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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample CCNL2 81669 broad.mit.edu 37 1 1325721 1325721 + Nonsense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:1325721C>A uc001afi.2 - 8 927 c.895G>T c.(895-897)GAA>TAA p.E299* CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Nonsense_Mutation_p.E77*|CCNL2_uc001afg.1_Nonsense_Mutation_p.E77*|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR NM_030937 NP_112199 Q96S94 CCNL2_HUMAN cyclin L2 isoform A 299 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding ovary(2)|central_nervous_system(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) TTTCTTTTTTCCACTTCACCC 0.552 NaN 1 0 1.59361e-14 0.027894 1.70787e-14 35 56 PGD 5226 broad.mit.edu 37 1 10471526 10471526 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:10471526G>C uc001arc.2 + 7 661 c.571G>C c.(571-573)GAG>CAG p.E191Q PGD_uc001ard.2_Missense_Mutation_p.E111Q|PGD_uc010oak.1_Missense_Mutation_p.E169Q|PGD_uc010oal.1_Missense_Mutation_p.E178Q NM_002631 NP_002622 P52209 6PGD_HUMAN phosphogluconate dehydrogenase 191 Proton donor (By similarity). pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding ovary(1) 1 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) CAACGGGATAGAGTATGGGGA 0.582 NaN 0 0 0 0.024245 0 13 45 EIF4G3 8672 broad.mit.edu 37 1 21177865 21177865 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:21177865G>C uc001bec.2 - 23 3746 c.3490C>G c.(3490-3492)CAG>GAG p.Q1164E EIF4G3_uc010odi.1_Missense_Mutation_p.Q768E|EIF4G3_uc010odj.1_Missense_Mutation_p.Q1163E|EIF4G3_uc009vpz.2_Missense_Mutation_p.Q884E|EIF4G3_uc001bed.2_Missense_Mutation_p.Q1164E|EIF4G3_uc001bef.2_Missense_Mutation_p.Q1200E|EIF4G3_uc001bee.2_Missense_Mutation_p.Q1170E NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 1164 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TCTTGAGACTGATTGTCTAGC 0.522 NaN 0 0 0 0.013114 0 39 84 ASAP3 55616 broad.mit.edu 37 1 23768756 23768756 + Silent SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:23768756G>C uc001bha.2 - 7 718 c.594C>G c.(592-594)CTC>CTG p.L198L ASAP3_uc010odz.1_Silent_p.L67L|ASAP3_uc010oea.1_Silent_p.L189L NM_017707 NP_060177 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 198 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 CCCCGGCTTTGAGCAGATACT 0.567 NaN 0 0 0 0.021553 0 5 14 ARID1A 8289 broad.mit.edu 37 1 27105793 27105793 + Nonsense_Mutation SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:27105793G>T uc001bmv.1 + 20 5777 c.5404G>T c.(5404-5406)GAG>TAG p.E1802* ARID1A_uc001bmu.1_Nonsense_Mutation_p.E1585*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.E648*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.E130*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.E44* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1802 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGAGAATAGTGAGGAGAAGCT 0.438 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 1 0 2.23348e-06 0.028581 2.28993e-06 15 24 ARID1A 8289 broad.mit.edu 37 1 27106492 27106492 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:27106492G>A uc001bmv.1 + 20 6476 c.6103G>A c.(6103-6105)GAG>AAG p.E2035K ARID1A_uc001bmu.1_Missense_Mutation_p.E1818K|ARID1A_uc001bmx.1_Missense_Mutation_p.E881K|ARID1A_uc009vsm.1_Missense_Mutation_p.E363K|ARID1A_uc009vsn.1_Missense_Mutation_p.E277K NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 2035 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TGAAAAGGAGGAGGAACAGGA 0.557 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.01441 0 49 69 ARID1A 8289 broad.mit.edu 37 1 27106953 27106953 + Missense_Mutation SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:27106953G>T uc001bmv.1 + 20 6937 c.6564G>T c.(6562-6564)CAG>CAT p.Q2188H ARID1A_uc001bmu.1_Missense_Mutation_p.Q1971H|ARID1A_uc001bmx.1_Missense_Mutation_p.Q1034H|ARID1A_uc009vsm.1_Missense_Mutation_p.Q516H|ARID1A_uc009vsn.1_Missense_Mutation_p.Q430H NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 2188 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TTGCAGTGCAGAAGGGCAGTA 0.627 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 1 0 3.05275e-18 0.013114 3.2965e-18 41 106 AK2 204 broad.mit.edu 37 1 33490112 33490112 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:33490112C>T uc001bwp.1 - 2 192 c.150G>A c.(148-150)CTG>CTA p.L50L uc001bwn.2_Intron|AK2_uc001bwo.1_Silent_p.L50L|AK2_uc010ohq.1_Silent_p.L50L|AK2_uc009vud.1_Intron|AK2_uc010ohr.1_Silent_p.L2L|AK2_uc001bwq.1_Silent_p.L2L NM_001625 NP_001616 P54819 KAD2_HUMAN adenylate kinase 2 isoform a 50 AMP (By similarity). nucleobase, nucleoside and nucleotide interconversion mitochondrial intermembrane space adenylate kinase activity|ATP binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) CCATGGCCCTCAGCATGTCCC 0.453 NaN 0 0 0 0.028581 0 16 29 KIAA0754 643314 broad.mit.edu 37 1 39878981 39878981 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:39878981C>T uc009vvt.1 + 1 3806 c.3044C>T c.(3043-3045)TCC>TTC p.S1015F MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 879 Ala-rich.|1. 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAGCCCACCTCCCCAGCTGCT 0.697 NaN 0 0 0 0.024245 0 12 17 MACF1 23499 broad.mit.edu 37 1 39910468 39910468 + Missense_Mutation SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:39910468G>T uc010oiu.1 + 45 15026 c.14895G>T c.(14893-14895)CAG>CAT p.Q4965H MACF1_uc010ois.1_Missense_Mutation_p.Q4463H NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TTTTGGAGCAGAAGTGGCATG 0.438 NaN 1 0 2.48696e-23 0.015359 2.74823e-23 30 36 LEPRE1 64175 broad.mit.edu 37 1 43232529 43232529 + Silent SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:43232529G>C uc001chv.2 - 1 227 c.114C>G c.(112-114)CTC>CTG p.L38L LEPRE1_uc001chw.2_Silent_p.L38L|LEPRE1_uc001chx.3_Silent_p.L38L|LEPRE1_uc001chy.3_Silent_p.L38L|LEPRE1_uc001chz.2_Silent_p.L38L|C1orf50_uc001cia.3_5'Flank NM_022356 NP_071751 Q32P28 P3H1_HUMAN leprecan 1 isoform 1 38 TPR 1. negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity ovary(3)|lung(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) CCTCGGCGAAGAGCAGATCAG 0.711 NaN 0 0 0 0.027894 0 33 53 CACHD1 57685 broad.mit.edu 37 1 65095063 65095063 + Missense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:65095063C>A uc001dbo.1 + 5 495 c.390C>A c.(388-390)AAC>AAA p.N130K CACHD1_uc001dbp.1_5'UTR|CACHD1_uc001dbq.1_5'UTR NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN cache domain containing 1 181 Extracellular (Potential). calcium ion transport integral to membrane ovary(2) 2 TGAAATCCAACCCTGGAATTA 0.453 NaN 1 0 6.38683e-12 0.008361 6.81902e-12 26 52 ST6GALNAC3 256435 broad.mit.edu 37 1 77094406 77094406 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:77094406G>A uc001dhh.2 + 5 996 c.833G>A c.(832-834)AGG>AAG p.R278K ST6GALNAC3_uc010orh.1_Missense_Mutation_p.R177K NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN sialyltransferase 7C isoform 1 278 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity ovary(3)|skin(2) 5 GGGGGTCATAGGTTTATCACT 0.378 NaN 0 0 0 0.00499 0 16 32 TMEM56 148534 broad.mit.edu 37 1 95609471 95609471 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:95609471C>G uc001drb.2 + 2 305 c.14C>G c.(13-15)ACA>AGA p.T5R RWDD3_uc001drd.3_Missense_Mutation_p.T5R|TMEM56_uc001drc.2_Missense_Mutation_p.T5R NM_152487 NP_689700 Q96MV1 TMM56_HUMAN transmembrane protein 56 5 integral to membrane 0 all_lung(203;0.0232)|Lung NSC(277;0.0739) all cancers(265;0.133) GAGATCAACACAAAACTGCTC 0.313 NaN 0 0 0 0.014323 0 17 16 PHTF1 10745 broad.mit.edu 37 1 114247322 114247322 + Missense_Mutation SNP A A C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:114247322A>C uc009wgp.1 - 13 2221 c.1769T>G c.(1768-1770)ATT>AGT p.I590S PHTF1_uc001edn.2_Missense_Mutation_p.I590S|PHTF1_uc001edm.2_Missense_Mutation_p.I347S NM_006608 NP_006599 Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 590 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCATATTTTAATATTCTCCAC 0.353 NaN 0 0 0 0.008291 0 10 25 CSDE1 7812 broad.mit.edu 37 1 115261332 115261332 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:115261332C>T uc001efk.2 - 19 2717 c.2251G>A c.(2251-2253)GAT>AAT p.D751N NRAS_uc009wgu.2_5'Flank|CSDE1_uc001efi.2_Missense_Mutation_p.D797N|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.D720N|CSDE1_uc001efm.2_Missense_Mutation_p.D766N|CSDE1_uc009wgv.2_Missense_Mutation_p.D751N|CSDE1_uc001efn.2_Missense_Mutation_p.D720N NM_001007553 NP_001007554 O75534 CSDE1_HUMAN upstream of NRAS isoform 1 751 male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding ovary(1) 1 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ACCAACCGATCAGGTCGAGGA 0.502 NaN 0 0 0 0.016723 0 12 31 PTGFRN 5738 broad.mit.edu 37 1 117529499 117529499 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:117529499C>T uc001egv.1 + 9 2687 c.2550C>T c.(2548-2550)ATC>ATT p.I850I NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor negative regulator 850 Helical; (Potential). endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding liver(1) 1 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) CCTGTCTCATCGGGTACTGCA 0.607 NaN 0 0 0 0.01441 0 53 77 CD5L 922 broad.mit.edu 37 1 157803159 157803159 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:157803159C>T uc001frk.3 - 5 1005 c.862G>A c.(862-864)GGG>AGG p.G288R NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 288 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) AGGGACTTCCCACAGCCCAGT 0.587 NaN 0 0 0 0.013114 0 43 125 MAEL 84944 broad.mit.edu 37 1 166973535 166973535 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:166973535C>T uc001gdy.1 + 6 713 c.642C>T c.(640-642)TAC>TAT p.Y214Y MAEL_uc001gdz.1_Silent_p.Y183Y|MAEL_uc009wvf.1_RNA NM_032858 NP_116247 Q96JY0 MAEL_HUMAN maelstrom homolog 214 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding skin(1) 1 CACCTATCTACTGCAAGGTAA 0.343 NaN 0 0 0 0.00308 0 5 31 FMO3 2328 broad.mit.edu 37 1 171085395 171085395 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:171085395G>A uc001ghi.2 + 8 1342 c.1231G>A c.(1231-1233)GAG>AAG p.E411K FMO3_uc001ghh.2_Missense_Mutation_p.E411K|FMO3_uc010pmb.1_Missense_Mutation_p.E391K|FMO3_uc010pmc.1_Missense_Mutation_p.E348K NM_001002294 NP_001002294 P31513 FMO3_HUMAN flavin containing monooxygenase 3 411 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGATATTAATGAGAAAATGGA 0.358 NaN 0 0 0 0.020292 0 11 23 C1orf9 51430 broad.mit.edu 37 1 172558282 172558282 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:172558282C>G uc001giq.3 + 18 2357 c.2041C>G c.(2041-2043)CTG>GTG p.L681V C1orf9_uc010pmm.1_Missense_Mutation_p.L681V|C1orf9_uc009wwd.2_Missense_Mutation_p.L637V|C1orf9_uc010pmn.1_Intron|C1orf9_uc010pmo.1_RNA NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 681 multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane ovary(2) 2 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) ATTGCAACCTCTGAGTGGAGA 0.408 NaN 0 0 0 0.007413 0 15 81 SLC9A11 284525 broad.mit.edu 37 1 173517647 173517647 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:173517647C>G uc001giz.2 - 12 1765 c.1342G>C c.(1342-1344)GCC>CCC p.A448P SLC9A11_uc009wwe.2_Missense_Mutation_p.A6P|SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 448 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 TGCTGAGTGGCATTTTGCAAG 0.363 NaN 0 0 0 0.006122 0 14 26 CEP350 9857 broad.mit.edu 37 1 179989148 179989148 + Nonsense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:179989148C>T uc001gnt.2 + 12 2622 c.2239C>T c.(2239-2241)CAA>TAA p.Q747* CEP350_uc009wxl.2_Nonsense_Mutation_p.Q746*|CEP350_uc001gnu.2_Nonsense_Mutation_p.Q581* NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 747 centrosome|nucleus|spindle ovary(4) 4 TCACCATTCTCAACCACAGCC 0.383 NaN 0 0 0 0.01441 0 45 92 CEP350 9857 broad.mit.edu 37 1 180063622 180063622 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:180063622G>A uc001gnt.2 + 34 8765 c.8382G>A c.(8380-8382)AAG>AAA p.K2794K CEP350_uc009wxl.2_Silent_p.K2793K|CEP350_uc001gnv.2_Silent_p.K929K|CEP350_uc001gnw.1_Silent_p.K551K|CEP350_uc001gnx.1_Silent_p.K551K NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 2794 centrosome|nucleus|spindle ovary(4) 4 ATGACCAAAAGAAAGTAACAC 0.388 NaN 0 0 0 0.014758 0 3 8 PRG4 10216 broad.mit.edu 37 1 186276169 186276169 + Missense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:186276169C>A uc001gru.3 + 7 1369 c.1318C>A c.(1318-1320)CCC>ACC p.P440T PRG4_uc001grt.3_Missense_Mutation_p.P399T|PRG4_uc009wyl.2_Missense_Mutation_p.P347T|PRG4_uc009wym.2_Missense_Mutation_p.P306T|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 440 59 X 8 AA repeats of K-X-P-X-P-T-T-X.|12. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 ACCCACCACCCCCAAGAAGCC 0.652 NaN 1 0 0.000602214 0.014758 0.000608644 5 99 CDC73 79577 broad.mit.edu 37 1 193121533 193121533 + Missense_Mutation SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:193121533A>G uc001gtb.2 + 10 1174 c.931A>G c.(931-933)ACT>GCT p.T311A NM_024529 NP_078805 Q6P1J9 CDC73_HUMAN parafibromin 311 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding parathyroid(46)|ovary(1)|breast(1)|pancreas(1) 49 CAAAATTGACACTATGGGAAC 0.333 NaN Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome 0 0 0 0.028581 0 12 11 FAM71A 149647 broad.mit.edu 37 1 212798352 212798352 + Missense_Mutation SNP A A T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:212798352A>T uc001hjk.2 + 1 537 c.133A>T c.(133-135)ATA>TTA p.I45L uc010pth.1_Intron NM_153606 NP_705834 Q8IYT1 FA71A_HUMAN hypothetical protein LOC149647 45 skin(3)|ovary(1)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) GTATGCACCGATATTTGAGAG 0.512 NaN 0 0 0 0.01441 0 44 114 C1orf69 200205 broad.mit.edu 37 1 228362441 228362441 + Missense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:228362441C>A uc001hsl.3 + 2 479 c.390C>A c.(388-390)AGC>AGA p.S130R C1orf69_uc010pvw.1_5'UTR NM_001010867 NP_001010867 Q5T440 CAF17_HUMAN hypothetical protein LOC200205 precursor 130 glycine catabolic process|heme biosynthetic process mitochondrion aminomethyltransferase activity 0 Prostate(94;0.0405) AGTGTGACAGCTCGGTGCAGG 0.662 NaN 1 0 0.00448238 0.004482 0.00451417 6 36 OBSCN 84033 broad.mit.edu 37 1 228400372 228400372 + Silent SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:228400372C>G uc009xez.1 + 2 932 c.888C>G c.(886-888)CTC>CTG p.L296L OBSCN_uc001hsn.2_Silent_p.L296L|uc001hsm.1_RNA NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 296 Ig-like 3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) ACTTCGTGCTCAAGATCCTCT 0.657 NaN 0 0 0 0.01441 0 42 110 GALNT2 2590 broad.mit.edu 37 1 230398367 230398367 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:230398367C>G uc010pwa.1 + 12 1257 c.1185C>G c.(1183-1185)TTC>TTG p.F395L GALNT2_uc010pvy.1_Missense_Mutation_p.F357L|GALNT2_uc010pvz.1_RNA|GALNT2_uc001htu.2_Missense_Mutation_p.F7L NM_004481 NP_004472 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 395 Lumenal (Potential). immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) ACAAAAATTTCTATTATGCAG 0.448 NaN 0 0 0 0.01441 0 65 146 OR2G3 81469 broad.mit.edu 37 1 247768909 247768909 + Missense_Mutation SNP T T A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:247768909T>A uc010pyz.1 + 1 22 c.22T>A c.