAC>CAA p.H525Q FAM120B_uc003qxo.1_Missense_Mutation_p.H525Q|FAM120B_uc011ehd.1_Intron NM_032448 NP_115824 Q96EK7 F120B_HUMAN family with sequence similarity 120B 525 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding ovary(1) 1 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) TGTGTACACACGCTGAAATCA 0.378 NA 15 42 1.36e-06 1.94e-06 1 0 GNA12 2768 broad.mit.edu 37 7 2834632 2834632 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr7:2834632G>A uc003smu.2 - 2 619 c.455C>T c.(454-456)CCG>CTG p.P152L GNA12_uc011jwb.1_Missense_Mutation_p.P152L|GNA12_uc003smt.2_Missense_Mutation_p.P93L NM_007353 NP_031379 Q03113 GNA12_HUMAN guanine nucleotide binding protein (G protein) 152 G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) GCTCAGGGCCGGGACGTACAG 0.592 NA 5 107 0 0 0 0 HERPUD2 64224 broad.mit.edu 37 7 35674850 35674850 + Nonsense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr7:35674850C>T uc003tet.2 - 6 1641 c.836G>A c.(835-837)TGG>TAG p.W279* HERPUD2_uc003tes.3_Nonsense_Mutation_p.W279* NM_022373 NP_071768 Q9BSE4 HERP2_HUMAN HERPUD family member 2 279 response to unfolded protein integral to membrane ovary(3) 3 CGTGTACATCCAGTCTAGCCA 0.433 NA 65 39 0 0 0 0 IGFBP1 3484 broad.mit.edu 37 7 45928415 45928415 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr7:45928415C>A uc003tnp.2 + 1 457 c.164C>A c.(163-165)GCC>GAC p.A55D IGFBP1_uc003tno.3_Missense_Mutation_p.A55D|IGFBP1_uc010kyn.2_Missense_Mutation_p.A55D NM_000596 NP_000587 P08833 IBP1_HUMAN insulin-like growth factor binding protein 1 55 IGFBP N-terminal. extracellular space insulin-like growth factor binding lung(1) 1 ACCCGGTCCGCCGGCTGCGGC 0.771 NA 7 12 1.07e-07 1.55e-07 1 0 SEPT14 346288 broad.mit.edu 37 7 55914269 55914269 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr7:55914269G>T uc003tqz.2 - 3 233 c.116C>A c.(115-117)CCC>CAC p.P39H NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN septin 14 39 cell cycle|cell division septin complex GTP binding|protein binding 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CAACTGATTGGGCAAACATTC 0.303 NA 50 102 1.36e-18 2.25e-18 1 0 ZNF479 90827 broad.mit.edu 37 7 57188130 57188130 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr7:57188130C>T uc010kzo.2 - 5 1263 c.992G>A c.(991-993)GGC>GAC p.G331D NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 331 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) AAAGGCTTTGCCACATTCCTC 0.443 NA 8 21 0 0 0 0 CLIP2 7461 broad.mit.edu 37 7 73753270 73753270 + Missense_Mutation SNP A A G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr7:73753270A>G uc003uam.2 + 3 941 c.614A>G c.(613-615)AAC>AGC p.N205S CLIP2_uc003uan.2_Missense_Mutation_p.N205S NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 205 microtubule associated complex skin(3) 3 TCGGGATCCAACCTCTCAGAC 0.677 NA 16 33 0 0 0 0 ZP3 7784 broad.mit.edu 37 7 76058904 76058904 + Missense_Mutation SNP G G A rs144669807 by1000genomes TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr7:76058904G>A uc003ufd.3 + 2 395 c.385G>A c.(385-387)GTG>ATG p.V129M ZP3_uc003ufc.3_Missense_Mutation_p.V78M|ZP3_uc003ufe.2_Missense_Mutation_p.V37M NM_001110354 NP_001103824 P21754 ZP3_HUMAN zona pellucida glycoprotein 3 isoform 1 129 Extracellular (Potential).|ZP. binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding 0 CCTGTCCATCGTGAGGACTAA 0.597 NA 14 58 0 0 0 0 CACNA2D1 781 broad.mit.edu 37 7 81591325 81591325 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr7:81591325C>T uc003uhr.1 - 36 3107 c.2851G>A c.(2851-2853)GAT>AAT p.D951N CACNA2D1_uc011kgy.1_Missense_Mutation_p.D163N NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 963 Extracellular (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) GTGAAGTCATCATCCTCCATC 0.483 NA 56 544 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82764156 82764156 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr7:82764156G>A uc003uhx.2 - 3 2999 c.2710C>T c.(2710-2712)CGT>TGT p.R904C PCLO_uc003uhv.2_Missense_Mutation_p.R904C NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 850 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AGACTGAAACGCCTTGACTGC 0.542 NA 26 241 0 0 0 0 MCM7 4176 broad.mit.edu 37 7 99691888 99691888 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr7:99691888C>T uc003usw.1 - 13 2266 c.1756G>A c.(1756-1758)GTG>ATG p.V586M MCM7_uc003usv.1_Missense_Mutation_p.V410M|MCM7_uc003usx.1_Missense_Mutation_p.V410M|uc003usy.1_5'Flank|MIR25_hsa-mir-25|MI0000082_5'Flank|uc003usz.1_5'Flank|MIR93_hsa-mir-93|MI0000095_5'Flank|uc003uta.1_5'Flank|MIR106B_hsa-mir-106b|MI0000734_5'Flank NM_005916 NP_005907 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 586 Interaction with ATRIP. