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{"sheet":"Sheet1","index":0,"n_rows":221,"n_cols":39,"rows_kept":221}
["CHROM","POS","ID","REF","ALT","hiConfDeNovo","loConfDeNovo","Consequence","IMPACT","SYMBOL","HGVSc","HGVSp","cDNA_position","CDS_position","Protein_position","Amino_acids","Codons","Existing_variation","SIFT","PolyPhen","MAX_AF","MAX_AF_POPS","CLIN_SIG","CADD_PHRED","CADD_RAW","Conservation","ada_score","rf_score","DisGeNET_PMID","DisGeNET_SCORE","ExACpLI","LoFtool","LRT_pred","MutationAssessor_pred","MutationTaster_pred","PROVEAN_pred","Polyphen2_HDIV_pred","RepeatMasker","genomicSuperDups"]
["chr1",23093467,"rs761100989","C","A","SMHC01282s000","NA","missense_variant","MODERATE","LUZP1","ENST00000302291.8:c.795G>T","ENSP00000303758.4:p.Lys265Asn","1597/8898","795/3231","265/1076","K/N","aaG/aaT","rs761100989","deleterious(0)","possibly_damaging(0.698)",{"v":3.317e-05,"d":"3.32E-05"},"gnomAD_SAS",null,23.2,2.910971,1.2,{"$nulls":4},0.29,0.429,"D","M&M&M&.","D&D&D&D","N&N&N&N","D&D&D&."]
["chr1",26200946,"rs762393629","C","A","SMHC01028s000","NA","missense_variant","MODERATE","CATSPER4","ENST00000456354.7:c.1104C>A","ENSP00000390423.3:p.Asn368Lys","1130/1867","1104/1419","368/472","N/K","aaC/aaA","rs762393629","deleterious(0)","probably_damaging(0.996)",{"$nulls":3},23.1,2.833291,1.29,{"$nulls":4},0,0.153,"D",".&M","D","N&N",".&D"]
["chr1",37807999,".","G","A","NA","SMHC01353s000","missense_variant","MODERATE","YRDC","ENST00000373044.3:c.182C>T","ENSP00000362135.2:p.Pro61Leu","210/1848","182/840","61/279","P/L","cCg/cTg",null,"deleterious(0.01)","benign(0.001)",{"$nulls":3},23.2,2.893621,1.74,{"$nulls":4},0.13,null,"N","N","D&D&N","N","B"]
["chr1",89934677,"rs753883648","G","A","SMHC01311s000","NA","missense_variant","MODERATE","LRRC8D","ENST00000337338.9:c.1609G>A","ENSP00000338887.5:p.Asp537Asn","2016/3950","1609/2577","537/858","D/N","Gat/Aat","rs753883648","deleterious(0.01)","benign(0.348)",{"v":6.158e-05,"d":"6.16E-05"},"gnomAD_AFR",null,24.7,3.48692,2.77,{"$nulls":4},0.87,0.334,"D","L&L","D&D","N&N","P&P"]
["chr1",113123886,"rs151009293","C","T","SMHC01003s000","NA","missense_variant","MODERATE","LRIG2","ENST00000361127.6:c.2983C>T","ENSP00000355396.4:p.Arg995Trp","3192/11566","2983/3198","995/1065","R/W","Cgg/Tgg","rs151009293&COSV100743625","deleterious(0)","benign(0.226)",2.3E-3,"AFR",null,22.5,2.542893,1.34,{"$nulls":4},0,0.938,"N","L","N","N","D"]
["chr1",151530739,"rs1408237099","A","G","SMHC01208s000","NA","missense_variant","MODERATE","CGN","ENST00000271636.12:c.2564A>G","ENSP00000271636.7:p.Asn855Ser","2707/5101","2564/3612","855/1203","N/S","aAc/aGc","rs1408237099","tolerated(0.14)","probably_damaging(0.954)",{"$nulls":3},23.8,3.157387,3.11,{"$nulls":4},0,0.782,"D",null,"D","N"]