(22-24)TCC>ACC p.S8T NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 8 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CAATGAGAGTTCCCTAATGGA 0.468 NaN 0 0 0 0.010818 0 23 37 C10orf140 387640 broad.mit.edu 37 10 21804750 21804750 + Nonsense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr10:21804750C>A uc009xkd.2 - 4 4255 c.2002G>T c.(2002-2004)GAG>TAG p.E668* uc001iqp.1_Intron NM_207371 NP_997254 Q1XH10 DLN1_HUMAN hypothetical protein LOC387640 587 nucleus nucleotide binding ovary(1) 1 CAGGGATTCTCGGCTTTAGTT 0.433 NaN 1 0 9.16793e-09 0.00499 9.53733e-09 14 18 BLOC1S2 282991 broad.mit.edu 37 10 102045870 102045870 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr10:102045870C>T uc001kqw.1 - 2 179 c.156G>A c.(154-156)CTG>CTA p.L52L BLOC1S2_uc001kqv.1_Silent_p.L9L NM_173809 NP_776170 Q6QNY1 BL1S2_HUMAN biogenesis of lysosome-related organelles 52 melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus gamma-tubulin binding|identical protein binding|protein C-terminus binding ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.44e-10)|all cancers(201;1.97e-08) GTTCCCCAGTCAGGTAAGTGG 0.597 NaN 0 0 0 0.01441 0 70 167 INPP5A 3632 broad.mit.edu 37 10 134591246 134591246 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr10:134591246G>A uc001llp.2 + 13 1297 c.1049G>A c.(1048-1050)CGC>CAC p.R350H INPP5A_uc001llo.1_Missense_Mutation_p.R350H|INPP5A_uc001llq.2_Missense_Mutation_p.R245H NM_005539 NP_005530 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase A 350 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding skin(1) 1 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) TGGTGTGACCGCATCCTCATG 0.652 NaN 0 0 0 0.007835 0 36 56 CDHR5 53841 broad.mit.edu 37 11 621088 621088 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:621088G>A uc001lqj.2 - 7 886 c.781C>T c.(781-783)CAC>TAC p.H261Y CDHR5_uc001lqk.2_Missense_Mutation_p.H261Y|CDHR5_uc009ycc.2_Missense_Mutation_p.H95Y|CDHR5_uc009ycd.2_Missense_Mutation_p.H261Y|CDHR5_uc001lql.2_Missense_Mutation_p.H261Y|CDHR5_uc001lqm.2_Missense_Mutation_p.H95Y|CDHR5_uc009yce.1_Missense_Mutation_p.H230Y NM_021924 NP_068743 Q9HBB8 CDHR5_HUMAN mucin and cadherin-like isoform 1 261 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 ACCAGTATGTGCCCCGTGGGG 0.672 NaN 0 0 0 0.013726 0 28 49 LRDD 55367 broad.mit.edu 37 11 801284 801284 + Missense_Mutation SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:801284G>T uc001lro.1 - 9 1706 c.1564C>A c.(1564-1566)CAG>AAG p.Q522K LRDD_uc009yck.1_RNA|LRDD_uc001lrk.1_Missense_Mutation_p.Q522K|LRDD_uc001lrl.1_Missense_Mutation_p.Q376K|LRDD_uc001lrm.1_Missense_Mutation_p.Q209K|LRDD_uc001lrn.1_Missense_Mutation_p.Q376K|LRDD_uc001lrp.1_Missense_Mutation_p.Q160K NM_145886 NP_665893 Q9HB75 PIDD_HUMAN leucine rich repeat and death domain containing 522 ZU5 2. apoptosis|signal transduction cytoplasm|nucleus death receptor binding 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGACCGCTCTGTGACAGGCAC 0.677 NaN 1 0 7.63505e-26 0.012213 8.47013e-26 27 51 NUP98 4928 broad.mit.edu 37 11 3720533 3720533 + Missense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:3720533C>A uc001lyh.2 - 25 4079 c.3788G>T c.(3787-3789)TGG>TTG p.W1263L NUP98_uc001lyi.2_Missense_Mutation_p.W1263L|NUP98_uc001lyg.2_Missense_Mutation_p.W228L NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 1280 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CAGGTGGCCccatagggcttc 0.299 NaN T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 1 0 5.73435e-26 0.01441 6.38649e-26 40 40 ZNF214 7761 broad.mit.edu 37 11 7022651 7022651 + Missense_Mutation SNP T T G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:7022651T>G uc001mfa.2 - 3 566 c.263A>C c.(262-264)CAA>CCA p.Q88P ZNF214_uc010ray.1_Missense_Mutation_p.Q88P|ZNF214_uc009yfh.1_Missense_Mutation_p.Q88P NM_013249 NP_037381 Q9UL59 ZN214_HUMAN zinc finger protein 214 88 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) ATCTGTCCCTTGAACAGTTTC 0.438 NaN 0 0 0 0.01441 0 122 166 MICAL2 9645 broad.mit.edu 37 11 12247845 12247845 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:12247845G>A uc001mjz.2 + 14 2104 c.1816G>A c.(1816-1818)GAC>AAC p.D606N MICAL2_uc010rch.1_Missense_Mutation_p.D606N|MICAL2_uc001mka.2_Missense_Mutation_p.D606N|MICAL2_uc010rci.1_Missense_Mutation_p.D606N|MICAL2_uc001mkb.2_Missense_Mutation_p.D606N|MICAL2_uc001mkc.2_Missense_Mutation_p.D606N|MICAL2_uc001mkd.2_Missense_Mutation_p.D435N|MICAL2_uc010rcj.1_Missense_Mutation_p.D8N NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 606 CH. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) CCAGGAGCCTGACAAGCTCAG 0.572 NaN 0 0 0 0.010818 0 30 57 KCNJ11 3767 broad.mit.edu 37 11 17409117 17409117 + Silent SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:17409117G>T uc001mna.2 - 1 1090 c.522C>A c.(520-522)GCC>GCA p.A174A KCNJ11_uc001mnb.3_Silent_p.A87A NM_000525 NP_000516 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel J11 174 integral to membrane ATP-activated inward rectifier potassium channel activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) CCCTGCGGTGGGCTTGGGCAG 0.597 NaN OREG0020810 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 3.62473e-10 0.012319 3.82685e-10 17 21 ANO3 63982 broad.mit.edu 37 11 26655840 26655840 + Missense_Mutation SNP T T C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:26655840T>C uc001mqt.3 + 19 2108 c.1963T>C c.(1963-1965)TAT>CAT p.Y655H ANO3_uc010rdr.1_Missense_Mutation_p.Y639H|ANO3_uc010rds.1_Missense_Mutation_p.Y494H|ANO3_uc010rdt.1_Missense_Mutation_p.Y509H NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 655 Helical; (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TTCCATCTTCTATATCGCTTT 0.368 NaN 0 0 0 0.008291 0 10 11 RAG1 5896 broad.mit.edu 37 11 36595001 36595001 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:36595001G>A uc001mwu.3 + 2 271 c.147G>A c.(145-147)AAG>AAA p.K49K RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 49 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) AAAAGGAAAAGAAGGATTCCT 0.438 NaN Familial_Hemophagocytic_Lymphohistiocytosis 0 0 0 0.008291 0 11 23 OR4C46 119749 broad.mit.edu 37 11 51515382 51515382 + Missense_Mutation SNP T T G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:51515382T>G uc010ric.1 + 1 101 c.101T>G c.(100-102)ATC>AGC p.I34S NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 34 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GTCATCTATATCATCACTGTG 0.433 NaN 0 0 0 0.01441 0 51 86 OR5D18 219438 broad.mit.edu 37 11 55587569 55587569 + Nonsense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:55587569C>A uc010rin.1 + 1 464 c.464C>A c.(463-465)TCA>TAA p.S155* NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 155 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) TGGGGAGTCTCATGTTCCTTG 0.478 NaN 1 0 3.50607e-19 0.01441 3.80047e-19 42 70 FAM111B 374393 broad.mit.edu 37 11 58893255 58893255 + Nonsense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:58893255G>A uc001nnl.2 + 4 1928 c.1685G>A c.(1684-1686)TGG>TAG p.W562* FAM111B_uc001nnm.2_Nonsense_Mutation_p.W532*|FAM111B_uc010rko.1_Nonsense_Mutation_p.W532* NM_198947 NP_945185 Q6SJ93 F111B_HUMAN hypothetical protein LOC374393 isoform a 562 catalytic activity p.W562*(1) ovary(2) 2 CCAGGACTATGGCGACAGATT 0.373 NaN 0 0 0 0.020292 0 14 37 CD6 923 broad.mit.edu 37 11 60777201 60777201 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:60777201G>A uc001nqq.2 + 5 1162 c.939G>A c.(937-939)GAG>GAA p.E313E CD6_uc009yni.2_Intron|CD6_uc009ynj.2_Intron|CD6_uc001nqp.2_Silent_p.E313E|CD6_uc001nqr.2_Silent_p.E313E|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Silent_p.E313E NM_006725 NP_006716 P30203 CD6_HUMAN CD6 molecule precursor 313 SRCR 3.|Extracellular (Potential). cell adhesion cell surface|integral to plasma membrane scavenger receptor activity pancreas(1) 1 CTGCGGTTGAGAGGCCCAAGG 0.592 NaN 0 0 0 0.013726 0 29 54 DPP3 10072 broad.mit.edu 37 11 66262701 66262701 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:66262701G>A uc001oig.1 + 13 1476 c.1414G>A c.(1414-1416)GAC>AAC p.D472N DPP3_uc001oif.1_Missense_Mutation_p.D472N|DPP3_uc010rpe.1_Missense_Mutation_p.D461N|DPP3_uc001oih.1_5'Flank NM_005700 NP_005691 Q9NY33 DPP3_HUMAN dipeptidyl peptidase III 472 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity ovary(1)|skin(1) 2 ATTCAACTTTGACCAGGAAAC 0.627 NaN 0 0 0 0.01441 0 52 80 BBS1 582 broad.mit.edu 37 11 66288833 66288833 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:66288833C>G uc001oij.1 + 9 828 c.816C>G c.(814-816)ATC>ATG p.I272M BBS1_uc001oii.1_Missense_Mutation_p.I309M|BBS1_uc010rpf.1_RNA|BBS1_uc010rpg.1_Missense_Mutation_p.I175M|BBS1_uc001oik.1_Missense_Mutation_p.I196M|BBS1_uc001oil.1_Intron|ZDHHC24_uc001oim.1_RNA|ZDHHC24_uc009yrg.1_3'UTR|BBS1_uc010rph.1_5'Flank NM_024649 NP_078925 Q8NFJ9 BBS1_HUMAN Bardet-Biedl syndrome 1 272 nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis BBSome|cilium membrane|cytoplasm protein binding ovary(1) 1 ATGGAAACATCTATATTCTGA 0.552 NaN Bardet-Biedl_syndrome 0 0 0 0.007413 0 16 25 PITPNM1 9600 broad.mit.edu 37 11 67262389 67262389 + Missense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:67262389C>A uc001olx.2 - 17 2859 c.2670G>T c.(2668-2670)GAG>GAT p.E890D PITPNM1_uc001olw.2_Missense_Mutation_p.E172D|PITPNM1_uc001oly.2_Missense_Mutation_p.E890D|PITPNM1_uc001olz.2_Missense_Mutation_p.E889D NM_004910 NP_004901 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, 890 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity lung(2)|central_nervous_system(1) 3 TGGACGGCTCCTCGCATTCCG 0.692 NaN 1 0 1.21526e-53 0.01441 1.37504e-53 84 130 LRP5 4041 broad.mit.edu 37 11 68174203 68174203 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:68174203C>T uc001ont.2 + 9 2088 c.2013C>T c.(2011-2013)CTC>CTT p.L671L LRP5_uc009ysg.2_Silent_p.L81L NM_002335 NP_002326 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 671 Beta-propeller 3.|Extracellular (Potential). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1) 7 CCATCCCGCTCACGGGCGTCA 0.587 NaN 0 0 0 0.008291 0 10 29 ANO1 55107 broad.mit.edu 37 11 70028637 70028637 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:70028637C>T uc001opj.2 + 24 2738 c.2433C>T c.(2431-2433)TTC>TTT p.F811F ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Silent_p.F520F|ANO1_uc010rql.1_5'UTR NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 811 Helical; (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 CGTCTGACTTCATCCCGCGCC 0.612 NaN 0 0 0 0.00632 0 22 42 RSF1 51773 broad.mit.edu 37 11 77411897 77411897 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:77411897C>T uc001oyn.2 - 6 2497 c.2377G>A c.(2377-2379)GAT>AAT p.D793N RSF1_uc001oym.2_Missense_Mutation_p.D541N NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 793 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) GCTTTCTGATCTCTGATCTCA 0.383 NaN 0 0 0 0.008871 0 18 27 JRKL 8690 broad.mit.edu 37 11 96124087 96124087 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:96124087G>C uc009ywu.2 + 2 526 c.274G>C c.(274-276)GCA>CCA p.A92P CCDC82_uc001pfx.3_5'Flank|CCDC82_uc009ywr.2_5'Flank|CCDC82_uc009ywt.1_5'Flank|JRKL_uc001pfy.2_Missense_Mutation_p.A92P NM_003772 NP_003763 Q9Y4A0 JERKL_HUMAN jerky homolog-like 92 HTH CENPB-type. central nervous system development|regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) BRCA - Breast invasive adenocarcinoma(274;0.148) CCAGCAAAGAGCAAAAGGGAA 0.443 NaN 0 0 0 0.01441 0 46 17 IL10RA 3587 broad.mit.edu 37 11 117866303 117866303 + Splice_Site SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:117866303G>T uc001prv.2 + 6 766 c.689_splice c.e6-1 p.Y230_splice IL10RA_uc010rxl.1_Splice_Site_p.Y210_splice|IL10RA_uc010rxm.1_Splice_Site_p.Y210_splice|IL10RA_uc010rxn.1_Splice_Site_p.Y81_splice|IL10RA_uc001prw.2_Splice_Site_p.Y81_splice NM_001558 NP_001549 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha precursor integral to membrane|plasma membrane interleukin-10 receptor activity ovary(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) TGGGCCTGCAGATTTCACCGT 0.577 NaN 1 0 9.50027e-55 0.01441 1.07923e-54 94 24 MLL 4297 broad.mit.edu 37 11 118355688 118355688 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:118355688G>C uc001pta.2 + 10 4353 c.4330G>C c.(4330-4332)GAG>CAG p.E1444Q MLL_uc001ptb.2_Missense_Mutation_p.E1444Q|MLL_uc001pte.1_Intron NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1444 PHD-type 1. Breakpoint for translocation to form MLL- LPP.|Breakpoint for translocation to form MLL- GAS7 oncogene. apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) TGGGCATGTAGAGGTAAGGCA 0.423 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 0 0 0 0.010729 0 12 21 OR8A1 390275 broad.mit.edu 37 11 124440079 124440079 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:124440079G>A uc010san.1 + 1 115 c.115G>A c.(115-117)GAC>AAC p.D39N NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN olfactory receptor, family 8, subfamily A, 39 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) GAAGAGAGCAGACCTCCAGCT 0.527 NaN 0 0 0 0.006122 0 15 28 ARHGAP32 9743 broad.mit.edu 37 11 128844063 128844063 + Nonsense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:128844063G>C uc009zcp.2 - 20 2987 c.2987C>G c.(2986-2988)TCA>TGA p.S996* ARHGAP32_uc009zcq.1_Nonsense_Mutation_p.S956*|ARHGAP32_uc009zco.2_5'UTR|ARHGAP32_uc001qez.2_Nonsense_Mutation_p.S647* NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 996 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 CTGACTGCTTGAGACAGACTG 0.473 NaN 0 0 0 0.010504 0 21 43 SPATA19 219938 broad.mit.edu 37 11 133715054 133715054 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:133715054G>C uc001qgv.1 - 2 161 c.110C>G c.(109-111)TCT>TGT p.S37C NM_174927 NP_777587 Q7Z5L4 SPT19_HUMAN spermatogenesis associated 19 precursor 37 cell differentiation|multicellular organismal development|spermatogenesis mitochondrial outer membrane 0 all_hematologic(175;0.127) all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117) Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207) ATGTAGTACAGACACAGCCTC 0.458 NaN 0 0 0 0.011902 0 34 60 A2M 2 broad.mit.edu 37 12 9248286 9248286 + Missense_Mutation SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:9248286A>G uc001qvk.1 - 16 1975 c.1862T>C c.(1861-1863)CTG>CCG p.L621P A2M_uc009zgk.1_Missense_Mutation_p.L471P NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 621 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) TTCTGGTAGCAGGTTGTAAAC 0.308 NaN 0 0 0 0.007413 0 12 58 PTPRO 5800 broad.mit.edu 37 12 15677896 15677896 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:15677896G>C uc001rcv.1 + 11 2214 c.2040G>C c.(2038-2040)AAG>AAC p.K680N PTPRO_uc001rcw.1_Missense_Mutation_p.K680N NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 680 Fibronectin type-III 7.|Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) AAATTAAAAAGAGTGTATGTT 0.289 NaN 0 0 0 0.010729 0 10 31 PDE3A 5139 broad.mit.edu 37 12 20766459 20766459 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:20766459C>G uc001reh.1 + 3 1116 c.1094C>G c.(1093-1095)TCT>TGT p.S365C NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 365 HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GCAGACCCTTCTCTTCCACCA 0.557 NaN 0 0 0 0.01441 0 60 45 ABCC9 10060 broad.mit.edu 37 12 22059097 22059097 + Silent SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:22059097A>G uc001rfi.1 - 10 1601 c.1581T>C c.(1579-1581)TCT>TCC p.S527S ABCC9_uc001rfh.2_Silent_p.S527S|ABCC9_uc001rfj.1_Silent_p.S527S NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 527 Cytoplasmic (Potential).