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{"sheet":"Validated mutations","index":0,"n_rows":1273,"n_cols":23,"rows_kept":1273}
["Table S2. Full list of 1,271 sanger validated variants in our Chinese cohort."]
["Patient_ID","Sex","Chr","Start","End","Ref","Alt","Het/Hom","Effect","Origin","Gene.refGene","ExonicFunc.refGene","AAChange.refGene","GeneFullName.refGene","RVIS(percentile)","pLI(percentile)","cytoBand","avsnp150","ReVe","gnomAD_exome_ALL","gnomAD_exome_EAS","gnomAD_genome_ALL","gnomAD_genome_EAS"]
[5303,"Male","chr1",43396395,43396395,"C","T","Het","Dmis","De_novo","SLC2A1","nonsynonymous SNV","SLC2A1:NM_006516:exon4:c.418G>A:p.V140M","solute carrier family 2 member 1","-0.915582298 (10.4885%)","0.93980813(15.5556%)","1p34.2","rs1057517822","0.736:D","-","-","-","-"]
[5319,"Male","chr2",25463181,25463181,"C","A","Het","Dmis","De_novo","DNMT3A","nonsynonymous SNV","DNMT3A:NM_001320893:exon14:c.1856G>T:p.R619L,DNMT3A:NM_153759:exon15:c.1745G>T:p.R582L,DNMT3A:NM_022552:exon19:c.2312G>T:p.R771L,DNMT3A:NM_175629:exon19:c.2312G>T:p.R771L","DNA (cytosine-5-)-methyltransferase 3 alpha","-1.956719104 (2.10118%)","7.73E-45(99.9287%)","2p23.3","-","0.995:D","-","-",{"v":3.23e-05,"d":"3.23E-05"},0]
[5325,"Female","chr15",25616857,25616857,"-","A","Het","PTV","De_novo","UBE3A","frameshift insertion","UBE3A:NM_130838:exon3:c.403dupT:p.S135Ffs*1,UBE3A:NM_130839:exon6:c.463dupT:p.S155Ffs*1,UBE3A:NM_000462:exon7:c.472dupT:p.S158Ffs*1","ubiquitin protein ligase E3A","-1.333310276 (5.17481%)","0.999576244(4.9328%)","15q11.2","rs587780572","-","-","-","-","-"]
[9797,"Male","chr14",29237417,29237417,"C","A","Het","PTV","De_novo","FOXG1","stopgain","FOXG1:NM_005249:exon1:c.932C>A:p.S311X","forkhead box G1","-0.29013162 (31.7898%)","-","14q12","-","0.691:T","-","-","-","-"]
["A592","Male","chr3",135870044,135870044,"C","-","Het","PTV","De_novo","MSL2","frameshift deletion","MSL2:NM_001145417:exon2:c.1457delG:p.S486Ifs*11,MSL2:NM_018133:exon2:c.1679delG:p.S560Ifs*11","male-specific lethal 2 homolog (Drosophila)","-0.718445538 (15.0093%)","0.889663742(18.1893%)","3q22.3","-","-","-","-","-","-"]
["s5135","Male","chr6",157528742,157528742,"T","C","Het","Dmis","De_novo","ARID1B","nonsynonymous SNV","ARID1B:NM_017519:exon19:c.6428T>C:p.I2143T,ARID1B:NM_001346813:exon20:c.6587T>C:p.I2196T,ARID1B:NM_020732:exon20:c.6467T>C:p.I2156T","AT-rich interaction domain 1B","-2.205109578 (1.51655%)","0.99994993(3.2099%)","6q25.3","-","0.908:D","-","-","-","-"]
["s5138","Male","chr17",49077071,49077071,"G","A","Het","PTV","De_novo","SPAG9","stopgain","SPAG9:NM_001251971:exon10:c.1144C>T:p.R382X,SPAG9:NM_001130527:exon13:c.1573C>T:p.R525X,SPAG9:NM_003971:exon13:c.1573C>T:p.R525X,SPAG9:NM_001130528:exon14:c.1615C>T:p.R539X","sperm associated antigen 9","-1.200392043 (6.59296%)","0.999998938(1.6680%)","17q21.33","-","0.619:T","-","-","-","-"]
["s5162","Male","chr12",13724812,13724824,"ATAGTTATTGCGA","-","Het","PTV","De_novo","GRIN2B","frameshift deletion","GRIN2B:NM_000834:exon10:c.2085_2097del:p.I695Mfs*14","glutamate ionotropic receptor NMDA type subunit 2B","-2.476366832 (1.09979%)","0.999994896(2.1948%)","12p13.1","-","-","-","-","-","-"]
["s5174","Male","chr8",61757445,61757445,"-","T","Het","PTV","De_novo","CHD7","frameshift insertion","CHD7:NM_017780:exon22:c.4874dupT:p.S1626Ffs*5","chromodomain helicase DNA binding protein 7","-2.248811659 (1.42973%)","1(0.1920%)","8q12.2","-","-","-","-","-","-"]
["s5195","Male","chr1",153782655,153782655,"A","G","Het","PTV","De_novo","GATAD2B","stoploss","GATAD2B:NM_020699:exon11:c.1780T>C:p.X594Q","GATA zinc finger domain containing 2B","-0.647683512 (16.9194%)","0.998594716(6.3429%)","1q21.3","-","0.523:T","-","-","-","-"]
["s5204","Female","chr16",2122880,2122880,"C","T","Het","PTV","De_novo","TSC2","stopgain","TSC2:NM_001318831:exon18:c.1651C>T:p.R551X,TSC2:NM_001318827:exon20:c.2140C>T:p.R714X,TSC2:NM_001318829:exon20:c.2104C>T:p.R702X,TSC2:NM_000548:exon21:c.2251C>T:p.R751X,TSC2:NM_001077183:exon21:c.2251C>T:p.R751X,TSC2:NM_001114382:exon21:c.2251C>T:p.R751X,TSC2:NM_001318832:exon21:c.2284C>T:p.R762X","tuberous sclerosis 2","-2.944580835 (0.729335%)","0.999999983(0.8176%)","16p13.3","rs45517222","0.490:T","-","-","-","-"]
["s3221","Male","chr7",147914550,147914550,"C","A","Het","Dmis","De_novo","CNTNAP2","nonsynonymous SNV","CNTNAP2:NM_014141:exon19:c.3181C>A:p.P1061T","contactin associated protein-like 2","-0.135838044 (40.9065%)","3.83E-05(74.5569%)","7q36.1","-","0.933:D","-","-","-","-"]
["s3224","Male","chr3",41266561,41266564,"ACTA","-","Het","PTV","De_novo","CTNNB1","frameshift deletion","CTNNB1:NM_001098209:exon4:c.358_361del:p.T120Mfs*11,CTNNB1:NM_001098210:exon4:c.358_361del:p.T120Mfs*11,CTNNB1:NM_001904:exon4:c.358_361del:p.T120Mfs*11,CTNNB1:NM_001330729:exon5:c.337_340del:p.T113Mfs*11","catenin beta 1","-1.072890114 (8.10373%)","0.99981275(4.1975%)","3p22.1","-","-","-","-","-","-"]
["s3272","Female","chrX",79989692,79989692,"A","-","Het","PTV","De_novo","BRWD3","frameshift deletion","BRWD3:NM_153252:exon11:c.1011delT:p.S337Rfs*4","bromodomain and WD repeat domain containing 3","-2.849201202 (0.798796%)","0.999999996(0.6639%)","Xq21.1","-","-","-","-","-","-"]
["s3293","Female","chr5",88027590,88027590,"G","A","Het","PTV","De_novo","MEF2C","stopgain","MEF2C:NM_001193348:exon5:c.622C>T:p.R208X,MEF2C:NM_001193349:exon5:c.622C>T:p.R208X,MEF2C:NM_001308002:exon6:c.766C>T:p.R256X,MEF2C:NM_001193350:exon7:c.766C>T:p.R256X,MEF2C:NM_002397:exon7:c.766C>T:p.R256X,MEF2C:NM_001131005:exon8:c.760C>T:p.R254X,MEF2C:NM_001193347:exon9:c.820C>T:p.R274X","myocyte enhancer factor 2C","-0.582858988 (19.0264%)","0.004246174(58.8093%)","5q14.3","rs796052733","0.878:D",0,0,"-","-"]
["s3576","Female","chr6",33406570,33406570,"T","C","Het","Dmis","De_novo","SYNGAP1","nonsynonymous SNV","SYNGAP1:NM_001130066:exon10:c.1550T>C:p.L517P,SYNGAP1:NM_006772:exon10:c.1550T>C:p.L517P","synaptic Ras GTPase activating protein 1","-2.294718003 (1.36027%)","0.99999845(1.7942%)","6p21.32","-","0.996:D","-","-","-","-"]
["s3582","Male","chr16",3778982,3778982,"-","T","Het","PTV","De_novo","CREBBP","frameshift insertion","CREBBP:NM_001079846:exon30:c.5951dupA:p.Q1985Afs*317,CREBBP:NM_004380:exon31:c.6065dupA:p.Q2023Afs*317","CREB binding protein","-4.226101807 (0.21417%)","1(0.1701%)","16p13.3","-","-","-","-","-","-"]
["s3588","Male","chr12",13724844,13724844,"C","T","Het","Dmis","De_novo","GRIN2B","nonsynonymous SNV","GRIN2B:NM_000834:exon10:c.2065G>A:p.G689S","glutamate ionotropic receptor NMDA type subunit 2B","-2.476366832 (1.09979%)","0.999994896(2.1948%)","12p13.1","rs869312868","0.847:D","-","-","-","-"]
["s3800","Female","chr11",65978677,65978677,"C","T","Het","Dmis","De_novo","PACS1","nonsynonymous SNV","PACS1:NM_018026:exon4:c.607C>T:p.R203W","phosphofurin acidic cluster sorting protein 1","-1.475636869 (4.10975%)","0.999906352(3.6653%)","11q13.2","rs398123009","0.899:D",0,0,"-","-"]
["s3861","Female","chrX",153296363,153296363,"G","A","Het","Dmis","De_novo","MECP2","nonsynonymous SNV","MECP2:NM_001110792:exon3:c.952C>T:p.R318C,MECP2:NM_004992:exon4:c.916C>T:p.R306C,MECP2:NM_001316337:exon5:c.637C>T:p.R213C","methyl-CpG binding protein 2","-0.320453986 (30.2501%)","0.698089048(24.6200%)","Xq28","rs28935468","0.962:D","-","-","-","-"]
["s4098","Female","chr7",140501302,140501302,"T","C","Het","Dmis","De_novo","BRAF","nonsynonymous SNV","BRAF:NM_004333:exon6:c.770A>G:p.Q257R","B-Raf proto-oncogene, serine/threonine kinase","-0.965257977 (9.62607%)","0.999978196(2.8258%)","7q34","rs180177035","0.974:D","-","-","-","-"]
["s4151","Male","chr2",200188564,200188564,"G","A","Het","PTV","De_novo","SATB2","stopgain","SATB2:NM_001172509:exon9:c.1504C>T:p.Q502X,SATB2:NM_001172517:exon10:c.1504C>T:p.Q502X,SATB2:NM_015265:exon10:c.1504C>T:p.Q502X","SATB homeobox 2","-1.308470499 (5.37161%)","0.999563007(4.9712%)","2q33.1","-","0.834:D","-","-","-","-"]
["s4216","Female","chr22",42575645,42575645,"G","A","Het","PTV","De_novo","TCF20","stopgain","TCF20:NM_181492:exon2:c.5719C>T:p.R1907X,TCF20:NM_005650:exon3:c.5719C>T:p.R1907X","transcription factor 20 (AR1)","-3.824233709 (0.341514%)","0.999977934(2.8368%)","22q13.2","-","0.662:T","-","-","-","-"]
["s4225","Female","chr20",62070955,62070955,"G","A","Het","Dmis","De_novo","KCNQ2","nonsynonymous SNV","KCNQ2:NM_004518:exon6:c.923C>T:p.P308L,KCNQ2:NM_172106:exon6:c.923C>T:p.P308L,KCNQ2:NM_172107:exon6:c.923C>T:p.P308L,KCNQ2:NM_172108:exon6:c.923C>T:p.P308L,KCNQ2:NM_172109:exon6:c.923C>T:p.P308L","potassium voltage-gated channel subfamily Q member 2","-1.249109188 (5.96782%)","0.999356099(5.3937%)","20q13.33","-","0.964:D","-","-","-","-"]
["s5358","Male","chrX",153216868,153216868,"A","G","Het","Dmis","De_novo","HCFC1","nonsynonymous SNV","HCFC1:NM_005334:exon22:c.5450T>C:p.V1817A","host cell factor C1","-2.904439972 (0.752489%)","0.999995934(2.1070%)","Xq28","-","0.726:D","-","-","-","-"]
["s5358","Male","chrX",23398236,23398236,"C","T","Het","Dmis","De_novo","PTCHD1","nonsynonymous SNV","PTCHD1:NM_173495:exon2:c.880C>T:p.R294C","patched domain containing 1","-1.46720751 (4.15605%)","0.947053079(14.9794%)","Xp22.11","-","0.983:D","-","-","-","-"]
[5884,"Male","chr2",166198843,166198843,"A","G","Het","Dmis","De_novo","SCN2A","nonsynonymous SNV","SCN2A:NM_001040143:exon14:c.2426A>G:p.K809R,SCN2A:NM_001040142:exon15:c.2426A>G:p.K809R,SCN2A:NM_021007:exon15:c.2426A>G:p.K809R","sodium voltage-gated channel alpha subunit 2","-2.505757944 (1.05348%)","0.999999992(0.7243%)","2q24.3","-","0.980:D","-","-","-","-"]
[5955,"Female","chrX",53436051,53436051,"C","T","Het","Dmis","De_novo","SMC1A","nonsynonymous SNV","SMC1A:NM_006306:exon9:c.1487G>A:p.R496H,SMC1A:NM_001281463:exon10:c.1421G>A:p.R474H","structural maintenance of chromosomes 1A","-1.950420145 (2.13012%)","0.999988494(2.5569%)","Xp11.22","rs122454123","0.973:D","-","-","-","-"]
[6720,"Male","chr6",152671433,152671433,"T","G","Het","Dmis","De_novo","SYNE1","nonsynonymous SNV","SYNE1:NM_182961:exon72:c.11771A>C:p.H3924P","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.2","rs756029164","0.798:D","-","-","-","-"]
[7072,"Male","chr12",13724844,13724844,"C","T","Het","Dmis","De_novo","GRIN2B","nonsynonymous SNV","GRIN2B:NM_000834:exon10:c.2065G>A:p.G689S","glutamate ionotropic receptor NMDA type subunit 2B","-2.476366832 (1.09979%)","0.999994896(2.1948%)","12p13.1","rs869312868","0.847:D","-","-","-","-"]
[7498,"Male","chr6",33400537,33400537,"A","-","Het","PTV","De_novo","SYNGAP1","frameshift deletion","SYNGAP1:NM_001130066:exon5:c.463delA:p.S155Afs*18,SYNGAP1:NM_006772:exon5:c.463delA:p.S155Afs*18","synaptic Ras GTPase activating protein 1","-2.294718003 (1.36027%)","0.99999845(1.7942%)","6p21.32","-","-","-","-","-","-"]
[7774,"Female","chr12",116408546,116408546,"G","A","Het","PTV","De_novo","MED13L","stopgain","MED13L:NM_015335:exon27:c.5920C>T:p.R1974X","mediator complex subunit 13 like","-1.606592776 (3.33989%)","0.999999999(0.5706%)","12q24.21","-","0.729:D","-","-","-","-"]
[7924,"Male","chr15",52620200,52620200,"A","T","Het","Dmis","De_novo","MYO5A","nonsynonymous SNV","MYO5A:NM_001142495:exon34:c.4403T>A:p.L1468Q,MYO5A:NM_000259:exon35:c.4484T>A:p.L1495Q","myosin VA","-2.122805557 (1.65548%)","0.992129667(9.3388%)","15q21.2","-","0.941:D","-","-","-","-"]
[6129,"Male","chr7",140501302,140501302,"T","C","Het","Dmis","De_novo","BRAF","nonsynonymous SNV","BRAF:NM_004333:exon6:c.770A>G:p.Q257R","B-Raf proto-oncogene, serine/threonine kinase","-0.965257977 (9.62607%)","0.999978196(2.8258%)","7q34","rs180177035","0.974:D","-","-","-","-"]
[6135,"Male","chr3",4687362,4687362,"C","T","Het","Dmis","De_novo","ITPR1","nonsynonymous SNV","ITPR1:NM_001099952:exon10:c.805C>T:p.R269W,ITPR1:NM_001168272:exon10:c.805C>T:p.R269W,ITPR1:NM_002222:exon10:c.805C>T:p.R269W","inositol 1,4,5-trisphosphate receptor type 1","-4.625568658 (0.138921%)","1(0.2689%)","3p26.1","rs886039392","0.952:D","-","-","-","-"]
[6666,"Male","chr20",49510877,49510878,"AT","-","Het","PTV","De_novo","ADNP","frameshift deletion","ADNP:NM_001282532:exon4:c.373_374del:p.I125fs*0,ADNP:NM_181442:exon4:c.373_374del:p.I125fs*0,ADNP:NM_001347511:exon5:c.373_374del:p.I125fs*0,ADNP:NM_015339:exon5:c.373_374del:p.I125fs*0,ADNP:NM_001282531:exon6:c.373_374del:p.I125fs*0","activity-dependent neuroprotector homeobox","-1.542847722 (3.71614%)","0.9989041(5.9753%)","20q13.13","-","-","-","-","-","-"]
[6361,"Male","chr7",103275963,103275963,"C","T","Het","Dmis","De_novo","RELN","nonsynonymous SNV","RELN:NM_005045:exon19:c.2374G>A:p.G792S,RELN:NM_173054:exon19:c.2374G>A:p.G792S","reelin","-1.431203386 (4.36444%)","1(0.0823%)","7q22.1","-","0.789:D","-","-","-","-"]
[6687,"Female","chrX",153296882,153296882,"G","A","Het","Dmis","De_novo","MECP2","nonsynonymous SNV","MECP2:NM_001110792:exon3:c.433C>T:p.R145C,MECP2:NM_004992:exon4:c.397C>T:p.R133C,MECP2:NM_001316337:exon5:c.118C>T:p.R40C","methyl-CpG binding protein 2","-0.320453986 (30.2501%)","0.698089048(24.6200%)","Xq28","rs28934904","0.999:D","-","-","-","-"]
[8734,"Male","chr1",153791344,153791344,"G","A","Het","PTV","De_novo","GATAD2B","stopgain","GATAD2B:NM_020699:exon4:c.520C>T:p.R174X","GATA zinc finger domain containing 2B","-0.647683512 (16.9194%)","0.998594716(6.3429%)","1q21.3","-","0.705:D","-","-","-","-"]
[8743,"Female","chrX",53239925,53239925,"T","C","Het","Dmis","De_novo","KDM5C","nonsynonymous SNV","KDM5C:NM_001146702:exon9:c.1315A>G:p.M439V,KDM5C:NM_001282622:exon11:c.1513A>G:p.M505V,KDM5C:NM_004187:exon11:c.1516A>G:p.M506V","lysine demethylase 5C","-2.70621882 (0.879833%)","0.997842569(7.0178%)","Xp11.22","-","0.945:D","-","-","-","-"]
[9246,"Male","chr20",49510709,49510712,"CTAA","-","Het","PTV","De_novo","ADNP","frameshift deletion","ADNP:NM_001282532:exon4:c.539_542del:p.V180Gfs*16,ADNP:NM_181442:exon4:c.539_542del:p.V180Gfs*16,ADNP:NM_001347511:exon5:c.539_542del:p.V180Gfs*16,ADNP:NM_015339:exon5:c.539_542del:p.V180Gfs*16,ADNP:NM_001282531:exon6:c.539_542del:p.V180Gfs*16","activity-dependent neuroprotector homeobox","-1.542847722 (3.71614%)","0.9989041(5.9753%)","20q13.13","rs1057518345","-","-","-","-","-"]
[9271,"Male","chr17",18138409,18138409,"A","G","Het","Dmis","De_novo","LLGL1","nonsynonymous SNV","LLGL1:NM_004140:exon10:c.1067A>G:p.D356G","lethal giant larvae homolog 1, scribble cell polarity complex component","-1.695070442 (2.9405%)","0.977463207(12.0988%)","17p11.2","-","0.864:D","-","-","-","-"]
[9284,"Female","chr12",116428913,116428913,"C","-","Het","PTV","De_novo","MED13L","frameshift deletion","MED13L:NM_015335:exon17:c.3846delG:p.R1283Gfs*16","mediator complex subunit 13 like","-1.606592776 (3.33989%)","0.999999999(0.5706%)","12q24.21","-","-","-","-","-","-"]
[9291,"Male","chr13",110826997,110826997,"C","T","Het","Dmis","De_novo","COL4A1","nonsynonymous SNV","COL4A1:NM_001845:exon38:c.3298G>A:p.G1100R","collagen type IV alpha 1","-2.215526027 (1.48182%)","0.999999981(0.8450%)","13q34","-","0.998:D","-","-","-","-"]
[9338,"Female","chr22",51159932,51159932,"-","G","Het","PTV","De_novo","SHANK3","frameshift insertion","SHANK3:NM_033517:exon21:c.3630dupG:p.A1213Gfs*68","SH3 and multiple ankyrin repeat domains 3","-","0.99983962(4.1317%)","22q13.33","rs797044936","-",{"v":6.38e-05,"d":"6.38E-05"},0,"-","-"]
[9362,"Male","chr17",76492050,76492050,"A","G","Het","Dmis","De_novo","DNAH17","nonsynonymous SNV","DNAH17:NM_173628:exon38:c.5810T>C:p.I1937T","dynein axonemal heavy chain 17","-","-","17q25.3","rs201665236","0.809:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":0,"d":"0.00E+00"},{"v":6.46e-05,"d":"6.46E-05"},0]
[9374,"Male","chr15",28414648,28414648,"A","C","Het","Dmis","De_novo","HERC2","nonsynonymous SNV","HERC2:NM_004667:exon66:c.10211T>G:p.L3404W","HECT and RLD domain containing E3 ubiquitin protein ligase 2","-4.457155603 (0.162075%)","1(0.0055%)","15q13.1","-","0.858:D","-","-","-","-"]
[9610,"Male","chr2",50723189,50723189,"A","T","Het","Dmis","De_novo","NRXN1","nonsynonymous SNV","NRXN1:NM_001330087:exon10:c.2813T>A:p.I938N,NRXN1:NM_001330096:exon10:c.2813T>A:p.I938N,NRXN1:NM_001330083:exon11:c.2858T>A:p.I953N,NRXN1:NM_001330084:exon11:c.2858T>A:p.I953N,NRXN1:NM_001330088:exon11:c.2843T>A:p.I948N,NRXN1:NM_001330095:exon13:c.2873T>A:p.I958N,NRXN1:NM_001330077:exon14:c.2900T>A:p.I967N,NRXN1:NM_001330082:exon14:c.2900T>A:p.I967N,NRXN1:NM_001330085:exon14:c.2897T>A:p.I966N,NRXN1:NM_001330094:exon14:c.2912T>A:p.I971N,NRXN1:NM_001330078:exon15:c.2924T>A:p.I975N,NRXN1:NM_001330086:exon15:c.2924T>A:p.I975N,NRXN1:NM_001330093:exon15:c.2921T>A:p.I974N,NRXN1:NM_004801:exon15:c.2924T>A:p.I975N,NRXN1:NM_001135659:exon16:c.3044T>A:p.I1015N","neurexin 1","-1.883401977 (2.29799%)","0.999948738(3.2209%)","2p16.3","-","0.922:D",0,0,"-","-"]
[9821,"Male","chr11",687941,687941,"C","T","Het","Dmis","De_novo","DEAF1","nonsynonymous SNV","DEAF1:NM_001293634:exon4:c.634G>A:p.G212S,DEAF1:NM_021008:exon4:c.634G>A:p.G212S","DEAF1, transcription factor","-0.591294098 (18.7833%)","0.000193157(69.8546%)","11p15.5","rs1057519565","0.975:D","-","-","-","-"]
[9907,"Female","chrX",5811646,5811646,"-","AAAGCGGTTGGGT","Het","PTV","De_novo","NLGN4X","stopgain","NLGN4X:NM_001282146:exon6:c.1662_1663insACCCAACCGCTTT:p.E555Tfs*4,NLGN4X:NM_020742:exon6:c.1662_1663insACCCAACCGCTTT:p.E555Tfs*4,NLGN4X:NM_181332:exon6:c.1662_1663insACCCAACCGCTTT:p.E555Tfs*4,NLGN4X:NM_001282145:exon7:c.1662_1663insACCCAACCGCTTT:p.E555Tfs*4","neuroligin 4, X-linked","-1.616285515 (3.2878%)","0.932298559(15.9177%)","Xp22.32","-","-","-","-","-","-"]
[9907,"Female","chr10",114911555,114911555,"T","G","Het","Dmis","De_novo","TCF7L2","nonsynonymous SNV","TCF7L2:NM_001349870:exon6:c.644T>G:p.M215R,TCF7L2:NM_001349871:exon6:c.524T>G:p.M175R,TCF7L2:NM_001198530:exon8:c.902T>G:p.M301R,TCF7L2:NM_001146284:exon9:c.992T>G:p.M331R,TCF7L2:NM_001146285:exon9:c.1004T>G:p.M335R,TCF7L2:NM_001146286:exon9:c.1004T>G:p.M335R,TCF7L2:NM_001198525:exon9:c.1019T>G:p.M340R,TCF7L2:NM_001198526:exon9:c.1004T>G:p.M335R,TCF7L2:NM_001198527:exon9:c.992T>G:p.M331R,TCF7L2:NM_001198528:exon9:c.1004T>G:p.M335R,TCF7L2:NM_001198529:exon9:c.1004T>G:p.M335R,TCF7L2:NM_030756:exon9:c.1004T>G:p.M335R,TCF7L2:NM_001146274:exon10:c.1073T>G:p.M358R,TCF7L2:NM_001146283:exon10:c.1145T>G:p.M382R,TCF7L2:NM_001198531:exon10:c.1073T>G:p.M358R","transcription factor 7 like 2","-0.890122996 (11.0269%)","0.989605029(9.9753%)","10q25.3","-","0.998:D","-","-","-","-"]
[9925,"Female","chrX",48762401,48762401,"C","A","Het","Dmis","De_novo","SLC35A2","nonsynonymous SNV","SLC35A2:NM_001282649:exon3:c.602G>T:p.G201V,SLC35A2:NM_001042498:exon4:c.785G>T:p.G262V,SLC35A2:NM_001282650:exon4:c.824G>T:p.G275V,SLC35A2:NM_005660:exon4:c.785G>T:p.G262V,SLC35A2:NM_001282651:exon5:c.869G>T:p.G290V","solute carrier family 35 member A2","-0.463947701 (23.3156%)","0.780526259(22.2112%)","Xp11.23","-","0.972:D","-","-","-","-"]
["A94","Male","chr9",138670667,138670667,"C","T","Het","Dmis","De_novo","KCNT1","nonsynonymous SNV;potential splicing","KCNT1:NM_001272003:exon22:c.2593C>T:p.R865W,KCNT1:NM_020822:exon23:c.2728C>T:p.R910W","-","-","0.005348738(57.7503%)","9q34.3","-","0.918:D",{"v":4.07E-6,"d":"4.07E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A49","Male","chr6",87968627,87968640,"AATTATTAAAACTG","-","Het","PTV","De_novo","ZNF292","frameshift deletion","ZNF292:NM_015021:exon8:c.5280_5293del:p.E1760Dfs*7,ZNF292:NM_001351444:exon9:c.4860_4873del:p.E1620Dfs*7","zinc finger protein 292","-1.056743456 (8.3179%)","0.999976984(2.8752%)","6q14.3","-","-","-","-","-","-"]
["A148","Female","chr1",197101428,197101428,"C","T","Het","Dmis","De_novo","ASPM","nonsynonymous SNV","ASPM:NM_001206846:exon7:c.2474G>A:p.R825Q,ASPM:NM_018136:exon7:c.2474G>A:p.R825Q","abnormal spindle microtubule assembly","0.345649059 (71.4459%)","6.16E-26(99.3690%)","1q31.3","rs766198125","0.845:D",{"v":8.13e-06,"d":"8.13E-06"},0,"-","-"]
[9851,"Female","chr20",62065250,62065250,"A","C","Het","Dmis","De_novo","KCNQ2","nonsynonymous SNV","KCNQ2:NM_004518:exon8:c.1030T>G:p.W344G,KCNQ2:NM_172106:exon8:c.1030T>G:p.W344G,KCNQ2:NM_172107:exon8:c.1030T>G:p.W344G,KCNQ2:NM_172108:exon8:c.1030T>G:p.W344G,KCNQ2:NM_172109:exon8:c.1030T>G:p.W344G","potassium voltage-gated channel subfamily Q member 2","-1.249109188 (5.96782%)","0.999356099(5.3937%)","20q13.33","-","0.993:D","-","-","-","-"]
["A617","Male","chr2",166243526,166243526,"G","A","Het","Dmis","De_novo","SCN2A","nonsynonymous SNV;potential splicing","SCN2A:NM_001040143:exon25:c.4822G>A:p.G1608R,SCN2A:NM_001040142:exon26:c.4822G>A:p.G1608R,SCN2A:NM_021007:exon26:c.4822G>A:p.G1608R","-","-","0.999999992(0.7243%)","2q24.3","rs796053154","0.985:D","-","-","-","-"]
[7666,"Male","chr22",41574829,41574829,"A","G","Het","Dmis","De_novo","EP300","nonsynonymous SNV","EP300:NM_001429:exon31:c.7114A>G:p.M2372V","E1A binding protein p300","-4.105042369 (0.237323%)","1(0.2085%)","22q13.2","rs768061933","0.825:D",{"v":5.28e-05,"d":"5.28E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
[7666,"Male","chr2",50765722,50765722,"A","C","Het","Dmis","De_novo","NRXN1","nonsynonymous SNV","NRXN1:NM_001330087:exon6:c.1728T>G:p.S576R,NRXN1:NM_001330096:exon6:c.1728T>G:p.S576R,NRXN1:NM_001330083:exon7:c.1773T>G:p.S591R,NRXN1:NM_001330084:exon7:c.1773T>G:p.S591R,NRXN1:NM_001330088:exon7:c.1758T>G:p.S586R,NRXN1:NM_001330077:exon9:c.1788T>G:p.S596R,NRXN1:NM_001330082:exon9:c.1788T>G:p.S596R,NRXN1:NM_001330094:exon9:c.1800T>G:p.S600R,NRXN1:NM_001330095:exon9:c.1788T>G:p.S596R,NRXN1:NM_001330078:exon10:c.1812T>G:p.S604R,NRXN1:NM_001330085:exon10:c.1812T>G:p.S604R,NRXN1:NM_001330086:exon10:c.1812T>G:p.S604R,NRXN1:NM_001330093:exon10:c.1809T>G:p.S603R,NRXN1:NM_004801:exon10:c.1812T>G:p.S604R,NRXN1:NM_001135659:exon11:c.1932T>G:p.S644R","neurexin 1","-1.883401977 (2.29799%)","0.999948738(3.2209%)","2p16.3","-","0.907:D","-","-","-","-"]
["A758","Male","chr9",2115967,2115967,"C","A","Het","Dmis","De_novo","SMARCA2","nonsynonymous SNV","SMARCA2:NM_001289396:exon25:c.3602C>A:p.A1201E,SMARCA2:NM_001289397:exon25:c.3428C>A:p.A1143E,SMARCA2:NM_003070:exon25:c.3602C>A:p.A1201E,SMARCA2:NM_139045:exon25:c.3602C>A:p.A1201E","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2","-2.378550914 (1.22135%)","0.999998264(1.8820%)","9p24.3","-","0.935:D","-","-","-","-"]
["A1299","Female","chr22",42605926,42605927,"CA","-","Het","PTV","De_novo","TCF20","frameshift deletion","TCF20:NM_181492:exon1:c.5385_5386del:p.C1795Wfs*13,TCF20:NM_005650:exon2:c.5385_5386del:p.C1795Wfs*13","transcription factor 20 (AR1)","-3.824233709 (0.341514%)","0.999977934(2.8368%)","22q13.2","rs869312678","-","-","-","-","-"]
["A1813","Male","chr17",3591333,3591333,"G","C","Het","Dmis","De_novo","P2RX5","nonsynonymous SNV","P2RX5:NM_001204520:exon8:c.882C>G:p.I294M,P2RX5:NM_175080:exon8:c.879C>G:p.I293M,P2RX5:NM_001204519:exon9:c.951C>G:p.I317M,P2RX5:NM_002561:exon9:c.954C>G:p.I318M","purinergic receptor P2X 5","0.505084658 (78.392%)","1.83E-05(76.4390%)","17p13.2","-","0.896:D","-","-","-","-"]
["A1885","Male","chr10",79743724,79743724,"A","C","Het","Dmis","De_novo","POLR3A","nonsynonymous SNV","POLR3A:NM_007055:exon26:c.3383T>G:p.I1128S","polymerase (RNA) III subunit A","-2.256686659 (1.40079%)","7.39E-14(96.1756%)","10q22.3","-","0.909:D","-","-","-","-"]
["A1885","Male","chr1",8418427,8418427,"T","C","Het","Dmis","De_novo","RERE","nonsynonymous SNV","RERE:NM_001042682:exon10:c.2506A>G:p.M836V,RERE:NM_001042681:exon20:c.4168A>G:p.M1390V,RERE:NM_012102:exon21:c.4168A>G:p.M1390V","arginine-glutamic acid dipeptide (RE) repeats","-2.692017503 (0.897198%)","0.999995655(2.1509%)","1p36.23","-","0.801:D","-","-","-","-"]
["A1897","Male","chr10",123247584,123247584,"T","G","Het","Dmis","De_novo","FGFR2","nonsynonymous SNV","FGFR2:NM_001144914:exon11:c.1571A>C:p.E524A,FGFR2:NM_001144916:exon11:c.1562A>C:p.E521A,FGFR2:NM_001144917:exon12:c.1559A>C:p.E520A,FGFR2:NM_001144918:exon12:c.1556A>C:p.E519A,FGFR2:NM_023029:exon12:c.1640A>C:p.E547A,FGFR2:NM_001144913:exon13:c.1910A>C:p.E637A,FGFR2:NM_001144915:exon13:c.1640A>C:p.E547A,FGFR2:NM_001144919:exon13:c.1643A>C:p.E548A,FGFR2:NM_001320654:exon13:c.1223A>C:p.E408A,FGFR2:NM_000141:exon14:c.1907A>C:p.E636A,FGFR2:NM_001320658:exon14:c.1901A>C:p.E634A,FGFR2:NM_022970:exon14:c.1910A>C:p.E637A","fibroblast growth factor receptor 2","-1.085865264 (7.94744%)","0.999752493(4.4170%)","10q26.13","-","0.881:D","-","-","-","-"]
["A992","Female","chrX",53228240,53228240,"C","A","Het","Dmis","De_novo","KDM5C","nonsynonymous SNV","KDM5C:NM_001146702:exon13:c.1961G>T:p.C654F,KDM5C:NM_001282622:exon15:c.2159G>T:p.C720F,KDM5C:NM_004187:exon15:c.2162G>T:p.C721F","lysine demethylase 5C","-2.70621882 (0.879833%)","0.997842569(7.0178%)","Xp11.22","-","0.990:D","-","-","-","-"]
["A913","Female","chr2",200233345,200233345,"T","-","Het","PTV","De_novo","SATB2","frameshift deletion","SATB2:NM_001172509:exon6:c.683delA:p.K228Sfs*30,SATB2:NM_001172517:exon7:c.683delA:p.K228Sfs*30,SATB2:NM_015265:exon7:c.683delA:p.K228Sfs*30","SATB homeobox 2","-1.308470499 (5.37161%)","0.999563007(4.9712%)","2q33.1","-","-","-","-","-","-"]
["A916","Female","chr12",49426469,49426469,"G","A","Het","PTV","De_novo","KMT2D","stopgain","KMT2D:NM_003482:exon39:c.12019C>T:p.Q4007X","lysine methyltransferase 2D","-5.184334326 (0.0810373%)","1(0.0988%)","12q13.12","-","0.635:T","-","-","-","-"]
["A2092","Female","chr1",155451211,155451211,"G","A","Het","PTV","De_novo","ASH1L","stopgain","ASH1L:NM_018489:exon3:c.1450C>T:p.R484X","ash1 (absent, small, or homeotic)-like (Drosophila)","-3.88480184 (0.312572%)","1(0.1591%)","1q22","-","0.671:T","-","-","-","-"]
["A1957","Male","chr3",41275679,41275680,"CA","-","Het","PTV","De_novo","CTNNB1","frameshift deletion","CTNNB1:NM_001098209:exon10:c.1574_1575del:p.P526Ffs*2,CTNNB1:NM_001098210:exon10:c.1574_1575del:p.P526Ffs*2,CTNNB1:NM_001904:exon10:c.1574_1575del:p.P526Ffs*2,CTNNB1:NM_001330729:exon11:c.1553_1554del:p.P519Ffs*2","catenin beta 1","-1.072890114 (8.10373%)","0.99981275(4.1975%)","3p22.1","-","-","-","-","-","-"]
["A1951","Female","chrX",41712458,41712458,"G","A","Het","PTV","De_novo","CASK","stopgain","CASK:NM_001126054:exon2:c.82C>T:p.R28X,CASK:NM_001126055:exon2:c.82C>T:p.R28X,CASK:NM_003688:exon2:c.82C>T:p.R28X","calcium/calmodulin-dependent serine protein kinase (MAGUK family)","-1.51705173 (3.87242%)","0.999885705(3.8244%)","Xp11.4","rs587783370","0.648:T","-","-","-","-"]
["A671","Male","chr3",135870926,135870927,"AG","-","Het","PTV","De_novo","MSL2","frameshift deletion","MSL2:NM_001145417:exon2:c.574_575del:p.L192Vfs*3,MSL2:NM_018133:exon2:c.796_797del:p.L266Vfs*3","male-specific lethal 2 homolog (Drosophila)","-0.718445538 (15.0093%)","0.889663742(18.1893%)","3q22.3","-","-","-","-","-","-"]
["A2239","Female","chr7",107569526,107569526,"G","-","Het","PTV","De_novo","LAMB1","frameshift deletion","LAMB1:NM_002291:exon31:c.4870delC:p.Q1624Rfs*3","laminin subunit beta 1","-1.235752647 (6.17041%)","1.79E-06(81.4540%)","7q31.1","-","-","-","-","-","-"]
["A2410","Female","chr1",27875659,27875659,"G","A","Het","PTV","De_novo","AHDC1","stopgain","AHDC1:NM_001029882:exon6:c.2968C>T:p.Q990X","AT-hook DNA binding motif containing 1","-2.166626001 (1.58602%)","0.999431448(5.2675%)","1p36.11","-","0.727:D","-","-","-","-"]
["A2658","Male","chr5",139494178,139494178,"G","T","Het","PTV","De_novo","PURA","stopgain","PURA:NM_005859:exon1:c.412G>T:p.E138X","purine-rich element binding protein A","-0.425560413 (25.0926%)","0.845099484(20.0274%)","5q31.2","-","0.729:D","-","-","-","-"]
["A2628","Male","chr7",70228014,70228014,"C","T","Het","PTV","De_novo","AUTS2","stopgain","AUTS2:NM_001127231:exon7:c.901C>T:p.Q301X,AUTS2:NM_015570:exon7:c.901C>T:p.Q301X","autism susceptibility candidate 2","-1.963042912 (2.0896%)","0.996187482(7.8573%)","7q11.22","-","0.855:D","-","-","-","-"]
["A2434","Female","chr3",41267184,41267184,"-","A","Het","PTV","De_novo","CTNNB1","frameshift insertion","CTNNB1:NM_001098209:exon6:c.769dupA:p.T257Nfs*13,CTNNB1:NM_001098210:exon6:c.769dupA:p.T257Nfs*13,CTNNB1:NM_001904:exon6:c.769dupA:p.T257Nfs*13,CTNNB1:NM_001330729:exon7:c.748dupA:p.T250Nfs*13","catenin beta 1","-1.072890114 (8.10373%)","0.99981275(4.1975%)","3p22.1","-","-","-","-","-","-"]
["A2534","Female","chrX",153296516,153296516,"G","A","Het","PTV","De_novo","MECP2","stopgain","MECP2:NM_001110792:exon3:c.799C>T:p.R267X,MECP2:NM_004992:exon4:c.763C>T:p.R255X,MECP2:NM_001316337:exon5:c.484C>T:p.R162X","methyl-CpG binding protein 2","-0.320453986 (30.2501%)","0.698089048(24.6200%)","Xq28","rs61749721","0.670:T","-","-","-","-"]
["A2513","Female","chr2",241725854,241725854,"C","G","Het","Dmis","De_novo","KIF1A","nonsynonymous SNV","KIF1A:NM_001244008:exon6:c.506G>C:p.R169T,KIF1A:NM_001320705:exon6:c.506G>C:p.R169T,KIF1A:NM_001330289:exon6:c.506G>C:p.R169T,KIF1A:NM_001330290:exon6:c.506G>C:p.R169T,KIF1A:NM_004321:exon6:c.506G>C:p.R169T","kinesin family member 1A","-2.95475663 (0.723547%)","0.999989437(2.5240%)","2q37.3","-","0.945:D","-","-","-","-"]
["A2758","Female","chr1",155451241,155451241,"T","A","Het","PTV","De_novo","ASH1L","stopgain","ASH1L:NM_018489:exon3:c.1420A>T:p.K474X","ash1 (absent, small, or homeotic)-like (Drosophila)","-3.88480184 (0.312572%)","1(0.1591%)","1q22","-","0.664:T","-","-","-","-"]
["A2833","Male","chr14",97342383,97342383,"T","-","Het","PTV","De_novo","VRK1","frameshift deletion","VRK1:NM_003384:exon12:c.1085delT:p.I362Mfs*64","vaccinia related kinase 1","-0.324809181 (30.0359%)","0.042898405(47.8189%)","14q32.2","-","-","-","-","-","-"]
["A2833","Male","chr17",18141042,18141042,"G","A","Het","Dmis","De_novo","LLGL1","nonsynonymous SNV","LLGL1:NM_004140:exon14:c.1859G>A:p.G620D","lethal giant larvae homolog 1, scribble cell polarity complex component","-1.695070442 (2.9405%)","0.977463207(12.0988%)","17p11.2","-","0.968:D","-","-","-","-"]
["A2674","Female","chr20",47991082,47991082,"C","G","Het","Dmis","De_novo","KCNB1","nonsynonymous SNV","KCNB1:NM_004975:exon2:c.1015G>C:p.A339P","potassium voltage-gated channel subfamily B member 1","-0.266236653 (33.2137%)","0.98258787(11.2977%)","20q13.13","-","0.990:D","-","-","-","-"]
["A2677","Male","chr20",62126415,62126415,"C","T","Het","Dmis","De_novo","EEF1A2","nonsynonymous SNV","EEF1A2:NM_001958:exon4:c.364G>A:p.E122K","eukaryotic translation elongation factor 1 alpha 2","-0.723601506 (14.8646%)","0.964131454(13.5254%)","20q13.33","rs786205866","0.922:D","-","-","-","-"]
["A2716","Male","chr15",93492201,93492201,"G","A","Het","Dmis","De_novo","CHD2","nonsynonymous SNV","CHD2:NM_001042572:exon13:c.1397G>A:p.R466Q,CHD2:NM_001271:exon13:c.1397G>A:p.R466Q","chromodomain helicase DNA binding protein 2","-2.675987475 (0.92614%)","0.999999999(0.5487%)","15q26.1","-","0.819:D","-","-","-","-"]
["A2719","Male","chr12",116446221,116446224,"CTCT","-","Het","PTV","De_novo","MED13L","frameshift deletion","MED13L:NM_015335:exon10:c.1994_1997del:p.E665Afs*7","mediator complex subunit 13 like","-1.606592776 (3.33989%)","0.999999999(0.5706%)","12q24.21","-","-","-","-","-","-"]
["A2938","Female","chr2",166211176,166211177,"AA","-","Het","PTV","De_novo","SCN2A","frameshift deletion","SCN2A:NM_001040143:exon16:c.3394_3395del:p.K1132Rfs*6,SCN2A:NM_001040142:exon17:c.3394_3395del:p.K1132Rfs*6,SCN2A:NM_021007:exon17:c.3394_3395del:p.K1132Rfs*6","sodium voltage-gated channel alpha subunit 2","-2.505757944 (1.05348%)","0.999999992(0.7243%)","2q24.3","-","-","-","-","-","-"]
["A3010","Male","chrX",153296882,153296882,"G","A","Het","Dmis","De_novo","MECP2","nonsynonymous SNV","MECP2:NM_001110792:exon3:c.433C>T:p.R145C,MECP2:NM_004992:exon4:c.397C>T:p.R133C,MECP2:NM_001316337:exon5:c.118C>T:p.R40C","methyl-CpG binding protein 2","-0.320453986 (30.2501%)","0.698089048(24.6200%)","Xq28","rs28934904","0.999:D","-","-","-","-"]
["A3031","Female","chr2",166164398,166164398,"T","C","Het","Dmis","De_novo","SCN2A","nonsynonymous SNV","SCN2A:NM_001040143:exon3:c.427T>C:p.C143R,SCN2A:NM_001040142:exon4:c.427T>C:p.C143R,SCN2A:NM_021007:exon4:c.427T>C:p.C143R","sodium voltage-gated channel alpha subunit 2","-2.505757944 (1.05348%)","0.999999992(0.7243%)","2q24.3","-","0.998:D","-","-","-","-"]
["A3154","Male","chr10",89692980,89692980,"A","G","Het","Dmis","De_novo","PTEN","nonsynonymous SNV","PTEN:NM_000314:exon5:c.464A>G:p.Y155C,PTEN:NM_001304717:exon6:c.983A>G:p.Y328C","phosphatase and tensin homolog","-0.161420196 (39.222%)","0.975506866(12.3237%)","10q23.31","rs1060500126","0.999:D","-","-","-","-"]
["A3210","Male","chr1",43393298,43393298,"C","T","Het","Dmis","De_novo","SLC2A1","nonsynonymous SNV","SLC2A1:NM_006516:exon9:c.1256G>A:p.G419D","solute carrier family 2 member 1","-0.915582298 (10.4885%)","0.93980813(15.5556%)","1p34.2","-","0.987:D","-","-","-","-"]
