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 PRDM2 7799 broad.mit.edu 37 1 14106924 14106924 + Silent SNP A A G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:14106924A>G uc001avi.2 + 8 3490 c.2634A>G c.(2632-2634)GTA>GTG p.V878V PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.V878V|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.V677V|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 878 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GTAGTGCTGTAAAGAAAAGGA 0.423 NA 26 68 0 0 0 0 PDIK1L 149420 broad.mit.edu 37 1 26448944 26448944 + Missense_Mutation SNP A A G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:26448944A>G uc010oew.1 + 3 1175 c.902A>G c.(901-903)AAT>AGT p.N301S PDIK1L_uc001blj.3_Missense_Mutation_p.N301S|PDIK1L_uc009vsb.2_Missense_Mutation_p.N301S NM_152835 NP_690048 Q8N165 PDK1L_HUMAN PDLIM1 interacting kinase 1 like 301 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity 0 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649) AAATCTATGAATGGGCGAATG 0.398 NA 21 45 0 0 0 0 MAP3K6 9064 broad.mit.edu 37 1 27682581 27682581 + Nonsense_Mutation SNP G G C TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:27682581G>C uc001bny.1 - 27 3896 c.3647C>G c.(3646-3648)TCA>TGA p.S1216* MAP3K6_uc009vsw.1_Nonsense_Mutation_p.S1208* NM_004672 NP_004663 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 1216 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) CTGGTCCGTTGAAAGAGCAGC 0.562 NA 14 41 0 0 0 0 EPHA10 284656 broad.mit.edu 37 1 38227606 38227606 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:38227606G>A uc009vvi.2 - 3 407 c.321C>T c.(319-321)TTC>TTT p.F107F EPHA10_uc001cbw.3_Silent_p.F107F NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 107 Extracellular (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACGGAGTGTGAACTGCAGTT 0.622 NA 41 101 0 0 0 0 FPGT 8790 broad.mit.edu 37 1 74671407 74671407 + Missense_Mutation SNP A A G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:74671407A>G uc001dgb.1 + 4 1713 c.1676A>G c.(1675-1677)TAT>TGT p.Y559C TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Missense_Mutation_p.Y184C|FPGT_uc010oqu.1_Missense_Mutation_p.Y305C|FPGT_uc010oqv.1_Intron NM_003838 NP_003829 O14772 FPGT_HUMAN fucose-1-phosphate guanyltransferase 559 fucose metabolic process cytoplasm fucose-1-phosphate guanylyltransferase activity|GTP binding skin(1) 1 CTGAATAGCTATAAGTTGCTG 0.338 NA 17 43 0 0 0 0 CCDC76 54482 broad.mit.edu 37 1 100598746 100598746 + Missense_Mutation SNP C C A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:100598746C>A uc001dsv.2 + 1 41 c.22C>A c.(22-24)CCG>ACG p.P8T SASS6_uc001dsu.2_5'Flank|SASS6_uc009wdz.2_5'Flank|CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Missense_Mutation_p.P8T NM_019083 NP_061956 Q9NUP7 TRM13_HUMAN coiled-coil domain containing 76 8 tRNA processing metal ion binding|methyltransferase activity ovary(1) 1 all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194) CGCGACGTCGCCGCACGCGCC 0.552 NA 8 33 0.000274275 0.000296909 1 0 SYPL2 284612 broad.mit.edu 37 1 110022065 110022065 + Silent SNP G G C TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:110022065G>C uc001dxp.2 + 6 1080 c.714G>C c.(712-714)CCG>CCC p.P238P SYPL2_uc010ovk.1_Silent_p.P174P NM_001040709 NP_001035799 Q5VXT5 SYPL2_HUMAN mitsugumin 29 238 Cytoplasmic (Potential).|MARVEL. integral to membrane|synaptic vesicle transporter activity ovary(1) 1 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) AGGAGACCCCGTGGCATGGAc 0.413 NA 22 51 0 0 0 0 MOV10 4343 broad.mit.edu 37 1 113240920 113240920 + Silent SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:113240920C>T uc001eck.2 + 16 2598 c.2328C>T c.(2326-2328)ATC>ATT p.I776I MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Silent_p.I776I|MOV10_uc001ecm.2_Silent_p.I716I NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 776 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding ovary(4)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) GCTTTCCCATCATCTTTCACG 0.557 NA 7 28 0 0 0 0 NBPF10 100132406 broad.mit.edu 37 1 145299900 145299900 + Missense_Mutation SNP C C G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:145299900C>G uc001end.3 + 6 984 c.949C>G c.(949-951)CAA>GAA p.Q317E NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.Q317E|NBPF10_uc010oyi.1_5'Flank|NBPF10_uc001emq.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 317 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTTCTAACTCAACTGTCCGG 0.428 NA 22 134 0 0 0 0 HRNR 388697 broad.mit.edu 37 1 152192700 152192700 + Missense_Mutation SNP C C G rs147754674 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:152192700C>G uc001ezt.1 - 3 1481 c.1405G>C c.(1405-1407)GAG>CAG p.E469Q NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 469 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGCTAGACTCGTGGTGACCA 0.567 NA 42 109 0 0 0 0 HRNR 388697 broad.mit.edu 37 1 152192821 152192821 + Missense_Mutation SNP C C G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:152192821C>G uc001ezt.1 - 3 1360 c.1284G>C c.(1282-1284)CAG>CAC p.Q428H NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 428 4 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAGACCCACGCTGGCCGTGGC 0.612 NA 18 44 0 0 0 0 FCRLB 127943 broad.mit.edu 37 1 161697075 161697075 + Missense_Mutation SNP C C A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:161697075C>A uc001gbh.2 + 8 1138 c.904C>A c.(904-906)CCA>ACA p.P302T FCRLB_uc009wus.2_Missense_Mutation_p.P302T|FCRLB_uc001gbj.2_Silent_p.L253L|FCRLB_uc001gbk.2_Missense_Mutation_p.S267Y|FCRLB_uc001gbl.2_Silent_p.L246L|FCRLB_uc001gbm.2_Missense_Mutation_p.S260Y|FCRLB_uc001gbi.2_Missense_Mutation_p.P302T|FCRLB_uc001gbn.3_Missense_Mutation_p.S304Y NM_001002901 NP_001002901 Q6BAA4 FCRLB_HUMAN Fc receptor-like B 302 endoplasmic reticulum 0 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) CGCCCCAGCTCCATGGGCCGC 0.637 NA 11 36 0.000673444 0.000715133 1 0 FCRLB 127943 broad.mit.edu 37 1 161697178 161697178 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:161697178C>T uc001gbh.2 + 8 1241 c.1007C>T c.