["chr1",155133553,".","G","T","SMHC01351s000","NA","missense_variant","MODERATE","EFNA1","ENST00000368407.8:c.439G>T","ENSP00000357392.3:p.Val147Phe","541/1552","439/618","147/205","V/F","Gtc/Ttc",null,"deleterious(0)","probably_damaging(0.948)",{"$nulls":3},24.9,3.569979,1.02,{"$nulls":4},0.87,0.147,"D","M","D&D","D","D"]
["chr1",157587329,"rs1023073972","G","C","SMHC90004sfd0","NA","missense_variant","MODERATE","FCRL4","ENST00000271532.2:c.794C>G","ENSP00000271532.1:p.Thr265Arg","935/3466","794/1548","265/515","T/R","aCa/aGa","rs1023073972","deleterious(0)","possibly_damaging(0.692)",{"$nulls":3},18.93,1.956816,1.38,{"$nulls":4},0,0.835,"N","M","N","D","P"]
["chr1",185984197,"rs112809015","G","A","SMHC01081s000","NA","missense_variant","MODERATE","HMCN1","ENST00000271588.9:c.2819G>A","ENSP00000271588.4:p.Arg940His","3208/18368","2819/16908","940/5635","R/H","cGc/cAc","rs112809015&COSV54917200","deleterious(0)","probably_damaging(0.999)",0.0002462,"gnomAD_AFR",null,28.7,4.203199,2.67,{"$nulls":4},0,0.675,"D","N","D&D","D","D"]
["chr1",212883404,"rs372728084","C","T","SMHC01432s000","NA","missense_variant","MODERATE","FLVCR1","ENST00000366971.9:c.1058C>T","ENSP00000355938.4:p.Thr353Met","1236/5919","1058/1668","353/555","T/M","aCg/aTg","rs372728084","deleterious(0)","probably_damaging(1)",1.164E-4,"EA",null,26.5,3.927738,2.04,{"$nulls":4},0,0.465,"D","M","D","D","D"]
["chr3",58163325,".","C","A","SMHC01081s000","NA","missense_variant","MODERATE","FLNB","ENST00000490882.5:c.7286C>A","ENSP00000420213.1:p.Thr2429Asn","7451/8079","7286/7902","2429/2633","T/N","aCc/aAc",null,"tolerated(0.34)","possibly_damaging(0.733)",{"$nulls":3},19.6,2.045338,0.631,{"$nulls":4},0,0.00269,"D",".&M&.&.&.","D&D&D&D&D&D&D&D","N&N&N&N&N",".&B&B&.&B"]
["chr3",129606423,".","G","T","NA","SMHC01028s000","missense_variant","MODERATE","PLXND1","ENST00000324093.9:c.217C>A","ENSP00000317128.4:p.Leu73Met","254/6913","217/5778","73/1925","L/M","Ctg/Atg",null,"tolerated(0.06)","probably_damaging(0.999)",{"$nulls":3},23.4,3.016268,-0.159,{"$nulls":4},1,0.16,"U","M","D&D","N","D"]
["chr5",88823745,"rs1202957297","C","T","SMHC01432s000","NA","missense_variant","MODERATE","MEF2C","ENST00000340208.9:c.44G>A","ENSP00000340874.5:p.Arg15His","421/6192","44/1452","15/483","R/H","cGt/cAt","rs1202957297&COSV60928546","deleterious(0)","probably_damaging(0.998)",0,"gnomAD_AFR&gnomAD_AMR&gnomAD_ASJ&gnomAD_EAS&gnomAD_FIN&gnomAD_NFE&gnomAD_OTH&gnomAD_SAS","likely_pathogenic",29.6,4.298644,3.38,{"$nulls":3},0.7,0,0.391,"D","M&M&M&.&M&M&M&.&M&.&.&M&M&M&M&.&M&.&M&.&.&.&.&.&.&.&.&.&.","D&D&D&D&D&D&D&D&D&D","D&D&D&.&.&.&D&.&D&D&D&.&D&.&.&.&D&.&.&D&D&.&D&D&D&D&.&D&D","D&.&.&.&.&.&D&.&.&.&.&.&.&D&D&.&D&.&.&.&.&.&.&.&.&.&.&.&."]