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) CTCATCTCCACGTATGCTGCT 0.577 NA 11 60 0 0 0 0 AP4M1 9179 broad.mit.edu 37 7 99702922 99702922 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr7:99702922G>A uc003utb.3 + 10 995 c.787G>A c.(787-789)GAA>AAA p.E263K AP4M1_uc011kjg.1_Missense_Mutation_p.E217K|AP4M1_uc010lgl.1_Missense_Mutation_p.E263K|AP4M1_uc003utc.3_Missense_Mutation_p.E270K|AP4M1_uc010lgm.2_Missense_Mutation_p.E135K|AP4M1_uc003utd.2_Missense_Mutation_p.E263K|AP4M1_uc011kjh.1_Missense_Mutation_p.E215K|AP4M1_uc003ute.3_Missense_Mutation_p.E38K|AP4M1_uc003utf.3_Missense_Mutation_p.E135K NM_004722 NP_004713 O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit 263 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|coated pit|Golgi trans cisterna transporter activity 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAATCTGGACGAATTTGAGTC 0.542 NA 22 113 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100682580 100682580 + Missense_Mutation SNP C C T rs146245479 by1000genomes TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr7:100682580C>T uc003uxp.1 + 3 7936 c.7883C>T c.(7882-7884)CCT>CTT p.P2628L MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2628 Extracellular (Potential).|59 X approximate tandem repeats.|42.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ATCTCAACTCCTAGTGAAGTA 0.458 NA 255 106 0 0 0 0 ARMC10 83787 broad.mit.edu 37 7 102738868 102738868 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr7:102738868G>T uc003vaw.1 + 7 1292 c.900G>T c.(898-900)CAG>CAT p.Q300H ARMC10_uc003vay.1_Missense_Mutation_p.Q241H|ARMC10_uc003vax.1_Missense_Mutation_p.Q265H|ARMC10_uc003vbb.1_Missense_Mutation_p.Q206H|ARMC10_uc011kli.1_Missense_Mutation_p.Q241H|ARMC10_uc010lis.1_Missense_Mutation_p.Q182H|ARMC10_uc003vba.1_RNA|ARMC10_uc003vaz.1_Missense_Mutation_p.Q178H NM_031905 NP_114111 Q8N2F6 ARM10_HUMAN SVH protein isoform a 300 regulation of growth endoplasmic reticulum membrane|integral to membrane binding ovary(1) 1 TAGCTGTGCAGCCTACTTTCA 0.403 NA 16 63 1.75e-11 2.7e-11 1 0 FOXP2 93986 broad.mit.edu 37 7 114284743 114284743 + Silent SNP G G C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr7:114284743G>C uc003vhb.2 + 8 1367 c.993G>C c.(991-993)TCG>TCC p.S331S FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.S356S|FOXP2_uc003vha.2_Silent_p.S239S|FOXP2_uc011kmu.1_Silent_p.S348S|FOXP2_uc011kmv.1_Silent_p.S330S|FOXP2_uc010ljz.1_Silent_p.S239S|FOXP2_uc003vgx.2_Silent_p.S331S|FOXP2_uc003vhd.2_Silent_p.S331S|FOXP2_uc003vhc.2_Silent_p.S356S NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 331 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 GCTACAGCTCGTCACATGAGG 0.468 NA 5 37 0 0 0 0 POT1 25913 broad.mit.edu 37 7 124475372 124475372 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr7:124475372G>A uc003vlm.2 - 15 2067 c.1466C>T c.(1465-1467)TCA>TTA p.S489L POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.S358L|POT1_uc003vln.2_RNA NM_015450 NP_056265 Q9NUX5 POTE1_HUMAN protection of telomeres 1 isoform 1 489 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity central_nervous_system(1) 1 AAATGGTGCTGAAAGGTCCAA 0.289 NA 13 71 0 0 0 0 OR2A2 442361 broad.mit.edu 37 7 143807030 143807030 + Missense_Mutation SNP T T A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr7:143807030T>A uc011ktz.1 + 1 355 c.355T>A c.(355-357)TAT>AAT p.Y119N NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, 119 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.0783) GGTGATGTCCTATGATAGGTA 0.463 NA 96 41 0 0 0 0 HTR5A 3361 broad.mit.edu 37 7 154862941 154862941 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr7:154862941G>T uc003wlu.1 + 1 396 c.332G>T c.(331-333)CGG>CTG p.R111L uc011kvt.1_Silent_p.R25R|uc003wlt.2_Silent_p.R25R NM_024012 NP_076917 P47898 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A 111 Extracellular (By similarity). integral to plasma membrane serotonin receptor activity ovary(2)|large_intestine(1) 3 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CAGCTAGGTCGGAGGCTGTGC 0.667 NA 12 30 1.58e-08 2.32e-08 1 0 PIWIL2 55124 broad.mit.edu 37 8 22167481 22167481 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:22167481G>T uc003xbn.2 + 15 1842 c.1694G>T c.(1693-1695)GGA>GTA p.G565V PIWIL2_uc011kzf.1_Missense_Mutation_p.G565V|PIWIL2_uc010ltv.2_Missense_Mutation_p.G565V NM_018068 NP_060538 Q8TC59 PIWL2_HUMAN piwi-like 2 565 DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding skin(1) 1 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) TAGATTGAAGGACGTGTTCTG 0.388 NA 28 23 2.13e-12 3.32e-12 1 0 PURG 29942 broad.mit.edu 37 8 30889770 30889770 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:30889770C>G uc003xin.2 - 1 548 c.529G>C c.