(1006-1008)TCC>TTC p.S336F FCRLB_uc009wus.2_Missense_Mutation_p.S336F|FCRLB_uc001gbj.2_Missense_Mutation_p.P288S|FCRLB_uc001gbk.2_3'UTR|FCRLB_uc001gbl.2_Missense_Mutation_p.P281S|FCRLB_uc001gbm.2_3'UTR|FCRLB_uc001gbi.2_Missense_Mutation_p.S336F|FCRLB_uc001gbn.3_3'UTR NM_001002901 NP_001002901 Q6BAA4 FCRLB_HUMAN Fc receptor-like B 336 endoplasmic reticulum 0 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) AACACCACCTCCACCGGGCTG 0.692 NA 16 30 0 0 0 0 FAM5B 57795 broad.mit.edu 37 1 177249883 177249883 + Missense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:177249883G>A uc001glf.2 + 8 1883 c.1571G>A c.(1570-1572)CGC>CAC p.R524H FAM5B_uc001glg.2_Missense_Mutation_p.R419H NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 524 extracellular region p.R524H(1) skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 CAGGATAGCCGCATTGAGGTA 0.567 NA 13 22 0 0 0 0 CACNA1E 777 broad.mit.edu 37 1 181701838 181701838 + Silent SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:181701838C>T uc001gow.2 + 20 2781 c.2616C>T c.(2614-2616)ACC>ACT p.T872T CACNA1E_uc009wxs.2_Silent_p.T760T|CACNA1E_uc001gox.1_Silent_p.T98T|CACNA1E_uc009wxt.2_Silent_p.T98T NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 872 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 ACCAGAGGACCCCTTTGTCCC 0.622 NA 10 14 0 0 0 0 FMN2 56776 broad.mit.edu 37 1 240370958 240370958 + Missense_Mutation SNP C C G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:240370958C>G uc010pyd.1 + 5 3071 c.2846C>G c.(2845-2847)CCC>CGC p.P949R FMN2_uc010pye.1_Missense_Mutation_p.P953R NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 949 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCCCTCTACCCGGAGCGGCA 0.697 NA 5 20 0 0 0 0 PRDM11 56981 broad.mit.edu 37 11 45246383 45246383 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr11:45246383C>T uc001myo.2 + 8 1709 c.1460C>T c.(1459-1461)TCG>TTG p.S487L NM_020229 NP_064614 Q9NQV5 PRD11_HUMAN PR domain containing 11 487 p.S487L(1) upper_aerodigestive_tract(1) 1 CCAGAGTTCTCGGACCCTGCA 0.542 NA 30 68 0 0 0 0 OR4A15 81328 broad.mit.edu 37 11 55135388 55135388 + Missense_Mutation SNP T T A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr11:55135388T>A uc010rif.1 + 1 29 c.29T>A c.(28-30)TTT>TAT p.F10Y NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 10 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AATCTCAAATTTATCACTGAC 0.408 NA 7 43 0 0 0 0 GLYAT 10249 broad.mit.edu 37 11 58478154 58478154 + Missense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr11:58478154G>A uc001nnb.2 - 5 552 c.397C>T c.(397-399)CTC>TTC p.L133F GLYAT_uc001nnc.2_Missense_Mutation_p.L133F NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase isoform a 133 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity 0 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) GCCATATAGAGAATGCGTTGT 0.428 NA 32 87 0 0 0 0 ATG2A 23130 broad.mit.edu 37 11 64665596 64665596 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr11:64665596C>T uc001obx.2 - 34 4935 c.4820G>A c.(4819-4821)GGC>GAC p.G1607D ATG2A_uc001obw.2_Missense_Mutation_p.G372D NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1607 protein binding ovary(1)|central_nervous_system(1) 2 GGGGTTGATGCCGGCCACCAG 0.627 NA OREG0004029 type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 4 143 0 0 0 0 TIGD3 220359 broad.mit.edu 37 11 65123651 65123651 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr11:65123651G>A uc001odo.3 + 2 535 c.372G>A c.(370-372)CTG>CTA p.L124L NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 124 H-T-H motif (By similarity).|HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 TCGGCTGGCTGGTCCGCTGGA 0.662 NA 11 42 0 0 0 0 PCNXL3 399909 broad.mit.edu 37 11 65393198 65393198 + Missense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr11:65393198G>A uc001oey.2 + 19 3211 c.3211G>A c.(3211-3213)GTC>ATC p.V1071I PCNXL3_uc009yqn.2_Missense_Mutation_p.V31I|PCNXL3_uc001oez.2_5'Flank NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 1071 Helical; (Potential). integral to membrane 0 CGCCAGCACCGTCTTTATTGC 0.627 NA OREG0021084 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 14 0 0 0 0 SART1 9092 broad.mit.edu 37 11 65735028 65735028 + Missense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr11:65735028G>A uc001ogl.2 + 11 1492 c.1400G>A c.(1399-1401)CGA>CAA p.R467Q NM_005146 NP_005137 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T 467 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol ovary(1) 1 GACGACACCCGAGTGGAGAAC 0.682 NA 10 20 0 0 0 0 MAP6 4135 broad.mit.edu 37 11 75298616 75298616 + Missense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr11:75298616G>A uc001owu.2 - 4 1995 c.1930C>T c.(1930-1932)CCA>TCA p.P644S NM_033063 NP_149052 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 isoform 1 644 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding 0 Ovarian(111;0.11) GGATGCTCTGGGACCATGGGA 0.517 NA 44 138 0 0 0 0 UBE4A 9354 broad.mit.edu 37 11 118243810 118243810 + Missense_Mutation SNP A A C rs111254610 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr11:118243810A>C uc001psw.2 + 7 860 c.731A>C c.(730-732)GAT>GCT p.D244A UBE4A_uc001psv.2_Missense_Mutation_p.D251A NM_004788 NP_004779 Q14139 UBE4A_HUMAN ubiquitination factor E4A 244 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding p.D251A(1) ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 5 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) GATTTTGAAGATGTAACTGAG 0.328 NA 11 24 0 0 0 0 NELL2 4753 broad.mit.edu 37 12 45170851 45170851 + Missense_Mutation SNP C C G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr12:45170851C>G uc001rog.2 - 7 1331 c.736G>C c.