["A3234","Female","chr7",151900141,151900142,"CA","-","Het","PTV","De_novo","KMT2C","frameshift deletion","KMT2C:NM_170606:exon26:c.3969_3970del:p.S1323Rfs*8","lysine methyltransferase 2C","-0.714419772 (15.1192%)","1(0.0878%)","7q36.1","-","-","-","-","-","-"]
["A3302","Male","chr1",36380991,36380991,"A","-","Het","PTV","De_novo","AGO1","frameshift deletion","AGO1:NM_001317123:exon15:c.1651delA:p.T551Lfs*154,AGO1:NM_012199:exon15:c.1876delA:p.T626Lfs*154","argonaute 1, RISC catalytic component","-1.692333103 (2.95207%)","0.999999463(1.4705%)","1p34.3","-","-","-","-","-","-"]
["A3343","Female","chr2",60773343,60773343,"G","A","Het","PTV","De_novo","BCL11A","stopgain","BCL11A:NM_018014:exon2:c.148C>T:p.Q50X,BCL11A:NM_022893:exon2:c.148C>T:p.Q50X,BCL11A:NM_138559:exon2:c.148C>T:p.Q50X","B-cell CLL/lymphoma 11A","-1.669838259 (3.06784%)","0.828999685(20.6255%)","2p16.1","-","0.790:D","-","-","-","-"]
["A3403","Male","chr1",151378522,151378522,"G","A","Het","PTV","De_novo","POGZ","stopgain","POGZ:NM_145796:exon17:c.2704C>T:p.R902X,POGZ:NM_207171:exon17:c.2830C>T:p.R944X,POGZ:NM_001194938:exon18:c.2803C>T:p.R935X,POGZ:NM_001194937:exon19:c.2962C>T:p.R988X,POGZ:NM_015100:exon19:c.2989C>T:p.R997X","pogo transposable element with ZNF domain","-1.961456256 (2.09539%)","0.999999128(1.6022%)","1q21.3","-","0.631:T","-","-","-","-"]
["A3333","Male","chr2",60688516,60688516,"C","-","Het","PTV","De_novo","BCL11A","frameshift deletion","BCL11A:NM_018014:exon4:c.1531delG:p.V511Wfs*6,BCL11A:NM_022893:exon4:c.1531delG:p.V511Wfs*6","B-cell CLL/lymphoma 11A","-1.669838259 (3.06784%)","0.828999685(20.6255%)","2p16.1","-","-","-","-","-","-"]
["A3474","Female","chr5",10981886,10981886,"T","C","Het","Dmis","De_novo","CTNND2","nonsynonymous SNV;potential splicing","CTNND2:NM_001288716:exon18:c.2405A>G:p.Q802R,CTNND2:NM_001288715:exon20:c.3143A>G:p.Q1048R,CTNND2:NM_001288717:exon20:c.2117A>G:p.Q706R,CTNND2:NM_001332:exon21:c.3416A>G:p.Q1139R","-","-","0.999999952(0.9383%)","5p15.2","rs764766060","0.850:D",{"v":4.07E-6,"d":"4.07E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A3484","Male","chr22",42605906,42605906,"-","A","Het","PTV","De_novo","TCF20","frameshift insertion","TCF20:NM_181492:exon1:c.5405dupT:p.S1803Vfs*6,TCF20:NM_005650:exon2:c.5405dupT:p.S1803Vfs*6","transcription factor 20 (AR1)","-3.824233709 (0.341514%)","0.999977934(2.8368%)","22q13.2","-","-","-","-","-","-"]
["A3553","Male","chr11",118344185,118344185,"-","C","Het","PTV","De_novo","KMT2A","frameshift insertion","KMT2A:NM_001197104:exon3:c.2312dupC:p.S774Vfs*11,KMT2A:NM_005933:exon3:c.2312dupC:p.S774Vfs*11","lysine methyltransferase 2A","-4.13791644 (0.231535%)","1(0.0055%)","11q23.3","rs1057518649","-",0,0,"-","-"]
["A3559","Female","chr16",67645338,67645338,"-","A","Het","PTV","De_novo","CTCF","frameshift insertion","CTCF:NM_006565:exon3:c.604dupA:p.T204Nfs*25","CCCTC-binding factor","-1.477821378 (4.09238%)","0.997924958(6.9410%)","16q22.1","rs886041997","-",0,0,"-","-"]
["s3876","Female","chr8",41795020,41795030,"CTGTGACTACA","-","Het","PTV","De_novo","KAT6A","frameshift deletion","KAT6A:NM_006766:exon16:c.3096_3106del:p.S1032Rfs*4","lysine acetyltransferase 6A","-1.760216882 (2.72054%)","0.999999985(0.8011%)","8p11.21","-","-","-","-","-","-"]
["A931","Male","chr6",152563496,152563496,"T","C","Het","Dmis","De_novo","SYNE1","nonsynonymous SNV","SYNE1:NM_033071:exon106:c.19559A>G:p.Y6520C,SYNE1:NM_182961:exon107:c.19772A>G:p.Y6591C","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.2","rs759071467","0.830:D",{"v":8.12e-06,"d":"8.12E-06"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["A3474","Female","chr12",109972544,109972544,"T","C","Het","Dmis","De_novo","UBE3B","nonsynonymous SNV","UBE3B:NM_130466:exon28:c.3164T>C:p.L1055P,UBE3B:NM_183415:exon28:c.3164T>C:p.L1055P","ubiquitin protein ligase E3B","-2.422919179 (1.16925%)","0.009387706(55.1605%)","12q24.11","-","0.992:D","-","-","-","-"]
[6741,"Male","chr3",71037144,71037144,"C","T","Het","PTV","De_novo","FOXP1","splicing","NM_001244813:exon8:c.846+1G>A;NM_001244814:exon10:c.1146+1G>A;NM_001244815:exon9:c.1152+1G>A;NM_001244810:exon14:c.1146+1G>A;NM_001244816:exon13:c.1146+1G>A;NM_001244812:exon9:c.918+1G>A;NM_001244808:exon14:c.1146+1G>A;NM_032682:exon14:c.1146+1G>A;NM_001349344:exon8:c.843+1G>A;NM_001349342:exon9:c.846+1G>A;NM_001349343:exon9:c.843+1G>A;NM_001349338:exon14:c.1146+1G>A;NM_001349339:exon14:c.1146+1G>A;NM_001349340:exon13:c.1146+1G>A;NM_001349341:exon14:c.1143+1G>A;NM_001349337:exon9:c.1149+1G>A","forkhead box P1","-1.245360918 (6.03149%)","0.999750735(4.4225%)","3p13","-","0.750:D","-","-","-","-"]
["8555_TKD180402508-AK3185","Female","chr5",176639197,176639197,"G","T","Het","PTV","De_novo","NSD1","splicing","NM_172349:exon6:c.2989+1G>T;NM_022455:exon5:c.3796+1G>T","nuclear receptor binding SET domain protein 1","-2.678533507 (0.920352%)","0.999999999(0.5267%)","5q35.3","-","0.616:T","-","-","-","-"]
[7855,"Male","chr9",140728977,140728977,"G","C","Het","PTV","De_novo","EHMT1","splicing","NM_024757:exon26:c.3716+1G>C","euchromatic histone-lysine N-methyltransferase 1","-2.086730518 (1.73072%)","0.999999904(1.0809%)","9q34.3","-","0.708:D","-","-","-","-"]
["A886","Male","chr20",62103520,62103520,"C","T","Het","PTV","De_novo","KCNQ2","splicing","NM_004518:exon1:c.296+1G>A;NM_172106:exon1:c.296+1G>A;NM_172108:exon1:c.296+1G>A;NM_172107:exon1:c.296+1G>A;NM_172109:exon1:c.296+1G>A","potassium voltage-gated channel subfamily Q member 2","-1.249109188 (5.96782%)","0.999356099(5.3937%)","20q13.33","rs118192190","0.484:T","-","-","-","-"]
["A3040","Male","chr22",51153476,51153476,"G","A","Het","PTV","De_novo","SHANK3","splicing","NM_033517:exon19:c.2223+1G>A","SH3 and multiple ankyrin repeat domains 3","-","0.99983962(4.1317%)","22q13.33","-","-",{"v":6.32e-06,"d":"6.32E-06"},0,"-","-"]
[5306,"Male","chr3",71021784,71021784,"C","T","Het","Dmis","Inheritance_unknown","FOXP1","nonsynonymous SNV","FOXP1:NM_001244813:exon12:c.1274G>A:p.R425Q,FOXP1:NM_001349344:exon12:c.1271G>A:p.R424Q,FOXP1:NM_001244812:exon13:c.1346G>A:p.R449Q,FOXP1:NM_001244815:exon13:c.1580G>A:p.R527Q,FOXP1:NM_001349337:exon13:c.1577G>A:p.R526Q,FOXP1:NM_001349342:exon13:c.1274G>A:p.R425Q,FOXP1:NM_001349343:exon13:c.1271G>A:p.R424Q,FOXP1:NM_001244814:exon14:c.1574G>A:p.R525Q,FOXP1:NM_001244816:exon17:c.1574G>A:p.R525Q,FOXP1:NM_001349340:exon17:c.1574G>A:p.R525Q,FOXP1:NM_001244808:exon18:c.1571G>A:p.R524Q,FOXP1:NM_001349338:exon18:c.1574G>A:p.R525Q,FOXP1:NM_001349339:exon18:c.1574G>A:p.R525Q,FOXP1:NM_001349341:exon18:c.1571G>A:p.R524Q,FOXP1:NM_032682:exon18:c.1574G>A:p.R525Q","forkhead box P1","-1.245360918 (6.03149%)","0.999750735(4.4225%)","3p13","-","0.971:D","-","-","-","-"]
[9457,"Male","chr2",50733720,50733720,"G","T","Het","Dmis","Inheritance_unknown","NRXN1","nonsynonymous SNV","NRXN1:NM_001330087:exon8:c.2299C>A:p.L767I,NRXN1:NM_001330096:exon8:c.2299C>A:p.L767I,NRXN1:NM_001330083:exon9:c.2344C>A:p.L782I,NRXN1:NM_001330084:exon9:c.2344C>A:p.L782I,NRXN1:NM_001330088:exon9:c.2329C>A:p.L777I,NRXN1:NM_001330095:exon11:c.2359C>A:p.L787I,NRXN1:NM_001330077:exon12:c.2386C>A:p.L796I,NRXN1:NM_001330082:exon12:c.2386C>A:p.L796I,NRXN1:NM_001330085:exon12:c.2383C>A:p.L795I,NRXN1:NM_001330094:exon12:c.2398C>A:p.L800I,NRXN1:NM_001330078:exon13:c.2410C>A:p.L804I,NRXN1:NM_001330086:exon13:c.2410C>A:p.L804I,NRXN1:NM_001330093:exon13:c.2407C>A:p.L803I,NRXN1:NM_004801:exon13:c.2410C>A:p.L804I,NRXN1:NM_001135659:exon14:c.2530C>A:p.L844I","neurexin 1","-1.883401977 (2.29799%)","0.999948738(3.2209%)","2p16.3","rs763449110","0.810:D",{"v":1.63E-5,"d":"1.63E-05"},1E-4,"-","-"]
["s4543","Male","chr10",430545,430545,"G","A","Het","Dmis","Inheritance_unknown","DIP2C","nonsynonymous SNV","DIP2C:NM_014974:exon15:c.1697C>T:p.P566L","disco interacting protein 2 homolog C","-4.462072989 (0.156286%)","0.999999838(1.1578%)","10p15.3","-","0.981:D","-","-","-","-"]
["s3236","Female","chr4",56823509,56823509,"T","G","Het","Dmis","Inheritance_unknown","CEP135","nonsynonymous SNV","CEP135:NM_025009:exon5:c.593T>G:p.L198R","centrosomal protein 135kDa","-0.199553409 (36.9993%)","4.85E-17(97.7833%)","4q12","rs374714305","0.857:D",{"v":2.06e-05,"d":"2.06E-05"},{"v":1E-4,"d":"1.00E-04"},{"v":3.23e-05,"d":"3.23E-05"},0]
["s3272","Female","chr19",31768927,31768927,"A","G","Het","Dmis","Inheritance_unknown","TSHZ3","nonsynonymous SNV","TSHZ3:NM_020856:exon2:c.1772T>C:p.L591P","teashirt zinc finger homeobox 3","-0.774564325 (13.4927%)","0.425645582(32.0823%)","19q12","rs769191357","0.715:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["s3272","Female","chr8",141461351,141461351,"A","G","Het","Dmis","Inheritance_unknown","TRAPPC9","nonsynonymous SNV","TRAPPC9:NM_001160372:exon2:c.122T>C:p.V41A,TRAPPC9:NM_001321646:exon2:c.122T>C:p.V41A,TRAPPC9:NM_031466:exon2:c.416T>C:p.V139A","trafficking protein particle complex 9","-0.329836902 (29.8217%)","5.76E-06(79.2209%)","8q24.3","-","0.744:D","-","-","-","-"]
["s3275","Male","chr1",245025996,245025997,"TT","-","Het","PTV","Inheritance_unknown","HNRNPU","frameshift deletion","HNRNPU:NM_004501:exon2:c.670_671del:p.K224Efs*3,HNRNPU:NM_031844:exon2:c.727_728del:p.K243Efs*3","heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)","-0.727506195 (14.7198%)","0.999903323(3.6927%)","1q44","-","-","-","-","-","-"]
["s3858","Male","chr5",14390384,14390384,"A","T","Het","Dmis","Inheritance_unknown","TRIO","nonsynonymous SNV","TRIO:NM_007118:exon26:c.4103A>T:p.D1368V","trio Rho guanine nucleotide exchange factor","-4.532800748 (0.150498%)","1(0.1536%)","5p15.2","-","0.887:D","-","-","-","-"]
["s3858","Male","chr14",31539103,31539103,"C","G","Het","Dmis","Inheritance_unknown","AP4S1","nonsynonymous SNV","AP4S1:NM_001128126:exon3:c.193C>G:p.L65V,AP4S1:NM_001254726:exon3:c.193C>G:p.L65V,AP4S1:NM_001254727:exon3:c.193C>G:p.L65V,AP4S1:NM_001254728:exon3:c.193C>G:p.L65V,AP4S1:NM_001254729:exon3:c.193C>G:p.L65V,AP4S1:NM_007077:exon3:c.193C>G:p.L65V","adaptor related protein complex 4 sigma 1 subunit","0.304375634 (69.3795%)","1.34E-07(85.7064%)","14q12","-","0.854:D","-","-","-","-"]
["s3864","Female","chrX",70389793,70389793,"G","A","Het","Dmis","Inheritance_unknown","NLGN3","nonsynonymous SNV","NLGN3:NM_001166660:exon6:c.2273G>A:p.R758H,NLGN3:NM_001321276:exon7:c.1982G>A:p.R661H,NLGN3:NM_018977:exon7:c.2333G>A:p.R778H,NLGN3:NM_181303:exon8:c.2393G>A:p.R798H","neuroligin 3","-1.678519143 (3.02153%)","0.896227168(17.8711%)","Xq13.1","-","0.841:D",{"v":6.19E-6,"d":"6.19E-06"},0,"-","-"]
["s3879","Male","chr14",21876679,21876679,"C","T","Het","Dmis","Inheritance_unknown","CHD8","nonsynonymous SNV","CHD8:NM_001170629:exon12:c.2522G>A:p.G841D,CHD8:NM_020920:exon13:c.1685G>A:p.G562D","chromodomain helicase DNA binding protein 8","-2.361431018 (1.25029%)","1(0.2469%)","14q11.2","-","0.992:D","-","-","-","-"]
["s4133","Male","chr6",152673484,152673484,"A","G","Het","Dmis","Inheritance_unknown","SYNE1","nonsynonymous SNV","SYNE1:NM_033071:exon70:c.11213T>C:p.L3738S,SYNE1:NM_182961:exon70:c.11258T>C:p.L3753S","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.2","-","0.868:D","-","-","-","-"]
["s4145","Female","chr5",167933155,167933155,"T","G","Het","Dmis","Inheritance_unknown","RARS","nonsynonymous SNV","RARS:NM_002887:exon10:c.1187T>G:p.L396R","arginyl-tRNA synthetase","0.459160083 (76.4934%)","0.00053365(66.8148%)","5q34","-","0.924:D","-","-","-","-"]
["s4145","Female","chr1",197071592,197071592,"A","T","Het","Dmis","Inheritance_unknown","ASPM","nonsynonymous SNV","ASPM:NM_018136:exon18:c.6789T>A:p.H2263Q","abnormal spindle microtubule assembly","0.345649059 (71.4459%)","6.16E-26(99.3690%)","1q31.3","-","0.799:D","-","-","-","-"]
["s4157","Male","chr7",103141354,103141354,"C","A","Het","Dmis","Inheritance_unknown","RELN","nonsynonymous SNV","RELN:NM_005045:exon53:c.8505G>T:p.R2835S,RELN:NM_173054:exon53:c.8505G>T:p.R2835S","reelin","-1.431203386 (4.36444%)","1(0.0823%)","7q22.1","-","0.843:D","-","-","-","-"]
[5860,"Female","chr12",124107306,124107306,"A","C","Het","Dmis","Inheritance_unknown","EIF2B1","nonsynonymous SNV","EIF2B1:NM_001414:exon8:c.630T>G:p.I210M","eukaryotic translation initiation factor 2B subunit alpha","-0.134398656 (40.9875%)","0.104796388(42.7874%)","12q24.31","-","0.766:D","-","-","-","-"]
[5860,"Female","chr19",45992606,45992606,"G","C","Het","Dmis","Inheritance_unknown","RTN2","nonsynonymous SNV","RTN2:NM_206901:exon2:c.219C>G:p.F73L,RTN2:NM_206900:exon5:c.1020C>G:p.F340L,RTN2:NM_005619:exon6:c.1239C>G:p.F413L","reticulon 2","-0.287324479 (31.9576%)","0.636179982(26.3978%)","19q13.32","-","0.865:D","-","-","-","-"]
[5863,"Female","chr9",138683996,138683997,"AC","-","Het","PTV","Inheritance_unknown","KCNT1","frameshift deletion","KCNT1:NM_001272003:exon31:c.3625_3626del:p.Q1210Afs*24,KCNT1:NM_020822:exon31:c.3697_3698del:p.Q1234Afs*24","potassium sodium-activated channel subfamily T member 1","-1.732734355 (2.8363%)","0.005348738(57.7503%)","9q34.3","-","-","-","-","-","-"]
[5772,"Male","chr5",149678054,149678054,"C","T","Het","Dmis","Inheritance_unknown","ARSI","nonsynonymous SNV","ARSI:NM_001012301:exon2:c.433G>A:p.V145M","arylsulfatase family member I","-0.379955502 (27.3211%)","1.05E-09(91.0453%)","5q32","-","0.896:D","-","-","-","-"]
[5772,"Male","chr12",109923836,109923836,"G","A","Het","Dmis","Inheritance_unknown","UBE3B","nonsynonymous SNV","UBE3B:NM_001270449:exon5:c.302G>A:p.R101H,UBE3B:NM_001270450:exon5:c.302G>A:p.R101H,UBE3B:NM_001270451:exon5:c.302G>A:p.R101H,UBE3B:NM_130466:exon5:c.302G>A:p.R101H,UBE3B:NM_183415:exon5:c.302G>A:p.R101H","ubiquitin protein ligase E3B","-2.422919179 (1.16925%)","0.009387706(55.1605%)","12q24.11","-","0.798:D",{"v":3.2e-05,"d":"3.20E-05"},{"v":0,"d":"0.00E+00"},{"v":9.69e-05,"d":"9.69E-05"},0.0006]
[5772,"Male","chr9",135772987,135772987,"A","G","Het","Dmis","Inheritance_unknown","TSC1","nonsynonymous SNV","TSC1:NM_001162427:exon20:c.2483T>C:p.M828T,TSC1:NM_000368:exon21:c.2636T>C:p.M879T,TSC1:NM_001162426:exon21:c.2633T>C:p.M878T","tuberous sclerosis 1","-0.568972928 (19.4605%)","0.999978334(2.8148%)","9q34.13","rs754457018","0.782:D","-","-",{"v":3.75e-05,"d":"3.75E-05"},0.0007]
[5775,"Female","chr11",65983598,65983598,"G","T","Het","Dmis","Inheritance_unknown","PACS1","nonsynonymous SNV","PACS1:NM_018026:exon5:c.669G>T:p.Q223H","phosphofurin acidic cluster sorting protein 1","-1.475636869 (4.10975%)","0.999906352(3.6653%)","11q13.2","-","0.875:D","-","-","-","-"]
[5775,"Female","chr11",70348952,70348952,"C","T","Het","Dmis","Inheritance_unknown","SHANK2","nonsynonymous SNV","SHANK2:NM_133266:exon3:c.382G>A:p.V128M","SH3 and multiple ankyrin repeat domains 2","-","0.99992017(3.5610%)","11q13.3","-","0.729:D","-","-","-","-"]
[5568,"Female","chr8",61763106,61763106,"G","A","Het","Dmis","Inheritance_unknown","CHD7","nonsynonymous SNV","CHD7:NM_017780:exon26:c.5459G>A:p.R1820Q","chromodomain helicase DNA binding protein 7","-2.248811659 (1.42973%)","1(0.1920%)","8q12.2","rs372644599","0.916:D",{"v":2.86e-05,"d":"2.86E-05"},0,"-","-"]
[5568,"Female","chr22",41574637,41574637,"C","T","Het","Dmis","Inheritance_unknown","EP300","nonsynonymous SNV","EP300:NM_001429:exon31:c.6922C>T:p.R2308C","E1A binding protein p300","-4.105042369 (0.237323%)","1(0.2085%)","22q13.2","rs145312648","0.841:D",{"v":9.34e-05,"d":"9.34E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[5571,"Female","chr15",72638879,72638879,"A","G","Het","Dmis","Inheritance_unknown","HEXA","nonsynonymous SNV","HEXA:NM_000520:exon11:c.1319T>C:p.L440P,HEXA:NM_001318825:exon11:c.1352T>C:p.L451P","hexosaminidase subunit alpha","-0.266236653 (33.2079%)","5.05E-07(83.6818%)","15q23","rs752223090","0.888:D",{"v":1.22E-5,"d":"1.22E-05"},1E-4,"-","-"]
[6015,"Male","chr1",220195704,220195704,"G","A","Het","Dmis","Inheritance_unknown","EPRS","nonsynonymous SNV","EPRS:NM_004446:exon9:c.1100C>T:p.T367I","glutamyl-prolyl-tRNA synthetase","-1.756786213 (2.7379%)","3.85E-07(84.0713%)","1q41","-","0.865:D","-","-","-","-"]
[6015,"Male","chr6",86246562,86246562,"A","G","Het","Dmis","Inheritance_unknown","SNX14","nonsynonymous SNV","SNX14:NM_020468:exon14:c.1397T>C:p.M466T,SNX14:NM_001350536:exon15:c.1424T>C:p.M475T,SNX14:NM_001350537:exon15:c.1421T>C:p.M474T,SNX14:NM_001350542:exon15:c.1268T>C:p.M423T,SNX14:NM_001350543:exon15:c.1265T>C:p.M422T,SNX14:NM_001350548:exon15:c.401T>C:p.M134T,SNX14:NM_001297614:exon16:c.1529T>C:p.M510T,SNX14:NM_001350534:exon16:c.1526T>C:p.M509T,SNX14:NM_001350541:exon16:c.1529T>C:p.M510T,SNX14:NM_001350545:exon16:c.1112T>C:p.M371T,SNX14:NM_001350546:exon16:c.1112T>C:p.M371T,SNX14:NM_001350547:exon16:c.506T>C:p.M169T,SNX14:NM_001350551:exon16:c.401T>C:p.M134T,SNX14:NM_001350553:exon16:c.374T>C:p.M125T,SNX14:NM_001304479:exon17:c.1400T>C:p.M467T,SNX14:NM_001350533:exon17:c.1553T>C:p.M518T,SNX14:NM_001350535:exon17:c.1553T>C:p.M518T,SNX14:NM_001350538:exon17:c.1412T>C:p.M471T,SNX14:NM_001350539:exon17:c.1397T>C:p.M466T,SNX14:NM_001350540:exon17:c.1556T>C:p.M519T,SNX14:NM_001350544:exon17:c.1256T>C:p.M419T,SNX14:NM_001350549:exon17:c.401T>C:p.M134T,SNX14:NM_001350550:exon17:c.401T>C:p.M134T,SNX14:NM_001350552:exon17:c.401T>C:p.M134T,SNX14:NM_153816:exon17:c.1556T>C:p.M519T,SNX14:NM_001350532:exon18:c.1619T>C:p.M540T","sorting nexin 14","-0.66893469 (16.3232%)","6.80E-10(91.3525%)","6q14.3","rs761611312","0.722:D",{"v":4.47e-05,"d":"4.47E-05"},0,"-","-"]
[6015,"Male","chr7",99703073,99703074,"TG","-","Het","PTV","Inheritance_unknown","AP4M1","frameshift deletion","AP4M1:NM_004722:exon11:c.840_841del:p.V281Dfs*7","adaptor related protein complex 4 mu 1 subunit","-0.721574107 (14.9166%)","2.36E-11(93.7229%)","7q22.1","rs776788025","-",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
[6009,"Male","chr20",8719978,8719978,"G","A","Het","Dmis","Inheritance_unknown","PLCB1","nonsynonymous SNV","PLCB1:NM_015192:exon21:c.2279G>A:p.R760H,PLCB1:NM_182734:exon21:c.2279G>A:p.R760H","phospholipase C beta 1","-1.158205872 (6.93448%)","0.979044816(11.8903%)","20p12.3","rs377440334","0.906:D",{"v":3.25e-05,"d":"3.25E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
[6946,"Female","chr7",92354968,92354968,"T","C","Het","Dmis","Inheritance_unknown","CDK6","nonsynonymous SNV","CDK6:NM_001145306:exon4:c.509A>G:p.Y170C,CDK6:NM_001259:exon4:c.509A>G:p.Y170C","cyclin-dependent kinase 6","-0.302159211 (31.2167%)","0.923677276(16.4115%)","7q21.2","-","0.914:D","-","-","-","-"]
[6946,"Female","chr19",36594792,36594792,"T","-","Het","PTV","Inheritance_unknown","WDR62","frameshift deletion","WDR62:NM_001083961:exon30:c.4062delT:p.G1355Afs*59,WDR62:NM_173636:exon30:c.4047delT:p.G1350Afs*59","WD repeat domain 62","-0.075700179 (45.1899%)","3.70E-13(95.6049%)","19q13.12","-","-","-","-","-","-"]
[6946,"Female","chr17",76565481,76565481,"G","C","Het","Dmis","Inheritance_unknown","DNAH17","nonsynonymous SNV","DNAH17:NM_173628:exon8:c.1173C>G:p.C391W","dynein axonemal heavy chain 17","-","-","17q25.3","rs577733173","0.722:D",{"v":4.1e-06,"d":"4.10E-06"},0,"-","-"]
[7069,"Female","chr2",32362021,32362021,"T","C","Het","Dmis","Inheritance_unknown","SPAST","nonsynonymous SNV","SPAST:NM_199436:exon10:c.1301T>C:p.L434P,SPAST:NM_014946:exon11:c.1397T>C:p.L466P","spastin","-0.2563941 (33.7868%)","0.997074713(7.4458%)","2p22.3","-","1.000:D","-","-","-","-"]
[7556,"Male","chr17",60033129,60033129,"C","T","Het","Dmis","Inheritance_unknown","MED13","nonsynonymous SNV","MED13:NM_005121:exon25:c.5694G>A:p.M1898I","mediator complex subunit 13","-2.759416599 (0.85668%)","1(0.3512%)","17q23.2","-","0.820:D",{"v":4.08e-06,"d":"4.08E-06"},0,"-","-"]
[7556,"Male","chr15",51294813,51294816,"CTGA","-","Het","PTV","Inheritance_unknown","AP4E1","frameshift deletion","AP4E1:NM_001252127:exon21:c.3143_3146del:p.D1049Ifs*8,AP4E1:NM_007347:exon21:c.3368_3371del:p.D1124Ifs*8","adaptor related protein complex 4 epsilon 1 subunit","0.152687122 (61.0095%)","0.979862099(11.7092%)","15q21.2","-","-",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[7936,"Female","chr14",36986498,36986498,"G","T","Het","PTV","Inheritance_unknown","NKX2-1","stopgain","NKX2-1:NM_003317:exon2:c.1101C>A:p.Y367X,NKX2-1:NM_001079668:exon3:c.1191C>A:p.Y397X","NK2 homeobox 1","-0.018496723 (49.0912%)","0.081926486(44.2579%)","14q13.3","-","0.398:T","-","-","-","-"]
[6580,"Female","chr7",82544730,82544730,"T","A","Het","Dmis","Inheritance_unknown","PCLO","nonsynonymous SNV","PCLO:NM_014510:exon7:c.12572A>T:p.H4191L,PCLO:NM_033026:exon7:c.12572A>T:p.H4191L","piccolo presynaptic cytomatrix protein","-2.152098952 (1.61496%)","1(0.2853%)","7q21.11","-","0.778:D","-","-","-","-"]
["8543_TKD180402508-AK3181","Male","chr5",170632565,170632565,"T","C","Het","Dmis","Inheritance_unknown","RANBP17","nonsynonymous SNV","RANBP17:NM_022897:exon20:c.2180T>C:p.I727T","RAN binding protein 17","0.062242183 (54.758%)","8.61E-36(99.7970%)","5q35.1","-","0.955:D","-","-","-","-"]
["8543_TKD180402508-AK3181","Male","chr20",49510467,49510467,"C","A","Het","Dmis","Inheritance_unknown","ADNP","nonsynonymous SNV","ADNP:NM_001282532:exon4:c.784G>T:p.V262F,ADNP:NM_181442:exon4:c.784G>T:p.V262F,ADNP:NM_001347511:exon5:c.784G>T:p.V262F,ADNP:NM_015339:exon5:c.784G>T:p.V262F,ADNP:NM_001282531:exon6:c.784G>T:p.V262F","activity-dependent neuroprotector homeobox","-1.542847722 (3.71614%)","0.9989041(5.9753%)","20q13.13","-","0.818:D","-","-","-","-"]
["8609_TKD180402508-AK3202","Male","chr22",50664339,50664339,"G","A","Het","Dmis","Inheritance_unknown","TUBGCP6","nonsynonymous SNV","TUBGCP6:NM_020461:exon10:c.1867C>T:p.R623W","tubulin gamma complex associated protein 6","0.353636398 (71.8338%)","5.09E-19(98.3978%)","22q13.33","rs141834192","0.819:D",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
[8701,"Male","chr7",82579556,82579556,"C","T","Het","Dmis","Inheritance_unknown","PCLO","nonsynonymous SNV","PCLO:NM_014510:exon6:c.10348G>A:p.E3450K,PCLO:NM_033026:exon6:c.10348G>A:p.E3450K","piccolo presynaptic cytomatrix protein","-2.152098952 (1.61496%)","1(0.2853%)","7q21.11","-","0.747:D","-","-","-","-"]
[8701,"Male","chr7",151878476,151878476,"C","G","Het","Dmis","Inheritance_unknown","KMT2C","nonsynonymous SNV","KMT2C:NM_170606:exon36:c.6469G>C:p.D2157H","lysine methyltransferase 2C","-0.714419772 (15.1192%)","1(0.0878%)","7q36.1","rs759071543","0.844:D",{"v":8.14E-6,"d":"8.14E-06"},1E-4,"-","-"]
[8701,"Male","chr11",128856561,128856561,"T","A","Het","Dmis","Inheritance_unknown","ARHGAP32","nonsynonymous SNV","ARHGAP32:NM_014715:exon4:c.212A>T:p.H71L,ARHGAP32:NM_001142685:exon13:c.1259A>T:p.H420L","Rho GTPase activating protein 32","-1.588685966 (3.44987%)","0.98708852(10.5350%)","11q24.3","-","0.796:D","-","-","-","-"]
[7129,"Male","chr9",88576946,88576946,"C","T","Het","Dmis","Inheritance_unknown","NAA35","nonsynonymous SNV","NAA35:NM_001321881:exon6:c.367C>T:p.H123Y,NAA35:NM_001321882:exon6:c.367C>T:p.H123Y,NAA35:NM_024635:exon6:c.367C>T:p.H123Y","N(alpha)-acetyltransferase 35, NatC auxiliary subunit","-0.198443256 (37.063%)","0.999995237(2.1728%)","9q21.33","rs775977172","0.878:D",{"v":4.18e-06,"d":"4.18E-06"},0,"-","-"]
[9255,"Female","chr1",155316175,155316175,"C","G","Het","Dmis","Inheritance_unknown","ASH1L","nonsynonymous SNV;potential splicing","ASH1L:NM_018489:exon21:c.7889G>C:p.R2630T","-","-","1(0.1591%)","1q22","-","0.508:T","-","-","-","-"]
[9255,"Female","chr3",183853333,183853333,"C","T","Het","Dmis","Inheritance_unknown","EIF2B5","nonsynonymous SNV","EIF2B5:NM_003907:exon1:c.160C>T:p.R54C","eukaryotic translation initiation factor 2B subunit epsilon","-0.811079202 (12.6534%)","0.996711861(7.6379%)","3q27.1","-","0.928:D",0,0,"-","-"]
[9287,"Female","chr11",31815039,31815039,"T","C","Het","Dmis","Inheritance_unknown","PAX6","nonsynonymous SNV","PAX6:NM_001310160:exon8:c.571A>G:p.S191G,PAX6:NM_001310159:exon9:c.979A>G:p.S327G,PAX6:NM_001310161:exon9:c.571A>G:p.S191G,PAX6:NM_001258465:exon10:c.979A>G:p.S327G,PAX6:NM_000280:exon11:c.979A>G:p.S327G,PAX6:NM_001127612:exon11:c.979A>G:p.S327G,PAX6:NM_001258464:exon11:c.979A>G:p.S327G,PAX6:NM_001258462:exon12:c.1021A>G:p.S341G,PAX6:NM_001258463:exon12:c.1021A>G:p.S341G,PAX6:NM_001310158:exon12:c.1021A>G:p.S341G,PAX6:NM_001604:exon12:c.1021A>G:p.S341G","paired box 6","-0.744689179 (14.3031%)","0.998807897(6.0686%)","11p13","-","0.775:D","-","-","-","-"]
[9386,"Male","chr8",65509474,65509474,"C","G","Het","Dmis","Inheritance_unknown","CYP7B1","nonsynonymous SNV","CYP7B1:NM_004820:exon6:c.1246G>C:p.D416H","cytochrome P450 family 7 subfamily B member 1","-1.011184923 (8.89095%)","2.14E-06(81.1413%)","8q12.3","-","0.927:D",{"v":4.09e-06,"d":"4.09E-06"},{"v":5.81e-05,"d":"5.81E-05"},"-","-"]
[9451,"Male","chr8",27320519,27320519,"G","C","Het","Dmis","Inheritance_unknown","CHRNA2","nonsynonymous SNV","CHRNA2:NM_000742:exon6:c.1441C>G:p.R481G,CHRNA2:NM_001282455:exon6:c.1396C>G:p.R466G,CHRNA2:NM_001347705:exon6:c.964C>G:p.R322G,CHRNA2:NM_001347706:exon6:c.964C>G:p.R322G,CHRNA2:NM_001347708:exon6:c.847C>G:p.R283G,CHRNA2:NM_001347707:exon7:c.847C>G:p.R283G","cholinergic receptor nicotinic alpha 2 subunit","-1.014313559 (8.83885%)","0.001766479(62.3429%)","8p21.2","-","0.916:D","-","-","-","-"]
[9451,"Male","chr7",100282433,100282433,"G","A","Het","Dmis","Inheritance_unknown","GIGYF1","nonsynonymous SNV","GIGYF1:NM_022574:exon12:c.1375C>T:p.R459C","GRB10 interacting GYF protein 1","-2.623333318 (0.960871%)","0.978704812(11.9451%)","7q22.1","rs749634346","0.869:D",{"v":4.22e-06,"d":"4.22E-06"},{"v":5.86e-05,"d":"5.86E-05"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
[6163,"Female","chr15",63982846,63982846,"C","A","Het","Dmis","Inheritance_unknown","HERC1","nonsynonymous SNV;potential splicing","HERC1:NM_003922:exon32:c.5831G>T:p.G1944V","-","-","1(0.2359%)","15q22.31","rs761222484","0.843:D",{"v":8.45e-06,"d":"8.45E-06"},1E-4,"-","-"]
[6163,"Female","chr14",21869145,21869145,"G","T","Het","Dmis","Inheritance_unknown","CHD8","nonsynonymous SNV","CHD8:NM_001170629:exon21:c.4259C>A:p.S1420Y,CHD8:NM_020920:exon22:c.3422C>A:p.S1141Y","chromodomain helicase DNA binding protein 8","-2.361431018 (1.25029%)","1(0.2469%)","14q11.2","-","0.925:D","-","-","-","-"]
[6163,"Female","chrX",41047299,41047299,"T","C","Het","Dmis","Inheritance_unknown","USP9X","nonsynonymous SNV","USP9X:NM_001039590:exon25:c.3739T>C:p.W1247R,USP9X:NM_001039591:exon25:c.3739T>C:p.W1247R","ubiquitin specific peptidase 9, X-linked","-3.759904212 (0.358879%)","1(0.2963%)","Xp11.4","rs760463657","0.977:D",{"v":1.69e-05,"d":"1.69E-05"},0,"-","-"]
[9496,"Male","chr8",100108615,100108615,"C","T","Het","Dmis","Inheritance_unknown","VPS13B","nonsynonymous SNV","VPS13B:NM_015243:exon4:c.367C>T:p.R123W,VPS13B:NM_017890:exon4:c.367C>T:p.R123W,VPS13B:NM_152564:exon4:c.367C>T:p.R123W,VPS13B:NM_181661:exon4:c.367C>T:p.R123W","vacuolar protein sorting 13 homolog B (yeast)","-2.877970131 (0.769854%)","9.81E-27(99.4239%)","8q22.2","rs551933357","0.724:D",{"v":6.5e-05,"d":"6.50E-05"},{"v":0,"d":"0.00E+00"},{"v":6.46e-05,"d":"6.46E-05"},0]
[9508,"Female","chr10",28899693,28899693,"C","A","Het","Dmis","Inheritance_unknown","WAC","nonsynonymous SNV","WAC:NM_100486:exon8:c.922C>A:p.P308T,WAC:NM_016628:exon9:c.1231C>A:p.P411T,WAC:NM_100264:exon9:c.1096C>A:p.P366T","WW domain containing adaptor with coiled-coil","-0.483668917 (22.4589%)","0.999891943(3.7641%)","10p12.1","-","0.788:D","-","-","-","-"]
[9508,"Female","chr12",52200075,52200075,"T","C","Het","Dmis","Inheritance_unknown","SCN8A","nonsynonymous SNV","SCN8A:NM_001177984:exon26:c.4682T>C:p.L1561P,SCN8A:NM_001330260:exon27:c.4805T>C:p.L1602P,SCN8A:NM_014191:exon27:c.4805T>C:p.L1602P","sodium voltage-gated channel alpha subunit 8","-3.087082536 (0.64251%)","0.99999829(1.8656%)","12q13.13","-","1.000:D","-","-","-","-"]
[9517,"Male","chr1",175355252,175355252,"G","A","Het","Dmis","Inheritance_unknown","TNR","nonsynonymous SNV","TNR:NM_001328635:exon8:c.694C>T:p.R232W,TNR:NM_003285:exon8:c.1693C>T:p.R565W","tenascin R","-0.089910353 (44.148%)","0.987762732(10.4088%)","1q25.1","rs775684150","0.874:D",{"v":8.15e-06,"d":"8.15E-06"},0,"-","-"]
[9517,"Male","chr8",126091008,126091008,"C","T","Het","Dmis","Inheritance_unknown","WASHC5","nonsynonymous SNV","WASHC5:NM_001330609:exon5:c.239G>A:p.R80Q,WASHC5:NM_014846:exon6:c.683G>A:p.R228Q","-","-","-","8q24.13","rs138222483","0.887:D",{"v":8.13e-06,"d":"8.13E-06"},0,"-","-"]
[9520,"Male","chr5",137542250,137542250,"A","G","Het","Dmis","Inheritance_unknown","CDC23","nonsynonymous SNV","CDC23:NM_004661:exon3:c.358T>C:p.Y120H","cell division cycle 23","-0.684548267 (15.9817%)","0.999307693(5.4705%)","5q31.2","-","0.933:D","-","-","-","-"]
[9607,"Male","chr13",100915054,100915054,"T","C","Het","Dmis","Inheritance_unknown","PCCA","nonsynonymous SNV","PCCA:NM_001127692:exon9:c.710T>C:p.F237S,PCCA:NM_000282:exon10:c.788T>C:p.F263S,PCCA:NM_001178004:exon10:c.788T>C:p.F263S","propionyl-CoA carboxylase alpha subunit","-0.84576154 (11.8835%)","2.13E-10(92.3512%)","13q32.3","-","0.973:D","-","-","-","-"]
[9812,"Male","chr17",76511050,76511050,"C","T","Het","Dmis","Inheritance_unknown","DNAH17","nonsynonymous SNV","DNAH17:NM_173628:exon26:c.3919G>A:p.E1307K","dynein axonemal heavy chain 17","-","-","17q25.3","rs934851324","0.816:D",{"v":8.12e-06,"d":"8.12E-06"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
[9815,"Male","chr1",97915670,97915670,"G","A","Het","Dmis","Inheritance_unknown","DPYD","nonsynonymous SNV","DPYD:NM_000110:exon14:c.1850C>T:p.T617M","dihydropyrimidine dehydrogenase","0.56272734 (80.6437%)","4.19E-09(89.7284%)","1p21.3","rs753707032","0.825:D",{"v":1.22E-5,"d":"1.22E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
[9818,"Male","chr20",61987415,61987415,"G","A","Het","Dmis","Inheritance_unknown","CHRNA4","nonsynonymous SNV","CHRNA4:NM_000744:exon4:c.295C>T:p.R99C","cholinergic receptor nicotinic alpha 4 subunit","-1.283796674 (5.63209%)","0.020867888(51.3580%)","20q13.33","rs201160663","0.749:D",{"v":4.1e-06,"d":"4.10E-06"},0,"-","-"]
[9910,"Male","chr22",41572351,41572351,"G","A","Het","Dmis","Inheritance_unknown","EP300","nonsynonymous SNV","EP300:NM_001429:exon30:c.4880G>A:p.R1627Q","E1A binding protein p300","-4.105042369 (0.237323%)","1(0.2085%)","22q13.2","-","0.928:D","-","-","-","-"]
[9990,"Female","chr21",47975985,47975985,"G","C","Het","Dmis","Inheritance_unknown","DIP2A","nonsynonymous SNV","DIP2A:NM_001146116:exon29:c.3467G>C:p.G1156A,DIP2A:NM_015151:exon29:c.3479G>C:p.G1160A","disco interacting protein 2 homolog A","-1.954202731 (2.11855%)","0.726099074(23.8134%)","21q22.3","-","0.943:D","-","-","-","-"]
[10076,"Male","chr14",75475887,75475887,"T","C","Het","Dmis","Inheritance_unknown","EIF2B2","nonsynonymous SNV","EIF2B2:NM_014239:exon8:c.1052T>C:p.L351S","eukaryotic translation initiation factor 2B subunit beta","-0.382760448 (27.1938%)","0.000428256(67.4897%)","14q24.3","rs778740286","0.909:D",{"v":8.12e-06,"d":"8.12E-06"},1E-4,"-","-"]
[10076,"Male","chr9",138671275,138671275,"G","A","Het","Dmis","Inheritance_unknown","KCNT1","nonsynonymous SNV","KCNT1:NM_001272003:exon23:c.2665G>A:p.A889T,KCNT1:NM_020822:exon24:c.2800G>A:p.A934T","potassium sodium-activated channel subfamily T member 1","-1.732734355 (2.8363%)","0.005348738(57.7503%)","9q34.3","rs397515403","0.900:D","-","-","-","-"]
["A13","Male","chr12",42863314,42863314,"C","T","Het","Dmis","Inheritance_unknown","PRICKLE1","nonsynonymous SNV","PRICKLE1:NM_001144881:exon4:c.322G>A:p.A108T,PRICKLE1:NM_001144882:exon4:c.322G>A:p.A108T,PRICKLE1:NM_001144883:exon4:c.322G>A:p.A108T,PRICKLE1:NM_153026:exon4:c.322G>A:p.A108T","prickle planar cell polarity protein 1","-0.738915353 (14.4362%)","0.991966859(9.3937%)","12q12","rs749826585","0.847:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A16","Male","chr4",128807773,128807774,"TG","-","Het","PTV","Inheritance_unknown","PLK4","frameshift deletion","PLK4:NM_001190799:exon4:c.1152_1153del:p.N384Kfs*14,PLK4:NM_001190801:exon5:c.1125_1126del:p.N375Kfs*14,PLK4:NM_014264:exon5:c.1248_1249del:p.N416Kfs*14","polo like kinase 4","-0.419167564 (25.301%)","0.777981749(22.2936%)","4q28.2","-","-","-","-","-","-"]
["A10","Male","chr17",76447708,76447708,"C","T","Het","Dmis","Inheritance_unknown","DNAH17","nonsynonymous SNV","DNAH17:NM_173628:exon66:c.10577G>A:p.R3526H","dynein axonemal heavy chain 17","-","-","17q25.3","rs372114864","0.801:D",{"v":3.05e-05,"d":"3.05E-05"},{"v":0,"d":"0.00E+00"},{"v":9.7E-5,"d":"9.70E-05"},0]
