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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut CSMD2 114784 broad.mit.edu 37 1 34071024 34071024 + Silent SNP G G A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr1:34071024G>A uc001bxn.1 - 43 6425 c.6396C>T c.(6394-6396)GGC>GGT p.G2132G CSMD2_uc001bxm.1_Silent_p.G2130G|CSMD2_uc001bxo.1_Silent_p.G1003G NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2132 Sushi 12.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCCTCACAATGCCATTGGCAA 0.507 NA 9 82 0 0 0.058154 0 0 CD34 947 broad.mit.edu 37 1 208073342 208073342 + Missense_Mutation SNP C C T TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr1:208073342C>T uc001hgw.1 - 2 344 c.86G>A c.(85-87)GGG>GAG p.G29E CD34_uc001hgx.1_Missense_Mutation_p.G29E|CD34_uc010psj.1_5'UTR NM_001025109 NP_001020280 P28906 CD34_HUMAN CD34 antigen isoform a 29 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding ovary(1) 1 ACTCATGAACCCAGAAGCTAT 0.423 NA 10 55 0 0 0.058154 0 0 RAG1 5896 broad.mit.edu 37 11 36597479 36597479 + Silent SNP C C T TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr11:36597479C>T uc001mwu.3 + 2 2749 c.2625C>T c.(2623-2625)TCC>TCT p.S875S RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 875 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) TAATTCCTTCCGAGGAGAGGC 0.483 Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363) NA Familial_Hemophagocytic_Lymphohistiocytosis 15 123 0 0 0.0333 0 0 OR5D14 219436 broad.mit.edu 37 11 55563607 55563608 + Missense_Mutation DNP TG TG AT rs144571267 byFrequency TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr11:55563607_55563608TG>AT uc010rim.1 + 1 576_577 c.576_577TG>AT c.(574-579)TCTGAT>TCATAT p.D193Y NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 193 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) TGTCTGGCTCTGATATACTCAT 0.431 NA 34 372 0 0 0.004672 0 0 ALX1 8092 broad.mit.edu 37 12 85677431 85677431 + Missense_Mutation SNP G G A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr12:85677431G>A uc001tae.3 + 2 312 c.308G>A c.(307-309)CGA>CAA p.R103Q NM_006982 NP_008913 Q15699 ALX1_HUMAN cartilage paired-class homeoprotein 1 103 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(134;0.134) AACAGTCTCCGAATGTCTCCC 0.478 NA 10 84 0 0 0.09319 0 0 KLHL1 57626 broad.mit.edu 37 13 70314633 70314633 + Missense_Mutation SNP G G T TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr13:70314633G>T uc001vip.2 - 8 2489 c.1695C>A c.(1693-1695)AGC>AGA p.S565R KLHL1_uc010thm.1_Missense_Mutation_p.S504R NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 565 Kelch 3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TATTCAGATAGCTCCAGCCAT 0.388 NA 10 116 3.86212e-05 4.70171e-05 0.069234 1 0 OR4K17 390436 broad.mit.edu 37 14 20586121 20586121 + Missense_Mutation SNP C C T TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr14:20586121C>T uc001vwo.1 + 1 556 c.556C>T c.(556-558)CAC>TAC p.H186Y NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) GGGTCTCCTTCACTCAGGGTT 0.453 NA 33 285 0 0 0.045705 0 0 OR10G3 26533 broad.mit.edu 37 14 22038086 22038086 + Missense_Mutation SNP C C G TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr14:22038086C>G uc010tmb.1 - 1 790 c.790G>C c.(790-792)GAA>CAA p.E264Q NM_001005465 NP_001005465 Q8NGC4 O10G3_HUMAN olfactory receptor, family 10, subfamily G, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|central_nervous_system(1) 2 all_cancers(95;0.000987) GBM - Glioblastoma multiforme(265;0.0139) CTGTTGGTTTCAGGCCTCAGG 0.582 NA 4 149 0 0 0.009096 0 0 SERPINA6 866 broad.mit.edu 37 14 94780977 94780977 + Silent SNP G G A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr14:94780977G>A uc001ycv.2 - 2 113 c.9C>T c.