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 ARID1A 8289 broad.mit.edu 37 1 27056307 27056307 + Nonsense_Mutation SNP C C T TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr1:27056307C>T uc001bmv.1 + 2 1676 c.1303C>T c.(1303-1305)CAG>TAG p.Q435* ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q435*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q435*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q52* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 435 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) GATGACCATGCAGGGCCGGGC 0.597 NA Mis|N|F|S|D clear cell ovarian carcinoma|RCC 13 19 0 0 0.105934 0 0 DNA2 1763 broad.mit.edu 37 10 70192040 70192040 + Missense_Mutation SNP C C T TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr10:70192040C>T uc001jof.2 - 12 2054 c.2054G>A c.(2053-2055)CGT>CAT p.R685H DNA2_uc001jog.1_Missense_Mutation_p.R599H|DNA2_uc001joh.1_RNA NM_001080449 NP_001073918 P51530 DNA2L_HUMAN DNA replication helicase 2 homolog 599 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base 0 CTGAGGTTCACGAAAGTCAAT 0.343 NA 33 102 0 0 0.173368 0 0 TMTC1 83857 broad.mit.edu 37 12 29670381 29670381 + Missense_Mutation SNP C C G TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr12:29670381C>G uc001rjb.2 - 14 2298 c.1824G>C c.(1822-1824)CAG>CAC p.Q608H TMTC1_uc001riz.2_Missense_Mutation_p.Q365H|TMTC1_uc001rja.2_Missense_Mutation_p.Q452H|TMTC1_uc001riy.2_Missense_Mutation_p.Q61H NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 716 TPR 7. integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GGAGCTCCCTCTGAGAAGGCT 0.507 NA 21 56 0 0 0.234183 0 0 LRP1 4035 broad.mit.edu 37 12 57572723 57572723 + Missense_Mutation SNP T T G TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr12:57572723T>G uc001snd.2 + 28 5123 c.4657T>G c.(4657-4659)TGT>GGT p.C1553G NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 1553 EGF-like 7.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTCCCACCTGTGTCTCATCAA 0.617 NA 27 67 0 0 0.099896 0 0 MPP5 64398 broad.mit.edu 37 14 67746041 67746041 + Missense_Mutation SNP C C G TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr14:67746041C>G uc001xjc.2 + 3 620 c.154C>G c.(154-156)CGA>GGA p.R52G MPP5_uc001xjd.2_Missense_Mutation_p.R18G|MPP5_uc001xjb.1_Missense_Mutation_p.R52G NM_022474 NP_071919 Q8N3R9 MPP5_HUMAN membrane protein, palmitoylated 5 52 Interaction with PARD6B (By similarity). tight junction assembly cytoplasm|endomembrane system|tight junction protein domain specific binding ovary(1) 1 all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106) GCCAATACGTCGAAGTGCACA 0.478 NA 16 43 0 0 0.146539 0 0 THBS1 7057 broad.mit.edu 37 15 39880808 39880808 + Missense_Mutation SNP T T G TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr15:39880808T>G uc001zkh.2 + 10 1732 c.1553T>G c.(1552-1554)CTC>CGC p.L518R THBS1_uc010bbi.2_5'UTR NM_003246 NP_003237 P07996 TSP1_HUMAN thrombospondin 1 precursor 518 TSP type-1 3. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding ovary(3)|central_nervous_system(3) 6 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) CGTAGTCGTCTCTGCAACAAC 0.522 NA 11 23 0 0 0.080935 0 0 GRIN2A 2903 broad.mit.edu 37 16 10274214 10274214 + Missense_Mutation SNP G G A TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr16:10274214G>A uc002czo.3 - 2 603 c.55C>T c.