["A73","Female","chr15",52609361,52609361,"C","T","Het","Dmis","Inheritance_unknown","MYO5A","nonsynonymous SNV","MYO5A:NM_001142495:exon38:c.5137G>A:p.A1713T,MYO5A:NM_000259:exon39:c.5218G>A:p.A1740T","myosin VA","-2.122805557 (1.65548%)","0.992129667(9.3388%)","15q21.2","-","0.945:D",{"v":8.13e-06,"d":"8.13E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A109","Male","chr17",15978850,15978850,"T","C","Het","Dmis","Inheritance_unknown","NCOR1","nonsynonymous SNV","NCOR1:NM_001190440:exon26:c.3716A>G:p.D1239G,NCOR1:NM_006311:exon27:c.3668A>G:p.D1223G","nuclear receptor corepressor 1","-3.079715329 (0.648298%)","0.999999999(0.5158%)","17p12","rs759481823","0.914:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A109","Male","chr2",50699599,50699599,"A","T","Het","PTV","Inheritance_unknown","NRXN1","stopgain","NRXN1:NM_001330087:exon11:c.2970T>A:p.Y990X,NRXN1:NM_001330096:exon11:c.2970T>A:p.Y990X,NRXN1:NM_001330083:exon12:c.3015T>A:p.Y1005X,NRXN1:NM_001330084:exon12:c.3015T>A:p.Y1005X,NRXN1:NM_001330088:exon12:c.3000T>A:p.Y1000X,NRXN1:NM_001330095:exon14:c.3030T>A:p.Y1010X,NRXN1:NM_001330077:exon15:c.3057T>A:p.Y1019X,NRXN1:NM_001330082:exon15:c.3057T>A:p.Y1019X,NRXN1:NM_001330085:exon15:c.3054T>A:p.Y1018X,NRXN1:NM_001330094:exon15:c.3069T>A:p.Y1023X,NRXN1:NM_001330078:exon16:c.3081T>A:p.Y1027X,NRXN1:NM_001330086:exon16:c.3081T>A:p.Y1027X,NRXN1:NM_001330093:exon16:c.3078T>A:p.Y1026X,NRXN1:NM_004801:exon16:c.3081T>A:p.Y1027X,NRXN1:NM_001135659:exon17:c.3201T>A:p.Y1067X","neurexin 1","-1.883401977 (2.29799%)","0.999948738(3.2209%)","2p16.3","-","0.455:T","-","-","-","-"]
["A236","Male","chr6",152652121,152652121,"A","C","Het","Dmis","Inheritance_unknown","SYNE1","nonsynonymous SNV","SYNE1:NM_033071:exon77:c.13486T>G:p.F4496V,SYNE1:NM_182961:exon78:c.13699T>G:p.F4567V","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.2","-","0.871:D","-","-","-","-"]
["A236","Male","chr16",87902565,87902565,"T","C","Het","Dmis","Inheritance_unknown","SLC7A5","nonsynonymous SNV","SLC7A5:NM_003486:exon1:c.464A>G:p.Y155C","solute carrier family 7 member 5","-0.591294098 (18.7949%)","0.5084966(29.6790%)","16q24.2","rs769225102","0.958:D",{"v":4.57e-06,"d":"4.57E-06"},0,"-","-"]
["A236","Male","chr6",88228565,88228565,"C","T","Het","Dmis","Inheritance_unknown","RARS2","nonsynonymous SNV","RARS2:NM_001350509:exon13:c.757G>A:p.G253R,RARS2:NM_001318785:exon14:c.757G>A:p.G253R,RARS2:NM_001350505:exon15:c.1282G>A:p.G428R,RARS2:NM_001350506:exon15:c.757G>A:p.G253R,RARS2:NM_001350510:exon15:c.757G>A:p.G253R,RARS2:NM_020320:exon15:c.1282G>A:p.G428R,RARS2:NM_001350507:exon16:c.757G>A:p.G253R,RARS2:NM_001350508:exon16:c.757G>A:p.G253R,RARS2:NM_001350511:exon16:c.757G>A:p.G253R","arginyl-tRNA synthetase 2, mitochondrial","0.042258271 (53.4209%)","3.49E-06(80.1920%)","6q15","rs764875815","0.966:D",{"v":8.12e-06,"d":"8.12E-06"},0,"-","-"]
["A142","Male","chr19",31769558,31769558,"G","A","Het","Dmis","Inheritance_unknown","TSHZ3","nonsynonymous SNV","TSHZ3:NM_020856:exon2:c.1141C>T:p.R381W","teashirt zinc finger homeobox 3","-0.774564325 (13.4927%)","0.425645582(32.0823%)","19q12","-","0.740:D","-","-","-","-"]
["A142","Male","chr11",47605870,47605870,"G","A","Het","Dmis","Inheritance_unknown","NDUFS3","nonsynonymous SNV","NDUFS3:NM_004551:exon7:c.632G>A:p.R211H","NADH:ubiquinone oxidoreductase core subunit S3","-0.398536759 (26.3834%)","0.047137034(47.2922%)","11p11.2","rs1015261716","0.942:D","-","-","-","-"]
["A100","Male","chr21",47931475,47931476,"CT","-","Het","PTV","Inheritance_unknown","DIP2A","frameshift deletion","DIP2A:NM_001146115:exon7:c.921_922del:p.C308Sfs*17,DIP2A:NM_001146116:exon8:c.1038_1039del:p.C347Sfs*17,DIP2A:NM_015151:exon8:c.1050_1051del:p.C351Sfs*17,DIP2A:NM_206889:exon8:c.1050_1051del:p.C351Sfs*17,DIP2A:NM_206890:exon8:c.1050_1051del:p.C351Sfs*17,DIP2A:NM_206891:exon8:c.1050_1051del:p.C351Sfs*17","disco interacting protein 2 homolog A","-1.954202731 (2.11855%)","0.726099074(23.8134%)","21q22.3","-","-","-","-","-","-"]
["A139","Male","chr8",100865782,100865783,"CT","-","Het","PTV","Inheritance_unknown","VPS13B","frameshift deletion","VPS13B:NM_017890:exon56:c.10240_10241del:p.L3414Hfs*26,VPS13B:NM_152564:exon56:c.10165_10166del:p.L3389Hfs*26","vacuolar protein sorting 13 homolog B (yeast)","-2.877970131 (0.769854%)","9.81E-27(99.4239%)","8q22.2","-","-","-","-","-","-"]
["A620","Male","chr11",93517687,93517687,"G","T","Het","Dmis","Inheritance_unknown","MED17","nonsynonymous SNV","MED17:NM_004268:exon1:c.8G>T:p.G3V","mediator complex subunit 17","-1.094761048 (7.79116%)","3.89E-06(80.0055%)","11q21","-","0.734:D","-","-","-","-"]
["A620","Male","chr22",51159488,51159488,"C","-","Het","PTV","Inheritance_unknown","SHANK3","frameshift deletion","SHANK3:NM_033517:exon21:c.3185delC:p.L1063fs*0","SH3 and multiple ankyrin repeat domains 3","-","0.99983962(4.1317%)","22q13.33","-","-","-","-","-","-"]
["A589","Male","chr18",31325279,31325279,"C","T","Het","PTV","Inheritance_unknown","ASXL3","stopgain","ASXL3:NM_030632:exon12:c.5467C>T:p.R1823X","additional sex combs like 3, transcriptional regulator","-1.329796683 (5.20954%)","0.999977048(2.8697%)","18q12.1","-","0.767:D","-","-","-","-"]
["A873","Male","chr10",61868690,61868690,"A","C","Het","Dmis","Inheritance_unknown","ANK3","nonsynonymous SNV","ANK3:NM_001149:exon5:c.473T>G:p.L158W,ANK3:NM_001320874:exon27:c.3071T>G:p.L1024W,ANK3:NM_020987:exon27:c.3071T>G:p.L1024W,ANK3:NM_001204403:exon28:c.3053T>G:p.L1018W,ANK3:NM_001204404:exon28:c.3074T>G:p.L1025W","ankyrin 3, node of Ranvier (ankyrin G)","-5.215169063 (0.0752489%)","1(0.1481%)","10q21.2","-","0.769:D","-","-","-","-"]
["A1579","Male","chr21",38845018,38845018,"G","T","Het","Dmis","Inheritance_unknown","DYRK1A","nonsynonymous SNV","DYRK1A:NM_130436:exon2:c.43G>T:p.V15F,DYRK1A:NM_130438:exon2:c.43G>T:p.V15F,DYRK1A:NM_001347721:exon3:c.43G>T:p.V15F,DYRK1A:NM_001347722:exon3:c.43G>T:p.V15F,DYRK1A:NM_001396:exon3:c.43G>T:p.V15F,DYRK1A:NM_101395:exon4:c.43G>T:p.V15F","dual specificity tyrosine phosphorylation regulated kinase 1A","-0.840447561 (11.9819%)","0.999584542(4.9108%)","21q22.13","rs780200883","0.805:D",{"v":8.21e-06,"d":"8.21E-06"},{"v":1E-4,"d":"1.00E-04"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
[9782,"Male","chr11",2189111,2189111,"G","C","Het","Dmis","Inheritance_unknown","TH","nonsynonymous SNV","TH:NM_000360:exon5:c.629C>G:p.A210G,TH:NM_199292:exon6:c.722C>G:p.A241G,TH:NM_199293:exon6:c.710C>G:p.A237G","tyrosine hydroxylase","0.203301238 (64.0658%)","0.004098744(58.9355%)","11p15.5","-","0.902:D","-","-","-","-"]
[9779,"Male","chr19",31770307,31770307,"C","A","Het","Dmis","Inheritance_unknown","TSHZ3","nonsynonymous SNV","TSHZ3:NM_020856:exon2:c.392G>T:p.W131L","teashirt zinc finger homeobox 3","-0.774564325 (13.4927%)","0.425645582(32.0823%)","19q12","-","0.776:D","-","-","-","-"]
[9779,"Male","chr16",2125845,2125845,"A","G","Het","Dmis","Inheritance_unknown","TSC2","nonsynonymous SNV","TSC2:NM_001318831:exon20:c.1991A>G:p.Q664R,TSC2:NM_001318827:exon22:c.2480A>G:p.Q827R,TSC2:NM_001318829:exon22:c.2444A>G:p.Q815R,TSC2:NM_000548:exon23:c.2591A>G:p.Q864R,TSC2:NM_001077183:exon23:c.2591A>G:p.Q864R,TSC2:NM_001114382:exon23:c.2591A>G:p.Q864R,TSC2:NM_001318832:exon23:c.2624A>G:p.Q875R","tuberous sclerosis 2","-2.944580835 (0.729335%)","0.999999983(0.8176%)","16p13.3","-","0.978:D","-","-","-","-"]
["A1124","Female","chr6",152665325,152665325,"A","T","Het","Dmis","Inheritance_unknown","SYNE1","nonsynonymous SNV","SYNE1:NM_033071:exon73:c.11903T>A:p.V3968D,SYNE1:NM_182961:exon74:c.12116T>A:p.V4039D","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.2","-","0.751:D","-","-","-","-"]
["A1133","Male","chr5",14504516,14504516,"T","C","Het","Dmis","Inheritance_unknown","TRIO","nonsynonymous SNV","TRIO:NM_007118:exon55:c.8426T>C:p.V2809A","trio Rho guanine nucleotide exchange factor","-4.532800748 (0.150498%)","1(0.1536%)","5p15.2","-","0.756:D","-","-","-","-"]
["A1133","Male","chr3",184075880,184075880,"G","C","Het","Dmis","Inheritance_unknown","CLCN2","nonsynonymous SNV","CLCN2:NM_001171088:exon4:c.353C>G:p.S118C,CLCN2:NM_001171087:exon5:c.485C>G:p.S162C,CLCN2:NM_001171089:exon5:c.485C>G:p.S162C,CLCN2:NM_004366:exon5:c.485C>G:p.S162C","chloride voltage-gated channel 2","-0.100206955 (43.3723%)","2.27E-07(84.9547%)","3q27.1","-","0.978:D","-","-","-","-"]
["A1795","Male","chr2",205410732,205410732,"A","G","Het","Dmis","Inheritance_unknown","PARD3B","nonsynonymous SNV","PARD3B:NM_001302769:exon1:c.10A>G:p.T4A,PARD3B:NM_057177:exon1:c.10A>G:p.T4A,PARD3B:NM_152526:exon1:c.10A>G:p.T4A,PARD3B:NM_205863:exon1:c.10A>G:p.T4A","par-3 family cell polarity regulator beta","0.394809114 (73.7902%)","8.65E-08(86.2387%)","2q33.3","-","0.744:D","-","-","-","-"]
["A1795","Male","chr15",51233937,51233937,"T","C","Het","Dmis","Inheritance_unknown","AP4E1","nonsynonymous SNV","AP4E1:NM_001252127:exon10:c.916T>C:p.C306R,AP4E1:NM_007347:exon10:c.1141T>C:p.C381R","adaptor related protein complex 4 epsilon 1 subunit","0.152687122 (61.0095%)","0.979862099(11.7092%)","15q21.2","-","0.977:D","-","-","-","-"]
["A1867","Female","chrX",6069197,6069197,"G","A","Het","Dmis","Inheritance_unknown","NLGN4X","nonsynonymous SNV","NLGN4X:NM_001282146:exon2:c.311C>T:p.T104I,NLGN4X:NM_020742:exon2:c.311C>T:p.T104I,NLGN4X:NM_181332:exon2:c.311C>T:p.T104I,NLGN4X:NM_001282145:exon3:c.311C>T:p.T104I","neuroligin 4, X-linked","-1.616285515 (3.2878%)","0.932298559(15.9177%)","Xp22.31","-","0.934:D","-","-","-","-"]
["A1858","Male","chr19",6016168,6016168,"C","T","Het","Dmis","Inheritance_unknown","RFX2","nonsynonymous SNV","RFX2:NM_134433:exon6:c.637G>A:p.A213T,RFX2:NM_000635:exon7:c.712G>A:p.A238T","regulatory factor X2","-0.394948195 (26.6265%)","0.989509333(9.9973%)","19p13.3","rs758198748","0.883:D",{"v":8.13e-06,"d":"8.13E-06"},0,"-","-"]
["A1873","Male","chr11",63273921,63273921,"C","A","Het","PTV","Inheritance_unknown","LGALS12","stopgain","LGALS12:NM_001142535:exon1:c.57C>A:p.C19X,LGALS12:NM_001142536:exon1:c.57C>A:p.C19X,LGALS12:NM_033101:exon1:c.57C>A:p.C19X","lectin, galactoside-binding, soluble, 12","0.486343588 (77.5816%)","2.69E-09(90.2058%)","11q12.3","-","0.238:T","-","-","-","-"]
["A1819","Female","chr8",100160140,100160140,"C","G","Het","Dmis","Inheritance_unknown","VPS13B","nonsynonymous SNV","VPS13B:NM_015243:exon14:c.1915C>G:p.R639G,VPS13B:NM_017890:exon14:c.1915C>G:p.R639G,VPS13B:NM_152564:exon14:c.1915C>G:p.R639G","vacuolar protein sorting 13 homolog B (yeast)","-2.877970131 (0.769854%)","9.81E-27(99.4239%)","8q22.2","-","0.891:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
["A1819","Female","chr11",71150001,71150001,"T","A","Het","Dmis","Inheritance_unknown","DHCR7","nonsynonymous SNV","DHCR7:NM_001163817:exon7:c.755A>T:p.N252I,DHCR7:NM_001360:exon7:c.755A>T:p.N252I","7-dehydrocholesterol reductase","1.480335588 (96.0755%)","5.04E-08(86.9026%)","11q13.4","-","0.803:D","-","-","-","-"]
["A1834","Male","chr9",139994274,139994274,"G","A","Het","Dmis","Inheritance_unknown","MAN1B1","nonsynonymous SNV","MAN1B1:NM_016219:exon6:c.857G>A:p.G286D","mannosidase alpha class 1B member 1","-0.155810972 (39.5751%)","2.63E-06(80.6804%)","9q34.3","rs747220074","0.905:D",{"v":8.12e-06,"d":"8.12E-06"},0,"-","-"]
["A1834","Male","chr10",114918456,114918456,"T","C","Het","Dmis","Inheritance_unknown","TCF7L2","nonsynonymous SNV","TCF7L2:NM_001349870:exon9:c.920T>C:p.L307P,TCF7L2:NM_001349871:exon9:c.800T>C:p.L267P,TCF7L2:NM_001146284:exon12:c.1268T>C:p.L423P,TCF7L2:NM_001198525:exon12:c.1295T>C:p.L432P,TCF7L2:NM_001198527:exon12:c.1268T>C:p.L423P,TCF7L2:NM_001198528:exon12:c.1280T>C:p.L427P,TCF7L2:NM_001198529:exon12:c.1280T>C:p.L427P,TCF7L2:NM_030756:exon12:c.1280T>C:p.L427P","transcription factor 7 like 2","-0.890122996 (11.0269%)","0.989605029(9.9753%)","10q25.3","-","0.892:D","-","-","-","-"]
["A1831","Female","chr13",100953844,100953844,"G","T","Het","Dmis","Inheritance_unknown","PCCA","nonsynonymous SNV","PCCA:NM_001127692:exon12:c.1118G>T:p.R373L,PCCA:NM_000282:exon13:c.1196G>T:p.R399L,PCCA:NM_001178004:exon13:c.1196G>T:p.R399L","propionyl-CoA carboxylase alpha subunit","-0.84576154 (11.8835%)","2.13E-10(92.3512%)","13q32.3","-","0.998:D","-","-","-","-"]
["A1822","Female","chr3",3192607,3192607,"G","A","Het","Dmis","Inheritance_unknown","CRBN","nonsynonymous SNV","CRBN:NM_001173482:exon11:c.1268C>T:p.P423L,CRBN:NM_016302:exon11:c.1271C>T:p.P424L","cereblon","-0.664241423 (16.4448%)","0.038494438(48.4664%)","3p26.2","-","0.866:D","-","-","-","-"]
["A1822","Female","chr4",114251431,114251431,"G","A","Het","Dmis","Inheritance_unknown","ANK2","nonsynonymous SNV","ANK2:NM_001148:exon27:c.2930G>A:p.R977Q,ANK2:NM_020977:exon27:c.2930G>A:p.R977Q,ANK2:NM_001127493:exon29:c.2903G>A:p.R968Q","ankyrin 2, neuronal","-2.975174634 (0.706182%)","1(0.1646%)","4q26","rs747390978","0.923:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A1013","Female","chr10",410320,410320,"C","T","Het","Dmis","Inheritance_unknown","DIP2C","nonsynonymous SNV","DIP2C:NM_014974:exon20:c.2471G>A:p.R824Q","disco interacting protein 2 homolog C","-4.462072989 (0.156286%)","0.999999838(1.1578%)","10p15.3","rs998801866","0.797:D",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
["A1007","Male","chr14",53540482,53540482,"C","T","Het","Dmis","Inheritance_unknown","DDHD1","nonsynonymous SNV","DDHD1:NM_001160148:exon5:c.1373G>A:p.R458Q,DDHD1:NM_030637:exon5:c.1373G>A:p.R458Q,DDHD1:NM_001160147:exon6:c.1394G>A:p.R465Q","DDHD domain containing 1","-0.743446591 (14.3262%)","0.968458214(13.1303%)","14q22.1","-","0.905:D","-","-","-","-"]
["A2023","Male","chr17",76554284,76554287,"TCTT","-","Het","PTV","Inheritance_unknown","DNAH17","frameshift deletion","DNAH17:NM_173628:exon14:c.2081_2084del:p.K694Rfs*32","dynein axonemal heavy chain 17","-","-","17q25.3","rs766575917","-",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
["A2062","Female","chr1",202710826,202710826,"A","G","Het","Dmis","Inheritance_unknown","KDM5B","nonsynonymous SNV","KDM5B:NM_001347591:exon18:c.2479T>C:p.F827L,KDM5B:NM_006618:exon19:c.2614T>C:p.F872L,KDM5B:NM_001314042:exon20:c.2722T>C:p.F908L","lysine demethylase 5B","-2.302644968 (1.34869%)","5.09E-05(73.7723%)","1q32.1","-","0.856:D","-","-","-","-"]
["A2062","Female","chr16",2137921,2137921,"G","C","Het","Dmis","Inheritance_unknown","TSC2","nonsynonymous SNV","TSC2:NM_001318831:exon35:c.4315G>C:p.V1439L,TSC2:NM_001318827:exon36:c.4738G>C:p.V1580L,TSC2:NM_001318829:exon36:c.4702G>C:p.V1568L,TSC2:NM_001077183:exon37:c.4846G>C:p.V1616L,TSC2:NM_001318832:exon37:c.4879G>C:p.V1627L,TSC2:NM_001114382:exon38:c.4978G>C:p.V1660L,TSC2:NM_000548:exon39:c.5047G>C:p.V1683L","tuberous sclerosis 2","-2.944580835 (0.729335%)","0.999999983(0.8176%)","16p13.3","-","0.785:D","-","-","-","-"]
["A2083","Male","chr9",131388794,131388794,"G","A","Het","Dmis","Inheritance_unknown","SPTAN1","nonsynonymous SNV","SPTAN1:NM_001195532:exon47:c.6329G>A:p.R2110H,SPTAN1:NM_003127:exon48:c.6389G>A:p.R2130H,SPTAN1:NM_001130438:exon49:c.6404G>A:p.R2135H","spectrin alpha, non-erythrocytic 1","-4.04482939 (0.272054%)","1(0.1756%)","9q34.11","rs373259652","0.794:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2026","Female","chr7",147869558,147869558,"T","C","Het","Dmis","Inheritance_unknown","CNTNAP2","nonsynonymous SNV","CNTNAP2:NM_014141:exon18:c.2998T>C:p.F1000L","contactin associated protein-like 2","-0.135838044 (40.9065%)","3.83E-05(74.5569%)","7q35","-","0.810:D","-","-","-","-"]
["A2095","Female","chr14",103410279,103410279,"G","A","Het","Dmis","Inheritance_unknown","CDC42BPB","nonsynonymous SNV","CDC42BPB:NM_006035:exon30:c.4357C>T:p.R1453W","CDC42 binding protein kinase beta","-2.618253358 (0.972447%)","1(0.4609%)","14q32.32","rs773059863","0.767:D",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
["A2095","Female","chr16",56309911,56309911,"C","T","Het","Dmis","Inheritance_unknown","GNAO1","nonsynonymous SNV","GNAO1:NM_020988:exon3:c.230C>T:p.T77I,GNAO1:NM_138736:exon3:c.230C>T:p.T77I","G protein subunit alpha o1","-0.935109664 (10.0891%)","0.984288177(11.0178%)","16q12.2","-","0.953:D","-","-","-","-"]
["A2053","Female","chr6",80629144,80629144,"A","C","Het","Dmis","Inheritance_unknown","ELOVL4","nonsynonymous SNV","ELOVL4:NM_022726:exon5:c.662T>G:p.L221W","ELOVL fatty acid elongase 4","-0.352612931 (28.6062%)","0.741051155(23.3909%)","6q14.1","-","0.854:D",{"v":8.13e-06,"d":"8.13E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2059","Male","chr17",1631087,1631090,"TGTT","-","Het","PTV","Inheritance_unknown","WDR81","frameshift deletion","WDR81:NM_001163809:exon1:c.2834_2837del:p.F946Sfs*16","WD repeat domain 81","-","1.26E-05(77.4266%)","17p13.3","-","-","-","-","-","-"]
["A2059","Male","chr17",29508797,29508797,"A","G","Het","Dmis","Inheritance_unknown","NF1","nonsynonymous SNV","NF1:NM_000267:exon7:c.724A>G:p.M242V,NF1:NM_001042492:exon7:c.724A>G:p.M242V,NF1:NM_001128147:exon7:c.724A>G:p.M242V","neurofibromin 1","-4.245138737 (0.202593%)","0.999999846(1.1523%)","17q11.2","-","0.848:D","-","-","-","-"]
["A2086","Male","chr16",30750744,30750744,"-","C","Het","PTV","Inheritance_unknown","SRCAP","frameshift insertion","SRCAP:NM_006662:exon34:c.9384dupC:p.L3131Tfs*3","Snf2-related CREBBP activator protein","-4.207340364 (0.225747%)","0.999999997(0.6475%)","16p11.2","-","-","-","-","-","-"]
["A2086","Male","chr13",25458156,25458156,"-","AAAT","Het","PTV","Inheritance_unknown","CENPJ","frameshift insertion","CENPJ:NM_018451:exon16:c.3768_3769insATTT:p.P1257Ifs*2","centromere protein J","0.700358238 (84.8287%)","3.03E-21(98.8697%)","13q12.12","-","-","-","-",{"v":9.69e-05,"d":"9.69E-05"},0]
["A2050","Male","chr1",175334359,175334360,"TG","-","Het","PTV","Inheritance_unknown","TNR","frameshift deletion","TNR:NM_001328635:exon12:c.1374_1375del:p.I459Hfs*3,TNR:NM_003285:exon12:c.2373_2374del:p.I792Hfs*3","tenascin R","-0.089910353 (44.148%)","0.987762732(10.4088%)","1q25.1","-","-","-","-","-","-"]
["A2050","Male","chr17",1629316,1629316,"G","C","Het","Dmis","Inheritance_unknown","WDR81","nonsynonymous SNV","WDR81:NM_001163809:exon1:c.1063G>C:p.G355R","WD repeat domain 81","-","1.26E-05(77.4266%)","17p13.3","-","0.887:D","-","-","-","-"]
["A1972","Female","chr7",70228059,70228059,"C","T","Het","PTV","Inheritance_unknown","AUTS2","stopgain","AUTS2:NM_001127231:exon7:c.946C>T:p.R316X,AUTS2:NM_015570:exon7:c.946C>T:p.R316X","autism susceptibility candidate 2","-1.963042912 (2.0896%)","0.996187482(7.8573%)","7q11.22","-","0.038:T","-","-","-","-"]
["A2197","Male","chr6",43098348,43098348,"C","T","Het","Dmis","Inheritance_unknown","PTK7","nonsynonymous SNV","PTK7:NM_001270398:exon5:c.785C>T:p.P262L,PTK7:NM_002821:exon5:c.761C>T:p.P254L,PTK7:NM_152880:exon5:c.761C>T:p.P254L,PTK7:NM_152881:exon5:c.761C>T:p.P254L,PTK7:NM_152882:exon5:c.761C>T:p.P254L","protein tyrosine kinase 7 (inactive)","-1.399907107 (4.57861%)","0.975879481(12.2414%)","6p21.1","rs779250545","0.856:D",{"v":1.63E-5,"d":"1.63E-05"},0,"-","-"]
["A2197","Male","chr13",111929986,111929986,"C","T","Het","Dmis","Inheritance_unknown","ARHGEF7","nonsynonymous SNV","ARHGEF7:NM_001320854:exon8:c.767C>T:p.S256F,ARHGEF7:NM_001320851:exon11:c.1001C>T:p.S334F,ARHGEF7:NM_001330598:exon11:c.1001C>T:p.S334F,ARHGEF7:NM_001113512:exon12:c.1385C>T:p.S462F,ARHGEF7:NM_001113513:exon12:c.1001C>T:p.S334F,ARHGEF7:NM_001320853:exon12:c.1226C>T:p.S409F,ARHGEF7:NM_003899:exon12:c.1001C>T:p.S334F,ARHGEF7:NM_001320852:exon13:c.1472C>T:p.S491F,ARHGEF7:NM_001330597:exon13:c.1001C>T:p.S334F,ARHGEF7:NM_145735:exon13:c.1472C>T:p.S491F,ARHGEF7:NM_001113511:exon14:c.1535C>T:p.S512F","Rho guanine nucleotide exchange factor 7","-1.258956721 (5.85205%)","0.953985931(14.3539%)","13q34","-","0.915:D","-","-","-","-"]
["A2197","Male","chr1",197111652,197111653,"CT","-","Het","PTV","Inheritance_unknown","ASPM","frameshift deletion","ASPM:NM_001206846:exon3:c.1729_1730del:p.S577Rfs*32,ASPM:NM_018136:exon3:c.1729_1730del:p.S577Rfs*32","abnormal spindle microtubule assembly","0.345649059 (71.4459%)","6.16E-26(99.3690%)","1q31.3","rs199422146","-",{"v":8.13e-06,"d":"8.13E-06"},0,"-","-"]
["A2194","Female","chr7",103251145,103251145,"G","A","Het","Dmis","Inheritance_unknown","RELN","nonsynonymous SNV","RELN:NM_005045:exon22:c.3005C>T:p.T1002I,RELN:NM_173054:exon22:c.3005C>T:p.T1002I","reelin","-1.431203386 (4.36444%)","1(0.0823%)","7q22.1","-","0.809:D","-","-","-","-"]
["A145","Male","chr15",85196024,85196024,"A","G","Het","Dmis","Inheritance_unknown","WDR73","nonsynonymous SNV","WDR73:NM_032856:exon3:c.119T>C:p.V40A","WD repeat domain 73","0.083031743 (56.2399%)","7.90E-06(78.6063%)","15q25.2","-","0.776:D",{"v":7.36e-06,"d":"7.36E-06"},0,"-","-"]
["A2254","Male","chr11",686931,686931,"G","A","Het","Dmis","Inheritance_unknown","DEAF1","nonsynonymous SNV","DEAF1:NM_021008:exon5:c.731C>T:p.A244V","DEAF1, transcription factor","-0.591294098 (18.7833%)","0.000193157(69.8546%)","11p15.5","-","0.846:D","-","-","-","-"]
["A2356","Male","chr17",76459069,76459069,"G","A","Het","Dmis","Inheritance_unknown","DNAH17","nonsynonymous SNV","DNAH17:NM_173628:exon57:c.9031C>T:p.R3011C","dynein axonemal heavy chain 17","-","-","17q25.3","rs745789398","0.904:D",{"v":8.12e-06,"d":"8.12E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2356","Male","chr8",61773638,61773638,"T","C","Het","Dmis","Inheritance_unknown","CHD7","nonsynonymous SNV","CHD7:NM_017780:exon35:c.7784T>C:p.L2595P","chromodomain helicase DNA binding protein 7","-2.248811659 (1.42973%)","1(0.1920%)","8q12.2","-","0.979:D","-","-","-","-"]
["A2245","Male","chr22",50660969,50660969,"C","A","Het","PTV","Inheritance_unknown","TUBGCP6","stopgain","TUBGCP6:NM_020461:exon14:c.2323G>T:p.E775X","tubulin gamma complex associated protein 6","0.353636398 (71.8338%)","5.09E-19(98.3978%)","22q13.33","-","0.764:D","-","-","-","-"]
["A2245","Male","chr3",48457494,48457494,"A","T","Het","Dmis","Inheritance_unknown","PLXNB1","nonsynonymous SNV","PLXNB1:NM_001130082:exon18:c.3563T>A:p.L1188Q,PLXNB1:NM_002673:exon18:c.3563T>A:p.L1188Q","plexin B1","-0.517678516 (21.0755%)","0.850195108(19.8464%)","3p21.31","-","0.756:D","-","-","-","-"]
["A2341","Male","chr11",101347237,101347237,"G","C","Het","Dmis","Inheritance_unknown","TRPC6","nonsynonymous SNV","TRPC6:NM_004621:exon6:c.1539C>G:p.I513M","transient receptor potential cation channel subfamily C member 6","-1.353000782 (5.01273%)","0.004564105(58.5460%)","11q22.1","rs773987404","0.857:D",{"v":4.07E-6,"d":"4.07E-06"},{"v":5.81e-05,"d":"5.81E-05"},"-","-"]
["A2473","Female","chr3",20168949,20168949,"C","T","Het","Dmis","Inheritance_unknown","KAT2B","nonsynonymous SNV","KAT2B:NM_003884:exon11:c.1657C>T:p.R553C","lysine acetyltransferase 2B","-0.514599937 (21.1797%)","0.998926901(5.9424%)","3p24.3","rs771660443","0.887:D",{"v":2.03e-05,"d":"2.03E-05"},{"v":1E-4,"d":"1.00E-04"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A2551","Male","chr7",107600255,107600255,"G","A","Het","Dmis","Inheritance_unknown","LAMB1","nonsynonymous SNV","LAMB1:NM_002291:exon19:c.2339C>T:p.S780L","laminin subunit beta 1","-1.235752647 (6.17041%)","1.79E-06(81.4540%)","7q31.1","rs762419153","0.919:D",{"v":1.23e-05,"d":"1.23E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2531","Male","chr17",8381684,8381684,"C","T","Het","Dmis","Inheritance_unknown","MYH10","nonsynonymous SNV","MYH10:NM_005964:exon39:c.5585G>A:p.R1862H,MYH10:NM_001256095:exon40:c.5612G>A:p.R1871H,MYH10:NM_001256012:exon41:c.5678G>A:p.R1893H","myosin, heavy chain 10, non-muscle","-3.725598395 (0.370456%)","0.99999755(1.9534%)","17p13.1","-","0.858:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
["A2531","Male","chr1",42050407,42050407,"A","G","Het","Dmis","Inheritance_unknown","HIVEP3","nonsynonymous SNV","HIVEP3:NM_001127714:exon3:c.62T>C:p.L21P,HIVEP3:NM_024503:exon4:c.62T>C:p.L21P","human immunodeficiency virus type I enhancer binding protein 3","0.715684558 (85.2628%)","0.030810602(49.4486%)","1p34.2","-","0.787:D","-","-","-","-"]
["A2779","Male","chr6",79707287,79707287,"T","G","Het","Dmis","Inheritance_unknown","PHIP","nonsynonymous SNV","PHIP:NM_017934:exon19:c.2045A>C:p.H682P","pleckstrin homology domain interacting protein","-2.790384398 (0.827738%)","0.999999948(0.9492%)","6q14.1","-","0.788:D","-","-","-","-"]
["A2806","Female","chr7",92252389,92252389,"C","T","Het","Dmis","Inheritance_unknown","CDK6","nonsynonymous SNV","CDK6:NM_001145306:exon6:c.659G>A:p.R220H,CDK6:NM_001259:exon6:c.659G>A:p.R220H","cyclin-dependent kinase 6","-0.302159211 (31.2167%)","0.923677276(16.4115%)","7q21.2","rs369229292","0.719:D",{"v":2.63e-05,"d":"2.63E-05"},{"v":1E-4,"d":"1.00E-04"},{"v":3.25e-05,"d":"3.25E-05"},0]
["A983","Male","chr12",123741471,123741471,"C","T","Het","PTV","Inheritance_unknown","C12orf65","stopgain","C12orf65:NM_001143905:exon3:c.394C>T:p.R132X,C12orf65:NM_001194995:exon3:c.394C>T:p.R132X,C12orf65:NM_152269:exon3:c.394C>T:p.R132X","chromosome 12 open reading frame 65","-0.017714714 (49.1433%)","0.17232859(39.6049%)","12q24.31","rs397514539","0.478:T",{"v":1.65e-05,"d":"1.65E-05"},1E-4,"-","-"]
["NB-22","Female","chr2",60689229,60689229,"T","C","Het","Dmis","Inheritance_unknown","BCL11A","nonsynonymous SNV","BCL11A:NM_018014:exon4:c.818A>G:p.H273R,BCL11A:NM_022893:exon4:c.818A>G:p.H273R","B-cell CLL/lymphoma 11A","-1.669838259 (3.06784%)","0.828999685(20.6255%)","2p16.1","-","0.733:D","-","-","-","-"]
["NB-22","Female","chr9",433920,433920,"G","C","Het","Dmis","Inheritance_unknown","DOCK8","nonsynonymous SNV","DOCK8:NM_001190458:exon36:c.4531G>C:p.V1511L,DOCK8:NM_001193536:exon37:c.4627G>C:p.V1543L,DOCK8:NM_203447:exon38:c.4831G>C:p.V1611L","dedicator of cytokinesis 8","-0.828277355 (12.254%)","0.000135434(70.9410%)","9p24.3","rs746467722","0.771:D",{"v":8.12e-06,"d":"8.12E-06"},1E-4,"-","-"]
["NB-28","Male","chr11",2192970,2192970,"C","G","Het","Dmis","Inheritance_unknown","TH","nonsynonymous SNV","TH:NM_000360:exon1:c.47G>C:p.R16T,TH:NM_199292:exon1:c.47G>C:p.R16T,TH:NM_199293:exon1:c.47G>C:p.R16T","tyrosine hydroxylase","0.203301238 (64.0658%)","0.004098744(58.9355%)","11p15.5","rs765591331","0.840:D",{"v":4.1e-06,"d":"4.10E-06"},{"v":5.81e-05,"d":"5.81E-05"},"-","-"]
["NB-24","Female","chr17",76437168,76437168,"G","-","Het","PTV","Inheritance_unknown","DNAH17","frameshift deletion","DNAH17:NM_173628:exon72:c.11642delC:p.P3881Rfs*5","dynein axonemal heavy chain 17","-","-","17q25.3","-","-","-","-","-","-"]
["NB-24","Female","chr12",112891121,112891121,"G","A","Het","Dmis","Inheritance_unknown","PTPN11","nonsynonymous SNV","PTPN11:NM_001330437:exon4:c.455G>A:p.R152H,PTPN11:NM_002834:exon4:c.455G>A:p.R152H,PTPN11:NM_080601:exon4:c.455G>A:p.R152H","protein tyrosine phosphatase, non-receptor type 11","-0.626595584 (17.5446%)","0.999877231(3.9012%)","12q24.13","rs397507521","0.872:D",{"v":1.22E-5,"d":"1.22E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["NB-4","Male","chr6",152472810,152472810,"G","A","Het","Dmis","Inheritance_unknown","SYNE1","nonsynonymous SNV","SYNE1:NM_001347702:exon6:c.793C>T:p.R265C,SYNE1:NM_001347701:exon8:c.934C>T:p.R312C,SYNE1:NM_033071:exon134:c.24115C>T:p.R8039C,SYNE1:NM_182961:exon135:c.24328C>T:p.R8110C","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.1","rs749473816","0.866:D",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
["NB-21","Female","chr4",85696290,85696290,"A","G","Het","Dmis","Inheritance_unknown","WDFY3","nonsynonymous SNV;potential splicing","WDFY3:NM_014991:exon28:c.4520T>C:p.V1507A","-","-","1(0.0055%)","4q21.23","-","0.906:D","-","-","-","-"]
["NB-12","Male","chr17",1637438,1637438,"G","A","Het","Dmis","Inheritance_unknown","WDR81","nonsynonymous SNV","WDR81:NM_001163673:exon7:c.1498G>A:p.V500M,WDR81:NM_001163809:exon7:c.5107G>A:p.V1703M,WDR81:NM_001163811:exon7:c.1426G>A:p.V476M,WDR81:NM_152348:exon8:c.1954G>A:p.V652M","WD repeat domain 81","-","1.26E-05(77.4266%)","17p13.3","rs770827829","0.784:D",{"v":4.27e-06,"d":"4.27E-06"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["NB-18","Female","chr16",4847496,4847496,"C","T","Het","Dmis","Inheritance_unknown","ROGDI","nonsynonymous SNV","ROGDI:NM_024589:exon11:c.829G>A:p.V277M","rogdi homolog","0.578194712 (81.1704%)","3.13E-12(94.7874%)","16p13.3","rs759234056","0.863:D",{"v":4.11e-06,"d":"4.11E-06"},0,"-","-"]
["NB-18","Female","chr6",152470650,152470650,"G","A","Het","Dmis","Inheritance_unknown","SYNE1","nonsynonymous SNV","SYNE1:NM_001347702:exon7:c.1069C>T:p.R357C,SYNE1:NM_001347701:exon9:c.1210C>T:p.R404C,SYNE1:NM_033071:exon135:c.24391C>T:p.R8131C,SYNE1:NM_182961:exon136:c.24604C>T:p.R8202C","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.1","-","0.916:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["NB-18","Female","chr18",44625681,44625681,"G","C","Het","Dmis","Inheritance_unknown","KATNAL2","nonsynonymous SNV","KATNAL2:NM_031303:exon13:c.1063G>C:p.A355P","katanin p60 subunit A like 2","0.426826951 (75.1447%)","0.000125862(71.1440%)","18q21.1","-","0.920:D","-","-","-","-"]
["NB-11","Female","chr8",6478982,6478982,"G","A","Het","Dmis","Inheritance_unknown","MCPH1","nonsynonymous SNV","MCPH1:NM_001322042:exon13:c.2222G>A:p.R741Q,MCPH1:NM_024596:exon13:c.2222G>A:p.R741Q","microcephalin 1","2.567871085 (99.1665%)","5.17E-18(98.0905%)","8p23.1","rs779231385","0.769:D",{"v":3.66e-05,"d":"3.66E-05"},1E-4,"-","-"]
["NB-11","Female","chr6",43100218,43100218,"G","T","Het","Dmis","Inheritance_unknown","PTK7","nonsynonymous SNV","PTK7:NM_001270398:exon7:c.1045G>T:p.V349L,PTK7:NM_002821:exon7:c.1021G>T:p.V341L,PTK7:NM_152880:exon7:c.1021G>T:p.V341L,PTK7:NM_152881:exon7:c.1021G>T:p.V341L,PTK7:NM_152882:exon7:c.1021G>T:p.V341L","protein tyrosine kinase 7 (inactive)","-1.399907107 (4.57861%)","0.975879481(12.2414%)","6p21.1","-","0.739:D","-","-","-","-"]
["NB-11","Female","chr2",233671240,233671240,"C","T","Het","Dmis","Inheritance_unknown","GIGYF2","nonsynonymous SNV","GIGYF2:NM_001103148:exon14:c.1661C>T:p.A554V,GIGYF2:NM_001103146:exon15:c.1679C>T:p.A560V,GIGYF2:NM_001103147:exon17:c.1742C>T:p.A581V,GIGYF2:NM_015575:exon17:c.1679C>T:p.A560V","GRB10 interacting GYF protein 2","-0.561478054 (19.6226%)","1(0.2908%)","2q37.1","rs761136505","0.981:D",{"v":2.03e-05,"d":"2.03E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["NB-11","Female","chr1",98157307,98157307,"A","G","Het","Dmis","Inheritance_unknown","DPYD","nonsynonymous SNV","DPYD:NM_000110:exon7:c.728T>C:p.F243S","dihydropyrimidine dehydrogenase","0.56272734 (80.6437%)","4.19E-09(89.7284%)","1p21.3","-","0.729:D","-","-","-","-"]
["NB-29","Female","chr19",41351345,41351345,"G","A","Het","Dmis","Inheritance_unknown","CYP2A6","nonsynonymous SNV","CYP2A6:NM_000762:exon7:c.1015C>T:p.R339W","cytochrome P450 family 2 subfamily A member 6","1.910154405 (97.9683%)","2.18E-06(81.1084%)","19q13.2","-","0.838:D",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
["NB-29","Female","chr3",3076319,3076319,"C","T","Het","Dmis","Inheritance_unknown","CNTN4","nonsynonymous SNV","CNTN4:NM_001206956:exon8:c.800C>T:p.P267L,CNTN4:NM_175613:exon8:c.803C>T:p.P268L,CNTN4:NM_001206955:exon16:c.1787C>T:p.P596L,CNTN4:NM_001350095:exon17:c.1787C>T:p.P596L,CNTN4:NM_175607:exon17:c.1787C>T:p.P596L","contactin 4","-0.517119498 (21.0986%)","0.996606388(7.6872%)","3p26.2","-","0.794:D","-","-","-","-"]
["NB-20","Male","chr1",41976205,41976205,"G","A","Het","PTV","Inheritance_unknown","HIVEP3","stopgain","HIVEP3:NM_001127714:exon8:c.7135C>T:p.Q2379X,HIVEP3:NM_024503:exon9:c.7138C>T:p.Q2380X","human immunodeficiency virus type I enhancer binding protein 3","0.715684558 (85.2628%)","0.030810602(49.4486%)","1p34.2","rs765051056","0.456:T",{"v":5.1e-06,"d":"5.10E-06"},0,"-","-"]
["NB-30","Female","chr1",197073382,197073382,"G","A","Het","Dmis","Inheritance_unknown","ASPM","nonsynonymous SNV","ASPM:NM_018136:exon18:c.4999C>T:p.R1667C","abnormal spindle microtubule assembly","0.345649059 (71.4459%)","6.16E-26(99.3690%)","1q31.3","rs755281471","0.945:D",{"v":4.09e-06,"d":"4.09E-06"},{"v":0,"d":"0.00E+00"},{"v":9.72e-05,"d":"9.72E-05"},0]
["NB-7","Female","chr14",51087421,51087421,"C","T","Het","Dmis","Inheritance_unknown","ATL1","nonsynonymous SNV","ATL1:NM_015915:exon9:c.967C>T:p.R323W,ATL1:NM_181598:exon9:c.967C>T:p.R323W,ATL1:NM_001127713:exon10:c.967C>T:p.R323W","atlastin GTPase 1","-0.87793545 (11.2005%)","0.992118036(9.3498%)","14q22.1","-","0.912:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["NB-7","Female","chr6",24505176,24505176,"C","T","Het","Dmis","Inheritance_unknown","ALDH5A1","nonsynonymous SNV","ALDH5A1:NM_001080:exon4:c.689C>T:p.A230V,ALDH5A1:NM_170740:exon4:c.689C>T:p.A230V","aldehyde dehydrogenase 5 family member A1","0.362161292 (72.2505%)","0.002904262(60.4335%)","6p22.3","-","0.964:D","-","-","-","-"]
