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 VPS13D 55187 broad.mit.edu 37 1 12463960 12463960 + Silent SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:12463960C>G uc001atv.2 + 63 12105 c.11964C>G c.(11962-11964)CTC>CTG p.L3988L VPS13D_uc001atw.2_Silent_p.L3963L|VPS13D_uc001atx.2_Silent_p.L3175L|VPS13D_uc009vnl.2_RNA NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13D isoform 1 3987 protein localization ovary(4)|pancreas(1) 5 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TTGAAAATCTCAAAATCAGCA 0.388 NaN 0 0 0 0.013537 0 11 30 FBXO42 54455 broad.mit.edu 37 1 16641859 16641859 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:16641859C>G uc001ayg.2 - 2 271 c.55G>C c.(55-57)GAA>CAA p.E19Q FBXO42_uc001ayf.2_5'UTR|FBXO42_uc001ayh.2_Missense_Mutation_p.E19Q NM_018994 NP_061867 Q6P3S6 FBX42_HUMAN F-box protein 42 19 upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) AGCACAGTTTCTTCCTGGTCC 0.483 NaN 0 0 0 0.016723 0 12 28 MAN1C1 57134 broad.mit.edu 37 1 25944326 25944326 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:25944326C>T uc001bkm.2 + 1 368 c.38C>T c.(37-39)TCC>TTC p.S13F MAN1C1_uc009vry.1_5'UTR NM_020379 NP_065112 Q9NR34 MA1C1_HUMAN mannosidase, alpha, class 1C, member 1 13 Cytoplasmic (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(1) 1 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) GTCCCGGCCTCCCCGTGGGGG 0.701 NaN 0 0 0 0.010729 0 10 14 ARID1A 8289 broad.mit.edu 37 1 27099981 27099981 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:27099981G>C uc001bmv.1 + 15 4233 c.3860G>C c.(3859-3861)AGA>ACA p.R1287T ARID1A_uc001bmt.1_Missense_Mutation_p.R1286T|ARID1A_uc001bmu.1_Missense_Mutation_p.R1287T|ARID1A_uc001bmw.1_Missense_Mutation_p.R904T|ARID1A_uc001bmx.1_Missense_Mutation_p.R133T|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1287 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) CCTTATGACAGAGTGAGGTAA 0.582 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.014758 0 5 19 AHDC1 27245 broad.mit.edu 37 1 27876618 27876618 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:27876618C>T uc009vsy.2 - 6 2978 c.2009G>A c.(2008-2010)GGC>GAC p.G670D AHDC1_uc009vsz.1_Missense_Mutation_p.G670D NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 670 Gly-rich. DNA binding central_nervous_system(1) 1 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GCCTGCTTTGCCCCCACGCCG 0.642 NaN 0 0 0 0.009096 0 3 50 EIF3I 8668 broad.mit.edu 37 1 32691917 32691917 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:32691917G>C uc001bur.3 + 6 929 c.396G>C c.(394-396)CAG>CAC p.Q132H EIF3I_uc009vuc.2_Missense_Mutation_p.Q132H|EIF3I_uc001bus.2_Missense_Mutation_p.Q84H NM_003757 NP_003748 Q13347 EIF3I_HUMAN eukaryotic translation initiation factor 3, 132 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) ATCCGAGCCAGATTGGTGAGG 0.542 NaN 0 0 0 0.021523 0 24 72 EIF3I 8668 broad.mit.edu 37 1 32692108 32692108 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:32692108G>C uc001bur.3 + 7 1038 c.505G>C c.(505-507)GAG>CAG p.E169Q EIF3I_uc009vuc.2_Missense_Mutation_p.E169Q|EIF3I_uc001bus.2_Missense_Mutation_p.E121Q NM_003757 NP_003748 Q13347 EIF3I_HUMAN eukaryotic translation initiation factor 3, 169 WD 3. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) TGAGAGTGGAGAGCTCAACCA 0.423 NaN 0 0 0 0.01441 0 52 155 SMAP2 64744 broad.mit.edu 37 1 40882742 40882742 + Nonsense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:40882742C>T uc001cfj.2 + 9 1203 c.1138C>T c.(1138-1140)CAG>TAG p.Q380* SMAP2_uc001cfk.2_Nonsense_Mutation_p.Q350*|SMAP2_uc010oji.1_Nonsense_Mutation_p.Q297*|SMAP2_uc010ojj.1_Nonsense_Mutation_p.Q196* NM_022733 NP_073570 Q8WU79 SMAP2_HUMAN small ArfGAP2 380 Interaction with PICALM (By similarity).|Met-rich. regulation of ARF GTPase activity cytoplasm|nucleus ARF GTPase activator activity|zinc ion binding 0 Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.04e-17) CCAGCCAGCTCAGCAGCTGCA 0.522 NaN 0 0 0 0.016723 0 10 27 ASB17 127247 broad.mit.edu 37 1 76397769 76397769 + Missense_Mutation SNP A A G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:76397769A>G uc001dhe.1 - 1 348 c.208T>C c.(208-210)TAC>CAC p.Y70H ASB17_uc001dhf.1_RNA NM_080868 NP_543144 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box-containing 17 70 intracellular signal transduction ovary(1) 1 AATGCAATGTAATCTGTGAGT 0.388 NaN 0 0 0 0.016723 0 11 61 FAM73A 374986 broad.mit.edu 37 1 78267138 78267138 + Silent SNP A A G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:78267138A>G uc001dhx.2 + 3 350 c.318A>G c.(316-318)CCA>CCG p.P106P FAM73A_uc010ork.1_Silent_p.P106P|FAM73A_uc010orl.1_Silent_p.P68P|FAM73A_uc001dhy.1_5'Flank NM_198549 NP_940951 Q8NAN2 FA73A_HUMAN hypothetical protein LOC374986 106 integral to membrane ovary(1) 1 Colorectal(170;0.226) AAATATTACCATGGGAACCAG 0.353 NaN 0 0 0 0.016723 0 14 26 GBP7 388646 broad.mit.edu 37 1 89598973 89598973 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:89598973C>G uc001dna.2 - 10 1769 c.1630G>C c.(1630-1632)GAA>CAA p.E544Q GBP2_uc001dmy.1_Intron NM_207398 NP_997281 Q8N8V2 GBP7_HUMAN guanylate binding protein 4-like 544 integral to membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TTTCTCAGTTCTCTCATATAG 0.448 NaN 0 0 0 0.030466 0 33 61 LPPR4 9890 broad.mit.edu 37 1 99771891 99771891 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:99771891G>C uc001dse.2 + 7 1723 c.1617G>C c.(1615-1617)GAG>GAC p.E539D LPPR4_uc010oue.1_Missense_Mutation_p.E481D NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 539 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) TCCCTGAGGAGACTCAGGAAA 0.557 NaN 0 0 0 0.030466 0 40 126 FLG 2312 broad.mit.edu 37 1 152286242 152286242 + Nonsense_Mutation SNP C C A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:152286242C>A uc001ezu.1 - 3 1156 c.1120G>T c.(1120-1122)GAA>TAA p.E374* uc001ezv.2_RNA NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 374 Ser-rich.|Filaggrin 2. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTTGCCTGTTCATGGGATGAT 0.567 NaN Ichthyosis 1 0 1.02779e-63 0.01441 1.13056e-63 143 385 FLG2 388698 broad.mit.edu 37 1 152323603 152323603 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:152323603C>T uc001ezw.3 - 3 6732 c.6659G>A c.(6658-6660)GGA>GAA p.G2220E uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 2220 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGAGTAGTTCCCTGTCTCCC 0.532 NaN 0 0 0 0.01441 0 105 282 PGLYRP4 57115 broad.mit.edu 37 1 153309655 153309655 + Splice_Site SNP A A G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:153309655A>G uc001fbo.2 - 8 1008 c.943_splice c.e8+1 p.G315_splice PGLYRP4_uc001fbp.2_Splice_Site_p.G311_splice NM_020393 NP_065126 Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein-I-beta defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding ovary(3)|skin(1) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GCATCCACTTACCTGTGAAGG 0.507 NaN 0 0 0 0.01441 0 46 31 DCST2 127579 broad.mit.edu 37 1 155001803 155001803 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:155001803G>A uc001fgm.2 - 8 1328 c.1248C>T c.(1246-1248)CTC>CTT p.L416L DCST2_uc009wpb.2_RNA NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 416 Helical; (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCACGAGGAGGAGGTGTCGGA 0.547 NaN 0 0 0 0.021022 0 36 94 FAM189B 10712 broad.mit.edu 37 1 155218018 155218018 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:155218018C>G uc001fjm.2 - 11 2262 c.1656G>C c.(1654-1656)GAG>GAC p.E552D RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_Missense_Mutation_p.E354D|FAM189B_uc001fjn.2_Missense_Mutation_p.E456D|FAM189B_uc001fjo.2_Missense_Mutation_p.E534D|FAM189B_uc001fjp.2_RNA NM_006589 NP_006580 P81408 F189B_HUMAN hypothetical protein LOC10712 isoform a 552 integral to membrane WW domain binding ovary(1)|breast(1) 2 GGCGCCGTTTCTCGGCTGACC 0.652 NaN 0 0 0 0.024245 0 14 12 YY1AP1 55249 broad.mit.edu 37 1 155646459 155646459 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:155646459C>G uc001fln.2 - 5 426 c.402G>C c.(400-402)AAG>AAC p.K134N YY1AP1_uc010pgg.1_Missense_Mutation_p.K2N|YY1AP1_uc010pgh.1_Missense_Mutation_p.K57N|YY1AP1_uc010pgi.1_Missense_Mutation_p.K206N|YY1AP1_uc001flh.2_Missense_Mutation_p.K206N|YY1AP1_uc009wqt.2_Missense_Mutation_p.K57N|YY1AP1_uc001flk.2_Missense_Mutation_p.K57N|YY1AP1_uc001fll.2_Missense_Mutation_p.K68N|YY1AP1_uc009wqv.2_5'UTR|YY1AP1_uc001flm.2_Missense_Mutation_p.K57N|YY1AP1_uc001fli.2_Missense_Mutation_p.K68N|YY1AP1_uc009wqu.2_5'UTR|YY1AP1_uc001flj.2_Missense_Mutation_p.K68N|YY1AP1_uc009wqw.2_Missense_Mutation_p.K57N|YY1AP1_uc001flo.2_Missense_Mutation_p.K2N|YY1AP1_uc001flp.2_Missense_Mutation_p.K68N|YY1AP1_uc010pgj.1_Missense_Mutation_p.K134N|YY1AP1_uc009wqx.2_Missense_Mutation_p.K206N|YY1AP1_uc010pgk.1_Missense_Mutation_p.K206N NM_139118 NP_620829 Q9H869 YYAP1_HUMAN YY1-associated protein isoform 2 134 regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) CTGAAGGTTTCTTCATCTTCA 0.458 NaN 0 0 0 0.010504 0 18 59 POGK 57645 broad.mit.edu 37 1 166819004 166819004 + Silent SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:166819004G>C uc001gdt.1 + 5 1308 c.1188G>C c.(1186-1188)CTG>CTC p.L396L POGK_uc010ple.1_Silent_p.L311L|POGK_uc010plf.1_Silent_p.L278L NM_017542 NP_060012 Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 396 DDE. multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding ovary(1) 1 GGGAAAAACTGAAAATCACAG 0.498 NaN 0 0 0 0.013537 0 12 34 RABGAP1L 9910 broad.mit.edu 37 1 174210653 174210653 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:174210653C>T uc001gjx.2 + 5 770 c.575C>T c.(574-576)GCA>GTA p.A192V RABGAP1L_uc009wwq.1_Missense_Mutation_p.A192V|RABGAP1L_uc001gjw.2_Missense_Mutation_p.A155V NM_014857 NP_055672 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like isoform A 192 PID. regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity ovary(2)|lung(1)|kidney(1) 4 GTGGAGATAGCATCTTTTCCA 0.363 NaN 0 0 0 0.013537 0 10 23 USH2A 7399 broad.mit.edu 37 1 215955497 215955497 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:215955497G>A uc001hku.1 - 54 11014 c.10627C>T c.(10627-10629)CGT>TGT p.R3543C NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3543 Extracellular (Potential).|Fibronectin type-III 20. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CCCCGAAAACGTTCAATTCCA 0.373 NaN HNSCC(13;0.011) 0 0 0 0.021553 0 6 32 TBCE 6905 broad.mit.edu 37 1 235577915 235577915 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:235577915C>G uc001hwz.1 + 4 476 c.353C>G c.(352-354)TCT>TGT p.S118C TBCE_uc010pxq.1_RNA|TBCE_uc001hxa.1_Missense_Mutation_p.S118C|TBCE_uc010pxr.1_Missense_Mutation_p.S118C|TBCE_uc001hxb.1_5'UTR NM_003193 NP_003184 Q15813 TBCE_HUMAN beta-tubulin cofactor E 118 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding 0 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) GGTTTTGACTCTATTATGAAA 0.269 NaN 0 0 0 0.028581 0 15 20 KIF26B 55083 broad.mit.edu 37 1 245849192 245849192 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:245849192G>A uc001ibf.1 + 12 3347 c.2907G>A c.