["chr6",33267933,".","C","T","SMHC01348s000","NA","missense_variant","MODERATE","VPS52","ENST00000445902.3:c.865G>A","ENSP00000409952.2:p.Val289Met","1066/2936","865/2172","289/723","V/M","Gtg/Atg",null,"deleterious(0.01)","probably_damaging(0.987)",{"$nulls":3},25.3,3.678989,2.06,{"$nulls":4},0.02,0.241,"D","M","D&D&D","N","D"]
["chr6",75886867,".","G","A","SMHC00912s000","NA","missense_variant","MODERATE","MYO6","ENST00000369981.7:c.2531G>A","ENSP00000358998.4:p.Gly844Asp","2810/8692","2531/3888","844/1295","G/D","gGc/gAc","COSV64121560","tolerated(0.36)","benign(0.015)",{"$nulls":3},19.66,2.05353,2.67,{"$nulls":4},0.02,0.179,"D",".&N&N&N&.&.","D&D&D&D","N&N&N&.&N&.",".&P&B&P&.&."]
["chr7",290771,".","T","C","SMHC01057s000","NA","missense_variant","MODERATE","FOXL3","ENST00000506382.2:c.226T>C","ENSP00000492766.1:p.Trp76Arg","226/702","226/702","76/233","W/R","Tgg/Cgg",null,"deleterious(0)","probably_damaging(0.999)",{"$nulls":3},31,4.389591,1.91]
["chr7",4113314,"rs766241783","G","T","SMHC01042s000","NA","missense_variant","MODERATE","SDK1","ENST00000404826.7:c.3460G>T","ENSP00000385899.2:p.Val1154Phe","3795/10593","3460/6642","1154/2213","V/F","Gtt/Ttt","rs766241783","deleterious(0)","probably_damaging(0.999)",0,"gnomAD_AFR&gnomAD_AMR&gnomAD_ASJ&gnomAD_EAS&gnomAD_FIN&gnomAD_NFE&gnomAD_OTH&gnomAD_SAS",null,27.6,4.08042,2.39,{"$nulls":4},0.01,0.433,"D","M&.&.","D&D","D&D&.","D&D&."]
["chr7",64814990,"rs375651103","C","T","SMHC01197s000","NA","missense_variant","MODERATE","ZNF138","ENST00000307355.12:c.76C>T","ENSP00000303533.7:p.Arg26Trp","217/2579","76/960","26/319","R/W","Cgg/Tgg","rs375651103","deleterious(0.04)","probably_damaging(0.947)",{"v":6.535e-05,"d":"6.54E-05"},"gnomAD_SAS",null,17.82,1.811838,{"$nulls":5},0,0.818,null,".&.&.&.&.&.","N&N&N&N&N&N","D&.&D&D&D&D",".&.&.&.&.&B"]
["chr7",102248779,"rs1430314955","G","T","NA","SMHC01432s000","missense_variant","MODERATE","CUX1","ENST00000360264.7:c.4288G>T","ENSP00000353401.3:p.Asp1430Tyr","4308/13762","4288/4551","1430/1516","D/Y","Gac/Tac","rs1430314955","tolerated(0.05)","benign(0.264)",{"$nulls":3},22.9,2.740003,0.361,{"$nulls":4},1,0.407,"N",".&.&.&N&N&.&.&.","D&D&D&D&D&D&D&D&N&N&N&N&N",".&.&N&N&.&N&N&N",".&.&P&B&B&.&.&."]