["NB-13","Female","chr4",25146449,25146449,"-","A","Het","PTV","Inheritance_unknown","SEPSECS","frameshift insertion","SEPSECS:NM_016955:exon8:c.972dupT:p.T325Yfs*10","Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase","-0.396350797 (26.5571%)","2.65E-06(80.6694%)","4p15.2","-","-","-","-","-","-"]
["NB-17","Male","chr5",6616857,6616857,"A","T","Het","PTV","Inheritance_unknown","NSUN2","stopgain","NSUN2:NM_001193455:exon8:c.899T>A:p.L300X,NSUN2:NM_017755:exon9:c.1004T>A:p.L335X","NOP2/Sun RNA methyltransferase family member 2","-1.246929069 (6.00255%)","0.961845836(13.7394%)","5p15.31","rs545640450","0.705:D",{"v":8.3e-06,"d":"8.30E-06"},1E-4,"-","-"]
["NB-17","Male","chr6",157528609,157528609,"T","C","Het","Dmis","Inheritance_unknown","ARID1B","nonsynonymous SNV","ARID1B:NM_017519:exon19:c.6295T>C:p.Y2099H,ARID1B:NM_001346813:exon20:c.6454T>C:p.Y2152H,ARID1B:NM_020732:exon20:c.6334T>C:p.Y2112H","AT-rich interaction domain 1B","-2.205109578 (1.51655%)","0.99994993(3.2099%)","6q25.3","-","0.754:D","-","-","-","-"]
["NB-17","Male","chr2",241710435,241710435,"G","A","Het","Dmis","Inheritance_unknown","KIF1A","nonsynonymous SNV","KIF1A:NM_004321:exon14:c.1267C>T:p.R423C,KIF1A:NM_001244008:exon15:c.1294C>T:p.R432C,KIF1A:NM_001320705:exon15:c.1294C>T:p.R432C,KIF1A:NM_001330289:exon15:c.1294C>T:p.R432C,KIF1A:NM_001330290:exon15:c.1369C>T:p.R457C","kinesin family member 1A","-2.95475663 (0.723547%)","0.999989437(2.5240%)","2q37.3","rs763524814","0.858:D",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
["NB-32","Female","chr18",44595640,44595640,"T","C","Het","Dmis","Inheritance_unknown","KATNAL2","nonsynonymous SNV","KATNAL2:NM_031303:exon9:c.659T>C:p.L220P","katanin p60 subunit A like 2","0.426826951 (75.1447%)","0.000125862(71.1440%)","18q21.1","-","0.975:D","-","-",{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["NB-27","Female","chr2",127944894,127944894,"G","-","Het","PTV","Inheritance_unknown","CYP27C1","stopgain","CYP27C1:NM_001001665:exon8:c.1072delC:p.L358fs*0","cytochrome P450 family 27 subfamily C member 1","-0.886995467 (11.0558%)","0.000184567(70.0137%)","2q14.3","-","-","-","-","-","-"]
["NB-27","Female","chr3",71050190,71050190,"G","A","Het","Dmis","Inheritance_unknown","FOXP1","nonsynonymous SNV","FOXP1:NM_001244813:exon7:c.695C>T:p.A232V,FOXP1:NM_001349344:exon7:c.692C>T:p.A231V,FOXP1:NM_001244812:exon8:c.767C>T:p.A256V,FOXP1:NM_001244815:exon8:c.1001C>T:p.A334V,FOXP1:NM_001349337:exon8:c.998C>T:p.A333V,FOXP1:NM_001349342:exon8:c.695C>T:p.A232V,FOXP1:NM_001349343:exon8:c.692C>T:p.A231V,FOXP1:NM_001244814:exon9:c.995C>T:p.A332V,FOXP1:NM_001244816:exon12:c.995C>T:p.A332V,FOXP1:NM_001349340:exon12:c.995C>T:p.A332V,FOXP1:NM_001244808:exon13:c.995C>T:p.A332V,FOXP1:NM_001244810:exon13:c.995C>T:p.A332V,FOXP1:NM_001349338:exon13:c.995C>T:p.A332V,FOXP1:NM_001349339:exon13:c.995C>T:p.A332V,FOXP1:NM_001349341:exon13:c.992C>T:p.A331V,FOXP1:NM_032682:exon13:c.995C>T:p.A332V","forkhead box P1","-1.245360918 (6.03149%)","0.999750735(4.4225%)","3p13","rs971116457","0.845:D","-","-","-","-"]
["NB-27","Female","chr1",197059076,197059076,"A","G","Het","Dmis","Inheritance_unknown","ASPM","nonsynonymous SNV","ASPM:NM_001206846:exon24:c.5213T>C:p.L1738S,ASPM:NM_018136:exon25:c.9968T>C:p.L3323S","abnormal spindle microtubule assembly","0.345649059 (71.4459%)","6.16E-26(99.3690%)","1q31.3","-","0.890:D","-","-","-","-"]
["NB-16","Female","chr6",52344539,52344539,"C","T","Het","PTV","Inheritance_unknown","EFHC1","stopgain","EFHC1:NM_018100:exon9:c.1594C>T:p.Q532X,EFHC1:NM_001172420:exon10:c.1537C>T:p.Q513X","EF-hand domain (C-terminal) containing 1","0.83608509 (87.9775%)","5.06E-12(94.6063%)","6p12.2","rs745458555","0.476:T",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["NB-15","Female","chr2",50780102,50780102,"G","A","Het","Dmis","Inheritance_unknown","NRXN1","nonsynonymous SNV","NRXN1:NM_001330087:exon5:c.1298C>T:p.P433L,NRXN1:NM_001330096:exon5:c.1298C>T:p.P433L,NRXN1:NM_001330083:exon6:c.1343C>T:p.P448L,NRXN1:NM_001330084:exon6:c.1343C>T:p.P448L,NRXN1:NM_001330088:exon6:c.1328C>T:p.P443L,NRXN1:NM_001330077:exon8:c.1358C>T:p.P453L,NRXN1:NM_001330082:exon8:c.1358C>T:p.P453L,NRXN1:NM_001330094:exon8:c.1370C>T:p.P457L,NRXN1:NM_001330095:exon8:c.1358C>T:p.P453L,NRXN1:NM_001330078:exon9:c.1382C>T:p.P461L,NRXN1:NM_001330085:exon9:c.1382C>T:p.P461L,NRXN1:NM_001330086:exon9:c.1382C>T:p.P461L,NRXN1:NM_001330093:exon9:c.1379C>T:p.P460L,NRXN1:NM_004801:exon9:c.1382C>T:p.P461L,NRXN1:NM_001135659:exon10:c.1502C>T:p.P501L","neurexin 1","-1.883401977 (2.29799%)","0.999948738(3.2209%)","2p16.3","rs530674644","0.837:D",{"v":1.22E-5,"d":"1.22E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["NB-6","Female","chr16",3779455,3779455,"T","C","Het","Dmis","Inheritance_unknown","CREBBP","nonsynonymous SNV","CREBBP:NM_001079846:exon30:c.5479A>G:p.M1827V,CREBBP:NM_004380:exon31:c.5593A>G:p.M1865V","CREB binding protein","-4.226101807 (0.21417%)","1(0.1701%)","16p13.3","-","0.846:D","-","-","-","-"]
["NB-9","Male","chr7",82544386,82544386,"T","C","Het","Dmis","Inheritance_unknown","PCLO","nonsynonymous SNV","PCLO:NM_014510:exon7:c.12916A>G:p.K4306E,PCLO:NM_033026:exon7:c.12916A>G:p.K4306E","piccolo presynaptic cytomatrix protein","-2.152098952 (1.61496%)","1(0.2853%)","7q21.11","-","0.748:D","-","-","-","-"]
["NB-9","Male","chr8",65527713,65527731,"CAGAAGATAATACATTGCC","-","Het","PTV","Inheritance_unknown","CYP7B1","frameshift deletion","CYP7B1:NM_001324112:exon4:c.909_927del:p.W303Cfs*40,CYP7B1:NM_004820:exon4:c.909_927del:p.W303Cfs*40","cytochrome P450 family 7 subfamily B member 1","-1.011184923 (8.89095%)","2.14E-06(81.1413%)","8q12.3","-","-","-","-","-","-"]
["NB-14","Male","chr3",12533671,12533671,"C","G","Het","Dmis","Inheritance_unknown","TSEN2","nonsynonymous SNV","TSEN2:NM_001145392:exon3:c.226C>G:p.P76A,TSEN2:NM_001145393:exon3:c.226C>G:p.P76A,TSEN2:NM_001145394:exon3:c.226C>G:p.P76A,TSEN2:NM_001321277:exon3:c.226C>G:p.P76A,TSEN2:NM_001321278:exon3:c.226C>G:p.P76A,TSEN2:NM_001321279:exon3:c.226C>G:p.P76A,TSEN2:NM_025265:exon3:c.226C>G:p.P76A","tRNA splicing endonuclease subunit 2","0.228137296 (65.2697%)","0.000104861(71.6543%)","3p25.2","-","0.892:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
["NB-10","Female","chr19",44015619,44015619,"G","A","Het","Dmis","Inheritance_unknown","ETHE1","nonsynonymous SNV","ETHE1:NM_001320869:exon2:c.181C>T:p.R61C,ETHE1:NM_001320868:exon3:c.106C>T:p.R36C,ETHE1:NM_001320867:exon4:c.442C>T:p.R148C,ETHE1:NM_014297:exon4:c.475C>T:p.R159C","ethylmalonic encephalopathy 1","-0.211874143 (36.3221%)","0.016175186(52.7078%)","19q13.31","rs540383420","0.949:D",{"v":2.03e-05,"d":"2.03E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["NB-10","Female","chr22",42610167,42610167,"C","T","Het","Dmis","Inheritance_unknown","TCF20","nonsynonymous SNV","TCF20:NM_181492:exon1:c.1145G>A:p.C382Y,TCF20:NM_005650:exon2:c.1145G>A:p.C382Y","transcription factor 20 (AR1)","-3.824233709 (0.341514%)","0.999977934(2.8368%)","22q13.2","rs762930856","0.759:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
["NB-19","Female","chr2",202589136,202589136,"G","A","Het","Dmis","Inheritance_unknown","ALS2","nonsynonymous SNV","ALS2:NM_020919:exon21:c.3394C>T:p.R1132C","ALS2, alsin Rho guanine nucleotide exchange factor","-2.155938739 (1.60338%)","0.000769641(65.5693%)","2q33.1","rs149670991","0.883:D",{"v":8.13e-06,"d":"8.13E-06"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["NB-3","Female","chr3",48456585,48456585,"T","-","Het","PTV","Inheritance_unknown","PLXNB1","frameshift deletion;potential splicing","PLXNB1:NM_001130082:exon20:c.3966delA:p.Q1322Hfs*45,PLXNB1:NM_002673:exon20:c.3966delA:p.Q1322Hfs*45","-","-","0.850195108(19.8464%)","3p21.31","-","-","-","-","-","-"]
["A3043","Female","chr16",78466632,78466632,"C","T","Het","Dmis","Inheritance_unknown","WWOX","nonsynonymous SNV","WWOX:NM_001291997:exon7:c.700C>T:p.P234S,WWOX:NM_016373:exon8:c.1039C>T:p.P347S","WW domain containing oxidoreductase","2.097512386 (98.4256%)","1.94E-08(88.1372%)","16q23.1","-","0.896:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A3043","Female","chr8",141449256,141449256,"C","A","Het","Dmis","Inheritance_unknown","TRAPPC9","nonsynonymous SNV","TRAPPC9:NM_001160372:exon3:c.625G>T:p.V209L,TRAPPC9:NM_001321646:exon3:c.625G>T:p.V209L,TRAPPC9:NM_031466:exon3:c.919G>T:p.V307L","trafficking protein particle complex 9","-0.329836902 (29.8217%)","5.76E-06(79.2209%)","8q24.3","-","0.737:D",{"v":8.14E-6,"d":"8.14E-06"},0,"-","-"]
["A148","Female","chr8",132052066,132052066,"G","T","Het","Dmis","Inheritance_unknown","ADCY8","nonsynonymous SNV","ADCY8:NM_001115:exon1:c.514C>A:p.R172S","adenylate cyclase 8 (brain)","-1.761902552 (2.71475%)","0.002985662(60.2853%)","8q24.22","-","0.884:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A148","Female","chr8",132052067,132052067,"C","A","Het","Dmis","Inheritance_unknown","ADCY8","nonsynonymous SNV","ADCY8:NM_001115:exon1:c.513G>T:p.Q171H","adenylate cyclase 8 (brain)","-1.761902552 (2.71475%)","0.002985662(60.2853%)","8q24.22","-","0.873:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["s3737","Male","chr21",47910511,47910511,"A","G","Het","PTV","Inheritance_unknown","DIP2A","splicing","NM_206891:exon3:c.164-2A>G;NM_015151:exon3:c.164-2A>G;NM_001146115:exon3:c.164-2A>G;NM_001146116:exon3:c.164-2A>G;NM_206889:exon3:c.164-2A>G;NM_206890:exon3:c.164-2A>G","disco interacting protein 2 homolog A","-1.954202731 (2.11855%)","0.726099074(23.8134%)","21q22.3","-","0.643:T","-","-","-","-"]
[9553,"Male","chr22",42564614,42564614,"C","T","Het","PTV","Inheritance_unknown","TCF20","splicing","NM_005650:exon5:c.5927+1G>A;NM_005650:exon5:UTR3","transcription factor 20 (AR1)","-3.824233709 (0.341514%)","0.999977934(2.8368%)","22q13.2","-","-","-","-","-","-"]
["A1124","Female","chr11",70336494,70336494,"T","C","Het","PTV","Inheritance_unknown","SHANK2","splicing","NM_133266:exon8:c.676-2A>G;NM_012309:exon20:c.2249-2A>G","SH3 and multiple ankyrin repeat domains 2","-","0.99992017(3.5610%)","11q13.3","-","0.598:T","-","-","-","-"]
["A1013","Female","chr8",100732781,100732781,"G","T","Het","PTV","Inheritance_unknown","VPS13B","splicing","NM_017890:exon38:c.6940+1G>T;NM_152564:exon38:c.6865+1G>T","vacuolar protein sorting 13 homolog B (yeast)","-2.877970131 (0.769854%)","9.81E-27(99.4239%)","8q22.2","rs202046738","0.765:D",{"v":4.08e-06,"d":"4.08E-06"},{"v":5.82e-05,"d":"5.82E-05"},"-","-"]
["A2083","Male","chr6",52355149,52355149,"G","A","Het","PTV","Inheritance_unknown","EFHC1","splicing","NM_018100:exon10:c.1851+1G>A;NM_001172420:exon11:c.1794+1G>A","EF-hand domain (C-terminal) containing 1","0.83608509 (87.9775%)","5.06E-12(94.6063%)","6p12.2","-","0.663:T",{"v":4.08e-06,"d":"4.08E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A883","Female","chrX",53272513,53272513,"C","T","Het","PTV","Inheritance_unknown","IQSEC2","splicing","NM_015075:exon9:c.2274+1G>A;NM_001111125:exon9:c.2889+1G>A","IQ motif and Sec7 domain 2","-1.591622566 (3.42672%)","0.975390479(12.3457%)","Xp11.22","-","0.744:D","-","-","-","-"]
[5419,"Female","chr17",49068017,49068017,"G","A","Het","Dmis","Maternal_inheritance","SPAG9","nonsynonymous SNV","SPAG9:NM_001251971:exon16:c.1940C>T:p.T647I,SPAG9:NM_003971:exon19:c.2369C>T:p.T790I,SPAG9:NM_001130527:exon20:c.2381C>T:p.T794I,SPAG9:NM_001130528:exon20:c.2411C>T:p.T804I","sperm associated antigen 9","-1.200392043 (6.59296%)","0.999998938(1.6680%)","17q21.33","-","0.782:D","-","-","-","-"]
[5419,"Female","chr3",55018683,55018683,"G","A","Het","Dmis","Maternal_inheritance","CACNA2D3","nonsynonymous SNV","CACNA2D3:NM_018398:exon30:c.2605G>A:p.E869K","calcium voltage-gated channel auxiliary subunit alpha2delta 3","-1.223659583 (6.34406%)","0.998032255(6.8642%)","3p14.3","-","0.839:D",{"v":5.42e-06,"d":"5.42E-06"},{"v":7.52e-05,"d":"7.52E-05"},"-","-"]
[5419,"Female","chrX",153295830,153295830,"C","G","Het","Dmis","Maternal_inheritance","MECP2","nonsynonymous SNV","MECP2:NM_001110792:exon3:c.1485G>C:p.E495D,MECP2:NM_004992:exon4:c.1449G>C:p.E483D,MECP2:NM_001316337:exon5:c.1170G>C:p.E390D","methyl-CpG binding protein 2","-0.320453986 (30.2501%)","0.698089048(24.6200%)","Xq28","rs267608336","0.828:D",{"v":5.03e-05,"d":"5.03E-05"},0,"-","-"]
[9788,"Female","chr11",47602494,47602494,"-","TT","Het","PTV","Maternal_inheritance","NDUFS3","frameshift insertion","NDUFS3:NM_004551:exon4:c.339_340insTT:p.L114Ffs*1","NADH:ubiquinone oxidoreductase core subunit S3","-0.398536759 (26.3834%)","0.047137034(47.2922%)","11p11.2","-","-","-","-","-","-"]
["s4546","Female","chr10",76602911,76602911,"G","A","Het","Dmis","Maternal_inheritance","KAT6B","nonsynonymous SNV","KAT6B:NM_001256468:exon3:c.296G>A:p.C99Y,KAT6B:NM_001256469:exon3:c.296G>A:p.C99Y,KAT6B:NM_012330:exon3:c.296G>A:p.C99Y","lysine acetyltransferase 6B","-3.45154577 (0.468859%)","0.999999923(1.0370%)","10q22.2","-","0.878:D","-","-","-","-"]
["s3794","Male","chr7",104748173,104748173,"C","T","Het","Dmis","Maternal_inheritance","KMT2E","nonsynonymous SNV","KMT2E:NM_018682:exon21:c.3269C>T:p.S1090L,KMT2E:NM_182931:exon22:c.3269C>T:p.S1090L","lysine methyltransferase 2E","-3.121618628 (0.613568%)","0.999999995(0.6859%)","7q22.3","-","0.838:D",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
["s4133","Male","chr11",3844194,3844194,"G","T","Het","PTV","Maternal_inheritance","PGAP2","stopgain","PGAP2:NM_001256235:exon4:c.190G>T:p.E64X,PGAP2:NM_001346402:exon4:c.256G>T:p.E86X","post-GPI attachment to proteins 2","0.235014334 (65.6344%)","0.15222416(40.4444%)","11p15.4","-","0.080:T","-","-","-","-"]
["s4133","Male","chr14",21854109,21854109,"A","G","Het","Dmis","Maternal_inheritance","CHD8","nonsynonymous SNV","CHD8:NM_001170629:exon37:c.7409T>C:p.L2470S,CHD8:NM_020920:exon38:c.6572T>C:p.L2191S","chromodomain helicase DNA binding protein 8","-2.361431018 (1.25029%)","1(0.2469%)","14q11.2","rs954740391","0.766:D","-","-","-","-"]
["s4136","Male","chr7",104749476,104749476,"C","A","Het","Dmis","Maternal_inheritance","KMT2E","nonsynonymous SNV","KMT2E:NM_018682:exon22:c.3556C>A:p.P1186T,KMT2E:NM_182931:exon23:c.3556C>A:p.P1186T","lysine methyltransferase 2E","-3.121618628 (0.613568%)","0.999999995(0.6859%)","7q22.3","-","0.720:D",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
["s4136","Male","chr17",76476795,76476795,"C","T","Het","Dmis","Maternal_inheritance","DNAH17","nonsynonymous SNV","DNAH17:NM_173628:exon49:c.7723G>A:p.G2575R","dynein axonemal heavy chain 17","-","-","17q25.3","rs932713541","0.825:D",{"v":4.07E-6,"d":"4.07E-06"},{"v":5.81e-05,"d":"5.81E-05"},"-","-"]
["s4142","Male","chr8",15480670,15480670,"C","T","Het","PTV","Maternal_inheritance","TUSC3","stopgain","TUSC3:NM_006765:exon2:c.220C>T:p.R74X,TUSC3:NM_178234:exon2:c.220C>T:p.R74X","tumor suppressor candidate 3","-1.080388811 (8.02269%)","0.001898764(61.9918%)","8p22","-","0.593:T",{"v":1.22E-5,"d":"1.22E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
[6672,"Male","chr22",41513256,41513256,"G","A","Het","Dmis","Maternal_inheritance","EP300","nonsynonymous SNV","EP300:NM_001429:exon2:c.160G>A:p.G54R","E1A binding protein p300","-4.105042369 (0.237323%)","1(0.2085%)","22q13.2","-","0.952:D","-","-","-","-"]
[7129,"Male","chr15",64005837,64005837,"C","T","Het","Dmis","Maternal_inheritance","HERC1","nonsynonymous SNV","HERC1:NM_003922:exon23:c.4178G>A:p.R1393H","HECT and RLD domain containing E3 ubiquitin protein ligase family member 1","-6.429196083 (0.0578838%)","1(0.2359%)","15q22.31","rs775368218","0.705:D",{"v":2.89e-05,"d":"2.89E-05"},1E-4,"-","-"]
[7129,"Male","chr5",170336735,170336735,"A","G","Het","Dmis","Maternal_inheritance","RANBP17","nonsynonymous SNV","RANBP17:NM_022897:exon6:c.560A>G:p.D187G","RAN binding protein 17","0.062242183 (54.758%)","8.61E-36(99.7970%)","5q35.1","rs781659467","0.884:D",{"v":4.11e-06,"d":"4.11E-06"},0,"-","-"]
[6163,"Female","chr2",210818877,210818877,"T","C","Het","Dmis","Maternal_inheritance","UNC80","nonsynonymous SNV","UNC80:NM_032504:exon47:c.7142T>C:p.L2381P,UNC80:NM_182587:exon47:c.7127T>C:p.L2376P","unc-80 homolog, NALCN activator","-","0.139839111(41.0590%)","2q34","-","0.955:D","-","-","-","-"]
[9517,"Male","chr8",100874067,100874067,"T","G","Het","Dmis","Maternal_inheritance","VPS13B","nonsynonymous SNV","VPS13B:NM_017890:exon58:c.11183T>G:p.L3728R,VPS13B:NM_152564:exon58:c.11108T>G:p.L3703R","vacuolar protein sorting 13 homolog B (yeast)","-2.877970131 (0.769854%)","9.81E-27(99.4239%)","8q22.2","-","0.969:D","-","-","-","-"]
[9517,"Male","chr11",64419043,64419043,"G","A","Het","Dmis","Maternal_inheritance","NRXN2","nonsynonymous SNV","NRXN2:NM_138732:exon12:c.2482C>T:p.R828W,NRXN2:NM_015080:exon14:c.2602C>T:p.R868W","neurexin 2","-3.073708586 (0.654087%)","0.999895574(3.7421%)","11q13.1","rs777696885","0.918:D",{"v":1.22E-5,"d":"1.22E-05"},{"v":0,"d":"0.00E+00"},{"v":3.24e-05,"d":"3.24E-05"},0]
[9553,"Male","chr3",11072965,11072965,"G","A","Het","Dmis","Maternal_inheritance","SLC6A1","nonsynonymous SNV;potential splicing","SLC6A1:NM_001348252:exon12:c.892G>A:p.G298S,SLC6A1:NM_001348253:exon12:c.892G>A:p.G298S,SLC6A1:NM_001348250:exon13:c.1426G>A:p.G476S,SLC6A1:NM_001348251:exon13:c.1066G>A:p.G356S,SLC6A1:NM_003042:exon13:c.1426G>A:p.G476S","-","-","0.999301879(5.4870%)","3p25.3","-","0.979:D",{"v":8.23e-06,"d":"8.23E-06"},0,"-","-"]
[9604,"Male","chr2",149221401,149221401,"A","G","Het","Dmis","Maternal_inheritance","MBD5","nonsynonymous SNV","MBD5:NM_018328:exon8:c.310A>G:p.R104G","methyl-CpG binding domain protein 5","-1.988685078 (2.00857%)","0.999852333(4.0604%)","2q23.1","-","0.931:D","-","-","-","-"]
[9604,"Male","chr9",131339658,131339658,"C","T","Het","Dmis","Maternal_inheritance","SPTAN1","nonsynonymous SNV","SPTAN1:NM_001130438:exon8:c.958C>T:p.R320C,SPTAN1:NM_001195532:exon8:c.958C>T:p.R320C,SPTAN1:NM_003127:exon8:c.958C>T:p.R320C","spectrin alpha, non-erythrocytic 1","-4.04482939 (0.272054%)","1(0.1756%)","9q34.11","rs794727910","0.828:D","-","-","-","-"]
[9604,"Male","chr11",63283130,63283130,"G","A","Het","Dmis","Maternal_inheritance","LGALS12","nonsynonymous SNV","LGALS12:NM_001142538:exon6:c.599G>A:p.G200E,LGALS12:NM_001142536:exon7:c.782G>A:p.G261E,LGALS12:NM_001142537:exon7:c.626G>A:p.G209E,LGALS12:NM_001142535:exon8:c.812G>A:p.G271E,LGALS12:NM_033101:exon8:c.809G>A:p.G270E","lectin, galactoside-binding, soluble, 12","0.486343588 (77.5816%)","2.69E-09(90.2058%)","11q12.3","rs983898511","0.761:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[9761,"Female","chr21",47916975,47916975,"C","T","Het","Dmis","Maternal_inheritance","DIP2A","nonsynonymous SNV","DIP2A:NM_001146115:exon4:c.358C>T:p.R120C,DIP2A:NM_001146116:exon4:c.358C>T:p.R120C,DIP2A:NM_015151:exon4:c.358C>T:p.R120C,DIP2A:NM_206889:exon4:c.358C>T:p.R120C,DIP2A:NM_206890:exon4:c.358C>T:p.R120C,DIP2A:NM_206891:exon4:c.358C>T:p.R120C","disco interacting protein 2 homolog A","-1.954202731 (2.11855%)","0.726099074(23.8134%)","21q22.3","-","0.851:D",{"v":8.13e-06,"d":"8.13E-06"},0,"-","-"]
[9761,"Female","chr10",111878444,111878444,"C","T","Het","Dmis","Maternal_inheritance","ADD3","nonsynonymous SNV","ADD3:NM_001121:exon6:c.667C>T:p.R223C,ADD3:NM_001320592:exon6:c.667C>T:p.R223C,ADD3:NM_001320593:exon6:c.667C>T:p.R223C,ADD3:NM_016824:exon6:c.667C>T:p.R223C,ADD3:NM_019903:exon6:c.667C>T:p.R223C,ADD3:NM_001320591:exon7:c.667C>T:p.R223C,ADD3:NM_001320594:exon7:c.433C>T:p.R145C","adducin 3","-0.078173326 (45.0451%)","0.952357437(14.4746%)","10q25.1","rs368541274","0.935:D",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
[9910,"Male","chr16",15785033,15785033,"C","T","Het","PTV","Maternal_inheritance","NDE1","stopgain","NDE1:NM_017668:exon6:c.556C>T:p.Q186X,NDE1:NM_001143979:exon7:c.556C>T:p.Q186X","nudE neurodevelopment protein 1","-0.467111291 (23.084%)","0.047109548(47.2977%)","16p13.11","rs200096467","0.803:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[9848,"Male","chr15",44856820,44856820,"C","T","Het","Dmis","Maternal_inheritance","SPG11","nonsynonymous SNV","SPG11:NM_001160227:exon37:c.6737G>A:p.G2246E,SPG11:NM_025137:exon39:c.7076G>A:p.G2359E","spastic paraplegia 11 (autosomal recessive)","-1.551577083 (3.66404%)","2.91E-22(99.0069%)","15q21.1","-","0.846:D","-","-","-","-"]
[9978,"Male","chr17",1639402,1639402,"C","T","Het","Dmis","Maternal_inheritance","WDR81","nonsynonymous SNV","WDR81:NM_001163673:exon9:c.1786C>T:p.R596C,WDR81:NM_001163809:exon9:c.5395C>T:p.R1799C,WDR81:NM_001163811:exon9:c.1714C>T:p.R572C,WDR81:NM_152348:exon10:c.2242C>T:p.R748C","WD repeat domain 81","-","1.26E-05(77.4266%)","17p13.3","rs758528747","0.829:D",{"v":8.39e-06,"d":"8.39E-06"},0,"-","-"]
[9978,"Male","chr7",103214566,103214566,"G","A","Het","Dmis","Maternal_inheritance","RELN","nonsynonymous SNV","RELN:NM_005045:exon30:c.4484C>T:p.T1495M,RELN:NM_173054:exon30:c.4484C>T:p.T1495M","reelin","-1.431203386 (4.36444%)","1(0.0823%)","7q22.1","rs369404310","0.773:D",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
["A28","Male","chr19",35530105,35530105,"T","C","Het","Dmis","Maternal_inheritance","SCN1B","nonsynonymous SNV","SCN1B:NM_001037:exon4:c.533T>C:p.M178T,SCN1B:NM_001321605:exon4:c.434T>C:p.M145T","sodium voltage-gated channel beta subunit 1","-0.443679608 (24.2186%)","0.205166938(38.5624%)","19q13.12","-","0.875:D","-","-","-","-"]
["A16","Male","chr21",42080502,42080502,"G","A","Het","Dmis","Maternal_inheritance","DSCAM","nonsynonymous SNV","DSCAM:NM_001271534:exon2:c.239C>T:p.T80I,DSCAM:NM_001389:exon2:c.239C>T:p.T80I","Down syndrome cell adhesion molecule","-4.387829485 (0.185228%)","1(0.4225%)","21q22.2","-","0.832:D","-","-","-","-"]
["A124","Male","chr10",94366026,94366026,"T","C","Het","Dmis","Maternal_inheritance","KIF11","nonsynonymous SNV","KIF11:NM_004523:exon2:c.82T>C:p.F28L","kinesin family member 11","0.371060238 (72.6499%)","0.999996043(2.0960%)","10q23.33","-","0.807:D","-","-","-","-"]
["A124","Male","chr3",114058079,114058079,"A","G","Het","Dmis","Maternal_inheritance","ZBTB20","nonsynonymous SNV","ZBTB20:NM_001164342:exon5:c.1999T>C:p.C667R,ZBTB20:NM_001164346:exon6:c.1780T>C:p.C594R,ZBTB20:NM_001164347:exon6:c.1780T>C:p.C594R,ZBTB20:NM_001164345:exon7:c.1780T>C:p.C594R,ZBTB20:NM_001164344:exon8:c.1780T>C:p.C594R,ZBTB20:NM_001348804:exon10:c.1780T>C:p.C594R,ZBTB20:NM_015642:exon10:c.1780T>C:p.C594R,ZBTB20:NM_001348802:exon11:c.1780T>C:p.C594R,ZBTB20:NM_001348805:exon11:c.1780T>C:p.C594R,ZBTB20:NM_001164343:exon12:c.1780T>C:p.C594R,ZBTB20:NM_001348800:exon12:c.1999T>C:p.C667R,ZBTB20:NM_001348801:exon12:c.1780T>C:p.C594R,ZBTB20:NM_001348803:exon14:c.1999T>C:p.C667R","zinc finger and BTB domain containing 20","-0.92542413 (10.2917%)","0.98255723(11.3141%)","3q13.31","-","0.865:D","-","-","-","-"]
["A124","Male","chr2",50280627,50280627,"C","T","Het","Dmis","Maternal_inheritance","NRXN1","nonsynonymous SNV","NRXN1:NM_001330097:exon4:c.715G>A:p.G239S,NRXN1:NM_138735:exon4:c.715G>A:p.G239S,NRXN1:NM_001330091:exon5:c.805G>A:p.G269S,NRXN1:NM_001330092:exon5:c.805G>A:p.G269S,NRXN1:NM_001330087:exon15:c.3709G>A:p.G1237S,NRXN1:NM_001330096:exon15:c.3709G>A:p.G1237S,NRXN1:NM_001330083:exon16:c.3754G>A:p.G1252S,NRXN1:NM_001330088:exon16:c.3739G>A:p.G1247S,NRXN1:NM_001330084:exon17:c.3844G>A:p.G1282S,NRXN1:NM_001330095:exon18:c.3769G>A:p.G1257S,NRXN1:NM_001330077:exon20:c.3886G>A:p.G1296S,NRXN1:NM_001330082:exon20:c.3886G>A:p.G1296S,NRXN1:NM_001330085:exon20:c.3883G>A:p.G1295S,NRXN1:NM_001330094:exon20:c.3898G>A:p.G1300S,NRXN1:NM_004801:exon20:c.3820G>A:p.G1274S,NRXN1:NM_001330078:exon21:c.3910G>A:p.G1304S,NRXN1:NM_001330086:exon21:c.3910G>A:p.G1304S,NRXN1:NM_001330093:exon21:c.3907G>A:p.G1303S,NRXN1:NM_001135659:exon22:c.4030G>A:p.G1344S","neurexin 1","-1.883401977 (2.29799%)","0.999948738(3.2209%)","2p16.3","-","0.967:D","-","-","-","-"]
["A109","Male","chr17",18138573,18138573,"C","T","Het","Dmis","Maternal_inheritance","LLGL1","nonsynonymous SNV","LLGL1:NM_004140:exon10:c.1231C>T:p.R411C","lethal giant larvae homolog 1, scribble cell polarity complex component","-1.695070442 (2.9405%)","0.977463207(12.0988%)","17p11.2","-","0.807:D",{"v":4.13e-06,"d":"4.13E-06"},0,"-","-"]
["A136","Male","chr9",131367450,131367450,"G","A","Het","Dmis","Maternal_inheritance","SPTAN1","nonsynonymous SNV","SPTAN1:NM_001195532:exon29:c.3797G>A:p.G1266D,SPTAN1:NM_001130438:exon30:c.3857G>A:p.G1286D,SPTAN1:NM_003127:exon30:c.3857G>A:p.G1286D","spectrin alpha, non-erythrocytic 1","-4.04482939 (0.272054%)","1(0.1756%)","9q34.11","-","0.858:D","-","-","-","-"]
["A139","Male","chr22",40760945,40760945,"G","C","Het","Dmis","Maternal_inheritance","ADSL","nonsynonymous SNV","ADSL:NM_000026:exon12:c.1253G>C:p.G418A,ADSL:NM_001317923:exon12:c.1061G>C:p.G354A","adenylosuccinate lyase","-0.310596629 (30.8347%)","0.000212575(69.5967%)","22q13.1","-","0.934:D","-","-","-","-"]
["A139","Male","chr2",240960735,240960735,"A","C","Het","Dmis","Maternal_inheritance","NDUFA10","nonsynonymous SNV","NDUFA10:NM_001322019:exon3:c.339T>G:p.S113R,NDUFA10:NM_001322020:exon3:c.339T>G:p.S113R,NDUFA10:NM_004544:exon3:c.339T>G:p.S113R","NADH:ubiquinone oxidoreductase subunit A10","0.049916992 (53.9187%)","0.00138794(63.3800%)","2q37.3","-","0.831:D","-","-","-","-"]
["A112","Male","chr9",399176,399176,"A","G","Het","Dmis","Maternal_inheritance","DOCK8","nonsynonymous SNV","DOCK8:NM_001190458:exon24:c.2851A>G:p.S951G,DOCK8:NM_001193536:exon25:c.2947A>G:p.S983G,DOCK8:NM_203447:exon26:c.3151A>G:p.S1051G","dedicator of cytokinesis 8","-0.828277355 (12.254%)","0.000135434(70.9410%)","9p24.3","-","0.867:D","-","-","-","-"]
["A112","Male","chr1",42046504,42046504,"C","T","Het","Dmis","Maternal_inheritance","HIVEP3","nonsynonymous SNV","HIVEP3:NM_001127714:exon3:c.3965G>A:p.R1322H,HIVEP3:NM_024503:exon4:c.3965G>A:p.R1322H","human immunodeficiency virus type I enhancer binding protein 3","0.715684558 (85.2628%)","0.030810602(49.4486%)","1p34.2","rs890516326","0.849:D",{"v":9e-06,"d":"9.00E-06"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A121","Female","chr8",100147288,100147288,"G","T","Het","Dmis","Maternal_inheritance","VPS13B","nonsynonymous SNV","VPS13B:NM_015243:exon10:c.1348G>T:p.V450F,VPS13B:NM_017890:exon10:c.1348G>T:p.V450F,VPS13B:NM_152564:exon10:c.1348G>T:p.V450F","vacuolar protein sorting 13 homolog B (yeast)","-2.877970131 (0.769854%)","9.81E-27(99.4239%)","8q22.2","-","0.746:D","-","-","-","-"]
["A121","Female","chr1",111147265,111147265,"T","G","Het","Dmis","Maternal_inheritance","KCNA2","nonsynonymous SNV","KCNA2:NM_001204269:exon3:c.140A>C:p.Q47P,KCNA2:NM_004974:exon3:c.140A>C:p.Q47P","potassium voltage-gated channel subfamily A member 2","-0.777805434 (13.4059%)","0.884173956(18.3813%)","1p13.3","-","0.936:D","-","-","-","-"]
["A127","Male","chr9",139995540,139995540,"C","T","Het","Dmis","Maternal_inheritance","MAN1B1","nonsynonymous SNV","MAN1B1:NM_016219:exon7:c.1000C>T:p.R334C","mannosidase alpha class 1B member 1","-0.155810972 (39.5751%)","2.63E-06(80.6804%)","9q34.3","rs387906886","0.925:D",{"v":4.06e-05,"d":"4.06E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A127","Male","chr1",197072451,197072451,"A","G","Het","Dmis","Maternal_inheritance","ASPM","nonsynonymous SNV","ASPM:NM_018136:exon18:c.5930T>C:p.I1977T","abnormal spindle microtubule assembly","0.345649059 (71.4459%)","6.16E-26(99.3690%)","1q31.3","-","0.861:D","-","-","-","-"]
["A400","Male","chr11",119216271,119216271,"T","-","Het","PTV","Maternal_inheritance","MFRP","frameshift deletion","MFRP:NM_031433:exon5:c.500delA:p.N167Tfs*24","membrane frizzled-related protein","-0.443221077 (24.2417%)","5.34E-08(86.8258%)","11q23.3","-","-",{"v":4.11e-06,"d":"4.11E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A400","Male","chr21",41427663,41427663,"A","C","Het","Dmis","Maternal_inheritance","DSCAM","nonsynonymous SNV","DSCAM:NM_001271534:exon29:c.5024T>G:p.M1675R,DSCAM:NM_001389:exon29:c.5024T>G:p.M1675R","Down syndrome cell adhesion molecule","-4.387829485 (0.185228%)","1(0.4225%)","21q22.2","-","0.838:D","-","-","-","-"]
["A837","Male","chr15",66819666,66819666,"G","A","Het","PTV","Maternal_inheritance","ZWILCH","stopgain","ZWILCH:NM_001287822:exon8:c.516G>A:p.W172X,ZWILCH:NM_001287823:exon8:c.516G>A:p.W172X,ZWILCH:NM_001287821:exon9:c.516G>A:p.W172X,ZWILCH:NM_017975:exon9:c.858G>A:p.W286X","zwilch kinetochore protein","0.215328279 (64.5867%)","8.31E-06(78.4746%)","15q22.31","-","0.878:D","-","-","-","-"]
["A837","Male","chr3",136045680,136045680,"C","T","Het","Dmis","Maternal_inheritance","PCCB","nonsynonymous SNV","PCCB:NM_000532:exon11:c.1126C>T:p.R376C,PCCB:NM_001178014:exon12:c.1186C>T:p.R396C","propionyl-CoA carboxylase beta subunit","0.356066389 (71.9495%)","0.000735839(65.7394%)","3q22.3","rs200306164","0.999:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
[9779,"Male","chr14",21868682,21868682,"A","T","Het","Dmis","Maternal_inheritance","CHD8","nonsynonymous SNV","CHD8:NM_001170629:exon22:c.4460T>A:p.L1487H,CHD8:NM_020920:exon23:c.3623T>A:p.L1208H","chromodomain helicase DNA binding protein 8","-2.361431018 (1.25029%)","1(0.2469%)","14q11.2","-","0.967:D","-","-","-","-"]
["A1720","Male","chr10",79742538,79742538,"G","C","Het","Dmis","Maternal_inheritance","POLR3A","nonsynonymous SNV","POLR3A:NM_007055:exon27:c.3467C>G:p.S1156C","polymerase (RNA) III subunit A","-2.256686659 (1.40079%)","7.39E-14(96.1756%)","10q22.3","-","0.827:D","-","-","-","-"]
["A2023","Male","chr1",100588805,100588805,"A","G","Het","Dmis","Maternal_inheritance","SASS6","nonsynonymous SNV","SASS6:NM_194292:exon3:c.167T>C:p.F56S","SAS-6 centriolar assembly protein","-0.558960442 (19.6921%)","5.00E-05(73.8381%)","1p21.2","-","0.988:D","-","-","-","-"]
["A1987","Male","chr15",28377966,28377966,"G","A","Het","Dmis","Maternal_inheritance","HERC2","nonsynonymous SNV","HERC2:NM_004667:exon80:c.12241C>T:p.R4081C","HECT and RLD domain containing E3 ubiquitin protein ligase 2","-4.457155603 (0.162075%)","1(0.0055%)","15q13.1","rs762031308","0.957:D",{"v":1.54e-05,"d":"1.54E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A1990","Male","chr15",28377966,28377966,"G","A","Het","Dmis","Maternal_inheritance","HERC2","nonsynonymous SNV","HERC2:NM_004667:exon80:c.12241C>T:p.R4081C","HECT and RLD domain containing E3 ubiquitin protein ligase 2","-4.457155603 (0.162075%)","1(0.0055%)","15q13.1","rs762031308","0.957:D",{"v":1.54e-05,"d":"1.54E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A1990","Male","chr12",58122155,58122155,"G","A","Het","Dmis","Maternal_inheritance","AGAP2","nonsynonymous SNV","AGAP2:NM_001122772:exon14:c.2563C>T:p.R855C","ArfGAP with GTPase domain, ankyrin repeat and PH domain 2","-0.672682663 (16.2248%)","0.999218902(5.5912%)","12q14.1","rs963412547","0.833:D","-","-","-","-"]
["A145","Male","chr21",41559845,41559845,"G","A","Het","Dmis","Maternal_inheritance","DSCAM","nonsynonymous SNV","DSCAM:NM_001271534:exon13:c.2623C>T:p.R875C,DSCAM:NM_001389:exon13:c.2623C>T:p.R875C","Down syndrome cell adhesion molecule","-4.387829485 (0.185228%)","1(0.4225%)","21q22.2","-","0.862:D",{"v":1.63E-5,"d":"1.63E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A145","Male","chr3",54798281,54798281,"A","G","Het","Dmis","Maternal_inheritance","CACNA2D3","nonsynonymous SNV","CACNA2D3:NM_018398:exon13:c.1283A>G:p.Q428R","calcium voltage-gated channel auxiliary subunit alpha2delta 3","-1.223659583 (6.34406%)","0.998032255(6.8642%)","3p14.3","rs774970916","0.833:D",{"v":4.88E-5,"d":"4.88E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2254","Male","chr3",1414142,1414142,"T","C","Het","Dmis","Maternal_inheritance","CNTN6","nonsynonymous SNV","CNTN6:NM_001349357:exon11:c.1340T>C:p.F447S,CNTN6:NM_001349358:exon11:c.1097T>C:p.F366S,CNTN6:NM_001349359:exon11:c.530T>C:p.F177S,CNTN6:NM_001349360:exon11:c.530T>C:p.F177S,CNTN6:NM_001289081:exon12:c.1436T>C:p.F479S,CNTN6:NM_001349356:exon12:c.1544T>C:p.F515S,CNTN6:NM_001349362:exon12:c.530T>C:p.F177S,CNTN6:NM_001289080:exon13:c.1652T>C:p.F551S,CNTN6:NM_014461:exon13:c.1652T>C:p.F551S,CNTN6:NM_001349352:exon14:c.1652T>C:p.F551S,CNTN6:NM_001349353:exon14:c.1652T>C:p.F551S,CNTN6:NM_001349354:exon14:c.1652T>C:p.F551S,CNTN6:NM_001349355:exon14:c.1652T>C:p.F551S,CNTN6:NM_001349361:exon14:c.530T>C:p.F177S,CNTN6:NM_001349350:exon15:c.1652T>C:p.F551S,CNTN6:NM_001349351:exon15:c.1652T>C:p.F551S","contactin 6","-0.826604557 (12.3003%)","3.59E-22(98.9904%)","3p26.3","-","0.927:D","-","-","-","-"]
["A2311","Male","chr2",25462054,25462054,"C","T","Het","Dmis","Maternal_inheritance","DNMT3A","nonsynonymous SNV","DNMT3A:NM_001320893:exon15:c.1897G>A:p.V633M,DNMT3A:NM_153759:exon16:c.1786G>A:p.V596M,DNMT3A:NM_022552:exon20:c.2353G>A:p.V785M,DNMT3A:NM_175629:exon20:c.2353G>A:p.V785M","DNA (cytosine-5-)-methyltransferase 3 alpha","-1.956719104 (2.10118%)","7.73E-45(99.9287%)","2p23.3","-","0.889:D","-","-","-","-"]