|ABC transmembrane type-1 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TTTTGAGACTAGATAGTTCTT 0.368 NaN 0 0 0 0.027356 0 18 45 NCKAP5L 57701 broad.mit.edu 37 12 50189001 50189001 + Nonsense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:50189001G>C uc009zlk.2 - 8 2844 c.2642C>G c.(2641-2643)TCA>TGA p.S881* NCKAP5L_uc001rvc.3_Nonsense_Mutation_p.S85*|NCKAP5L_uc001rvb.2_Nonsense_Mutation_p.S474* NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 877 central_nervous_system(1) 1 CTCGATGGCTGAGTGTGGGGC 0.662 NaN 0 0 0 0.01441 0 94 72 BIN2 51411 broad.mit.edu 37 12 51707619 51707619 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:51707619G>A uc001ryg.2 - 2 202 c.150C>T c.(148-150)TTC>TTT p.F50F BIN2_uc009zlz.2_Silent_p.F50F|BIN2_uc001ryh.2_5'UTR|BIN2_uc010sng.1_Silent_p.F24F NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN bridging integrator 2 50 BAR. cytoplasm protein binding ovary(1) 1 GTTGTTGGTAGAAGTTGCTAG 0.468 NaN 0 0 0 0.027894 0 34 43 KRT79 338785 broad.mit.edu 37 12 53215788 53215788 + Silent SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:53215788C>G uc001sbb.2 - 9 1509 c.1476G>C c.(1474-1476)GGG>GGC p.G492G KRT79_uc001sba.2_Silent_p.G263G NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN keratin 6L 492 Tail. keratin filament structural molecule activity ovary(2)|skin(2) 4 CCCCCCCACTCCCACCCAGGG 0.612 NaN 0 0 0 0.009718 0 39 55 GLI1 2735 broad.mit.edu 37 12 57861869 57861869 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:57861869C>T uc001snx.2 + 10 1248 c.1170C>T c.(1168-1170)GAC>GAT p.D390D GLI1_uc009zpq.2_Silent_p.D262D NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 390 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) ATGGTCCTGACGCCCATGTGA 0.572 NaN 0 0 0 0.027356 0 23 67 LRRIQ1 84125 broad.mit.edu 37 12 85450509 85450509 + Silent SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:85450509A>G uc001tac.2 + 8 2049 c.1938A>G c.(1936-1938)CCA>CCG p.P646P LRRIQ1_uc001tab.1_Silent_p.P646P|LRRIQ1_uc001taa.1_Silent_p.P621P NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 646 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) AGGAGAACCCAAAAGACAATG 0.308 NaN 0 0 0 0.021553 0 6 13 C12orf42 374470 broad.mit.edu 37 12 103699968 103699968 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:103699968C>T uc001tjt.2 - 5 503 c.415G>A c.(415-417)GAG>AAG p.E139K C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.E139K|C12orf42_uc001tju.2_Missense_Mutation_p.E44K NM_198521 NP_940923 Q96LP6 CL042_HUMAN hypothetical protein LOC374470 139 ovary(1)|central_nervous_system(1) 2 AATGGGGCCTCATCAGTTTCA 0.463 NaN 0 0 0 0.010504 0 17 14 TBX5 6910 broad.mit.edu 37 12 114832653 114832653 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:114832653C>T uc001tvo.2 - 6 1051 c.556G>A c.(556-558)GTG>ATG p.V186M TBX5_uc001tvp.2_Missense_Mutation_p.V186M|TBX5_uc001tvq.2_Missense_Mutation_p.V136M|TBX5_uc010syv.1_Missense_Mutation_p.V186M NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 186 T-box. cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TCCGCTTTCACGATGTGTAAT 0.363 NaN 0 0 0 0.01441 0 109 101 DNAH10 196385 broad.mit.edu 37 12 124345628 124345628 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:124345628C>T uc001uft.3 + 38 6490 c.6465C>T c.(6463-6465)ATC>ATT p.I2155I NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2155 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCTACGGCATCCTGGACCCAA 0.488 NaN 0 0 0 0.015359 0 31 36 PIWIL1 9271 broad.mit.edu 37 12 130834457 130834457 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:130834457G>A uc001uik.2 + 9 1079 c.989G>A c.(988-990)AGC>AAC p.S330N PIWIL1_uc001uij.1_Missense_Mutation_p.S330N NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 330 PAZ. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) AATCCCAAGAGCACCTTTAAG 0.408 NaN 0 0 0 0.00499 0 14 46 FLT3 2322 broad.mit.edu 37 13 28597565 28597565 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr13:28597565C>G uc001urw.2 - 19 2422 c.2340G>C c.(2338-2340)TTG>TTC p.L780F FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.L780F NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 780 Protein kinase.|Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TAAGCACATTCAAGTCCTCCT 0.353 NaN Mis|O AML|ALL 0 0 0 0.00308 0 7 25 FRY 10129 broad.mit.edu 37 13 32783164 32783164 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr13:32783164C>G uc001utx.2 + 32 4689 c.4193C>G c.(4192-4194)TCT>TGT p.S1398C FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1398 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GTGACTGCTTCTCACGGGCTG 0.592 NaN 0 0 0 0.027894 0 38 91 ALG5 29880 broad.mit.edu 37 13 37563687 37563687 + Silent SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr13:37563687A>G uc001uvy.2 - 5 448 c.381T>C c.(379-381)TAT>TAC p.Y127Y ALG5_uc010teq.1_Silent_p.Y97Y|ALG5_uc010ter.1_RNA NM_013338 NP_037470 Q9Y673 ALG5_HUMAN dolichyl-phosphate beta-glucosyltransferase 127 Lumenal (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity 0 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) TGTCACTTCCATATTTCTGGC 0.284 NaN 0 0 0 0.016522 0 19 34 TSC22D1 8848 broad.mit.edu 37 13 45147390 45147390 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr13:45147390C>T uc001uzn.3 - 1 3312 c.2821G>A c.(2821-2823)GGG>AGG p.G941R TSC22D1_uc001uzo.1_Intron NM_183422 NP_904358 Q15714 T22D1_HUMAN TSC22 domain family, member 1 isoform 1 941 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) CTGCTACTCCCATCTGAAACT 0.547 NaN 0 0 0 0.010818 0 30 16 DACH1 1602 broad.mit.edu 37 13 72440381 72440381 + Nonsense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr13:72440381G>C uc010thn.1 - 2 944 c.521C>G c.(520-522)TCA>TGA p.S174* DACH1_uc010tho.1_Nonsense_Mutation_p.S174*|DACH1_uc010thp.1_Nonsense_Mutation_p.S174* NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 174 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) GGACGGGGTTGAGTACACGGG 0.398 NaN 0 0 0 0.021553 0 6 14 KLF5 688 broad.mit.edu 37 13 73636090 73636090 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr13:73636090C>T uc001vje.2 + 2 677 c.353C>T c.(352-354)TCA>TTA p.S118L KLF5_uc001vjd.2_Missense_Mutation_p.S27L NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 118 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) GACAGTGCCTCAGTCGTAGAC 0.443 NaN 0 0 0 0.027894 0 33 110 RBM26 64062 broad.mit.edu 37 13 79942951 79942951 + Missense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr13:79942951C>A uc001vkz.2 - 6 823 c.809G>T c.(808-810)AGT>ATT p.S270I RBM26_uc001vky.2_Missense_Mutation_p.S270I|RBM26_uc001vla.2_Missense_Mutation_p.S270I|RBM26_uc001vkx.2_5'UTR|RBM26_uc001vlb.1_RNA NM_022118 NP_071401 Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 270 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) TTCAGACCAACTTTCGGTAGT 0.433 NaN 1 0 9.14704e-12 0.00874 9.72944e-12 37 67 KDELC1 79070 broad.mit.edu 37 13 103445990 103445990 + Silent SNP C C T rs144061173 TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr13:103445990C>T uc001vpq.3 - 3 939 c.555G>A c.(553-555)CAG>CAA p.Q185Q KDELC1_uc001vpr.3_5'UTR NM_024089 NP_076994 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 precursor 185 endoplasmic reticulum lumen ovary(1) 1 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GGCTCTGCCTCTGTCCAAATC 0.383 NaN 0 0 0 0.023175 0 34 84 POTEG 404785 broad.mit.edu 37 14 19553758 19553758 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr14:19553758G>C uc001vuz.1 + 1 394 c.342G>C c.(340-342)AAG>AAC p.K114N POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 114 ovary(1) 1 GGAGCGGCAAGAGCAAAGTGG 0.597 NaN 0 0 0 0.01441 0 61 680 SYNE2 23224 broad.mit.edu 37 14 64690078 64690078 + Missense_Mutation SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr14:64690078A>G uc001xgm.2 + 112 20523 c.20293A>G c.(20293-20295)ATG>GTG p.M6765V SYNE2_uc001xgl.2_Missense_Mutation_p.M6788V|SYNE2_uc010apy.2_Missense_Mutation_p.M3150V|SYNE2_uc001xgn.2_Missense_Mutation_p.M1727V|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.M735V|SYNE2_uc001xgq.2_Missense_Mutation_p.M1144V|SYNE2_uc001xgr.2_Missense_Mutation_p.M548V|SYNE2_uc010tsi.1_Missense_Mutation_p.M422V|SYNE2_uc001xgs.2_Missense_Mutation_p.M436V|SYNE2_uc001xgt.2_Missense_Mutation_p.M310V NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6765 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CCAAGATTTAATGGCCTTGCA 0.428 NaN 0 0 0 0.00499 0 15 28 PAPOLA 10914 broad.mit.edu 37 14 97022284 97022284 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr14:97022284G>A uc001yfq.2 + 18 1975 c.1765G>A c.(1765-1767)GGT>AGT p.G589S PAPOLA_uc001yfr.2_Missense_Mutation_p.G588S|PAPOLA_uc010twv.1_Missense_Mutation_p.G589S|PAPOLA_uc010avp.2_Missense_Mutation_p.G339S NM_032632 NP_116021 P51003 PAPOA_HUMAN poly(A) polymerase alpha 589 Ser/Thr-rich. mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding 0 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) AAGCTCAGGGGGTAAGGAGAT 0.403 NaN 0 0 0 0.015359 0 32 29 DYNC1H1 1778 broad.mit.edu 37 14 102461424 102461424 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr14:102461424G>A uc001yks.2 + 14 3599 c.3435G>A c.(3433-3435)CAG>CAA p.Q1145Q NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 1145 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 TCCATTCCCAGATCTCAAAGG 0.463 NaN 0 0 0 0.012319 0 21 35 DYNC1H1 1778 broad.mit.edu 37 14 102476256 102476256 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr14:102476256G>C uc001yks.2 + 30 6218 c.6054G>C c.(6052-6054)ATG>ATC p.M2018I NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 2018 AAA 1 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 TCATCACCATGAACCCTGGCT 0.547 NaN 0 0 0 0.017118 0 31 50 RORA 6095 broad.mit.edu 37 15 60919554 60919554 + Missense_Mutation SNP C C T rs139672315 by1000genomes TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr15:60919554C>T uc002agv.2 - 1 176 c.20G>A c.(19-21)GGA>GAA p.G7E RORA_uc002agw.2_Missense_Mutation_p.G7E|RORA_uc002agx.2_Intron NM_134260 NP_599022 P35398 RORA_HUMAN RAR-related orphan receptor A isoform b 7 Modulating. positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding large_intestine(1)|ovary(1) 2 GTCACTGTCTCCTGGGGCCCC 0.547 NaN 0 0 0 0.01441 0 44 87 SV2B 9899 broad.mit.edu 37 15 91769539 91769539 + Missense_Mutation SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr15:91769539A>G uc002bqv.2 + 1 437 c.46A>G c.(46-48)AGT>GGT p.S16G SV2B_uc002bqt.2_Missense_Mutation_p.S16G|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 16 Cytoplasmic (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) CTATGCTCCCAGTGATGGCTA 0.522 NaN 0 0 0 0.014323 0 20 30 MLST8 64223 broad.mit.edu 37 16 2256159 2256159 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr16:2256159C>G uc002coz.2 + 2 192 c.73C>G c.(73-75)CGC>GGC p.R25G MLST8_uc002coy.2_Missense_Mutation_p.R25G|MLST8_uc002cpa.2_5'UTR|MLST8_uc002cpb.2_Missense_Mutation_p.R25G|MLST8_uc010uvx.1_5'UTR|MLST8_uc002cpc.2_Missense_Mutation_p.R25G|MLST8_uc002cpd.2_5'UTR|MLST8_uc002cpe.2_Missense_Mutation_p.R25G|MLST8_uc010uvy.1_Missense_Mutation_p.R25G|MLST8_uc002cpg.2_Missense_Mutation_p.R44G|MLST8_uc002cph.2_RNA|MLST8_uc002cpf.2_Missense_Mutation_p.R25G NM_022372 NP_071767 Q9BVC4 LST8_HUMAN G protein beta subunit-like 25 WD 1. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding 0 CCACACCGTGCGCTTCTGGCA 0.706 NaN 0 0 0 0.01441 0 46 64 PRSS8 5652 broad.mit.edu 37 16 31144121 31144121 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr16:31144121G>A uc002ebc.3 - 4 752 c.420C>T c.(418-420)CTC>CTT p.L140L PRSS8_uc010vfe.1_Silent_p.L86L NM_002773 NP_002764 Q16651 PRSS8_HUMAN prostasin preproprotein 140 Peptidase S1. proteolysis extracellular space|integral to membrane|plasma membrane serine-type endopeptidase activity 0 TGGGTCTGCTGAGTTGGAGGA 0.642 NaN 0 0 0 0.01441 0 279 88 FUS 2521 broad.mit.edu 37 16 31202302 31202302 + Missense_Mutation SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr16:31202302A>G uc002ebf.2 + 14 1495 c.1412A>G c.(1411-1413)GAT>GGT p.D471G FUS_uc002ebh.2_Missense_Mutation_p.D470G|FUS_uc002ebg.2_Missense_Mutation_p.D266G|FUS_uc002ebi.2_Missense_Mutation_p.D472G|FUS_uc002ebj.2_Missense_Mutation_p.D267G NM_004960 NP_004951 P35637 FUS_HUMAN fusion (involved in t(12;16) in malignant 471 Arg/Gly-rich. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/DDIT3(623)|FUS/ERG(163)|FUS/CREB3L2(158)|FUS/CREB3L1(6)|FUS/ATF1(4)|FUS/FEV(2) soft_tissue(791)|haematopoietic_and_lymphoid_tissue(153)|bone(12)|breast(2) 958 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) TACGGGGATGATCGTCGTGGT 0.592 NaN T DDIT3|ERG|FEV|ATF1|CREB3L2|CREB3L1 liposarcoma|AML|Ewing sarcoma|angiomatoid fibrous histiocytoma|fibromyxoid sarcoma 0 0 0 0.01441 0 53 101 NUP93 9688 broad.mit.edu 37 16 56870618 56870618 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr16:56870618G>A uc002eka.2 + 17 2009 c.1888G>A c.(1888-1890)GAC>AAC p.D630N NUP93_uc002ekb.2_Missense_Mutation_p.D507N|NUP93_uc010vhi.1_Missense_Mutation_p.D507N NM_014669 NP_055484 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 630 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(1)|lung(1) 2 AAAGCTGTATGACCTTGCCAA 0.428 NaN 0 0 0 0.028581 0 14 20 SMYD4 114826 broad.mit.edu 37 17 1686727 1686727 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:1686727C>G uc002ftm.3 - 9 2232 c.2064G>C c.(2062-2064)GAG>GAC p.E688D SMYD4_uc002ftn.1_Missense_Mutation_p.E543D NM_052928 NP_443160 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 688 zinc ion binding skin(3)|kidney(2) 5 ACAGGAAGCTCTCGGCGTCAC 0.612 NaN 0 0 0 0.00499 0 16 50 KIF1C 10749 broad.mit.edu 37 17 4910784 4910784 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:4910784G>A uc002gan.1 + 16 1764 c.1438G>A c.(1438-1440)GGG>AGG p.G480R NM_006612 NP_006603 O43896 KIF1C_HUMAN kinesin family member 1C 480 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity breast(2) 2 GGCTGAGATGGGGGTGGCCGT 0.607 NaN 0 0 0 0.01441 0 65 311 RABEP1 9135 broad.mit.edu 37 17 5257704 5257704 + Silent SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:5257704A>G uc002gbm.3 + 8 1238 c.1014A>G c.(1012-1014)GCA>GCG p.A338A RABEP1_uc010clc.1_Silent_p.A331A|RABEP1_uc010cld.1_Silent_p.A295A|RABEP1_uc010vsw.1_Silent_p.A295A|RABEP1_uc002gbl.3_Silent_p.A338A NM_004703 NP_004694 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 338 Potential. apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity large_intestine(1)|ovary(1) 2 ACAAAAAAGCAGATGTTGAGG 0.323 NaN 0 0 0 0.006214 0 8 30 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C G rs11540652 TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:7577538C>G uc002gim.2 - 7 937 c.743G>C c.(742-744)CGG>CCG p.R248P TP53_uc002gig.1_Missense_Mutation_p.R248P|TP53_uc002gih.2_Missense_Mutation_p.R248P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116P|TP53_uc010cng.1_Missense_Mutation_p.R116P|TP53_uc002gii.1_Missense_Mutation_p.R116P|TP53_uc010cnh.1_Missense_Mutation_p.R248P|TP53_uc010cni.1_Missense_Mutation_p.R248P|TP53_uc002gij.2_Missense_Mutation_p.R248P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155P|TP53_uc002gio.2_Missense_Mutation_p.R116P NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; 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.