(55-57)CGC>TGC p.R19C GRIN2A_uc010uym.1_Missense_Mutation_p.R19C|GRIN2A_uc002czr.3_Missense_Mutation_p.R19C|GRIN2A_uc010buk.2_Missense_Mutation_p.R19C NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 19 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCCGGACCGCGCCAGACCAGA 0.667 NA 5 27 0 0 0.217242 0 0 SNX29 92017 broad.mit.edu 37 16 12662416 12662416 + Missense_Mutation SNP G G T TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr16:12662416G>T uc002dby.3 + 14 1273 c.1217G>T c.(1216-1218)CGC>CTC p.R406L NM_001080530 NP_001073999 Q8TEQ0 SNX29_HUMAN sorting nexin 29 406 cell communication phosphatidylinositol binding ovary(1) 1 GCAGCTTCCCGCTTCCCCAAA 0.637 NA 8 37 0.000274275 0.000284249 0.047766 1 0 CPPED1 55313 broad.mit.edu 37 16 12798545 12798545 + Silent SNP G G A TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr16:12798545G>A uc002dca.3 - 3 762 c.651C>T c.(649-651)GAC>GAT p.D217D CPPED1_uc002dcb.3_Intron|CPPED1_uc002dbz.3_RNA NM_018340 NP_060810 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain 217 hydrolase activity|metal ion binding 0 AGTAGTAGTCGTCGTCCTCGT 0.607 NA 23 58 0 0 0.099896 0 0 DNAH3 55567 broad.mit.edu 37 16 20996705 20996705 + Silent SNP G G A TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr16:20996705G>A uc010vbe.1 - 48 7359 c.7359C>T c.(7357-7359)TAC>TAT p.Y2453Y DNAH3_uc010vbd.1_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2453 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GGTATAGCTCGTATGCGTTCA 0.552 NA 6 19 0 0 0.217242 0 0 ERN2 10595 broad.mit.edu 37 16 23716365 23716365 + Silent SNP G G T TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr16:23716365G>T uc002dma.3 - 8 1006 c.837C>A c.(835-837)GGC>GGA p.G279G ERN2_uc010bxp.2_Silent_p.G279G|ERN2_uc010bxq.1_Silent_p.G87G NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 231 Lumenal (Potential). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AGGTGTAGACGCCCATCACAG 0.677 NA 11 27 1.58986e-06 1.67819e-06 0.069234 1 0 ALDOA 226 broad.mit.edu 37 16 30078933 30078933 + Missense_Mutation SNP G G A TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr16:30078933G>A uc002dvw.2 + 6 1403 c.275G>A c.(274-276)CGT>CAT p.R92H uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.2_Missense_Mutation_p.R92H|ALDOA_uc002dvy.2_Missense_Mutation_p.R92H|ALDOA_uc002dvz.2_Missense_Mutation_p.R92H|ALDOA_uc002dwa.3_Missense_Mutation_p.R92H|ALDOA_uc002dwb.1_Missense_Mutation_p.R92H|ALDOA_uc002dwc.2_Missense_Mutation_p.R92H|ALDOA_uc010veg.1_Missense_Mutation_p.R146H|ALDOA_uc002dwd.2_Missense_Mutation_p.R92H NM_184043 NP_908932 P04075 ALDOA_HUMAN fructose-bisphosphate aldolase A 92 actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding lung(1) 1 GATGATGGGCGTCCCTTCCCC 0.582 NA 19 51 0 0 0.234183 0 0 NECAB2 54550 broad.mit.edu 37 16 84035515 84035515 + Missense_Mutation SNP G G A TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr16:84035515G>A uc002fhd.2 + 12 1143 c.1126G>A c.