(736-738)GAT>CAT p.D246H NELL2_uc001rof.3_Missense_Mutation_p.D245H|NELL2_uc001roh.2_Missense_Mutation_p.D246H|NELL2_uc009zkd.2_Missense_Mutation_p.D245H|NELL2_uc010skz.1_Missense_Mutation_p.D296H|NELL2_uc010sla.1_Missense_Mutation_p.D269H|NELL2_uc001roi.1_Missense_Mutation_p.D246H|NELL2_uc010slb.1_Missense_Mutation_p.D245H|NELL2_uc001roj.2_Missense_Mutation_p.D246H NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 246 TSP N-terminal. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity p.D246H(1) skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) GCTAAAATATCCTGTAGCTCC 0.378 NA 12 49 0 0 0 0 ARID2 196528 broad.mit.edu 37 12 46244616 46244616 + Nonsense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr12:46244616C>T uc001ros.1 + 15 2710 c.2710C>T c.(2710-2712)CAG>TAG p.Q904* ARID2_uc001ror.2_Nonsense_Mutation_p.Q904*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q360*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q531*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q238* NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 904 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.Q904*(1) ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCTCCCTTCTCAGCAAGTTTC 0.483 NA 16 63 0 0 0 0 PAN2 9924 broad.mit.edu 37 12 56720656 56720656 + Missense_Mutation SNP A A T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr12:56720656A>T uc001skx.2 - 7 1380 c.1007T>A c.(1006-1008)TTT>TAT p.F336Y PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Missense_Mutation_p.F336Y|PAN2_uc001sky.2_Missense_Mutation_p.F336Y NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 336 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 TGACACATCAAATGTCATTAG 0.557 NA 32 71 0 0 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559527 129559527 + Missense_Mutation SNP G G T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr12:129559527G>T uc009zyl.1 - 9 2521 c.2193C>A c.(2191-2193)TTC>TTA p.F731L TMEM132D_uc001uia.2_Missense_Mutation_p.F269L NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 731 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) CCATCAAGGAGAAGTCTTTCC 0.473 NA 13 35 1.62e-10 1.84e-10 1 0 TMEM132D 121256 broad.mit.edu 37 12 130184386 130184386 + Missense_Mutation SNP T T C TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr12:130184386T>C uc009zyl.1 - 2 1265 c.937A>G c.(937-939)AGA>GGA p.R313G NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 313 Extracellular (Potential). integral to membrane p.R313G(1) ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GTGGAATTTCTGGAGATGGAA 0.502 NA 10 22 0 0 0 0 B3GALTL 145173 broad.mit.edu 37 13 31891811 31891811 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr13:31891811G>A uc010aaz.2 + 13 1283 c.1173G>A c.(1171-1173)ACG>ACA p.T391T B3GALTL_uc001utn.3_RNA NM_194318 NP_919299 Q6Y288 B3GLT_HUMAN beta 1,3-galactosyltransferase-like 391 Lumenal (Potential). fucose metabolic process endoplasmic reticulum membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2) 2 Lung SC(185;0.0257) all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184) GCTACATCACGGGAGGAGGAG 0.527 NA 15 50 0 0 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21771560 21771560 + Missense_Mutation SNP A A G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr14:21771560A>G uc001wag.2 + 5 658 c.658A>G c.(658-660)ATG>GTG p.M220V NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 220 response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) TGGTCTATGCATGCCTAACAG 0.403 NA 9 24 0 0 0 0 HECTD1 25831 broad.mit.edu 37 14 31598317 31598317 + Silent SNP A A C TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr14:31598317A>C uc001wrc.1 - 25 4749 c.4260T>G c.(4258-4260)GCT>GCG p.A1420A HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Silent_p.A888A NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 1420 Ser-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity ovary(3)|large_intestine(1)|lung(1) 5 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CATGGACATCAGCTCCTGAAA 0.478 NA 3 126 0 0 0 0 FSCB 84075 broad.mit.edu 37 14 44974982 44974982 + Silent SNP G G A rs140508672 by1000genomes TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr14:44974982G>A uc001wvn.2 - 1 1518 c.1209C>T c.(1207-1209)GGC>GGT p.G403G NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 403 Pro-rich. cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) CTTCAAGGGCGCCCTCAGCTG 0.517 NA 20 69 0 0 0 0 ATP5S 27109 broad.mit.edu 37 14 50792426 50792426 + Silent SNP A A G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr14:50792426A>G uc001wxw.1 + 5 1325 c.633A>G c.(631-633)AAA>AAG p.K211K ATP5S_uc001wxx.1_3'UTR|ATP5S_uc010ant.1_Intron NM_001003803 NP_001003803 Q99766 ATP5S_HUMAN ATP synthase, H+ transporting, mitochondrial F0 211 ATP biosynthetic process mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity ovary(1)|skin(1) 2 all_epithelial(31;0.000636)|Breast(41;0.0102) OV - Ovarian serous cystadenocarcinoma(311;0.0685) TGGAACTAAAATTACAATTGA 0.308 NA 28 55 0 0 0 0 SMOC1 64093 broad.mit.edu 37 14 70490018 70490018 + Missense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr14:70490018G>A uc001xls.1 + 11 1398 c.1145G>A c.(1144-1146)CGG>CAG p.R382Q SMOC1_uc001xlt.1_Missense_Mutation_p.R382Q NM_022137 NP_071420 Q9H4F8 SMOC1_HUMAN secreted modular calcium-binding protein 1 382 EF-hand 1.|1 (Potential). cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding p.R382Q(1) upper_aerodigestive_tract(1)|pancreas(1) 2 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) ATTAACAAGCGGGAGATGAAG 0.542 NA 20 61 0 0 0 0 FAM161B 145483 broad.mit.edu 37 14 74413239 74413239 + Missense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr14:74413239G>A uc001xpd.1 - 2 230 c.124C>T c.