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 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) 0 0 0 0.01441 0 124 21 GUCY2D 3000 broad.mit.edu 37 17 7906989 7906989 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:7906989G>A uc002gjt.2 + 2 698 c.624G>A c.(622-624)CGG>CGA p.R208R NM_000180 NP_000171 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 208 Extracellular (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) TCAGGGCCCGGGGCCTGCCTG 0.711 NaN 0 0 0 0.010729 0 10 52 MYH4 4622 broad.mit.edu 37 17 10364372 10364372 + Splice_Site SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:10364372C>G uc002gmn.2 - 12 1120 c.1009_splice c.e12-1 p.S337_splice uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 CCACAGCACTCTGTCAAAAGA 0.463 NaN 0 0 0 0.009535 0 22 103 MYH1 4619 broad.mit.edu 37 17 10409366 10409366 + Silent SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:10409366A>G uc002gmo.2 - 18 2113 c.2019T>C c.(2017-2019)TTT>TTC p.F673F uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 673 Myosin head-like.|Actin-binding (By similarity). muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TGCACCGCACAAAGTGGGGGT 0.423 NaN 0 0 0 0.01441 0 35 166 KCNJ12 3768 broad.mit.edu 37 17 21319580 21319580 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:21319580C>G uc002gyv.1 + 3 1631 c.926C>G c.(925-927)ACC>AGC p.T309S NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 309 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) ACAGCCATGACCACCCAGGCC 0.607 NaN Prostate(3;0.18) 0 0 0 0.027356 0 22 268 HNF1B 6928 broad.mit.edu 37 17 36070615 36070615 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:36070615G>A uc002hok.3 - 5 1323 c.1102C>T c.(1102-1104)CAC>TAC p.H368Y HNF1B_uc010wdi.1_Missense_Mutation_p.H342Y NM_000458 NP_000449 P35680 HNF1B_HUMAN hepatocyte nuclear factor 1-beta isoform 1 368 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) TTGCCATGGTGACTGATTGTT 0.537 NaN Hereditary_Prostate_Cancer 0 0 0 0.016522 0 21 46 MED1 5469 broad.mit.edu 37 17 37563898 37563898 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:37563898G>C uc002hrv.3 - 17 4788 c.4576C>G c.(4576-4578)CAT>GAT p.H1526D MED1_uc010wee.1_Missense_Mutation_p.H1354D|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 1526 Lys-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TTGATGCTATGAGATTTTTTC 0.318 NaN HNSCC(31;0.082) 0 0 0 0.016522 0 21 83 C17orf37 84299 broad.mit.edu 37 17 37885818 37885818 + Missense_Mutation SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:37885818A>G uc002hsq.2 - 4 345 c.305T>C c.(304-306)CTA>CCA p.L102P NM_032339 NP_115715 Q9BRT3 CQ037_HUMAN hypothetical protein LOC84299 102 cell redox homeostasis cytosol|membrane selenium binding 0 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;3.72e-63)|all cancers(3;1.87e-56)|BRCA - Breast invasive adenocarcinoma(8;6.8e-45)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) GATCTTTTCTAGGGTTTCTCC 0.542 NaN 0 0 0 0.009718 0 40 190 PLEKHH3 79990 broad.mit.edu 37 17 40823016 40823016 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:40823016C>G uc002iau.2 - 9 1884 c.1417G>C c.(1417-1419)GAG>CAG p.E473Q PLEKHH3_uc010cyl.1_Intron|PLEKHH3_uc002iat.1_Intron|PLEKHH3_uc002iav.2_RNA|PLEKHH3_uc010cym.1_Intron|PLEKHH3_uc002iaw.2_Intron NM_024927 NP_079203 Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H 473 FERM. signal transduction cytoskeleton large_intestine(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) ATTTACTTCTCAAACCTGGTG 0.637 NaN 0 0 0 0.01441 0 69 252 DCAF7 10238 broad.mit.edu 37 17 61628110 61628110 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:61628110G>C uc002jbc.2 + 1 289 c.72G>C c.(70-72)TGG>TGC p.W24C DCAF7_uc002jbb.2_RNA|DCAF7_uc010wpn.1_Missense_Mutation_p.W24C NM_005828 NP_005819 P61962 DCAF7_HUMAN WD-repeat protein 24 multicellular organismal development CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus protein binding ovary(1) 1 CGATGAACTGGAGTGTGCGGC 0.642 NaN 0 0 0 0.027356 0 28 97 ABCA8 10351 broad.mit.edu 37 17 66913593 66913593 + Splice_Site SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:66913593C>T uc002jhp.2 - 15 2107 c.1928_splice c.e15-1 p.D643_splice ABCA8_uc002jhq.2_Splice_Site_p.D683_splice|ABCA8_uc010wqq.1_Splice_Site_p.D683_splice|ABCA8_uc010wqr.1_Splice_Site_p.D622_splice|ABCA8_uc002jhr.2_Splice_Site_p.D683_splice NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) ACTTTCCTGTCTGAAAAAGAA 0.373 NaN 0 0 0 0.007413 0 19 66 PYCR1 5831 broad.mit.edu 37 17 79892301 79892301 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:79892301G>A uc002kcr.1 - 6 976 c.698C>T c.(697-699)TCT>TTT p.S233F PYCR1_uc002kcq.1_Intron|PYCR1_uc002kcp.2_Missense_Mutation_p.S233F|PYCR1_uc002kcs.1_Intron|PYCR1_uc010wvd.1_Missense_Mutation_p.S260F|PYCR1_uc002kct.1_Missense_Mutation_p.S233F|PYCR1_uc002kcu.1_Missense_Mutation_p.S202F|PYCR1_uc010wve.1_Missense_Mutation_p.S154F NM_006907 NP_008838 P32322 P5CR1_HUMAN pyrroline-5-carboxylate reductase 1 isoform 1 233 cellular response to oxidative stress|proline biosynthetic process mitochondrial matrix binding|pyrroline-5-carboxylate reductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) L-Proline(DB00172)|NADH(DB00157) CCCACCAGGAGAGCTGACGTT 0.637 NaN 0 0 0 0.014758 0 5 40 DUS1L 64118 broad.mit.edu 37 17 80017896 80017896 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:80017896C>T uc002kdq.2 - 10 1515 c.1096G>A c.(1096-1098)GAG>AAG p.E366K DUS1L_uc002kdp.2_Missense_Mutation_p.E235K|DUS1L_uc002kdr.2_Missense_Mutation_p.E366K|DUS1L_uc002kds.2_RNA|DUS1L_uc002kdt.2_RNA NM_022156 NP_071439 Q6P1R4 DUS1L_HUMAN PP3111 protein 366 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity skin(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GACAGGACCTCCGTGCCACCC 0.652 NaN 0 0 0 0.021523 0 23 102 USP14 9097 broad.mit.edu 37 18 179002 179002 + Missense_Mutation SNP G G A rs141269921 by1000genomes TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr18:179002G>A uc002kkf.1 + 4 481 c.265G>A c.(265-267)GTA>ATA p.V89I USP14_uc002kkg.1_Intron|USP14_uc010wyr.1_Missense_Mutation_p.V78I NM_005151 NP_005142 P54578 UBP14_HUMAN ubiquitin specific protease 14 isoform a 89 regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2) 2 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) AACTGTCTTCGTAGAAGACAT 0.373 NaN 0 0 0 0.010818 0 25 22 L3MBTL4 91133 broad.mit.edu 37 18 6301906 6301906 + Missense_Mutation SNP A A C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr18:6301906A>C uc002kmz.3 - 4 283 c.123T>G c.(121-123)AGT>AGG p.S41R L3MBTL4_uc010dkt.2_Missense_Mutation_p.S41R NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 41 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|pancreas(1) 3 Colorectal(10;0.0249) AATTACCGTGACTCAAAGGGG 0.338 NaN 0 0 0 0.012213 0 25 118 ANKRD12 23253 broad.mit.edu 37 18 9281059 9281059 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr18:9281059G>A uc002knv.2 + 13 6381 c.6124G>A c.(6124-6126)GAA>AAA p.E2042K ANKRD12_uc002knw.2_Missense_Mutation_p.E2019K|ANKRD12_uc002knx.2_Missense_Mutation_p.E2019K NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 2042 nucleus ovary(2)|central_nervous_system(1) 3 CAGCATTTACGAAATCCAGGA 0.418 NaN 0 0 0 0.01441 0 48 79 CELF4 56853 broad.mit.edu 37 18 34901838 34901838 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr18:34901838G>A uc002lae.2 - 3 772 c.376C>T c.(376-378)CGG>TGG p.R126W CELF4_uc010dnd.1_Missense_Mutation_p.R126W|CELF4_uc002lag.2_Missense_Mutation_p.R126W|CELF4_uc002laf.2_Missense_Mutation_p.R122W|CELF4_uc002lai.2_Missense_Mutation_p.R122W NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 126 RRM 1.|Sufficient for RNA-binding and MSE- dependent splicing activity. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 TGGATCGGCCGGTTCATCTGC 0.597 NaN OREG0024927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 41 67 DSEL 92126 broad.mit.edu 37 18 65180301 65180301 + Nonsense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr18:65180301C>T uc002lke.1 - 2 2799 c.1575G>A c.(1573-1575)TGG>TGA p.W525* NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 515 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) GTTGACCTTCCCAGGGCTTAT 0.488 NaN 0 0 0 0.019004 0 33 75 CSNK1G2 1455 broad.mit.edu 37 19 1978971 1978971 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:1978971C>G uc002lul.3 + 7 1084 c.561C>G c.(559-561)ATC>ATG p.I187M CSNK1G2_uc010dsu.2_Missense_Mutation_p.I139M NM_001319 NP_001310 P78368 KC1G2_HUMAN casein kinase 1, gamma 2 187 Protein kinase. sphingolipid metabolic process|Wnt receptor signaling pathway cytosol ATP binding|protein serine/threonine kinase activity stomach(1) 1 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCACATCATCGACTTCGGGC 0.617 NaN 0 0 0 0.027894 0 35 82 AES 166 broad.mit.edu 37 19 3053861 3053861 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:3053861C>T uc002lwy.1 - 7 723 c.550G>A c.(550-552)GAT>AAT p.D184N AES_uc002lwx.1_3'UTR|AES_uc002lwz.1_Missense_Mutation_p.D183N|AES_uc002lxa.1_Missense_Mutation_p.D128N|AES_uc002lxb.1_Missense_Mutation_p.D251N|AES_uc002lxc.2_Missense_Mutation_p.R277Q NM_001130 NP_001121 Q08117 AES_HUMAN amino-terminal enhancer of split isoform b 184 CCN domain. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGTCACCATCGTGCCCGTTC 0.682 NaN 0 0 0 0.024334 0 19 83 PLIN3 10226 broad.mit.edu 37 19 4852049 4852049 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:4852049G>A uc002mbj.2 - 5 790 c.613C>T c.(613-615)CCC>TCC p.P205S PLIN3_uc002mbk.2_Missense_Mutation_p.P193S|PLIN3_uc002mbl.3_Missense_Mutation_p.P205S NM_005817 NP_005808 O60664 PLIN3_HUMAN mannose 6 phosphate receptor binding protein 1 205 vesicle-mediated transport endosome membrane|Golgi apparatus|lipid particle protein binding 0 Galsulfase(DB01279)|Idursulfase(DB01271) TCCGTAAGGGGCAGGTGGTTG 0.682 NaN OREG0025175 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.016522 0 18 81 GPR108 56927 broad.mit.edu 37 19 6731901 6731901 + Splice_Site SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:6731901C>T uc002mfp.2 - 14 1346 c.1300_splice c.e14+1 p.V434_splice GPR108_uc010duv.2_Intron|GPR108_uc002mfn.2_Splice_Site_p.V105_splice|GPR108_uc002mfo.3_Splice_Site_p.V192_splice|GPR108_uc010duw.2_Splice_Site NM_001080452 NP_001073921 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 isoform 1 integral to membrane 0 CAGGGCCTCACCCTTCCCGTC 0.662 NaN 0 0 0 0.020292 0 13 1 CLEC4M 10332 broad.mit.edu 37 19 7833781 7833781 + Silent SNP G G A rs144974332 TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:7833781G>A uc002mih.2 + 8 1156 c.1038G>A c.(1036-1038)GCG>GCA p.A346A CLEC4M_uc010xjw.1_Silent_p.A302A|CLEC4M_uc010dvt.2_Silent_p.A323A|CLEC4M_uc010dvs.2_Silent_p.A345A|CLEC4M_uc010xjx.1_Silent_p.A318A|CLEC4M_uc002mhz.2_3'UTR|CLEC4M_uc002mic.2_3'UTR|CLEC4M_uc002mia.2_Silent_p.A233A NM_001144910 NP_001138382 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M isoform 369 Extracellular (Probable).|C-type lectin. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding pancreas(1) 1 AAGACTGTGCGGAATTTAGTG 0.512 NaN 0 0 0 0.00499 0 14 148 EVI5L 115704 broad.mit.edu 37 19 7918186 7918186 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:7918186G>C uc002min.2 + 10 1267 c.1113G>C c.(1111-1113)AAG>AAC p.K371N EVI5L_uc010xjz.1_Missense_Mutation_p.K371N|EVI5L_uc002mio.1_Missense_Mutation_p.K102N NM_145245 NP_660288 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like isoform 371 Potential. intracellular protein binding|Rab GTPase activator activity ovary(1) 1 CAGCCATGAAGAGCAAGGAGA 0.627 NaN OREG0025211 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00308 0 7 15 MUC16 94025 broad.mit.edu 37 19 9017366 9017366 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:9017366C>T uc002mkp.2 - 26 38162 c.37958G>A c.(37957-37959)AGG>AAG p.R12653K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12655 SEA 4.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAGACTGTTCCTGTCCAGGGT 0.567 NaN 0 0 0 0.01441 0 259 52 MUC16 94025 broad.mit.edu 37 19 9072253 9072253 + Missense_Mutation SNP A A C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:9072253A>C uc002mkp.2 - 3 15397 c.15193T>G c.(15193-15195)TCC>GCC p.S5065A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5067 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S5065Y(1) lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ATAGGAGAGGAGAGCTTATCC 0.478 NaN 0 0 0 0.01441 0 65 18 OR7G2 390882 broad.mit.edu 37 19 9213857 9213857 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:9213857C>T uc010xkk.1 - 1 126 c.126G>A c.(124-126)CCG>CCA p.P42P NM_001005193 NP_001005193 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, 21 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GCTGCAGTTCCGGATCCTCTA 0.468 NaN 0 0 0 0.017118 0 30 94 ZNF426 79088 broad.mit.edu 37 19 9639507 9639507 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:9639507G>A uc002mlq.2 - 8 1478 c.1214C>T c.(1213-1215)TCA>TTA p.S405L ZNF426_uc010dws.2_Missense_Mutation_p.S367L NM_024106 NP_077011 Q9BUY5 ZN426_HUMAN zinc finger protein 426 405 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ACTAAGATTTGAGGAAACTGC 0.408 NaN 0 0 0 0.004482 0 8 27 ZNF844 284391 broad.mit.edu 37 19 12187502 12187502 + Missense_Mutation SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:12187502A>G uc002mtb.2 + 4 1710 c.1567A>G c.(1567-1569)AAA>GAA p.K523E ZNF844_uc010dym.1_Missense_Mutation_p.K366E NM_001136501 NP_001129973 Q08AG5 ZN844_HUMAN zinc finger protein 844 523 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CAAATGCATGAAAGGACTCAC 0.413 NaN 0 0 0 0.014758 0 4 44 FCHO1 23149 broad.mit.edu 37 19 17892531 17892531 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:17892531G>A uc010ebb.2 + 22 2028 c.1839G>A c.(1837-1839)CGG>CGA p.R613R FCHO1_uc002nhg.3_Silent_p.R613R|FCHO1_uc002nhh.2_Silent_p.R613R|FCHO1_uc010xpw.1_Silent_p.R563R|FCHO1_uc002nhi.2_Silent_p.R69R|FCHO1_uc002nhj.2_5'UTR NM_001161358 NP_001154830 O14526 FCHO1_HUMAN FCH domain only 1 isoform b 613 breast(1) 1 GAGTCTCCCGGGGTCCGAGCC 0.627 NaN 0 0 0 0.01441 0 214 45 KIAA1683 80726 broad.mit.edu 37 19 18378333 18378333 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:18378333C>G uc002nin.2 - 3 233 c.17G>C c.(16-18)AGA>ACA p.R6T KIAA1683_uc010ebn.2_Missense_Mutation_p.R6T|KIAA1683_uc010xqe.1_5'UTR NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 6 mitochondrion ovary(2) 2 CAGGTCAGCTCTGCCTGTGGG 0.652 NaN 0 0 0 0.01441 0 88 177 ZNF626 199777 broad.mit.edu 37 19 20807986 20807986 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:20807986C>G uc002npb.1 - 4 847 c.697G>C c.(697-699)GAA>CAA p.E233Q ZNF626_uc002npc.1_Missense_Mutation_p.E157Q NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 233 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TTGCCACATTCTTCACATTTG 0.398 NaN 0 0 0 0.020292 0 11 41 ZNF536 9745 broad.mit.edu 37 19 31039640 31039640 + Silent SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:31039640A>G uc002nsu.1 + 4 3252 c.3114A>G c.(3112-3114)ACA>ACG p.T1038T ZNF536_uc010edd.1_Silent_p.T1038T NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1038 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TCGGGGTCACAGTCAACTGCA 0.537 NaN 0 0 0 0.015359 0 32 104 PRX 57716 broad.mit.edu 37 19 40909668 40909668 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:40909668G>A uc002onr.2 - 5 398 c.129C>T c.(127-129)TTC>TTT p.F43F PRX_uc002onq.2_5'UTR|PRX_uc002ons.2_Silent_p.F43F NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 43 PDZ. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCTCCCGAACGAAGATTCCCT 0.701 NaN 0 0 0 0.021553 0 5 15 PNMAL2 57469 broad.mit.edu 37 19 46997598 46997598 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:46997598G>A uc002pes.2 - 1 1572 c.1125C>T c.(1123-1125)GTC>GTT p.V375V uc002peu.1_5'Flank NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN PNMA-like 2 375 central_nervous_system(1) 1 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) TGACGGACAAGACCTGTCGGA 0.642 NaN 0 0 0 0.004482 0 8 41 PTGIR 5739 broad.mit.edu 37 19 47124612 47124612 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:47124612G>A uc002pex.2 - 3 1199 c.1086C>T c.(1084-1086)CCC>CCT p.P362P NM_000960 NP_000951 P43119 PI2R_HUMAN prostaglandin I2 (prostacyclin) receptor (IP) 362 Cytoplasmic (Potential). cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity 0 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331) Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929) ACTGCTGTGTGGGAGGCAAGG 0.657 NaN 0 0 0 0.01441 0 53 15 GRLF1 2909 broad.mit.edu 37 19 47424411 47424411 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:47424411G>A uc010ekv.2 + 1 2479 c.2479G>A c.(2479-2481)GGA>AGA p.G827R NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 827 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) ACTACCAATCGGACTGCACAA 0.408 NaN 0 0 0 0.024334 0 23 33 DBP 1628 broad.mit.edu 37 19 49136903 49136903 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:49136903G>A uc002pjx.3 - 3 948 c.560C>T c.(559-561)TCT>TTT p.S187F DBP_uc002pjy.2_3'UTR|DBP_uc010elz.1_Missense_Mutation_p.S187F NM_001352 NP_001343 Q10586 DBP_HUMAN D site of albumin promoter (albumin D-box) 187 regulation of transcription from RNA polymerase II promoter|rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155) TGTGTCCCGAGAGGTCAGGCC 0.542 NaN 0 0 0 0.009535 0 29 81 GPR32 2854 broad.mit.edu 37 19 51274466 51274466 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:51274466G>C uc010ycf.1 + 1 609 c.609G>C c.(607-609)CAG>CAC p.Q203H NM_001506 NP_001497 O75388 GPR32_HUMAN G protein-coupled receptor 32 203 Extracellular (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) AGACTGCCCAGATTTGGATTG 0.552 NaN 0 0 0 0.01441 0 57 13 UBE2M 9040 broad.mit.edu 37 19 59069644 59069644 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:59069644C>T uc002qtl.3 - 1 700 c.105G>A c.(103-105)CAG>CAA p.Q35Q LOC100131691_uc002qtm.2_5'Flank NM_003969 NP_003960 P61081 UBC12_HUMAN ubiquitin-conjugating enzyme E2M 35 Interaction with UBA3. Q->A: Strongly impairs thioester intermediate formation. protein neddylation ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity ovary(1)|pancreas(1) 2 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) CCCTACCCTTCTGGATCCGCA 0.647 NaN 0 0 0 0.008871 0 17 58 ABCG8 64241 broad.mit.edu 37 2 44101118 44101118 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr2:44101118C>T uc002rtq.2 + 9 1494 c.1404C>T c.(1402-1404)ATC>ATT p.I468I ABCG8_uc010yoa.1_Silent_p.I467I NM_022437 NP_071882 Q9H221 ABCG8_HUMAN ATP-binding cassette sub-family G member 8 468 Helical; Name=2; (Potential).|ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity skin(3)|ovary(1) 4 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGGATGTCATCTCCAAATGTG 0.542 NaN 0 0 0 0.01441 0 62 97 SLC4A5 57835 broad.mit.edu 37 2 74462335 74462335 + Missense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr2:74462335C>A uc002sko.1 - 17 2328 c.2326G>T c.(2326-2328)GCC>TCC p.A776S SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.A776S|SLC4A5_uc010ffc.1_Missense_Mutation_p.A776S|SLC4A5_uc002skp.1_Intron|SLC4A5_uc002sks.1_Intron NM_021196 NP_067019 Q9BY07 S4A5_HUMAN sodium bicarbonate transporter 4 isoform a 776 Extracellular (Potential). apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 9 GCCACCAGGGCCCGGACCTGC 0.532 NaN 1 0 1.96292e-10 0.010504 2.08011e-10 20 10 FABP1 2168 broad.mit.edu 37 2 88425824 88425824 + Silent SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr2:88425824C>A uc002sst.1 - 2 153 c.111G>T c.(109-111)GGG>GGT p.G37G FABP1_uc002ssu.2_Silent_p.G37G NM_001443 NP_001434 P07148 FABPL_HUMAN fatty acid binding protein 1, liver 37 organ morphogenesis 0 TTTCCGACACCCCCTTGATAT 0.532 NaN 1 0 2.09629e-50 0.01441 2.36249e-50 104 197 DPP10 57628 broad.mit.edu 37 2 116066873 116066873 + Missense_Mutation SNP T T A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr2:116066873T>A uc002tla.1 + 2 576 c.119T>A c.(118-120)CTG>CAG p.L40Q DPP10_uc002tlb.1_5'UTR|DPP10_uc002tlc.1_Missense_Mutation_p.L36Q|DPP10_uc002tle.2_Missense_Mutation_p.L44Q|DPP10_uc002tlf.1_Missense_Mutation_p.L33Q NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 40 Mediates effects on KCND2.|Helical; Signal-anchor for type II membrane protein; (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 ATTGCTCTGCTGGTGATTTTA 0.408 NaN 0 0 0 0.021022 0 28 28 TTN 7273 broad.mit.edu 37 2 179397839 179397839 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr2:179397839C>G uc010zfg.1 - 307 96023 c.95799G>C c.(95797-95799)GAG>GAC p.E31933D uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E25628D|TTN_uc010zfi.1_Missense_Mutation_p.E25561D|TTN_uc010zfj.1_Missense_Mutation_p.E25436D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32860 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCTCAGAGCCTCTTTAGCTA 0.428 NaN 0 0 0 0.007835 0 37 60 TNS1 7145 broad.mit.edu 37 2 218699859 218699859 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr2:218699859C>T uc002vgt.2 - 19 3258 c.2860G>A c.(2860-2862)GAG>AAG p.E954K TNS1_uc002vgr.2_Missense_Mutation_p.E954K|TNS1_uc002vgs.2_Missense_Mutation_p.E954K|TNS1_uc010zjv.1_Missense_Mutation_p.E954K NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 954 cytoplasm|cytoskeleton|focal adhesion actin binding ovary(3)|breast(1) 4 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TCCATCTCCTCGAAGGCCTCC 0.572 NaN 0 0 0 0.013114 0 38 13 ALPP 250 broad.mit.edu 37 2 233245162 233245162 + Silent SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr2:233245162C>G uc002vsq.2 + 7 990 c.825C>G c.(823-825)CTC>CTG p.L275L ALPP_uc002vsr.2_5'Flank NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 275 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GCACTGAGCTCATGCAGGCTT 0.647 NaN 0 0 0 0.01441 0 65 117 PANK2 80025 broad.mit.edu 37 20 3870313 3870313 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr20:3870313C>G uc002wkc.2 + 1 572 c.566C>G c.(565-567)TCT>TGT p.S189C uc002wjz.1_5'Flank|uc002wka.1_5'Flank|PANK2_uc002wkb.2_Intron|PANK2_uc010gbd.1_RNA|PANK2_uc002wkd.2_RNA|PANK2_uc002wke.2_5'Flank|PANK2_uc002wkf.2_5'Flank NM_153638 NP_705902 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 isoform 1 preproprotein 189 cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding 0 CGACTGGGCTCTTACAGCGGC 0.751 NaN 0 0 0 0.00308 0 6 38 C20orf26 26074 broad.mit.edu 37 20 20051628 20051628 + Missense_Mutation SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr20:20051628G>T uc002wru.2 + 3 350 c.274G>T c.(274-276)GAC>TAC p.D92Y C20orf26_uc010gcw.1_Missense_Mutation_p.D46Y|C20orf26_uc010zse.1_Missense_Mutation_p.D92Y|C20orf26_uc010zsf.1_Missense_Mutation_p.D92Y NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 92 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) CCGGGAGCTCGACAGTGACAT 0.498 NaN 1 0 6.05902e-23 0.017118 6.64387e-23 28 136 KCNS1 3787 broad.mit.edu 37 20 43727083 43727083 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr20:43727083G>A uc002xnc.2 - 4 727 c.330C>T c.(328-330)TTC>TTT p.F110F KCNS1_uc002xnd.2_Silent_p.F110F NM_002251 NP_002242 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel 110 Cytoplasmic (Potential). voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding 0 Myeloproliferative disorder(115;0.0122) GGCTCAGGAAGAAGCCCGGGT 0.692 NaN 0 0 0 0.024245 0 11 11 ZNF335 63925 broad.mit.edu 37 20 44596540 44596540 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr20:44596540G>A uc002xqw.2 - 5 770 c.647C>T c.(646-648)CCG>CTG p.P216L ZNF335_uc010zxk.1_Missense_Mutation_p.P61L|ZNF335_uc002xqx.1_Missense_Mutation_p.P184L|ZNF335_uc002xqy.2_Missense_Mutation_p.P61L NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 216 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) CAGCTGCACCGGGGAGCTGGG 0.647 NaN 0 0 0 0.021022 0 36 121 PSMA7 5688 broad.mit.edu 37 20 60712444 60712444 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr20:60712444G>A uc002ybx.1 - 6 745 c.630C>T c.(628-630)GTC>GTT p.V210V PSMA7_uc002yby.1_RNA NM_002792 NP_002783 O14818 PSA7_HUMAN proteasome alpha 7 subunit 210 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex identical protein binding|threonine-type endopeptidase activity 0 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) CTCGCCTCATGACAGCAAGTT 0.463 NaN OREG0026105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 125 75 TPTE 7179 broad.mit.edu 37 21 10934109 10934109 + Missense_Mutation SNP A A C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr21:10934109A>C uc002yip.1 - 16 1236 c.868T>G c.(868-870)TAC>GAC p.Y290D TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.Y272D|TPTE_uc002yir.1_Missense_Mutation_p.Y252D|TPTE_uc010gkv.1_Missense_Mutation_p.Y152D NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 290 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTAGGATCGTAAGCTCTTTCA 0.303 NaN 0 0 0 0.024245 0 14 74 TMPRSS2 7113 broad.mit.edu 37 21 42860419 42860419 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr21:42860419G>C uc002yzj.2 - 5 481 c.347C>G c.(346-348)TCT>TGT p.S116C TMPRSS2_uc010gor.2_Missense_Mutation_p.S153C|TMPRSS2_uc010gos.1_Missense_Mutation_p.S116C NM_005656 NP_005647 O15393 TMPS2_HUMAN transmembrane protease, serine 2 isoform 2 116 Extracellular (Potential).|LDL-receptor class A. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24) prostate(2523)|central_nervous_system(1) 2524 Prostate(19;4.48e-07)|all_epithelial(19;0.031) CTCTATCCCAGAGTTGGAGCA 0.527 NaN T ERG|ETV1|ETV4|ETV5 prostate 0 0 0 0.021022 0 38 12 KLHL22 84861 broad.mit.edu 37 22 20812254 20812254 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr22:20812254G>C uc002zsl.1 - 5 1255 c.1146C>G c.(1144-1146)ATC>ATG p.I382M KLHL22_uc011ahr.1_Missense_Mutation_p.I239M|KLHL22_uc002zsm.1_Missense_Mutation_p.I382M NM_032775 NP_116164 Q53GT1 KLH22_HUMAN kelch-like 382 Kelch 2. cell division Cul3-RING ubiquitin ligase complex lung(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GCAGGGACTGGATCTGGAACC 0.602 NaN 0 0 0 0.013726 0 24 46 MED15 51586 broad.mit.edu 37 22 20909319 20909319 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr22:20909319G>A uc002zsp.2 + 5 415 c.335G>A c.(334-336)GGG>GAG p.G112E MED15_uc002zsn.1_Missense_Mutation_p.G31E|MED15_uc002zso.2_Intron|MED15_uc002zsq.2_Missense_Mutation_p.G112E|MED15_uc010gso.2_Missense_Mutation_p.G112E|MED15_uc002zsr.2_Missense_Mutation_p.G86E|MED15_uc011ahs.1_Missense_Mutation_p.G86E|MED15_uc011aht.1_Missense_Mutation_p.G86E|MED15_uc002zss.2_Missense_Mutation_p.G31E NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN mediator complex subunit 15 isoform a 112 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding skin(1) 1 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) TCTCTGGGCGGGATGGGTAGC 0.647 NaN 0 0 0 0.009096 0 3 58 DEPDC5 9681 broad.mit.edu 37 22 32275583 32275583 + Nonsense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr22:32275583G>A uc003als.2 + 37 3927 c.3785G>A c.(3784-3786)TGG>TAG p.W1262* DEPDC5_uc011als.1_Nonsense_Mutation_p.W1193*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.W1293*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.W1284*|DEPDC5_uc003alu.2_Nonsense_Mutation_p.W711*|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Nonsense_Mutation_p.W560*|DEPDC5_uc011alx.1_Nonsense_Mutation_p.W110*|DEPDC5_uc010gwk.2_Nonsense_Mutation_p.W288*|DEPDC5_uc011aly.1_Nonsense_Mutation_p.W110* NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 1262 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 CAGCGCAAGTGGTTTGAGGTG 0.612 NaN 0 0 0 0.01441 0 71 35 C3orf31 132001 broad.mit.edu 37 3 11851124 11851124 + Silent SNP C C T rs140106641 byFrequency TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:11851124C>T uc003bwh.2 - 6 983 c.741G>A c.(739-741)CAG>CAA p.Q247Q C3orf31_uc003bwj.2_Silent_p.Q247Q|C3orf31_uc003bwi.2_RNA|C3orf31_uc011auo.1_Silent_p.Q247Q NM_138807 NP_620162 Q96BW9 MMP37_HUMAN MMP37-like protein, mitochondrial precursor 247 protein import into mitochondrial matrix extrinsic to mitochondrial inner membrane 0 ATGTCATCAGCTGAGTGAACT 0.398 NaN 0 0 0 0.027356 0 18 24 ARPP21 10777 broad.mit.edu 37 3 35731587 35731587 + Missense_Mutation SNP T T G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:35731587T>G uc003cgb.2 + 8 764 c.500T>G c.(499-501)CTT>CGT p.L167R ARPP21_uc003cga.2_Missense_Mutation_p.L167R|ARPP21_uc011axy.1_Missense_Mutation_p.L167R|ARPP21_uc003cgf.2_Missense_Mutation_p.L3R NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 167 R3H. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 AGGATGATACTTTTGAAAATG 0.294 NaN 0 0 0 0.004482 0 9 21 CTNNB1 1499 broad.mit.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C G rs121913403 TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:41266113C>G uc010hia.1 + 4 266 c.110C>G c.(109-111)TCT>TGT p.S37C CTNNB1_uc003ckp.2_Missense_Mutation_p.S37C|CTNNB1_uc003ckq.2_Missense_Mutation_p.S37C|CTNNB1_uc003ckr.2_Missense_Mutation_p.S37C|CTNNB1_uc011azf.1_Missense_Mutation_p.S30C|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 37 S -> C (in PTR, hepatoblastoma and ovarian cancer).|SG -> W (in hepatocellular carcinoma).|S -> F (in PTR).|S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> Y (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S37F(147)|p.S37C(124)|p.A5_A80del(63)|p.S37A(59)|p.S37Y(23)|p.S37P(16)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32_S47del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.GIHS34?(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.V22_T102del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.G34_S37del(1)|p.I35_S37>T(1)|p.I35_K170del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.S37S(1)|p.S37T(1)|p.V22_S71>A(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.V22_Y64del(1)|p.M8_A80del(1)|p.S33_S37del(1)|p.E9_I140del(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.S37_G38>W(1)|p.A5_Q143>E(1)|p.I35_G38del(1)|p.H36_E53>L(1)|p.A5_Q72del(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.S37_A39>S(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.I35_T41del(1)|p.W25_A80del(1)|p.A20_Q72del(1)|p.A20_S111del(1) CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) GGAATCCATTCTGGTGCCACT 0.498 S37F(HUTU80_SMALL_INTESTINE)|S37C(SNU398_LIVER)|S37C(JHUEM2_ENDOMETRIUM) 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of 0 0 0 0.008871 0 19 20 MAP4 4134 broad.mit.edu 37 3 47913544 47913544 + Missense_Mutation SNP T T A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:47913544T>A uc003csb.2 - 11 2895 c.2369A>T c.(2368-2370)AAG>ATG p.K790M MAP4_uc003csc.3_Missense_Mutation_p.K790M|MAP4_uc003crw.2_5'Flank|MAP4_uc003crx.2_Missense_Mutation_p.K50M|MAP4_uc011bbe.1_Missense_Mutation_p.K541M|MAP4_uc003cry.2_Missense_Mutation_p.K525M|MAP4_uc003csa.3_Missense_Mutation_p.K525M|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_Missense_Mutation_p.K525M NM_002375 NP_002366 P27816 MAP4_HUMAN microtubule-associated protein 4 isoform 1 790 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(2)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) AGAAGCTGGCTTGGATGGTGA 0.562 NaN 0 0 0 0.01441 0 98 150 DUSP7 1849 broad.mit.edu 37 3 52090150 52090150 + Missense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:52090150C>A uc003dct.2 - 1 312 c.233G>T c.