(1126-1128)GTG>ATG p.V376M NECAB2_uc002fhe.2_Missense_Mutation_p.V293M NM_019065 NP_061938 Q7Z6G3 NECA2_HUMAN neuronal calcium-binding protein 2 376 ABM. antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity|protein binding ovary(2) 2 CAGGATCTTGGTGCCAGGTAG 0.637 NA 12 20 0 0 0.09319 0 0 PPP1R1B 84152 broad.mit.edu 37 17 37785471 37785471 + Missense_Mutation SNP C C T TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr17:37785471C>T uc002hrz.2 + 2 597 c.130C>T c.(130-132)CAC>TAC p.H44Y PPP1R1B_uc002hsa.2_Missense_Mutation_p.H44Y|PPP1R1B_uc010cvx.2_Missense_Mutation_p.H44Y|PPP1R1B_uc002hsb.2_Missense_Mutation_p.H8Y|PPP1R1B_uc002hsc.2_Missense_Mutation_p.H8Y NM_032192 NP_115568 Q9UD71 PPR1B_HUMAN protein phosphatase 1, regulatory (inhibitor) 44 signal transduction cytosol protein kinase inhibitor activity|protein phosphatase inhibitor activity 0 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GCTCTCAGAGCACTCCTCACC 0.637 NA 37 56 0 0 0.257332 0 0 DHX58 79132 broad.mit.edu 37 17 40257096 40257096 + Silent SNP G G A TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr17:40257096G>A uc002hyw.3 - 10 1564 c.1341C>T c.(1339-1341)ATC>ATT p.I447I DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Silent_p.I440I NM_024119 NP_077024 Q96C10 DHX58_HUMAN RNA helicase LGP2 447 Helicase C-terminal. innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding 0 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) TGCAATGTGGGATGTCCAGCC 0.557 NA 4 41 0 0 0.217242 0 0 C18orf34 374864 broad.mit.edu 37 18 30928852 30928852 + Splice_Site SNP A A G rs140419270 byFrequency TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr18:30928852A>G uc002kxn.2 - 7 599 c.457_splice c.e7+1 p.D153_splice C18orf34_uc010xbr.1_Splice_Site_p.D153_splice|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Splice_Site_p.D153_splice|C18orf34_uc002kxp.2_Splice_Site_p.D153_splice NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 ovary(1) 1 GAACAACTTTACCTCTCTTTT 0.323 NA 3 17 0 0 0.115264 0 0 COL5A3 50509 broad.mit.edu 37 19 10080323 10080323 + Silent SNP C C T TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr19:10080323C>T uc002mmq.1 - 56 4112 c.4026G>A c.(4024-4026)ACG>ACA p.T1342T NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1342 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) CCATTGGACCCGTCCTCCCTG 0.682 NA 5 19 0 0 0.184627 0 0 TEX101 83639 broad.mit.edu 37 19 43922333 43922333 + Silent SNP G G A rs151129496 TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr19:43922333G>A uc010xwo.1 + 6 729 c.534G>A c.(532-534)TCG>TCA p.S178S TEX101_uc002owk.2_Silent_p.S196S NM_001130011 NP_001123483 Q9BY14 TX101_HUMAN testis expressed 101 isoform 2 178 anchored to membrane|plasma membrane ovary(1) 1 Prostate(69;0.0199) GCATTGAGTCGTCTGTGGAGG 0.522 NA 27 75 0 0 0.099896 0 0 ATAD2B 54454 broad.mit.edu 37 2 24103532 24103532 + Missense_Mutation SNP T T A TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr2:24103532T>A uc002rek.3 - 7 1172 c.878A>T c.(877-879)GAT>GTT p.D293V ATAD2B_uc010yki.1_RNA|ATAD2B_uc010exx.1_Missense_Mutation_p.D307V NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 293 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGGTATCGATCCACTGTTTT 0.358 NA 7 12 0 0 0.248553 0 0 FSHR 2492 broad.mit.edu 37 2 49195904 49195904 + Missense_Mutation SNP C C T TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr2:49195904C>T uc002rww.2 - 9 861 c.787G>A c.