(2905-2907)GCG>GCA p.A969A KIF26B_uc001ibg.1_Silent_p.A587A|KIF26B_uc001ibh.1_Silent_p.A211A NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 969 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3) 3 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GCCAAGCAGCGGGGGCAAGCC 0.587 NaN 0 0 0 0.009096 0 3 16 ADARB2 105 broad.mit.edu 37 10 1405390 1405390 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr10:1405390G>A uc009xhq.2 - 3 1284 c.910C>T c.(910-912)CGG>TGG p.R304W NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 304 DRBM 2. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) ACGAAGCTCCGCGCGCGCCGC 0.672 NaN 0 0 0 0.00308 0 7 7 MYO3A 53904 broad.mit.edu 37 10 26462805 26462805 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr10:26462805C>T uc001isn.2 + 30 3972 c.3612C>T c.(3610-3612)TTC>TTT p.F1204F MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1204 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 AGCAAGAATTCTACCTTGTAG 0.423 NaN 0 0 0 0.004482 0 9 47 AGAP6 414189 broad.mit.edu 37 10 51748622 51748622 + Silent SNP A A G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr10:51748622A>G uc001jix.3 + 1 545 c.147A>G c.(145-147)GTA>GTG p.V49V NM_001077665 NP_001071133 Q5VW22 AGAP6_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 49 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding skin(1) 1 CTGCTGCTGTACAGCCTGCTG 0.582 NaN 0 0 0 0.021553 0 4 202 C10orf58 84293 broad.mit.edu 37 10 82187195 82187195 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr10:82187195C>G uc001kcc.3 + 5 679 c.519C>G c.(517-519)AAC>AAG p.N173K C10orf58_uc001kcd.3_Missense_Mutation_p.N162K|C10orf58_uc001kce.3_Missense_Mutation_p.N173K|C10orf58_uc001kcf.3_Missense_Mutation_p.N173K NM_032333 NP_115709 Q9BRX8 CJ058_HUMAN hypothetical protein LOC84293 precursor 173 extracellular region 0 Colorectal(32;0.229) TCTCTGGAAACCTGGAAGGAG 0.502 NaN 0 0 0 0.023175 0 38 27 MYOF 26509 broad.mit.edu 37 10 95072942 95072942 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr10:95072942G>A uc001kin.2 - 51 5847 c.5724C>T c.(5722-5724)CAC>CAT p.H1908H MYOF_uc001kio.2_Silent_p.H1895H|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 1908 Cytoplasmic (Potential). blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 GAATGATCGTGTGACGCAAGT 0.458 NaN 0 0 0 0.037714 0 30 53 SORCS3 22986 broad.mit.edu 37 10 106916944 106916944 + Nonsense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr10:106916944C>T uc001kyi.1 + 10 1758 c.1531C>T c.(1531-1533)CAG>TAG p.Q511* NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 511 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGTGGACGACCAGGTGAAGAC 0.522 NaN 0 0 0 0.027356 0 26 35 B4GALNT4 338707 broad.mit.edu 37 11 380870 380870 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:380870C>G uc001lpb.2 + 19 2924 c.2915C>G c.(2914-2916)TCG>TGG p.S972W NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN beta 972 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity pancreas(1) 1 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) ATCTACAAGTCGGACTTTGAC 0.612 NaN 0 0 0 0.004482 0 9 19 CEND1 51286 broad.mit.edu 37 11 788279 788279 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:788279C>T uc001lrh.1 - 2 477 c.298G>A c.(298-300)GGG>AGG p.G100R NM_016564 NP_057648 Q8N111 CEND_HUMAN cell cycle exit and neuronal differentiation 1 100 Cytoplasmic (Potential). integral to membrane 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;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCCTCCGCCCCGTCCCCAGGA 0.692 NaN 0 0 0 0.021553 0 6 8 OR51S1 119692 broad.mit.edu 37 11 4869844 4869844 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:4869844C>G uc010qyo.1 - 1 595 c.595G>C c.(595-597)GAA>CAA p.E199Q NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, 199 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CCCCAAGCTTCTGGGCAGGCC 0.542 NaN 0 0 0 0.010818 0 29 36 PIK3C2A 5286 broad.mit.edu 37 11 17143877 17143877 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:17143877C>T uc001mmq.3 - 14 2581 c.2515G>A c.(2515-2517)GAT>AAT p.D839N PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Missense_Mutation_p.D459N|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 839 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) GAAGGAAAATCAACCTTTAAA 0.303 NaN 0 0 0 0.02938 0 6 31 MYOD1 4654 broad.mit.edu 37 11 17741681 17741681 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:17741681G>C uc001mni.2 + 1 572 c.352G>C c.(352-354)GAG>CAG p.E118Q NM_002478 NP_002469 P15172 MYOD1_HUMAN myogenic differentiation 1 118 Basic motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development nuclear chromatin|transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity breast(2)|ovary(1) 3 CACCATGCGCGAGCGGCGCCG 0.662 NaN 0 0 0 0.004672 0 3 5 OR8J3 81168 broad.mit.edu 37 11 55904466 55904466 + Silent SNP C C A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:55904466C>A uc010riz.1 - 1 729 c.729G>T c.(727-729)TCG>TCT p.S243S NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 243 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) CTATCATATGCGAAGCGCAGG 0.403 NaN 1 0 1.99824e-07 0.0333 2.10925e-07 17 18 OSBP 5007 broad.mit.edu 37 11 59376031 59376031 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:59376031C>T uc001noc.1 - 3 1228 c.748G>A c.(748-750)GAG>AAG p.E250K NM_002556 NP_002547 P22059 OSBP1_HUMAN oxysterol binding protein 250 lipid transport Golgi membrane oxysterol binding large_intestine(1) 1 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TCATTGCTCTCAGCAGGCAAC 0.488 NaN 0 0 0 0.023175 0 38 45 CHRM1 1128 broad.mit.edu 37 11 62677566 62677566 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:62677566C>T uc001nwi.2 - 2 1408 c.1007G>A c.(1006-1008)CGA>CAA p.R336Q NM_000738 NP_000729 P11229 ACM1_HUMAN cholinergic receptor, muscarinic 1 336 Cytoplasmic (Potential). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding 0 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209) CTTGCCAGCTCGATCACGCCC 0.627 NaN 0 0 0 0.016723 0 12 15 ANO1 55107 broad.mit.edu 37 11 70007754 70007754 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:70007754G>C uc001opj.2 + 18 2112 c.1807G>C c.(1807-1809)GAG>CAG p.E603Q ANO1_uc001opk.1_Missense_Mutation_p.E545Q|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.E312Q NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 603 Cytoplasmic (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 GAAAAGCTTTGAGGAGAGGCT 0.537 NaN 0 0 0 0.034045 0 24 93 PHOX2A 401 broad.mit.edu 37 11 71950871 71950871 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr11:71950871G>A uc001osh.3 - 3 949 c.777C>T c.(775-777)TCC>TCT p.S259S NM_005169 NP_005160 O14813 PHX2A_HUMAN paired-like homeobox 2a 259 noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCCCGGGGCCGGACTCCGCCG 0.726 NaN 0 0 0 0.010729 0 11 2 KCNA6 3742 broad.mit.edu 37 12 4920778 4920778 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:4920778G>C uc001qng.2 + 1 2437 c.1571G>C c.(1570-1572)AGA>ACA p.R524T NM_002235 NP_002226 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related 524 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(2)|ovary(1) 3 GCAGAGAAAAGAATGCTCACG 0.562 NaN HNSCC(72;0.22) 0 0 0 0.014323 0 20 66 PLEKHA5 54477 broad.mit.edu 37 12 19473505 19473505 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:19473505G>C uc001reb.2 + 13 1941 c.1855G>C c.(1855-1857)GAT>CAT p.D619H PLEKHA5_uc010sie.1_Missense_Mutation_p.D722H|PLEKHA5_uc001rea.2_Missense_Mutation_p.D677H|PLEKHA5_uc009zin.2_Missense_Mutation_p.D377H|PLEKHA5_uc010sif.1_Missense_Mutation_p.D550H|PLEKHA5_uc010sig.1_Missense_Mutation_p.D538H|PLEKHA5_uc010sih.1_Missense_Mutation_p.D511H|PLEKHA5_uc001rec.1_Missense_Mutation_p.D365H|PLEKHA5_uc009zio.2_5'Flank NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A 619 1-phosphatidylinositol binding|protein binding ovary(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) GCTGTCACAAGATGAAGGTAG 0.229 NaN 0 0 0 0.016723 0 14 126 CCDC65 85478 broad.mit.edu 37 12 49315100 49315100 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:49315100C>G uc001rso.2 + 8 1556 c.1329C>G c.(1327-1329)ATC>ATG p.I443M NM_033124 NP_149115 Q8IXS2 CCD65_HUMAN coiled-coil domain containing 65 443 ovary(1)|skin(1) 2 TGGATGGCATCTCAGTGAGTG 0.498 NaN 0 0 0 0.024245 0 14 49 SCN8A 6334 broad.mit.edu 37 12 52200276 52200276 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:52200276G>A uc001ryw.2 + 27 5184 c.5006G>A c.(5005-5007)GGG>GAG p.G1669E NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 1669 IV.|Helical; Name=S5 of repeat IV; (Potential). axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TCCATTTTTGGGATGTCCAAT 0.458 NaN 0 0 0 0.010729 0 12 90 SCN8A 6334 broad.mit.edu 37 12 52200727 52200727 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:52200727C>T uc001ryw.2 + 27 5635 c.5457C>T c.(5455-5457)CTC>CTT p.L1819L NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 1819 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) AGCATCCTCTCCGAGTGCCCA 0.527 NaN 0 0 0 0.030466 0 42 47 MBD6 114785 broad.mit.edu 37 12 57918191 57918191 + Silent SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:57918191C>G uc001soj.1 + 3 329 c.105C>G c.(103-105)CTC>CTG p.L35L MBD6_uc001sok.1_5'Flank|MBD6_uc001sol.1_5'Flank NM_052897 NP_443129 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 35 MBD. chromosome|nucleus chromatin binding|DNA binding central_nervous_system(3)|ovary(1) 4 GTGCTGTGCTCTACATCAGGT 0.587 NaN 0 0 0 0.02938 0 6 41 CAND1 55832 broad.mit.edu 37 12 67703818 67703818 + Nonsense_Mutation SNP G G T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:67703818G>T uc001stn.2 + 12 3600 c.3163G>T c.(3163-3165)GAA>TAA p.E1055* CAND1_uc001sto.2_Nonsense_Mutation_p.E565* NM_018448 NP_060918 Q86VP6 CAND1_HUMAN TIP120 protein 1055 HEAT 25. cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TCTTTACAATGAAACAAAAGT 0.348 NaN 1 0 1.67942e-08 0.006122 1.79081e-08 18 47 KIAA1033 23325 broad.mit.edu 37 12 105527601 105527601 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:105527601C>G uc001tld.2 + 14 1340 c.1253C>G c.(1252-1254)TCT>TGT p.S418C KIAA1033_uc010swr.1_Missense_Mutation_p.S418C|KIAA1033_uc010sws.1_Missense_Mutation_p.S230C NM_015275 NP_056090 Q2M389 WAHS7_HUMAN hypothetical protein LOC23325 418 endosome transport WASH complex kidney(1)|central_nervous_system(1) 2 AAAATGGAATCTATTTTGTCT 0.343 NaN 0 0 0 0.010504 0 22 49 DDX54 79039 broad.mit.edu 37 12 113596723 113596723 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:113596723C>G uc001tup.2 - 20 2633 c.2605G>C c.