(7-9)CTC>CTT p.L3L SERPINA6_uc010auv.2_RNA NM_001756 NP_001747 P08185 CBG_HUMAN corticosteroid binding globulin precursor 3 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding skin(3)|ovary(1)|central_nervous_system(1) 5 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) TGTACAGGAGGAGTGGCATTG 0.458 NA 12 143 0 0 0.09319 0 0 MKL2 57496 broad.mit.edu 37 16 14340356 14340356 + Silent SNP G G A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr16:14340356G>A uc010uza.1 + 12 1394 c.1239G>A c.(1237-1239)AAG>AAA p.K413K MKL2_uc002dcg.2_Silent_p.K413K|MKL2_uc002dcj.2_5'Flank NM_014048 NP_054767 Q9ULH7 MKL2_HUMAN megakaryoblastic leukemia 2 protein 402 SAP. cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity ovary(3)|kidney(1)|pancreas(1) 5 CAGAACTGAAGTTAAGGGGTC 0.498 NA 3 75 0 0 0.004672 0 0 CHD9 80205 broad.mit.edu 37 16 53326814 53326814 + Missense_Mutation SNP G G A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr16:53326814G>A uc002ehb.2 + 28 5524 c.5360G>A c.(5359-5361)CGT>CAT p.R1787H CHD9_uc002egy.2_Missense_Mutation_p.R1787H|CHD9_uc002ehc.2_Missense_Mutation_p.R1787H|CHD9_uc002ehf.2_Missense_Mutation_p.R901H|CHD9_uc010cbw.2_Missense_Mutation_p.R155H NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1787 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) CGTTTGAGGCGTCTCATCACT 0.388 NA 26 140 0 0 0.0918 0 0 ITGAE 3682 broad.mit.edu 37 17 3638115 3638115 + Missense_Mutation SNP T T A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr17:3638115T>A uc002fwo.3 - 21 2750 c.2651A>T c.(2650-2652)CAA>CTA p.Q884L NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 884 Extracellular (Potential). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) AGTCACCTTTTGCATCCTCTT 0.557 NSCLC(182;635 2928 8995 38788) NA 27 243 0 0 0.108266 0 0 POLR2A 5430 broad.mit.edu 37 17 7416688 7416688 + Missense_Mutation SNP C C T TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr17:7416688C>T uc002ghf.3 + 29 5339 c.5105C>T c.(5104-5106)ACA>ATA p.T1702I NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 1702 16.|52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN]. mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) tactcaccgacatctcccagc 0 NA 5 19 0 0 0.014758 0 0 SEPT4 5414 broad.mit.edu 37 17 56606477 56606477 + Missense_Mutation SNP C C A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr17:56606477C>A uc002iwm.1 - 1 187 c.59G>T c.(58-60)GGG>GTG p.G20V SEPT4_uc002iwk.1_5'Flank|SEPT4_uc010wnw.1_5'Flank|SEPT4_uc002iwl.1_5'Flank|SEPT4_uc002iwn.1_Missense_Mutation_p.G20V|SEPT4_uc002iwo.1_Intron|SEPT4_uc002iwp.1_Intron|SEPT4_uc010wnx.1_Intron|SEPT4_uc010wny.1_Intron|SEPT4_uc010dcy.1_Intron NM_004574 NP_004565 O43236 SEPT4_HUMAN septin 4 isoform 1 20 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity 0 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCACCTTACCCCAGCTTCAGT 0.552 NA 5 83 0.00116845 0.00139219 0.021553 1 0 BCAS3 54828 broad.mit.edu 37 17 59024579 59024579 + Splice_Site SNP G G T TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr17:59024579G>T uc002iyv.3 + 14 1197 c.1088_splice c.e14-1 p.G363_splice BCAS3_uc010wow.1_Splice_Site_p.G150_splice|BCAS3_uc002iyu.3_Splice_Site_p.G363_splice|BCAS3_uc002iyw.3_Splice_Site_p.G359_splice|BCAS3_uc002iyx.1_Splice_Site_p.G178_splice|BCAS3_uc002iyy.3_Splice_Site_p.G134_splice NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 isoform 1 nucleus ovary(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TTGTCTTCCAGGAATGCTTCT 0.353 NA 24 250 1.77063e-15 2.25353e-15 0.108266 1 0 MC5R 4161 broad.mit.edu 37 18 13826014 13826014 + Silent SNP C C T TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr18:13826014C>T uc010xaf.1 + 1 250 c.250C>T c.