(787-789)GCC>ACC p.A263T FSHR_uc002rwx.2_Intron|FSHR_uc010fbn.2_Missense_Mutation_p.A237T NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 263 Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) TCCATGAGGGCGACAAGCTTT 0.498 NA Gonadal_Dysgenesis_46_XX 15 41 0 0 0.11911 0 0 PROKR1 10887 broad.mit.edu 37 2 68882446 68882446 + Missense_Mutation SNP G G A TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr2:68882446G>A uc010yqj.1 + 2 920 c.920G>A c.(919-921)CGC>CAC p.R307H PROKR1_uc002ses.2_RNA NM_138964 NP_620414 Q8TCW9 PKR1_HUMAN G protein-coupled receptor 73 307 Extracellular (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(1) 1 ACCATCGTGCGCGACTTCTTC 0.577 NA 14 34 0 0 0.11911 0 0 EGR4 1961 broad.mit.edu 37 2 73518784 73518784 + Missense_Mutation SNP C C T TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr2:73518784C>T uc010yrj.1 - 2 1646 c.1571G>A c.(1570-1572)CGC>CAC p.R524H EGR4_uc010yrk.1_Missense_Mutation_p.R523H NM_001965 NP_001956 Q05215 EGR4_HUMAN early growth response 4 420 intracellular nucleic acid binding|zinc ion binding 0 GTGGTCGCTGCGGCTGAAGTT 0.657 NA 11 43 0 0 0.080935 0 0 TTN 7273 broad.mit.edu 37 2 179437059 179437059 + Silent SNP G G A TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr2:179437059G>A uc010zfg.1 - 275 66320 c.66096C>T c.(66094-66096)GGC>GGT p.G22032G uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G15727G|TTN_uc010zfi.1_Silent_p.G15660G|TTN_uc010zfj.1_Silent_p.G15535G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22959 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) GCAGCCCAATGCCATATTCAT 0.448 NA 16 33 0 0 0.132662 0 0 COL6A3 1293 broad.mit.edu 37 2 238289959 238289959 + Missense_Mutation SNP A A G TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr2:238289959A>G uc002vwl.2 - 5 1781 c.1496T>C c.(1495-1497)TTC>TCC p.F499S COL6A3_uc002vwo.2_Missense_Mutation_p.F293S|COL6A3_uc010znj.1_Missense_Mutation_p.F92S|COL6A3_uc002vwq.2_Missense_Mutation_p.F293S|COL6A3_uc002vwr.2_Missense_Mutation_p.F92S|COL6A3_uc010znk.1_Missense_Mutation_p.F499S NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 499 VWFA 3.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ATGGGTATTGAAATAAAATTC 0.502 NA 39 118 0 0 0.268233 0 0 EYA2 2139 broad.mit.edu 37 20 45808545 45808545 + Missense_Mutation SNP A A G TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr20:45808545A>G uc002xsm.2 + 13 1672 c.1298A>G c.(1297-1299)AAC>AGC p.N433S EYA2_uc010ghp.2_Intron|EYA2_uc002xsn.2_Missense_Mutation_p.N438S|EYA2_uc002xso.2_Missense_Mutation_p.N433S|EYA2_uc002xsp.2_Missense_Mutation_p.N433S|EYA2_uc002xsq.2_Missense_Mutation_p.N403S NM_005244 NP_005235 O00167 EYA2_HUMAN eyes absent 2 isoform a 433 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity ovary(1) 1 Myeloproliferative disorder(115;0.0241) AAGGCACTAAACCTCATCAAC 0.567 Pancreas(120;56 1725 18501 25218 43520) NA 6 14 0 0 0.248553 0 0 PCK1 5105 broad.mit.edu 37 20 56137755 56137755 + Missense_Mutation SNP G G A rs150560473 TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr20:56137755G>A uc002xyn.3 + 4 573 c.410G>A c.(409-411)CGC>CAC p.R137H PCK1_uc010zzm.1_Intron NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 137 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CCTGTAGGTCGCACCATGTAC 0.562 NA 9 18 0 0 0.047766 0 0 CAMK1 8536 broad.mit.edu 37 3 9801424 9801424 + Missense_Mutation SNP G G T TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr3:9801424G>T uc003bst.2 - 9 934 c.756C>A c.