(124-126)CCC>TCC p.P42S NM_152445 NP_689658 hypothetical protein LOC145483 ovary(1) 1 CTGGCCCTGGGCAAAACCAGC 0.507 NA 4 139 0 0 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42110413 42110413 + Missense_Mutation SNP A A T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr15:42110413A>T uc001zok.3 + 19 2306 c.2020A>T c.(2020-2022)ATC>TTC p.I674F MAPKBP1_uc001zoj.3_Missense_Mutation_p.I668F|MAPKBP1_uc010bcj.2_Missense_Mutation_p.I175F|MAPKBP1_uc010bci.2_Missense_Mutation_p.I668F|MAPKBP1_uc010udb.1_Missense_Mutation_p.I507F|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Missense_Mutation_p.I175F NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 674 WD 11. p.I668F(1) central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) CCCCTCAGGGATCTACATTGC 0.572 NA 11 49 0 0 0 0 IL16 3603 broad.mit.edu 37 15 81592385 81592385 + Silent SNP G G A rs142057384 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr15:81592385G>A uc002bgh.3 + 14 3094 c.2718G>A c.(2716-2718)TCG>TCA p.S906S IL16_uc010blq.1_Silent_p.S860S|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.S948S|IL16_uc002bgg.2_Silent_p.S906S|IL16_uc002bgi.1_Silent_p.S296S|IL16_uc002bgj.2_Silent_p.S400S|IL16_uc002bgk.2_Silent_p.S205S|IL16_uc002bgl.1_Silent_p.S205S|IL16_uc010unq.1_Silent_p.S205S NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 906 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 TACTGTCCTCGGGGTCCCCTG 0.647 NA 3 78 0 0 0 0 FLYWCH1 84256 broad.mit.edu 37 16 2983757 2983757 + Silent SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr16:2983757C>T uc002csd.2 + 6 1653 c.1290C>T c.(1288-1290)TTC>TTT p.F430F FLYWCH1_uc002csb.2_Silent_p.F429F|FLYWCH1_uc002csc.2_Silent_p.F429F|FLYWCH1_uc010bsv.2_Silent_p.F105F NM_032296 NP_115672 Q4VC44 FWCH1_HUMAN FLYWCH-type zinc finger 1 isoform a 430 FLYWCH-type 3. nucleus DNA binding|metal ion binding 0 GGGGCAGCTTCCTGGTGTACG 0.682 NA 7 9 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C rs121912666 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr17:7578190T>C uc002gim.2 - 6 853 c.659A>G c.(658-660)TAT>TGT p.Y220C TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.2_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.1_Missense_Mutation_p.Y181C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 220 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> 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.Y220C(205)|p.Y220N(12)|p.Y220H(9)|p.Y220S(9)|p.0?(7)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(2)|p.Y127C(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.?(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(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) AGGCGGCTCATAGGGCACCAC 0.557 111 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) 8 15 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7579358 7579358 + Missense_Mutation SNP C C A rs11540654 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr17:7579358C>A uc002gim.2 - 4 523 c.329G>T c.(328-330)CGT>CTT p.R110L TP53_uc002gig.1_Missense_Mutation_p.R110L|TP53_uc002gih.2_Missense_Mutation_p.R110L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.R110L|TP53_uc010cni.1_Missense_Mutation_p.R110L|TP53_uc002gij.2_Missense_Mutation_p.R110L|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.R71L|TP53_uc010cnk.1_Missense_Mutation_p.R125L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 110 Interaction with HIPK1 (By similarity).||Interaction with WWOX. R -> G (in a sporadic cancer; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching 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.R110L(24)|p.R110P(8)|p.0?(7)|p.R110fs*13(5)|p.R110C(4)|p.G59fs*23(3)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)|p.R110fs*18(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.R110S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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) GAAGCCCAGACGGAAACCGTA 0.612 111 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) 16 45 0.000422831 0.000455514 1 0 GPR179 440435 broad.mit.edu 37 17 36485397 36485397 + Missense_Mutation SNP C C A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr17:36485397C>A uc002hpz.2 - 11 4076 c.4055G>T c.(4054-4056)AGT>ATT p.S1352I NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 1352 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GGCCTCCACACTGTCCCCCGC 0.627 NA 10 44 1.59e-06 1.76e-06 1 0 DCC 1630 broad.mit.edu 37 18 50942511 50942511 + Missense_Mutation SNP A A C TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr18:50942511A>C uc002lfe.1 + 21 3735 c.3148A>C c.(3148-3150)ATG>CTG p.M1050L DCC_uc010xdr.1_Missense_Mutation_p.M878L|DCC_uc010dpf.1_Missense_Mutation_p.M685L NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1050 Extracellular (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.M1050L(1) skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CCCTGACAAAATGGCTAATGA 0.378 NA 10 10 0 0 0 0 DOK6 220164 broad.mit.edu 37 18 67406313 67406313 + Missense_Mutation SNP A A T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr18:67406313A>T uc002lkl.2 + 6 902 c.712A>T c.(712-714)ATG>TTG p.M238L NM_152721 NP_689934 Q6PKX4 DOK6_HUMAN docking protein 6 238 M -> V (in Ref. 5; BAB71577). insulin receptor binding p.M238L(1) upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Colorectal(73;0.083)|Esophageal squamous(42;0.131) TGAAAGATTAATGCTAGAAAT 0.443 NA 34 35 0 0 0 0 CTDP1 9150 broad.mit.edu 37 18 77489013 77489013 + Missense_Mutation SNP G G C TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr18:77489013G>C uc002lnh.1 + 11 2671 c.2524G>C c.