["A2437","Male","chr6",80629144,80629144,"A","C","Het","Dmis","Maternal_inheritance","ELOVL4","nonsynonymous SNV","ELOVL4:NM_022726:exon5:c.662T>G:p.L221W","ELOVL fatty acid elongase 4","-0.352612931 (28.6062%)","0.741051155(23.3909%)","6q14.1","-","0.854:D",{"v":8.13e-06,"d":"8.13E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2437","Male","chr3",3078959,3078959,"T","C","Het","Dmis","Maternal_inheritance","CNTN4","nonsynonymous SNV","CNTN4:NM_001206956:exon9:c.1052T>C:p.I351T,CNTN4:NM_175613:exon9:c.1055T>C:p.I352T,CNTN4:NM_001206955:exon17:c.2039T>C:p.I680T,CNTN4:NM_001350095:exon18:c.2039T>C:p.I680T,CNTN4:NM_175607:exon18:c.2039T>C:p.I680T","contactin 4","-0.517119498 (21.0986%)","0.996606388(7.6872%)","3p26.2","-","0.818:D","-","-","-","-"]
["A2543","Female","chr1",197091339,197091339,"G","T","Het","Dmis","Maternal_inheritance","ASPM","nonsynonymous SNV","ASPM:NM_001206846:exon15:c.3691C>A:p.P1231T,ASPM:NM_018136:exon15:c.3691C>A:p.P1231T","abnormal spindle microtubule assembly","0.345649059 (71.4459%)","6.16E-26(99.3690%)","1q31.3","-","0.903:D","-","-","-","-"]
["A2809","Male","chr3",53757676,53757676,"A","G","Het","Dmis","Maternal_inheritance","CACNA1D","nonsynonymous SNV","CACNA1D:NM_001128839:exon13:c.1882A>G:p.K628E,CACNA1D:NM_001128840:exon13:c.1882A>G:p.K628E,CACNA1D:NM_000720:exon14:c.1942A>G:p.K648E","calcium voltage-gated channel subunit alpha1 D","-3.707735568 (0.382033%)","1(0.2798%)","3p21.1","-","0.993:D","-","-","-","-"]
["A2812","Male","chr2",27587334,27587334,"G","A","Het","Dmis","Maternal_inheritance","EIF2B4","nonsynonymous SNV","EIF2B4:NM_001318965:exon12:c.1568C>T:p.T523M,EIF2B4:NM_001318968:exon12:c.920C>T:p.T307M,EIF2B4:NM_172195:exon12:c.1565C>T:p.T522M,EIF2B4:NM_001034116:exon13:c.1505C>T:p.T502M,EIF2B4:NM_001318966:exon13:c.1460C>T:p.T487M,EIF2B4:NM_001318967:exon13:c.1412C>T:p.T471M,EIF2B4:NM_001318969:exon13:c.887C>T:p.T296M,EIF2B4:NM_015636:exon13:c.1502C>T:p.T501M","eukaryotic translation initiation factor 2B subunit delta","-0.372296227 (27.7379%)","0.832609529(20.4829%)","2p23.3","rs749942048","0.939:D",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
["A2812","Male","chr16",2547026,2547026,"C","T","Het","Dmis","Maternal_inheritance","TBC1D24","nonsynonymous SNV","TBC1D24:NM_001199107:exon2:c.877C>T:p.R293C,TBC1D24:NM_020705:exon2:c.877C>T:p.R293C","TBC1 domain family member 24","-0.684709751 (15.9759%)","5.84E-07(83.4348%)","16p13.3","rs367966267","0.816:D",{"v":1.22E-5,"d":"1.22E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["s3879","Male","chr5",14508457,14508457,"A","G","Het","Dmis","Paternal_inheritance","TRIO","nonsynonymous SNV","TRIO:NM_007118:exon57:c.9220A>G:p.K3074E","trio Rho guanine nucleotide exchange factor","-4.532800748 (0.150498%)","1(0.1536%)","5p15.2","-","0.846:D","-","-","-","-"]
["s4145","Female","chr10",61842392,61842392,"G","A","Het","Dmis","Paternal_inheritance","ANK3","nonsynonymous SNV","ANK3:NM_001149:exon12:c.1706C>T:p.T569I,ANK3:NM_001320874:exon34:c.4304C>T:p.T1435I,ANK3:NM_020987:exon34:c.4304C>T:p.T1435I,ANK3:NM_001204403:exon35:c.4286C>T:p.T1429I,ANK3:NM_001204404:exon35:c.4307C>T:p.T1436I","ankyrin 3, node of Ranvier (ankyrin G)","-5.215169063 (0.0752489%)","1(0.1481%)","10q21.2","-","0.910:D","-","-","-","-"]
["s4145","Female","chr1",47765649,47765649,"A","T","Het","Dmis","Paternal_inheritance","STIL","nonsynonymous SNV","STIL:NM_001048166:exon6:c.629T>A:p.I210N,STIL:NM_003035:exon6:c.629T>A:p.I210N,STIL:NM_001282936:exon7:c.629T>A:p.I210N,STIL:NM_001282937:exon7:c.629T>A:p.I210N","SCL/TAL1 interrupting locus","-0.109268378 (42.6198%)","0.20268784(38.6173%)","1p33","-","0.857:D","-","-","-","-"]
[9496,"Male","chr16",3777768,3777768,"A","T","Het","Dmis","Paternal_inheritance","CREBBP","nonsynonymous SNV","CREBBP:NM_001079846:exon30:c.7166T>A:p.V2389D,CREBBP:NM_004380:exon31:c.7280T>A:p.V2427D","CREB binding protein","-4.226101807 (0.21417%)","1(0.1701%)","16p13.3","-","0.806:D","-","-","-","-"]
["A589","Male","chr18",3742414,3742414,"T","C","Het","Dmis","Paternal_inheritance","DLGAP1","nonsynonymous SNV","DLGAP1:NM_001003809:exon3:c.365A>G:p.D122G,DLGAP1:NM_001242762:exon3:c.407A>G:p.D136G,DLGAP1:NM_001242763:exon3:c.407A>G:p.D136G,DLGAP1:NM_001242764:exon3:c.389A>G:p.D130G,DLGAP1:NM_001242765:exon3:c.365A>G:p.D122G,DLGAP1:NM_001242766:exon3:c.365A>G:p.D122G,DLGAP1:NM_001308390:exon3:c.389A>G:p.D130G,DLGAP1:NM_001242761:exon6:c.1271A>G:p.D424G,DLGAP1:NM_004746:exon6:c.1271A>G:p.D424G","discs large homolog associated protein 1","-2.152531033 (1.60917%)","0.993045514(9.1029%)","18p11.31","-","0.743:D","-","-","-","-"]
["A1858","Male","chr9",370257,370257,"G","A","Het","Dmis","Paternal_inheritance","DOCK8","nonsynonymous SNV","DOCK8:NM_001190458:exon15:c.1621G>A:p.E541K,DOCK8:NM_001193536:exon15:c.1621G>A:p.E541K,DOCK8:NM_203447:exon16:c.1825G>A:p.E609K","dedicator of cytokinesis 8","-0.828277355 (12.254%)","0.000135434(70.9410%)","9p24.3","-","0.878:D","-","-","-","-"]
[9469,"Female","chr9",133942473,133942473,"-","C","Het","PTV","Paternal_inheritance","LAMC3","frameshift insertion","LAMC3:NM_006059:exon14:c.2475dupC:p.L827Pfs*14","laminin subunit gamma 3","2.420983809 (99.016%)","9.82E-11(92.8999%)","9q34.12","-","-","-","-","-","-"]
[9469,"Female","chr3",3195171,3195171,"C","A","Het","Dmis","Paternal_inheritance","CRBN","nonsynonymous SNV;potential splicing","CRBN:NM_001173482:exon9:c.950G>T:p.C317F,CRBN:NM_016302:exon9:c.953G>T:p.C318F","-","-","0.038494438(48.4664%)","3p26.2","-","0.748:D","-","-","-","-"]
[9496,"Male","chr6",86246508,86246508,"A","G","Het","PTV","Paternal_inheritance","SNX14","splicing","NM_001304479:exon17:c.1452+2T>C;NM_001297614:exon16:c.1581+2T>C;NM_020468:exon14:c.1449+2T>C;NM_153816:exon17:c.1608+2T>C;NM_001350532:exon18:c.1671+2T>C;NM_001350533:exon17:c.1605+2T>C;NM_001350534:exon16:c.1578+2T>C;NM_001350535:exon17:c.1605+2T>C;NM_001350536:exon15:c.1476+2T>C;NM_001350537:exon15:c.1473+2T>C;NM_001350538:exon17:c.1464+2T>C;NM_001350539:exon17:c.1449+2T>C;NM_001350540:exon17:c.1608+2T>C;NM_001350541:exon16:c.1581+2T>C;NM_001350542:exon15:c.1320+2T>C;NM_001350543:exon15:c.1317+2T>C;NM_001350544:exon17:c.1308+2T>C;NM_001350545:exon16:c.1164+2T>C;NM_001350546:exon16:c.1164+2T>C;NM_001350547:exon16:c.558+2T>C;NM_001350548:exon15:c.453+2T>C;NM_001350549:exon17:c.453+2T>C;NM_001350550:exon17:c.453+2T>C;NM_001350551:exon16:c.453+2T>C;NM_001350552:exon17:c.453+2T>C;NM_001350553:exon16:c.426+2T>C","sorting nexin 14","-0.66893469 (16.3232%)","6.80E-10(91.3525%)","6q14.3","-","0.734:D","-","-","-","-"]
[9469,"Female","chr5",236715,236715,"G","T","Het","PTV","Paternal_inheritance","SDHA","splicing","NM_001294332:exon9:c.1288+1G>T;NM_004168:exon10:c.1432+1G>T;NM_001330758:exon10:c.1432+1G>T","succinate dehydrogenase complex flavoprotein subunit A","-0.651593635 (16.821%)","9.39E-06(78.1674%)","5p15.33","-","0.663:T","-","-","-","-"]
[10348,"Male","chr12",2774131,2774131,"G","C","Het","Dmis","Maternal_inheritance","CACNA1C","nonsynonymous SNV","CACNA1C:NM_001129837:exon34:c.4340G>C:p.S1447T,CACNA1C:NM_001129838:exon34:c.4340G>C:p.S1447T,CACNA1C:NM_001129839:exon34:c.4334G>C:p.S1445T,CACNA1C:NM_001129846:exon34:c.4340G>C:p.S1447T,CACNA1C:NM_001167625:exon34:c.4340G>C:p.S1447T,CACNA1C:NM_000719:exon35:c.4373G>C:p.S1458T,CACNA1C:NM_001129829:exon35:c.4439G>C:p.S1480T,CACNA1C:NM_001129830:exon35:c.4373G>C:p.S1458T,CACNA1C:NM_001129833:exon35:c.4373G>C:p.S1458T,CACNA1C:NM_001129834:exon35:c.4373G>C:p.S1458T,CACNA1C:NM_001129835:exon35:c.4373G>C:p.S1458T,CACNA1C:NM_001129836:exon35:c.4424G>C:p.S1475T,CACNA1C:NM_001129840:exon35:c.4373G>C:p.S1458T,CACNA1C:NM_001129841:exon35:c.4373G>C:p.S1458T,CACNA1C:NM_001129842:exon35:c.4373G>C:p.S1458T,CACNA1C:NM_001129843:exon35:c.4373G>C:p.S1458T,CACNA1C:NM_001129844:exon35:c.4364G>C:p.S1455T,CACNA1C:NM_001167623:exon35:c.4373G>C:p.S1458T,CACNA1C:NM_001167624:exon35:c.4373G>C:p.S1458T,CACNA1C:NM_001129831:exon36:c.4457G>C:p.S1486T,CACNA1C:NM_001129832:exon36:c.4433G>C:p.S1478T,CACNA1C:NM_001129827:exon37:c.4517G>C:p.S1506T,CACNA1C:NM_199460:exon37:c.4517G>C:p.S1506T","calcium voltage-gated channel subunit alpha1 C","-1.577206682 (3.53091%)","0.999998433(1.8107%)","12p13.33","-","0.887:D","-","-","-","-"]
[5294,"Male","chr22",50656430,50656440,"GGGCCCCCAGG","-","Het","PTV","Maternal_inheritance","TUBGCP6","frameshift deletion","TUBGCP6:NM_020461:exon24:c.5275_5285del:p.P1759Afs*67","tubulin gamma complex associated protein 6","0.353636398 (71.8338%)","5.09E-19(98.3978%)","22q13.33","rs757636489","-",{"v":9.1e-05,"d":"9.10E-05"},{"v":0,"d":"0.00E+00"},{"v":9.71e-05,"d":"9.71E-05"},0]
[5294,"Male","chr6",33408640,33408640,"C","T","Het","Dmis","Maternal_inheritance","SYNGAP1","nonsynonymous SNV","SYNGAP1:NM_001130066:exon11:c.1811C>T:p.S604L,SYNGAP1:NM_006772:exon11:c.1811C>T:p.S604L","synaptic Ras GTPase activating protein 1","-2.294718003 (1.36027%)","0.99999845(1.7942%)","6p21.32","-","0.930:D","-","-","-","-"]
[5300,"Female","chr15",52418211,52418211,"C","T","Het","Dmis","Maternal_inheritance","GNB5","nonsynonymous SNV","GNB5:NM_006578:exon9:c.817G>A:p.E273K,GNB5:NM_016194:exon11:c.943G>A:p.E315K","G protein subunit beta 5","-0.391820636 (26.8118%)","0.001442929(63.1276%)","15q21.2","-","0.881:D",{"v":4.19e-06,"d":"4.19E-06"},{"v":5.89e-05,"d":"5.89E-05"},"-","-"]
[5303,"Male","chr6",43099821,43099821,"C","T","Het","Dmis","Maternal_inheritance","PTK7","nonsynonymous SNV","PTK7:NM_001270398:exon6:c.904C>T:p.R302C,PTK7:NM_002821:exon6:c.880C>T:p.R294C,PTK7:NM_152880:exon6:c.880C>T:p.R294C,PTK7:NM_152881:exon6:c.880C>T:p.R294C,PTK7:NM_152882:exon6:c.880C>T:p.R294C","protein tyrosine kinase 7 (inactive)","-1.399907107 (4.57861%)","0.975879481(12.2414%)","6p21.1","rs552297655","0.764:D","-","-","-","-"]
[5316,"Male","chr5",32390430,32390430,"C","T","Het","Dmis","Maternal_inheritance","ZFR","nonsynonymous SNV","ZFR:NM_016107:exon12:c.2093G>A:p.G698D","zinc finger RNA binding protein","-1.373309171 (4.82172%)","0.99999967(1.3333%)","5p13.3","-","0.878:D","-","-","-","-"]
[5376,"Male","chr7",50605574,50605574,"C","G","Het","Dmis","Maternal_inheritance","DDC","nonsynonymous SNV","DDC:NM_001242886:exon3:c.305G>C:p.G102A,DDC:NM_000790:exon4:c.419G>C:p.G140A,DDC:NM_001082971:exon4:c.419G>C:p.G140A,DDC:NM_001242887:exon4:c.419G>C:p.G140A,DDC:NM_001242889:exon4:c.419G>C:p.G140A,DDC:NM_001242890:exon4:c.419G>C:p.G140A","dopa decarboxylase","-0.736567234 (14.4883%)","4.61E-05(74.0631%)","7p12.1","-","0.830:D","-","-","-","-"]
[5382,"Male","chr15",72645491,72645491,"T","C","Het","Dmis","Maternal_inheritance","HEXA","nonsynonymous SNV","HEXA:NM_000520:exon5:c.488A>G:p.D163G,HEXA:NM_001318825:exon5:c.521A>G:p.D174G","hexosaminidase subunit alpha","-0.266236653 (33.2079%)","5.05E-07(83.6818%)","15q23","-","0.973:D","-","-","-","-"]
[5391,"Male","chr17",76490152,76490152,"A","C","Het","Dmis","Maternal_inheritance","DNAH17","nonsynonymous SNV","DNAH17:NM_173628:exon41:c.6374T>G:p.F2125C","dynein axonemal heavy chain 17","-","-","17q25.3","-","0.925:D","-","-","-","-"]
[5391,"Male","chr22",40719205,40719205,"T","G","Het","Dmis","Maternal_inheritance","TNRC6B","nonsynonymous SNV","TNRC6B:NM_015088:exon21:c.5132T>G:p.L1711R,TNRC6B:NM_001162501:exon23:c.5462T>G:p.L1821R,TNRC6B:NM_001024843:exon24:c.3050T>G:p.L1017R","trinucleotide repeat containing 6B","-1.63119868 (3.24149%)","0.999999803(1.2016%)","22q13.1","-","0.916:D","-","-","-","-"]
[5391,"Male","chr6",107955265,107955265,"A","C","Het","Dmis","Maternal_inheritance","SOBP","nonsynonymous SNV","SOBP:NM_018013:exon6:c.1217A>C:p.Q406P","sine oculis binding protein homolog","-0.501790511 (21.7643%)","-","6q21","-","0.805:D","-","-","-","-"]
[5391,"Male","chr8",141449264,141449264,"C","T","Het","Dmis","Maternal_inheritance","TRAPPC9","nonsynonymous SNV","TRAPPC9:NM_001160372:exon3:c.617G>A:p.R206Q,TRAPPC9:NM_001321646:exon3:c.617G>A:p.R206Q,TRAPPC9:NM_031466:exon3:c.911G>A:p.R304Q","trafficking protein particle complex 9","-0.329836902 (29.8217%)","5.76E-06(79.2209%)","8q24.3","-","0.833:D",{"v":8.15e-06,"d":"8.15E-06"},0,"-","-"]
[5404,"Male","chr2",205829879,205829879,"T","C","Het","Dmis","Maternal_inheritance","PARD3B","nonsynonymous SNV","PARD3B:NM_001302769:exon3:c.227T>C:p.I76T,PARD3B:NM_057177:exon3:c.227T>C:p.I76T,PARD3B:NM_152526:exon3:c.227T>C:p.I76T,PARD3B:NM_205863:exon3:c.227T>C:p.I76T","par-3 family cell polarity regulator beta","0.394809114 (73.7902%)","8.65E-08(86.2387%)","2q33.3","rs373504735","0.863:D",{"v":2.44E-5,"d":"2.44E-05"},{"v":1E-4,"d":"1.00E-04"},{"v":3.23e-05,"d":"3.23E-05"},0]
[5404,"Male","chr7",103243937,103243937,"C","A","Het","Dmis","Maternal_inheritance","RELN","nonsynonymous SNV;potential splicing","RELN:NM_005045:exon24:c.3147G>T:p.R1049S,RELN:NM_173054:exon24:c.3147G>T:p.R1049S","-","-","1(0.0823%)","7q22.1","-","0.603:T","-","-","-","-"]
[5413,"Female","chr21",47970564,47970564,"C","T","Het","Dmis","Maternal_inheritance","DIP2A","nonsynonymous SNV","DIP2A:NM_001146116:exon23:c.2734C>T:p.R912C,DIP2A:NM_015151:exon23:c.2746C>T:p.R916C","disco interacting protein 2 homolog A","-1.954202731 (2.11855%)","0.726099074(23.8134%)","21q22.3","rs368888478","0.720:D",{"v":6.1e-05,"d":"6.10E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[5432,"Female","chr11",128839814,128839814,"C","T","Het","Dmis","Maternal_inheritance","ARHGAP32","nonsynonymous SNV","ARHGAP32:NM_014715:exon13:c.4205G>A:p.R1402H,ARHGAP32:NM_001142685:exon22:c.5252G>A:p.R1751H","Rho GTPase activating protein 32","-1.588685966 (3.44987%)","0.98708852(10.5350%)","11q24.3","rs369657717","0.769:D",{"v":8.12e-06,"d":"8.12E-06"},0,"-","-"]
[5432,"Female","chrX",41056665,41056665,"G","A","Het","Dmis","Maternal_inheritance","USP9X","nonsynonymous SNV","USP9X:NM_001039590:exon29:c.4282G>A:p.E1428K,USP9X:NM_001039591:exon29:c.4282G>A:p.E1428K","ubiquitin specific peptidase 9, X-linked","-3.759904212 (0.358879%)","1(0.2963%)","Xp11.4","-","0.908:D","-","-","-","-"]
[5442,"Male","chrX",73641872,73641872,"-","A","Hemi","PTV","Maternal_inheritance","SLC16A2","frameshift insertion","SLC16A2:NM_006517:exon1:c.401dupA:p.N136Kfs*30","solute carrier family 16 member 2","-0.095397409 (43.7543%)","0.934351643(15.8354%)","Xq13.2","-","-","-","-","-","-"]
[5445,"Male","chr14",68228960,68228960,"A","G","Het","Dmis","Maternal_inheritance","ZFYVE26","nonsynonymous SNV","ZFYVE26:NM_015346:exon34:c.6329T>C:p.V2110A","zinc finger FYVE-type containing 26","-0.954662356 (9.78236%)","1.04E-11(94.1948%)","14q24.1","rs754170372","0.727:D",{"v":2.84e-05,"d":"2.84E-05"},{"v":0,"d":"0.00E+00"},{"v":6.46e-05,"d":"6.46E-05"},0]
[5445,"Male","chr7",99709563,99709563,"A","T","Het","Dmis","Maternal_inheritance","TAF6","nonsynonymous SNV","TAF6:NM_001190415:exon8:c.891T>A:p.S297R,TAF6:NM_005641:exon8:c.780T>A:p.S260R,TAF6:NM_139315:exon8:c.780T>A:p.S260R","TATA-box binding protein associated factor 6","-1.270984505 (5.73049%)","0.000674165(66.0521%)","7q22.1","-","0.933:D","-","-","-","-"]
[6319,"Male","chr4",85758087,85758087,"C","G","Het","Dmis","Maternal_inheritance","WDFY3","nonsynonymous SNV","WDFY3:NM_014991:exon7:c.571G>C:p.V191L","WD repeat and FYVE domain containing 3","-5.034619678 (0.0984024%)","1(0.0055%)","4q21.23","rs367736064","0.737:D",{"v":3.53e-05,"d":"3.53E-05"},{"v":0,"d":"0.00E+00"},{"v":9.69e-05,"d":"9.69E-05"},0]
["A599","Male","chr21",41516544,41516544,"C","A","Het","Dmis","Maternal_inheritance","DSCAM","nonsynonymous SNV","DSCAM:NM_001271534:exon17:c.3133G>T:p.D1045Y,DSCAM:NM_001389:exon17:c.3133G>T:p.D1045Y","Down syndrome cell adhesion molecule","-4.387829485 (0.185228%)","1(0.4225%)","21q22.2","-","0.854:D","-","-","-","-"]
["A906","Female","chr16",89598912,89598912,"C","T","Het","PTV","Maternal_inheritance","SPG7","stopgain","SPG7:NM_003119:exon9:c.1192C>T:p.R398X,SPG7:NM_199367:exon9:c.1192C>T:p.R398X","SPG7, paraplegin matrix AAA peptidase subunit","-0.909998092 (10.6043%)","1.38E-18(98.2826%)","16q24.3","-","0.739:D",{"v":1.64e-05,"d":"1.64E-05"},{"v":5.81e-05,"d":"5.81E-05"},"-","-"]
["s4603","Male","chr10",104866434,104866434,"C","G","Het","Dmis","Maternal_inheritance","NT5C2","nonsynonymous SNV","NT5C2:NM_001351174:exon3:c.118G>C:p.G40R,NT5C2:NM_001134373:exon4:c.205G>C:p.G69R,NT5C2:NM_001351170:exon4:c.205G>C:p.G69R,NT5C2:NM_001351173:exon4:c.205G>C:p.G69R,NT5C2:NM_001351169:exon5:c.205G>C:p.G69R,NT5C2:NM_001351171:exon5:c.205G>C:p.G69R,NT5C2:NM_001351172:exon5:c.205G>C:p.G69R,NT5C2:NM_012229:exon5:c.205G>C:p.G69R,NT5C2:NM_001351175:exon6:c.112G>C:p.G38R","5'-nucleotidase, cytosolic II","-0.552085504 (19.9583%)","0.052197863(46.7051%)","10q24.32","-","0.948:D","-","-","-","-"]
["s4603","Male","chr8",133186487,133186487,"G","A","Het","Dmis","Maternal_inheritance","KCNQ3","nonsynonymous SNV;potential splicing","KCNQ3:NM_001204824:exon6:c.683C>T:p.A228V,KCNQ3:NM_004519:exon6:c.1043C>T:p.A348V","-","-","0.985604294(10.7929%)","8q24.22","rs796052679","0.813:D","-","-","-","-"]
["s4612","Male","chr10",61973213,61973213,"T","A","Het","Dmis","Maternal_inheritance","ANK3","nonsynonymous SNV","ANK3:NM_001204404:exon9:c.902A>T:p.E301V,ANK3:NM_001320874:exon9:c.953A>T:p.E318V,ANK3:NM_020987:exon9:c.953A>T:p.E318V,ANK3:NM_001204403:exon10:c.935A>T:p.E312V","ankyrin 3, node of Ranvier (ankyrin G)","-5.215169063 (0.0752489%)","1(0.1481%)","10q21.2","-","0.864:D","-","-","-","-"]
["s4615","Male","chr4",56823509,56823509,"T","G","Het","Dmis","Maternal_inheritance","CEP135","nonsynonymous SNV","CEP135:NM_025009:exon5:c.593T>G:p.L198R","centrosomal protein 135kDa","-0.199553409 (36.9993%)","4.85E-17(97.7833%)","4q12","rs374714305","0.857:D",{"v":2.06e-05,"d":"2.06E-05"},{"v":1E-4,"d":"1.00E-04"},{"v":3.23e-05,"d":"3.23E-05"},0]
["s4618","Male","chr16",4848631,4848631,"C","T","Het","Dmis","Maternal_inheritance","ROGDI","nonsynonymous SNV","ROGDI:NM_024589:exon7:c.470G>A:p.R157Q","rogdi homolog","0.578194712 (81.1704%)","3.13E-12(94.7874%)","16p13.3","rs780893164","0.858:D",{"v":3.25e-05,"d":"3.25E-05"},0,"-","-"]
["s4621","Male","chr21",47978253,47978253,"C","T","Het","Dmis","Maternal_inheritance","DIP2A","nonsynonymous SNV","DIP2A:NM_001146116:exon32:c.3904C>T:p.R1302C,DIP2A:NM_015151:exon32:c.3916C>T:p.R1306C","disco interacting protein 2 homolog A","-1.954202731 (2.11855%)","0.726099074(23.8134%)","21q22.3","rs770288948","0.924:D",{"v":4.72e-05,"d":"4.72E-05"},0,"-","-"]
["s5131","Female","chr11",11398842,11398842,"A","C","Het","Dmis","Maternal_inheritance","GALNT18","nonsynonymous SNV","GALNT18:NM_198516:exon5:c.864T>G:p.F288L","polypeptide N-acetylgalactosaminyltransferase 18","-1.072270209 (8.10952%)","0.047685176(47.2099%)","11p15.3","-","0.797:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["s5135","Male","chr7",107566762,107566762,"C","T","Het","Dmis","Maternal_inheritance","LAMB1","nonsynonymous SNV","LAMB1:NM_002291:exon32:c.4930G>A:p.A1644T","laminin subunit beta 1","-1.235752647 (6.17041%)","1.79E-06(81.4540%)","7q31.1","-","0.799:D","-","-",{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["s5138","Male","chr16",57789354,57789354,"G","A","Het","Dmis","Maternal_inheritance","KATNB1","nonsynonymous SNV","KATNB1:NM_005886:exon16:c.1514G>A:p.R505H","katanin p80 (WD repeat containing) subunit B 1","-0.969951674 (9.52767%)","0.496734037(30.0027%)","16q21","rs548452687","0.954:D",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
["s5159","Female","chr12",13761740,13761740,"C","T","Het","Dmis","Maternal_inheritance","GRIN2B","nonsynonymous SNV","GRIN2B:NM_000834:exon9:c.1807G>A:p.G603S","glutamate ionotropic receptor NMDA type subunit 2B","-2.476366832 (1.09979%)","0.999994896(2.1948%)","12p13.1","-","0.855:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
["s5195","Male","chr10",76735462,76735462,"T","C","Het","Dmis","Maternal_inheritance","KAT6B","nonsynonymous SNV","KAT6B:NM_001256468:exon8:c.1367T>C:p.I456T,KAT6B:NM_012330:exon8:c.1367T>C:p.I456T","lysine acetyltransferase 6B","-3.45154577 (0.468859%)","0.999999923(1.0370%)","10q22.2","rs766318986","0.772:D",{"v":3.66e-05,"d":"3.66E-05"},1E-4,"-","-"]
["s5195","Male","chr20",44676687,44676687,"C","T","Het","Dmis","Maternal_inheritance","SLC12A5","nonsynonymous SNV","SLC12A5:NM_001134771:exon16:c.2044C>T:p.R682C,SLC12A5:NM_020708:exon16:c.1975C>T:p.R659C","solute carrier family 12 member 5","-1.861874059 (2.36745%)","0.999987272(2.5953%)","20q13.12","-","0.934:D","-","-",{"v":3.24e-05,"d":"3.24E-05"},0]
["s5210","Male","chr16",1261205,1261205,"G","A","Het","Dmis","Maternal_inheritance","CACNA1H","nonsynonymous SNV","CACNA1H:NM_001005407:exon22:c.4261G>A:p.E1421K,CACNA1H:NM_021098:exon22:c.4261G>A:p.E1421K","calcium voltage-gated channel subunit alpha1 H","-0.405302435 (26.0998%)","0.755916976(22.9081%)","16p13.3","-","0.730:D","-","-","-","-"]
["s3224","Male","chr9",136219590,136219590,"G","A","Het","Dmis","Maternal_inheritance","SURF1","nonsynonymous SNV","SURF1:NM_001280787:exon5:c.220C>T:p.P74S,SURF1:NM_003172:exon6:c.547C>T:p.P183S","surfeit 1","-0.069732819 (45.6703%)","1.02E-13(96.0219%)","9q34.2","rs782765995","0.943:D",{"v":8.19e-06,"d":"8.19E-06"},1E-4,"-","-"]
["s3263","Female","chr1",202709907,202709907,"-","G","Het","PTV","Maternal_inheritance","KDM5B","frameshift insertion","KDM5B:NM_001347591:exon19:c.2843dupC:p.V949Sfs*71,KDM5B:NM_006618:exon20:c.2978dupC:p.V994Sfs*71,KDM5B:NM_001314042:exon21:c.3086dupC:p.V1030Sfs*71","lysine demethylase 5B","-2.302644968 (1.34869%)","5.09E-05(73.7723%)","1q32.1","-","-","-","-","-","-"]
["s3272","Female","chr1",97915756,97915756,"G","-","Het","PTV","Maternal_inheritance","DPYD","frameshift deletion","DPYD:NM_000110:exon14:c.1764delC:p.R589Efs*19","dihydropyrimidine dehydrogenase","0.56272734 (80.6437%)","4.19E-09(89.7284%)","1p21.3","-","-",{"v":4.07E-6,"d":"4.07E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["s3293","Female","chr16",2546268,2546268,"G","A","Het","Dmis","Maternal_inheritance","TBC1D24","nonsynonymous SNV","TBC1D24:NM_001199107:exon2:c.119G>A:p.R40H,TBC1D24:NM_020705:exon2:c.119G>A:p.R40H","TBC1 domain family member 24","-0.684709751 (15.9759%)","5.84E-07(83.4348%)","16p13.3","-","0.864:D",{"v":4.07E-6,"d":"4.07E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["s3582","Male","chr6",107955649,107955649,"C","T","Het","Dmis","Maternal_inheritance","SOBP","nonsynonymous SNV","SOBP:NM_018013:exon6:c.1601C>T:p.P534L","sine oculis binding protein homolog","-0.501790511 (21.7643%)","-","6q21","-","0.841:D","-","-","-","-"]
["s3588","Male","chr16",89357113,89357113,"C","G","Het","Dmis","Maternal_inheritance","ANKRD11","nonsynonymous SNV","ANKRD11:NM_001256183:exon6:c.521G>C:p.R174P,ANKRD11:NM_013275:exon6:c.521G>C:p.R174P,ANKRD11:NM_001256182:exon7:c.521G>C:p.R174P","ankyrin repeat domain 11","-3.128464338 (0.60778%)","0.999999822(1.1742%)","16q24.3","-","0.772:D","-","-","-","-"]
["s3588","Male","chr1",27874584,27874584,"G","C","Het","Dmis","Maternal_inheritance","AHDC1","nonsynonymous SNV","AHDC1:NM_001029882:exon6:c.4043C>G:p.S1348C","AT-hook DNA binding motif containing 1","-2.166626001 (1.58602%)","0.999431448(5.2675%)","1p36.11","-","0.889:D","-","-","-","-"]
["s3621","Male","chr6",44271920,44271920,"G","A","Het","PTV","Maternal_inheritance","AARS2","stopgain","AARS2:NM_020745:exon14:c.2005C>T:p.Q669X","alanyl-tRNA synthetase 2, mitochondrial","0.674883651 (84.0704%)","1.65E-07(85.4376%)","6p21.1","-","0.657:T","-","-","-","-"]
["s3861","Female","chr8",38103294,38103294,"C","T","Het","Dmis","Maternal_inheritance","DDHD2","nonsynonymous SNV","DDHD2:NM_001164232:exon8:c.883C>T:p.R295C,DDHD2:NM_015214:exon8:c.883C>T:p.R295C","DDHD domain containing 2","-0.552246151 (19.9467%)","3.10E-08(87.5281%)","8p11.23","rs747136432","0.829:D",{"v":1.22E-5,"d":"1.22E-05"},{"v":1E-4,"d":"1.00E-04"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["s3861","Female","chr11",11454279,11454279,"A","C","Het","Dmis","Maternal_inheritance","GALNT18","nonsynonymous SNV","GALNT18:NM_198516:exon3:c.484T>G:p.F162V","polypeptide N-acetylgalactosaminyltransferase 18","-1.072270209 (8.10952%)","0.047685176(47.2099%)","11p15.3","rs770545422","0.964:D",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
["s3870","Male","chr15",44889023,44889023,"A","C","Het","Dmis","Maternal_inheritance","SPG11","nonsynonymous SNV","SPG11:NM_001160227:exon24:c.4120T>G:p.F1374V,SPG11:NM_025137:exon24:c.4120T>G:p.F1374V","spastic paraplegia 11 (autosomal recessive)","-1.551577083 (3.66404%)","2.91E-22(99.0069%)","15q21.1","-","0.957:D","-","-","-","-"]
["s3870","Male","chr17",61345150,61345150,"G","A","Het","Dmis","Maternal_inheritance","TANC2","nonsynonymous SNV","TANC2:NM_025185:exon7:c.853G>A:p.E285K","tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2","-3.875664698 (0.318361%)","0.999999966(0.8999%)","17q23.3","-","0.767:D","-","-","-","-"]
["s3882","Female","chrX",70375180,70375180,"G","A","Het","Dmis","Maternal_inheritance","NLGN3","nonsynonymous SNV","NLGN3:NM_001166660:exon3:c.574G>A:p.V192I,NLGN3:NM_001321276:exon4:c.283G>A:p.V95I,NLGN3:NM_018977:exon4:c.634G>A:p.V212I,NLGN3:NM_181303:exon5:c.694G>A:p.V232I","neuroligin 3","-1.678519143 (3.02153%)","0.896227168(17.8711%)","Xq13.1","rs201424510","0.791:D",{"v":1.68e-05,"d":"1.68E-05"},0,"-","-"]
["s3909","Male","chr6",44273456,44273456,"C","T","Het","Dmis","Maternal_inheritance","AARS2","nonsynonymous SNV","AARS2:NM_020745:exon10:c.1368G>A:p.M456I","alanyl-tRNA synthetase 2, mitochondrial","0.674883651 (84.0704%)","1.65E-07(85.4376%)","6p21.1","-","0.821:D","-","-","-","-"]
["s3912","Male","chr3",41266898,41266898,"G","A","Het","Dmis","Maternal_inheritance","CTNNB1","nonsynonymous SNV","CTNNB1:NM_001098209:exon5:c.569G>A:p.R190H,CTNNB1:NM_001098210:exon5:c.569G>A:p.R190H,CTNNB1:NM_001904:exon5:c.569G>A:p.R190H,CTNNB1:NM_001330729:exon6:c.548G>A:p.R183H","catenin beta 1","-1.072890114 (8.10373%)","0.99981275(4.1975%)","3p22.1","-","0.783:D",{"v":8.15e-06,"d":"8.15E-06"},0,"-","-"]
["s4083","Male","chr15",43668399,43668399,"A","G","Het","Dmis","Maternal_inheritance","TUBGCP4","nonsynonymous SNV","TUBGCP4:NM_001286414:exon2:c.182A>G:p.Q61R,TUBGCP4:NM_014444:exon2:c.182A>G:p.Q61R","tubulin gamma complex associated protein 4","-0.604103408 (18.3028%)","0.005283482(57.8107%)","15q15.3","rs755297629","0.774:D",{"v":8.12e-06,"d":"8.12E-06"},1E-4,"-","-"]
["s4086","Male","chr17",73513678,73513678,"T","C","Het","Dmis","Maternal_inheritance","TSEN54","nonsynonymous SNV","TSEN54:NM_207346:exon5:c.410T>C:p.I137T","tRNA splicing endonuclease subunit 54","1.744697053 (97.3489%)","1.76E-05(76.5706%)","17q25.1","-","0.934:D","-","-","-","-"]
["s4098","Female","chr12",42854461,42854461,"G","A","Het","Dmis","Maternal_inheritance","PRICKLE1","nonsynonymous SNV","PRICKLE1:NM_001144881:exon8:c.1646C>T:p.S549L,PRICKLE1:NM_001144882:exon8:c.1646C>T:p.S549L,PRICKLE1:NM_001144883:exon8:c.1646C>T:p.S549L,PRICKLE1:NM_153026:exon8:c.1646C>T:p.S549L","prickle planar cell polarity protein 1","-0.738915353 (14.4362%)","0.991966859(9.3937%)","12q12","rs370892022","0.871:D",{"v":2.54e-05,"d":"2.54E-05"},{"v":5.81e-05,"d":"5.81E-05"},"-","-"]
["s4163","Female","chr8",18457906,18457906,"C","G","Het","Dmis","Maternal_inheritance","PSD3","nonsynonymous SNV","PSD3:NM_206909:exon9:c.847G>C:p.V283L,PSD3:NM_015310:exon12:c.2449G>C:p.V817L","pleckstrin and Sec7 domain containing 3","0.085515914 (56.3962%)","0.851705649(19.7970%)","8p22","rs773060217","0.789:D",{"v":1.26E-5,"d":"1.26E-05"},0,"-","-"]
["s4204","Female","chr11",66457350,66457350,"G","A","Het","Dmis","Maternal_inheritance","SPTBN2","nonsynonymous SNV","SPTBN2:NM_006946:exon28:c.5875C>T:p.R1959W","spectrin beta, non-erythrocytic 2","-3.346725582 (0.509377%)","0.999977957(2.8313%)","11q13.2","rs774111091","0.812:D",{"v":8.12e-06,"d":"8.12E-06"},0,"-","-"]
["s4204","Female","chr6",88240588,88240588,"G","A","Het","PTV","Maternal_inheritance","RARS2","stopgain","RARS2:NM_001350509:exon7:c.160C>T:p.R54X,RARS2:NM_001318785:exon8:c.160C>T:p.R54X,RARS2:NM_001350505:exon9:c.685C>T:p.R229X,RARS2:NM_001350506:exon9:c.160C>T:p.R54X,RARS2:NM_001350510:exon9:c.160C>T:p.R54X,RARS2:NM_020320:exon9:c.685C>T:p.R229X,RARS2:NM_001350507:exon10:c.160C>T:p.R54X,RARS2:NM_001350508:exon10:c.160C>T:p.R54X,RARS2:NM_001350511:exon10:c.160C>T:p.R54X","arginyl-tRNA synthetase 2, mitochondrial","0.042258271 (53.4209%)","3.49E-06(80.1920%)","6q15","rs769473411","0.542:T",{"v":8.12e-06,"d":"8.12E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["s4207","Female","chr14",53522574,53522574,"C","G","Het","Dmis","Maternal_inheritance","DDHD1","nonsynonymous SNV","DDHD1:NM_001160148:exon10:c.2049G>C:p.Q683H,DDHD1:NM_030637:exon10:c.2049G>C:p.Q683H,DDHD1:NM_001160147:exon11:c.2070G>C:p.Q690H","DDHD domain containing 1","-0.743446591 (14.3262%)","0.968458214(13.1303%)","14q22.1","-","0.737:D","-","-","-","-"]
["s4219","Female","chrX",53616605,53616605,"G","A","Het","Dmis","Maternal_inheritance","HUWE1","nonsynonymous SNV","HUWE1:NM_031407:exon36:c.4363C>T:p.P1455S","HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase","-7.584497199 (0.0231535%)","1(0.0988%)","Xp11.22","-","0.823:D","-","-","-","-"]
[5884,"Male","chr1",27088778,27088778,"A","G","Het","Dmis","Maternal_inheritance","ARID1A","nonsynonymous SNV","ARID1A:NM_006015:exon7:c.2387A>G:p.Y796C,ARID1A:NM_139135:exon7:c.2387A>G:p.Y796C","AT-rich interaction domain 1A","-3.169718989 (0.590414%)","0.999999997(0.6584%)","1p36.11","rs772620836","0.755:D",{"v":8.13e-06,"d":"8.13E-06"},0,"-","-"]
[4083,"Male","chr15",43668399,43668399,"A","G","Het","Dmis","Maternal_inheritance","TUBGCP4","nonsynonymous SNV","TUBGCP4:NM_001286414:exon2:c.182A>G:p.Q61R,TUBGCP4:NM_014444:exon2:c.182A>G:p.Q61R","tubulin gamma complex associated protein 4","-0.604103408 (18.3028%)","0.005283482(57.8107%)","15q15.3","rs755297629","0.774:D",{"v":8.12e-06,"d":"8.12E-06"},1E-4,"-","-"]
[4086,"Male","chr17",73513678,73513678,"T","C","Het","Dmis","Maternal_inheritance","TSEN54","nonsynonymous SNV","TSEN54:NM_207346:exon5:c.410T>C:p.I137T","tRNA splicing endonuclease subunit 54","1.744697053 (97.3489%)","1.76E-05(76.5706%)","17q25.1","-","0.934:D","-","-","-","-"]
[5927,"Male","chr14",68252676,68252676,"C","T","Het","Dmis","Maternal_inheritance","ZFYVE26","nonsynonymous SNV","ZFYVE26:NM_015346:exon18:c.3203G>A:p.C1068Y","zinc finger FYVE-type containing 26","-0.954662356 (9.78236%)","1.04E-11(94.1948%)","14q24.1","-","0.887:D","-","-","-","-"]
[5927,"Male","chr3",135913955,135913955,"T","C","Het","Dmis","Maternal_inheritance","MSL2","nonsynonymous SNV","MSL2:NM_018133:exon1:c.1A>G:p.M1V","male-specific lethal 2 homolog (Drosophila)","-0.718445538 (15.0093%)","0.889663742(18.1893%)","3q22.3","-","0.816:D","-","-","-","-"]
[6063,"Female","chr17",1629803,1629803,"G","T","Het","Dmis","Maternal_inheritance","WDR81","nonsynonymous SNV","WDR81:NM_001163809:exon1:c.1550G>T:p.W517L","WD repeat domain 81","-","1.26E-05(77.4266%)","17p13.3","-","0.896:D",0,0,"-","-"]
[5942,"Female","chr11",128839782,128839782,"G","A","Het","Dmis","Maternal_inheritance","ARHGAP32","nonsynonymous SNV","ARHGAP32:NM_014715:exon13:c.4237C>T:p.R1413W,ARHGAP32:NM_001142685:exon22:c.5284C>T:p.R1762W","Rho GTPase activating protein 32","-1.588685966 (3.44987%)","0.98708852(10.5350%)","11q24.3","rs747342727","0.843:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[5955,"Female","chr10",114925705,114925705,"-","CG","Het","PTV","Maternal_inheritance","TCF7L2","frameshift insertion","TCF7L2:NM_001146285:exon13:c.1714_1715insCG:p.L573Rfs*6,TCF7L2:NM_001198526:exon13:c.1714_1715insCG:p.L573Rfs*6,TCF7L2:NM_001146274:exon14:c.1783_1784insCG:p.L596Rfs*6,TCF7L2:NM_030756:exon14:c.1765_1766insCG:p.L590Rfs*6","transcription factor 7 like 2","-0.890122996 (11.0269%)","0.989605029(9.9753%)","10q25.3","-","-","-","-","-","-"]
[6006,"Male","chr5",125906516,125906516,"G","C","Het","Dmis","Maternal_inheritance","ALDH7A1","nonsynonymous SNV","ALDH7A1:NM_001182:exon8:c.731C>G:p.P244R,ALDH7A1:NM_001201377:exon8:c.647C>G:p.P216R,ALDH7A1:NM_001202404:exon8:c.731C>G:p.P244R","aldehyde dehydrogenase 7 family member A1","0.245476745 (66.2248%)","1.95E-12(94.9410%)","5q23.2","-","0.986:D","-","-","-","-"]