(250-252)CTG>TTG p.L84L NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 84 Helical; Name=2; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 GGCGGACATGCTGGTGAGCAT 0.522 NA 3 53 0 0 0.004672 0 0 U2AF2 11338 broad.mit.edu 37 19 56173908 56173908 + Missense_Mutation SNP G G A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr19:56173908G>A uc002qlu.2 + 6 1582 c.527G>A c.(526-528)GGG>GAG p.G176E U2AF2_uc002qlt.2_Missense_Mutation_p.G176E NM_007279 NP_009210 P26368 U2AF2_HUMAN U2 (RNU2) small nuclear RNA auxiliary factor 2 176 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding ovary(1) 1 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) ATGCGCCTGGGGGGGCTGACC 0.458 NA 4 81 0 0 0.014758 0 0 TTN 7273 broad.mit.edu 37 2 179440815 179440815 + Silent SNP G G A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr2:179440815G>A uc010zfg.1 - 275 62564 c.62340C>T c.(62338-62340)GCC>GCT p.A20780A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A14475A|TTN_uc010zfi.1_Silent_p.A14408A|TTN_uc010zfj.1_Silent_p.A14283A|uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21707 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) TTCGAAGCTCGGCATCTAGTT 0.468 NA 15 156 0 0 0.024245 0 0 PMS1 5378 broad.mit.edu 37 2 190742066 190742066 + Missense_Mutation SNP C C G TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr2:190742066C>G uc002urh.3 + 13 3232 c.2703C>G c.(2701-2703)ATC>ATG p.I901M PMS1_uc002urk.3_Missense_Mutation_p.I862M|PMS1_uc002uri.3_Missense_Mutation_p.I739M|PMS1_uc010zgc.1_Missense_Mutation_p.I725M|PMS1_uc010zgd.1_Missense_Mutation_p.I725M|PMS1_uc002urj.2_RNA|PMS1_uc010frz.2_Missense_Mutation_p.I217M|PMS1_uc002url.2_Missense_Mutation_p.I524M|PMS1_uc002urm.2_RNA NM_000534 NP_000525 P54277 PMS1_HUMAN postmeiotic segregation 1 isoform a 901 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) AAGACATTATCTACAGAATGA 0.378 NA Mis|N colorectal|endometrial|ovarian Direct_reversal_of_damage|MMR 12 116 0 0 0.080935 0 0 HIRA 7290 broad.mit.edu 37 22 19398295 19398295 + Missense_Mutation SNP G G A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr22:19398295G>A uc002zpf.1 - 2 264 c.44C>T c.(43-45)CCG>CTG p.P15L HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Missense_Mutation_p.P15L|HIRA_uc010gro.1_5'UTR|HIRA_uc010grp.2_RNA NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 15 WD 1. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) TGAAAAAATCGGCTTGCCTGG 0.378 NA 34 293 0 0 0.074837 0 0 BPIL2 254240 broad.mit.edu 37 22 32833811 32833811 + Missense_Mutation SNP A A T TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr22:32833811A>T uc003amn.2 - 7 683 c.683T>A c.(682-684)CTG>CAG p.L228Q BPIL2_uc010gwo.2_Missense_Mutation_p.L42Q|BPIL2_uc011amb.1_5'UTR NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN bactericidal/permeability-increasing 228 extracellular region lipopolysaccharide binding|phospholipid binding ovary(1)|skin(1) 2 GTAATCCAGCAGAGTGTAGTT 0.343 NA 8 79 0 0 0.047766 0 0 RASA2 5922 broad.mit.edu 37 3 141295935 141295935 + Missense_Mutation SNP G G A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr3:141295935G>A uc003etz.1 + 15 1577 c.1577G>A c.