(529-531)GAG>CAG p.E177Q WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.E177Q NM_013357 NP_037489 Q9UJV8 PURG_HUMAN purine-rich element binding protein G isoform A 177 By similarity. nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) TTGTCCCTCTCGATATAGTCT 0.532 NA 14 58 0 0 0 0 PURG 29942 broad.mit.edu 37 8 30889786 30889786 + Silent SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:30889786C>G uc003xin.2 - 1 532 c.513G>C c.(511-513)CTG>CTC p.L171L WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Silent_p.L171L NM_013357 NP_037489 Q9UJV8 PURG_HUMAN purine-rich element binding protein G isoform A 171 By similarity. nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) AGTCTGTTTTCAGGACACTGT 0.527 NA 15 74 0 0 0 0 PURG 29942 broad.mit.edu 37 8 30890041 30890041 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:30890041C>G uc003xin.2 - 1 277 c.258G>C c.(256-258)AAG>AAC p.K86N WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.K86N NM_013357 NP_037489 Q9UJV8 PURG_HUMAN purine-rich element binding protein G isoform A 86 By similarity. nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) CTTCGGCTATCTTTAGGAAGC 0.552 NA 7 26 0 0 0 0 IKBKB 3551 broad.mit.edu 37 8 42171930 42171930 + Silent SNP C C T rs150493359 TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:42171930C>T uc003xow.1 + 9 960 c.783C>T c.(781-783)TAC>TAT p.Y261Y IKBKB_uc003xov.2_Silent_p.Y261Y|IKBKB_uc010lxh.1_Silent_p.Y156Y|IKBKB_uc011lco.1_RNA|IKBKB_uc010lxj.1_Silent_p.Y38Y|IKBKB_uc003xox.1_5'UTR|IKBKB_uc011lcp.1_RNA|IKBKB_uc011lcq.1_Silent_p.Y259Y|IKBKB_uc010lxi.1_RNA|IKBKB_uc011lcr.1_Silent_p.Y202Y NM_001556 NP_001547 O14920 IKKB_HUMAN inhibitor of nuclear factor kappa B kinase beta 261 Protein kinase. anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(3)|ovary(2)|lung(1)|skin(1) 7 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) CTTTACCCTACCCCAATAATC 0.358 NA 42 90 0 0 0 0 ST18 9705 broad.mit.edu 37 8 53084518 53084518 + Silent SNP C C T rs149814559 TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:53084518C>T uc003xqz.2 - 5 1059 c.903G>A c.(901-903)GGG>GGA p.G301G ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.G266G|ST18_uc011lds.1_Silent_p.G206G|ST18_uc003xra.2_Silent_p.G301G|ST18_uc003xrb.2_Silent_p.G301G NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 301 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AACTTAAATTCCCCTTGGCCT 0.527 NA 22 40 0 0 0 0 CHD7 55636 broad.mit.edu 37 8 61769309 61769309 + Silent SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:61769309G>A uc003xue.2 + 34 7947 c.7470G>A c.(7468-7470)TCG>TCA p.S2490S NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2490 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CAGGCCTTTCGCGCACACCCA 0.483 NA 31 165 0 0 0 0 NBN 4683 broad.mit.edu 37 8 90960066 90960066 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:90960066C>G uc003yej.1 - 12 2010 c.1900G>C c.(1900-1902)GCT>CCT p.A634P NBN_uc003yei.1_Missense_Mutation_p.A552P|NBN_uc011lgb.1_Missense_Mutation_p.A634P NM_002485 NP_002476 O60934 NBN_HUMAN nibrin 634 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding central_nervous_system(3)|kidney(3)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(11;0.0344) ATTTCTTTAGCTGACCATAGT 0.303 NA Direct_reversal_of_damage|Homologous_recombination Nijmegen_Breakage_syndrome 2 6 0 0 0 0 KCNS2 3788 broad.mit.edu 37 8 99440930 99440930 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:99440930G>T uc003yin.2 + 2 1073 c.723G>T c.(721-723)GAG>GAT p.E241D NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 241 Helical; Name=Segment S2; (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) TCACATTTGAGCTGGTGGCCA 0.532 NA 49 66 2.65e-19 4.43e-19 1 0 CSMD3 114788 broad.mit.edu 37 8 114111143 114111144 + Nonsense_Mutation DNP GG GG TT TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:114111143_114111144GG>TT uc003ynu.2 - 5 917_918 c.758_759CC>AA c.(757-759)TCC>TAA p.S253* CSMD3_uc003ynt.2_Nonsense_Mutation_p.S213*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S253*|CSMD3_uc010mcx.1_Nonsense_Mutation_p.S253* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 253 Extracellular (Potential).|CUB 2. 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 AACTAGGGCTGGATATGATGCC 0.381 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 34 0 0 0 0 SNTB1 6641 broad.mit.edu 37 8 121587411 121587411 + Missense_Mutation SNP T T C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:121587411T>C uc010mdg.2 - 4 1277 c.1051A>G c.(1051-1053)AAA>GAA p.K351E SNTB1_uc003ype.2_Missense_Mutation_p.K351E NM_021021 NP_066301 Q13884 SNTB1_HUMAN basic beta 1 syntrophin 351 PH 2. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding skin(5) 5 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) AAAAGGTCTTTCTCAGTCAGC 0.512 NA 55 99 0 0 0 0 WISP1 8840 broad.mit.edu 37 8 134225121 134225121 + Silent SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:134225121C>A uc003yub.2 + 2 160 c.84C>A c.