(754-756)TTC>TTA p.F252L OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_Missense_Mutation_p.F26L|uc003bsv.1_5'Flank NM_003656 NP_003647 Q14012 KCC1A_HUMAN calcium/calmodulin-dependent protein kinase I 252 Protein kinase. cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(1)|skin(1) 2 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) AGTGCCGGATGAAATCTTTGG 0.522 NA 56 130 4.6707e-30 5.0232e-30 0.139131 1 0 SCN10A 6336 broad.mit.edu 37 3 38791573 38791573 + Missense_Mutation SNP C C T rs151303346 byFrequency TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr3:38791573C>T uc003ciq.2 - 12 1858 c.1858G>A c.(1858-1860)GTC>ATC p.V620I NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 620 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCCTCAAGGACGGAGGTTATG 0.458 NA 6 16 0 0 0.248553 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266137 41266137 + Missense_Mutation SNP C C T rs121913409 TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr3:41266137C>T uc010hia.1 + 4 290 c.134C>T c.(133-135)TCT>TTT p.S45F CTNNB1_uc003ckp.2_Missense_Mutation_p.S45F|CTNNB1_uc003ckq.2_Missense_Mutation_p.S45F|CTNNB1_uc003ckr.2_Missense_Mutation_p.S45F|CTNNB1_uc011azf.1_Missense_Mutation_p.S38F|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 45 Missing (in colorectal cancer).|S -> P (in hepatocellular carcinoma).|S -> F (in hepatocellular carcinoma). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.S45F(396)|p.S45P(163)|p.S45del(79)|p.A5_A80del(63)|p.S45Y(21)|p.S45C(18)|p.S45A(10)|p.H24_S47del(9)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.W25_I140del(4)|p.V22_L139>V(2)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.?(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q72del(1)|p.A20_Q143del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.A43_E54del(1)|p.S45_S47>C(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.A5_G80>(1)|p.Q28_Q61del(1)|p.D6_K133del(1)|p.A43_E53del(1)|p.M8_G50del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.A5_D144>D(1)|p.P44_N51del(1)|p.P44_S45>AP(1)|p.V22_G80>NNNNN(1)|p.V22_A80del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.S45fs*2(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.W25_A80del(1)|p.A5_R90del(1)|p.H24_M131del(1)|p.S45E(1)|p.A20_R151del(1)|p.D17_A126del(1)|p.M8_A80del(1)|p.P44_S45insGATTTAP(1)|p.K19_Y142>V(1)|p.A5_E54del(1)|p.L7_I140del(1)|p.S45T(1)|p.A21_A80del(1)|p.E9_I140del(1)|p.S45S(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.G38_S45del(1)|p.E9_A80del(1)|p.D6_I140del(1)|p.S23_I140del(1)|p.A20_L148del(1)|p.Q28_I140del(1)|p.S45_E54del(1)|p.A20_Q72del(1)|p.D17_P128del(1)|p.A20_S111del(1)|p.E9_S47del(1)|p.Y30_A80del(1) CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) ACAGCTCCTTCTCTGAGTGGT 0.498 Colon(6;3 56 14213 18255) S45F(HCC15_LUNG)|S45F(LS180_LARGE_INTESTINE) 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of 9 32 0 0 0.058154 0 0 SNRK 54861 broad.mit.edu 37 3 43381980 43381980 + Silent SNP C C T TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr3:43381980C>T uc003cms.3 + 5 1265 c.933C>T c.