(1576-1578)CGA>CAA p.R526Q RASA2_uc010huq.1_Missense_Mutation_p.R526Q|RASA2_uc003eua.1_Missense_Mutation_p.R526Q|RASA2_uc011bnc.1_Missense_Mutation_p.R118Q NM_006506 NP_006497 Q15283 RASA2_HUMAN RAS p21 protein activator 2 526 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity ovary(2)|lung(2)|breast(1)|skin(1) 6 TTTCATTTGCGACCTCATCAT 0.343 NA 21 204 0 0 0.099896 0 0 SLC9A9 285195 broad.mit.edu 37 3 143550932 143550932 + Nonsense_Mutation SNP C C A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr3:143550932C>A uc003evn.2 - 2 489 c.307G>T c.(307-309)GAA>TAA p.E103* SLC9A9_uc011bnk.1_Intron NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 103 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 TATTTATATTCATAAACTTGG 0.338 NA 17 144 3.45872e-05 4.30418e-05 0.028581 1 0 CDC23 8697 broad.mit.edu 37 5 137527959 137527959 + Nonsense_Mutation SNP G G A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr5:137527959G>A uc003lcl.2 - 11 1316 c.1285C>T c.(1285-1287)CGA>TGA p.R429* NM_004661 NP_004652 Q9UJX2 CDC23_HUMAN cell division cycle protein 23 429 TPR 7. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis anaphase-promoting complex|cytosol|nucleoplasm binding|ubiquitin-protein ligase activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CAGGCTTACCGAAGCTGGTGG 0.438 NA 18 97 0 0 0.0333 0 0 PCDH1 5097 broad.mit.edu 37 5 141233671 141233671 + Missense_Mutation SNP G G A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr5:141233671G>A uc003llp.2 - 5 3767 c.3650C>T c.(3649-3651)TCG>TTG p.S1217L NM_032420 NP_115796 Q08174 PCDH1_HUMAN protocadherin 1 isoform 2 precursor Error:Variant_position_missing_in_Q08174_after_alignment cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding ovary(5) 5 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) TGGGAAGTCCGAGGTCTGGGT 0.677 Ovarian(132;1609 1739 4190 14731 45037) NA 4 14 0 0 0.014758 0 0 CDKAL1 54901 broad.mit.edu 37 6 20758841 20758841 + Missense_Mutation SNP C C T TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr6:20758841C>T uc003ndc.1 + 7 658 c.484C>T c.(484-486)CGT>TGT p.R162C CDKAL1_uc003ndd.1_Missense_Mutation_p.R162C|CDKAL1_uc003nde.1_Missense_Mutation_p.R92C NM_017774 NP_060244 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 162 MTTase N-terminal. RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity ovary(2) 2 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) GCAGATAGATCGTGTGGTAGA 0.328 NA 7 66 0 0 0.047766 0 0 SLC17A1 6568 broad.mit.edu 37 6 25813423 25813423 + Missense_Mutation SNP A A G TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr6:25813423A>G uc003nfh.3 - 7 751 c.635T>C c.(634-636)GTA>GCA p.V212A SLC17A1_uc011djy.1_Intron|SLC17A1_uc010jqb.1_Missense_Mutation_p.V210A|SLC17A1_uc010jqc.1_Missense_Mutation_p.V210A NM_005074 NP_005065 Q14916 NPT1_HUMAN solute carrier family 17 (sodium phosphate), 212 Helical; (Potential). sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(3)|pancreas(1) 4 GAGAAGACATACGGCACAGCC 0.438 NA 5 40 0 0 0.02938 0 0 PHF1 5252 broad.mit.edu 37 6 33380553 33380553 + Missense_Mutation SNP G G A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr6:33380553G>A uc003oeh.2 + 4 556 c.320G>A c.