(2605-2607)GGT>CGT p.G869R CCDC42B_uc010sys.1_3'UTR|DDX54_uc001tuq.3_Missense_Mutation_p.G870R NM_024072 NP_076977 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 869 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity skin(2)|central_nervous_system(1) 3 GAGCGGGCACCCCGGCCGAAG 0.642 NaN 0 0 0 0.004482 0 6 34 MLEC 9761 broad.mit.edu 37 12 121132930 121132930 + Silent SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:121132930C>G uc001tyy.1 + 4 775 c.624C>G c.(622-624)CTC>CTG p.L208L NM_014730 NP_055545 Q14165 MLEC_HUMAN malectin precursor 208 Lumenal (Potential). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding ovary(1) 1 TCTGTGCACTCTACATCATGG 0.498 NaN 0 0 0 0.021523 0 27 231 RSRC2 65117 broad.mit.edu 37 12 123005942 123005942 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:123005942C>G uc001ucr.2 - 3 343 c.197G>C c.(196-198)AGA>ACA p.R66T RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_5'UTR|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Missense_Mutation_p.E11Q|RSRC2_uc001ucu.2_Missense_Mutation_p.R66T NM_023012 NP_075388 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 isoform a 66 Ser-rich. ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) CTCTTTGCTTCTGCTCCGGCT 0.318 NaN 0 0 0 0.006122 0 16 32 GPR133 283383 broad.mit.edu 37 12 131490586 131490586 + Missense_Mutation SNP A A C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr12:131490586A>C uc001uit.3 + 12 1884 c.1325A>C c.(1324-1326)CAC>CCC p.H442P GPR133_uc010tbm.1_Missense_Mutation_p.H474P NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 442 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TGGCCCGCCCACACCAAGTGA 0.647 NaN 0 0 0 0.01892 0 23 47 PARP4 143 broad.mit.edu 37 13 25021310 25021310 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr13:25021310C>T uc001upl.2 - 26 3235 c.3129G>A c.(3127-3129)ATG>ATA p.M1043I NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 1043 VWFA. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity p.M1043I(1) ovary(3)|skin(1) 4 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) ATAGCCTGGTCATTTGGTCTT 0.433 NaN 0 0 0 0.021553 0 5 41 MTUS2 23281 broad.mit.edu 37 13 29600135 29600135 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr13:29600135G>A uc001usl.3 + 1 1388 c.1330G>A c.(1330-1332)GAC>AAC p.D444N NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 434 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 TTCACCAGGTGACAGTCATGT 0.488 NaN 0 0 0 0.008291 0 9 44 FOXO1 2308 broad.mit.edu 37 13 41133687 41133687 + Silent SNP T T C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr13:41133687T>C uc001uxl.3 - 2 2326 c.1941A>G c.(1939-1941)ACA>ACG p.T647T FOXO1_uc010acc.1_Silent_p.T462T NM_002015 NP_002006 Q12778 FOXO1_HUMAN forkhead box O1 647 anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding PAX3/FOXO1(749)|PAX7/FOXO1(197) soft_tissue(946)|lung(1)|central_nervous_system(1) 948 Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815) TATGTGTCGTTGTCTTGACAC 0.428 NaN 0 0 0 0.01441 0 40 56 COG3 83548 broad.mit.edu 37 13 46039343 46039343 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr13:46039343G>A uc001vak.2 + 1 273 c.172G>A c.(172-174)GAG>AAG p.E58K COG3_uc010tfu.1_RNA|COG3_uc001vai.2_Missense_Mutation_p.E58K|COG3_uc001vaj.1_Missense_Mutation_p.E58K|COG3_uc010tfv.1_5'UTR NM_031431 NP_113619 Q96JB2 COG3_HUMAN component of golgi transport complex 3 58 ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER cis-Golgi network|Golgi cisterna membrane|Golgi transport complex protein binding|protein transporter activity breast(1)|skin(1) 2 Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000124) GGTGCCAGCTGAGGTGAGGTG 0.692 NaN 0 0 0 0.0333 0 15 35 DCT 1638 broad.mit.edu 37 13 95114290 95114290 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr13:95114290G>A uc001vlv.3 - 5 1444 c.1017C>T c.(1015-1017)TTC>TTT p.F339F DCT_uc010afh.2_Silent_p.F339F NM_001922 NP_001913 P40126 TYRP2_HUMAN dopachrome tautomerase isoform 1 339 Lumenal, melanosome (Potential). epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) AGTTCTGGAAGAAGGGAGGAT 0.448 NaN 0 0 0 0.010729 0 12 37 ITGBL1 9358 broad.mit.edu 37 13 102106412 102106412 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr13:102106412G>A uc001vpb.2 + 2 496 c.277G>A c.(277-279)GAG>AAG p.E93K ITGBL1_uc010agb.2_Missense_Mutation_p.E93K|ITGBL1_uc001vpc.3_Intron NM_004791 NP_004782 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat 93 I.|Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity ovary(1)|skin(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGAGTGCCATGAGTGGGTGTG 0.667 NaN 0 0 0 0.02938 0 4 10 C13orf28 122258 broad.mit.edu 37 13 113052394 113052394 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr13:113052394G>A uc001vsd.1 + 3 214 c.183G>A c.(181-183)CTG>CTA p.L61L NM_145248 NP_660291 Q96KW9 SPAC7_HUMAN hypothetical protein LOC122258 precursor 61 extracellular region 0 all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163) TTTTAGATCTGAATAAAACAA 0.473 NaN 0 0 0 0.012213 0 29 100 RALGAPA1 253959 broad.mit.edu 37 14 36064860 36064860 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr14:36064860C>G uc001wti.2 - 36 6062 c.5671G>C c.(5671-5673)GAT>CAT p.D1891H RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.D1891H|RALGAPA1_uc010tpv.1_Missense_Mutation_p.D1904H|RALGAPA1_uc010tpw.1_Missense_Mutation_p.D1938H NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 1891 Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP. activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 AAAGAATCATCAGAATCAGAA 0.338 NaN 0 0 0 0.004482 0 6 59 PCNX 22990 broad.mit.edu 37 14 71443817 71443817 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr14:71443817C>T uc001xmo.2 + 6 1209 c.763C>T c.(763-765)CTG>TTG p.L255L PCNX_uc001xmn.3_Silent_p.L255L|PCNX_uc010are.1_Silent_p.L255L NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 255 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TGATCAGTCTCTGTCCAGCGC 0.502 NaN 0 0 0 0.006214 0 10 23 CCNK 8812 broad.mit.edu 37 14 99967695 99967695 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr14:99967695G>C uc001ygi.3 + 6 650 c.520G>C c.(520-522)GAT>CAT p.D174H CCNK_uc001ygg.3_Missense_Mutation_p.D174H NM_001099402 NP_001092872 O75909 CCNK_HUMAN cyclin K isoform 1 174 cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein kinase binding 0 all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866) ATTTCTAGGTGATAAAAACAA 0.294 NaN 0 0 0 0.006214 0 9 15 CYP46A1 10858 broad.mit.edu 37 14 100157446 100157446 + Missense_Mutation SNP T T C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr14:100157446T>C uc001ygo.2 + 2 148 c.148T>C c.(148-150)TGG>CGG p.W50R CYP46A1_uc001ygn.1_5'UTR NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46 50 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity 0 Melanoma(154;0.0866)|all_epithelial(191;0.179) CCCCTGCTTTTGGAAAAAGGA 0.483 NaN 0 0 0 0.030466 0 38 58 GABRB3 2562 broad.mit.edu 37 15 26792968 26792968 + Nonsense_Mutation SNP A A T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr15:26792968A>T uc001zaz.2 - 9 1536 c.1394T>A c.(1393-1395)TTA>TAA p.L465* GABRB3_uc010uae.1_Nonsense_Mutation_p.L380*|GABRB3_uc001zba.2_Nonsense_Mutation_p.L465*|GABRB3_uc001zbb.2_Nonsense_Mutation_p.L521* NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 465 Helical; (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CCAGTAAACTAAGTTGAAAAG 0.353 NaN 0 0 0 0.014323 0 22 32 TM6SF1 53346 broad.mit.edu 37 15 83776474 83776474 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr15:83776474C>T uc002bjp.2 + 1 151 c.42C>T c.(40-42)CTC>CTT p.L14L TM6SF1_uc010bmq.2_Silent_p.L14L|TM6SF1_uc002bjq.2_Silent_p.L14L|TM6SF1_uc010bmr.2_RNA NM_023003 NP_075379 Q9BZW5 TM6S1_HUMAN transmembrane 6 superfamily member 1 isoform 1 14 Helical; (Potential). integral to membrane ovary(1) 1 TGCTGTCCCTCTCGGCCATCC 0.567 NaN 0 0 0 0.021553 0 6 12 MCTP2 55784 broad.mit.edu 37 15 94913372 94913372 + Silent SNP T T G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr15:94913372T>G uc002btj.2 + 11 1610 c.1545T>G c.(1543-1545)GTT>GTG p.V515V MCTP2_uc002bti.2_Silent_p.V515V|MCTP2_uc010boj.2_Silent_p.V244V|MCTP2_uc010bok.2_Silent_p.V515V|MCTP2_uc002btk.3_Silent_p.V103V|MCTP2_uc002btl.2_Silent_p.V103V NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 isoform 1 515 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) AAGTGAAGGTTTTAAAGGCAG 0.373 NaN 0 0 0 0.004482 0 7 26 STUB1 10273 broad.mit.edu 37 16 732417 732417 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr16:732417C>T uc002cit.2 + 7 1251 c.840C>T c.(838-840)CTC>CTT p.L280L STUB1_uc002ciu.2_Silent_p.L208L|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR NM_005861 NP_005852 Q9UNE7 CHIP_HUMAN STIP1 homology and U-box containing protein 1 280 U-box. L -> F (in Ref. 1; AAC18038). cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity 0 Hepatocellular(780;0.00335) AGGAACAGCTCATCCCCAACT 0.587 NaN 0 0 0 0.008871 0 21 52 TSC2 7249 broad.mit.edu 37 16 2131631 2131631 + Missense_Mutation SNP C C A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr16:2131631C>A uc002con.2 + 31 3752 c.3646C>A c.(3646-3648)CTC>ATC p.L1216I TSC2_uc010bsd.2_Missense_Mutation_p.L1216I|TSC2_uc002coo.2_Missense_Mutation_p.L1172I|TSC2_uc010uvv.1_Missense_Mutation_p.L1136I|TSC2_uc010uvw.1_Missense_Mutation_p.L1124I|TSC2_uc002cop.2_Missense_Mutation_p.L972I|TSC2_uc002coq.2_5'Flank|TSC2_uc002cor.2_5'Flank NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 1216 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1) 10 Hepatocellular(780;0.0202) GGAGAACCCGCTCAGCCCTTT 0.637 NaN D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 1 0 2.0095e-06 0.02938 2.11048e-06 6 101 BFAR 51283 broad.mit.edu 37 16 14748942 14748942 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr16:14748942G>A uc002dco.2 + 5 939 c.658G>A c.(658-660)GAG>AAG p.E220K BFAR_uc002dcp.2_Missense_Mutation_p.E95K|BFAR_uc010uzh.1_Missense_Mutation_p.E92K NM_016561 NP_057645 Q9NZS9 BFAR_HUMAN bifunctional apoptosis regulator 220 Lumenal (Potential).|SAM. anti-apoptosis|apoptosis endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction structural molecule activity|zinc ion binding ovary(1)|skin(1) 2 AACTTTGACAGAGGAAGAATT 0.443 NaN 0 0 0 0.010504 0 19 101 CDH8 1006 broad.mit.edu 37 16 61851482 61851482 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr16:61851482G>A uc002eog.1 - 7 1430 c.1178C>T c.(1177-1179)TCA>TTA p.S393L CDH8_uc002eoh.2_Missense_Mutation_p.S162L NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 393 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GTAAGTCGGTGAAGAGAAGAC 0.498 NaN 0 0 0 0.008871 0 19 44 DUS2L 54920 broad.mit.edu 37 16 68071989 68071989 + Silent SNP G G T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr16:68071989G>T uc002evi.2 + 3 212 c.63G>T c.