["chr7",117540269,"rs397508147","C","T","SMHC01304d000","NA","missense_variant","MODERATE","CFTR","ENST00000003084.11:c.1039C>T","ENSP00000003084.6:p.Arg347Cys","1109/6070","1039/4443","347/1480","R/C","Cgc/Tgc","rs397508147&CM931146&COSV50040443","deleterious(0)","probably_damaging(0.999)",0.000123,"gnomAD_AFR","uncertain_significance&not_provided",29,4.234146,2.17,{"$nulls":4},0,0.0235,"D","M&.&.&.&M","D&D","D&.&.&D&.","D&.&.&.&."]
["chr8",38846719,"rs200636791","A","G","SMHC90003s000","NA","missense_variant","MODERATE","TACC1","ENST00000317827.9:c.2249A>G","ENSP00000321703.4:p.Gln750Arg","2596/7770","2249/2418","750/805","Q/R","cAg/cGg","rs200636791","deleterious(0)","possibly_damaging(0.546)",0.0001319,"gnomAD_NFE",null,26.3,3.885453,1.15,{"$nulls":4},0.02,0.755,"D",".&.&.&L&.&.&.","D&D&D&D&D&D&D&D&D&D&D","D&D&D&D&D&D&D","B&.&B&B&B&B&."]
["chr8",109968150,".","G","A","SMHC01288s000","NA","stop_gained","HIGH","KCNV1","ENST00000524391.6:c.1441C>T","ENSP00000435954.1:p.Arg481Ter","2398/6912","1441/1503","481/500","R/*","Cga/Tga","COSV99819084",{"$nulls":5},38,7.362178,1.25,{"$nulls":4},0.78,0.0866,"N",".&.","D&D",".&.",".&."]
["chr9",137070057,".","A","G","NA","SMHC01340s000","missense_variant","MODERATE","SAPCD2","ENST00000409687.5:c.404T>C","ENSP00000386348.3:p.Leu135Pro","501/3814","404/1185","135/394","L/P","cTg/cCg",null,"deleterious(0.05)","benign(0.003)",{"$nulls":3},23.3,2.928593,0.648,{"$nulls":4},0,null,"U","L","D","N","B"]
["chr10",94171243,".","G","T","SMHC90004s000","NA","missense_variant","MODERATE","PLCE1","ENST00000371380.8:c.1556G>T","ENSP00000360431.2:p.Ser519Ile","2248/12481","1556/6909","519/2302","S/I","aGc/aTc",null,"deleterious(0)","probably_damaging(0.98)",{"$nulls":3},26.6,3.947219,2.73,{"$nulls":4},0.2,0.802,"D","L&.&.","D&D&D&D","N&N&N","D&D&D"]
["chr10",132690392,".","G","A","SMHC00852d000","NA","missense_variant&splice_region_variant","MODERATE","INPP5A","ENST00000368594.8:c.307G>A","ENSP00000357583.3:p.Ala103Thr","617/3000","307/1239","103/412","A/T","Gca/Aca","COSV61248624","deleterious(0)","probably_damaging(0.999)",{"$nulls":3},32,4.693299,1.76,0.996286143461777,0.816,null,null,0.94,0.178,"D","M&.&.","D&D","D&D&D","D&P&."]