(2524-2526)GAG>CAG p.E842Q CTDP1_uc002lni.1_Intron|CTDP1_uc010drd.1_Missense_Mutation_p.E842Q NM_004715 NP_004706 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 842 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) CAGTATGTCTGAGACAATGCC 0.592 NA 4 189 0 0 0 0 LONP1 9361 broad.mit.edu 37 19 5699115 5699115 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr19:5699115G>A uc002mcx.2 - 10 1641 c.1608C>T c.(1606-1608)ATC>ATT p.I536I LONP1_uc002mcy.2_Silent_p.I472I|LONP1_uc010duh.2_Silent_p.I277I|LONP1_uc010dui.2_Silent_p.I520I|LONP1_uc002mcz.2_Silent_p.I340I NM_004793 NP_004784 P36776 LONM_HUMAN mitochondrial lon peptidase 1 precursor 536 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 GGGCGCGGGCGATGGAGCGAG 0.632 NA 17 71 0 0 0 0 FKBP8 23770 broad.mit.edu 37 19 18649084 18649084 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr19:18649084G>A uc002njk.1 - 5 824 c.711C>T c.(709-711)TTC>TTT p.F237F FKBP8_uc002nji.1_Silent_p.F75F|FKBP8_uc010xqi.1_Silent_p.F266F|FKBP8_uc002njj.1_Silent_p.F238F|FKBP8_uc002njl.1_Silent_p.F238F|FKBP8_uc002njm.1_Silent_p.F237F|FKBP8_uc010ebr.1_Silent_p.F76F|FKBP8_uc002njn.2_RNA NM_012181 NP_036313 Q14318 FKBP8_HUMAN FK506-binding protein 8 237 TPR 1. apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding ovary(1) 1 CGGCCAGGACGAAGTCCGCCC 0.667 NA 5 68 0 0 0 0 ZFP36 7538 broad.mit.edu 37 19 39898771 39898771 + Missense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr19:39898771G>A uc002olh.1 + 2 471 c.413G>A c.(412-414)CGC>CAC p.R138H ZFP36_uc010egn.1_Missense_Mutation_p.A11T NM_003407 NP_003398 P26651 TTP_HUMAN zinc finger protein 36, C3H type, homolog 138 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding pancreas(1) 1 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CAGGCCAATCGCCACCCCAAA 0.612 NA 37 93 0 0 0 0 DHX34 9704 broad.mit.edu 37 19 47856424 47856424 + Missense_Mutation SNP A A G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr19:47856424A>G uc010xyn.1 + 2 478 c.137A>G c.(136-138)GAA>GGA p.E46G DHX34_uc010elc.1_Missense_Mutation_p.E46G NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 46 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) TTCTTCCGTGAAGAGGATTAC 0.537 NA 17 40 0 0 0 0 PPP1R12C 54776 broad.mit.edu 37 19 55605735 55605735 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr19:55605735C>T uc002qix.2 - 13 1677 c.1661G>A c.(1660-1662)CGC>CAC p.R554H PPP1R12C_uc010yfs.1_Missense_Mutation_p.R480H|PPP1R12C_uc002qiy.2_Missense_Mutation_p.R553H NM_017607 NP_060077 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 554 cytoplasm ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) CCGAGACTGGCGCATGAGACG 0.398 NA 12 50 0 0 0 0 SIX2 10736 broad.mit.edu 37 2 45233324 45233324 + Silent SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr2:45233324C>T uc002ruo.2 - 2 1154 c.861G>A c.(859-861)GTG>GTA p.V287V SIX2_uc002rup.2_Silent_p.V289V NM_016932 NP_058628 Q9NPC8 SIX2_HUMAN SIX homeobox 2 287 nucleus sequence-specific DNA binding transcription factor activity pancreas(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AGCCCAGGTCCACGAGGTTGG 0.642 NA 13 56 0 0 0 0 APLF 200558 broad.mit.edu 37 2 68729908 68729908 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr2:68729908C>T uc002sep.2 + 3 387 c.214C>T c.(214-216)CTC>TTC p.L72F APLF_uc010fdf.2_Missense_Mutation_p.L48F NM_173545 NP_775816 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 72 FHA-like. double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding ovary(2) 2 GAAGAGTCAGCTCTTACCATT 0.294 NA 31 76 0 0 0 0 LCT 3938 broad.mit.edu 37 2 136546023 136546023 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr2:136546023G>A uc002tuu.1 - 17 5666 c.5655C>T c.(5653-5655)TAC>TAT p.Y1885Y NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1885 Helical; (Potential). carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) AAAAGAGAACGTACAAAGCTG 0.522 NA 31 146 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141946119 141946119 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr2:141946119C>T uc002tvj.1 - 7 1856 c.884G>A c.(883-885)CGA>CAA p.R295Q LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 295 Extracellular (Potential).|LDL-receptor class B 2. 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) ATAGAGATTTCGAGTGAGCCA 0.408 NA TSP Lung(27;0.18) 13 26 0 0 0 0 FN1 2335 broad.mit.edu 37 2 216298182 216298182 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr2:216298182C>T uc002vfa.2 - 3 546 c.280G>A c.(280-282)GAA>AAA p.E94K FN1_uc002vfb.2_Missense_Mutation_p.E94K|FN1_uc002vfc.2_Missense_Mutation_p.E94K|FN1_uc002vfd.2_Missense_Mutation_p.E94K|FN1_uc002vfe.2_Missense_Mutation_p.E94K|FN1_uc002vff.2_Missense_Mutation_p.E94K|FN1_uc002vfg.2_Missense_Mutation_p.E94K|FN1_uc002vfh.2_Missense_Mutation_p.E94K|FN1_uc002vfi.2_Missense_Mutation_p.E94K|FN1_uc002vfj.2_Missense_Mutation_p.E94K|FN1_uc002vfl.2_Missense_Mutation_p.E94K NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 94 Fibrin- and heparin-binding 1. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAAGTCTCTTCAGCTGAGGGG 0.468 NA 10 32 0 0 0 0 KCNB1 3745 broad.mit.edu 37 20 47991218 47991218 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr20:47991218G>A uc002xur.1 - 2 1043 c.879C>T c.(877-879)CGC>CGT p.R293R KCNB1_uc002xus.1_Silent_p.R293R NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 293 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGACCACGCGGCGGACATTCT 0.537 NA 20 34 0 0 0 0 STAB1 23166 broad.mit.edu 37 3 52553341 52553341 + Missense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr3:52553341G>A uc003dej.2 + 49 5170 c.5096G>A c.(5095-5097)GGC>GAC p.G1699D STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 1699 Extracellular (Potential).|FAS1 5. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity p.G1699D(1) large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCCGTGAACGGCATCCTGCAC 0.642 NA 63 76 0 0 0 0 ARF4 378 broad.mit.edu 37 3 57569702 57569702 + Missense_Mutation SNP T T C TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr3:57569702T>C uc003dix.3 - 3 529 c.181A>G c.