(61-63)CGG>CGT p.R21R DUS2L_uc002evj.2_Silent_p.R21R|DUS2L_uc010vkk.1_Silent_p.R21R|DUS2L_uc010cez.2_5'UTR NM_017803 NP_060273 Q9NX74 DUS2L_HUMAN dihydrouridine synthase 2-like, SMM1 homolog 21 tRNA processing endoplasmic reticulum double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564) CAATGGTTCGGGTAGGGACTC 0.473 NaN 1 0 4.26978e-12 0.01892 4.64783e-12 20 36 ANKRD11 29123 broad.mit.edu 37 16 89351556 89351556 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr16:89351556C>T uc002fmx.1 - 9 1855 c.1394G>A c.(1393-1395)AGA>AAA p.R465K ANKRD11_uc002fmy.1_Missense_Mutation_p.R465K|ANKRD11_uc002fnc.1_Missense_Mutation_p.R465K|ANKRD11_uc002fnb.1_Missense_Mutation_p.R422K NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 465 nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GCGAACCTCTCTGCCTtttgt 0.443 NaN 0 0 0 0.02938 0 7 26 VPS53 55275 broad.mit.edu 37 17 465901 465901 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr17:465901G>A uc002frn.2 - 14 1545 c.1398C>T c.(1396-1398)GCC>GCT p.A466A VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Silent_p.A466A|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Silent_p.A437A|VPS53_uc002fro.2_Silent_p.A268A|VPS53_uc010cjp.1_Silent_p.A189A NM_018289 NP_060759 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 isoform 2 466 A -> T (in Ref. 2; AAK27973). protein transport endosome membrane|Golgi apparatus 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) TGGGGAGCACGGCACCCCCTT 0.552 NaN 0 0 0 0.021523 0 23 5 LLGL1 3996 broad.mit.edu 37 17 18137636 18137636 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr17:18137636C>T uc002gsp.2 + 7 825 c.764C>T c.(763-765)TCA>TTA p.S255L NM_004140 NP_004131 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 255 WD 5. cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1) 6 all_neural(463;0.228) GTGGTCAGCTCACACAGCGAT 0.517 NaN 0 0 0 0.004482 0 9 4 KRT37 8688 broad.mit.edu 37 17 39580632 39580632 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr17:39580632G>A uc002hwp.1 - 1 191 c.144C>T c.(142-144)AAC>AAT p.N48N uc002hwo.1_RNA NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 48 Head. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) CGTGTGCCACGTTGGCCAAGA 0.617 NaN 0 0 0 0.009096 0 4 92 HDAC5 10014 broad.mit.edu 37 17 42165952 42165952 + Nonsense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr17:42165952G>A uc002ifd.1 - 12 1613 c.1402C>T c.(1402-1404)CAG>TAG p.Q468* HDAC5_uc002ife.1_Nonsense_Mutation_p.Q468*|HDAC5_uc002iff.1_Nonsense_Mutation_p.Q469*|HDAC5_uc010czp.1_Nonsense_Mutation_p.Q468*|HDAC5_uc002ifh.2_Nonsense_Mutation_p.Q468* NM_005474 NP_005465 Q9UQL6 HDAC5_HUMAN histone deacetylase 5 isoform 1 468 B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding ovary(1) 1 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) AGTGGGGACTGCCCGTGGAGT 0.652 NaN 0 0 0 0.009096 0 3 41 TOB1 10140 broad.mit.edu 37 17 48940765 48940765 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr17:48940765G>A uc002isw.2 - 1 649 c.614C>T c.(613-615)TCT>TTT p.S205F TOB1_uc010wmy.1_Missense_Mutation_p.S205F|TOB1_uc010wmz.1_Missense_Mutation_p.S205F NM_005749 NP_005740 P50616 TOB1_HUMAN transducer of ERBB2, 1 205 negative regulation of cell proliferation SH3/SH2 adaptor activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) GTTGATGGGAGAAGTACGTGC 0.473 NaN 0 0 0 0.020292 0 14 72 TOB1 10140 broad.mit.edu 37 17 48941123 48941123 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr17:48941123G>A uc002isw.2 - 1 291 c.256C>T c.(256-258)CTG>TTG p.L86L TOB1_uc010wmy.1_Silent_p.L86L|TOB1_uc010wmz.1_Silent_p.L86L NM_005749 NP_005740 P50616 TOB1_HUMAN transducer of ERBB2, 1 86 negative regulation of cell proliferation SH3/SH2 adaptor activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) TCCTGTGGCAGATTGCCACGA 0.433 NaN 0 0 0 0.017118 0 33 90 SDK2 54549 broad.mit.edu 37 17 71386527 71386527 + Missense_Mutation SNP C C A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr17:71386527C>A uc010dfm.2 - 29 4091 c.4091G>T c.(4090-4092)GGC>GTC p.G1364V SDK2_uc002jjt.3_Missense_Mutation_p.G523V|SDK2_uc010dfn.2_Missense_Mutation_p.G1043V NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1364 Fibronectin type-III 8.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 TGGCTTGAGGCCCGTGGCTGT 0.647 NaN 1 0 0.00909568 0.009096 0.00927316 4 23 SALL3 27164 broad.mit.edu 37 18 76753543 76753543 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr18:76753543G>A uc002lmt.2 + 2 1552 c.1552G>A c.(1552-1554)GTG>ATG p.V518M SALL3_uc010dra.2_Missense_Mutation_p.V125M NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 518 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CAGCAAGCCCGTGCTGCCCAC 0.721 NaN 0 0 0 0.014758 0 4 7 ZNF208 7757 broad.mit.edu 37 19 22155504 22155504 + Missense_Mutation SNP T T C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr19:22155504T>C uc002nqp.2 - 5 2181 c.2032A>G c.(2032-2034)AAA>GAA p.K678E ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TCTTCACATTTGTAGGGTTTC 0.368 NaN 0 0 0 0.004672 0 3 26 ZNF829 374899 broad.mit.edu 37 19 37383084 37383084 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr19:37383084C>G uc002ofa.1 - 6 971 c.609G>C c.(607-609)CAG>CAC p.Q203H ZNF345_uc002oez.2_Intron NM_001037232 NP_001032309 Q3KNS6 ZN829_HUMAN zinc finger protein 829 203 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGTGAATCCTCTGATGTCGAG 0.383 NaN 0 0 0 0.024245 0 14 43 SPTBN4 57731 broad.mit.edu 37 19 41040194 41040194 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr19:41040194G>C uc002ony.2 + 20 4389 c.4303G>C c.(4303-4305)GAC>CAC p.D1435H SPTBN4_uc002onx.2_Missense_Mutation_p.D1435H|SPTBN4_uc002onz.2_Missense_Mutation_p.D1435H|SPTBN4_uc010egx.2_Missense_Mutation_p.D178H|SPTBN4_uc010egy.1_Missense_Mutation_p.D111H|SPTBN4_uc002ooa.2_Missense_Mutation_p.D111H|SPTBN4_uc010egz.1_Missense_Mutation_p.D111H NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 1435 Spectrin 12. 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) CCAGCTGCAAGACGTGGACCC 0.582 NaN 0 0 0 0.006214 0 8 46 CYP2F1 1572 broad.mit.edu 37 19 41631523 41631523 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr19:41631523C>T uc002opu.1 + 9 1334 c.1278C>T c.(1276-1278)TTC>TTT p.F426F CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_3'UTR|CYP2F1_uc002opv.1_RNA NM_000774 NP_000765 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, 426 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 GTCCAGCCTTCATGCCCTTCT 0.527 NaN 0 0 0 0.037714 0 10 95 MBOAT7 79143 broad.mit.edu 37 19 54692145 54692145 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr19:54692145G>A uc002qdq.2 - 4 398 c.132C>T c.(130-132)TTC>TTT p.F44F MBOAT7_uc010erg.2_5'Flank|MBOAT7_uc010yem.1_Silent_p.F26F|MBOAT7_uc002qdr.2_Silent_p.F44F|MBOAT7_uc002qds.2_Missense_Mutation_p.H14Y|MBOAT7_uc010yen.1_Missense_Mutation_p.H14Y|MBOAT7_uc002qdt.3_Silent_p.F44F|TSEN34_uc010yeo.1_5'Flank|TSEN34_uc002qdu.2_5'Flank|TSEN34_uc002qdv.2_5'Flank|TSEN34_uc002qdw.2_5'Flank NM_024298 NP_077274 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain 44 Helical; (Potential). phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GGCCACAGGTGAACAGGGTGA 0.627 NaN 0 0 0 0.020292 0 15 44 NLRP8 126205 broad.mit.edu 37 19 56466904 56466904 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr19:56466904C>T uc002qmh.2 + 3 1551 c.1480C>T c.(1480-1482)CGG>TGG p.R494W NLRP8_uc010etg.2_Missense_Mutation_p.R494W NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 494 NACHT. cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GAGTATTCTTCGGAGAATTGC 0.468 NaN 0 0 0 0.020292 0 14 159 PXDN 7837 broad.mit.edu 37 2 1652231 1652232 + Missense_Mutation DNP CC CC AG TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:1652231_1652232CC>AG uc002qxa.2 - 17 3384_3385 c.3320_3321GG>CT c.(3319-3321)CGG>CCT p.R1107P NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1107 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CATTCACAATCCGGAAGGGAGA 0.589 NaN 0 0 0 0.004672 0 13 21 OTX1 5013 broad.mit.edu 37 2 63282824 63282824 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:63282824C>T uc002scd.2 + 5 686 c.438C>T c.(436-438)TCC>TCT p.S146S OTX1_uc010ypt.1_Silent_p.S80S NM_014562 NP_055377 P32242 OTX1_HUMAN orthodenticle homeobox 1 146 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(2) 2 Lung NSC(7;0.121)|all_lung(7;0.211) CCAGCTCTTCCGCCAACCCAG 0.677 NaN 0 0 0 0.028581 0 14 22 SLC1A4 6509 broad.mit.edu 37 2 65245358 65245358 + Silent SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:65245358C>G uc010yqa.1 + 6 1510 c.1188C>G c.(1186-1188)CTC>CTG p.L396L SLC1A4_uc010ypy.1_Silent_p.L176L|SLC1A4_uc010ypz.1_Silent_p.L98L|SLC1A4_uc010fcv.2_Silent_p.L396L|SLC1A4_uc002sdh.2_Silent_p.L176L NM_003038 NP_003029 P43007 SATT_HUMAN solute carrier family 1, member 4 isoform 1 396 cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic intermediate filament|melanosome chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(1) 1 L-Alanine(DB00160) TTGCGCAACTCAACAACGTAG 0.498 NaN 0 0 0 0.013537 0 11 96 AAK1 22848 broad.mit.edu 37 2 69759277 69759277 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:69759277C>T uc002sfp.2 - 6 1057 c.552G>A c.(550-552)TTG>TTA p.L184L AAK1_uc010fdk.2_Silent_p.L184L|AAK1_uc010yqm.1_Silent_p.L184L NM_014911 NP_055726 Q2M2I8 AAK1_HUMAN AP2 associated kinase 1 184 Protein kinase. coated pit|mitochondrion|plasma membrane ATP binding|protein serine/threonine kinase activity 0 CTCGGTCATGCAAGAGGATGT 0.413 NaN 0 0 0 0.006214 0 10 25 EMX1 2016 broad.mit.edu 37 2 73160942 73160942 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:73160942G>A uc002sin.1 + 3 1110 c.732G>A c.(730-732)AGG>AGA p.R244R EMX1_uc002sim.1_Missense_Mutation_p.D197N NM_004097 NP_004088 Q04741 EMX1_HUMAN empty spiracles homolog 1 211 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 AGAACCGGAGGACAAAGTACA 0.607 NaN 0 0 0 0.030593 0 28 10 KDM3A 55818 broad.mit.edu 37 2 86678259 86678259 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:86678259G>A uc002sri.3 + 4 703 c.376G>A c.(376-378)GGA>AGA p.G126R KDM3A_uc010ytj.1_Missense_Mutation_p.G126R|KDM3A_uc010ytk.1_Missense_Mutation_p.G74R NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN jumonji domain containing 1A 126 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 5 AGCTGGTTTGGGATCCATAAC 0.368 NaN 0 0 0 0.023175 0 31 7 TGFBRAP1 9392 broad.mit.edu 37 2 105900801 105900801 + Nonsense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:105900801G>A uc002tcq.2 - 5 1177 c.1093C>T c.(1093-1095)CAG>TAG p.Q365* TGFBRAP1_uc010fjc.2_Nonsense_Mutation_p.Q135*|TGFBRAP1_uc002tcr.3_Nonsense_Mutation_p.Q365* NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor 365 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|skin(1) 2 TCCAGGAACTGAAGTTGTGCA 0.468 NaN 0 0 0 0.027356 0 23 66 RGPD4 285190 broad.mit.edu 37 2 108487551 108487551 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:108487551G>A uc010ywk.1 + 20 3173 c.3091G>A c.