(82-84)GCC>GCA p.A28A WISP1_uc003yuc.2_Silent_p.A28A|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Silent_p.A28A|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_5'Flank NM_003882 NP_003873 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 28 cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|kidney(1) 2 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) TCTCTCCAGCCCCTACGACCA 0.647 NA 7 9 8.13e-05 0.000110462 1 0 FAM135B 51059 broad.mit.edu 37 8 139151264 139151264 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:139151264C>T uc003yuy.2 - 18 4037 c.3866G>A c.(3865-3867)CGC>CAC p.R1289H FAM135B_uc003yux.2_Missense_Mutation_p.R1190H|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1289 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GAAACATTTGCGCAAATCAGC 0.423 NA HNSCC(54;0.14) 18 56 0 0 0 0 COL22A1 169044 broad.mit.edu 37 8 139691866 139691866 + Nonsense_Mutation SNP A A T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:139691866A>T uc003yvd.2 - 40 3513 c.3066T>A c.(3064-3066)TGT>TGA p.C1022* COL22A1_uc011ljo.1_Intron NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1022 Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TGACCTTAACACATTGCCCTC 0.348 NA HNSCC(7;0.00092) 24 51 0 0 0 0 EIF2C2 27161 broad.mit.edu 37 8 141561467 141561467 + Silent SNP G G A rs142051728 TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:141561467G>A uc003yvn.2 - 11 1378 c.1338C>T c.(1336-1338)ATC>ATT p.I446I EIF2C2_uc010men.2_Silent_p.I369I|EIF2C2_uc010meo.2_Silent_p.I446I NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN argonaute 2 isoform 1 446 mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity 0 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) CCTTGATCTCGATGCCCGTGT 0.592 NA 40 65 0 0 0 0 CYP11B1 1584 broad.mit.edu 37 8 143961004 143961004 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:143961004C>G uc003yxi.2 - 1 233 c.226G>C c.(226-228)GGG>CGG p.G76R CYP11B1_uc003yxj.2_Missense_Mutation_p.G76R|CYP11B1_uc010mey.2_Missense_Mutation_p.G76R NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 76 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) AAAATGGGCCCTAGTTCCTGG 0.632 NA Familial_Hyperaldosteronism_type_I 31 69 0 0 0 0 TOP1MT 116447 broad.mit.edu 37 8 144403486 144403486 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:144403486C>A uc003yxz.2 - 8 1050 c.1031G>T c.(1030-1032)CGC>CTC p.R344L TOP1MT_uc011lkd.1_Missense_Mutation_p.R246L|TOP1MT_uc011lke.1_Missense_Mutation_p.R246L|TOP1MT_uc010mfb.2_Missense_Mutation_p.R246L|TOP1MT_uc011lkf.1_Missense_Mutation_p.R139L|TOP1MT_uc010mfd.1_Missense_Mutation_p.R139L NM_052963 NP_443195 Q969P6 TOP1M_HUMAN mitochondrial topoisomerase I precursor 344 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity ovary(1) 1 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) GTGCTCCACGCGGAGGGAACA 0.607 NA 29 33 3.99e-17 6.53e-17 1 0 PLEC 5339 broad.mit.edu 37 8 144992693 144992693 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:144992693G>A uc003zaf.1 - 32 11877 c.11707C>T c.(11707-11709)CGG>TGG p.R3903W PLEC_uc003zab.1_Missense_Mutation_p.R3766W|PLEC_uc003zac.1_Missense_Mutation_p.R3770W|PLEC_uc003zad.2_Missense_Mutation_p.R3766W|PLEC_uc003zae.1_Missense_Mutation_p.R3734W|PLEC_uc003zag.1_Missense_Mutation_p.R3744W|PLEC_uc003zah.2_Missense_Mutation_p.R3752W|PLEC_uc003zaj.2_Missense_Mutation_p.R3793W NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3903 Globular 2.|Plectin 19. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GTGACCGCCCGCTCAGCCGAG 0.677 NA 7 18 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 144996154 144996154 + Nonsense_Mutation SNP G G C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:144996154G>C uc003zaf.1 - 32 8416 c.8246C>G c.(8245-8247)TCA>TGA p.S2749* PLEC_uc003zab.1_Nonsense_Mutation_p.S2612*|PLEC_uc003zac.1_Nonsense_Mutation_p.S2616*|PLEC_uc003zad.2_Nonsense_Mutation_p.S2612*|PLEC_uc003zae.1_Nonsense_Mutation_p.S2580*|PLEC_uc003zag.1_Nonsense_Mutation_p.S2590*|PLEC_uc003zah.2_Nonsense_Mutation_p.S2598*|PLEC_uc003zaj.2_Nonsense_Mutation_p.S2639* NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2749 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GACCTCCTCTGAGTGCGCCAG 0.632 NA 3 34 0 0 0 0 GPR172A 79581 broad.mit.edu 37 8 145583729 145583729 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:145583729G>A uc003zcc.1 + 3 734 c.577G>A c.(577-579)GCC>ACC p.A193T FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.A193T|GPR172A_uc003zce.1_Missense_Mutation_p.A193T|GPR172A_uc010mfy.1_Missense_Mutation_p.A193T|GPR172A_uc003zcf.1_Missense_Mutation_p.A193T|GPR172A_uc011llc.1_Missense_Mutation_p.A105T NM_024531 NP_078807 Q9HAB3 RFT3_HUMAN G protein-coupled receptor 172A precursor 193 integral to plasma membrane receptor activity|riboflavin transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) GCGTTTTCCCGCCAGCACCTT 0.662 NA 33 64 0 0 0 0 CPSF1 29894 broad.mit.edu 37 8 145626157 145626157 + Silent SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr8:145626157C>T uc003zcj.2 - 7 669 c.594G>A c.