["chr11",122115826,"rs764846072","A","C","SMHC01296s000","NA","missense_variant","MODERATE","BLID","ENST00000560104.2:c.97T>G","ENSP00000453153.1:p.Ser33Ala","390/876","97/327","33/108","S/A","Tct/Gct","rs764846072","deleterious_low_confidence(0)","benign(0.376)",0,"gnomAD_AFR&gnomAD_AMR&gnomAD_ASJ&gnomAD_EAS&gnomAD_FIN&gnomAD_NFE&gnomAD_OTH&gnomAD_SAS",null,17.34,1.745519,-0.694,{"$nulls":4},0.59,null,null,"N","N","D","P"]
["chr12",12181394,"rs759106535","C","T","SMHC90004s000","NA","missense_variant","MODERATE","LRP6","ENST00000261349.9:c.1022G>A","ENSP00000261349.4:p.Arg341His","1331/10252","1022/4842","341/1613","R/H","cGc/cAc","rs759106535&COSV53786736","deleterious(0)","benign(0.046)",0.0001635,"gnomAD_OTH",null,23.8,3.162339,2.63,{"$nulls":4},1,0.0402,"D","M&.","D&D","D&D","B&B"]
["chr12",26436348,".","T","C","SMHC01369d000","NA","splice_acceptor_variant","HIGH","ITPR2","ENST00000381340.8:c.6644-2A>G",{"$nulls":12},34,5.658074,4.08,0.999972155025474,0.818,null,null,0,0.139]
["chr12",51098864,"rs1414251455","A","AT","SMHC01205s000","NA","frameshift_variant","HIGH","TFCP2","ENST00000257915.10:c.1330dup","ENSP00000257915.5:p.Ile444AsnfsTer29","2043-2044/3807","1330-1331/1509","444/502","I/NX","att/aAtt","rs1414251455",{"$nulls":5},33,4.851654,{"$nulls":5},0,0.792]
["chr12",51789303,".","A","G","SMHC01002s000","NA","missense_variant","MODERATE","SCN8A","ENST00000599343.5:c.4337A>G","ENSP00000476447.3:p.Glu1446Gly","4337/5976","4337/5976","1446/1991","E/G","gAg/gGg",null,"deleterious(0.01)","possibly_damaging(0.79)",{"$nulls":3},32,4.494022,3.15,{"$nulls":4},1,0.0157,"D","M&.&.&.&M","D&D","D&D&D&.&.","D&.&.&.&."]
["chr12",116576082,".","T","C","SMHC01299s000","NA","missense_variant","MODERATE","MAP1LC3B2","ENST00000556529.4:c.140T>C","ENSP00000450524.1:p.Leu47Pro","294/818","140/378","47/125","L/P","cTg/cCg",null,"deleterious(0.01)","probably_damaging(0.999)",{"$nulls":3},22.8,2.698297,2.22,{"$nulls":4},0.02,0.712,"U","M","D&D","D","D"]
["chr12",132730079,".","G","GT","SMHC01208s000","NA","frameshift_variant","HIGH","ANKLE2","ENST00000357997.10:c.2082dup","ENSP00000350686.5:p.His695ThrfsTer41","2116-2117/4590","2082-2083/2817","694-695/938","-/X","-/A",{"$nulls":13},0,0.805]
["chr13",45479027,".","T","C","SMHC01191s000","NA","missense_variant","MODERATE","COG3","ENST00000349995.10:c.344T>C","ENSP00000258654.8:p.Leu115Pro","442/4555","344/2487","115/828","L/P","cTg/cCg",null,"deleterious(0)","possibly_damaging(0.896)",{"$nulls":3},28.6,4.197414,2.94,{"$nulls":4},1,null,"D","M&M","D","D&.","D&D"]
["chr14",35659136,".","AC","A","SMHC01239s000","NA","splice_donor_variant","HIGH","RALGAPA1","ENST00000680220.1:c.5387+1del",{"$nulls":14},3.27,{"$nulls":4},1,0.03]
["chr15",20534438,"rs775072231","G","A","SMHC01003s000","NA","stop_gained","HIGH","GOLGA6L6","ENST00000619213.1:c.1996C>T","ENSP00000480376.1:p.Arg666Ter","2087/4013","1996/2175","666/724","R/*","Cga/Tga","rs775072231&COSV71180670",null,null,0.000483,"gnomAD_ASJ",null,24.5,3.448263,{"$nulls":5},0.09,{"$nulls":3},"A",{"$nulls":3},"chr15:28515369&chr15:22358242&chr15:28316058&chr15:23311344&chr15:30507063&chr15:32480667&chr16:53353853&chr15:23123714"]