(931-933)GAC>GAT p.D311D SNRK_uc003cmt.3_Silent_p.D311D|SNRK_uc010hik.2_Silent_p.D311D|SNRK_uc011azr.1_Silent_p.D105D NM_017719 NP_060189 Q9NRH2 SNRK_HUMAN SNF related kinase 311 UBA. myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(3)|stomach(1)|breast(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) CGGATCGAGACGCCATTGTAG 0.488 NA 8 21 0 0 0.058154 0 0 BSN 8927 broad.mit.edu 37 3 49693126 49693126 + Missense_Mutation SNP G G A TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr3:49693126G>A uc003cxe.3 + 5 6251 c.6137G>A c.(6136-6138)CGT>CAT p.R2046H NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 2046 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) ACGGACCTGCGTCATCCTACA 0.587 NA 25 97 0 0 0.116897 0 0 BOC 91653 broad.mit.edu 37 3 112998136 112998136 + Silent SNP C C T TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr3:112998136C>T uc003dzx.2 + 12 2475 c.1854C>T c.(1852-1854)TCC>TCT p.S618S BOC_uc003dzy.2_Silent_p.S618S|BOC_uc003dzz.2_Silent_p.S619S|BOC_uc003eab.2_Silent_p.S319S|BOC_uc003eac.2_5'Flank NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 618 Fibronectin type-III 2.|Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) CCACGGCCTCCGAGACCTCAG 0.572 NA 12 23 0 0 0.09319 0 0 ADCY5 111 broad.mit.edu 37 3 123021953 123021953 + Silent SNP G G A TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr3:123021953G>A uc003egh.1 - 14 2673 c.2673C>T c.(2671-2673)GGC>GGT p.G891G ADCY5_uc003egg.1_Silent_p.G524G|ADCY5_uc003egi.1_Silent_p.G450G NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 891 Extracellular (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) CCTGCTCATCGCCCAGGCTGT 0.652 NA 13 41 0 0 0.09319 0 0 VEPH1 79674 broad.mit.edu 37 3 157213089 157213089 + Missense_Mutation SNP G G C TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr3:157213089G>C uc003fbj.1 - 2 367 c.50C>G c.(49-51)GCT>GGT p.A17G VEPH1_uc003fbk.1_Missense_Mutation_p.A17G|VEPH1_uc010hvu.1_Missense_Mutation_p.A17G|VEPH1_uc003fbm.2_Missense_Mutation_p.A17G|VEPH1_uc003fbn.2_Missense_Mutation_p.A17G NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 17 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) GAGGTCCCCAGCTCGTGAAAG 0.418 NA 34 80 0 0 0.225048 0 0 YEATS2 55689 broad.mit.edu 37 3 183515839 183515839 + Missense_Mutation SNP G G C TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr3:183515839G>C uc003fly.2 + 22 3421 c.3226G>C c.(3226-3228)GTG>CTG p.V1076L NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 1076 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TGTGAATAAAGGTGAGTCCCT 0.587 NA 10 19 0 0 0.058154 0 0 NDST3 9348 broad.mit.edu 37 4 119059263 119059263 + Missense_Mutation SNP G G A rs150758016 byFrequency TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr4:119059263G>A uc003ibx.2 + 5 1682 c.1279G>A c.(1279-1281)GTC>ATC p.V427I NDST3_uc011cgf.1_Missense_Mutation_p.V346I NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 427 Lumenal (Potential).|Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 CCATTCGGGCGTCTACCCTGT 0.468 NA 19 55 0 0 0.219247 0 0 FGFR1 2260 broad.mit.edu 37 8 38314896 38314896 + Silent SNP C C T TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr8:38314896C>T uc003xlp.2 - 2 1011 c.69G>A c.