(3091-3093)GAG>AAG p.E1031K RGPD4_uc002tdu.2_Missense_Mutation_p.E218K|RGPD4_uc010ywl.1_RNA NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1031 intracellular transport binding skin(2) 2 CTATAAGACTGAGGACAGCGA 0.393 NaN 0 0 0 0.01441 0 60 148 KIF5C 3800 broad.mit.edu 37 2 149861968 149861968 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:149861968G>A uc010zbu.1 + 22 2803 c.2435G>A c.(2434-2436)CGA>CAA p.R812Q KIF5C_uc002tws.1_RNA|KIF5C_uc002twu.1_Missense_Mutation_p.R94Q NM_004522 NP_004513 O60282 KIF5C_HUMAN kinesin family member 5C 812 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.108) CTGACCACCCGAGTTAAAAAA 0.403 NaN 0 0 0 0.004672 0 3 16 TTN 7273 broad.mit.edu 37 2 179438341 179438341 + Missense_Mutation SNP A A G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:179438341A>G uc010zfg.1 - 275 65038 c.64814T>C c.(64813-64815)GTA>GCA p.V21605A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V15300A|TTN_uc010zfi.1_Missense_Mutation_p.V15233A|TTN_uc010zfj.1_Missense_Mutation_p.V15108A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22532 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) TTCTGAGGCTACATTTGTCCA 0.408 NaN 0 0 0 0.01441 0 137 51 TTN 7273 broad.mit.edu 37 2 179501130 179501130 + Missense_Mutation SNP A A G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:179501130A>G uc010zfg.1 - 174 33844 c.33620T>C c.(33619-33621)GTA>GCA p.V11207A TTN_uc010zfh.1_Missense_Mutation_p.V4902A|TTN_uc010zfi.1_Missense_Mutation_p.V4835A|TTN_uc010zfj.1_Missense_Mutation_p.V4710A|TTN_uc010fre.1_Missense_Mutation_p.V1068A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12134 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) ATTACCTTCTACAACAAGTTT 0.343 NaN 0 0 0 0.00308 0 7 3 TTN 7273 broad.mit.edu 37 2 179596192 179596192 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:179596192G>A uc010zfg.1 - 56 13793 c.13569C>T c.(13567-13569)AGC>AGT p.S4523S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S1184S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 5450 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) TGATTTCATCGCTGTCTTTTA 0.483 NaN 0 0 0 0.004672 0 3 36 CDK15 65061 broad.mit.edu 37 2 202698639 202698639 + Silent SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:202698639G>C uc002uyt.2 + 7 724 c.675G>C c.(673-675)CTG>CTC p.L225L CDK15_uc010ftm.2_Silent_p.L90L|CDK15_uc002uys.2_Silent_p.L174L|CDK15_uc010ftn.1_Silent_p.L174L|CDK15_uc010fto.1_Silent_p.L204L NM_139158 NP_631897 Q96Q40 CDK15_HUMAN PFTAIRE protein kinase 2 225 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding p.E225D(1) breast(2)|ovary(1)|lung(1)|kidney(1) 5 Adenosine triphosphate(DB00171) ACAGGGACCTGAAACCTCAGA 0.493 NaN 0 0 0 0.010818 0 27 55 ALS2CR8 79800 broad.mit.edu 37 2 203831743 203831743 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:203831743G>A uc002uzo.2 + 9 1155 c.875G>A c.(874-876)AGA>AAA p.R292K ALS2CR8_uc010zhy.1_3'UTR|ALS2CR8_uc010zhz.1_RNA|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.R216K|ALS2CR8_uc010zib.1_Missense_Mutation_p.R216K|ALS2CR8_uc010zic.1_Missense_Mutation_p.R204K|ALS2CR8_uc002uzp.2_Missense_Mutation_p.R292K NM_001104586 NP_001098056 Q8N187 AL2S8_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 292 large_intestine(1)|ovary(1) 2 GGGCCAAGAAGAAAAGGTTTC 0.408 NaN 0 0 0 0.009535 0 27 59 SPHKAP 80309 broad.mit.edu 37 2 228886493 228886493 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:228886493C>T uc002vpq.2 - 6 678 c.631G>A c.(631-633)GAG>AAG p.E211K SPHKAP_uc002vpp.2_Missense_Mutation_p.E211K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E211K NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 211 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AAGTCTTCCTCGATTGAAGAT 0.468 NaN 0 0 0 0.027356 0 26 33 FARP2 9855 broad.mit.edu 37 2 242373632 242373632 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:242373632C>T uc002wbi.1 + 10 1044 c.927C>T c.(925-927)TTC>TTT p.F309F FARP2_uc010zoq.1_Silent_p.F309F|FARP2_uc010zor.1_Silent_p.F309F NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 309 FERM. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) GTAAGAACTTCTGGAAGATTT 0.398 NaN 0 0 0 0.037714 0 27 52 FARP2 9855 broad.mit.edu 37 2 242373728 242373728 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:242373728C>G uc002wbi.1 + 10 1140 c.1023C>G c.(1021-1023)TTC>TTG p.F341L FARP2_uc010zoq.1_Missense_Mutation_p.F341L|FARP2_uc010zor.1_Missense_Mutation_p.F341L NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 341 axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) GCTCCTCCTTCAGATACAGGT 0.458 NaN 0 0 0 0.008291 0 11 23 SEL1L2 80343 broad.mit.edu 37 20 13847482 13847482 + Missense_Mutation SNP A A G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr20:13847482A>G uc010gcf.2 - 15 1352 c.1270T>C c.(1270-1272)TGG>CGG p.W424R SEL1L2_uc002woq.3_Missense_Mutation_p.W285R|SEL1L2_uc010zrl.1_Missense_Mutation_p.W424R|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 424 Extracellular (Potential).|Sel1-like 8. integral to membrane binding ovary(2) 2 TAATCCTTCCATATTCCAGAG 0.363 NaN 0 0 0 0.021553 0 6 61 C20orf186 149954 broad.mit.edu 37 20 31671341 31671341 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr20:31671341G>A uc010zue.1 + 3 353 c.338G>A c.(337-339)GGA>GAA p.G113E NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 113 cytoplasm|extracellular region lipid binding 0 GAGTCCGAGGGAAGCATCAGG 0.552 NaN 0 0 0 0.009096 0 4 73 FAM83C 128876 broad.mit.edu 37 20 33879831 33879831 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr20:33879831C>T uc010zux.1 - 1 395 c.277G>A c.(277-279)GAG>AAG p.E93K FAM83C_uc002xcb.1_5'UTR NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 93 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) CCCTGAGCCTCGCTGAGCTCA 0.662 NaN 0 0 0 0.010729 0 11 41 C20orf132 140699 broad.mit.edu 37 20 35766314 35766314 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr20:35766314G>A uc010zvu.1 - 15 1669 c.1578C>T c.(1576-1578)GTC>GTT p.V526V C20orf132_uc002xgk.2_Silent_p.V148V|C20orf132_uc002xgm.2_Silent_p.V526V|C20orf132_uc002xgn.2_Silent_p.V491V NM_152503 NP_689716 Q9H579 CT132_HUMAN hypothetical protein LOC140699 isoform 1 401 0 Myeloproliferative disorder(115;0.00878) TTTGTTGGCGGACTCTAGGCT 0.408 NaN 0 0 0 0.014758 0 5 16 ZNF335 63925 broad.mit.edu 37 20 44578441 44578441 + Nonsense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr20:44578441G>A uc002xqw.2 - 24 3790 c.3667C>T c.(3667-3669)CAG>TAG p.Q1223* ZNF335_uc002xqv.2_Nonsense_Mutation_p.Q335*|ZNF335_uc010zxk.1_Nonsense_Mutation_p.Q1068* NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 1223 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) TAGCTCACCTGGTTGTCGGAG 0.562 NaN 0 0 0 0.00308 0 7 65 ZMYND8 23613 broad.mit.edu 37 20 45850114 45850114 + Nonsense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr20:45850114G>A uc002xta.1 - 20 3462 c.3208C>T c.(3208-3210)CAG>TAG p.Q1070* ZMYND8_uc010ghq.1_Nonsense_Mutation_p.Q701*|ZMYND8_uc010ghr.1_Nonsense_Mutation_p.Q972*|ZMYND8_uc002xst.1_Nonsense_Mutation_p.Q952*|ZMYND8_uc002xsu.1_Nonsense_Mutation_p.Q943*|ZMYND8_uc002xsv.1_Nonsense_Mutation_p.Q998*|ZMYND8_uc002xsw.1_Nonsense_Mutation_p.Q776*|ZMYND8_uc002xsx.1_Nonsense_Mutation_p.Q776*|ZMYND8_uc002xsy.1_Nonsense_Mutation_p.Q999*|ZMYND8_uc002xsz.1_Nonsense_Mutation_p.Q961*|ZMYND8_uc010zxy.1_Nonsense_Mutation_p.Q1097*|ZMYND8_uc002xtb.1_Nonsense_Mutation_p.Q1044*|ZMYND8_uc002xss.2_Nonsense_Mutation_p.Q1070*|ZMYND8_uc010zxz.1_Nonsense_Mutation_p.Q938*|ZMYND8_uc002xtc.1_Nonsense_Mutation_p.Q1044*|ZMYND8_uc002xtd.1_Nonsense_Mutation_p.Q1019*|ZMYND8_uc002xte.1_Nonsense_Mutation_p.Q1024*|ZMYND8_uc010zya.1_Nonsense_Mutation_p.Q1070*|ZMYND8_uc002xtf.1_Nonsense_Mutation_p.Q1090*|ZMYND8_uc002xsr.1_Nonsense_Mutation_p.Q169* NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 1070 protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GCTTCCTGCTGAGGAGCAGTA 0.547 NaN 0 0 0 0.02938 0 7 25 CCT8 10694 broad.mit.edu 37 21 30435690 30435690 + Silent SNP A A G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr21:30435690A>G uc002ynb.2 - 8 1023 c.924T>C c.(922-924)TAT>TAC p.Y308Y CCT8_uc002ymz.2_5'Flank|CCT8_uc011acp.1_Silent_p.Y289Y|CCT8_uc002yna.2_Silent_p.Y257Y|CCT8_uc002ync.2_Silent_p.Y307Y|CCT8_uc010glm.2_Silent_p.Y249Y|CCT8_uc011acq.1_Silent_p.Y235Y NM_006585 NP_006576 P50990 TCPQ_HUMAN chaperonin containing TCP1, subunit 8 (theta) 308 'de novo' posttranslational protein folding aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center ATP binding|ATPase activity, coupled|unfolded protein binding 0 ACATGATATTATATTTATTTG 0.343 NaN 0 0 0 0.027356 0 25 32 TMPRSS2 7113 broad.mit.edu 37 21 42848536 42848536 + Missense_Mutation SNP G G T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr21:42848536G>T uc002yzj.2 - 8 829 c.695C>A c.(694-696)TCT>TAT p.S232Y TMPRSS2_uc010gor.2_Missense_Mutation_p.S269Y|TMPRSS2_uc010gos.1_Missense_Mutation_p.S232Y NM_005656 NP_005647 O15393 TMPS2_HUMAN transmembrane protease, serine 2 isoform 2 232 Extracellular (Potential).|SRCR. 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) TGCTTTTGAAGAACAGGCATC 0.428 NaN T ERG|ETV1|ETV4|ETV5 prostate 1 0 3.07112e-06 0.010729 3.19335e-06 10 57 PDXK 8566 broad.mit.edu 37 21 45170387 45170387 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr21:45170387G>A uc002zdm.3 + 7 669 c.471G>A c.(469-471)CTG>CTA p.L157L PDXK_uc010gpj.2_Silent_p.L157L|PDXK_uc002zdn.3_Silent_p.L129L|PDXK_uc002zdq.3_Silent_p.L84L NM_003681 NP_003672 O00764 PDXK_HUMAN pyridoxal kinase 157 cell proliferation|pyridoxal 5'-phosphate salvage cytosol ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding 0 Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18) Pyridoxal(DB00147)|Pyridoxine(DB00165) CCAGGTTACTGAGTGGCCGGA 0.652 NaN 0 0 0 0.021553 0 4 21 PDXK 8566 broad.mit.edu 37 21 45170412 45170412 + Nonsense_Mutation SNP G G T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr21:45170412G>T uc002zdm.3 + 7 694 c.496G>T c.(496-498)GAG>TAG p.E166* PDXK_uc010gpj.2_Nonsense_Mutation_p.E166*|PDXK_uc002zdn.3_Nonsense_Mutation_p.E138*|PDXK_uc002zdq.3_Nonsense_Mutation_p.E93* NM_003681 NP_003672 O00764 PDXK_HUMAN pyridoxal kinase 166 cell proliferation|pyridoxal 5'-phosphate salvage cytosol ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding 0 Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18) Pyridoxal(DB00147)|Pyridoxine(DB00165) CCACAGCCAGGAGGAAGCCTT 0.652 NaN 1 0 5.18039e-06 0.00308 5.35991e-06 6 27 CCT8L2 150160 broad.mit.edu 37 22 17072820 17072820 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr22:17072820C>T uc002zlp.1 - 1 881 c.621G>A c.