(181-183)ATT>GTT p.I61V ARF4_uc003diy.3_RNA|ARF4_uc010hnd.2_Missense_Mutation_p.I34V|ARF4_uc003diz.3_Intron NM_001660 NP_001651 P18085 ARF4_HUMAN ADP-ribosylation factor 4 61 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus GTP binding|GTPase activity p.I61V(1) upper_aerodigestive_tract(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561) GTGAAACAAATGTTCTTATAT 0.353 NA 26 35 0 0 0 0 GPR149 344758 broad.mit.edu 37 3 154055685 154055685 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr3:154055685C>T uc003faa.2 - 4 2099 c.1999G>A c.(1999-2001)GGG>AGG p.G667R NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 667 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GCTGTTTCCCCTAGGTCACAT 0.438 NA 4 143 0 0 0 0 GABRA4 2557 broad.mit.edu 37 4 46930431 46930431 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr4:46930431G>A uc003gxg.2 - 9 1615 c.1476C>T c.(1474-1476)ACC>ACT p.T492T NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 492 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TAGCCCCTATGGTATTAACTG 0.473 NA 16 77 0 0 0 0 LPHN3 23284 broad.mit.edu 37 4 62598970 62598970 + Missense_Mutation SNP A A T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr4:62598970A>T uc010ihh.2 + 5 1066 c.893A>T c.(892-894)GAA>GTA p.E298V LPHN3_uc003hcq.3_Missense_Mutation_p.E298V|LPHN3_uc010ihg.1_Missense_Mutation_p.E366V|LPHN3_uc003hcs.1_Missense_Mutation_p.E127V NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 298 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 CTACGGATCGAAGGAACATGG 0.393 NA 8 37 0 0 0 0 UGT2B11 10720 broad.mit.edu 37 4 70071211 70071211 + Missense_Mutation SNP C C G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr4:70071211C>G uc003heh.2 - 4 1086 c.1077G>C c.(1075-1077)CAG>CAC p.Q359H uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, 359 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 GAAGGTCATTCTGGGGTATCC 0.373 NA 7 127 0 0 0 0 CDS1 1040 broad.mit.edu 37 4 85566477 85566477 + Missense_Mutation SNP A A T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr4:85566477A>T uc011ccv.1 + 12 1753 c.1255A>T c.(1255-1257)AGG>TGG p.R419W CDS1_uc010ike.1_3'UTR NM_001263 NP_001254 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase 1 419 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity large_intestine(2)|ovary(1)|breast(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) AAGTTTTATAAGGTACTTTTA 0.328 NA 29 30 0 0 0 0 ADAM29 11086 broad.mit.edu 37 4 175897355 175897355 + Missense_Mutation SNP G G T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr4:175897355G>T uc003iuc.2 + 5 1349 c.679G>T c.(679-681)GTT>TTT p.V227F ADAM29_uc003iud.2_Missense_Mutation_p.V227F|ADAM29_uc010irr.2_Missense_Mutation_p.V227F|ADAM29_uc011cki.1_Missense_Mutation_p.V227F NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 227 Peptidase M12B.|Extracellular (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GGATCTATATGTTATTGTTAA 0.338 NA 23 42 1.11e-12 1.26e-12 1 0 FAT1 2195 broad.mit.edu 37 4 187518254 187518254 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr4:187518254C>T uc003izf.2 - 25 12628 c.12440G>A c.(12439-12441)GGC>GAC p.G4147D FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_Missense_Mutation_p.G38D NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 4147 Extracellular (Potential).|EGF-like 5; calcium-binding (Potential). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GTGATAGGAGCCGTGCGTGTT 0.587 NA HNSCC(5;0.00058) 9 16 0 0 0 0 ANKH 56172 broad.mit.edu 37 5 14716914 14716914 + Missense_Mutation SNP C C T rs148228793 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr5:14716914C>T uc003jfm.3 - 9 1373 c.1042G>A c.(1042-1044)GTG>ATG p.V348M ANKH_uc003jfl.3_Missense_Mutation_p.V61M NM_054027 NP_473368 Q9HCJ1 ANKH_HUMAN progressive ankylosis protein 348 Extracellular (Potential). locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity p.V348M(1) upper_aerodigestive_tract(1) 1 TTCTCAGACACGTTGGGTGTC 0.463 NA 8 23 0 0 0 0 HMGCR 3156 broad.mit.edu 37 5 74655134 74655134 + Missense_Mutation SNP A A G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr5:74655134A>G uc003kdp.2 + 17 2453 c.2297A>G c.(2296-2298)CAG>CGG p.Q766R HMGCR_uc011cst.1_Missense_Mutation_p.Q786R|HMGCR_uc003kdq.2_Missense_Mutation_p.Q713R|HMGCR_uc010izo.2_Missense_Mutation_p.Q89R|HMGCR_uc010izp.2_Intron NM_000859 NP_000850 P04035 HMDH_HUMAN 3-hydroxy-3-methylglutaryl-Coenzyme A reductase 766 Catalytic. cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding ovary(1) 1 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;2.24e-54) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641) GCCTGTGGACAGGTGAGCTCT 0.453 NA 12 33 0 0 0 0 CDYL 9425 broad.mit.edu 37 6 4935984 4935984 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr6:4935984G>A uc003mwi.2 + 5 1220 c.1089G>A c.(1087-1089)GAG>GAA p.E363E CDYL_uc003mwj.2_Silent_p.E309E|CDYL_uc003mwk.2_Silent_p.E74E|CDYL_uc011dhx.1_Silent_p.E177E|CDYL_uc011dhy.1_Silent_p.E177E NM_001143971 NP_001137443 Q9Y232 CDYL1_HUMAN chromodomain protein, Y chromosome-like isoform 363 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity 0 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) AGTCCTCAGAGAATAACTCAC 0.532 NA 23 70 0 0 0 0 GCM2 9247 broad.mit.edu 37 6 10874807 10874807 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr6:10874807G>A uc003mzn.3 - 5 1014 c.942C>T c.(940-942)GTC>GTT p.V314V SYCP2L_uc011dim.1_Intron NM_004752 NP_004743 O75603 GCM2_HUMAN glial cells missing homolog 2 314 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding ovary(2)|central_nervous_system(1) 3 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) TGTATGAATTGACATTACATT 0.428 NA 52 131 0 0 0 0 HLA-A 3105 broad.mit.edu 37 6 29910349 29910349 + Nonsense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr6:29910349C>T uc003nol.2 + 1 19 c.19C>T c.