(67-69)CCG>CCA p.P23P FGFR1_uc011lbo.1_Silent_p.P23P|FGFR1_uc011lbp.1_Silent_p.P23P|FGFR1_uc011lbq.1_Silent_p.P23P|FGFR1_uc010lwk.2_5'UTR|FGFR1_uc011lbs.1_5'UTR|FGFR1_uc011lbt.1_Silent_p.P23P|FGFR1_uc011lbu.1_Silent_p.P56P|FGFR1_uc011lbv.1_Silent_p.P23P|FGFR1_uc011lbw.1_Silent_p.P23P|FGFR1_uc011lbx.1_Silent_p.P23P|FGFR1_uc003xlv.2_Silent_p.P23P|FGFR1_uc003xlu.2_Silent_p.P23P|FGFR1_uc003xlw.1_RNA NM_023110 NP_075598 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 isoform 1 23 Extracellular (Potential). axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1) 15 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) AGGTCGGGGACGGCCTAGCGG 0.612 Melanoma(146;1153 1840 21453 21841 43625) 1 T BCR|FOP|ZNF198|CEP1 MPD|NHL Pfeiffer syndrome|Kallman syndrome 15 21 0 0 0.132662 0 0 CHD7 55636 broad.mit.edu 37 8 61765656 61765656 + Silent SNP C C T TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr8:61765656C>T uc003xue.2 + 31 6849 c.6372C>T c.(6370-6372)TTC>TTT p.F2124F NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2124 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AGTTATCCTTCTTGGATGCAC 0.498 NA 11 30 0 0 0.069234 0 0 VPS13B 157680 broad.mit.edu 37 8 100523686 100523686 + Missense_Mutation SNP A A G TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr8:100523686A>G uc003yiv.2 + 29 4765 c.4654A>G c.(4654-4656)AGT>GGT p.S1552G VPS13B_uc003yiw.2_Missense_Mutation_p.S1527G|VPS13B_uc003yix.1_Missense_Mutation_p.S1022G NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1552 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TGTCAACACAAGTGTAATCAG 0.348 Colon(161;2205 2542 7338 31318) NA 19 23 0 0 0.219247 0 0 ASTN2 23245 broad.mit.edu 37 9 119976967 119976967 + Missense_Mutation SNP C C T TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr9:119976967C>T uc004bjs.1 - 3 786 c.685G>A c.(685-687)GCC>ACC p.A229T ASTN2_uc004bjr.1_Missense_Mutation_p.A229T|ASTN2_uc004bjt.1_Missense_Mutation_p.A229T NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 229 Cytoplasmic (Potential). A -> V (found in a clear cell renal carcinoma case; somatic mutation). integral to membrane p.A229V(1) skin(4)|ovary(3)|breast(1)|kidney(1) 9 CGTCGCTGGGCGTACAGCGCC 0.607 NA 13 20 0 0 0.09319 0 0 C9orf106 414318 broad.mit.edu 37 9 132084686 132084686 + Silent SNP T T C TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr9:132084686T>C uc004bxs.2 + 2 647 c.594T>C c.(592-594)CAT>CAC p.H198H NM_001012715 NP_001012733 Q8NAJ2 CI106_HUMAN hypothetical protein LOC414318 198 0 Ovarian(14;0.00556)|Medulloblastoma(224;0.235) GGGGTAAACATGGTCCCAGGC 0.597 NA 12 37 0 0 0.080935 0 0 USP20 10868 broad.mit.edu 37 9 132637634 132637634 + Silent SNP C C T TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr9:132637634C>T uc004bys.2 + 20 2305 c.2094C>T c.(2092-2094)TCC>TCT p.S698S USP20_uc004byr.2_Silent_p.S698S|USP20_uc004byt.1_Silent_p.S698S NM_001110303 NP_001103773 Q9Y2K6 UBP20_HUMAN ubiquitin specific protease 20 698 DUSP 1. endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding lung(1)|breast(1) 2 Ovarian(14;0.00556) AGGTGGTGTCCCTGGCCGCCA 0.662 NA 5 11 0 0 0.217242 0 0 TUBB2C 10383 broad.mit.edu 37 9 140136447 140136447 + Missense_Mutation SNP T T A TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr9:140136447T>A uc004cmh.1 + 3 353 c.251T>A c.