(619-621)GCG>GCA p.A207A NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 207 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity p.A207V(1) ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CCCCGGGCAGCGCGCACACCC 0.617 NaN 0 0 0 0.023175 0 37 63 CECR2 27443 broad.mit.edu 37 22 17976471 17976471 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr22:17976471C>T uc010gqw.1 + 2 258 c.132C>T c.(130-132)ATC>ATT p.I44I CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'Flank NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 86 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) AGGACATCATCAACTACCGCT 0.522 NaN 0 0 0 0.009096 0 4 22 PRODH 5625 broad.mit.edu 37 22 18918708 18918708 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr22:18918708G>A uc010grl.2 - 2 291 c.277C>T c.(277-279)CTG>TTG p.L93L PRODH_uc002zoj.3_Intron|PRODH_uc002zol.3_5'UTR|PRODH_uc002zok.3_Silent_p.L93L NM_016335 NP_057419 O43272 PROD_HUMAN proline dehydrogenase 1 93 glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process mitochondrial inner membrane|mitochondrial matrix proline dehydrogenase activity breast(1) 1 L-Proline(DB00172) GAAACATACAGCAGCTGAAAG 0.547 NaN 0 0 0 0.020292 0 13 33 MTMR3 8897 broad.mit.edu 37 22 30403146 30403146 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr22:30403146G>C uc003agv.3 + 10 1043 c.715G>C c.(715-717)GAG>CAG p.E239Q MTMR3_uc003agu.3_Missense_Mutation_p.E239Q|MTMR3_uc003agw.3_Missense_Mutation_p.E239Q NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 239 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TGGACAGCCAGAGGTTAGCTG 0.537 NaN 0 0 0 0.0333 0 16 53 HMGXB4 10042 broad.mit.edu 37 22 35660675 35660675 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr22:35660675G>C uc003anl.2 + 5 468 c.294G>C c.(292-294)AAG>AAC p.K98N HMGXB4_uc011amh.1_5'UTR|HMGXB4_uc003ank.2_5'UTR NM_001003681 NP_001003681 Q9UGU5 HMGX4_HUMAN high-mobility group protein 2-like 1 98 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|skin(1) 2 AGAAGAAAAAGAAAAAGTCCA 0.438 NaN 0 0 0 0.016522 0 24 53 PDGFB 5155 broad.mit.edu 37 22 39626222 39626222 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr22:39626222G>A uc003axf.2 - 5 1457 c.468C>T c.(466-468)ATC>ATT p.I156I PDGFB_uc003axe.2_Silent_p.I141I NM_002608 NP_002599 P01127 PDGFB_HUMAN platelet-derived growth factor beta isoform 1 156 activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(1) 373 Melanoma(58;0.04) Becaplermin(DB00102) GCACAATCTCGATCTTTCTCA 0.582 NaN T COL1A1 DFSP 0 0 0 0.006122 0 16 37 ACR 49 broad.mit.edu 37 22 51182532 51182532 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr22:51182532C>T uc003bnh.3 + 4 621 c.609C>T c.(607-609)CTC>CTT p.L203L NM_001097 NP_001088 P10323 ACRO_HUMAN acrosin precursor 203 Peptidase S1. acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding 0 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) GTGTGGATCTCATCGACCTGG 0.567 NaN 0 0 0 0.01441 0 43 108 HDAC11 79885 broad.mit.edu 37 3 13544448 13544448 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:13544448G>A uc003bxy.2 + 8 750 c.617G>A c.(616-618)CGC>CAC p.R206H HDAC11_uc010heb.2_Missense_Mutation_p.A164T|HDAC11_uc011aux.1_Missense_Mutation_p.R14H|HDAC11_uc011auy.1_Missense_Mutation_p.R155H NM_024827 NP_079103 Q96DB2 HDA11_HUMAN histone deacetylase 11 isoform 1 206 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding ovary(2) 2 GTCTACAACCGCCACATCTAC 0.547 NaN 0 0 0 0.027356 0 25 210 ANKRD28 23243 broad.mit.edu 37 3 15720866 15720866 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:15720866C>T uc003caj.1 - 23 2556 c.2413G>A c.(2413-2415)GAG>AAG p.E805K ANKRD28_uc003cai.1_Missense_Mutation_p.E651K|ANKRD28_uc011avz.1_Missense_Mutation_p.E651K|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_Intron NM_015199 NP_056014 O15084 ANR28_HUMAN ankyrin repeat domain 28 805 ANK 23. nucleoplasm protein binding breast(1) 1 ATTAACATCTCAGCAGCACCT 0.343 NaN 0 0 0 0.01441 0 43 143 NGLY1 55768 broad.mit.edu 37 3 25761126 25761126 + Missense_Mutation SNP T T C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:25761126T>C uc003cdl.2 - 12 1898 c.1790A>G c.(1789-1791)GAT>GGT p.D597G NGLY1_uc010hfg.2_Missense_Mutation_p.D579G|NGLY1_uc003cdm.2_Missense_Mutation_p.I538V|NGLY1_uc011awo.1_Missense_Mutation_p.D555G|NGLY1_uc003cdk.2_RNA NM_018297 NP_060767 Q96IV0 NGLY1_HUMAN N-glycanase 1 isoform 1 597 PAW. glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1) 1 AAGACTGTTATCTGTTAGAGG 0.343 NaN 0 0 0 0.007413 0 19 26 ZCWPW2 152098 broad.mit.edu 37 3 28520378 28520378 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:28520378C>G uc003ceh.2 + 5 734 c.566C>G c.(565-567)TCT>TGT p.S189C ZCWPW2_uc003cei.2_Missense_Mutation_p.S189C|ZCWPW2_uc010hfo.2_5'UTR NM_001040432 NP_001035522 Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 189 zinc ion binding ovary(2) 2 TATGGATATTCTCATGAGCAA 0.294 NaN 0 0 0 0.004482 0 7 40 STT3B 201595 broad.mit.edu 37 3 31638349 31638349 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:31638349C>T uc011axe.1 + 4 771 c.771C>T c.(769-771)TTC>TTT p.F257F STT3B_uc010hft.1_Silent_p.F257F|STT3B_uc003cer.1_Silent_p.F257F|STT3B_uc003cet.2_Silent_p.F8F NM_178862 NP_849193 Q8TCJ2 STT3B_HUMAN source of immunodominant MHC-associated 257 Helical; (Potential). protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding 0 TATCCTATTTCTATATGGTAA 0.313 NaN 0 0 0 0.024245 0 13 43 TRIM71 131405 broad.mit.edu 37 3 32932410 32932410 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:32932410G>C uc003cff.2 + 4 1777 c.1714G>C c.(1714-1716)GAG>CAG p.E572Q NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN tripartite motif-containing 71 572 Filamin. multicellular organismal development cytoplasm zinc ion binding ovary(2)|large_intestine(1) 3 CCAGCACATTGAGAACAGCCC 0.582 NaN 0 0 0 0.012319 0 21 86 KBTBD5 131377 broad.mit.edu 37 3 42727789 42727789 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:42727789C>T uc003clv.1 + 1 779 c.679C>T c.(679-681)CGC>TGC p.R227C NM_152393 NP_689606 Q2TBA0 KBTB5_HUMAN kelch repeat and BTB (POZ) domain containing 5 227 BACK. ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.214) CGTGCGCTGCCGCTTGCTGCC 0.706 NaN 0 0 0 0.02938 0 7 4 C3orf39 84892 broad.mit.edu 37 3 43122017 43122017 + Nonsense_Mutation SNP C C A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:43122017C>A uc003cmq.1 - 2 1048 c.907G>T c.(907-909)GAG>TAG p.E303* C3orf39_uc003cmr.1_Nonsense_Mutation_p.E303* NM_032806 NP_116195 Q8NAT1 AGO61_HUMAN glycosyltransferase precursor 303 extracellular region transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718) AGCTCTGCCTCATTCAGAATG 0.552 NaN 1 0 6.44725e-10 0.014323 6.94575e-10 23 80 ZNF167 55888 broad.mit.edu 37 3 44612265 44612265 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:44612265G>A uc010hin.2 + 6 2051 c.1663G>A c.(1663-1665)GAA>AAA p.E555K ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.E555K|ZNF167_uc003cnk.2_Intron NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN zinc finger protein 167 isoform 1 555 C2H2-type 7. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) TGAGTGTAGTGAATGTGGCAA 0.438 NaN 0 0 0 0.013537 0 13 82 SCAP 22937 broad.mit.edu 37 3 47470073 47470073 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:47470073C>T uc003crh.1 - 4 595 c.340G>A c.(340-342)GTA>ATA p.V114I SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 114 Lumenal (By similarity). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) GAACGAAATACATCTACTGCC 0.547 NaN 0 0 0 0.01441 0 61 88 GRM2 2912 broad.mit.edu 37 3 51746586 51746586 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:51746586G>A uc010hlv.2 + 3 787 c.548G>A c.(547-549)CGC>CAC p.R183H GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 183 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) TACTTTGCCCGCACAGTGCCT 0.542 NaN 0 0 0 0.009096 0 4 177 GLYCTK 132158 broad.mit.edu 37 3 52325777 52325777 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:52325777C>G uc003ddo.2 + 4 640 c.544C>G c.(544-546)CTG>GTG p.L182V GLYCTK_uc003ddq.2_Intron|GLYCTK_uc003ddm.2_RNA|GLYCTK_uc003ddn.2_Intron|GLYCTK_uc003ddp.1_Missense_Mutation_p.L182V|GLYCTK_uc003ddr.2_5'Flank NM_145262 NP_660305 Q8IVS8 GLCTK_HUMAN glycerate kinase isoform 1 182 protein phosphorylation Golgi apparatus|mitochondrion ATP binding|glycerate kinase activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235) GGGTTCAGCTCTGCTGCCTGC 0.577 NaN OREG0015611 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.016522 0 22 83 ERC2 26059 broad.mit.edu 37 3 56026169 56026169 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:56026169G>A uc003dhr.1 - 11 2427 c.2171C>T c.(2170-2172)GCG>GTG p.A724V ERC2_uc003dht.1_Missense_Mutation_p.A207V NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 724 Potential. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GTCCACTTCCGCTTGGGCCTT 0.478 NaN 0 0 0 0.01441 0 98 103 PDZRN3 23024 broad.mit.edu 37 3 73432662 73432662 + Missense_Mutation SNP C C T rs146957114 TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:73432662C>T uc003dpl.1 - 10 3151 c.3055G>A c.(3055-3057)GAA>AAA p.E1019K PDZRN3_uc011bgh.1_Missense_Mutation_p.E676K|PDZRN3_uc010hoe.1_Missense_Mutation_p.E717K|PDZRN3_uc011bgf.1_Missense_Mutation_p.E736K|PDZRN3_uc011bgg.1_Missense_Mutation_p.E739K NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 1019 Potential. ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TGGCTCAGTTCGAGAATGTTC 0.498 NaN 0 0 0 0.021553 0 6 315 ROBO1 6091 broad.mit.edu 37 3 78666910 78666910 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:78666910C>T uc003dqe.2 - 27 4365 c.4157G>A c.(4156-4158)GGA>GAA p.G1386E ROBO1_uc003dqb.2_Missense_Mutation_p.G1347E|ROBO1_uc003dqc.2_Missense_Mutation_p.G1286E|ROBO1_uc003dqd.2_Missense_Mutation_p.G1341E|ROBO1_uc010hoh.2_Missense_Mutation_p.G578E|ROBO1_uc011bgl.1_Missense_Mutation_p.G958E NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1386 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) ACTGGAGCGTCCGCTGGAAAT 0.577 NaN 0 0 0 0.006214 0 9 30 OR5H6 79295 broad.mit.edu 37 3 97983269 97983269 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:97983269C>G uc003dsi.1 + 1 141 c.141C>G c.(139-141)TTC>TTG p.F47L NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, 47 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 TCCTGGCATTCTTGGTAATAT 0.413 NaN 0 0 0 0.01441 0 70 187 COPB2 9276 broad.mit.edu 37 3 139085454 139085454 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:139085454G>A uc003etf.3 - 15 1970 c.1840C>T c.(1840-1842)CCA>TCA p.P614S COPB2_uc011bmv.1_Missense_Mutation_p.P585S|COPB2_uc010hui.2_Missense_Mutation_p.P585S NM_004766 NP_004757 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta 614 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(2) 2 TGTTCTTTTGGAATGGTAGGA 0.403 NaN 0 0 0 0.02938 0 6 34 MECOM 2122 broad.mit.edu 37 3 169099220 169099220 + Nonsense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:169099220G>A uc011bpj.1 - 2 533 c.130C>T c.