(319-321)TGT>TAT p.C107Y PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Missense_Mutation_p.C107Y|PHF1_uc010jux.2_Intron NM_024165 NP_077084 O43189 PHF1_HUMAN PHD finger protein 1 isoform b 107 PHD-type 1. chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(999;0.0443) CTGGTCAGCTGTGAGAAGTGT 0.577 NA 7 103 0 0 0.038147 0 0 TMEM106B 54664 broad.mit.edu 37 7 12270022 12270022 + Missense_Mutation SNP A A G TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr7:12270022A>G uc011jxk.1 + 7 990 c.590A>G c.(589-591)TAC>TGC p.Y197C TMEM106B_uc003ssh.2_Missense_Mutation_p.Y197C NM_018374 NP_060844 Q9NUM4 T106B_HUMAN transmembrane protein 106B 197 Y -> N (in Ref. 2; BAD96983). integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (126;0.185) CAGATTGATTACACAGTACCT 0.264 NA 8 114 0 0 0.038147 0 0 EGFR 1956 broad.mit.edu 37 7 55210075 55210075 + Missense_Mutation SNP T T G TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr7:55210075T>G uc003tqk.2 + 2 431 c.185T>G c.(184-186)CTT>CGT p.L62R EGFR_uc003tqh.2_Missense_Mutation_p.L62R|EGFR_uc003tqi.2_Missense_Mutation_p.L62R|EGFR_uc003tqj.2_Missense_Mutation_p.L62R|EGFR_uc010kzg.1_Missense_Mutation_p.L62R|EGFR_uc011kco.1_Missense_Mutation_p.L9R NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 62 Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5)|p.L62R(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GAGGTGGTCCTTGGGAATTTG 0.408 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 35 194 0 0 0.059317 0 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr7:55259515T>G uc003tqk.2 + 21 2819 c.2573T>G c.(2572-2574)CTG>CGG p.L858R EGFR_uc010kzg.1_Missense_Mutation_p.L813R|EGFR_uc011kco.1_Missense_Mutation_p.L805R|uc003tqo.2_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 858 Cytoplasmic (Potential).|Protein kinase. L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).|L -> M (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L858R(3429)|p.L858L(4)|p.L858M(4)|p.L858Q(3)|p.L858A(2)|p.L858W(1)|p.L858P(1)|p.L858K(1)|p.L858G(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATTTTGGGCTGGCCAAACTG 0.537 L858R(NCIH1975_LUNG) 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 14 101 0 0 0.0333 0 0 Unknown 0 broad.mit.edu 37 7 100608884 100608884 + Missense_Mutation SNP G G A rs73163797 by1000genomes TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr7:100608884G>A uc003uxl.1 + 7 2763 c.1963G>A c.(1963-1965)GCG>ACG p.A655T uc003uxm.1_RNA|uc003uxn.1_Intron|uc010lhn.1_RNA SubName: Full=Intestinal mucin; Flags: Fragment; p.A755T(1) NA GAGCGGTCCCGCGTGTCGGTA 0.667 NA 3 9 0 0 0.014758 0 0 ZNF425 155054 broad.mit.edu 37 7 148800831 148800831 + Missense_Mutation SNP G G A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr7:148800831G>A uc003wfj.2 - 4 2205 c.2132C>T c.(2131-2133)GCC>GTC p.A711V NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN zinc finger protein 425 711 C2H2-type 18. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(2)|ovary(1) 3 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GCACAGATGGGCCTTCAGGCT 0.557 NA 23 94 0 0 0.083992 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885731 88885731 + Missense_Mutation SNP C C T TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr8:88885731C>T uc003ydz.2 - 1 566 c.469G>A c.(469-471)GTG>ATG p.V157M NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 157 ovary(1) 1 GGGAGCAGCACGGCACAGCTT 0.552 NA 7 109 0 0 0.038147 0 0 MXRA5 25878 broad.mit.edu 37 X 3235707 3235707 + Silent SNP G G A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chrX:3235707G>A uc004crg.3 - 6 6172 c.6015C>T c.(6013-6015)CAC>CAT p.H2005H NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2005 Ig-like C2-type 4. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCCGGTTTTCGTGCAGGGTGA 0.622 NA 6 43 0 0 0.02938 0 0 DMD 1756 broad.mit.edu 37 X 31496381 31496381 + Nonsense_Mutation SNP T T A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chrX:31496381T>A uc004dda.1 - 59 9023 c.8779A>T c.(8779-8781)AGA>TGA p.R2927* DMD_uc004dcq.1_Nonsense_Mutation_p.R198*|DMD_uc004dcr.1_Nonsense_Mutation_p.R467*|DMD_uc004dcs.1_Nonsense_Mutation_p.R467*|DMD_uc004dct.1_Nonsense_Mutation_p.R467*|DMD_uc004dcu.1_Nonsense_Mutation_p.R467*|DMD_uc004dcv.1_Nonsense_Mutation_p.R467*|DMD_uc004dcw.2_Nonsense_Mutation_p.R1583*|DMD_uc004dcx.2_Nonsense_Mutation_p.R1586*|DMD_uc004dcz.2_Nonsense_Mutation_p.R2804*|DMD_uc004dcy.1_Nonsense_Mutation_p.R2923*|DMD_uc004ddb.1_Nonsense_Mutation_p.R2919* NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2927 Spectrin 21. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCTATTTTTCTCTGCCAGTCA 0.527 NA 10 125 0 0 0.058154 0 0 G6PD 2539 broad.mit.edu 37 X 153764207 153764207 + Missense_Mutation SNP G G A TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chrX:153764207G>A uc004fly.1 - 4 325 c.212C>T c.(211-213)GCC>GTC p.A71V G6PD_uc004flx.1_Missense_Mutation_p.A101V NM_001042351 NP_001035810 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase isoform b 71 cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity ovary(4) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCGGGAACGGGCATAGCCCAC 0.627 NA 4 56 0 0 0.009096 0 0 MYH3 4621 broad.mit.edu 37 17 10542739 10542739 + Frame_Shift_Del DEL A A - TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr17:10542739delA uc002gmq.1 - 23 3055 c.2978delT c.(2977-2979)TTAfs p.L993fs NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 993 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 CTCTCTGGTTAACTTTGCAAT 0.413 NA 11 90 --- --- --- --- NA NA NA NA NA RUNDC1 146923 broad.mit.edu 37 17 41132982 41132982 + Frame_Shift_Del DEL C C - TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr17:41132982delC uc002ici.1 + 1 401 c.389delC c.(388-390)GCCfs p.A130fs AARSD1_uc002icd.2_5'Flank|AARSD1_uc002ice.2_5'Flank|AARSD1_uc002icf.2_5'Flank|AARSD1_uc010whg.1_5'Flank|AARSD1_uc002icg.2_5'Flank|AARSD1_uc002ich.2_5'Flank|AARSD1_uc010whh.1_5'Flank|RUNDC1_uc010whi.1_5'UTR NM_173079 NP_775102 Q96C34 RUND1_HUMAN RUN domain containing 1 130 0 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) GAAGACTTCGCCTTCCGCGGC 0.726 NA 2 4 --- --- --- --- NA NA NA NA NA C8orf59 401466 broad.mit.edu 37 8 86129664 86129664 + Frame_Shift_Del DEL T T - TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr8:86129664delT uc010mac.1 - 3 305 c.65delA c.(64-66)AACfs p.N22fs C8orf59_uc003ydd.2_Frame_Shift_Del_p.N22fs|C8orf59_uc010mad.1_Frame_Shift_Del_p.N22fs|C8orf59_uc003yde.2_Frame_Shift_Del_p.N22fs|C8orf59_uc011lfu.1_RNA NM_001099670 NP_001093140 Q8N0T1 CH059_HUMAN hypothetical protein LOC401466 22 0 AGCCTTAAAGTTTTTTTGGCT 0.343 NA 8 261 --- --- --- --- NA NA NA NA NA PHF20L1 51105 broad.mit.edu 37 8 133855032 133855032 + Frame_Shift_Del DEL T T - TCGA-38-4627-01A-01D-1553-08 TCGA-38-4627-11A-01D-1553-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq abef97da-d7db-495f-b594-fa66577becd6 21d49f80-fd21-421f-a3bd-5f39b1ac3e48 g.chr8:133855032delT uc003ytt.2 + 19 2985 c.2660delT c.(2659-2661)GTTfs p.V887fs PHF20L1_uc011lja.1_Frame_Shift_Del_p.V861fs NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 887 nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GATGATGATGTTAGTAGTTTG 0.383 NA 18 208 --- --- --- --- NA NA NA NA NA