(19-21)CGA>TGA p.R7* HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Nonsense_Mutation_p.R7*|HLA-A_uc003noo.2_Nonsense_Mutation_p.R7*|HLA-A_uc010jrr.2_Nonsense_Mutation_p.R7*|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.1_5'Flank|HLA-A_uc011dmd.1_5'Flank NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 7 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 CATGGCGCCCCGAACCCTCCT 0.677 NA Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 11 33 0 0 0 0 HSPA1L 3305 broad.mit.edu 37 6 31778484 31778484 + Silent SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr6:31778484G>A uc003nxh.2 - 2 1449 c.1266C>T c.(1264-1266)ATC>ATT p.I422I HSPA1L_uc010jte.2_Silent_p.I422I NM_005527 NP_005518 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 422 response to unfolded protein ATP binding ovary(3)|pleura(1)|kidney(1)|skin(1) 6 GCTTGGTGGGGATGGTGGAGT 0.597 NA 23 68 0 0 0 0 RSPH9 221421 broad.mit.edu 37 6 43638533 43638533 + Missense_Mutation SNP G G T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr6:43638533G>T uc003ovw.1 + 5 704 c.678G>T c.(676-678)TGG>TGT p.W226C RSPH9_uc003ovx.1_Nonsense_Mutation_p.E244* NM_152732 NP_689945 Q9H1X1 RSPH9_HUMAN radial spoke head 9 homolog 226 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton p.W226C(1) upper_aerodigestive_tract(1)|skin(1) 2 CAGGGTCCTGGAGCATCCAGA 0.642 NA Kartagener_syndrome 6 51 7.48e-07 8.34e-07 1 0 WASF1 8936 broad.mit.edu 37 6 110423257 110423257 + Silent SNP T T G TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr6:110423257T>G uc003ptv.1 - 10 1893 c.1056A>C c.(1054-1056)GTA>GTC p.V352V WASF1_uc003ptw.1_Silent_p.V352V|WASF1_uc003ptx.1_Silent_p.V352V|WASF1_uc003pty.1_Silent_p.V352V NM_003931 NP_003922 Q92558 WASF1_HUMAN Wiskott-Aldrich syndrome protein family member 352 Poly-Pro. actin filament polymerization|cellular component movement actin cytoskeleton actin binding 0 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) GTGGGGGAGGTACTGGAGGGG 0.572 NA 8 33 0 0 0 0 ETV1 2115 broad.mit.edu 37 7 13935510 13935510 + Missense_Mutation SNP T T C TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr7:13935510T>C uc011jxq.1 - 14 2154 c.1415A>G c.(1414-1416)AAC>AGC p.N472S ETV1_uc011jxn.1_Missense_Mutation_p.N432S|ETV1_uc011jxo.1_Missense_Mutation_p.N369S|ETV1_uc011jxp.1_Missense_Mutation_p.N414S|ETV1_uc003ssw.3_Missense_Mutation_p.N449S|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.N454S|ETV1_uc011jxs.1_Missense_Mutation_p.N454S NM_004956 NP_004947 P50549 ETV1_HUMAN ets variant gene 1 isoform a 472 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(24)|EWSR1/ETV1(7) prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1) 35 GTAGCCTTCGTTGTAGGGGTG 0.483 NA T EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3 Ewing sarcoma|prostate 6 20 0 0 0 0 TMEM195 392636 broad.mit.edu 37 7 15599868 15599868 + Missense_Mutation SNP A A T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr7:15599868A>T uc003stb.1 - 2 325 c.155T>A c.(154-156)CTG>CAG p.L52Q NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 52 Helical; (Potential). ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 AAGTTCAAGCAGCATCAAAGA 0.378 NA 18 47 0 0 0 0 ELMO1 9844 broad.mit.edu 37 7 37264524 37264524 + Nonsense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr7:37264524G>A uc003tfk.1 - 9 968 c.661C>T c.(661-663)CAG>TAG p.Q221* ELMO1_uc011kbc.1_Nonsense_Mutation_p.Q125*|ELMO1_uc010kxg.1_Nonsense_Mutation_p.Q221* NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 221 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding p.Q221*(1) ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 GTGATCTCCTGCGCCACTTTC 0.532 NA 13 29 0 0 0 0 EPDR1 54749 broad.mit.edu 37 7 37988572 37988572 + Missense_Mutation SNP G G A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr7:37988572G>A uc003tfp.2 + 2 779 c.760G>A c.(760-762)GAA>AAA p.E254K EPDR1_uc003tfq.2_Intron|EPDR1_uc010kxh.2_Missense_Mutation_p.E73K NM_017549 NP_060019 Q9UM22 EPDR1_HUMAN ependymin related protein 1 precursor 134 cell-matrix adhesion extracellular region calcium ion binding p.E254K(1) upper_aerodigestive_tract(1) 1 CTCCACCTTTGAAGACCAGTA 0.512 NA 15 26 0 0 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508605 106508605 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr7:106508605C>T uc003vdv.3 + 2 684 c.599C>T c.(598-600)CCG>CTG p.P200L PIK3CG_uc003vdu.2_Missense_Mutation_p.P200L|PIK3CG_uc003vdw.2_Missense_Mutation_p.P200L NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 200 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 GCCATGCACCCGTGGGTGACG 0.622 NA 15 50 0 0 0 0 GCC1 79571 broad.mit.edu 37 7 127223255 127223255 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr7:127223255C>T uc003vma.2 - 2 1559 c.1141G>A c.(1141-1143)GAG>AAG p.E381K NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 381 Potential. Golgi membrane|plasma membrane protein binding ovary(2) 2 TTGGCTTTCTCGTAGGTGCCT 0.547 NA 32 92 0 0 0 0 RB1CC1 9821 broad.mit.edu 37 8 53573780 53573780 + Missense_Mutation SNP G G A rs151174558 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr8:53573780G>A uc003xre.3 - 10 1978 c.1420C>T c.(1420-1422)CGC>TGC p.R474C RB1CC1_uc003xrf.3_Missense_Mutation_p.R474C NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 474 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding p.R474C(1) ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) ATTACGAGGCGGAGCAAAGCT 0.378 NA 16 66 0 0 0 0 EPPK1 83481 broad.mit.edu 37 8 144944533 144944533 + Silent SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr8:144944533C>T uc003zaa.1 - 1 2902 c.2889G>A c.(2887-2889)CTG>CTA p.L963L NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 963 Plectin 18. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGGCCTCCAGCAGGGCCAGGG 0.716 NA 3 12 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 144993862 144993862 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr8:144993862C>T uc003zaf.1 - 32 10708 c.10538G>A c.(10537-10539)CGC>CAC p.R3513H PLEC_uc003zab.1_Missense_Mutation_p.R3376H|PLEC_uc003zac.1_Missense_Mutation_p.R3380H|PLEC_uc003zad.2_Missense_Mutation_p.R3376H|PLEC_uc003zae.1_Missense_Mutation_p.R3344H|PLEC_uc003zag.1_Missense_Mutation_p.R3354H|PLEC_uc003zah.2_Missense_Mutation_p.R3362H|PLEC_uc003zaj.2_Missense_Mutation_p.R3403H NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3513 Plectin 12.|Globular 2. 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 CAGGCCCCGGCGCATGGCCTC 0.687 NA 12 27 0 0 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971108 21971108 + Missense_Mutation SNP C C T rs11552822 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr9:21971108C>T uc003zpk.2 - 2 462 c.250G>A c.(250-252)GAC>AAC p.D84N MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R139Q NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 84 ANK 3. D -> E (in a bladder tumor).|D -> N (in an esophagus, a head and neck and a lung tumor).|D -> H (in non-small cell lung carcinoma). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.D84Y(9)|p.D84V(4)|p.D84N(3)|p.D84G(2)|p.D84fs*63(2)|p.D84H(2)|p.H83fs*2(2)|p.D84_F90del(1)|p.D84D(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.D84fs*0(1)|p.E61_L94del(1)|p.D84fs*36(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CGGGCAGCGTCGTGCACGGGT 0.741 D84Y(LK2_LUNG)|D84Y(DU145_PROSTATE) 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 4 5 0 0 0 0 ZNF510 22869 broad.mit.edu 37 9 99522150 99522150 + Nonsense_Mutation SNP G G C TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr9:99522150G>C uc004awn.1 - 6 1151 c.962C>G c.(961-963)TCA>TGA p.S321* ZNF510_uc004awo.1_Nonsense_Mutation_p.S321* NM_014930 NP_055745 Q9Y2H8 ZN510_HUMAN zinc finger protein 510 321 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) CTCCACAGTTGACTTCTCAAA 0.358 NA 29 67 0 0 0 0 CXorf22 170063 broad.mit.edu 37 X 35993984 35993984 + Silent SNP C C A rs138251686 TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chrX:35993984C>A uc004ddj.2 + 15 2726 c.2667C>A c.(2665-2667)CCC>CCA p.P889P CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 889 large_intestine(1)|lung(1)|ovary(1) 3 AATGGCAACCCGTAAACACAG 0.348 NA 22 38 7.88e-14 9.05e-14 1 0 MED14 9282 broad.mit.edu 37 X 40511065 40511065 + Missense_Mutation SNP C C T TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chrX:40511065C>T uc004dex.3 - 31 4498 c.4358G>A c.(4357-4359)CGT>CAT p.R1453H NM_004229 NP_004220 O60244 MED14_HUMAN mediator complex subunit 14 1453 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 breast(2)|kidney(1)|skin(1) 4 TGTCTATGGACGCCCACCAGG 0.388 NA 3 3 0 0 0 0 POLR3C 10623 broad.mit.edu 37 1 145608112 145608113 + Frame_Shift_Ins INS - - A TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:145608112_145608113insA uc001eoh.2 - 4 745_746 c.584_585insT c.(583-585)TTGfs p.L195fs NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Frame_Shift_Ins_p.L208fs|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Frame_Shift_Ins_p.L195fs NM_006468 NP_006459 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide 195 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) CCTTACCTATCAAGCTGAGTTT 0.411 NA 23 65 --- --- --- --- NA NA NA NA CR1 1378 broad.mit.edu 37 1 207741172 207741172 + Frame_Shift_Del DEL T T - TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr1:207741172delT uc001hfy.2 + 17 2746 c.2606delT c.(2605-2607)ATCfs p.I869fs CR1_uc009xcl.1_Frame_Shift_Del_p.I419fs|CR1_uc001hfx.2_Frame_Shift_Del_p.I1319fs|CR1_uc009xck.1_Frame_Shift_Del_p.I419fs NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 869 Extracellular (Potential).|Sushi 14. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 TTTCTAGAAATCTTTTGTCCA 0.408 NA 18 47 --- --- --- --- NA NA NA NA TPCN1 53373 broad.mit.edu 37 12 113704096 113704098 + In_Frame_Del DEL CTG CTG - TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr12:113704096_113704098delCTG uc001tuw.2 + 4 646_648 c.349_351delCTG c.(349-351)CTGdel p.L122del TPCN1_uc001tux.2_In_Frame_Del_p.L194del|TPCN1_uc010syt.1_In_Frame_Del_p.L54del NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 122 Helical; Name=S1 of repeat I; (Potential). endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity skin(2)|ovary(1) 3 GGCCACGGCCCTGCTGCTGCTGC 0.64 NA 8 413 --- --- --- --- NA NA NA NA MGA 23269 broad.mit.edu 37 15 42003295 42003297 + In_Frame_Del DEL CAT CAT - TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr15:42003295_42003297delCAT uc001zog.1 + 8 2923_2925 c.2832_2834delCAT c.(2830-2835)GGCATC>GGC p.I946del MGA_uc010ucy.1_In_Frame_Del_p.I946del|MGA_uc010ucz.1_In_Frame_Del_p.I946del NM_001080541 NP_001074010 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 2 946 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) ATTCTTCAGGCATCATCTCAGAA 0.384 NA 48 93 --- --- --- --- NA NA NA NA COL21A1 81578 broad.mit.edu 37 6 56047356 56047357 + Frame_Shift_Del DEL AC AC - TCGA-CV-5976-01A-11D-1683-08 TCGA-CV-5976-11A-01D-1683-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 7b643ce3-43bc-4a14-942a-0d6fcffa0312 2a7557e4-67ae-450b-be12-566874b58886 g.chr6:56047356_56047357delAC uc003pcs.2 - 2 292_293 c.60_61delGT c.(58-63)GTGTTAfs p.V20fs COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Frame_Shift_Del_p.V20fs|COL21A1_uc003pcu.1_Frame_Shift_Del_p.V20fs NM_030820 NP_110447 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 precursor 20_21 cell adhesion collagen|cytoplasm structural molecule activity ovary(2) 2 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TCTTCAGCTAACACAGAATTCT 0.347 NA 6 9 --- --- --- --- NA NA NA NA