(232-234)CGG>CTG p.R78L DUSP7_uc010hma.2_Missense_Mutation_p.R78L NM_001947 NP_001938 Q16829 DUS7_HUMAN dual specificity phosphatase 7 78 Rhodanese. inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CTCGTGCGGCCGGCAGTCGAG 0.627 NaN 1 0 2.0095e-06 0.001984 2.06774e-06 4 15 POC1A 25886 broad.mit.edu 37 3 52179937 52179937 + Missense_Mutation SNP T T C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:52179937T>C uc003dcu.2 - 6 922 c.604A>G c.(604-606)ATT>GTT p.I202V POC1A_uc003dcv.2_Missense_Mutation_p.I164V|POC1A_uc003dcw.2_Missense_Mutation_p.I202V NM_015426 NP_056241 Q8NBT0 POC1A_HUMAN WD repeat domain 51A isoform 1 202 WD 5. centriole|microtubule basal body 0 GCAGCGGCAATGCACGTCCCA 0.592 NaN 0 0 0 0.015359 0 28 52 TLR9 54106 broad.mit.edu 37 3 52256622 52256622 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:52256622G>A uc003dda.1 - 2 2344 c.1710C>T c.(1708-1710)TTC>TTT p.F570F TLR9_uc003ddb.2_Silent_p.F667F NM_017442 NP_059138 Q9NR96 TLR9_HUMAN toll-like receptor 9 isoform A precursor 570 LRR 18.|Extracellular (Potential). defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity large_intestine(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) GGTGAGCCACGAAGCTGAAGT 0.642 NaN 0 0 0 0.01892 0 24 23 TMEM110 375346 broad.mit.edu 37 3 52883817 52883817 + Missense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:52883817C>A uc003dge.2 - 4 499 c.418G>T c.(418-420)GGC>TGC p.G140C TMEM110_uc003dgc.3_Missense_Mutation_p.G140C NM_198563 NP_940965 Q86TL2 TM110_HUMAN transmembrane protein 110 140 integral to membrane large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541) CCATATTCGCCGAAGCGCAGG 0.627 NaN 1 0 9.4991e-31 0.01441 1.0621e-30 58 14 HESX1 8820 broad.mit.edu 37 3 57232284 57232284 + Missense_Mutation SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:57232284G>T uc003din.3 - 4 833 c.499C>A c.(499-501)CAT>AAT p.H167N NM_003865 NP_003856 Q9UBX0 HESX1_HUMAN HESX homeobox 1 167 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126) GATTCTCTATGGGACCTTTTC 0.299 NaN 1 0 0.00024832 0.009096 0.000251867 3 21 FLNB 2317 broad.mit.edu 37 3 58062849 58062849 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:58062849C>T uc003djj.2 + 2 534 c.369C>T c.(367-369)ATC>ATT p.I123I FLNB_uc010hne.2_Silent_p.I123I|FLNB_uc003djk.2_Silent_p.I123I|FLNB_uc010hnf.2_Silent_p.I123I|FLNB_uc003djl.2_5'Flank|FLNB_uc003djm.2_5'Flank NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 123 Actin-binding. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) ACTACTCCATCTCCATGCCCG 0.552 NaN 0 0 0 0.007835 0 37 60 C3orf64 285203 broad.mit.edu 37 3 69031975 69031975 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:69031975C>T uc003dnl.2 - 15 1606 c.1201G>A c.(1201-1203)GAT>AAT p.D401N C3orf64_uc003dnj.2_Missense_Mutation_p.D80N|C3orf64_uc003dnk.2_Missense_Mutation_p.D317N|C3orf64_uc011bfw.1_RNA NM_173654 NP_775925 Q5NDL2 AER61_HUMAN AER61 glycosyltransferase 401 extracellular region transferase activity, transferring glycosyl groups ovary(1) 1 Lung NSC(201;0.126) BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216) TACTTGTAATCAACAATCTGG 0.388 NaN 0 0 0 0.00308 0 6 17 OR5AC2 81050 broad.mit.edu 37 3 97806241 97806241 + Silent SNP T T G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:97806241T>G uc011bgs.1 + 1 225 c.225T>G c.(223-225)ACT>ACG p.T75T NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, 75 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 ATGCTTGTACTTCAACCTCTA 0.428 NaN 0 0 0 0.01441 0 46 125 ALCAM 214 broad.mit.edu 37 3 105269058 105269058 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:105269058G>A uc003dvx.2 + 12 2002 c.1462G>A c.(1462-1464)GAA>AAA p.E488K ALCAM_uc003dvw.1_Missense_Mutation_p.E488K|ALCAM_uc003dvy.2_Missense_Mutation_p.E488K|ALCAM_uc010hpp.2_Missense_Mutation_p.E210K|ALCAM_uc003dvz.2_Missense_Mutation_p.E122K NM_001627 NP_001618 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 488 Extracellular (Potential).|Ig-like C2-type 3. cell adhesion|signal transduction integral to membrane receptor binding ovary(2)|breast(1) 3 TTGCACAGCAGAAAACCAACT 0.333 NaN 0 0 0 0.027356 0 25 19 ACPP 55 broad.mit.edu 37 3 132056364 132056364 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:132056364C>T uc010htp.2 + 5 611 c.521C>T c.(520-522)TCA>TTA p.S174L ACPP_uc003eon.3_Intron|ACPP_uc003eop.3_Missense_Mutation_p.S174L NM_001099 NP_001090 P15309 PPAP_HUMAN acid phosphatase, prostate short isoform 174 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity ovary(1) 1 ACTTTGAAATCAGAGGAATTC 0.398 NaN 0 0 0 0.01441 0 53 10 ETV5 2119 broad.mit.edu 37 3 185766491 185766491 + Silent SNP G G A rs151057501 TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:185766491G>A uc003fpz.2 - 13 1717 c.1470C>T c.(1468-1470)CCC>CCT p.P490P ETV5_uc003fpy.2_Silent_p.P532P NM_004454 NP_004445 P41161 ETV5_HUMAN ets variant gene 5 (ets-related molecule) 490 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(2)|skin(2)|breast(1) 5 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) GGAGGTAAGCGGGGCTGTCTT 0.597 NaN T TMPRSS2|SCL45A3 Prostate 0 0 0 0.023175 0 33 70 ATP13A3 79572 broad.mit.edu 37 3 194147857 194147857 + Silent SNP A A C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr3:194147857A>C uc003fty.3 - 28 3474 c.3072T>G c.(3070-3072)GGT>GGG p.G1024G ATP13A3_uc003ftx.3_5'Flank NM_024524 NP_078800 Q9H7F0 AT133_HUMAN ATPase type 13A3 1024 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(1) 1 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CCCAAAAAAAACCCAAAGATT 0.388 NaN 0 0 0 0.013114 0 40 10 PROM1 8842 broad.mit.edu 37 4 16077403 16077403 + Missense_Mutation SNP T T G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr4:16077403T>G uc003goo.2 - 1 339 c.127A>C c.(127-129)ACC>CCC p.T43P PROM1_uc003gor.2_Missense_Mutation_p.T43P|PROM1_uc003gos.2_Missense_Mutation_p.T43P|PROM1_uc003got.2_Missense_Mutation_p.T43P|PROM1_uc003gou.2_Missense_Mutation_p.T43P|PROM1_uc003gop.2_Missense_Mutation_p.T43P|PROM1_uc003goq.3_Missense_Mutation_p.T43P|PROM1_uc010iec.1_5'UTR NM_006017 NP_006008 O43490 PROM1_HUMAN prominin 1 isoform 1 43 Extracellular (Potential). camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1) 7 GAGTCTTGGGTCTCATAATTT 0.488 NaN 0 0 0 0.007413 0 17 0 PPARGC1A 10891 broad.mit.edu 37 4 23815314 23815314 + Silent SNP T T G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr4:23815314T>G uc003gqs.2 - 8 1912 c.1792A>C c.(1792-1794)AGA>CGA p.R598R PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 598 Arg/Ser-rich. androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) AAGGTTTACCTTGAAGAGGAT 0.398 NaN 0 0 0 0.028581 0 11 22 RBM47 54502 broad.mit.edu 37 4 40438583 40438583 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr4:40438583G>A uc003gvc.2 - 5 1915 c.1205C>T c.(1204-1206)TCT>TTT p.S402F RBM47_uc003gvd.2_Intron|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.S364F NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 402 nucleus nucleotide binding|RNA binding breast(3) 3 ACGACCAGCAGAATATCCCCC 0.507 NaN 0 0 0 0.01441 0 79 171 RBM47 54502 broad.mit.edu 37 4 40440104 40440104 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr4:40440104G>A uc003gvc.2 - 4 1517 c.807C>T c.(805-807)TTC>TTT p.F269F RBM47_uc003gvd.2_Silent_p.F269F|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Silent_p.F231F|RBM47_uc003gvg.1_Silent_p.F269F NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 269 RRM 3. nucleus nucleotide binding|RNA binding breast(3) 3 AGCCGGGGTTGAACTGGCCGA 0.592 NaN 0 0 0 0.009718 0 41 52 KIT 3815 broad.mit.edu 37 4 55564535 55564535 + Silent SNP A A T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr4:55564535A>T uc010igr.2 + 3 510 c.423A>T c.(421-423)CCA>CCT p.P141P KIT_uc010igs.2_Silent_p.P141P NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 141 Extracellular (Potential).|Ig-like C2-type 2. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TCACAGACCCAGAAGTGACCA 0.512 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors 0 0 0 0.024245 0 12 29 KIAA1211 57482 broad.mit.edu 37 4 57181275 57181275 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr4:57181275C>T uc003hbk.2 + 8 1998 c.1607C>T c.(1606-1608)CCC>CTC p.P536L KIAA1211_uc010iha.2_Missense_Mutation_p.P529L|KIAA1211_uc011bzz.1_Missense_Mutation_p.P446L|KIAA1211_uc003hbm.1_Missense_Mutation_p.P422L NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 536 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) ATGCCCCGGCCCTACACGTTC 0.642 NaN 0 0 0 0.008871 0 15 6 DSPP 1834 broad.mit.edu 37 4 88534106 88534106 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr4:88534106C>T uc003hqu.2 + 4 888 c.768C>T c.(766-768)GAC>GAT p.D256D NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein preproprotein 256 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent central_nervous_system(1) 1 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) AGGATGAAGACGAGGGTTCTG 0.507 NaN 0 0 0 0.024245 0 13 27 PRDM5 11107 broad.mit.edu 37 4 121616352 121616352 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr4:121616352C>T uc003idn.2 - 16 2057 c.1807G>A c.(1807-1809)GAA>AAA p.E603K PRDM5_uc003ido.2_Missense_Mutation_p.E572K|PRDM5_uc010ine.2_3'UTR NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN PR domain containing 5 603 C2H2-type 16. histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 AACTGGCATTCTGCCAGGGGA 0.428 NaN 0 0 0 0.024334 0 24 37 FSTL5 56884 broad.mit.edu 37 4 162421208 162421208 + Missense_Mutation SNP T T C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr4:162421208T>C uc003iqh.2 - 12 1854 c.1418A>G c.(1417-1419)CAG>CGG p.Q473R FSTL5_uc003iqi.2_Missense_Mutation_p.Q472R|FSTL5_uc010iqv.2_Missense_Mutation_p.Q463R NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 473 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) AATGTGCCTCTGAAATTCACA 0.338 NaN 0 0 0 0.00308 0 7 2 IRX2 153572 broad.mit.edu 37 5 2749625 2749625 + Missense_Mutation SNP T T C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:2749625T>C uc003jda.2 - 2 768 c.526A>G c.(526-528)AAC>GAC p.N176D C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.N176D NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 176 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) GTCATCTTGTTCTCCTTCTTG 0.597 NaN 0 0 0 0.025465 0 31 91 TRIO 7204 broad.mit.edu 37 5 14507245 14507245 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:14507245G>A uc003jff.2 + 56 8633 c.8627G>A c.(8626-8628)CGC>CAC p.R2876H TRIO_uc003jfg.2_RNA NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 2876 Protein kinase. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity p.R2876C(2) skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) GACCAGGGTCGCCTCCTGGAC 0.567 NaN 0 0 0 0.00499 0 15 53 FBXL7 23194 broad.mit.edu 37 5 15500819 15500819 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:15500819G>A uc003jfn.1 + 1 515 c.34G>A c.(34-36)GAG>AAG p.E12K NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 12 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 GTACGGCAGTGAGGGTGAGTG 0.692 NaN 0 0 0 0.01441 0 100 280 MYO10 4651 broad.mit.edu 37 5 16694540 16694540 + Missense_Mutation SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:16694540A>G uc003jft.3 - 27 4208 c.3740T>C c.(3739-3741)ATG>ACG p.M1247T MYO10_uc011cnc.1_Missense_Mutation_p.M126T|MYO10_uc011cnd.1_Missense_Mutation_p.M604T|MYO10_uc011cne.1_Missense_Mutation_p.M604T|MYO10_uc010itx.2_Missense_Mutation_p.M870T NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1247 PH 1. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 TTCAAAGTACATCAGCTTGGA 0.562 NaN 0 0 0 0.01441 0 58 134 CDC20B 166979 broad.mit.edu 37 5 54410097 54410097 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:54410097C>T uc003jpo.1 - 12 1684 c.1509G>A c.(1507-1509)CGG>CGA p.R503R CDC20B_uc003jpn.1_Silent_p.R499R|CDC20B_uc010ivu.1_Silent_p.R461R NM_152623 NP_689836 Q86Y33 CD20B_HUMAN CDC20 cell division cycle 20 homolog B isoform 503 WD 7. 0 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) cagaaaacacccgggtctggt 0.199 NaN 0 0 0 0.013726 0 35 74 CMYA5 202333 broad.mit.edu 37 5 79030171 79030171 + Missense_Mutation SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:79030171G>T uc003kgc.2 + 2 5655 c.5583G>T c.(5581-5583)TTG>TTT p.L1861F NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1861 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GAGAGAATTTGCCTTTGGAAC 0.343 NaN 1 0 2.17888e-05 0.006214 2.2259e-05 8 34 WDR36 134430 broad.mit.edu 37 5 110441021 110441021 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:110441021C>T uc003kpd.2 + 10 1340 c.1223C>T c.(1222-1224)TCC>TTC p.S408F WDR36_uc010jbu.2_RNA NM_139281 NP_644810 Q8NI36 WDR36_HUMAN WD repeat domain 36 408 WD 5. response to stimulus|rRNA processing|visual perception small-subunit processome ovary(1)|skin(1) 2 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) CAGTCATTTTCCACGGTACAT 0.348 NaN 0 0 0 0.001984 0 6 19 GPX3 2878 broad.mit.edu 37 5 150407000 150407000 + Nonsense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:150407000C>T uc011dcm.1 + 5 584 c.367C>T c.(367-369)CGA>TGA p.R123* GPX3_uc003ltc.2_RNA|GPX3_uc003ltd.2_RNA NM_002084 NP_002075 P22352 GPX3_HUMAN glutathione peroxidase 3 precursor 123 hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide extracellular space glutathione peroxidase activity|selenium binding|transcription factor binding 0 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glutathione(DB00143) CAGGTATGTCCGACCAGGTGG 0.493 NaN 0 0 0 0.024334 0 23 59 GPX3 2878 broad.mit.edu 37 5 150407039 150407039 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:150407039G>C uc011dcm.1 + 5 623 c.406G>C c.(406-408)GAG>CAG p.E136Q GPX3_uc003ltc.2_RNA|GPX3_uc003ltd.2_RNA NM_002084 NP_002075 P22352 GPX3_HUMAN glutathione peroxidase 3 precursor 136 hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide extracellular space glutathione peroxidase activity|selenium binding|transcription factor binding 0 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glutathione(DB00143) CCAGCTCTTTGAGAAAGGGGA 0.527 NaN 0 0 0 0.020292 0 14 64 NOP16 51491 broad.mit.edu 37 5 175811366 175811366 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr5:175811366G>A uc011dfl.1 - 5 403 c.403C>T c.(403-405)CGT>TGT p.R135C NOP16_uc003med.2_Intron|NOP16_uc003mee.2_Intron NM_016391 NP_057475 Q9Y3C1 NOP16_HUMAN NOP16 nucleolar protein homolog 135 nucleolus ovary(1)|central_nervous_system(1) 2 TTCTCATCACGGGCCATGGCC 0.458 NaN 0 0 0 0.01892 0 19 50 HIST1H1E 3008 broad.mit.edu 37 6 26156945 26156945 + Missense_Mutation SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:26156945G>T uc003ngq.2 + 1 387 c.327G>T c.(325-327)AAG>AAT p.K109N HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank NM_005321 NP_005312 P10412 H14_HUMAN histone cluster 1, H1e 109 H15. nucleosome assembly nucleosome|nucleus DNA binding|protein binding large_intestine(1)|ovary(1) 2 AACTCAACAAGAAGGCGGCCT 0.622 NaN 1 0 0.00010058 0.013537 0.000102382 13 28 PBX2 5089 broad.mit.edu 37 6 32157485 32157485 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:32157485C>T uc003oav.1 - 1 479 c.208G>A c.