[6055,"Male","chr9",139995568,139995568,"A","G","Het","Dmis","Maternal_inheritance","MAN1B1","nonsynonymous SNV","MAN1B1:NM_016219:exon7:c.1028A>G:p.Y343C","mannosidase alpha class 1B member 1","-0.155810972 (39.5751%)","2.63E-06(80.6804%)","9q34.3","rs1038179177","0.820:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[5994,"Male","chr2",122165161,122165161,"C","T","Het","Dmis","Maternal_inheritance","CLASP1","nonsynonymous SNV","CLASP1:NM_001142274:exon25:c.2471G>A:p.R824Q,CLASP1:NM_001207051:exon25:c.2489G>A:p.R830Q,CLASP1:NM_015282:exon25:c.2555G>A:p.R852Q,CLASP1:NM_001142273:exon26:c.2495G>A:p.R832Q","cytoplasmic linker associated protein 1","-","0.999999989(0.7572%)","2q14.2","rs749291442","0.738:D",{"v":8.13e-06,"d":"8.13E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[6843,"Male","chr5",14508455,14508455,"G","A","Het","Dmis","Maternal_inheritance","TRIO","nonsynonymous SNV","TRIO:NM_007118:exon57:c.9218G>A:p.R3073H","trio Rho guanine nucleotide exchange factor","-4.532800748 (0.150498%)","1(0.1536%)","5p15.2","-","0.890:D","-","-","-","-"]
[6798,"Male","chr1",27874341,27874341,"A","G","Het","Dmis","Maternal_inheritance","AHDC1","nonsynonymous SNV","AHDC1:NM_001029882:exon6:c.4286T>C:p.L1429P","AT-hook DNA binding motif containing 1","-2.166626001 (1.58602%)","0.999431448(5.2675%)","1p36.11","-","0.837:D","-","-","-","-"]
[6702,"Male","chr1",204380250,204380250,"A","G","Het","Dmis","Maternal_inheritance","PPP1R15B","nonsynonymous SNV","PPP1R15B:NM_032833:exon1:c.290T>C:p.L97P","protein phosphatase 1 regulatory subunit 15B","-0.335596134 (29.5265%)","0.161223928(40.0768%)","1q32.1","rs775162439","0.779:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
[6741,"Male","chr1",42045517,42045517,"A","C","Het","Dmis","Maternal_inheritance","HIVEP3","nonsynonymous SNV","HIVEP3:NM_001127714:exon3:c.4952T>G:p.L1651R,HIVEP3:NM_024503:exon4:c.4952T>G:p.L1651R","human immunodeficiency virus type I enhancer binding protein 3","0.715684558 (85.2628%)","0.030810602(49.4486%)","1p34.2","-","0.934:D","-","-","-","-"]
[7108,"Male","chr10",61833605,61833605,"A","C","Het","Dmis","Maternal_inheritance","ANK3","nonsynonymous SNV","ANK3:NM_020987:exon37:c.7034T>G:p.V2345G","ankyrin 3, node of Ranvier (ankyrin G)","-5.215169063 (0.0752489%)","1(0.1481%)","10q21.2","-","0.918:D","-","-","-","-"]
[7108,"Male","chr17",76540050,76540050,"-","A","Het","PTV","Maternal_inheritance","DNAH17","frameshift insertion","DNAH17:NM_173628:exon17:c.2420_2421insT:p.R807Sfs*4","dynein axonemal heavy chain 17","-","-","17q25.3","rs752654299","-",{"v":8.12e-06,"d":"8.12E-06"},1E-4,"-","-"]
[7264,"Male","chr5",37026373,37026373,"A","G","Het","Dmis","Maternal_inheritance","NIPBL","nonsynonymous SNV","NIPBL:NM_015384:exon31:c.5752A>G:p.T1918A,NIPBL:NM_133433:exon31:c.5752A>G:p.T1918A","Nipped-B homolog (Drosophila)","-3.654253101 (0.405186%)","1(0.0055%)","5p13.2","rs199639172","0.735:D",{"v":1.63E-5,"d":"1.63E-05"},0,"-","-"]
[7282,"Male","chr14",68264987,68264987,"G","-","Het","PTV","Maternal_inheritance","ZFYVE26","frameshift deletion","ZFYVE26:NM_015346:exon11:c.1992delC:p.L666Wfs*2","zinc finger FYVE-type containing 26","-0.954662356 (9.78236%)","1.04E-11(94.1948%)","14q24.1","-","-","-","-","-","-"]
[7282,"Male","chr5",235330,235330,"G","A","Het","Dmis","Maternal_inheritance","SDHA","nonsynonymous SNV","SDHA:NM_001294332:exon8:c.992G>A:p.R331H,SDHA:NM_001330758:exon9:c.1136G>A:p.R379H,SDHA:NM_004168:exon9:c.1136G>A:p.R379H","succinate dehydrogenase complex flavoprotein subunit A","-0.651593635 (16.821%)","9.39E-06(78.1674%)","5p15.33","rs770719847","0.871:D",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
[7288,"Male","chr22",41553273,41553273,"T","C","Het","Dmis","Maternal_inheritance","EP300","nonsynonymous SNV","EP300:NM_001429:exon18:c.3362T>C:p.I1121T","E1A binding protein p300","-4.105042369 (0.237323%)","1(0.2085%)","22q13.2","rs775528334","0.848:D",{"v":8.12e-06,"d":"8.12E-06"},1E-4,"-","-"]
[7123,"Male","chr9",133942470,133942470,"G","A","Het","Dmis","Maternal_inheritance","LAMC3","nonsynonymous SNV","LAMC3:NM_006059:exon14:c.2471G>A:p.C824Y","laminin subunit gamma 3","2.420983809 (99.016%)","9.82E-11(92.8999%)","9q34.12","-","0.998:D","-","-","-","-"]
[7418,"Male","chr4",85603595,85603595,"G","T","Het","Dmis","Maternal_inheritance","WDFY3","nonsynonymous SNV","WDFY3:NM_014991:exon64:c.9755C>A:p.P3252H","WD repeat and FYVE domain containing 3","-5.034619678 (0.0984024%)","1(0.0055%)","4q21.23","-","0.760:D","-","-","-","-"]
[7435,"Male","chr3",123008792,123008792,"C","T","Het","Dmis","Maternal_inheritance","ADCY5","nonsynonymous SNV","ADCY5:NM_001199642:exon19:c.2287G>A:p.E763K,ADCY5:NM_183357:exon19:c.3337G>A:p.E1113K","adenylate cyclase 5","-2.187243441 (1.5455%)","0.989940592(9.9150%)","3q21.1","rs749774208","0.933:D",{"v":1.63E-5,"d":"1.63E-05"},1E-4,"-","-"]
[7445,"Female","chr16",56374810,56374810,"C","T","Het","Dmis","Maternal_inheritance","GNAO1","nonsynonymous SNV","GNAO1:NM_138736:exon7:c.788C>T:p.T263M","G protein subunit alpha o1","-0.935109664 (10.0891%)","0.984288177(11.0178%)","16q12.2","rs761819608","0.960:D",{"v":1.62e-05,"d":"1.62E-05"},0,"-","-"]
[7498,"Male","chr15",51223150,51223150,"T","G","Het","Dmis","Maternal_inheritance","AP4E1","nonsynonymous SNV","AP4E1:NM_001252127:exon7:c.626T>G:p.L209R,AP4E1:NM_007347:exon7:c.851T>G:p.L284R","adaptor related protein complex 4 epsilon 1 subunit","0.152687122 (61.0095%)","0.979862099(11.7092%)","15q21.2","-","0.967:D","-","-","-","-"]
[7510,"Female","chr8",61749419,61749419,"C","T","Het","Dmis","Maternal_inheritance","CHD7","nonsynonymous SNV","CHD7:NM_017780:exon17:c.4033C>T:p.R1345C","chromodomain helicase DNA binding protein 7","-2.248811659 (1.42973%)","1(0.1920%)","8q12.2","-","0.994:D","-","-","-","-"]
[7510,"Female","chr2",239988510,239988510,"C","T","Het","Dmis","Maternal_inheritance","HDAC4","nonsynonymous SNV","HDAC4:NM_006037:exon24:c.2896G>A:p.G966S","histone deacetylase 4","-1.031237968 (8.62468%)","0.999989727(2.5075%)","2q37.3","rs746169536","0.950:D",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
[7510,"Female","chr21",47970463,47970463,"A","G","Het","Dmis","Maternal_inheritance","DIP2A","nonsynonymous SNV","DIP2A:NM_001146116:exon23:c.2633A>G:p.D878G,DIP2A:NM_015151:exon23:c.2645A>G:p.D882G","disco interacting protein 2 homolog A","-1.954202731 (2.11855%)","0.726099074(23.8134%)","21q22.3","-","0.891:D",{"v":4.13e-06,"d":"4.13E-06"},{"v":5.82e-05,"d":"5.82E-05"},"-","-"]
[7527,"Male","chr15",40944214,40944214,"G","T","Het","Dmis","Maternal_inheritance","KNL1","nonsynonymous SNV","KNL1:NM_144508:exon21:c.6326G>T:p.W2109L,KNL1:NM_170589:exon22:c.6404G>T:p.W2135L","-","-","-","15q15.1","-","0.755:D","-","-","-","-"]
[7534,"Female","chr16",89715863,89715863,"C","T","Het","Dmis","Maternal_inheritance","CHMP1A","nonsynonymous SNV","CHMP1A:NM_001083314:exon3:c.128G>A:p.R43Q,CHMP1A:NM_002768:exon4:c.148G>A:p.E50K","charged multivesicular body protein 1A","0.518060943 (78.9303%)","0.252036809(36.9931%)","16q24.3","rs1038735906","0.800:D","-","-","-","-"]
[7550,"Female","chr8",65528705,65528705,"-","T","Het","PTV","Maternal_inheritance","CYP7B1","frameshift insertion","CYP7B1:NM_001324112:exon3:c.392dupA:p.N131Kfs*2,CYP7B1:NM_004820:exon3:c.392dupA:p.N131fs*0","cytochrome P450 family 7 subfamily B member 1","-1.011184923 (8.89095%)","2.14E-06(81.1413%)","8q12.3","rs758777120","-",{"v":2.44E-5,"d":"2.44E-05"},0,"-","-"]
[7550,"Female","chr7",107601715,107601715,"A","C","Het","Dmis","Maternal_inheritance","LAMB1","nonsynonymous SNV","LAMB1:NM_002291:exon17:c.2045T>G:p.L682W","laminin subunit beta 1","-1.235752647 (6.17041%)","1.79E-06(81.4540%)","7q31.1","-","0.895:D","-","-","-","-"]
[7553,"Male","chr11",126310360,126310360,"G","A","Het","Dmis","Maternal_inheritance","KIRREL3","nonsynonymous SNV","KIRREL3:NM_001161707:exon11:c.1337C>T:p.P446L,KIRREL3:NM_001301097:exon11:c.1337C>T:p.P446L,KIRREL3:NM_032531:exon11:c.1337C>T:p.P446L","kin of IRRE like 3 (Drosophila)","-0.701267867 (15.4897%)","0.977505781(12.0933%)","11q24.2","rs760499655","0.905:D",{"v":5.12e-06,"d":"5.12E-06"},0,"-","-"]
[7553,"Male","chr6",24533861,24533861,"C","T","Het","Dmis","Maternal_inheritance","ALDH5A1","nonsynonymous SNV","ALDH5A1:NM_001080:exon10:c.1529C>T:p.S510F,ALDH5A1:NM_170740:exon11:c.1568C>T:p.S523F","aldehyde dehydrogenase 5 family member A1","0.362161292 (72.2505%)","0.002904262(60.4335%)","6p22.3","rs578023593","0.993:D","-","-","-","-"]
[7565,"Male","chr7",104703954,104703954,"G","A","Het","Dmis","Maternal_inheritance","KMT2E","nonsynonymous SNV","KMT2E:NM_018682:exon4:c.343G>A:p.G115S,KMT2E:NM_182931:exon5:c.343G>A:p.G115S","lysine methyltransferase 2E","-3.121618628 (0.613568%)","0.999999995(0.6859%)","7q22.3","-","0.722:D",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
[7608,"Male","chr2",183888619,183888619,"G","A","Het","Dmis","Maternal_inheritance","NCKAP1","nonsynonymous SNV","NCKAP1:NM_013436:exon2:c.134C>T:p.P45L,NCKAP1:NM_205842:exon3:c.152C>T:p.P51L","NCK associated protein 1","-1.880614062 (2.30377%)","0.999999991(0.7407%)","2q32.1","-","0.944:D","-","-","-","-"]
[7936,"Female","chr12",109972445,109972445,"G","A","Het","Dmis","Maternal_inheritance","UBE3B","nonsynonymous SNV","UBE3B:NM_130466:exon28:c.3065G>A:p.R1022H,UBE3B:NM_183415:exon28:c.3065G>A:p.R1022H","ubiquitin protein ligase E3B","-2.422919179 (1.16925%)","0.009387706(55.1605%)","12q24.11","rs768340824","0.784:D",{"v":1.64e-05,"d":"1.64E-05"},0,1E-4,0.0006]
[7888,"Female","chr9",738321,738322,"CG","-","Het","PTV","Maternal_inheritance","KANK1","frameshift deletion","KANK1:NM_153186:exon7:c.2896_2897del:p.S968Qfs*17,KANK1:NM_015158:exon8:c.3370_3371del:p.S1126Qfs*17,KANK1:NM_001256877:exon9:c.3370_3371del:p.S1126Qfs*17,KANK1:NM_001256876:exon12:c.3370_3371del:p.S1126Qfs*17","KN motif and ankyrin repeat domains 1","-0.117437522 (42.1104%)","-","9p24.3","-","-","-","-","-","-"]
[7930,"Male","chr15",49031087,49031088,"AG","-","Het","PTV","Maternal_inheritance","CEP152","frameshift deletion","CEP152:NM_014985:exon26:c.4323_4324del:p.F1442Sfs*6,CEP152:NM_001194998:exon27:c.4491_4492del:p.F1498Sfs*6","centrosomal protein 152kDa","0.67913999 (84.1804%)","4.42E-21(98.8477%)","15q21.1","-","-","-","-","-","-"]
[5147,"Male","chr15",63932640,63932640,"T","G","Het","Dmis","Maternal_inheritance","HERC1","nonsynonymous SNV","HERC1:NM_003922:exon61:c.11612A>C:p.H3871P","HECT and RLD domain containing E3 ubiquitin protein ligase family member 1","-6.429196083 (0.0578838%)","1(0.2359%)","15q22.31","rs747168477","0.819:D",{"v":4.09e-06,"d":"4.09E-06"},{"v":5.81e-05,"d":"5.81E-05"},"-","-"]
[6078,"Female","chr20",62044825,62044825,"G","A","Het","PTV","Maternal_inheritance","KCNQ2","stopgain","KCNQ2:NM_004518:exon13:c.1657C>T:p.R553X,KCNQ2:NM_172106:exon14:c.1687C>T:p.R563X,KCNQ2:NM_172108:exon14:c.1648C>T:p.R550X,KCNQ2:NM_172107:exon15:c.1741C>T:p.R581X","potassium voltage-gated channel subfamily Q member 2","-1.249109188 (5.96782%)","0.999356099(5.3937%)","20q13.33","rs118192236","0.636:T","-","-","-","-"]
[6120,"Male","chr17",76440819,76440819,"G","A","Het","Dmis","Maternal_inheritance","DNAH17","nonsynonymous SNV","DNAH17:NM_173628:exon71:c.11395C>T:p.R3799C","dynein axonemal heavy chain 17","-","-","17q25.3","rs779259373","0.765:D",{"v":4.22e-06,"d":"4.22E-06"},{"v":6.18e-05,"d":"6.18E-05"},"-","-"]
[6123,"Male","chr16",18805929,18805929,"T","G","Het","Dmis","Maternal_inheritance","ARL6IP1","nonsynonymous SNV","ARL6IP1:NM_001313858:exon5:c.398A>C:p.Y133S,ARL6IP1:NM_015161:exon5:c.485A>C:p.Y162S","ADP ribosylation factor like GTPase 6 interacting protein 1","-0.132835322 (41.0859%)","0.006675689(56.7517%)","16p12.3","-","0.844:D","-","-","-","-"]
[6135,"Male","chr1",175372618,175372618,"C","G","Het","Dmis","Maternal_inheritance","TNR","nonsynonymous SNV","TNR:NM_003285:exon4:c.634G>C:p.G212R","tenascin R","-0.089910353 (44.148%)","0.987762732(10.4088%)","1q25.1","rs756376410","0.902:D",{"v":8.12e-06,"d":"8.12E-06"},{"v":1E-4,"d":"1.00E-04"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
[6303,"Male","chr3",48460742,48460742,"A","G","Het","Dmis","Maternal_inheritance","PLXNB1","nonsynonymous SNV","PLXNB1:NM_001130082:exon12:c.2743T>C:p.C915R,PLXNB1:NM_002673:exon12:c.2743T>C:p.C915R","plexin B1","-0.517678516 (21.0755%)","0.850195108(19.8464%)","3p21.31","-","0.841:D","-","-","-","-"]
[6393,"Male","chr10",89692827,89692827,"T","C","Het","Dmis","Maternal_inheritance","PTEN","nonsynonymous SNV","PTEN:NM_000314:exon5:c.311T>C:p.F104S,PTEN:NM_001304717:exon6:c.830T>C:p.F277S","phosphatase and tensin homolog","-0.161420196 (39.222%)","0.975506866(12.3237%)","10q23.31","-","0.999:D","-","-","-","-"]
[6666,"Male","chr5",1403195,1403195,"C","T","Het","Dmis","Maternal_inheritance","SLC6A3","nonsynonymous SNV","SLC6A3:NM_001044:exon13:c.1609G>A:p.V537M","solute carrier family 6 member 3","-0.860754331 (11.5883%)","0.997036902(7.4678%)","5p15.33","rs770121366","0.789:D",{"v":8.18e-06,"d":"8.18E-06"},0,"-","-"]
[6666,"Male","chr7",99707675,99707675,"G","A","Het","Dmis","Maternal_inheritance","TAF6","nonsynonymous SNV","TAF6:NM_001190415:exon12:c.1291C>T:p.P431S,TAF6:NM_005641:exon12:c.1180C>T:p.P394S,TAF6:NM_139315:exon12:c.1180C>T:p.P394S","TATA-box binding protein associated factor 6","-1.270984505 (5.73049%)","0.000674165(66.0521%)","7q22.1","-","0.951:D","-","-","-","-"]
[6681,"Female","chr1",42041216,42041216,"C","T","Het","Dmis","Maternal_inheritance","HIVEP3","nonsynonymous SNV;potential splicing","HIVEP3:NM_001127714:exon4:c.5206G>A:p.G1736R,HIVEP3:NM_024503:exon5:c.5206G>A:p.G1736R","-","-","0.030810602(49.4486%)","1p34.2","-","0.851:D","-","-","-","-"]
[6681,"Female","chr11",124793715,124793715,"C","T","Het","Dmis","Maternal_inheritance","HEPACAM","nonsynonymous SNV","HEPACAM:NM_152722:exon3:c.619G>A:p.V207M","hepatic and glial cell adhesion molecule","-0.102065654 (43.2334%)","0.630644861(26.5734%)","11q24.2","rs201870421","0.791:D",{"v":2.03e-05,"d":"2.03E-05"},0,"-","-"]
[6586,"Male","chr13",100982862,100982862,"C","T","Het","Dmis","Maternal_inheritance","PCCA","nonsynonymous SNV","PCCA:NM_001127692:exon16:c.1399C>T:p.R467C,PCCA:NM_000282:exon17:c.1477C>T:p.R493C,PCCA:NM_001178004:exon17:c.1477C>T:p.R493C","propionyl-CoA carboxylase alpha subunit","-0.84576154 (11.8835%)","2.13E-10(92.3512%)","13q32.3","rs753955254","0.853:D",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
[6663,"Male","chr18",67806926,67806926,"G","T","Het","PTV","Maternal_inheritance","RTTN","stopgain","RTTN:NM_173630:exon21:c.2697C>A:p.C899X","rotatin","-1.326317594 (5.23269%)","2.40E-13(95.7586%)","18q22.2","-","0.003:T","-","-","-","-"]
[6699,"Male","chr3",121980729,121980729,"A","T","Het","Dmis","Maternal_inheritance","CASR","nonsynonymous SNV","CASR:NM_000388:exon4:c.847A>T:p.I283F,CASR:NM_001178065:exon4:c.847A>T:p.I283F","calcium sensing receptor","-1.640642576 (3.19518%)","0.366508674(33.6955%)","3q21.1","-","0.857:D","-","-","-","-"]
[6574,"Male","chr16",74750470,74750470,"A","T","Het","Dmis","Maternal_inheritance","FA2H","nonsynonymous SNV","FA2H:NM_024306:exon6:c.814T>A:p.F272I","fatty acid 2-hydroxylase","-0.270606697 (32.9185%)","0.726409724(23.8025%)","16q23.1","rs775735494","0.934:D",{"v":5.08e-06,"d":"5.08E-06"},0,"-","-"]
[6577,"Male","chr12",106838342,106838342,"A","G","Het","Dmis","Maternal_inheritance","POLR3B","nonsynonymous SNV","POLR3B:NM_001160708:exon19:c.1883A>G:p.Q628R,POLR3B:NM_018082:exon19:c.2057A>G:p.Q686R","polymerase (RNA) III subunit B","-1.672979324 (3.05047%)","2.73E-09(90.1893%)","12q23.3","-","0.967:D","-","-","-","-"]
["8546_TKD180402508-AK3182","Female","chr14",102461399,102461399,"C","G","Het","PTV","Maternal_inheritance","DYNC1H1","stopgain","DYNC1H1:NM_001376:exon14:c.3410C>G:p.S1137X","dynein cytoplasmic 1 heavy chain 1","-8.604274631 (0.0115768%)","1(0.0055%)","14q32.31","-","0.697:T","-","-","-","-"]
["8555_TKD180402508-AK3185","Female","chr8",141461307,141461307,"G","A","Het","Dmis","Maternal_inheritance","TRAPPC9","nonsynonymous SNV","TRAPPC9:NM_001160372:exon2:c.166C>T:p.R56C,TRAPPC9:NM_001321646:exon2:c.166C>T:p.R56C,TRAPPC9:NM_031466:exon2:c.460C>T:p.R154C","trafficking protein particle complex 9","-0.329836902 (29.8217%)","5.76E-06(79.2209%)","8q24.3","rs1006238101","0.952:D",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
["8561_TKD180402508-AK3187","Male","chr6",79655804,79655804,"G","-","Het","PTV","Maternal_inheritance","PHIP","frameshift deletion","PHIP:NM_017934:exon38:c.4544delC:p.P1515Qfs*30","pleckstrin homology domain interacting protein","-2.790384398 (0.827738%)","0.999999948(0.9492%)","6q14.1","rs767514976","-",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
["8588_TKD180402508-AK3196","Female","chr8",126059503,126059503,"G","C","Het","Dmis","Maternal_inheritance","WASHC5","nonsynonymous SNV","WASHC5:NM_001330609:exon19:c.2006C>G:p.S669C,WASHC5:NM_014846:exon20:c.2450C>G:p.S817C","-","-","-","8q24.13","rs764254285","0.934:D",{"v":8.13e-06,"d":"8.13E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["8612_TKD180402508-AK3203","Male","chr16",89619400,89619400,"C","T","Het","Dmis","Maternal_inheritance","SPG7","nonsynonymous SNV","SPG7:NM_003119:exon14:c.1793C>T:p.P598L","SPG7, paraplegin matrix AAA peptidase subunit","-0.909998092 (10.6043%)","1.38E-18(98.2826%)","16q24.3","-","0.965:D","-","-","-","-"]
["8618_TKD180402508-AK3484","Male","chr1",40431535,40431535,"C","T","Het","Dmis","Maternal_inheritance","MFSD2A","nonsynonymous SNV","MFSD2A:NM_001287808:exon4:c.95C>T:p.T32I,MFSD2A:NM_001136493:exon6:c.602C>T:p.T201I,MFSD2A:NM_001287809:exon6:c.452C>T:p.T151I,MFSD2A:NM_001349821:exon6:c.557C>T:p.T186I,MFSD2A:NM_001349822:exon6:c.563C>T:p.T188I,MFSD2A:NM_001349823:exon6:c.218C>T:p.T73I,MFSD2A:NM_032793:exon6:c.563C>T:p.T188I","major facilitator superfamily domain containing 2A","-0.512253979 (21.2781%)","0.91767122(16.7846%)","1p34.2","rs116276965","0.964:D",{"v":4.07E-6,"d":"4.07E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["8664_TKD180402508-AK3160","Male","chr7",103276883,103276883,"T","G","Het","Dmis","Maternal_inheritance","RELN","nonsynonymous SNV","RELN:NM_005045:exon18:c.2102A>C:p.E701A,RELN:NM_173054:exon18:c.2102A>C:p.E701A","reelin","-1.431203386 (4.36444%)","1(0.0823%)","7q22.1","-","0.835:D","-","-","-","-"]
[8845,"Male","chr14",21871209,21871209,"A","C","Het","Dmis","Maternal_inheritance","CHD8","nonsynonymous SNV","CHD8:NM_001170629:exon17:c.3681T>G:p.F1227L,CHD8:NM_020920:exon18:c.2844T>G:p.F948L","chromodomain helicase DNA binding protein 8","-2.361431018 (1.25029%)","1(0.2469%)","14q11.2","-","0.940:D","-","-","-","-"]
[8734,"Male","chr15",63986541,63986541,"C","T","Het","Dmis","Maternal_inheritance","HERC1","nonsynonymous SNV","HERC1:NM_003922:exon29:c.5450G>A:p.R1817K","HECT and RLD domain containing E3 ubiquitin protein ligase family member 1","-6.429196083 (0.0578838%)","1(0.2359%)","15q22.31","-","0.739:D","-","-","-","-"]
[9237,"Male","chr3",123022969,123022969,"G","A","Het","Dmis","Maternal_inheritance","ADCY5","nonsynonymous SNV","ADCY5:NM_001199642:exon13:c.1454C>T:p.T485I,ADCY5:NM_183357:exon13:c.2504C>T:p.T835I","adenylate cyclase 5","-2.187243441 (1.5455%)","0.989940592(9.9150%)","3q21.1","-","0.831:D","-","-","-","-"]
[9265,"Female","chr3",20153173,20153173,"C","T","Het","Dmis","Maternal_inheritance","KAT2B","nonsynonymous SNV","KAT2B:NM_003884:exon6:c.937C>T:p.R313C","lysine acetyltransferase 2B","-0.514599937 (21.1797%)","0.998926901(5.9424%)","3p24.3","rs750427240","0.914:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.81e-05,"d":"5.81E-05"},"-","-"]
[9281,"Female","chr19",6501384,6501384,"A","T","Het","Dmis","Maternal_inheritance","TUBB4A","nonsynonymous SNV","TUBB4A:NM_006087:exon3:c.191T>A:p.V64E,TUBB4A:NM_001289123:exon4:c.344T>A:p.V115E,TUBB4A:NM_001289127:exon4:c.326T>A:p.V109E,TUBB4A:NM_001289129:exon4:c.191T>A:p.V64E","tubulin beta 4A class IVa","-0.803423106 (12.8676%)","0.003055663(60.2250%)","19p13.3","-","0.921:D","-","-","-","-"]
[9287,"Female","chr19",9449975,9449975,"-","T","Het","PTV","Maternal_inheritance","ZNF559","stopgain","ZNF559:NM_001202406:exon4:c.333dupT:p.K112fs*0,ZNF559:NM_001202407:exon4:c.15dupT:p.K6fs*0,ZNF559:NM_001202408:exon4:c.333dupT:p.K112fs*0,ZNF559:NM_001202409:exon5:c.225dupT:p.K76fs*0,ZNF559:NM_001202410:exon5:c.141dupT:p.K48fs*0,ZNF559:NM_001202411:exon5:c.141dupT:p.K48fs*0,ZNF559:NM_001202412:exon5:c.141dupT:p.K48fs*0,ZNF559:NM_032497:exon5:c.141dupT:p.K48fs*0","zinc finger protein 559","1.572200403 (96.6022%)","7.72E-09(89.1852%)","19p13.2","-","-","-","-","-","-"]
[9287,"Female","chr4",100480426,100480426,"C","-","Het","PTV","Maternal_inheritance","TRMT10A","frameshift deletion","TRMT10A:NM_001134665:exon2:c.70delG:p.D24Ifs*9,TRMT10A:NM_001134666:exon2:c.70delG:p.D24Ifs*9,TRMT10A:NM_152292:exon2:c.70delG:p.D24Ifs*9","tRNA methyltransferase 10A","0.075535263 (55.6958%)","2.84E-05(75.2757%)","4q23","-","-","-","-","-","-"]
[9299,"Male","chr11",71146621,71146621,"C","T","Het","Dmis","Maternal_inheritance","DHCR7","nonsynonymous SNV","DHCR7:NM_001163817:exon9:c.1228G>A:p.G410S,DHCR7:NM_001360:exon9:c.1228G>A:p.G410S","7-dehydrocholesterol reductase","1.480335588 (96.0755%)","5.04E-08(86.9026%)","11q13.4","rs80338862","0.998:D",{"v":7.44e-05,"d":"7.44E-05"},0,"-","-"]
[9320,"Male","chr2",239988516,239988516,"C","A","Het","Dmis","Maternal_inheritance","HDAC4","nonsynonymous SNV","HDAC4:NM_006037:exon24:c.2890G>T:p.A964S","histone deacetylase 4","-1.031237968 (8.62468%)","0.999989727(2.5075%)","2q37.3","-","0.802:D","-","-","-","-"]
[9320,"Male","chr6",86223823,86223823,"T","C","Het","Dmis","Maternal_inheritance","SNX14","nonsynonymous SNV","SNX14:NM_020468:exon22:c.2363A>G:p.E788G,SNX14:NM_001350536:exon23:c.2390A>G:p.E797G,SNX14:NM_001350537:exon23:c.2387A>G:p.E796G,SNX14:NM_001350542:exon23:c.2234A>G:p.E745G,SNX14:NM_001350543:exon23:c.2231A>G:p.E744G,SNX14:NM_001350548:exon23:c.1367A>G:p.E456G,SNX14:NM_001297614:exon24:c.2495A>G:p.E832G,SNX14:NM_001350534:exon24:c.2492A>G:p.E831G,SNX14:NM_001350545:exon24:c.2078A>G:p.E693G,SNX14:NM_001350546:exon24:c.2078A>G:p.E693G,SNX14:NM_001350547:exon24:c.1472A>G:p.E491G,SNX14:NM_001350551:exon24:c.1367A>G:p.E456G,SNX14:NM_001350553:exon24:c.1340A>G:p.E447G,SNX14:NM_001304479:exon25:c.2366A>G:p.E789G,SNX14:NM_001350533:exon25:c.2519A>G:p.E840G,SNX14:NM_001350535:exon25:c.2519A>G:p.E840G,SNX14:NM_001350538:exon25:c.2378A>G:p.E793G,SNX14:NM_001350539:exon25:c.2363A>G:p.E788G,SNX14:NM_001350544:exon25:c.2222A>G:p.E741G,SNX14:NM_001350549:exon25:c.1367A>G:p.E456G,SNX14:NM_001350550:exon25:c.1367A>G:p.E456G,SNX14:NM_001350552:exon25:c.1367A>G:p.E456G,SNX14:NM_153816:exon25:c.2522A>G:p.E841G,SNX14:NM_001350532:exon26:c.2585A>G:p.E862G","sorting nexin 14","-0.66893469 (16.3232%)","6.80E-10(91.3525%)","6q14.3","-","0.853:D","-","-","-","-"]
[9326,"Male","chr17",76510915,76510915,"C","T","Het","Dmis","Maternal_inheritance","DNAH17","nonsynonymous SNV","DNAH17:NM_173628:exon26:c.4054G>A:p.E1352K","dynein axonemal heavy chain 17","-","-","17q25.3","-","0.744:D","-","-","-","-"]
[9338,"Female","chr16",9857044,9857044,"C","A","Het","Dmis","Maternal_inheritance","GRIN2A","nonsynonymous SNV","GRIN2A:NM_001134407:exon13:c.4357G>T:p.V1453L,GRIN2A:NM_000833:exon14:c.4357G>T:p.V1453L","glutamate ionotropic receptor NMDA type subunit 2A","-2.397509766 (1.18662%)","0.998044808(6.8532%)","16p13.2","rs201707833","0.701:D",{"v":4.07E-6,"d":"4.07E-06"},{"v":5.81e-05,"d":"5.81E-05"},"-","-"]
[9350,"Female","chr20",19937368,19937368,"C","T","Het","Dmis","Maternal_inheritance","RIN2","nonsynonymous SNV","RIN2:NM_018993:exon3:c.268C>T:p.L90F,RIN2:NM_001242581:exon4:c.415C>T:p.L139F","Ras and Rab interactor 2","1.634546223 (96.9611%)","0.008295585(55.6598%)","20p11.23","-","0.770:D","-","-","-","-"]
[9362,"Male","chr3",184079217,184079217,"G","T","Het","PTV","Maternal_inheritance","CLCN2","stopgain","CLCN2:NM_001171087:exon1:c.51C>A:p.Y17X,CLCN2:NM_001171088:exon1:c.51C>A:p.Y17X,CLCN2:NM_001171089:exon1:c.51C>A:p.Y17X,CLCN2:NM_004366:exon1:c.51C>A:p.Y17X","chloride voltage-gated channel 2","-0.100206955 (43.3723%)","2.27E-07(84.9547%)","3q27.1","-","0.359:T","-","-","-","-"]
[9396,"Male","chr20",62050993,62050993,"C","T","Het","Dmis","Maternal_inheritance","KCNQ2","nonsynonymous SNV","KCNQ2:NM_172107:exon12:c.1280G>A:p.G427E","potassium voltage-gated channel subfamily Q member 2","-1.249109188 (5.96782%)","0.999356099(5.3937%)","20q13.33","-","0.881:D","-","-","-","-"]
[9396,"Male","chr1",98060659,98060659,"G","A","Het","Dmis","Maternal_inheritance","DPYD","nonsynonymous SNV","DPYD:NM_000110:exon9:c.914C>T:p.T305I","dihydropyrimidine dehydrogenase","0.56272734 (80.6437%)","4.19E-09(89.7284%)","1p21.3","-","0.820:D","-","-","-","-"]
[9409,"Female","chr5",65344582,65344582,"G","T","Het","Dmis","Maternal_inheritance","ERBIN","nonsynonymous SNV","ERBIN:NM_001006600:exon19:c.1876G>T:p.V626F,ERBIN:NM_001253697:exon19:c.1876G>T:p.V626F,ERBIN:NM_001253698:exon19:c.1876G>T:p.V626F,ERBIN:NM_001253699:exon19:c.1876G>T:p.V626F,ERBIN:NM_001253701:exon19:c.1864G>T:p.V622F,ERBIN:NM_018695:exon19:c.1876G>T:p.V626F","erbb2 interacting protein","-","-","5q12.3","-","0.833:D","-","-","-","-"]
[9415,"Male","chr13",37580280,37580280,"T","C","Het","Dmis","Maternal_inheritance","EXOSC8","nonsynonymous SNV","EXOSC8:NM_181503:exon7:c.373T>C:p.C125R","exosome component 8","-0.183289318 (37.9139%)","1.76E-05(76.5597%)","13q13.3","rs146016427","0.929:D",{"v":1.22E-5,"d":"1.22E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
[9448,"Male","chr11",126333187,126333187,"C","T","Het","Dmis","Maternal_inheritance","KIRREL3","nonsynonymous SNV","KIRREL3:NM_001161707:exon6:c.607G>A:p.G203S,KIRREL3:NM_001301097:exon6:c.607G>A:p.G203S,KIRREL3:NM_032531:exon6:c.607G>A:p.G203S","kin of IRRE like 3 (Drosophila)","-0.701267867 (15.4897%)","0.977505781(12.0933%)","11q24.2","rs779074768","0.840:D",{"v":8.15e-06,"d":"8.15E-06"},{"v":1E-4,"d":"1.00E-04"},{"v":3.23e-05,"d":"3.23E-05"},0]
[6247,"Male","chr17",78184462,78184462,"C","T","Het","Dmis","Maternal_inheritance","SGSH","nonsynonymous SNV","SGSH:NM_000199:exon8:c.1298G>A:p.R433Q","N-sulfoglucosamine sulfohydrolase","1.137890968 (92.834%)","0.00010579(71.6269%)","17q25.3","rs104894641","0.969:D",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
[7523,"Female","chr13",37583366,37583366,"G","A","Het","Dmis","Maternal_inheritance","EXOSC8","nonsynonymous SNV","EXOSC8:NM_181503:exon11:c.761G>A:p.R254Q","exosome component 8","-0.183289318 (37.9139%)","1.76E-05(76.5597%)","13q13.3","rs539961549","0.735:D",{"v":1.63E-5,"d":"1.63E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
[7855,"Male","chr6",157528219,157528219,"C","T","Het","Dmis","Maternal_inheritance","ARID1B","nonsynonymous SNV","ARID1B:NM_017519:exon19:c.5905C>T:p.H1969Y,ARID1B:NM_001346813:exon20:c.6064C>T:p.H2022Y,ARID1B:NM_020732:exon20:c.5944C>T:p.H1982Y","AT-rich interaction domain 1B","-2.205109578 (1.51655%)","0.99994993(3.2099%)","6q25.3","rs772582709","0.756:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[8652,"Male","chr1",114445413,114445413,"-","T","Het","PTV","Maternal_inheritance","AP4B1","frameshift insertion","AP4B1:NM_001253852:exon2:c.184dupA:p.I62Nfs*49,AP4B1:NM_006594:exon3:c.184dupA:p.I62Nfs*49","adaptor related protein complex 4 beta 1 subunit","-0.343874938 (29.0634%)","2.69E-08(87.7421%)","1p13.2","-","-","-","-","-","-"]
[9163,"Female","chr16",89259962,89259962,"T","C","Het","Dmis","Maternal_inheritance","CDH15","nonsynonymous SNV","CDH15:NM_004933:exon12:c.1940T>C:p.L647P","cadherin 15","0.200015955 (63.8921%)","5.96E-12(94.4911%)","16q24.3","-","0.875:D","-","-","-","-"]
[9172,"Female","chr17",60060203,60060203,"A","T","Het","Dmis","Maternal_inheritance","MED13","nonsynonymous SNV","MED13:NM_005121:exon16:c.3161T>A:p.L1054H","mediator complex subunit 13","-2.759416599 (0.85668%)","1(0.3512%)","17q23.2","-","0.947:D","-","-","-","-"]
[9219,"Male","chr5",32404087,32404087,"C","T","Het","Dmis","Maternal_inheritance","ZFR","nonsynonymous SNV","ZFR:NM_016107:exon7:c.1148G>A:p.R383H","zinc finger RNA binding protein","-1.373309171 (4.82172%)","0.99999967(1.3333%)","5p13.3","rs765916507","0.815:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
[9478,"Male","chr12",4778962,4778962,"G","C","Het","Dmis","Maternal_inheritance","NDUFA9","nonsynonymous SNV","NDUFA9:NM_005002:exon8:c.779G>C:p.G260A","NADH:ubiquinone oxidoreductase subunit A9","0.548043921 (80.0417%)","0.542744184(28.7791%)","12p13.32","-","0.900:D","-","-",{"v":3.23e-05,"d":"3.23E-05"},0.0006]
[9484,"Male","chr19",46283202,46283205,"TCTG","-","Het","PTV","Maternal_inheritance","DMPK","frameshift deletion","DMPK:NM_001081563:exon1:c.113_116del:p.T38Rfs*30","dystrophia myotonica protein kinase","-0.218128743 (36.0037%)","0.033081179(49.1687%)","19q13.32","rs761384159","-",{"v":2.66e-05,"d":"2.66E-05"},{"v":1E-4,"d":"1.00E-04"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
[9484,"Male","chr8",61734481,61734481,"C","T","Het","Dmis","Maternal_inheritance","CHD7","nonsynonymous SNV","CHD7:NM_017780:exon10:c.2830C>T:p.R944C","chromodomain helicase DNA binding protein 7","-2.248811659 (1.42973%)","1(0.1920%)","8q12.2","rs587783435","0.914:D",{"v":2.86e-05,"d":"2.86E-05"},0,"-","-"]
[9490,"Female","chrX",147014262,147014262,"A","C","Het","Dmis","Maternal_inheritance","FMR1","nonsynonymous SNV","FMR1:NM_001185075:exon9:c.860A>C:p.Q287P,FMR1:NM_001185076:exon9:c.860A>C:p.Q287P,FMR1:NM_001185081:exon9:c.860A>C:p.Q287P,FMR1:NM_001185082:exon9:c.860A>C:p.Q287P,FMR1:NM_002024:exon9:c.860A>C:p.Q287P","fragile X mental retardation 1","0.329079626 (70.6008%)","0.127197887(41.6406%)","Xq27.3","-","0.827:D","-","-","-","-"]
[9490,"Female","chr22",38470344,38470344,"A","C","Het","Dmis","Maternal_inheritance","PICK1","nonsynonymous SNV","PICK1:NM_001039583:exon12:c.865A>C:p.T289P,PICK1:NM_001039584:exon12:c.865A>C:p.T289P,PICK1:NM_012407:exon12:c.865A>C:p.T289P","protein interacting with PRKCA 1","-0.783115708 (13.2843%)","0.555069205(28.4719%)","22q13.1","-","0.930:D","-","-","-","-"]
[9526,"Male","chr9",133936587,133936587,"C","T","Het","Dmis","Maternal_inheritance","LAMC3","nonsynonymous SNV","LAMC3:NM_006059:exon13:c.2324C>T:p.T775I","laminin subunit gamma 3","2.420983809 (99.016%)","9.82E-11(92.8999%)","9q34.12","-","0.865:D","-","-","-","-"]
[9538,"Male","chr17",14110223,14110223,"A","G","Het","Dmis","Maternal_inheritance","COX10","nonsynonymous SNV","COX10:NM_001303:exon7:c.1025A>G:p.Y342C","COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor","0.572098044 (80.9505%)","0.646572546(26.0850%)","17p12","-","0.976:D","-","-","-","-"]
[9556,"Female","chr8",100796615,100796615,"C","T","Het","Dmis","Maternal_inheritance","VPS13B","nonsynonymous SNV","VPS13B:NM_017890:exon43:c.7927C>T:p.R2643W,VPS13B:NM_152564:exon43:c.7852C>T:p.R2618W","vacuolar protein sorting 13 homolog B (yeast)","-2.877970131 (0.769854%)","9.81E-27(99.4239%)","8q22.2","rs779101063","0.897:D","-","-",{"v":3.23e-05,"d":"3.23E-05"},0]
[9556,"Female","chr2",25467031,25467031,"T","A","Het","Dmis","Maternal_inheritance","DNMT3A","nonsynonymous SNV","DNMT3A:NM_001320893:exon10:c.1388A>T:p.Q463L,DNMT3A:NM_153759:exon11:c.1277A>T:p.Q426L,DNMT3A:NM_022552:exon15:c.1844A>T:p.Q615L,DNMT3A:NM_175629:exon15:c.1844A>T:p.Q615L","DNA (cytosine-5-)-methyltransferase 3 alpha","-1.956719104 (2.10118%)","7.73E-45(99.9287%)","2p23.3","-","0.831:D","-","-","-","-"]
[9580,"Female","chr2",166165900,166165900,"C","T","Het","Dmis","Maternal_inheritance","SCN2A","nonsynonymous SNV","SCN2A:NM_001040142:exon6:c.644C>T:p.A215V,SCN2A:NM_021007:exon6:c.644C>T:p.A215V","sodium voltage-gated channel alpha subunit 2","-2.505757944 (1.05348%)","0.999999992(0.7243%)","2q24.3","rs149024364","0.909:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
[9580,"Female","chr11",118375060,118375060,"C","G","Het","Dmis","Maternal_inheritance","KMT2A","nonsynonymous SNV","KMT2A:NM_001197104:exon27:c.8453C>G:p.P2818R,KMT2A:NM_005933:exon27:c.8444C>G:p.P2815R","lysine methyltransferase 2A","-4.13791644 (0.231535%)","1(0.0055%)","11q23.3","rs781858437","0.817:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
[9592,"Male","chr1",8416160,8416160,"C","T","Het","Dmis","Maternal_inheritance","RERE","nonsynonymous SNV;potential splicing","RERE:NM_001042682:exon11:c.2824G>A:p.G942S,RERE:NM_001042681:exon21:c.4486G>A:p.G1496S,RERE:NM_012102:exon22:c.4486G>A:p.G1496S","-","-","0.999995655(2.1509%)","1p36.23","rs202052220","0.696:T",{"v":6.21e-06,"d":"6.21E-06"},0,"-","-"]