["chr15",62708628,".","C","G","SMHC01299s000","NA","missense_variant","MODERATE","TLN2","ENST00000561311.5:c.2299C>G","ENSP00000453508.1:p.Leu767Val","2529/11880","2299/7629","767/2542","L/V","Ctg/Gtg",null,"tolerated(0.09)","probably_damaging(0.98)",{"$nulls":3},22.7,2.62962,0.27,{"$nulls":4},1,0.525,"D","L","D&D","N","P"]
["chr16",4817612,"rs1250661152","G","A","SMHC01320s000","NA","missense_variant","MODERATE","GLYR1","ENST00000321919.14:c.892C>T","ENSP00000322716.6:p.Arg298Cys","915/3718","892/1662","298/553","R/C","Cgc/Tgc","rs1250661152","deleterious(0)","benign(0.313)",{"$nulls":3},24.8,3.54148,1.56,{"$nulls":4},1,0.108,"D",".&H&H","D&D&D&D","D&D&.","D&D&D"]
["chr16",69361448,".","T","C","SMHC01065s000","NA","missense_variant","MODERATE","TERF2","ENST00000254942.8:c.1382A>G","ENSP00000254942.3:p.Glu461Gly","1418/2996","1382/1629","461/542","E/G","gAa/gGa",null,"deleterious(0.03)","probably_damaging(0.976)",{"$nulls":3},23.9,3.228591,2.31,{"$nulls":4},0.93,0.346,"N","M","D"]
["chr17",42592139,"rs774835274","C","T","SMHC01296s000","NA","missense_variant","MODERATE","RETREG3","ENST00000309428.10:c.263G>A","ENSP00000309432.4:p.Arg88His","313/3749","263/1401","88/466","R/H","cGt/cAt","rs774835274&COSV100515092","tolerated(0.06)","benign(0.232)",0.0002951,"gnomAD_SAS",null,23,2.788018,4.03,{"$nulls":6},"D",".&.","D&D&D","N&.","P&."]
["chr19",10923673,".","A","G","SMHC01306d000","NA","missense_variant","MODERATE","YIPF2","ENST00000586748.6:c.656T>C","ENSP00000466055.1:p.Leu219Pro","815/2111","656/951","219/316","L/P","cTg/cCg",null,"deleterious(0)","probably_damaging(0.997)",{"$nulls":3},26,3.836125,2.76,{"$nulls":4},0,0.383,"D","M&M&.&.&.","D&D&D","D&.&.&.&.","D&D&.&.&."]
["chr20",664156,"rs760188191","CCCCCGCGCG","C","NA","SMHC01090s000","inframe_deletion","MODERATE","SCRT2","ENST00000246104.7:c.430_438del","ENSP00000246104.5:p.Arg144_Gly146del","631-639/3200","430-438/924","144-146/307","RAG/-","CGCGCGGGG/-","rs760188191",null,null,0.0009852,"gnomAD_NFE",null,15.36,1.442085,-1.86,{"$nulls":4},0.36]
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["chr22",42213982,".","C","CT","SMHC00860s000","NA","frameshift_variant","HIGH","TCF20","ENST00000677622.1:c.1323dup","ENSP00000503828.1:p.Gly442ArgfsTer14","1674-1675/7624","1323-1324/5883","441-442/1960","-/X","-/A",{"$nulls":13},1,0.0597]
["chrX",37010136,"rs782543670","G","A","SMHC01812s000","NA","missense_variant","MODERATE","FAM47C","ENST00000358047.5:c.1726G>A","ENSP00000367913.3:p.Asp576Asn","1771/3299","1726/3108","576/1035","D/N","Gat/Aat","rs782543670&COSV63723763","deleterious_low_confidence(0.02)","benign(0.037)",1.098E-3,"gnomAD_AFR",null,10.1,0.868369,{"$nulls":5},0.06,0.714,null,"N","N","N","P",null,"chrX:34937554"]
["chrX",103825244,".","G","A","SMHC00842s000","NA","missense_variant","MODERATE","RAB9B","ENST00000243298.3:c.541C>T","ENSP00000243298.2:p.His181Tyr","855/3772","541/606","181/201","H/Y","Cat/Tat",null,"tolerated(0.3)","benign(0.242)",{"$nulls":3},21.7,2.321041,2.23,{"$nulls":4},0.62,null,"D","N","D","N","P"]