(130-132)CAA>TAA p.Q44* MECOM_uc003ffl.2_Nonsense_Mutation_p.Q16*|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Nonsense_Mutation_p.Q44*|MECOM_uc011bpl.1_Nonsense_Mutation_p.Q44* NM_004991 NP_004982 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform c Error:Variant_position_missing_in_Q03112_after_alignment apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 CATGGCTCTTGAATATTGAGG 0.473 NaN 0 0 0 0.009096 0 4 35 MAP3K13 9175 broad.mit.edu 37 3 185181390 185181390 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr3:185181390G>A uc010hyf.2 + 9 1597 c.1331G>A c.(1330-1332)GGA>GAA p.G444E MAP3K13_uc011brt.1_Missense_Mutation_p.G237E|MAP3K13_uc011bru.1_Missense_Mutation_p.G300E|MAP3K13_uc003fpi.2_Missense_Mutation_p.G444E|MAP3K13_uc010hyg.2_Missense_Mutation_p.G134E NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 444 Leucine-zipper 1. activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAAAGTGAAGGAACTTGTATA 0.443 NaN 0 0 0 0.02938 0 7 74 HTRA3 94031 broad.mit.edu 37 4 8307709 8307709 + Missense_Mutation SNP A A G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr4:8307709A>G uc003gla.2 + 9 1412 c.1208A>G c.(1207-1209)CAA>CGA p.Q403R NM_053044 NP_444272 P83110 HTRA3_HUMAN HtrA serine peptidase 3 precursor 403 PDZ. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity ovary(1) 1 GGCGGCATCCAAGATGGTGAC 0.647 NaN 0 0 0 0.014758 0 4 79 SEMA5A 9037 broad.mit.edu 37 5 9190451 9190451 + Missense_Mutation SNP G G A rs141668225 TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr5:9190451G>A uc003jek.2 - 11 1913 c.1201C>T c.(1201-1203)CGC>TGC p.R401C NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 401 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 TGGGAAAAGCGGCTATTGTCC 0.567 NaN 0 0 0 0.027356 0 26 69 ROPN1L 83853 broad.mit.edu 37 5 10450167 10450167 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr5:10450167G>C uc003jex.3 + 3 630 c.359G>C c.(358-360)TGT>TCT p.C120S NM_031916 NP_114122 Q96C74 ROP1L_HUMAN ropporin 1-like 120 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding ovary(1) 1 CTGGATCCTTGTGAAAACAAA 0.408 NaN 0 0 0 0.012319 0 20 103 SPEF2 79925 broad.mit.edu 37 5 35709167 35709167 + Missense_Mutation SNP T T C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr5:35709167T>C uc003jjo.2 + 19 2894 c.2783T>C c.(2782-2784)ATT>ACT p.I928T SPEF2_uc003jjq.3_Missense_Mutation_p.I923T|SPEF2_uc003jjp.1_Missense_Mutation_p.I414T NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 928 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAGAAGGAAATTCATCAAAGC 0.423 NaN 0 0 0 0.021553 0 6 82 FBN2 2201 broad.mit.edu 37 5 127638767 127638767 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr5:127638767C>T uc003kuu.2 - 46 6254 c.5815G>A c.(5815-5817)GAG>AAG p.E1939K NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1939 EGF-like 32; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGATGCCGCTCGCACTCATCA 0.348 NaN 0 0 0 0.012213 0 31 6 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139889761 139889761 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr5:139889761C>T uc003lfs.1 + 22 4223 c.4099C>T c.(4099-4101)CGC>TGC p.R1367C ANKHD1_uc003lfq.1_Missense_Mutation_p.R1386C|ANKHD1_uc003lfr.2_Missense_Mutation_p.R1367C|ANKHD1_uc003lft.1_Missense_Mutation_p.R578C|ANKHD1_uc003lfu.1_Missense_Mutation_p.R847C|ANKHD1_uc003lfv.1_Missense_Mutation_p.R444C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.R106C|ANKHD1_uc003lfw.2_Missense_Mutation_p.R5C NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1367 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCAGCATTTCGCAAGGTAAT 0.388 NaN 0 0 0 0.014758 0 4 23 DCTN4 51164 broad.mit.edu 37 5 150099298 150099298 + Missense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr5:150099298G>A uc003lsv.2 - 10 1045 c.943C>T c.(943-945)CCC>TCC p.P315S DCTN4_uc003lsu.2_Missense_Mutation_p.P258S|DCTN4_uc010jhi.2_Missense_Mutation_p.P322S NM_016221 NP_057305 Q9UJW0 DCTN4_HUMAN dynactin 4 (p62) isoform b 315 centrosome|nucleus protein N-terminus binding central_nervous_system(1) 1 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGAAGGTTGGGAATTGACATG 0.333 NaN 0 0 0 0.008871 0 19 2 STK10 6793 broad.mit.edu 37 5 171472003 171472003 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr5:171472003C>G uc003mbo.1 - 19 3090 c.2790G>C c.(2788-2790)CAG>CAC p.Q930H NM_005990 NP_005981 O94804 STK10_HUMAN serine/threonine kinase 10 930 Potential. ATP binding|protein serine/threonine kinase activity ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1) 8 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCCGCTTCTTCTGGTTCAGAT 0.587 NaN 0 0 0 0.016723 0 13 35 FGFR4 2264 broad.mit.edu 37 5 176523291 176523291 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr5:176523291C>T uc003mfl.2 + 15 2115 c.1948C>T c.(1948-1950)CGC>TGC p.R650C FGFR4_uc003mfm.2_Missense_Mutation_p.R650C|FGFR4_uc011dfu.1_Missense_Mutation_p.R582C|FGFR4_uc003mfo.2_Missense_Mutation_p.R610C NM_002011 NP_002002 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 isoform 1 650 Protein kinase.|Cytoplasmic (Potential). insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1) 16 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) CCTCCAGGGCCGCCTGCCTGT 0.672 NaN TSP Lung(9;0.080) 0 0 0 0.028581 0 13 42 ZBTB12 221527 broad.mit.edu 37 6 31868680 31868680 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr6:31868680C>G uc003nyd.1 - 2 579 c.403G>C c.(403-405)GAG>CAG p.E135Q C2_uc003nyc.2_Intron|C2_uc011doo.1_Intron|C2_uc011dop.1_5'Flank NM_181842 NP_862825 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ACCCCATCCTCTTTGAGGCCT 0.602 NaN 0 0 0 0.01892 0 22 48 SCUBE3 222663 broad.mit.edu 37 6 35207570 35207570 + Missense_Mutation SNP A A G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr6:35207570A>G uc003okf.1 + 8 877 c.871A>G c.(871-873)ATT>GTT p.I291V SCUBE3_uc003okg.1_Missense_Mutation_p.I290V|SCUBE3_uc003okh.1_Missense_Mutation_p.I178V NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 291 EGF-like 7; calcium-binding (Potential). protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 CTGTGACCATATTTGCCGCAA 0.463 NaN 0 0 0 0.009096 0 3 75 CDK19 23097 broad.mit.edu 37 6 110943360 110943360 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr6:110943360G>A uc003puh.1 - 11 1114 c.1041C>T c.(1039-1041)GCC>GCT p.A347A CDK19_uc003pui.1_Silent_p.A287A|CDK19_uc011eax.1_Silent_p.A223A NM_015076 NP_055891 Q9BWU1 CDK19_HUMAN cell division cycle 2-like 6 (CDK8-like) 347 ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 TCTGGCAGCCGGCAAATACAC 0.318 NaN 0 0 0 0.009096 0 3 73 LATS1 9113 broad.mit.edu 37 6 150001017 150001017 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr6:150001017G>C uc003qmu.1 - 5 3135 c.2587C>G c.(2587-2589)CAG>GAG p.Q863E LATS1_uc010kif.1_Missense_Mutation_p.Q758E|LATS1_uc003qmv.1_Missense_Mutation_p.Q863E NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 863 Protein kinase. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) TTACCACTCTGATAGTACTTA 0.313 NaN 0 0 0 0.024245 0 15 21 SYNE1 23345 broad.mit.edu 37 6 152461088 152461088 + Silent SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr6:152461088G>C uc010kiw.2 - 140 26057 c.25455C>G c.(25453-25455)CTC>CTG p.L8485L SYNE1_uc010kiv.2_Silent_p.L3009L|SYNE1_uc003qos.3_Silent_p.L3009L|SYNE1_uc003qot.3_Silent_p.L8437L|SYNE1_uc003qou.3_Silent_p.L8485L|SYNE1_uc003qop.3_Silent_p.L670L|SYNE1_uc011eez.1_Silent_p.L687L|SYNE1_uc003qoq.3_Silent_p.L687L|SYNE1_uc003qor.3_Silent_p.L1408L NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8485 Cytoplasmic (Potential).|Spectrin 31. 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) CAGCTACCTTGAGCTTTTTGA 0.587 NaN HNSCC(10;0.0054) 0 0 0 0.004482 0 9 45 GPR141 353345 broad.mit.edu 37 7 37780343 37780343 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr7:37780343C>G uc003tfm.1 + 1 348 c.348C>G c.(346-348)ATC>ATG p.I116M uc003tfl.2_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN G protein-coupled receptor 141 116 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 GATACCTCATCTTCTTCAAGT 0.493 NaN 0 0 0 0.024245 0 13 91 LIMK1 3984 broad.mit.edu 37 7 73513430 73513430 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr7:73513430C>T uc003uaa.1 + 5 635 c.470C>T c.(469-471)TCC>TTC p.S157F RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.S123F|LIMK1_uc003uac.1_5'UTR NM_002314 NP_002305 P53667 LIMK1_HUMAN LIM domain kinase 1 157 actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding stomach(2)|ovary(1) 3 Lung NSC(55;0.137) TCCCCTGGCTCCCACCTGCCC 0.647 NaN 0 0 0 0.01441 0 53 226 FAM71F2 346653 broad.mit.edu 37 7 128317840 128317840 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr7:128317840G>A uc003vnk.3 + 3 694 c.588G>A c.(586-588)AAG>AAA p.K196K FAM71F2_uc010llm.1_Silent_p.K187K|FAM71F2_uc003vnl.2_RNA|FAM71F2_uc010lln.1_RNA NM_001012454 NP_001012457 Q6NXP2 F71F2_HUMAN hypothetical protein LOC346653 isoform a 196 0 TGGTGCCCAAGATGCCCACCA 0.453 NaN 0 0 0 0.01892 0 23 21 TRPV5 56302 broad.mit.edu 37 7 142626153 142626153 + Nonsense_Mutation SNP C C A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr7:142626153C>A uc003wby.1 - 5 814 c.550G>T c.(550-552)GAG>TAG p.E184* TRPV5_uc003wbz.2_Nonsense_Mutation_p.E184* NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 184 ANK 4.|Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) GCTCCATGCTCAATGAGCAGC 0.612 NaN 1 0 2.23348e-06 0.028581 2.33399e-06 12 30 PPP1R3B 79660 broad.mit.edu 37 8 8998846 8998846 + Missense_Mutation SNP C C G TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr8:8998846C>G uc003wsn.3 - 2 481 c.316G>C c.(316-318)GAG>CAG p.E106Q PPP1R3B_uc003wso.3_Missense_Mutation_p.E105Q NM_024607 NP_078883 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory (inhibitor) 106 glycogen metabolic process ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) CTCTCGCTCTCTGCTGTCGTC 0.483 NaN 0 0 0 0.012213 0 33 58 BMP1 649 broad.mit.edu 37 8 22033756 22033756 + Silent SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr8:22033756G>A uc003xbg.2 + 3 607 c.363G>A c.(361-363)GCG>GCA p.A121A BMP1_uc011kzb.1_RNA|BMP1_uc003xba.2_Silent_p.A121A|BMP1_uc003xbb.2_Silent_p.A121A|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_5'UTR|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_5'UTR|BMP1_uc011kzc.1_5'UTR|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA NM_006129 NP_006120 P13497 BMP1_HUMAN bone morphogenetic protein 1 isoform 3 121 Metalloprotease. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding ovary(2)|breast(1) 3 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) GCCGGCGGGCGGCGACGTCCC 0.622 NaN 0 0 0 0.01892 0 22 41 PPP3CC 5533 broad.mit.edu 37 8 22332514 22332514 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr8:22332514G>C uc003xbs.2 + 2 424 c.97G>C c.