(208-210)GAG>AAG p.E70K PBX2_uc003oaw.2_Missense_Mutation_p.E70K NM_002586 NP_002577 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 70 transcription factor binding ovary(1) 1 GCCTGGGCCTCGTCCAGGCTC 0.647 NaN 0 0 0 0.00874 0 31 34 BRD2 6046 broad.mit.edu 37 6 32944130 32944130 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:32944130C>T uc003ocn.3 + 6 2415 c.714C>T c.(712-714)CTC>CTT p.L238L BRD2_uc003oco.2_RNA|BRD2_uc003ocq.3_Silent_p.L238L|BRD2_uc003ocp.3_Silent_p.L118L|BRD2_uc010juh.2_Silent_p.L238L NM_005104 NP_005095 P25440 BRD2_HUMAN bromodomain containing 2 238 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 CCACTGTCCTCAACATTCCCC 0.567 NaN 0 0 0 0.010771 0 37 72 GLP1R 2740 broad.mit.edu 37 6 39047367 39047367 + Silent SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:39047367C>A uc003ooj.3 + 11 1131 c.1071C>A c.(1069-1071)ATC>ATA p.I357I GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA NM_002062 NP_002053 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor precursor 357 Helical; Name=6; (Potential). activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled lung(3)|breast(1)|pancreas(1) 5 Exenatide(DB01276)|Glucagon recombinant(DB00040) TGACACTCATCCCCCTGCTGG 0.567 NaN 1 0 9.78306e-22 0.009535 1.06861e-21 24 55 PGC 5225 broad.mit.edu 37 6 41708252 41708252 + Silent SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:41708252G>C uc003ora.1 - 6 793 c.744C>G c.(742-744)CTC>CTG p.L248L NM_002630 NP_002621 P20142 PEPC_HUMAN progastricsin (pepsinogen C) precursor 248 digestion|proteolysis extracellular space aspartic-type endopeptidase activity 0 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) TCTGCCAGTAGAGTTCCTGGG 0.617 NaN 0 0 0 0.01441 0 64 87 CCND3 896 broad.mit.edu 37 6 42016405 42016405 + Translation_Start_Site SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:42016405C>T uc003orp.2 - 1 206 c.-211G>A c.(-213--209)GGGTG>GGATG CCND3_uc011duk.1_Translation_Start_Site|CCND3_uc011dum.1_Translation_Start_Site|TAF8_uc003orr.2_5'Flank|TAF8_uc003ors.2_5'Flank|TAF8_uc003ort.2_5'Flank|TAF8_uc003oru.1_5'Flank|TAF8_uc003orv.1_5'Flank|TAF8_uc011dun.1_5'Flank NM_001136017 NP_001129489 P30281 CCND3_HUMAN cyclin D3 isoform 1 cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding 0 Colorectal(47;0.121) Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCAGTCTCCACCCCTGCAGTG 0.672 NaN T IGH@ MM 0 0 0 0.006122 0 14 22 ABCC10 89845 broad.mit.edu 37 6 43400684 43400684 + Silent SNP C C T rs145760020 TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:43400684C>T uc003ouy.1 + 3 1181 c.966C>T c.(964-966)CAC>CAT p.H322H ABCC10_uc003ouz.1_Silent_p.H279H|ABCC10_uc010jyo.1_5'Flank NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 322 ABC transmembrane type-1 1.|Helical; (Potential). integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CACTAAGCCACGGCCTGCTCT 0.587 NaN 0 0 0 0.025465 0 34 57 SLC25A27 9481 broad.mit.edu 37 6 46623750 46623750 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:46623750C>T uc003oyh.2 + 2 528 c.277C>T c.(277-279)CCC>TCC p.P93S SLC25A27_uc011dwb.1_Missense_Mutation_p.P93S|SLC25A27_uc003oyg.2_Missense_Mutation_p.P93S|SLC25A27_uc011dwc.1_5'UTR|SLC25A27_uc003oyi.2_5'Flank NM_004277 NP_004268 O95847 UCP4_HUMAN solute carrier family 25, member 27 93 Solcar 1.|Helical; Name=2; (Potential). generation of precursor metabolites and energy|transport integral to membrane|mitochondrial inner membrane 0 Lung(136;0.192) AGGAGTGACACCCGCCATTTA 0.453 NaN 0 0 0 0.013114 0 35 72 GSTA5 221357 broad.mit.edu 37 6 52698951 52698951 + Silent SNP A A C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:52698951A>C uc003pba.1 - 5 472 c.402T>G c.(400-402)CCT>CCG p.P134P NM_153699 NP_714543 Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 134 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.0912) Glutathione(DB00143) TTTCAAAGGCAGGGAAGTAGC 0.423 NaN 0 0 0 0.01441 0 52 92 MDN1 23195 broad.mit.edu 37 6 90448114 90448114 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:90448114C>T uc003pnn.1 - 33 4770 c.4654G>A c.(4654-4656)GAA>AAA p.E1552K NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 1552 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) ATTAAATCTTCACGGCTTGTG 0.393 NaN 0 0 0 0.024334 0 25 37 CLVS2 134829 broad.mit.edu 37 6 123319295 123319295 + Missense_Mutation SNP A A T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:123319295A>T uc003pzi.1 + 2 1242 c.373A>T c.(373-375)AAT>TAT p.N125Y NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 125 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 TTTTGCTGCCAATTGGGATCA 0.483 NaN 0 0 0 0.010504 0 19 31 PHACTR2 9749 broad.mit.edu 37 6 143929448 143929448 + Missense_Mutation SNP T T C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:143929448T>C uc003qjq.3 + 1 132 c.2T>C c.(1-3)ATG>ACG p.M1T PHACTR2_uc010khh.2_Missense_Mutation_p.M1T NM_014721 NP_055536 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 isoform 3 1 actin binding|protein phosphatase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) TCCTGAGACATGGACAACGCC 0.542 NaN 0 0 0 0.016522 0 18 31 GRM1 2911 broad.mit.edu 37 6 146720833 146720833 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:146720833C>T uc010khw.1 + 8 3128 c.2658C>T c.(2656-2658)GCC>GCT p.A886A GRM1_uc010khv.1_Silent_p.A886A|GRM1_uc003qll.2_Silent_p.A886A|GRM1_uc011edz.1_Silent_p.A886A|GRM1_uc011eea.1_Silent_p.A886A NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 886 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CAGGGAATGCCAAGTGAGTTA 0.343 NaN 0 0 0 0.021553 0 6 7 SYNE1 23345 broad.mit.edu 37 6 152674462 152674462 + Missense_Mutation SNP T T A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:152674462T>A uc010kiw.2 - 69 11791 c.11189A>T c.(11188-11190)AAT>ATT p.N3730I SYNE1_uc003qot.3_Missense_Mutation_p.N3715I|SYNE1_uc003qou.3_Missense_Mutation_p.N3730I|SYNE1_uc010kja.1_Missense_Mutation_p.N435I NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3730 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGTAGCCACATTCTTGAAGTT 0.398 NaN HNSCC(10;0.0054) 0 0 0 0.014758 0 5 103 PNLDC1 154197 broad.mit.edu 37 6 160225085 160225085 + Nonsense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:160225085C>T uc003qsx.1 + 5 475 c.304C>T c.(304-306)CAG>TAG p.Q102* PNLDC1_uc003qsy.1_Nonsense_Mutation_p.Q113* NM_173516 NP_775787 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain 102 Cytoplasmic (Potential). integral to membrane|nucleus nucleic acid binding 0 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TTCCAGTGTTCAGTTTTTGAA 0.343 NaN 0 0 0 0.01441 0 53 107 CCR6 1235 broad.mit.edu 37 6 167550264 167550264 + Silent SNP T T G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr6:167550264T>G uc003qvl.2 + 13 3022 c.546T>G c.(544-546)ACT>ACG p.T182T CCR6_uc010kkm.2_Silent_p.T182T|CCR6_uc003qvn.3_Silent_p.T182T|CCR6_uc003qvm.3_Silent_p.T182T NM_031409 NP_113597 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 182 Extracellular (Potential). T -> S (in Ref. 4; AAB06949). cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity ovary(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) CCAGCTCAACTTTTGTCTTCA 0.517 NaN 0 0 0 0.021022 0 35 40 SKAP2 8935 broad.mit.edu 37 7 26709771 26709771 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr7:26709771C>T uc003syc.2 - 12 1321 c.1028G>A c.(1027-1029)GGA>GAA p.G343E SKAP2_uc011jzi.1_Missense_Mutation_p.G171E|SKAP2_uc011jzj.1_Missense_Mutation_p.G328E NM_003930 NP_003921 O75563 SKAP2_HUMAN src kinase associated phosphoprotein 2 343 SH3. B cell activation|cell junction assembly|protein complex assembly|signal transduction cytosol|plasma membrane SH3/SH2 adaptor activity pancreas(1) 1 GCCAATGGCTCCCTTCATTTC 0.363 NaN 0 0 0 0.01892 0 19 28 HOXA10 3206 broad.mit.edu 37 7 27213894 27213894 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr7:27213894G>A uc011jzm.1 - 1 62 c.32C>T c.(31-33)TCG>TTG p.S11L HOXA10_uc003syw.3_Intron NM_018951 NP_061824 P31260 HXA10_HUMAN homeobox A10 isoform a 11 spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 ATAATTTGGCGAAGGGAGCAG 0.557 NaN 0 0 0 0.010771 0 46 86 SEMA3A 10371 broad.mit.edu 37 7 83636800 83636800 + Nonsense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr7:83636800C>A uc003uhz.2 - 10 1324 c.1009G>T c.(1009-1011)GGA>TGA p.G337* NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 337 Sema. axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 ACGGCTGATCCCTTGAAAATG 0.388 NaN 1 0 4.7546e-09 0.028581 4.98268e-09 15 19 ZAN 7455 broad.mit.edu 37 7 100364700 100364700 + Missense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr7:100364700C>A uc003uwj.2 + 25 4845 c.4680C>A c.(4678-4680)TTC>TTA p.F1560L ZAN_uc003uwk.2_Missense_Mutation_p.F1560L|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.F137L NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 1560 Extracellular (Potential).|VWFD 2. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TGCACCACTTCATGGGCACCT 0.607 NaN 1 0 4.25531e-23 0.01441 4.68414e-23 46 86 MOGAT3 346606 broad.mit.edu 37 7 100841559 100841559 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr7:100841559G>A uc003uyc.2 - 5 748 c.581C>T c.(580-582)GCG>GTG p.A194V MOGAT3_uc010lhr.2_Missense_Mutation_p.A194V NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 194 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity ovary(2) 2 Lung NSC(181;0.168)|all_lung(186;0.215) GGCCTCGTGCGCACCCCCCAC 0.677 NaN 0 0 0 0.01441 0 70 23 PAX4 5078 broad.mit.edu 37 7 127253582 127253582 + Missense_Mutation SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr7:127253582G>T uc010lld.1 - 5 749 c.543C>A c.(541-543)TTC>TTA p.F181L PAX4_uc003vmf.2_Missense_Mutation_p.F179L|PAX4_uc003vmg.1_Missense_Mutation_p.F181L|PAX4_uc003vmh.2_Missense_Mutation_p.F179L NM_006193 NP_006184 O43316 PAX4_HUMAN paired box 4 189 Homeobox. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GCCCACGCTGGAACTCTGCGG 0.587 NaN 1 0 4.96729e-08 0.008871 5.12986e-08 20 57 CNTNAP2 26047 broad.mit.edu 37 7 147600709 147600709 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr7:147600709C>T uc003weu.1 + 14 2667 c.2151C>T c.(2149-2151)TAC>TAT p.Y717Y NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 717 Extracellular (Potential).|Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AGCACTACTACTGGGGAGGCT 0.512 NaN HNSCC(39;0.1) 0 0 0 0.004482 0 6 21 ARHGEF10 9639 broad.mit.edu 37 8 1841803 1841803 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:1841803G>A uc003wpr.2 + 12 1429 c.1251G>A c.(1249-1251)AGG>AGA p.R417R ARHGEF10_uc003wpq.1_Silent_p.R442R|ARHGEF10_uc003wps.2_Silent_p.R379R|ARHGEF10_uc003wpt.2_Silent_p.R293R|ARHGEF10_uc003wpv.2_Silent_p.R150R|ARHGEF10_uc010lre.2_Silent_p.R97R NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 442 DH. centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) CTCTTAAGAGGATTTTGGAGG 0.313 NaN 0 0 0 0.024245 0 13 42 LPL 4023 broad.mit.edu 37 8 19811640 19811640 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:19811640C>T uc003wzk.3 + 5 921 c.551C>T c.(550-552)CCA>CTA p.P184L NM_000237 NP_000228 P06858 LIPL_HUMAN lipoprotein lipase precursor 184 P -> R (in LPL deficiency; Nijmegen; loss of activity). fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) GGCCTCGATCCAGCTGGACCT 0.453 NaN 0 0 0 0.008871 0 19 55 CDCA2 157313 broad.mit.edu 37 8 25364307 25364307 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:25364307G>A uc003xep.1 + 15 2604 c.2125G>A c.(2125-2127)GAC>AAC p.D709N PPP2R2A_uc003xek.2_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.D694N|CDCA2_uc003xer.1_Missense_Mutation_p.D372N NM_152562 NP_689775 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 709 cell division|mitosis cytoplasm|nucleus 0 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) AGCTGGAACTGACAGTCCTGT 0.373 NaN 0 0 0 0.00308 0 6 12 DUSP26 78986 broad.mit.edu 37 8 33451114 33451114 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:33451114C>T uc003xjp.2 - 3 706 c.373G>A c.(373-375)GAC>AAC p.D125N DUSP26_uc003xjq.2_Missense_Mutation_p.D125N NM_024025 NP_076930 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 125 Tyrosine-protein phosphatase. Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) ATGCTCATGTCAAAGGCTGGC 0.642 NaN 0 0 0 0.007835 0 32 94 RP1 6101 broad.mit.edu 37 8 55539332 55539332 + Missense_Mutation SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:55539332A>G uc003xsd.1 + 4 3038 c.2890A>G c.(2890-2892)ATA>GTA p.I964V RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 964 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTCTGGAAAAATAAGTAATTT 0.328 NaN 0 0 0 0.007291 0 29 22 PLAG1 5324 broad.mit.edu 37 8 57079893 57079893 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:57079893G>A uc003xsq.3 - 3 863 c.412C>T c.(412-414)CGT>TGT p.R138C PLAG1_uc003xsr.3_Missense_Mutation_p.R138C|PLAG1_uc010lyi.2_Missense_Mutation_p.R138C|PLAG1_uc010lyj.2_Missense_Mutation_p.R56C NM_001114635 NP_001108107 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 isoform b 138 Decreased nuclear import with localization in the nucleus but also in the cytoplasm.|C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3) salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1) 129 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) GCCAAGTGACGTTTAAATCCA 0.448 NaN T TCEA1|LIFR|CTNNB1|CHCHD7 salivary adenoma 0 0 0 0.010729 0 9 30 ZFHX4 79776 broad.mit.edu 37 8 77764201 77764201 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:77764201C>G uc003yav.2 + 10 5296 c.4909C>G c.(4909-4911)CAA>GAA p.Q1637E ZFHX4_uc003yau.1_Missense_Mutation_p.Q1682E|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q1637E NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1637 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AATCTCTGCTCAACCTGCACA 0.403 NaN HNSCC(33;0.089) 0 0 0 0.008291 0 11 43 PLEKHF2 79666 broad.mit.edu 37 8 96166422 96166422 + Silent SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:96166422C>G uc003yhn.1 + 2 397 c.150C>G c.(148-150)CCC>CCG p.P50P NM_024613 NP_078889 Q9H8W4 PKHF2_HUMAN phafin 2 50 PH. transport vesicle metal ion binding|protein binding ovary(2) 2 Breast(36;3.18e-05) GGAAAAAGCCCAAAGCAAGGC 0.358 NaN 0 0 0 0.007413 0 17 63 GDF6 392255 broad.mit.edu 37 8 97157377 97157377 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:97157377C>T uc003yhp.2 - 2 882 c.782G>A c.(781-783)CGG>CAG p.R261Q NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN growth differentiation factor 6 precursor 261 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(1)|breast(1)|pancreas(1) 3 Breast(36;2.67e-05) GCCCAGACTCCGCAGGTCCGG 0.736 NaN 0 0 0 0.009096 0 3 16 GDF6 392255 broad.mit.edu 37 8 97172829 97172829 + Missense_Mutation SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:97172829G>C uc003yhp.2 - 1 192 c.92C>G c.(91-93)TCC>TGC p.S31C NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN growth differentiation factor 6 precursor 31 Poly-Ser. activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(1)|breast(1)|pancreas(1) 3 Breast(36;2.67e-05) GGACGACGAGGAGGATGAGAT 0.647 NaN 0 0 0 0.01441 0 49 155 SYBU 55638 broad.mit.edu 37 8 110588178 110588178 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:110588178C>G uc003ynj.3 - 7 1112 c.949G>C c.