[9592,"Male","chr2",74072364,74072364,"A","C","Het","Dmis","Maternal_inheritance","STAMBP","nonsynonymous SNV","STAMBP:NM_201647:exon4:c.350A>C:p.E117A,STAMBP:NM_213622:exon4:c.350A>C:p.E117A,STAMBP:NM_006463:exon5:c.350A>C:p.E117A","STAM binding protein","0.053665262 (54.1561%)","0.001430273(63.1770%)","2p13.1","rs780086128","0.765:D",{"v":4.07E-6,"d":"4.07E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[9592,"Male","chr1",40430897,40430897,"C","T","Het","Dmis","Maternal_inheritance","MFSD2A","nonsynonymous SNV","MFSD2A:NM_001136493:exon4:c.407C>T:p.T136M,MFSD2A:NM_001287809:exon4:c.257C>T:p.T86M,MFSD2A:NM_001349821:exon4:c.362C>T:p.T121M,MFSD2A:NM_001349822:exon4:c.368C>T:p.T123M,MFSD2A:NM_001349823:exon4:c.23C>T:p.T8M,MFSD2A:NM_032793:exon4:c.368C>T:p.T123M","major facilitator superfamily domain containing 2A","-0.512253979 (21.2781%)","0.91767122(16.7846%)","1p34.2","rs1009077956","0.896:D","-","-","-","-"]
[9598,"Male","chr2",50733720,50733720,"G","T","Het","Dmis","Maternal_inheritance","NRXN1","nonsynonymous SNV","NRXN1:NM_001330087:exon8:c.2299C>A:p.L767I,NRXN1:NM_001330096:exon8:c.2299C>A:p.L767I,NRXN1:NM_001330083:exon9:c.2344C>A:p.L782I,NRXN1:NM_001330084:exon9:c.2344C>A:p.L782I,NRXN1:NM_001330088:exon9:c.2329C>A:p.L777I,NRXN1:NM_001330095:exon11:c.2359C>A:p.L787I,NRXN1:NM_001330077:exon12:c.2386C>A:p.L796I,NRXN1:NM_001330082:exon12:c.2386C>A:p.L796I,NRXN1:NM_001330085:exon12:c.2383C>A:p.L795I,NRXN1:NM_001330094:exon12:c.2398C>A:p.L800I,NRXN1:NM_001330078:exon13:c.2410C>A:p.L804I,NRXN1:NM_001330086:exon13:c.2410C>A:p.L804I,NRXN1:NM_001330093:exon13:c.2407C>A:p.L803I,NRXN1:NM_004801:exon13:c.2410C>A:p.L804I,NRXN1:NM_001135659:exon14:c.2530C>A:p.L844I","neurexin 1","-1.883401977 (2.29799%)","0.999948738(3.2209%)","2p16.3","rs763449110","0.810:D",{"v":1.63E-5,"d":"1.63E-05"},1E-4,"-","-"]
[9613,"Male","chr11",64428458,64428458,"C","G","Het","Dmis","Maternal_inheritance","NRXN2","nonsynonymous SNV","NRXN2:NM_138732:exon9:c.1859G>C:p.R620P,NRXN2:NM_015080:exon10:c.1952G>C:p.R651P","neurexin 2","-3.073708586 (0.654087%)","0.999895574(3.7421%)","11q13.1","-","0.825:D","-","-","-","-"]
[9628,"Female","chr6",11185508,11185508,"C","T","Het","Dmis","Maternal_inheritance","NEDD9","nonsynonymous SNV","NEDD9:NM_001271033:exon6:c.1945G>A:p.A649T,NEDD9:NM_006403:exon7:c.2392G>A:p.A798T,NEDD9:NM_001142393:exon8:c.2392G>A:p.A798T","neural precursor cell expressed, developmentally down-regulated 9","0.054905748 (54.2892%)","0.534981125(28.9657%)","6p24.2","-","0.863:D",0,0,"-","-"]
[9628,"Female","chr2",183846022,183846022,"C","T","Het","Dmis","Maternal_inheritance","NCKAP1","nonsynonymous SNV","NCKAP1:NM_013436:exon13:c.1291G>A:p.V431M,NCKAP1:NM_205842:exon14:c.1309G>A:p.V437M","NCK associated protein 1","-1.880614062 (2.30377%)","0.999999991(0.7407%)","2q32.1","rs750171376","0.784:D",{"v":1.63E-5,"d":"1.63E-05"},0,"-","-"]
[9628,"Female","chr12",116428906,116428906,"A","C","Het","Dmis","Maternal_inheritance","MED13L","nonsynonymous SNV","MED13L:NM_015335:exon17:c.3853T>G:p.Y1285D","mediator complex subunit 13 like","-1.606592776 (3.33989%)","0.999999999(0.5706%)","12q24.21","-","0.936:D","-","-","-","-"]
[9631,"Male","chr9",712253,712253,"G","C","Het","Dmis","Maternal_inheritance","KANK1","nonsynonymous SNV","KANK1:NM_153186:exon2:c.1013G>C:p.G338A,KANK1:NM_015158:exon3:c.1487G>C:p.G496A,KANK1:NM_001256877:exon4:c.1487G>C:p.G496A,KANK1:NM_001256876:exon7:c.1487G>C:p.G496A","KN motif and ankyrin repeat domains 1","-0.117437522 (42.1104%)","-","9p24.3","-","0.742:D","-","-","-","-"]
[9631,"Male","chr8",27320833,27320833,"C","T","Het","Dmis","Maternal_inheritance","CHRNA2","nonsynonymous SNV","CHRNA2:NM_000742:exon6:c.1127G>A:p.R376Q,CHRNA2:NM_001282455:exon6:c.1082G>A:p.R361Q,CHRNA2:NM_001347705:exon6:c.650G>A:p.R217Q,CHRNA2:NM_001347706:exon6:c.650G>A:p.R217Q,CHRNA2:NM_001347708:exon6:c.533G>A:p.R178Q,CHRNA2:NM_001347707:exon7:c.533G>A:p.R178Q","cholinergic receptor nicotinic alpha 2 subunit","-1.014313559 (8.83885%)","0.001766479(62.3429%)","8p21.2","rs374512926","0.879:D",{"v":2.06e-05,"d":"2.06E-05"},0,"-","-"]
[9637,"Male","chr15",28437208,28437208,"G","A","Het","Dmis","Maternal_inheritance","HERC2","nonsynonymous SNV","HERC2:NM_004667:exon53:c.8350C>T:p.R2784C","HECT and RLD domain containing E3 ubiquitin protein ligase 2","-4.457155603 (0.162075%)","1(0.0055%)","15q13.1","rs769732522","0.875:D",{"v":2.03e-05,"d":"2.03E-05"},0,"-","-"]
[9640,"Male","chr17",61489443,61489443,"C","T","Het","Dmis","Maternal_inheritance","TANC2","nonsynonymous SNV","TANC2:NM_025185:exon21:c.3628C>T:p.R1210W","tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2","-3.875664698 (0.318361%)","0.999999966(0.8999%)","17q23.3","-","0.879:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
[9643,"Male","chr3",1443125,1443125,"C","T","Het","PTV","Maternal_inheritance","CNTN6","stopgain","CNTN6:NM_001349357:exon19:c.2401C>T:p.Q801X,CNTN6:NM_001349358:exon19:c.2158C>T:p.Q720X,CNTN6:NM_001349359:exon19:c.1591C>T:p.Q531X,CNTN6:NM_001349360:exon19:c.1591C>T:p.Q531X,CNTN6:NM_001289081:exon20:c.2497C>T:p.Q833X,CNTN6:NM_001349356:exon20:c.2605C>T:p.Q869X,CNTN6:NM_001349362:exon20:c.1591C>T:p.Q531X,CNTN6:NM_001289080:exon21:c.2713C>T:p.Q905X,CNTN6:NM_014461:exon21:c.2713C>T:p.Q905X,CNTN6:NM_001349352:exon22:c.2713C>T:p.Q905X,CNTN6:NM_001349353:exon22:c.2713C>T:p.Q905X,CNTN6:NM_001349354:exon22:c.2713C>T:p.Q905X,CNTN6:NM_001349355:exon22:c.2713C>T:p.Q905X,CNTN6:NM_001349361:exon22:c.1591C>T:p.Q531X,CNTN6:NM_001349350:exon23:c.2713C>T:p.Q905X,CNTN6:NM_001349351:exon23:c.2713C>T:p.Q905X","contactin 6","-0.826604557 (12.3003%)","3.59E-22(98.9904%)","3p26.3","rs947376765","0.730:D","-","-","-","-"]
[9652,"Male","chr22",51159631,51159631,"C","-","Het","PTV","Maternal_inheritance","SHANK3","frameshift deletion","SHANK3:NM_033517:exon21:c.3328delC:p.S1111Pfs*69","SH3 and multiple ankyrin repeat domains 3","-","0.99983962(4.1317%)","22q13.33","-","-","-","-","-","-"]
[9659,"Male","chr19",7615916,7615916,"G","C","Het","Dmis","Maternal_inheritance","PNPLA6","nonsynonymous SNV","PNPLA6:NM_001166114:exon17:c.2107G>C:p.V703L,PNPLA6:NM_001166111:exon19:c.2134G>C:p.V712L,PNPLA6:NM_001166112:exon19:c.1912G>C:p.V638L,PNPLA6:NM_001166113:exon20:c.1990G>C:p.V664L,PNPLA6:NM_006702:exon20:c.1990G>C:p.V664L","patatin like phospholipase domain containing 6","-2.452309641 (1.12295%)","1.59E-08(88.3457%)","19p13.2","-","0.726:D","-","-","-","-"]
[9676,"Female","chr17",465842,465842,"G","A","Het","Dmis","Maternal_inheritance","VPS53","nonsynonymous SNV","VPS53:NM_018289:exon13:c.1370C>T:p.S457F,VPS53:NM_001128159:exon14:c.1457C>T:p.S486F","VPS53, GARP complex subunit","-0.837482298 (12.0456%)","5.00E-05(73.8436%)","17p13.3","-","0.903:D","-","-","-","-"]
[9679,"Male","chr22",18918627,18918627,"C","T","Het","Dmis","Maternal_inheritance","PRODH","nonsynonymous SNV","PRODH:NM_001195226:exon2:c.34G>A:p.G12R,PRODH:NM_016335:exon3:c.358G>A:p.G120R","proline dehydrogenase (oxidase) 1","1.433781382 (95.8092%)","4.75E-06(79.5775%)","22q11.21","-","0.916:D","-","-","-","-"]
[9679,"Male","chr2",210681787,210681787,"T","G","Het","Dmis","Maternal_inheritance","UNC80","nonsynonymous SNV","UNC80:NM_032504:exon10:c.1490T>G:p.F497C,UNC80:NM_182587:exon10:c.1490T>G:p.F497C","unc-80 homolog, NALCN activator","-","0.139839111(41.0590%)","2q34","-","0.778:D","-","-","-","-"]
[9833,"Male","chr9",101068563,101068563,"T","C","Het","Dmis","Maternal_inheritance","GABBR2","nonsynonymous SNV","GABBR2:NM_005458:exon15:c.2069A>G:p.K690R","gamma-aminobutyric acid type B receptor subunit 2","-1.244577745 (6.03728%)","0.999790263(4.2853%)","9q22.33","-","0.946:D","-","-","-","-"]
[9836,"Female","chr3",48450804,48450804,"G","A","Het","Dmis","Maternal_inheritance","PLXNB1","nonsynonymous SNV","PLXNB1:NM_001130082:exon34:c.6020C>T:p.A2007V,PLXNB1:NM_002673:exon34:c.6020C>T:p.A2007V","plexin B1","-0.517678516 (21.0755%)","0.850195108(19.8464%)","3p21.31","rs755289308","0.866:D",{"v":1.62e-05,"d":"1.62E-05"},0,"-","-"]
[9867,"Female","chr14",53529892,53529892,"C","A","Het","Dmis","Maternal_inheritance","DDHD1","nonsynonymous SNV","DDHD1:NM_001160148:exon7:c.1535G>T:p.R512L,DDHD1:NM_030637:exon7:c.1535G>T:p.R512L,DDHD1:NM_001160147:exon8:c.1556G>T:p.R519L","DDHD domain containing 1","-0.743446591 (14.3262%)","0.968458214(13.1303%)","14q22.1","-","0.880:D","-","-","-","-"]
[9867,"Female","chr16",57778402,57778402,"T","C","Het","Dmis","Maternal_inheritance","KATNB1","nonsynonymous SNV","KATNB1:NM_005886:exon4:c.268T>C:p.W90R","katanin p80 (WD repeat containing) subunit B 1","-0.969951674 (9.52767%)","0.496734037(30.0027%)","16q21","-","0.997:D","-","-","-","-"]
[9870,"Female","chr2",202631960,202631960,"A","C","Het","Dmis","Maternal_inheritance","ALS2","nonsynonymous SNV","ALS2:NM_001135745:exon3:c.167T>G:p.L56R,ALS2:NM_020919:exon3:c.167T>G:p.L56R","ALS2, alsin Rho guanine nucleotide exchange factor","-2.155938739 (1.60338%)","0.000769641(65.5693%)","2q33.1","-","0.997:D","-","-","-","-"]
[9885,"Female","chr15",25599561,25599561,"G","A","Het","PTV","Maternal_inheritance","UBE3A","stopgain","UBE3A:NM_130838:exon8:c.2233C>T:p.Q745X,UBE3A:NM_130839:exon11:c.2293C>T:p.Q765X,UBE3A:NM_000462:exon12:c.2302C>T:p.Q768X","ubiquitin protein ligase E3A","-1.333310276 (5.17481%)","0.999576244(4.9328%)","15q11.2","rs587781219","0.790:D","-","-","-","-"]
[9907,"Female","chr5",170632565,170632565,"T","C","Het","Dmis","Maternal_inheritance","RANBP17","nonsynonymous SNV","RANBP17:NM_022897:exon20:c.2180T>C:p.I727T","RAN binding protein 17","0.062242183 (54.758%)","8.61E-36(99.7970%)","5q35.1","-","0.955:D","-","-","-","-"]
[9928,"Male","chrX",153692296,153692296,"G","A","Hemi","Dmis","Maternal_inheritance","PLXNA3","nonsynonymous SNV","PLXNA3:NM_017514:exon7:c.1550G>A:p.C517Y","plexin A3","-2.049448229 (1.83492%)","0.983112793(11.1989%)","Xq28","-","0.983:D","-","-","-","-"]
[9952,"Female","chr7",107602049,107602049,"C","A","Het","Dmis","Maternal_inheritance","LAMB1","nonsynonymous SNV","LAMB1:NM_002291:exon16:c.1930G>T:p.G644C","laminin subunit beta 1","-1.235752647 (6.17041%)","1.79E-06(81.4540%)","7q31.1","-","0.799:D","-","-","-","-"]
[9718,"Male","chr2",149247712,149247712,"G","T","Het","Dmis","Maternal_inheritance","MBD5","nonsynonymous SNV","MBD5:NM_018328:exon12:c.3812G>T:p.R1271I","methyl-CpG binding domain protein 5","-1.988685078 (2.00857%)","0.999852333(4.0604%)","2q23.1","rs759137833","0.776:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
[9718,"Male","chr20",44650480,44650480,"-","A","Het","PTV","Maternal_inheritance","SLC12A5","frameshift insertion","SLC12A5:NM_001134771:exon1:c.77dupA:p.H26Qfs*16","solute carrier family 12 member 5","-1.861874059 (2.36745%)","0.999987272(2.5953%)","20q13.12","-","-","-","-","-","-"]
[9740,"Male","chr9",312083,312083,"G","A","Het","Dmis","Maternal_inheritance","DOCK8","nonsynonymous SNV","DOCK8:NM_001190458:exon5:c.454G>A:p.E152K,DOCK8:NM_001193536:exon5:c.454G>A:p.E152K,DOCK8:NM_203447:exon6:c.658G>A:p.E220K","dedicator of cytokinesis 8","-0.828277355 (12.254%)","0.000135434(70.9410%)","9p24.3","rs373168547","0.756:D",{"v":1.22E-5,"d":"1.22E-05"},{"v":0,"d":"0.00E+00"},{"v":6.46e-05,"d":"6.46E-05"},0.0006]
[9758,"Male","chr11",71146563,71146563,"G","A","Het","Dmis","Maternal_inheritance","DHCR7","nonsynonymous SNV","DHCR7:NM_001163817:exon9:c.1286C>T:p.P429L,DHCR7:NM_001360:exon9:c.1286C>T:p.P429L","7-dehydrocholesterol reductase","1.480335588 (96.0755%)","5.04E-08(86.9026%)","11q13.4","-","0.968:D","-","-","-","-"]
[9937,"Male","chr5",14291265,14291265,"G","C","Het","Dmis","Maternal_inheritance","TRIO","nonsynonymous SNV","TRIO:NM_007118:exon5:c.981G>C:p.Q327H","trio Rho guanine nucleotide exchange factor","-4.532800748 (0.150498%)","1(0.1536%)","5p15.2","-","0.797:D","-","-","-","-"]
[6858,"Female","chr14",53619267,53619267,"C","G","Het","Dmis","Maternal_inheritance","DDHD1","nonsynonymous SNV","DDHD1:NM_001160147:exon1:c.550G>C:p.G184R,DDHD1:NM_001160148:exon1:c.550G>C:p.G184R,DDHD1:NM_030637:exon1:c.550G>C:p.G184R","DDHD domain containing 1","-0.743446591 (14.3262%)","0.968458214(13.1303%)","14q22.1","-","0.870:D","-","-","-","-"]
[9974,"Female","chr16",3790479,3790479,"G","A","Het","Dmis","Maternal_inheritance","CREBBP","nonsynonymous SNV","CREBBP:NM_001079846:exon23:c.3940C>T:p.P1314S,CREBBP:NM_004380:exon24:c.4054C>T:p.P1352S","CREB binding protein","-4.226101807 (0.21417%)","1(0.1701%)","16p13.3","-","0.849:D","-","-","-","-"]
[10058,"Female","chr16",2110684,2110684,"C","T","Het","Dmis","Maternal_inheritance","TSC2","nonsynonymous SNV","TSC2:NM_001318831:exon8:c.389C>T:p.P130L,TSC2:NM_001318827:exon10:c.878C>T:p.P293L,TSC2:NM_001318829:exon10:c.842C>T:p.P281L,TSC2:NM_000548:exon11:c.989C>T:p.P330L,TSC2:NM_001077183:exon11:c.989C>T:p.P330L,TSC2:NM_001114382:exon11:c.989C>T:p.P330L,TSC2:NM_001318832:exon11:c.1022C>T:p.P341L","tuberous sclerosis 2","-2.944580835 (0.729335%)","0.999999983(0.8176%)","16p13.3","rs140910086","0.748:D",{"v":3.66e-05,"d":"3.66E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[10058,"Female","chr8",65509474,65509474,"C","G","Het","Dmis","Maternal_inheritance","CYP7B1","nonsynonymous SNV","CYP7B1:NM_004820:exon6:c.1246G>C:p.D416H","cytochrome P450 family 7 subfamily B member 1","-1.011184923 (8.89095%)","2.14E-06(81.1413%)","8q12.3","-","0.927:D",{"v":4.09e-06,"d":"4.09E-06"},{"v":5.81e-05,"d":"5.81E-05"},"-","-"]
[10064,"Male","chr17",61498466,61498466,"G","A","Het","Dmis","Maternal_inheritance","TANC2","nonsynonymous SNV","TANC2:NM_025185:exon25:c.5123G>A:p.G1708D","tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2","-3.875664698 (0.318361%)","0.999999966(0.8999%)","17q23.3","rs760778311","0.839:D",{"v":8.12e-06,"d":"8.12E-06"},1E-4,"-","-"]
[10064,"Male","chr5",149677071,149677071,"A","C","Het","PTV","Maternal_inheritance","ARSI","stopgain","ARSI:NM_001012301:exon2:c.1416T>G:p.Y472X","arylsulfatase family member I","-0.379955502 (27.3211%)","1.05E-09(91.0453%)","5q32","-","0.390:T","-","-","-","-"]
[10089,"Female","chr11",114121138,114121138,"C","T","Het","Dmis","Maternal_inheritance","ZBTB16","nonsynonymous SNV","ZBTB16:NM_001018011:exon7:c.1883C>T:p.S628L,ZBTB16:NM_006006:exon7:c.1883C>T:p.S628L","zinc finger and BTB domain containing 16","-0.934485391 (10.1065%)","0.980087306(11.6872%)","11q23.2","rs767860341","0.813:D",{"v":2.03e-05,"d":"2.03E-05"},0,"-","-"]
[10108,"Male","chr17",1640687,1640687,"C","T","Het","Dmis","Maternal_inheritance","WDR81","nonsynonymous SNV","WDR81:NM_001163673:exon10:c.1925C>T:p.S642F,WDR81:NM_001163809:exon10:c.5534C>T:p.S1845F,WDR81:NM_001163811:exon10:c.1853C>T:p.S618F,WDR81:NM_152348:exon11:c.2381C>T:p.S794F","WD repeat domain 81","-","1.26E-05(77.4266%)","17p13.3","-","0.713:D","-","-","-","-"]
[10149,"Male","chr8",100287423,100287423,"C","T","Het","Dmis","Maternal_inheritance","VPS13B","nonsynonymous SNV","VPS13B:NM_017890:exon19:c.2765C>T:p.P922L,VPS13B:NM_152564:exon19:c.2765C>T:p.P922L","vacuolar protein sorting 13 homolog B (yeast)","-2.877970131 (0.769854%)","9.81E-27(99.4239%)","8q22.2","-","0.791:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.81e-05,"d":"5.81E-05"},{"v":3.25e-05,"d":"3.25E-05"},0.0006]
[10290,"Male","chr16",56377717,56377717,"A","G","Het","Dmis","Maternal_inheritance","GNAO1","nonsynonymous SNV","GNAO1:NM_138736:exon8:c.920A>G:p.Q307R","G protein subunit alpha o1","-0.935109664 (10.0891%)","0.984288177(11.0178%)","16q12.2","-","0.877:D","-","-","-","-"]
[10182,"Male","chr14",68221937,68221937,"G","A","Het","Dmis","Maternal_inheritance","ZFYVE26","nonsynonymous SNV","ZFYVE26:NM_015346:exon37:c.6817C>T:p.R2273W","zinc finger FYVE-type containing 26","-0.954662356 (9.78236%)","1.04E-11(94.1948%)","14q24.1","rs745597104","0.840:D",{"v":1.63E-5,"d":"1.63E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
[10284,"Male","chr6",52319010,52319010,"C","T","Het","Dmis","Maternal_inheritance","EFHC1","nonsynonymous SNV","EFHC1:NM_018100:exon5:c.841C>T:p.R281W,EFHC1:NM_001172420:exon6:c.784C>T:p.R262W","EF-hand domain (C-terminal) containing 1","0.83608509 (87.9775%)","5.06E-12(94.6063%)","6p12.2","-","0.737:D","-","-","-","-"]
["A7","Male","chr1",153641015,153641015,"G","A","Het","Dmis","Maternal_inheritance","ILF2","nonsynonymous SNV","ILF2:NM_001267809:exon4:c.13C>T:p.R5W,ILF2:NM_004515:exon4:c.127C>T:p.R43W","interleukin enhancer binding factor 2","-0.508348935 (21.4517%)","0.997052017(7.4623%)","1q21.3","rs776495018","0.829:D",{"v":8.14E-6,"d":"8.14E-06"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
[10355,"Male","chr6",44278124,44278124,"C","T","Het","Dmis","Maternal_inheritance","AARS2","nonsynonymous SNV","AARS2:NM_020745:exon5:c.806G>A:p.G269D","alanyl-tRNA synthetase 2, mitochondrial","0.674883651 (84.0704%)","1.65E-07(85.4376%)","6p21.1","rs778785211","0.999:D","-","-","-","-"]
[10355,"Male","chr2",202591240,202591240,"T","C","Het","Dmis","Maternal_inheritance","ALS2","nonsynonymous SNV","ALS2:NM_020919:exon19:c.3215A>G:p.Y1072C","ALS2, alsin Rho guanine nucleotide exchange factor","-2.155938739 (1.60338%)","0.000769641(65.5693%)","2q33.1","-","0.992:D","-","-","-","-"]
["A94","Male","chr5",6605432,6605432,"G","C","Het","Dmis","Maternal_inheritance","NSUN2","nonsynonymous SNV","NSUN2:NM_001193455:exon14:c.1586C>G:p.S529C,NSUN2:NM_017755:exon15:c.1691C>G:p.S564C","NOP2/Sun RNA methyltransferase family member 2","-1.246929069 (6.00255%)","0.961845836(13.7394%)","5p15.31","-","0.896:D","-","-","-","-"]
["A82","Male","chr9",136218979,136218979,"C","T","Het","Dmis","Maternal_inheritance","SURF1","nonsynonymous SNV","SURF1:NM_001280787:exon7:c.443G>A:p.G148E,SURF1:NM_003172:exon8:c.770G>A:p.G257E","surfeit 1","-0.069732819 (45.6703%)","1.02E-13(96.0219%)","9q34.2","-","0.942:D","-","-","-","-"]
["A49","Male","chr1",45407282,45407282,"A","G","Het","Dmis","Maternal_inheritance","EIF2B3","nonsynonymous SNV","EIF2B3:NM_001166588:exon4:c.350T>C:p.V117A,EIF2B3:NM_001261418:exon4:c.350T>C:p.V117A,EIF2B3:NM_020365:exon4:c.350T>C:p.V117A","eukaryotic translation initiation factor 2B subunit gamma","0.420895505 (74.9305%)","0.393440243(32.8779%)","1p34.1","-","0.718:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
["A85","Male","chr3",4735290,4735290,"G","A","Het","Dmis","Maternal_inheritance","ITPR1","nonsynonymous SNV","ITPR1:NM_001168272:exon32:c.4101G>A:p.M1367I,ITPR1:NM_002222:exon32:c.4074G>A:p.M1358I,ITPR1:NM_001099952:exon33:c.4119G>A:p.M1373I","inositol 1,4,5-trisphosphate receptor type 1","-4.625568658 (0.138921%)","1(0.2689%)","3p26.1","-","0.807:D","-","-",{"v":3.23e-05,"d":"3.23E-05"},0]
[10079,"Female","chr17",61790815,61790815,"C","T","Het","Dmis","Maternal_inheritance","STRADA","nonsynonymous SNV","STRADA:NM_001003786:exon4:c.188G>A:p.R63Q,STRADA:NM_001165969:exon4:c.212G>A:p.R71Q,STRADA:NM_001165970:exon4:c.167G>A:p.R56Q,STRADA:NM_153335:exon4:c.188G>A:p.R63Q,STRADA:NM_001003788:exon5:c.125G>A:p.R42Q,STRADA:NM_001003787:exon6:c.299G>A:p.R100Q","STE20-related kinase adaptor alpha","-0.037400113 (47.6789%)","0.002015391(61.8162%)","17q23.3","-","0.728:D","-","-",{"v":3.23e-05,"d":"3.23E-05"},0]
[10079,"Female","chr12",95397401,95397401,"C","T","Het","Dmis","Maternal_inheritance","NDUFA12","nonsynonymous SNV","NDUFA12:NM_001258338:exon1:c.56G>A:p.G19D,NDUFA12:NM_018838:exon1:c.56G>A:p.G19D","NADH:ubiquinone oxidoreductase subunit A12","0.226118052 (65.1366%)","0.002015993(61.8107%)","12q22","-","0.887:D","-","-",{"v":3.23e-05,"d":"3.23E-05"},0.0006]
[10335,"Male","chr5",11199599,11199599,"G","A","Het","Dmis","Maternal_inheritance","CTNND2","nonsynonymous SNV","CTNND2:NM_001288716:exon8:c.925C>T:p.R309C,CTNND2:NM_001288715:exon10:c.1663C>T:p.R555C,CTNND2:NM_001288717:exon10:c.637C>T:p.R213C,CTNND2:NM_001332:exon11:c.1936C>T:p.R646C","catenin delta 2","-2.728644226 (0.868257%)","0.999999952(0.9383%)","5p15.2","rs767356376","0.909:D",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
["A596","Female","chr7",151878476,151878476,"C","G","Het","Dmis","Maternal_inheritance","KMT2C","nonsynonymous SNV","KMT2C:NM_170606:exon36:c.6469G>C:p.D2157H","lysine methyltransferase 2C","-0.714419772 (15.1192%)","1(0.0878%)","7q36.1","rs759071543","0.844:D",{"v":8.14E-6,"d":"8.14E-06"},1E-4,"-","-"]
["A903","Male","chr2",127950726,127950726,"G","A","Het","Dmis","Maternal_inheritance","CYP27C1","nonsynonymous SNV","CYP27C1:NM_001001665:exon7:c.946C>T:p.R316C","cytochrome P450 family 27 subfamily C member 1","-0.886995467 (11.0558%)","0.000184567(70.0137%)","2q14.3","rs764987463","0.950:D",{"v":8.12e-06,"d":"8.12E-06"},0,"-","-"]
["A896","Male","chr2",219526514,219526514,"A","T","Het","PTV","Maternal_inheritance","BCS1L","stopgain","BCS1L:NM_001318836:exon3:c.133A>T:p.K45X,BCS1L:NM_001079866:exon4:c.493A>T:p.K165X,BCS1L:NM_001257344:exon4:c.493A>T:p.K165X,BCS1L:NM_001257342:exon5:c.493A>T:p.K165X,BCS1L:NM_001257343:exon5:c.493A>T:p.K165X,BCS1L:NM_001320717:exon5:c.493A>T:p.K165X,BCS1L:NM_004328:exon5:c.493A>T:p.K165X","BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone","0.103337361 (57.6001%)","2.28E-08(87.9451%)","2q35","-","0.694:T","-","-","-","-"]
["A880","Male","chr2",166243457,166243457,"C","G","Het","Dmis","Maternal_inheritance","SCN2A","nonsynonymous SNV","SCN2A:NM_001040143:exon25:c.4753C>G:p.L1585V,SCN2A:NM_001040142:exon26:c.4753C>G:p.L1585V,SCN2A:NM_021007:exon26:c.4753C>G:p.L1585V","sodium voltage-gated channel alpha subunit 2","-2.505757944 (1.05348%)","0.999999992(0.7243%)","2q24.3","-","0.922:D","-","-","-","-"]
["A880","Male","chr1",44280580,44280580,"T","G","Het","Dmis","Maternal_inheritance","ST3GAL3","nonsynonymous SNV","ST3GAL3:NM_001270461:exon3:c.136T>G:p.F46V,ST3GAL3:NM_001270462:exon3:c.136T>G:p.F46V,ST3GAL3:NM_001270463:exon3:c.181T>G:p.F61V,ST3GAL3:NM_001270464:exon3:c.136T>G:p.F46V,ST3GAL3:NM_001270465:exon3:c.181T>G:p.F61V,ST3GAL3:NM_001270466:exon3:c.136T>G:p.F46V,ST3GAL3:NM_174969:exon3:c.136T>G:p.F46V,ST3GAL3:NM_174970:exon3:c.136T>G:p.F46V,ST3GAL3:NM_174971:exon3:c.136T>G:p.F46V,ST3GAL3:NM_001270459:exon4:c.184T>G:p.F62V,ST3GAL3:NM_001270460:exon4:c.184T>G:p.F62V,ST3GAL3:NM_001350619:exon4:c.229T>G:p.F77V,ST3GAL3:NM_001350620:exon4:c.184T>G:p.F62V,ST3GAL3:NM_006279:exon4:c.184T>G:p.F62V,ST3GAL3:NM_174963:exon4:c.229T>G:p.F77V,ST3GAL3:NM_174964:exon4:c.229T>G:p.F77V,ST3GAL3:NM_174965:exon4:c.229T>G:p.F77V,ST3GAL3:NM_174966:exon4:c.184T>G:p.F62V,ST3GAL3:NM_174967:exon4:c.184T>G:p.F62V,ST3GAL3:NM_174968:exon4:c.184T>G:p.F62V","ST3 beta-galactoside alpha-2,3-sialyltransferase 3","-0.375263119 (27.599%)","0.573989459(28.0988%)","1p34.1","-","0.830:D","-","-","-","-"]
["A876","Female","chr7",151891653,151891653,"T","C","Het","Dmis","Maternal_inheritance","KMT2C","nonsynonymous SNV;potential splicing","KMT2C:NM_170606:exon29:c.4379A>G:p.D1460G","-","-","1(0.0878%)","7q36.1","-","0.842:D","-","-","-","-"]
["A886","Male","chr15",28447547,28447547,"C","T","Het","Dmis","Maternal_inheritance","HERC2","nonsynonymous SNV","HERC2:NM_004667:exon46:c.7426G>A:p.E2476K","HECT and RLD domain containing E3 ubiquitin protein ligase 2","-4.457155603 (0.162075%)","1(0.0055%)","15q13.1","rs781281900","0.777:D",{"v":2.05E-5,"d":"2.05E-05"},0,"-","-"]
[7666,"Male","chr1",197111747,197111751,"AAGAT","-","Het","PTV","Maternal_inheritance","ASPM","frameshift deletion","ASPM:NM_001206846:exon3:c.1631_1635del:p.Y544Sfs*8,ASPM:NM_018136:exon3:c.1631_1635del:p.Y544Sfs*8","abnormal spindle microtubule assembly","0.345649059 (71.4459%)","6.16E-26(99.3690%)","1q31.3","rs199422144","-",{"v":1.22E-5,"d":"1.22E-05"},{"v":0,"d":"0.00E+00"},{"v":9.69e-05,"d":"9.69E-05"},0]
["A758","Male","chr6",152477105,152477105,"G","A","Het","Dmis","Maternal_inheritance","SYNE1","nonsynonymous SNV","SYNE1:NM_001347702:exon3:c.383C>T:p.T128M,SYNE1:NM_001347701:exon5:c.524C>T:p.T175M,SYNE1:NM_033071:exon131:c.23705C>T:p.T7902M,SYNE1:NM_182961:exon132:c.23918C>T:p.T7973M","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.1","rs558928607","0.882:D",{"v":2.84e-05,"d":"2.84E-05"},1E-4,"-","-"]
[7660,"Male","chr2",166930044,166930044,"C","T","Het","Dmis","Maternal_inheritance","SCN1A","nonsynonymous SNV","SCN1A:NM_001165963:exon1:c.88G>A:p.A30T,SCN1A:NM_001165964:exon1:c.88G>A:p.A30T,SCN1A:NM_006920:exon1:c.88G>A:p.A30T,SCN1A:NM_001202435:exon3:c.88G>A:p.A30T","sodium voltage-gated channel alpha subunit 1","-1.851630779 (2.39639%)","1(0.4774%)","2q24.3","-","0.885:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[9922,"Male","chr5",161576180,161576180,"C","T","Het","Dmis","Maternal_inheritance","GABRG2","nonsynonymous SNV","GABRG2:NM_000816:exon8:c.989C>T:p.S330F,GABRG2:NM_198904:exon8:c.989C>T:p.S330F,GABRG2:NM_198903:exon9:c.1109C>T:p.S370F","gamma-aminobutyric acid type A receptor gamma2 subunit","-0.910271913 (10.5985%)","0.958543398(14.0302%)","5q34","-","0.979:D","-","-","-","-"]
[9673,"Male","chr3",55018683,55018683,"G","A","Het","Dmis","Maternal_inheritance","CACNA2D3","nonsynonymous SNV","CACNA2D3:NM_018398:exon30:c.2605G>A:p.E869K","calcium voltage-gated channel auxiliary subunit alpha2delta 3","-1.223659583 (6.34406%)","0.998032255(6.8642%)","3p14.3","-","0.839:D",{"v":5.42e-06,"d":"5.42E-06"},{"v":7.52e-05,"d":"7.52E-05"},"-","-"]
["A1382","Male","chr17",60040261,60040261,"A","G","Het","Dmis","Maternal_inheritance","MED13","nonsynonymous SNV","MED13:NM_005121:exon21:c.4916T>C:p.I1639T","mediator complex subunit 13","-2.759416599 (0.85668%)","1(0.3512%)","17q23.2","-","0.975:D","-","-","-","-"]
["A1382","Male","chr7",66103978,66103978,"T","C","Het","Dmis","Maternal_inheritance","KCTD7","nonsynonymous SNV","KCTD7:NM_001167961:exon4:c.629T>C:p.L210P,KCTD7:NM_153033:exon4:c.629T>C:p.L210P","potassium channel tetramerization domain containing 7","-0.394006823 (26.696%)","0.496529666(30.0137%)","7q11.21","-","0.942:D","-","-","-","-"]
["A1385","Female","chr8",126062850,126062850,"C","T","Het","Dmis","Maternal_inheritance","WASHC5","nonsynonymous SNV","WASHC5:NM_001330609:exon17:c.1711G>A:p.A571T,WASHC5:NM_014846:exon18:c.2155G>A:p.A719T","-","-","-","8q24.13","-","0.840:D","-","-","-","-"]
["A1385","Female","chr10",76741657,76741657,"T","C","Het","Dmis","Maternal_inheritance","KAT6B","nonsynonymous SNV","KAT6B:NM_001256468:exon11:c.1795T>C:p.Y599H,KAT6B:NM_001256469:exon11:c.1468T>C:p.Y490H,KAT6B:NM_012330:exon11:c.2344T>C:p.Y782H","lysine acetyltransferase 6B","-3.45154577 (0.468859%)","0.999999923(1.0370%)","10q22.2","-","0.971:D","-","-","-","-"]
["A1385","Female","chrX",50351130,50351130,"G","T","Het","PTV","Maternal_inheritance","SHROOM4","stopgain","SHROOM4:NM_020717:exon6:c.3012C>A:p.C1004X","shroom family member 4","4.274552544 (99.7569%)","0.997425925(7.2593%)","Xp11.22","-","0.481:T","-","-","-","-"]
["A1402","Male","chr16",15761176,15761176,"C","A","Het","Dmis","Maternal_inheritance","NDE1","nonsynonymous SNV","NDE1:NM_017668:exon3:c.117C>A:p.F39L,NDE1:NM_001143979:exon4:c.117C>A:p.F39L","nudE neurodevelopment protein 1","-0.467111291 (23.084%)","0.047109548(47.2977%)","16p13.11","-","0.801:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A1212","Female","chr8",100396508,100396508,"A","G","Het","Dmis","Maternal_inheritance","VPS13B","nonsynonymous SNV","VPS13B:NM_017890:exon20:c.2897A>G:p.Y966C,VPS13B:NM_152564:exon20:c.2897A>G:p.Y966C","vacuolar protein sorting 13 homolog B (yeast)","-2.877970131 (0.769854%)","9.81E-27(99.4239%)","8q22.2","rs779809192","0.896:D",{"v":8.13e-06,"d":"8.13E-06"},0,"-","-"]
["A1237","Male","chr20",49509657,49509657,"G","A","Het","Dmis","Maternal_inheritance","ADNP","nonsynonymous SNV","ADNP:NM_001282532:exon4:c.1594C>T:p.R532W,ADNP:NM_181442:exon4:c.1594C>T:p.R532W,ADNP:NM_001347511:exon5:c.1594C>T:p.R532W,ADNP:NM_015339:exon5:c.1594C>T:p.R532W,ADNP:NM_001282531:exon6:c.1594C>T:p.R532W","activity-dependent neuroprotector homeobox","-1.542847722 (3.71614%)","0.9989041(5.9753%)","20q13.13","-","0.807:D","-","-","-","-"]
["A1209","Male","chr15",25616842,25616842,"A","G","Het","Dmis","Maternal_inheritance","UBE3A","nonsynonymous SNV","UBE3A:NM_130838:exon3:c.419T>C:p.L140S,UBE3A:NM_130839:exon6:c.479T>C:p.L160S,UBE3A:NM_000462:exon7:c.488T>C:p.L163S","ubiquitin protein ligase E3A","-1.333310276 (5.17481%)","0.999576244(4.9328%)","15q11.2","-","0.756:D","-","-","-","-"]
["A1197","Male","chr15",51207673,51207674,"TT","-","Het","PTV","Maternal_inheritance","AP4E1","frameshift deletion","AP4E1:NM_001252127:exon3:c.26_27del:p.L9Hfs*3,AP4E1:NM_007347:exon3:c.251_252del:p.L84Hfs*3","adaptor related protein complex 4 epsilon 1 subunit","0.152687122 (61.0095%)","0.979862099(11.7092%)","15q21.2","-","-",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
["A1813","Male","chr11",71150001,71150001,"T","A","Het","Dmis","Maternal_inheritance","DHCR7","nonsynonymous SNV","DHCR7:NM_001163817:exon7:c.755A>T:p.N252I,DHCR7:NM_001360:exon7:c.755A>T:p.N252I","7-dehydrocholesterol reductase","1.480335588 (96.0755%)","5.04E-08(86.9026%)","11q13.4","-","0.803:D","-","-","-","-"]
["A1840","Male","chr13",25480111,25480111,"A","T","Het","Dmis","Maternal_inheritance","CENPJ","nonsynonymous SNV","CENPJ:NM_018451:exon7:c.2065T>A:p.W689R","centromere protein J","0.700358238 (84.8287%)","3.03E-21(98.8697%)","13q12.12","-","0.734:D","-","-","-","-"]
["A1852","Male","chr9",138651608,138651608,"C","T","Het","Dmis","Maternal_inheritance","KCNT1","nonsynonymous SNV","KCNT1:NM_001272003:exon10:c.803C>T:p.S268F,KCNT1:NM_020822:exon11:c.938C>T:p.S313F","potassium sodium-activated channel subfamily T member 1","-1.732734355 (2.8363%)","0.005348738(57.7503%)","9q34.3","-","0.946:D","-","-","-","-"]
["A1762","Male","chr14",103410279,103410279,"G","A","Het","Dmis","Maternal_inheritance","CDC42BPB","nonsynonymous SNV","CDC42BPB:NM_006035:exon30:c.4357C>T:p.R1453W","CDC42 binding protein kinase beta","-2.618253358 (0.972447%)","1(0.4609%)","14q32.32","rs773059863","0.767:D",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
["A1855","Female","chr6",135732578,135732578,"-","AC","Het","PTV","Maternal_inheritance","AHI1","frameshift insertion","AHI1:NM_001134830:exon19:c.2868_2869insGT:p.H957Vfs*22,AHI1:NM_001134832:exon20:c.2868_2869insGT:p.H957Vfs*22,AHI1:NM_017651:exon20:c.2868_2869insGT:p.H957Vfs*22,AHI1:NM_001134831:exon21:c.2868_2869insGT:p.H957Vfs*22,AHI1:NM_001350503:exon21:c.2868_2869insGT:p.H957Vfs*22,AHI1:NM_001350504:exon21:c.2868_2869insGT:p.H957Vfs*21","Abelson helper integration site 1","0.537890382 (79.7002%)","3.26E-14(96.3621%)","6q23.3","-","-","-","-","-","-"]
["A1789","Male","chr9",139982531,139982531,"G","A","Het","PTV","Maternal_inheritance","MAN1B1","stopgain","MAN1B1:NM_016219:exon2:c.224G>A:p.W75X","mannosidase alpha class 1B member 1","-0.155810972 (39.5751%)","2.63E-06(80.6804%)","9q34.3","-","0.524:T","-","-","-","-"]
["A1789","Male","chrX",23398164,23398164,"C","T","Hemi","Dmis","Maternal_inheritance","PTCHD1","nonsynonymous SNV","PTCHD1:NM_173495:exon2:c.808C>T:p.R270C","patched domain containing 1","-1.46720751 (4.15605%)","0.947053079(14.9794%)","Xp22.11","rs745672569","0.935:D",{"v":1.12e-05,"d":"1.12E-05"},{"v":7.77e-05,"d":"7.77E-05"},"-","-"]
["A1741","Male","chr18",331728,331728,"A","G","Het","Dmis","Maternal_inheritance","COLEC12","nonsynonymous SNV","COLEC12:NM_130386:exon8:c.2003T>C:p.L668P","collectin subfamily member 12","0.441038979 (75.8046%)","0.991466233(9.5528%)","18p11.32","-","0.958:D","-","-","-","-"]
["A1942","Female","chr16",67663352,67663352,"G","A","Het","Dmis","Maternal_inheritance","CTCF","nonsynonymous SNV","CTCF:NM_001191022:exon8:c.769G>A:p.G257R,CTCF:NM_006565:exon10:c.1753G>A:p.G585R","CCCTC-binding factor","-1.477821378 (4.09238%)","0.997924958(6.9410%)","16q22.1","-","0.753:D",{"v":4.1e-06,"d":"4.10E-06"},0,"-","-"]
["A1942","Female","chr5",65349773,65349773,"T","G","Het","Dmis","Maternal_inheritance","ERBIN","nonsynonymous SNV","ERBIN:NM_001006600:exon21:c.2627T>G:p.M876R,ERBIN:NM_001253697:exon21:c.2627T>G:p.M876R,ERBIN:NM_001253698:exon21:c.2627T>G:p.M876R,ERBIN:NM_001253699:exon21:c.2627T>G:p.M876R,ERBIN:NM_001253701:exon21:c.2615T>G:p.M872R,ERBIN:NM_018695:exon21:c.2627T>G:p.M876R","erbb2 interacting protein","-","-","5q12.3","-","0.728:D","-","-","-","-"]
["A1041","Male","chr4",114254352,114254352,"G","A","Het","Dmis","Maternal_inheritance","ANK2","nonsynonymous SNV","ANK2:NM_001148:exon29:c.3367G>A:p.G1123S,ANK2:NM_020977:exon29:c.3367G>A:p.G1123S,ANK2:NM_001127493:exon31:c.3340G>A:p.G1114S","ankyrin 2, neuronal","-2.975174634 (0.706182%)","1(0.1646%)","4q26","rs138381417","0.781:D",{"v":1.22E-5,"d":"1.22E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A1004","Male","chr5",149677904,149677904,"C","T","Het","Dmis","Maternal_inheritance","ARSI","nonsynonymous SNV","ARSI:NM_001012301:exon2:c.583G>A:p.E195K","arylsulfatase family member I","-0.379955502 (27.3211%)","1.05E-09(91.0453%)","5q32","-","0.869:D",{"v":1.23e-05,"d":"1.23E-05"},0,"-","-"]
["A992","Female","chr9",88622364,88622364,"C","T","Het","Dmis","Maternal_inheritance","NAA35","nonsynonymous SNV","NAA35:NM_001321881:exon14:c.1208C>T:p.P403L,NAA35:NM_001321882:exon14:c.1208C>T:p.P403L,NAA35:NM_024635:exon14:c.1208C>T:p.P403L","N(alpha)-acetyltransferase 35, NatC auxiliary subunit","-0.198443256 (37.063%)","0.999995237(2.1728%)","9q21.33","-","0.870:D",{"v":8.13e-06,"d":"8.13E-06"},0,"-","-"]