(592-594)GAG>GAA p.E198E CPSF1_uc003zck.1_Silent_p.E120E|CPSF1_uc011lle.1_Silent_p.E198E|MIR1234_hsa-mir-1234|MI0006324_5'Flank|CPSF1_uc011llf.1_Silent_p.E198E NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 198 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) TGAGCAGCTTCTCGTCTAGGG 0.637 NA 9 44 0 0 0 0 SMARCA2 6595 broad.mit.edu 37 9 2123782 2123782 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr9:2123782G>A uc003zhc.2 + 27 3925 c.3826G>A c.(3826-3828)GAG>AAG p.E1276K SMARCA2_uc003zhd.2_Missense_Mutation_p.E1276K|SMARCA2_uc010mha.2_Missense_Mutation_p.E1209K NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 1276 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CCGTTTAATGGAGGAGGATGA 0.547 NA 7 36 0 0 0 0 TMEM215 401498 broad.mit.edu 37 9 32784253 32784253 + Silent SNP T T A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr9:32784253T>A uc003zri.3 + 2 437 c.72T>A c.(70-72)GGT>GGA p.G24G NM_212558 NP_997723 Q68D42 TM215_HUMAN transmembrane protein 215 24 Helical; (Potential). integral to membrane 0 TCGTCTTTGGTTTCATGTTCA 0.582 NA 25 16 0 0 0 0 ZBTB5 9925 broad.mit.edu 37 9 37441584 37441584 + Missense_Mutation SNP T T C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr9:37441584T>C uc003zzx.2 - 2 1165 c.965A>G c.(964-966)AAG>AGG p.K322R NM_014872 NP_055687 O15062 ZBTB5_HUMAN zinc finger and BTB domain containing 5 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226) CATGTGCTCCTTCTCACCAAG 0.512 NA 3 88 0 0 0 0 MCART1 92014 broad.mit.edu 37 9 37888027 37888027 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr9:37888027C>T uc004aau.2 - 3 1265 c.521G>A c.(520-522)CGA>CAA p.R174Q MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|uc004aat.1_5'Flank|MCART1_uc004aav.2_Missense_Mutation_p.R174Q NM_033412 NP_219480 Q9H1U9 MCAR1_HUMAN mitochondrial carrier triple repeat 1 174 Solcar 2. transport integral to membrane|mitochondrial inner membrane ovary(2)|breast(1) 3 GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422) CACCAAGCCTCGATAATACTC 0.463 NA 20 61 0 0 0 0 FAM189A2 9413 broad.mit.edu 37 9 72006633 72006633 + Silent SNP G G C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr9:72006633G>C uc010mon.1 + 11 1370 c.1266G>C c.(1264-1266)GGG>GGC p.G422G FAM189A2_uc004ahg.2_Silent_p.G422G|FAM189A2_uc010moo.1_Missense_Mutation_p.E160Q NM_001127608 NP_001121080 Q15884 F1892_HUMAN chromosome 9 open reading frame 61 precursor 422 integral to membrane 0 CACCAGCGGGGAGGCCCCGAG 0.672 NA 3 25 0 0 0 0 FLJ46321 389763 broad.mit.edu 37 9 84603737 84603737 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr9:84603737G>A uc004amn.2 + 1 51 c.4G>A c.(4-6)GAG>AAG p.E2K NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 2 integral to membrane 0 TCAGACCATGGAGAATATCCT 0.502 NA 28 34 0 0 0 0 DAPK1 1612 broad.mit.edu 37 9 90264868 90264868 + Nonsense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr9:90264868G>A uc004apc.2 + 16 1599 c.1461G>A c.(1459-1461)TGG>TGA p.W487* DAPK1_uc004ape.2_Nonsense_Mutation_p.W487*|DAPK1_uc004apd.2_Nonsense_Mutation_p.W487*|DAPK1_uc011ltg.1_Nonsense_Mutation_p.W487*|DAPK1_uc011lth.1_Nonsense_Mutation_p.W224*|DAPK1_uc004apf.1_Nonsense_Mutation_p.W41* NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 487 ANK 4. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 GTGCTGCTTGGCACGGCTATT 0.522 NA Chronic_Lymphocytic_Leukemia_Familial_Clustering_of 18 42 0 0 0 0 PAPPA 5069 broad.mit.edu 37 9 118974201 118974201 + Missense_Mutation SNP G G T rs144109251 TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr9:118974201G>T uc004bjn.2 + 4 2289 c.1908G>T c.(1906-1908)ATG>ATT p.M636I PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.1_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 636 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 ACAACTTCATGAGCTATGCAG 0.512 NA 75 115 5.45e-36 9.54e-36 1 0 OR1L6 392390 broad.mit.edu 37 9 125512877 125512877 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr9:125512877C>G uc011lzc.1 + 1 859 c.859C>G c.(859-861)CTT>GTT p.L287V NM_001004453 NP_001004453 Q8NGR2 OR1L6_HUMAN olfactory receptor, family 1, subfamily L, 287 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGCAGTAGCCCTTTTCTATGG 0.517 NA 20 57 0 0 0 0 LAMC3 10319 broad.mit.edu 37 9 133901891 133901891 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr9:133901891C>T uc004caa.1 + 2 691 c.593C>T c.(592-594)TCC>TTC p.S198F NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 198 Laminin N-terminal. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) AGCGACATCTCCCCGCTGAGT 0.701 NA 9 22 0 0 0 0 EHMT1 79813 broad.mit.edu 37 9 140728957 140728957 + Missense_Mutation SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr9:140728957G>A uc011mfc.1 + 26 3734 c.3697G>A c.(3697-3699)GAG>AAG p.E1233K EHMT1_uc004coe.2_Missense_Mutation_p.E138K NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 1233 SET. DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) CCGCCTGATCGAGGCCGGCGA 0.697 NA 6 32 0 0 0 0 PPEF1 5475 broad.mit.edu 37 X 18836239 18836239 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chrX:18836239C>A uc004cyq.2 + 16 1958 c.1477C>A c.(1477-1479)CAA>AAA p.Q493K PPEF1_uc004cyp.2_Missense_Mutation_p.Q465K|PPEF1_uc004cyr.2_Missense_Mutation_p.Q431K|PPEF1_uc004cys.2_Missense_Mutation_p.Q493K|PPEF1_uc011mja.1_Missense_Mutation_p.Q428K|PPEF1_uc011mjb.1_Missense_Mutation_p.Q437K NM_006240 NP_006231 O14829 PPE1_HUMAN protein phosphatase with EF hand calcium-binding 493 EF-hand 1. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity 0 Hepatocellular(33;0.183) TCGTGCTTTCCAACTTCAAGA 0.353 NA 31 15 5.6e-13 8.8e-13 1 0 FTHL17 53940 broad.mit.edu 37 X 31089993 31089993 + Silent SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chrX:31089993C>G uc004dcl.1 - 1 181 c.78G>C c.(76-78)ACG>ACC p.T26T NM_031894 NP_114100 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 26 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity 0 AGAGCTCCAGCGTGATGTGGC 0.627 NA 23 18 0 0 0 0 DMD 1756 broad.mit.edu 37 X 32536238 32536238 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chrX:32536238C>G uc004dda.1 - 18 2423 c.2179G>C c.(2179-2181)GAT>CAT p.D727H DMD_uc004dcz.2_Missense_Mutation_p.D604H|DMD_uc004dcy.1_Missense_Mutation_p.D723H|DMD_uc004ddb.1_Missense_Mutation_p.D719H|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.D719H NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 727 Spectrin 4. 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) TCAGTTATATCAACATCCAAC 0.333 NA 11 5 0 0 0 0 KCND1 3750 broad.mit.edu 37 X 48822582 48822582 + Missense_Mutation SNP C C A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chrX:48822582C>A uc004dlx.1 - 5 3171 c.1598G>T c.(1597-1599)TGC>TTC p.C533F KCND1_uc004dlw.1_Missense_Mutation_p.C156F NM_004979 NP_004970 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related 533 Cytoplasmic (Potential). voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity ovary(2)|lung(1) 3 CCTGCGAGGGCAGCAAGAAGA 0.682 NA 24 9 4.72e-08 6.85e-08 1 0 CCNB3 85417 broad.mit.edu 37 X 50052941 50052941 + Missense_Mutation SNP A A T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chrX:50052941A>T uc004dox.3 + 6 2070 c.1772A>T c.(1771-1773)AAG>ATG p.K591M CCNB3_uc004doy.2_Missense_Mutation_p.K591M|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 591 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding p.K591T(2) ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) TTACAGGAAAAGAAAATTACT 0.408 NA 13 9 0 0 0 0 KLHL4 56062 broad.mit.edu 37 X 86877360 86877360 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chrX:86877360G>T uc004efb.2 + 5 1256 c.1074G>T c.(1072-1074)CAG>CAT p.Q358H KLHL4_uc004efa.2_Missense_Mutation_p.Q358H NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 358 cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 ATGATGTGCAGAATAGGCAAG 0.408 NA 42 14 7.05e-20 1.18e-19 1 0 GPRASP2 114928 broad.mit.edu 37 X 101969964 101969964 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chrX:101969964C>T uc004ejk.2 + 4 1501 c.167C>T c.(166-168)TCT>TTT p.S56F GPRASP2_uc004ejl.2_Missense_Mutation_p.S56F|GPRASP2_uc004ejm.2_Missense_Mutation_p.S56F|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 56 cytoplasm protein binding ovary(1) 1 GAGACCAAGTCTGTGCCTGCG 0.567 NA 55 16 0 0 0 0 GLRA4 441509 broad.mit.edu 37 X 102979899 102979899 + Silent SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chrX:102979899G>T uc011mse.1 - 2 550 c.129C>A c.(127-129)TCC>TCA p.S43S GLRA4_uc010nou.2_Silent_p.S43S NM_001024452 NP_001019623 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 precursor 43 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity 0 AATCAGAGGGGGACATGGGCT 0.468 NA 7 3 0.00307968 0.00404627 1 0 COL4A5 1287 broad.mit.edu 37 X 107844632 107844632 + Missense_Mutation SNP G G T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chrX:107844632G>T uc004enz.1 + 26 2160 c.1958G>T c.(1957-1959)GGG>GTG p.G653V COL4A5_uc011mso.1_Missense_Mutation_p.G653V|COL4A5_uc004eob.1_Missense_Mutation_p.G261V NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 653 Triple-helical region. G -> R (in APSX; juvenile type). axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 GGTCCTAAAGGGGATCCAGGT 0.408 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 11 2 6.4e-05 8.76e-05 1 0 RGAG1 57529 broad.mit.edu 37 X 109695339 109695339 + Silent SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chrX:109695339C>T uc004eor.1 + 3 1740 c.1494C>T c.