(97-99)GAG>CAG p.E33Q PPP3CC_uc003xbr.1_Missense_Mutation_p.E33Q|PPP3CC_uc011kzi.1_Missense_Mutation_p.E33Q|PPP3CC_uc003xbt.2_Missense_Mutation_p.E33Q NM_005605 NP_005596 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma 33 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals cytosol calmodulin binding|metal ion binding|phosphoprotein phosphatase activity ovary(1) 1 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) GGAAGTATTTGAGAATGGGAA 0.338 NaN 0 0 0 0.008291 0 10 20 LSM1 27257 broad.mit.edu 37 8 38021254 38021254 + Silent SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr8:38021254C>T uc003xkw.2 - 4 524 c.336G>A c.(334-336)TTG>TTA p.L112L LSM1_uc003xkx.2_RNA NM_014462 NP_055277 O15116 LSM1_HUMAN Lsm1 protein 112 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions cytosol|nucleus|ribonucleoprotein complex protein binding|RNA binding 0 Colorectal(12;0.000442) CCTGCACTTTCAACTTCTCTG 0.478 NaN 0 0 0 0.006214 0 9 31 ST18 9705 broad.mit.edu 37 8 53084772 53084772 + Missense_Mutation SNP T T C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr8:53084772T>C uc003xqz.2 - 5 805 c.649A>G c.(649-651)AGA>GGA p.R217G ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.R182G|ST18_uc011lds.1_Missense_Mutation_p.R122G|ST18_uc003xra.2_Missense_Mutation_p.R217G|ST18_uc003xrb.2_Missense_Mutation_p.R217G NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 217 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TTTGGGACTCTAGGTGGTTTG 0.413 NaN 0 0 0 0.01892 0 24 24 NOL6 65083 broad.mit.edu 37 9 33464905 33464905 + Silent SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr9:33464905G>C uc003zsz.2 - 21 2852 c.2751C>G c.(2749-2751)CTC>CTG p.L917L SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'UTR|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Silent_p.L914L|NOL6_uc011lob.1_Silent_p.L865L|NOL6_uc003ztb.1_Silent_p.L917L NM_022917 NP_075068 Q9H6R4 NOL6_HUMAN nucleolar protein family 6 alpha isoform 917 rRNA processing condensed nuclear chromosome|nucleolus RNA binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) GGTTGACAAAGAGGGGGTTGT 0.483 NaN 0 0 0 0.028581 0 13 27 NR4A3 8013 broad.mit.edu 37 9 102590691 102590691 + Missense_Mutation SNP C C A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr9:102590691C>A uc004baf.1 + 3 1096 c.367C>A c.(367-369)CCG>ACG p.P123T NR4A3_uc004bae.2_Missense_Mutation_p.P123T|NR4A3_uc004bag.1_Missense_Mutation_p.P123T|NR4A3_uc004bai.2_Missense_Mutation_p.P134T NM_006981 NP_008912 Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 123 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding EWSR1/NR4A3(140)|TAF15/NR4A3(33) bone(173) 173 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) AGCCTCCAGCCCGGAGGACGA 0.537 NaN T EWSR1 extraskeletal myxoid chondrosarcoma 1 0 1.52319e-26 0.033182 1.66673e-26 38 0 ZBTB26 57684 broad.mit.edu 37 9 125681289 125681289 + Nonsense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr9:125681289G>A uc004bnj.2 - 2 1137 c.925C>T c.(925-927)CAG>TAG p.Q309* ZBTB26_uc004bnk.2_Nonsense_Mutation_p.Q309* NM_020924 NP_065975 Q9HCK0 ZBT26_HUMAN zinc finger and BTB domain containing 26 309 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTGCCTTTCTGAGTGAAAGTC 0.443 NaN 0 0 0 0.016522 0 24 35 STRBP 55342 broad.mit.edu 37 9 125898322 125898322 + Nonsense_Mutation SNP G G A TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr9:125898322G>A uc004bns.2 - 16 2201 c.1771C>T c.(1771-1773)CAG>TAG p.Q591* STRBP_uc004bnt.2_Nonsense_Mutation_p.Q409*|STRBP_uc004bnu.2_Nonsense_Mutation_p.Q577*|STRBP_uc004bnv.2_Nonsense_Mutation_p.Q591*|STRBP_uc004bnr.2_Nonsense_Mutation_p.Q150* NM_018387 NP_060857 Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 591 multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|skin(1) 2 ACTCATACCTGAGGGATAATC 0.378 NaN 0 0 0 0.004482 0 8 20 TSC1 7248 broad.mit.edu 37 9 135797300 135797300 + Missense_Mutation SNP C C G rs118203401 TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr9:135797300C>G uc004cca.2 - 7 803 c.569G>C c.(568-570)CGC>CCC p.R190P TSC1_uc004ccb.3_Missense_Mutation_p.R190P|TSC1_uc011mcq.1_Missense_Mutation_p.R139P|TSC1_uc011mcr.1_Missense_Mutation_p.R69P|TSC1_uc011mcs.1_Missense_Mutation_p.R69P|TSC1_uc004ccc.1_Missense_Mutation_p.R190P|TSC1_uc004ccd.2_Missense_Mutation_p.R190P|TSC1_uc004cce.1_Missense_Mutation_p.R190P NM_000368 NP_000359 Q92574 TSC1_HUMAN tuberous sclerosis 1 protein isoform 1 190 R -> S. activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1) 14 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TCCATAAAGGCGATGAAAGAG 0.458 NaN D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 0 0 0 0.021022 0 32 7 TBL1X 6907 broad.mit.edu 37 X 9659696 9659696 + Nonsense_Mutation SNP G G T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chrX:9659696G>T uc010ndq.2 + 8 1062 c.694G>T c.(694-696)GAG>TAG p.E232* TBL1X_uc004csq.3_Nonsense_Mutation_p.E181*|TBL1X_uc010ndr.2_Nonsense_Mutation_p.E181*|TBL1X_uc004csr.2_Nonsense_Mutation_p.E232*|TBL1X_uc004css.2_Nonsense_Mutation_p.E183* NM_001139466 NP_001132938 O60907 TBL1X_HUMAN transducin beta-like 1X isoform a 232 WD 1. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Hepatocellular(5;0.000888) TCGGGGCCATGAGTCTGAGGT 0.527 NaN 1 0 1.13719e-10 0.037714 1.23147e-10 30 5 ATRX 546 broad.mit.edu 37 X 76939532 76939532 + Missense_Mutation SNP G G C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chrX:76939532G>C uc004ecp.3 - 9 1448 c.1216C>G c.(1216-1218)CAT>GAT p.H406D ATRX_uc004ecq.3_Missense_Mutation_p.H368D|ATRX_uc004eco.3_Missense_Mutation_p.H191D|ATRX_uc004ecr.2_Missense_Mutation_p.H367D|ATRX_uc010nlx.1_Missense_Mutation_p.H406D|ATRX_uc010nly.1_Missense_Mutation_p.H351D NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 406 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) AATGCAAGATGAGCCTTCTTA 0.358 NaN Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 0 0 0 0.01441 0 71 87 GPR119 139760 broad.mit.edu 37 X 129518617 129518617 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chrX:129518617C>T uc011muv.1 - 1 805 c.805G>A c.(805-807)GTG>ATG p.V269M NM_178471 NP_848566 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 269 Helical; Name=7; (Potential). integral to membrane|plasma membrane lipid binding ovary(2) 2 GAGTTGCCCACGCCGAGCAGC 0.577 NaN 0 0 0 0.01441 0 63 1 MAGEC1 9947 broad.mit.edu 37 X 140993970 140993970 + Silent SNP T T C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chrX:140993970T>C uc004fbt.2 + 4 1066 c.780T>C c.(778-780)TTT>TTC p.F260F MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 260 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AGAGTACTTTTGAGGGTTTTG 0.498 NaN HNSCC(15;0.026) 0 0 0 0.021553 0 5 87 MAEL 84944 broad.mit.edu 37 1 166974581 166974581 + Frame_Shift_Del DEL T T - TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr1:166974581delT uc001gdy.1 + 8 863 c.792delT c.(790-792)ACTfs p.T264fs MAEL_uc001gdz.1_Frame_Shift_Del_p.T233fs|MAEL_uc009wvf.1_RNA NM_032858 NP_116247 Q96JY0 MAEL_HUMAN maelstrom homolog 264 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 CCTCTAAGACTTGGATTCGAA 0.398 NaN NaN NaN NaN NaN NaN 22 22 --- --- CHGA 1113 broad.mit.edu 37 14 93398816 93398818 + In_Frame_Del DEL GAG GAG - TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr14:93398816_93398818delGAG uc001ybc.3 + 7 1170_1172 c.910_912delGAG c.(910-912)GAGdel p.E308del CHGA_uc010aum.2_RNA|CHGA_uc001ybd.3_In_Frame_Del_p.E157del NM_001275 NP_001266 P10645 CMGA_HUMAN chromogranin A precursor 308 regulation of blood pressure extracellular region|stored secretory granule skin(2) 2 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) CCAGCAGAAAGAGGAGGAGGAGG 0.655 NaN NaN NaN NaN NaN NaN 2 4 --- --- UNC13C 440279 broad.mit.edu 37 15 54825189 54825189 + Frame_Shift_Del DEL C C - TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr15:54825189delC uc002ack.2 + 24 5621 c.5621delC c.(5620-5622)ACCfs p.T1874fs NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1874 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AATGGAAACACCACATCTAAT 0.313 NaN NaN NaN NaN NaN NaN 7 4 --- --- AFF3 3899 broad.mit.edu 37 2 100218011 100218013 + In_Frame_Del DEL GCT GCT - TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr2:100218011_100218013delGCT uc002tag.2 - 13 1491_1493 c.1255_1257delAGC c.(1255-1257)AGCdel p.S419del AFF3_uc002taf.2_In_Frame_Del_p.S444del|AFF3_uc010fiq.1_In_Frame_Del_p.S419del|AFF3_uc010yvr.1_In_Frame_Del_p.S572del|AFF3_uc002tah.1_In_Frame_Del_p.S444del NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 419 Poly-Ser. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 tgctgctgccgctgctgctgctg 0.562 NaN NaN NaN NaN NaN NaN 3 6 --- --- CDKN1A 1026 broad.mit.edu 37 6 36652011 36652012 + Frame_Shift_Ins INS - - C TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 - C - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr6:36652011_36652012insC uc003omm.3 + 2 255_256 c.133_134insC c.(133-135)GCCfs p.A45fs CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.A79fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.A45fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.A45fs NM_000389 NP_000380 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A 45 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|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|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1)|breast(1) 2 CATCCAGGAGGCCCGTGAGCGA 0.658 NaN Multiple_Endocrine_Neoplasia_type_1 NaN NaN NaN NaN NaN 20 24 --- --- BHLHE22 27319 broad.mit.edu 37 8 65493618 65493620 + In_Frame_Del DEL GGC GGC - TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr8:65493618_65493620delGGC uc003xvi.2 + 1 805_807 c.271_273delGGC c.(271-273)GGCdel p.G97del LOC401463_uc003xvh.2_Intron NM_152414 NP_689627 Q8NFJ8 BHE22_HUMAN basic helix-loop-helix domain containing, class 97 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 cgcgggaagtggcggcggcggcg 0.586 NaN NaN NaN NaN NaN NaN 2 4 --- --- RIMS2 9699 broad.mit.edu 37 8 104933968 104933968 + Frame_Shift_Del DEL G G - TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c89ce08-ed24-4179-8884-4706660b7da8 acef2a84-c0aa-447e-b57f-0b685260dcdd g.chr8:104933968delG uc003yls.2 + 8 1727 c.1486delG c.(1486-1488)GGAfs p.G496fs RIMS2_uc003ylp.2_Frame_Shift_Del_p.G718fs|RIMS2_uc003ylw.2_Frame_Shift_Del_p.G526fs|RIMS2_uc003ylq.2_Frame_Shift_Del_p.G526fs|RIMS2_uc003ylr.2_Frame_Shift_Del_p.G573fs|RIMS2_uc003ylt.2_Frame_Shift_Del_p.G119fs|RIMS2_uc003ylv.1_Frame_Shift_Del_p.G109fs NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 796 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CATGAGTCCTGGAATGTTGAG 0.348 NaN HNSCC(12;0.0054) NaN NaN NaN NaN NaN 30 54 --- ---