(949-951)GAG>CAG p.E317Q SYBU_uc003yni.3_Missense_Mutation_p.E314Q|SYBU_uc003ynk.3_Missense_Mutation_p.E198Q|SYBU_uc010mco.2_Missense_Mutation_p.E316Q|SYBU_uc003ynl.3_Missense_Mutation_p.E316Q|SYBU_uc010mcp.2_Missense_Mutation_p.E317Q|SYBU_uc010mcq.2_Missense_Mutation_p.E317Q|SYBU_uc003yno.3_Missense_Mutation_p.E198Q|SYBU_uc010mcr.2_Missense_Mutation_p.E317Q|SYBU_uc003ynm.3_Missense_Mutation_p.E316Q|SYBU_uc003ynn.3_Missense_Mutation_p.E316Q|SYBU_uc010mcs.2_Missense_Mutation_p.E198Q|SYBU_uc010mct.2_Missense_Mutation_p.E317Q|SYBU_uc010mcu.2_Missense_Mutation_p.E316Q|SYBU_uc003ynp.3_Missense_Mutation_p.E249Q|SYBU_uc010mcv.2_Missense_Mutation_p.E317Q|SYBU_uc003ynh.3_Missense_Mutation_p.E111Q|SYBU_uc011lhw.1_Missense_Mutation_p.E187Q NM_001099754 NP_001093224 Q9NX95 SYBU_HUMAN Golgi-localized syntaphilin-related protein 317 Sufficient for interaction with STX1A.|Potential.|Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane ovary(1) 1 CGGTGACACTCCTCCTCAATC 0.502 NaN 0 0 0 0.024334 0 26 73 CSMD3 114788 broad.mit.edu 37 8 113318249 113318249 + Silent SNP G G T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:113318249G>T uc003ynu.2 - 51 8217 c.8058C>A c.(8056-8058)ACC>ACA p.T2686T CSMD3_uc003yns.2_Silent_p.T1888T|CSMD3_uc003ynt.2_Silent_p.T2646T|CSMD3_uc011lhx.1_Silent_p.T2582T NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2686 Extracellular (Potential).|Sushi 15. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CACAGCGAGGGGTCTTGTTAT 0.343 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 1 0 1.08114e-33 0.01441 1.21361e-33 38 109 PLEC 5339 broad.mit.edu 37 8 145049425 145049425 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr8:145049425C>T uc003zaj.2 - 2 162 c.113G>A c.(112-114)CGG>CAG p.R38Q PLEC_uc003zah.2_5'Flank NM_000445 NP_000436 Q15149 PLEC_HUMAN plectin isoform 1c 141 Globular 1. 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 GCGCCGGCTCCGCTGCGTTTT 0.667 NaN OREG0019050 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01441 0 84 73 PTPRD 5789 broad.mit.edu 37 9 8460469 8460469 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:8460469G>A uc003zkk.2 - 32 4528 c.3817C>T c.(3817-3819)CCT>TCT p.P1273S PTPRD_uc003zkp.2_Missense_Mutation_p.P862S|PTPRD_uc003zkq.2_Missense_Mutation_p.P862S|PTPRD_uc003zkr.2_Missense_Mutation_p.P857S|PTPRD_uc003zks.2_Missense_Mutation_p.P852S|PTPRD_uc003zkl.2_Missense_Mutation_p.P1264S|PTPRD_uc003zkm.2_Missense_Mutation_p.P1260S|PTPRD_uc003zkn.2_Missense_Mutation_p.P862S|PTPRD_uc003zko.2_Missense_Mutation_p.P859S NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1273 Helical; (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GCAAGGACAGGACCTACAACC 0.463 NaN TSP Lung(15;0.13) 0 0 0 0.009718 0 39 42 PTPRD 5789 broad.mit.edu 37 9 8465602 8465602 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:8465602G>A uc003zkk.2 - 31 4289 c.3578C>T c.(3577-3579)GCC>GTC p.A1193V PTPRD_uc003zkp.2_Missense_Mutation_p.A782V|PTPRD_uc003zkq.2_Missense_Mutation_p.A782V|PTPRD_uc003zkr.2_Missense_Mutation_p.A777V|PTPRD_uc003zks.2_Missense_Mutation_p.A772V|PTPRD_uc003zkl.2_Missense_Mutation_p.A1184V|PTPRD_uc003zkm.2_Missense_Mutation_p.A1180V|PTPRD_uc003zkn.2_Missense_Mutation_p.A782V|PTPRD_uc003zko.2_Missense_Mutation_p.A779V NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1193 Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AAAGTGAGCGGCAATATATGG 0.428 NaN TSP Lung(15;0.13) 0 0 0 0.009535 0 28 79 FREM1 158326 broad.mit.edu 37 9 14859231 14859231 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:14859231C>T uc003zlm.2 - 4 1171 c.581G>A c.(580-582)CGA>CAA p.R194Q FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 194 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) TTCTTCTGGTCGAGGCTCCCC 0.502 NaN 0 0 0 0.013726 0 31 41 MLLT3 4300 broad.mit.edu 37 9 20414153 20414153 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:20414153C>G uc003zoe.2 - 5 950 c.691G>C c.(691-693)GAA>CAA p.E231Q MLLT3_uc011lne.1_Missense_Mutation_p.E199Q|MLLT3_uc011lnf.1_Missense_Mutation_p.E228Q|MLLT3_uc003zof.2_Missense_Mutation_p.E32Q NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 231 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) TTAGAGGATTCTTTGGAAGAT 0.378 NaN T MLL ALL 0 0 0 0.01441 0 40 129 APTX 54840 broad.mit.edu 37 9 32986023 32986023 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:32986023G>A uc003zrm.2 - 4 686 c.489C>T c.(487-489)TCC>TCT p.S163S APTX_uc010mjm.2_RNA|APTX_uc003zrj.2_Silent_p.S75S|APTX_uc011lns.1_5'UTR|APTX_uc003zrl.2_5'UTR|APTX_uc003zrn.2_Silent_p.S75S|APTX_uc003zro.2_Silent_p.S163S|APTX_uc003zrp.2_Silent_p.S75S|APTX_uc003zrq.2_Silent_p.S75S|APTX_uc003zrr.2_Silent_p.S109S|APTX_uc003zrs.2_Silent_p.S163S|APTX_uc003zrt.2_Silent_p.S75S|APTX_uc003zru.2_Silent_p.S109S|APTX_uc003zrv.2_Silent_p.S177S|APTX_uc003zrw.2_Silent_p.S91S|APTX_uc003zrx.2_Silent_p.S163S|APTX_uc003zry.2_Silent_p.S163S|APTX_uc003zrz.2_5'UTR|APTX_uc003zsa.1_Silent_p.S109S|APTX_uc003zsb.1_RNA|APTX_uc003zsc.1_RNA NM_175072 NP_778242 Q7Z2E3 APTX_HUMAN aprataxin isoform c 177 cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair chromatin|nucleolus|nucleoplasm chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0302) GBM - Glioblastoma multiforme(74;0.105) AGTGGCCCAGGGATTCCTaaa 0.299 NaN Direct_reversal_of_damage|Editing_and_processing_nucleases 0 0 0 0.008291 0 10 44 FAM75A6 389730 broad.mit.edu 37 9 43626815 43626815 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:43626815G>A uc011lrb.1 - 4 1901 c.1872C>T c.(1870-1872)GAC>GAT p.D624D NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 624 integral to membrane 0 CTGGTGATTCGTCCCGAAGCT 0.547 NaN 0 0 0 0.006214 0 5 23 OR1L3 26735 broad.mit.edu 37 9 125438220 125438220 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:125438220G>A uc011lzb.1 + 1 812 c.812G>A c.(811-813)CGA>CAA p.R271Q NM_001005234 NP_001005234 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, 271 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GTCAAGGACCGAATAGCAACA 0.408 NaN 0 0 0 0.006214 0 8 21 RPL12 6136 broad.mit.edu 37 9 130210620 130210620 + Silent SNP G G C TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:130210620G>C uc004bqy.1 - 5 463 c.375C>G c.(373-375)CTC>CTG p.L125L RPL12_uc004bqx.1_RNA|RPL12_uc004bqz.1_Silent_p.L92L NM_000976 NP_000967 P30050 RL12_HUMAN ribosomal protein L12 125 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome 0 TCTTACCAGAGAGTTCTCTGG 0.443 NaN 0 0 0 0.01441 0 80 143 STXBP1 6812 broad.mit.edu 37 9 130422312 130422312 + Missense_Mutation SNP G G A rs34830702 byFrequency TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:130422312G>A uc004brl.2 + 5 447 c.250G>A c.(250-252)GTC>ATC p.V84I STXBP1_uc004brk.2_Missense_Mutation_p.V84I NM_001032221 NP_001027392 P61764 STXB1_HUMAN syntaxin binding protein 1 isoform b 84 V -> D (in EIEE4; may alter protein structure). axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex identical protein binding|syntaxin-1 binding|syntaxin-2 binding skin(1) 1 TCCACAGTCCGTCCACTCTCT 0.507 NaN 0 0 0 0.01892 0 20 51 SPTAN1 6709 broad.mit.edu 37 9 131388155 131388155 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:131388155C>T uc004bvl.3 + 47 6275 c.6162C>T c.(6160-6162)ATC>ATT p.I2054I SPTAN1_uc004bvm.3_Silent_p.I2059I|SPTAN1_uc004bvn.3_Silent_p.I2034I|SPTAN1_uc010mye.1_5'Flank|SPTAN1_uc010myf.1_5'Flank NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 2054 Spectrin 21. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 CCAAGGCCATCGAGGCCCGGC 0.602 NaN 0 0 0 0.01441 0 73 132 COL5A1 1289 broad.mit.edu 37 9 137709646 137709646 + Missense_Mutation SNP C C A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:137709646C>A uc004cfe.2 + 54 4581 c.4199C>A c.(4198-4200)CCC>CAC p.P1400H NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1400 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCCGCAGGCCCCGAAGGCAGA 0.662 NaN 1 0 2.80697e-09 0.010729 2.95252e-09 9 5 COL5A1 1289 broad.mit.edu 37 9 137717708 137717708 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:137717708C>T uc004cfe.2 + 63 5407 c.5025C>T c.(5023-5025)GCC>GCT p.A1675A uc004cff.2_Intron NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1675 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) ACTTCACAGCCGGGGGGTCGA 0.592 NaN 0 0 0 0.015359 0 29 61 COL5A1 1289 broad.mit.edu 37 9 137734025 137734025 + Missense_Mutation SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:137734025C>T uc004cfe.2 + 66 5775 c.5393C>T c.(5392-5394)ACG>ATG p.T1798M uc004cff.2_Intron NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1798 Fibrillar collagen NC1. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TACCAGAAGACGGTTCTGGAG 0.522 NaN 0 0 0 0.013537 0 10 59 EGFL7 51162 broad.mit.edu 37 9 139565433 139565433 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr9:139565433G>A uc004cid.2 + 8 1514 c.603G>A c.(601-603)CAG>CAA p.Q201Q EGFL7_uc004cif.2_Silent_p.Q201Q|EGFL7_uc004cig.2_RNA|EGFL7_uc010nbp.2_Silent_p.Q201Q|EGFL7_uc004cie.2_Silent_p.Q201Q|EGFL7_uc004cih.2_Silent_p.Q201Q NM_201446 NP_958854 Q9UHF1 EGFL7_HUMAN EGF-like-domain, multiple 7 201 Potential. angiogenesis|vasculogenesis calcium ion binding ovary(1) 1 all_cancers(76;0.109) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) AAGAAGTGCAGAGGCTGCAGT 0.697 NaN 0 0 0 0.014758 0 4 5 HUWE1 10075 broad.mit.edu 37 X 53672365 53672365 + Silent SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chrX:53672365G>A uc004dsp.2 - 7 804 c.402C>T c.(400-402)GTC>GTT p.V134V NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 134 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GGAGATTGAGGACTGCCAGCA 0.458 NaN 0 0 0 0.008871 0 17 8 TAZ 6901 broad.mit.edu 37 X 153648555 153648555 + Missense_Mutation SNP G G A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chrX:153648555G>A uc004fkx.2 + 9 955 c.651G>A c.(649-651)ATG>ATA p.M217I TAZ_uc004fky.2_Missense_Mutation_p.M203I|TAZ_uc004fkz.2_RNA|TAZ_uc004fla.2_Missense_Mutation_p.M187I|TAZ_uc004flb.2_Missense_Mutation_p.M173I|TAZ_uc010nuy.2_Missense_Mutation_p.M221I|TAZ_uc004flc.3_Missense_Mutation_p.M187I NM_000116 NP_000107 Q16635 TAZ_HUMAN tafazzin isoform 1 217 cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development integral to membrane|mitochondrion 1-acylglycerophosphocholine O-acyltransferase activity 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTGCAGGAATGAATGACGTCC 0.637 NaN 0 0 0 0.01441 0 186 52 CD1D 912 broad.mit.edu 37 1 158151257 158151257 + Frame_Shift_Del DEL T T - TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr1:158151257delT uc001frr.2 + 3 573 c.74delT c.(73-75)CTTfs p.L25fs CD1D_uc009wsr.1_Frame_Shift_Del_p.L25fs|CD1D_uc009wss.2_Frame_Shift_Del_p.L25fs|CD1D_uc009wst.1_Intron NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 25 Extracellular (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) CCGCAAAGGCTTTTCCCCCTC 0.592 NaN NaN NaN NaN NaN NaN 7 868 --- --- LRFN4 78999 broad.mit.edu 37 11 66627383 66627383 + Frame_Shift_Del DEL G G - TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr11:66627383delG uc001ojr.2 + 2 1965 c.1625delG c.(1624-1626)CGGfs p.R542fs PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron NM_024036 NP_076941 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III 542 Cytoplasmic (Potential). integral to membrane 0 GTTCGGGGCCGGGGGGCCGGA 0.657 NaN NaN NaN NaN NaN NaN 21 58 --- --- PLEKHG6 55200 broad.mit.edu 37 12 6436757 6436759 + In_Frame_Del DEL GAA GAA - TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:6436757_6436759delGAA uc001qnr.2 + 15 2156_2158 c.2008_2010delGAA c.(2008-2010)GAAdel p.E671del PLEKHG6_uc010sew.1_In_Frame_Del_p.E671del|PLEKHG6_uc010sex.1_In_Frame_Del_p.E639del NM_018173 NP_060643 Q3KR16 PKHG6_HUMAN pleckstrin homology domain-containing family G 671 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity large_intestine(1)|skin(1) 2 CTGGTCTGAGGAAGAAGATGGGG 0.631 NaN NaN NaN NaN NaN NaN 5 6 --- --- CDKN1B 1027 broad.mit.edu 37 12 12871015 12871016 + Frame_Shift_Ins INS - - TTCT TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:12871015_12871016insTTCT uc001rat.2 + 1 714_715 c.242_243insTTCT c.(241-243)AAGfs p.K81fs NM_004064 NP_004055 P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B 81 autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity ovary(1)|lung(1) 2 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) GAGGTGGAGAAGGGCAGCTTGC 0.614 NaN Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4 NaN NaN NaN NaN NaN 72 103 --- --- IL31 386653 broad.mit.edu 37 12 122658748 122658748 + Splice_Site DEL G G - TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr12:122658748delG uc001ubv.2 - 1 1 c.-26_splice c.e1-1 LRRC43_uc001ubw.3_Intron|LRRC43_uc009zxl.1_Intron NM_001014336 NP_001014358 Q6EBC2 IL31_HUMAN interleukin 31 precursor extracellular space cytokine activity central_nervous_system(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;6.93e-05)|Breast(359;0.0544) OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223) CAGCTTCAGTGGGGGCTTCTG 0.572 NaN NaN NaN NaN NaN NaN 33 48 --- --- ARHGEF15 22899 broad.mit.edu 37 17 8222137 8222138 + Frame_Shift_Ins INS - - G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:8222137_8222138insG uc002glc.2 + 12 2063_2064 c.1942_1943insG c.(1942-1944)AGGfs p.R648fs ARHGEF15_uc002gld.2_Frame_Shift_Ins_p.R648fs|ARHGEF15_uc010vuw.1_Frame_Shift_Ins_p.R537fs NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 648 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 AGGGTGCCGGAGGGGGGGCGTG 0.634 NaN NaN NaN NaN NaN NaN 7 812 --- --- CCDC103 388389 broad.mit.edu 37 17 42980014 42980015 + Frame_Shift_Del DEL AG AG - TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:42980014_42980015delAG uc002iho.2 + 4 641_642 c.558_559delAG c.(556-561)GCAGAGfs p.A186fs CCDC103_uc002ihp.1_5'Flank NM_213607 NP_998772 Q8IW40 CC103_HUMAN coiled-coil domain containing 103 186_187 kidney(1) 1 Prostate(33;0.109) TGAGCCGGGCAGAGAGAGAGAG 0.644 NaN NaN NaN NaN NaN NaN 11 116 --- --- SRP68 6730 broad.mit.edu 37 17 74068528 74068530 + In_Frame_Del DEL GCC GCC - TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr17:74068528_74068530delGCC uc002jqk.1 - 1 78_80 c.43_45delGGC c.(43-45)GGCdel p.G15del SRP68_uc010wsu.1_5'UTR|SRP68_uc002jql.1_In_Frame_Del_p.G15del|GALR2_uc002jqm.1_5'Flank NM_014230 NP_055045 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 15 Poly-Gly. Missing (in Ref. 1). response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding ovary(1) 1 cgccgccactgccgccgccgccg 0.429 NaN NaN NaN NaN NaN NaN 8 118 --- --- KIAA1683 80726 broad.mit.edu 37 19 18378205 18378206 + Frame_Shift_Del DEL TC TC - TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:18378205_18378206delTC uc002nin.2 - 3 360_361 c.144_145delGA c.(142-147)GAGAAAfs p.E48fs KIAA1683_uc010ebn.2_Frame_Shift_Del_p.E48fs|KIAA1683_uc010xqe.1_Frame_Shift_Del_p.E2fs NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 48_49 mitochondrion ovary(2) 2 GGAGGCGCTTTCTCCATTTTGT 0.653 NaN NaN NaN NaN NaN NaN 64 163 --- --- SPTBN4 57731 broad.mit.edu 37 19 41076449 41076450 + Frame_Shift_Ins INS - - A TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b181ba68-f50f-4faf-b7b5-356e119b5f04 6f399153-4bf7-482b-9657-331028dd9a37 g.chr19:41076449_41076450insA uc002ony.2 + 33 7220_7221 c.7134_7135insA c.(7132-7137)CCCAAGfs p.P2378fs SPTBN4_uc002onz.2_Frame_Shift_Ins_p.P2378fs|SPTBN4_uc010egx.2_Frame_Shift_Ins_p.P1121fs NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 2378_2379 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) gggaccggcccaagccgcgacg 0.332 NaN NaN NaN NaN NaN NaN 6 9 --- ---