(1492-1494)TCC>TCT p.S498S RGAG1_uc011msr.1_Silent_p.S498S NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 498 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 GAAAGATGTCCACGCCACTGA 0.507 NA 96 33 0 0 0 0 DOCK11 139818 broad.mit.edu 37 X 117700005 117700005 + Missense_Mutation SNP T T C TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chrX:117700005T>C uc004eqp.2 + 8 794 c.731T>C c.(730-732)ATG>ACG p.M244T DOCK11_uc004eqq.2_Missense_Mutation_p.M10T NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 244 PH. blood coagulation cytosol GTP binding ovary(3) 3 GAACTCAAGATGTTAGATAAA 0.373 NA 88 20 0 0 0 0 RHOXF2B 727940 broad.mit.edu 37 X 119211023 119211023 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chrX:119211023C>T uc004esj.3 - 2 500 c.310G>A c.(310-312)GTT>ATT p.V104I uc004esi.1_Intron NM_032498 NP_115887 P0C7M4 RHF2B_HUMAN Rhox homeobox family, member 2 104 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CTGTCCTCAACGTTGCCATCG 0.652 NA 11 36 0 0 0 0 THOC2 57187 broad.mit.edu 37 X 122755304 122755304 + Missense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chrX:122755304C>T uc004etu.2 - 31 3952 c.3920G>A c.(3919-3921)CGG>CAG p.R1307Q THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Missense_Mutation_p.R128Q NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 1307 Lys-rich. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 TTTATTTGGCCGCTCTTCCTT 0.343 NA 7 91 0 0 0 0 RBMX2 51634 broad.mit.edu 37 X 129546423 129546423 + Missense_Mutation SNP A A T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chrX:129546423A>T uc004evt.2 + 6 634 c.570A>T c.(568-570)AGA>AGT p.R190S NM_016024 NP_057108 Q9Y388 RBMX2_HUMAN RNA binding motif protein, X-linked 2 190 Lys-rich. nucleotide binding|RNA binding breast(3)|ovary(1) 4 CGTCACCCAGACGCAAGACAG 0.448 NA 33 5 0 0 0 0 GPR112 139378 broad.mit.edu 37 X 135429438 135429438 + Silent SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chrX:135429438C>T uc004ezu.1 + 6 3864 c.3573C>T c.(3571-3573)TTC>TTT p.F1191F GPR112_uc010nsb.1_Silent_p.F986F|GPR112_uc010nsc.1_Silent_p.F958F NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1191 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CATATACTTTCAGTGGTGGTG 0.473 NA 72 25 0 0 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290919 141290919 + Missense_Mutation SNP C C G TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chrX:141290919C>G uc004fbu.1 - 3 1203 c.855G>C c.(853-855)GAG>GAC p.E285D NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 285 MAGE. cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) CCTCCCGATACTCCAGGTAAT 0.502 NA HNSCC(46;0.14) 63 16 0 0 0 0 AFF2 2334 broad.mit.edu 37 X 147743456 147743456 + Nonsense_Mutation SNP C C T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chrX:147743456C>T uc004fcp.2 + 3 687 c.208C>T c.(208-210)CGA>TGA p.R70* AFF2_uc004fco.2_Nonsense_Mutation_p.R66*|AFF2_uc004fcq.2_Nonsense_Mutation_p.R66*|AFF2_uc004fcr.2_Nonsense_Mutation_p.R66*|AFF2_uc011mxb.1_Nonsense_Mutation_p.R70*|AFF2_uc004fcs.2_Nonsense_Mutation_p.R66* NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 70 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) ACTTGCCAACCGAGTCCAGAA 0.388 NA 67 30 0 0 0 0 FUNDC2 65991 broad.mit.edu 37 X 154261754 154261754 + Silent SNP C C T rs147164809 TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chrX:154261754C>T uc004fmw.2 + 2 360 c.210C>T c.(208-210)TTC>TTT p.F70F NM_023934 NP_076423 Q9BWH2 FUND2_HUMAN FUN14 domain containing 2 70 mitochondrion 0 all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GTAAGCTGTTCGGGCAGGAAT 0.458 NA 9 55 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176758976 176758976 + Frame_Shift_Del DEL G G - TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:176758976delG uc001gkz.2 + 18 5911 c.4747delG c.(4747-4749)GGAfs p.G1583fs PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1583 Sushi 3. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CCTGGAAGGTGGAATCTGGGA 0.458 NA 18 30 --- --- --- --- NA NA NA NA TMEM63A 9725 broad.mit.edu 37 1 226034840 226034842 + In_Frame_Del DEL CTG CTG - TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr1:226034840_226034842delCTG uc001hpm.1 - 24 2573_2575 c.2323_2325delCAG c.(2323-2325)CAGdel p.Q775del NM_014698 NP_055513 O94886 TM63A_HUMAN transmembrane protein 63A 775 integral to membrane|lysosomal membrane nucleotide binding ovary(1)|breast(1) 2 Breast(184;0.197) CACCATAGGTCTGCTGCTGCTGC 0.626 NA 7 113 --- --- --- --- NA NA NA NA GATA3 2625 broad.mit.edu 37 10 8100668 8100668 + Frame_Shift_Del DEL G G - TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr10:8100668delG uc001ika.2 + 3 1199 c.642delG c.