(250-252)ATC>AAC p.I84N TUBB2C_uc004cmg.1_5'UTR NM_006088 NP_006079 P68371 TBB2C_HUMAN tubulin, beta, 2 84 'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding ovary(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) TTCGGGCAGATCTTCCGGCCG 0.701 NA 6 23 0 0 0.217242 0 0 NLRX1 79671 broad.mit.edu 37 11 119045824 119045825 + Frame_Shift_Ins INS - - T TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr11:119045824_119045825insT uc001pvu.2 + 6 1727_1728 c.1512_1513insT c.(1510-1515)CTCTACfs p.L504fs NLRX1_uc010rzc.1_Frame_Shift_Ins_p.L326fs|NLRX1_uc001pvv.2_Frame_Shift_Ins_p.L504fs|NLRX1_uc001pvw.2_Frame_Shift_Ins_p.L504fs|NLRX1_uc001pvx.2_Frame_Shift_Ins_p.L504fs NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN NLR family member X1 isoform 1 504_505 Required for interaction with MAVS. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding ovary(1)|skin(1) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TGGCTGCCCTCTACATTGTGCT 0.624 NA 36 41 --- --- --- --- NA NA NA NA NA TSC2 7249 broad.mit.edu 37 16 2121863 2121865 + In_Frame_Del DEL AGG AGG - TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 AGG AGG - - AGG AGG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr16:2121863_2121865delAGG uc002con.2 + 19 2131_2133 c.2025_2027delAGG c.(2023-2028)GCAGGC>GCC p.G676del TSC2_uc010bsd.2_In_Frame_Del_p.G676del|TSC2_uc002coo.2_In_Frame_Del_p.G676del|TSC2_uc010uvv.1_In_Frame_Del_p.G639del|TSC2_uc010uvw.1_In_Frame_Del_p.G627del|TSC2_uc002cop.2_In_Frame_Del_p.G476del NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 676 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) CGGCGCCTGCAGGCCCCGCCGTG 0.685 NA D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 2 4 --- --- --- --- NA NA NA NA NA TMEM101 84336 broad.mit.edu 37 17 42091891 42091891 + Frame_Shift_Del DEL G G - TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr17:42091891delG uc002ieu.2 - 2 177 c.152delC c.(151-153)CCAfs p.P51fs TMEM101_uc010wis.1_5'UTR NM_032376 NP_115752 Q96IK0 TM101_HUMAN transmembrane protein 101 51 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Breast(137;0.0264)|Prostate(33;0.0861) BRCA - Breast invasive adenocarcinoma(366;0.113) GTAAGGCACTGGGATGTCGGG 0.622 NA 2 4 --- --- --- --- NA NA NA NA NA SETD2 29072 broad.mit.edu 37 3 47143009 47143010 + Frame_Shift_Ins INS - - A TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chr3:47143009_47143010insA uc003cqs.2 - 8 5006_5007 c.4953_4954insT c.(4951-4956)TTTACCfs p.F1651fs SETD2_uc003cqv.2_Frame_Shift_Ins_p.F1718fs NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1651_1652 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) AGTTTGGTGGTAAAAAACCCAA 0.342 NA N|F|S|Mis clear cell renal carcinoma 40 145 --- --- --- --- NA NA NA NA NA FAM58A 92002 broad.mit.edu 37 X 152858167 152858167 + Frame_Shift_Del DEL G G - TCGA-05-4425-01A-01D-1753-08 TCGA-05-4425-10A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 4a367804-9934-4241-90da-0ba0245564bd 9fdb4cff-c29d-4070-a847-7cb92547cd6e g.chrX:152858167delG uc010nug.2 - 3 371 c.268delC c.(268-270)CTCfs p.L90fs Q8N1B3 FA58A_HUMAN RecName: Full=Cyclin-related protein FAM58B; 152 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAGTTCTGGAGGGAAACCAGG 0.577 NA 10 14 --- --- --- --- NA NA NA NA NA