(640-642)TCGfs p.S214fs GATA3_uc001ijz.2_Frame_Shift_Del_p.S214fs NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 214 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 CCTCCTCGTCGACCCACCACC 0.682 NA F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) 23 49 --- --- --- --- NA NA NA NA E2F8 79733 broad.mit.edu 37 11 19256552 19256556 + Frame_Shift_Del DEL TATGT TATGT - TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:19256552_19256556delTATGT uc001mpm.2 - 5 1023_1027 c.501_505delACATA c.(499-507)TTACATATGfs p.L167fs E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Frame_Shift_Del_p.L167fs NM_024680 NP_078956 A0AVK6 E2F8_HUMAN E2F family member 8 167_169 Potential. cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 CGGCTCACCATATGTAAACTCTCTA 0.444 NA 10 25 --- --- --- --- NA NA NA NA AHNAK 79026 broad.mit.edu 37 11 62298255 62298255 + Frame_Shift_Del DEL C C - TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr11:62298255delC uc001ntl.2 - 5 3934 c.3634delG c.(3634-3636)GATfs p.D1212fs AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1212 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ACATCCACATCCCCTTTGACT 0.478 NA 16 456 --- --- --- --- NA NA NA NA APOB48R 55911 broad.mit.edu 37 16 28506849 28506850 + Frame_Shift_Ins INS - - A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr16:28506849_28506850insA uc002dqb.1 + 2 497_498 c.487_488insA c.(487-489)CATfs p.H163fs uc010vct.1_Intron|APOB48R_uc010byg.1_Translation_Start_Site NM_018690 NP_061160 Q0VD83 APOBR_HUMAN apolipoprotein B48 receptor 163 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle 0 GCAGGAGTCCCATGAGCAGGAA 0.619 NA 3 3 --- --- --- --- NA NA NA NA DNAH9 1770 broad.mit.edu 37 17 11687739 11687739 + Frame_Shift_Del DEL C C - TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr17:11687739delC uc002gne.2 + 41 8012 c.7944delC c.(7942-7944)ATCfs p.I2648fs DNAH9_uc010coo.2_Frame_Shift_Del_p.I1942fs NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2648 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGAAATCCATCCCCCCACTGA 0.532 NA 64 118 --- --- --- --- NA NA NA NA NCAN 1463 broad.mit.edu 37 19 19349086 19349086 + Frame_Shift_Del DEL G G - TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr19:19349086delG uc002nlz.2 + 11 3374 c.3275delG c.(3274-3276)TGGfs p.W1092fs NCAN_uc010ecc.1_Frame_Shift_Del_p.W656fs|NCAN_uc002nma.2_5'Flank NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 1092 C-type lectin. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) GACCGCGGCTGGCATAAGTTC 0.662 NA 42 69 --- --- --- --- NA NA NA NA COL4A3 1285 broad.mit.edu 37 2 228173623 228173623 + Frame_Shift_Del DEL G G - TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr2:228173623delG uc002vom.1 + 49 4633 c.4471delG c.(4471-4473)GGCfs p.G1491fs COL4A3_uc002von.1_Frame_Shift_Del_p.G1491fs|COL4A3_uc002voo.1_Intron|COL4A3_uc002vop.1_Intron|uc002voq.1_Intron|uc002vor.1_Intron|COL4A3_uc010fxf.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN alpha 3 type IV collagen isoform 1 precursor 1491 Required for the anti-angiogenic activity of tumstatin.|Collagen IV NC1. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity skin(2)|ovary(1) 3 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) AGGAACTCTTGGCAGCTGCCT 0.368 NA 75 21 --- --- --- --- NA NA NA NA C4orf21 55345 broad.mit.edu 37 4 113461126 113461127 + Frame_Shift_Ins INS - - T TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr4:113461126_113461127insT uc003iau.2 - 27 6275_6276 c.6064_6065insA c.(6064-6066)AGAfs p.R2022fs C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Frame_Shift_Ins_p.R480fs NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like 844 integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) AACATTCATTCTTTTTTCTGAA 0.406 NA 20 45 --- --- --- --- NA NA NA NA CCNA2 890 broad.mit.edu 37 4 122743676 122743678 + In_Frame_Del DEL CTT CTT - rs140275604 by1000genomes TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr4:122743676_122743678delCTT uc003iec.3 - 2 642_644 c.337_339delAAG c.(337-339)AAGdel p.K113del NM_001237 NP_001228 P20248 CCNA2_HUMAN cyclin A 113 cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity cytoplasm|nucleoplasm protein kinase binding ovary(1) 1 ATTCAGCTGGCTTCTTCTGAGCT 0.433 NA 10 130 --- --- --- --- NA NA NA NA PGBD1 84547 broad.mit.edu 37 6 28269721 28269721 + Frame_Shift_Del DEL T T - TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7a70356c-74a3-40c3-bd32-3049da642831 a6505059-a7f7-44bb-9d7b-9554b28effc9 g.chr6:28269721delT uc003nky.2 + 7 2460 c.2090delT c.(2089-2091)CTGfs p.L697fs PGBD1_uc003nkz.2_Frame_Shift_Del_p.L697fs NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 697 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 ATTATCAGTCTGTGCTCCAAT 0.383 NA 37 71 --- --- --- --- NA NA NA NA