["A992","Female","chr18",13740201,13740201,"C","T","Het","Dmis","Maternal_inheritance","RNMT","nonsynonymous SNV","RNMT:NM_001308263:exon6:c.715C>T:p.R239W,RNMT:NM_003799:exon6:c.715C>T:p.R239W","RNA (guanine-7-) methyltransferase","0.387780214 (73.4545%)","0.080932806(44.3567%)","18p11.21","rs768789789","0.962:D",{"v":8.15e-06,"d":"8.15E-06"},0,"-","-"]
["A1019","Female","chr7",82545735,82545735,"G","T","Het","Dmis","Maternal_inheritance","PCLO","nonsynonymous SNV","PCLO:NM_014510:exon7:c.11567C>A:p.P3856Q,PCLO:NM_033026:exon7:c.11567C>A:p.P3856Q","piccolo presynaptic cytomatrix protein","-2.152098952 (1.61496%)","1(0.2853%)","7q21.11","rs775679251","0.885:D",{"v":8.13e-06,"d":"8.13E-06"},1E-4,"-","-"]
["A916","Female","chr10",79741187,79741187,"T","A","Het","Dmis","Maternal_inheritance","POLR3A","nonsynonymous SNV;potential splicing","POLR3A:NM_007055:exon29:c.3890A>T:p.K1297M","-","-","7.39E-14(96.1756%)","10q22.3","-","0.917:D","-","-","-","-"]
["A946","Male","chr1",114447227,114447227,"C","T","Het","Dmis","Maternal_inheritance","AP4B1","nonsynonymous SNV;potential splicing","AP4B1:NM_001253852:exon1:c.113G>A:p.R38K,AP4B1:NM_001308312:exon1:c.113G>A:p.R38K,AP4B1:NM_006594:exon2:c.113G>A:p.R38K","-","-","2.69E-08(87.7421%)","1p13.2","-","0.398:T","-","-","-","-"]
["A961","Female","chr11",71146762,71146762,"G","A","Het","Dmis","Maternal_inheritance","DHCR7","nonsynonymous SNV","DHCR7:NM_001163817:exon9:c.1087C>T:p.R363C,DHCR7:NM_001360:exon9:c.1087C>T:p.R363C","7-dehydrocholesterol reductase","1.480335588 (96.0755%)","5.04E-08(86.9026%)","11q13.4","rs547012639","0.914:D",{"v":5.33e-05,"d":"5.33E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A955","Male","chr15",49089724,49089724,"C","T","Het","PTV","Maternal_inheritance","CEP152","stopgain","CEP152:NM_001194998:exon5:c.314G>A:p.W105X,CEP152:NM_014985:exon5:c.314G>A:p.W105X","centrosomal protein 152kDa","0.67913999 (84.1804%)","4.42E-21(98.8477%)","15q21.1","-","0.570:T",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2008","Female","chr6",131926586,131926586,"C","-","Het","PTV","Maternal_inheritance","MED23","frameshift deletion","MED23:NM_001270521:exon14:c.1407delG:p.M469Ifs*27,MED23:NM_001270522:exon14:c.1407delG:p.M469Ifs*27,MED23:NM_004830:exon14:c.1407delG:p.M469Ifs*27,MED23:NM_015979:exon15:c.1425delG:p.M475Ifs*27","mediator complex subunit 23","-1.849845213 (2.40218%)","0.150657691(40.5158%)","6q23.2","rs757330070","-",{"v":4.12e-06,"d":"4.12E-06"},{"v":5.83e-05,"d":"5.83E-05"},"-","-"]
["A2008","Female","chr6",152553324,152553324,"A","T","Het","Dmis","Maternal_inheritance","SYNE1","nonsynonymous SNV","SYNE1:NM_033071:exon112:c.20576T>A:p.I6859N,SYNE1:NM_182961:exon113:c.20789T>A:p.I6930N","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.2","-","0.781:D","-","-","-","-"]
["A2065","Female","chr8",100127943,100127943,"G","A","Het","Dmis","Maternal_inheritance","VPS13B","nonsynonymous SNV","VPS13B:NM_015243:exon7:c.778G>A:p.E260K,VPS13B:NM_017890:exon7:c.778G>A:p.E260K,VPS13B:NM_152564:exon7:c.778G>A:p.E260K,VPS13B:NM_181661:exon7:c.778G>A:p.E260K","vacuolar protein sorting 13 homolog B (yeast)","-2.877970131 (0.769854%)","9.81E-27(99.4239%)","8q22.2","-","0.773:D",{"v":4.08e-06,"d":"4.08E-06"},{"v":5.81e-05,"d":"5.81E-05"},"-","-"]
["A2065","Female","chr3",183853363,183853363,"C","G","Het","Dmis","Maternal_inheritance","EIF2B5","nonsynonymous SNV","EIF2B5:NM_003907:exon1:c.190C>G:p.P64A","eukaryotic translation initiation factor 2B subunit epsilon","-0.811079202 (12.6534%)","0.996711861(7.6379%)","3q27.1","-","0.971:D",{"v":5.11e-06,"d":"5.11E-06"},{"v":7.23e-05,"d":"7.23E-05"},"-","-"]
["A2065","Female","chr9",138670667,138670667,"C","T","Het","Dmis","Maternal_inheritance","KCNT1","nonsynonymous SNV;potential splicing","KCNT1:NM_001272003:exon22:c.2593C>T:p.R865W,KCNT1:NM_020822:exon23:c.2728C>T:p.R910W","-","-","0.005348738(57.7503%)","9q34.3","-","0.918:D",{"v":4.07E-6,"d":"4.07E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2017","Female","chr17",60061601,60061601,"C","T","Het","Dmis","Maternal_inheritance","MED13","nonsynonymous SNV","MED13:NM_005121:exon15:c.2819G>A:p.R940H","mediator complex subunit 13","-2.759416599 (0.85668%)","1(0.3512%)","17q23.2","rs767314131","0.878:D",{"v":1.65e-05,"d":"1.65E-05"},1E-4,"-","-"]
["A2020","Male","chr4",128819595,128819595,"T","C","Het","Dmis","Maternal_inheritance","PLK4","nonsynonymous SNV;potential splicing","PLK4:NM_001190799:exon15:c.2716T>C:p.Y906H,PLK4:NM_001190801:exon16:c.2689T>C:p.Y897H,PLK4:NM_014264:exon16:c.2812T>C:p.Y938H","-","-","0.777981749(22.2936%)","4q28.2","-","0.495:T","-","-","-","-"]
["A2149","Male","chr7",82545147,82545147,"A","G","Het","Dmis","Maternal_inheritance","PCLO","nonsynonymous SNV","PCLO:NM_014510:exon7:c.12155T>C:p.I4052T,PCLO:NM_033026:exon7:c.12155T>C:p.I4052T","piccolo presynaptic cytomatrix protein","-2.152098952 (1.61496%)","1(0.2853%)","7q21.11","rs374672016","0.849:D",{"v":1.22E-5,"d":"1.22E-05"},{"v":5.85e-05,"d":"5.85E-05"},"-","-"]
["A2041","Male","chr7",147869558,147869558,"T","C","Het","Dmis","Maternal_inheritance","CNTNAP2","nonsynonymous SNV","CNTNAP2:NM_014141:exon18:c.2998T>C:p.F1000L","contactin associated protein-like 2","-0.135838044 (40.9065%)","3.83E-05(74.5569%)","7q35","-","0.810:D","-","-","-","-"]
["A2146","Male","chr15",85197490,85197490,"C","A","Het","Dmis","Maternal_inheritance","WDR73","nonsynonymous SNV","WDR73:NM_032856:exon1:c.16G>T:p.D6Y","WD repeat domain 73","0.083031743 (56.2399%)","7.90E-06(78.6063%)","15q25.2","rs757624021","0.757:D",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
["A2200","Female","chr5",149681741,149681741,"C","A","Het","Dmis","Maternal_inheritance","ARSI","nonsynonymous SNV","ARSI:NM_001012301:exon1:c.196G>T:p.G66C","arylsulfatase family member I","-0.379955502 (27.3211%)","1.05E-09(91.0453%)","5q32","-","0.989:D",{"v":4.08e-06,"d":"4.08E-06"},{"v":5.81e-05,"d":"5.81E-05"},"-","-"]
["A2188","Male","chr3",123047642,123047642,"G","A","Het","Dmis","Maternal_inheritance","ADCY5","nonsynonymous SNV","ADCY5:NM_001199642:exon6:c.604C>T:p.R202W,ADCY5:NM_183357:exon6:c.1654C>T:p.R552W","adenylate cyclase 5","-2.187243441 (1.5455%)","0.989940592(9.9150%)","3q21.1","-","0.980:D","-","-","-","-"]
["A2413","Male","chr1",89270542,89270542,"A","T","Het","Dmis","Maternal_inheritance","PKN2","nonsynonymous SNV","PKN2:NM_001320707:exon9:c.1295A>T:p.N432I,PKN2:NM_001320708:exon9:c.968A>T:p.N323I,PKN2:NM_001320709:exon10:c.1391A>T:p.N464I,PKN2:NM_006256:exon10:c.1439A>T:p.N480I","protein kinase N2","-0.309194691 (30.9678%)","0.999995223(2.1783%)","1p22.2","-","0.843:D","-","-","-","-"]
["A2410","Female","chr8",126056071,126056071,"A","G","Het","Dmis","Maternal_inheritance","WASHC5","nonsynonymous SNV","WASHC5:NM_001330609:exon22:c.2402T>C:p.M801T,WASHC5:NM_014846:exon23:c.2846T>C:p.M949T","-","-","-","8q24.13","-","0.943:D","-","-",{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["A2377","Female","chr2",167099026,167099026,"T","C","Het","Dmis","Maternal_inheritance","SCN9A","nonsynonymous SNV","SCN9A:NM_002977:exon19:c.3580A>G:p.S1194G","sodium voltage-gated channel alpha subunit 9","0.192209185 (63.3422%)","9.30E-13(95.2483%)","2q24.3","-","0.943:D",0,{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["A2374","Female","chr14",31542127,31542127,"A","G","Het","Dmis","Maternal_inheritance","AP4S1","nonsynonymous SNV","AP4S1:NM_001128126:exon4:c.242A>G:p.Y81C,AP4S1:NM_001254726:exon4:c.242A>G:p.Y81C,AP4S1:NM_001254727:exon4:c.242A>G:p.Y81C,AP4S1:NM_001254728:exon4:c.242A>G:p.Y81C,AP4S1:NM_001254729:exon4:c.242A>G:p.Y81C,AP4S1:NM_007077:exon4:c.242A>G:p.Y81C","adaptor related protein complex 4 sigma 1 subunit","0.304375634 (69.3795%)","1.34E-07(85.7064%)","14q12","-","0.779:D","-","-","-","-"]
["A2458","Male","chr3",9486890,9486890,"T","G","Het","Dmis","Maternal_inheritance","SETD5","nonsynonymous SNV","SETD5:NM_001080517:exon12:c.1346T>G:p.L449R,SETD5:NM_001292043:exon14:c.1052T>G:p.L351R,SETD5:NM_001349451:exon15:c.1052T>G:p.L351R","SET domain containing 5","-1.538517197 (3.74508%)","0.999999564(1.4211%)","3p25.3","-","0.850:D","-","-","-","-"]
["A2658","Male","chr4",140272395,140272395,"C","T","Het","Dmis","Maternal_inheritance","NAA15","nonsynonymous SNV","NAA15:NM_057175:exon8:c.862C>T:p.P288S","N(alpha)-acetyltransferase 15, NatA auxiliary subunit","-0.954010846 (9.79972%)","0.99857684(6.3594%)","4q31.1","-","0.831:D","-","-","-","-"]
["A2537","Male","chr14",30066768,30066768,"T","G","Het","Dmis","Maternal_inheritance","PRKD1","nonsynonymous SNV","PRKD1:NM_002742:exon16:c.2363A>C:p.D788A,PRKD1:NM_001330069:exon17:c.2387A>C:p.D796A,PRKD1:NM_001348390:exon17:c.2099A>C:p.D700A","protein kinase D1","-0.417601543 (25.3936%)","2.13E-05(76.0219%)","14q12","-","0.901:D","-","-","-","-"]
["A2628","Male","chr20",61981703,61981703,"G","A","Het","Dmis","Maternal_inheritance","CHRNA4","nonsynonymous SNV","CHRNA4:NM_000744:exon5:c.1060C>T:p.R354C,CHRNA4:NM_001256573:exon5:c.532C>T:p.R178C","cholinergic receptor nicotinic alpha 4 subunit","-1.283796674 (5.63209%)","0.020867888(51.3580%)","20q13.33","rs758534439","0.957:D",{"v":1.63E-5,"d":"1.63E-05"},0,"-","-"]
["A2470","Male","chr11",101323744,101323744,"-","T","Het","PTV","Maternal_inheritance","TRPC6","frameshift insertion","TRPC6:NM_004621:exon13:c.2737dupA:p.I913Nfs*1","transient receptor potential cation channel subfamily C member 6","-1.353000782 (5.01273%)","0.004564105(58.5460%)","11q22.1","-","-","-","-","-","-"]
["A2479","Female","chr1",155447834,155447834,"A","C","Het","Dmis","Maternal_inheritance","ASH1L","nonsynonymous SNV","ASH1L:NM_018489:exon3:c.4827T>G:p.S1609R","ash1 (absent, small, or homeotic)-like (Drosophila)","-3.88480184 (0.312572%)","1(0.1591%)","1q22","rs763693444","0.839:D",{"v":8.13e-06,"d":"8.13E-06"},0,"-","-"]
["A2649","Female","chr1",175336350,175336350,"T","C","Het","Dmis","Maternal_inheritance","TNR","nonsynonymous SNV","TNR:NM_001328635:exon10:c.1048A>G:p.R350G,TNR:NM_003285:exon10:c.2047A>G:p.R683G","tenascin R","-0.089910353 (44.148%)","0.987762732(10.4088%)","1q25.1","-","0.817:D","-","-","-","-"]
["A2643","Female","chr16",1267982,1267983,"TG","-","Het","PTV","Maternal_inheritance","CACNA1H","frameshift deletion","CACNA1H:NM_001005407:exon31:c.5369_5370del:p.M1790Sfs*27,CACNA1H:NM_021098:exon32:c.5387_5388del:p.M1796Sfs*27","calcium voltage-gated channel subunit alpha1 H","-0.405302435 (26.0998%)","0.755916976(22.9081%)","16p13.3","-","-","-","-","-","-"]
["A2540","Female","chr9",131380365,131380365,"C","G","Het","Dmis","Maternal_inheritance","SPTAN1","nonsynonymous SNV","SPTAN1:NM_001195532:exon41:c.5503C>G:p.L1835V,SPTAN1:NM_003127:exon42:c.5563C>G:p.L1855V,SPTAN1:NM_001130438:exon43:c.5578C>G:p.L1860V","spectrin alpha, non-erythrocytic 1","-4.04482939 (0.272054%)","1(0.1756%)","9q34.11","-","0.865:D","-","-","-","-"]
["A2540","Female","chr3",4693880,4693880,"C","T","Het","Dmis","Maternal_inheritance","ITPR1","nonsynonymous SNV","ITPR1:NM_001099952:exon11:c.929C>T:p.T310M,ITPR1:NM_001168272:exon11:c.929C>T:p.T310M,ITPR1:NM_002222:exon11:c.929C>T:p.T310M","inositol 1,4,5-trisphosphate receptor type 1","-4.625568658 (0.138921%)","1(0.2689%)","3p26.1","rs201693219","0.999:D",{"v":3.71e-05,"d":"3.71E-05"},{"v":1E-4,"d":"1.00E-04"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["A2492","Male","chr15",85186738,85186738,"T","C","Het","Dmis","Maternal_inheritance","WDR73","nonsynonymous SNV","WDR73:NM_032856:exon8:c.1100A>G:p.H367R","WD repeat domain 73","0.083031743 (56.2399%)","7.90E-06(78.6063%)","15q25.2","-","0.725:D",{"v":5.31E-6,"d":"5.31E-06"},0,"-","-"]
["A2492","Male","chr1",98058830,98058830,"G","A","Het","Dmis","Maternal_inheritance","DPYD","nonsynonymous SNV","DPYD:NM_000110:exon10:c.1072C>T:p.R358C","dihydropyrimidine dehydrogenase","0.56272734 (80.6437%)","4.19E-09(89.7284%)","1p21.3","rs779557503","0.776:D",{"v":8.12e-06,"d":"8.12E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2504","Male","chr15",64047490,64047490,"C","G","Het","Dmis","Maternal_inheritance","HERC1","nonsynonymous SNV","HERC1:NM_003922:exon6:c.1568G>C:p.S523T","HECT and RLD domain containing E3 ubiquitin protein ligase family member 1","-6.429196083 (0.0578838%)","1(0.2359%)","15q22.31","-","0.875:D","-","-","-","-"]
["A2722","Male","chr7",103194141,103194141,"C","T","Het","Dmis","Maternal_inheritance","RELN","nonsynonymous SNV","RELN:NM_005045:exon39:c.5935G>A:p.G1979S,RELN:NM_173054:exon39:c.5935G>A:p.G1979S","reelin","-1.431203386 (4.36444%)","1(0.0823%)","7q22.1","rs139892362","0.715:D",{"v":3.25e-05,"d":"3.25E-05"},0,"-","-"]
["A2722","Male","chr9",140672497,140672497,"G","T","Het","Dmis","Maternal_inheritance","EHMT1","nonsynonymous SNV","EHMT1:NM_001145527:exon13:c.2182G>T:p.D728Y,EHMT1:NM_024757:exon13:c.2182G>T:p.D728Y","euchromatic histone-lysine N-methyltransferase 1","-2.086730518 (1.73072%)","0.999999904(1.0809%)","9q34.3","-","0.896:D","-","-","-","-"]
["A2728","Female","chr2",233655776,233655776,"A","G","Het","Dmis","Maternal_inheritance","GIGYF2","nonsynonymous SNV","GIGYF2:NM_001103148:exon10:c.971A>G:p.E324G,GIGYF2:NM_001103146:exon11:c.989A>G:p.E330G,GIGYF2:NM_001103147:exon13:c.1055A>G:p.E352G,GIGYF2:NM_015575:exon13:c.989A>G:p.E330G","GRB10 interacting GYF protein 2","-0.561478054 (19.6226%)","1(0.2908%)","2q37.1","rs1027680344","0.801:D","-","-","-","-"]
["A2725","Female","chr3",53760960,53760960,"G","A","Het","Dmis","Maternal_inheritance","CACNA1D","nonsynonymous SNV","CACNA1D:NM_001128839:exon15:c.2155G>A:p.G719R,CACNA1D:NM_001128840:exon15:c.2155G>A:p.G719R,CACNA1D:NM_000720:exon16:c.2215G>A:p.G739R","calcium voltage-gated channel subunit alpha1 D","-3.707735568 (0.382033%)","1(0.2798%)","3p21.1","-","0.983:D","-","-","-","-"]
["A2737","Male","chr17",76554218,76554218,"A","G","Het","Dmis","Maternal_inheritance","DNAH17","nonsynonymous SNV","DNAH17:NM_173628:exon14:c.2150T>C:p.L717P","dynein axonemal heavy chain 17","-","-","17q25.3","rs752190818","0.980:D",{"v":4.07E-6,"d":"4.07E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2740","Male","chr11",67926134,67926134,"-","T","Het","PTV","Maternal_inheritance","KMT5B","frameshift insertion","KMT5B:NM_001300908:exon11:c.958dupA:p.T320Nfs*5,KMT5B:NM_017635:exon11:c.1678dupA:p.T560Nfs*5,KMT5B:NM_001300907:exon12:c.1162dupA:p.T388Nfs*5","lysine methyltransferase 5B","-","-","11q13.2","-","-","-","-","-","-"]
["A2743","Male","chr8",65528433,65528434,"TT","-","Het","PTV","Maternal_inheritance","CYP7B1","frameshift deletion","CYP7B1:NM_001324112:exon3:c.664_665del:p.K222Vfs*10,CYP7B1:NM_004820:exon3:c.664_665del:p.K222Vfs*10","cytochrome P450 family 7 subfamily B member 1","-1.011184923 (8.89095%)","2.14E-06(81.1413%)","8q12.3","-","-","-","-","-","-"]
["A2755","Male","chr10",387196,387196,"A","G","Het","Dmis","Maternal_inheritance","DIP2C","nonsynonymous SNV","DIP2C:NM_014974:exon29:c.3527T>C:p.V1176A","disco interacting protein 2 homolog C","-4.462072989 (0.156286%)","0.999999838(1.1578%)","10p15.3","-","0.762:D","-","-","-","-"]
["A2755","Male","chr14",77493477,77493477,"G","T","Het","PTV","Maternal_inheritance","IRF2BPL","stopgain","IRF2BPL:NM_024496:exon1:c.659C>A:p.S220X","interferon regulatory factor 2 binding protein-like","-0.981195785 (9.33665%)","0.968935346(13.0864%)","14q24.3","-","0.465:T","-","-","-","-"]
["A2755","Male","chr13",25487062,25487062,"T","-","Het","PTV","Maternal_inheritance","CENPJ","frameshift deletion","CENPJ:NM_018451:exon2:c.102delA:p.P36Lfs*31","centromere protein J","0.700358238 (84.8287%)","3.03E-21(98.8697%)","13q12.12","-","-","-","-","-","-"]
["A2761","Female","chr16",78466528,78466528,"C","T","Het","Dmis","Maternal_inheritance","WWOX","nonsynonymous SNV","WWOX:NM_001291997:exon7:c.596C>T:p.S199F,WWOX:NM_016373:exon8:c.935C>T:p.S312F","WW domain containing oxidoreductase","2.097512386 (98.4256%)","1.94E-08(88.1372%)","16q23.1","rs79399971","0.911:D",1E-4,0,"-","-"]
["A2764","Female","chr2",44161980,44161980,"A","G","Het","Dmis","Maternal_inheritance","LRPPRC","nonsynonymous SNV","LRPPRC:NM_133259:exon24:c.2542T>C:p.C848R","leucine rich pentatricopeptide repeat containing","-1.975309129 (2.06066%)","0.000433778(67.4458%)","2p21","-","0.841:D","-","-","-","-"]
["A2773","Male","chr2",236949405,236949405,"C","T","Het","Dmis","Maternal_inheritance","AGAP1","nonsynonymous SNV","AGAP1:NM_014914:exon14:c.1652C>T:p.T551M,AGAP1:NM_001037131:exon15:c.1811C>T:p.T604M","ArfGAP with GTPase domain, ankyrin repeat and PH domain 1","-0.949823197 (9.87497%)","0.999356436(5.3882%)","2q37.2","rs1031246125","0.722:D",{"v":8.12e-06,"d":"8.12E-06"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A2773","Male","chr8",27327375,27327375,"A","C","Het","Dmis","Maternal_inheritance","CHRNA2","nonsynonymous SNV","CHRNA2:NM_000742:exon3:c.197T>G:p.L66R,CHRNA2:NM_001282455:exon3:c.197T>G:p.L66R","cholinergic receptor nicotinic alpha 2 subunit","-1.014313559 (8.83885%)","0.001766479(62.3429%)","8p21.2","-","0.979:D","-","-","-","-"]
["A2782","Male","chr8",100829823,100829823,"-","A","Het","PTV","Maternal_inheritance","VPS13B","frameshift insertion","VPS13B:NM_017890:exon45:c.8229dupA:p.V2745Sfs*18,VPS13B:NM_152564:exon45:c.8154dupA:p.V2720Sfs*18","vacuolar protein sorting 13 homolog B (yeast)","-2.877970131 (0.769854%)","9.81E-27(99.4239%)","8q22.2","-","-","-","-","-","-"]
["A2788","Female","chr1",44395825,44395825,"C","T","Het","PTV","Maternal_inheritance","ST3GAL3","stopgain","ST3GAL3:NM_001270462:exon8:c.625C>T:p.R209X,ST3GAL3:NM_001270461:exon9:c.718C>T:p.R240X,ST3GAL3:NM_174966:exon10:c.766C>T:p.R256X,ST3GAL3:NM_001270460:exon11:c.967C>T:p.R323X,ST3GAL3:NM_174969:exon11:c.1012C>T:p.R338X,ST3GAL3:NM_001270459:exon12:c.970C>T:p.R324X,ST3GAL3:NM_006279:exon12:c.1060C>T:p.R354X,ST3GAL3:NM_174964:exon12:c.1105C>T:p.R369X,ST3GAL3:NM_174971:exon12:c.1174C>T:p.R392X,ST3GAL3:NM_174963:exon13:c.1267C>T:p.R423X,ST3GAL3:NM_174968:exon13:c.1222C>T:p.R408X","ST3 beta-galactoside alpha-2,3-sialyltransferase 3","-0.375263119 (27.599%)","0.573989459(28.0988%)","1p34.1","rs758301958","0.685:T",{"v":1.63E-5,"d":"1.63E-05"},0,"-","-"]
["A2791","Male","chr1",100575950,100575950,"T","G","Het","Dmis","Maternal_inheritance","SASS6","nonsynonymous SNV","SASS6:NM_001304829:exon7:c.258A>C:p.R86S,SASS6:NM_194292:exon8:c.759A>C:p.R253S","SAS-6 centriolar assembly protein","-0.558960442 (19.6921%)","5.00E-05(73.8381%)","1p21.2","-","0.820:D","-","-","-","-"]
["A2794","Male","chr22",18905959,18905959,"C","A","Het","PTV","Maternal_inheritance","PRODH","stopgain","PRODH:NM_001195226:exon11:c.973G>T:p.E325X,PRODH:NM_016335:exon12:c.1297G>T:p.E433X","proline dehydrogenase (oxidase) 1","1.433781382 (95.8092%)","4.75E-06(79.5775%)","22q11.21","-","0.670:T","-","-","-","-"]
["A2821","Male","chr2",44116886,44116886,"A","-","Het","PTV","Maternal_inheritance","LRPPRC","frameshift deletion","LRPPRC:NM_133259:exon37:c.4115delT:p.F1372Sfs*12","leucine rich pentatricopeptide repeat containing","-1.975309129 (2.06066%)","0.000433778(67.4458%)","2p21","-","-","-","-","-","-"]
["A2821","Male","chr3",3196451,3196451,"G","T","Het","Dmis","Maternal_inheritance","CRBN","nonsynonymous SNV","CRBN:NM_001173482:exon7:c.812C>A:p.S271Y,CRBN:NM_016302:exon7:c.815C>A:p.S272Y","cereblon","-0.664241423 (16.4448%)","0.038494438(48.4664%)","3p26.2","-","0.770:D","-","-","-","-"]
["A2842","Male","chr20",49509848,49509848,"T","A","Het","Dmis","Maternal_inheritance","ADNP","nonsynonymous SNV","ADNP:NM_001282532:exon4:c.1403A>T:p.E468V,ADNP:NM_181442:exon4:c.1403A>T:p.E468V,ADNP:NM_001347511:exon5:c.1403A>T:p.E468V,ADNP:NM_015339:exon5:c.1403A>T:p.E468V,ADNP:NM_001282531:exon6:c.1403A>T:p.E468V","activity-dependent neuroprotector homeobox","-1.542847722 (3.71614%)","0.9989041(5.9753%)","20q13.13","-","0.816:D","-","-","-","-"]
["A2674","Female","chr2",167136979,167136979,"G","C","Het","Dmis","Maternal_inheritance","SCN9A","nonsynonymous SNV","SCN9A:NM_002977:exon14:c.2198C>G:p.P733R","sodium voltage-gated channel alpha subunit 9","0.192209185 (63.3422%)","9.30E-13(95.2483%)","2q24.3","-","0.971:D","-","-","-","-"]
["A2683","Male","chr9",131388815,131388815,"G","A","Het","Dmis","Maternal_inheritance","SPTAN1","nonsynonymous SNV","SPTAN1:NM_001195532:exon47:c.6350G>A:p.R2117H,SPTAN1:NM_003127:exon48:c.6410G>A:p.R2137H,SPTAN1:NM_001130438:exon49:c.6425G>A:p.R2142H","spectrin alpha, non-erythrocytic 1","-4.04482939 (0.272054%)","1(0.1756%)","9q34.11","rs796053324","0.769:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
["A2707","Male","chr19",9453308,9453311,"CTTC","-","Het","PTV","Maternal_inheritance","ZNF559","frameshift deletion","ZNF559:NM_001202406:exon6:c.1373_1376del:p.S459Lfs*9,ZNF559:NM_001202407:exon6:c.1055_1058del:p.S353Lfs*9,ZNF559:NM_032497:exon7:c.1181_1184del:p.S395Lfs*9","zinc finger protein 559","1.572200403 (96.6022%)","7.72E-09(89.1852%)","19p13.2","-","-",{"v":8.13e-06,"d":"8.13E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2716","Male","chr1",175348814,175348814,"C","T","Het","Dmis","Maternal_inheritance","TNR","nonsynonymous SNV","TNR:NM_001328635:exon9:c.838G>A:p.E280K,TNR:NM_003285:exon9:c.1837G>A:p.E613K","tenascin R","-0.089910353 (44.148%)","0.987762732(10.4088%)","1q25.1","rs775359615","0.737:D",{"v":3.66e-05,"d":"3.66E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A2716","Male","chr1",197060039,197060039,"G","A","Het","Dmis","Maternal_inheritance","ASPM","nonsynonymous SNV","ASPM:NM_001206846:exon22:c.4822C>T:p.R1608C,ASPM:NM_018136:exon23:c.9577C>T:p.R3193C","abnormal spindle microtubule assembly","0.345649059 (71.4459%)","6.16E-26(99.3690%)","1q31.3","rs140679756","0.776:D",{"v":2.85e-05,"d":"2.85E-05"},{"v":0,"d":"0.00E+00"},{"v":9.71e-05,"d":"9.71E-05"},0]
["A906","Female","chr5",170598221,170598221,"T","G","Het","Dmis","Maternal_inheritance","RANBP17","nonsynonymous SNV","RANBP17:NM_022897:exon16:c.1796T>G:p.L599R","RAN binding protein 17","0.062242183 (54.758%)","8.61E-36(99.7970%)","5q35.1","-","0.920:D","-","-","-","-"]
["A52","Male","chr7",147964197,147964197,"C","T","Het","Dmis","Maternal_inheritance","CNTNAP2","nonsynonymous SNV","CNTNAP2:NM_014141:exon21:c.3454C>T:p.L1152F","contactin associated protein-like 2","-0.135838044 (40.9065%)","3.83E-05(74.5569%)","7q36.1","-","0.869:D","-","-","-","-"]
["A2894","Male","chr8",126062855,126062855,"C","T","Het","Dmis","Maternal_inheritance","WASHC5","nonsynonymous SNV","WASHC5:NM_001330609:exon17:c.1706G>A:p.R569H,WASHC5:NM_014846:exon18:c.2150G>A:p.R717H","-","-","-","8q24.13","rs918985491","0.825:D","-","-","-","-"]
["A2925","Female","chr8",65528573,65528573,"C","G","Het","Dmis","Maternal_inheritance","CYP7B1","nonsynonymous SNV","CYP7B1:NM_001324112:exon3:c.525G>C:p.W175C,CYP7B1:NM_004820:exon3:c.525G>C:p.W175C","cytochrome P450 family 7 subfamily B member 1","-1.011184923 (8.89095%)","2.14E-06(81.1413%)","8q12.3","rs794727501","0.840:D","-","-","-","-"]
["A2971","Male","chr1",220195707,220195707,"C","T","Het","Dmis","Maternal_inheritance","EPRS","nonsynonymous SNV","EPRS:NM_004446:exon9:c.1097G>A:p.R366K","glutamyl-prolyl-tRNA synthetase","-1.756786213 (2.7379%)","3.85E-07(84.0713%)","1q41","-","0.718:D","-","-","-","-"]
["A2986","Male","chr7",140494187,140494187,"C","T","Het","Dmis","Maternal_inheritance","BRAF","nonsynonymous SNV","BRAF:NM_004333:exon8:c.1061G>A:p.R354Q","B-Raf proto-oncogene, serine/threonine kinase","-0.965257977 (9.62607%)","0.999978196(2.8258%)","7q34","-","0.811:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
["A2992","Male","chr21",41560977,41560977,"T","C","Het","Dmis","Maternal_inheritance","DSCAM","nonsynonymous SNV","DSCAM:NM_001271534:exon12:c.2545A>G:p.T849A,DSCAM:NM_001389:exon12:c.2545A>G:p.T849A","Down syndrome cell adhesion molecule","-4.387829485 (0.185228%)","1(0.4225%)","21q22.2","rs767057153","0.904:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A3001","Male","chr10",76732349,76732349,"A","G","Het","Dmis","Maternal_inheritance","KAT6B","nonsynonymous SNV","KAT6B:NM_001256468:exon7:c.1013A>G:p.Y338C,KAT6B:NM_001256469:exon7:c.1013A>G:p.Y338C,KAT6B:NM_012330:exon7:c.1013A>G:p.Y338C","lysine acetyltransferase 6B","-3.45154577 (0.468859%)","0.999999923(1.0370%)","10q22.2","-","0.867:D","-","-","-","-"]
["A3001","Male","chr1",202718195,202718195,"T","A","Het","Dmis","Maternal_inheritance","KDM5B","nonsynonymous SNV","KDM5B:NM_001347591:exon13:c.1759A>T:p.M587L,KDM5B:NM_006618:exon14:c.1894A>T:p.M632L,KDM5B:NM_001314042:exon15:c.2002A>T:p.M668L","lysine demethylase 5B","-2.302644968 (1.34869%)","5.09E-05(73.7723%)","1q32.1","-","0.702:D","-","-","-","-"]
["A3004","Male","chr8",131848658,131848658,"C","T","Het","Dmis","Maternal_inheritance","ADCY8","nonsynonymous SNV","ADCY8:NM_001115:exon12:c.2540G>A:p.C847Y","adenylate cyclase 8 (brain)","-1.761902552 (2.71475%)","0.002985662(60.2853%)","8q24.22","-","0.970:D","-","-","-","-"]
["A3007","Male","chr7",104748334,104748334,"G","A","Het","Dmis","Maternal_inheritance","KMT2E","nonsynonymous SNV","KMT2E:NM_018682:exon21:c.3430G>A:p.G1144R,KMT2E:NM_182931:exon22:c.3430G>A:p.G1144R","lysine methyltransferase 2E","-3.121618628 (0.613568%)","0.999999995(0.6859%)","7q22.3","rs747051315","0.814:D",{"v":4.07E-6,"d":"4.07E-06"},{"v":5.81e-05,"d":"5.81E-05"},"-","-"]
["A3010","Male","chr5",149678005,149678005,"C","T","Het","Dmis","Maternal_inheritance","ARSI","nonsynonymous SNV","ARSI:NM_001012301:exon2:c.482G>A:p.R161H","arylsulfatase family member I","-0.379955502 (27.3211%)","1.05E-09(91.0453%)","5q32","rs142729073","0.882:D",{"v":4.48e-05,"d":"4.48E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A3013","Male","chrX",62893983,62893983,"G","A","Hemi","Dmis","Maternal_inheritance","ARHGEF9","nonsynonymous SNV","ARHGEF9:NM_001173479:exon5:c.700C>T:p.R234C,ARHGEF9:NM_001173480:exon5:c.553C>T:p.R185C,ARHGEF9:NM_015185:exon6:c.859C>T:p.R287C,ARHGEF9:NM_001330495:exon7:c.796C>T:p.R266C","Cdc42 guanine nucleotide exchange factor 9","0.341261405 (71.226%)","0.983065394(11.2099%)","Xq11.1","-","0.826:D","-","-","-","-"]
["A3019","Male","chr21",41719644,41719644,"C","A","Het","Dmis","Maternal_inheritance","DSCAM","nonsynonymous SNV","DSCAM:NM_001271534:exon6:c.1163G>T:p.R388L,DSCAM:NM_001389:exon6:c.1163G>T:p.R388L","Down syndrome cell adhesion molecule","-4.387829485 (0.185228%)","1(0.4225%)","21q22.2","rs369481071","0.940:D",{"v":1.63E-5,"d":"1.63E-05"},{"v":5.8E-5,"d":"5.80E-05"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["A3019","Male","chr17",60023885,60023885,"G","A","Het","Dmis","Maternal_inheritance","MED13","nonsynonymous SNV","MED13:NM_005121:exon30:c.6469C>T:p.P2157S","mediator complex subunit 13","-2.759416599 (0.85668%)","1(0.3512%)","17q23.2","-","0.974:D","-","-","-","-"]
["A3022","Male","chr12",133324572,133324572,"G","C","Het","Dmis","Maternal_inheritance","ANKLE2","nonsynonymous SNV","ANKLE2:NM_015114:exon5:c.1076C>G:p.A359G","ankyrin repeat and LEM domain containing 2","-0.157376219 (39.4652%)","7.47E-07(83.0069%)","12q24.33","-","0.815:D","-","-","-","-"]
["A3040","Male","chr7",27135042,27135042,"A","G","Het","Dmis","Maternal_inheritance","HOXA1","nonsynonymous SNV","HOXA1:NM_005522:exon1:c.490T>C:p.Y164H","homeobox A1","-0.267639601 (33.1269%)","0.084987363(44.0439%)","7p15.2","rs764310205","0.724:D",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
["A3040","Male","chr3",3076351,3076351,"G","A","Het","Dmis","Maternal_inheritance","CNTN4","nonsynonymous SNV","CNTN4:NM_001206956:exon8:c.832G>A:p.E278K,CNTN4:NM_175613:exon8:c.835G>A:p.E279K,CNTN4:NM_001206955:exon16:c.1819G>A:p.E607K,CNTN4:NM_001350095:exon17:c.1819G>A:p.E607K,CNTN4:NM_175607:exon17:c.1819G>A:p.E607K","contactin 4","-0.517119498 (21.0986%)","0.996606388(7.6872%)","3p26.2","rs374090181","0.876:D",{"v":2.44E-5,"d":"2.44E-05"},0,"-","-"]
["A3055","Male","chr15",63916363,63916363,"G","A","Het","Dmis","Maternal_inheritance","HERC1","nonsynonymous SNV","HERC1:NM_003922:exon72:c.13439C>T:p.S4480L","HECT and RLD domain containing E3 ubiquitin protein ligase family member 1","-6.429196083 (0.0578838%)","1(0.2359%)","15q22.31","-","0.747:D","-","-","-","-"]
["A3055","Male","chr21",35147357,35147357,"A","T","Het","Dmis","Maternal_inheritance","ITSN1","nonsynonymous SNV","ITSN1:NM_001001132:exon14:c.1541A>T:p.N514I,ITSN1:NM_001331008:exon14:c.1541A>T:p.N514I,ITSN1:NM_001331009:exon14:c.1541A>T:p.N514I,ITSN1:NM_001331010:exon14:c.1541A>T:p.N514I,ITSN1:NM_001331011:exon14:c.1541A>T:p.N514I,ITSN1:NM_001331012:exon14:c.1430A>T:p.N477I,ITSN1:NM_003024:exon14:c.1541A>T:p.N514I","intersectin 1","-2.89301104 (0.758277%)","0.999999974(0.8724%)","21q22.11","rs777811798","0.780:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A3058","Male","chr9",742206,742206,"C","T","Het","Dmis","Maternal_inheritance","KANK1","nonsynonymous SNV;potential splicing","KANK1:NM_153186:exon9:c.3224C>T:p.A1075V,KANK1:NM_015158:exon10:c.3698C>T:p.A1233V,KANK1:NM_001256877:exon11:c.3698C>T:p.A1233V,KANK1:NM_001256876:exon14:c.3698C>T:p.A1233V","-","-","-","9p24.3","rs201913622","0.631:T",{"v":2.45e-05,"d":"2.45E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["A3058","Male","chr6",79680592,79680592,"C","T","Het","Dmis","Maternal_inheritance","PHIP","nonsynonymous SNV","PHIP:NM_017934:exon25:c.2903G>A:p.R968Q","pleckstrin homology domain interacting protein","-2.790384398 (0.827738%)","0.999999948(0.9492%)","6q14.1","rs747676400","0.812:D",{"v":4.2e-06,"d":"4.20E-06"},0,"-","-"]
["A3070","Female","chr2",206037034,206037034,"A","G","Het","Dmis","Maternal_inheritance","PARD3B","nonsynonymous SNV","PARD3B:NM_152526:exon11:c.1534A>G:p.M512V,PARD3B:NM_001302769:exon12:c.1720A>G:p.M574V,PARD3B:NM_057177:exon12:c.1720A>G:p.M574V,PARD3B:NM_205863:exon12:c.1720A>G:p.M574V","par-3 family cell polarity regulator beta","0.394809114 (73.7902%)","8.65E-08(86.2387%)","2q33.3","rs772124997","0.802:D",{"v":2.03e-05,"d":"2.03E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A3070","Female","chr4",114251544,114251544,"G","A","Het","Dmis","Maternal_inheritance","ANK2","nonsynonymous SNV","ANK2:NM_001148:exon27:c.3043G>A:p.A1015T,ANK2:NM_020977:exon27:c.3043G>A:p.A1015T,ANK2:NM_001127493:exon29:c.3016G>A:p.A1006T","ankyrin 2, neuronal","-2.975174634 (0.706182%)","1(0.1646%)","4q26","-","0.854:D","-","-","-","-"]
["A3073","Male","chr8",41834576,41834576,"C","T","Het","Dmis","Maternal_inheritance","KAT6A","nonsynonymous SNV","KAT6A:NM_001305878:exon7:c.1313G>A:p.R438Q,KAT6A:NM_006766:exon7:c.1313G>A:p.R438Q","lysine acetyltransferase 6A","-1.760216882 (2.72054%)","0.999999985(0.8011%)","8p11.21","-","0.706:D",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
["A3079","Male","chr2",149247544,149247544,"T","G","Het","Dmis","Maternal_inheritance","MBD5","nonsynonymous SNV","MBD5:NM_018328:exon12:c.3644T>G:p.F1215C","methyl-CpG binding domain protein 5","-1.988685078 (2.00857%)","0.999852333(4.0604%)","2q23.1","-","0.713:D","-","-","-","-"]
["A3082","Male","chr7",82584426,82584426,"C","T","Het","Dmis","Maternal_inheritance","PCLO","nonsynonymous SNV","PCLO:NM_014510:exon5:c.5843G>A:p.G1948D,PCLO:NM_033026:exon5:c.5843G>A:p.G1948D","piccolo presynaptic cytomatrix protein","-2.152098952 (1.61496%)","1(0.2853%)","7q21.11","-","0.867:D","-","-","-","-"]
["A3082","Male","chr2",149247544,149247544,"T","G","Het","Dmis","Maternal_inheritance","MBD5","nonsynonymous SNV","MBD5:NM_018328:exon12:c.3644T>G:p.F1215C","methyl-CpG binding domain protein 5","-1.988685078 (2.00857%)","0.999852333(4.0604%)","2q23.1","-","0.713:D","-","-","-","-"]
["A3088","Male","chr20",44682334,44682334,"G","A","Het","Dmis","Maternal_inheritance","SLC12A5","nonsynonymous SNV","SLC12A5:NM_001134771:exon20:c.2734G>A:p.E912K,SLC12A5:NM_020708:exon20:c.2665G>A:p.E889K","solute carrier family 12 member 5","-1.861874059 (2.36745%)","0.999987272(2.5953%)","20q13.12","rs565709821","0.849:D",{"v":1.29E-5,"d":"1.29E-05"},0,"-","-"]
["A3095","Female","chr7",103236954,103236954,"A","G","Het","Dmis","Maternal_inheritance","RELN","nonsynonymous SNV","RELN:NM_005045:exon25:c.3488T>C:p.I1163T,RELN:NM_173054:exon25:c.3488T>C:p.I1163T","reelin","-1.431203386 (4.36444%)","1(0.0823%)","7q22.1","-","0.893:D","-","-","-","-"]
["A3098","Male","chr17",61781921,61781921,"C","T","Het","Dmis","Maternal_inheritance","STRADA","nonsynonymous SNV","STRADA:NM_001003786:exon9:c.769G>A:p.G257S,STRADA:NM_001165969:exon9:c.793G>A:p.G265S,STRADA:NM_001165970:exon9:c.748G>A:p.G250S,STRADA:NM_153335:exon9:c.769G>A:p.G257S,STRADA:NM_001003788:exon10:c.706G>A:p.G236S,STRADA:NM_001003787:exon11:c.880G>A:p.G294S","STE20-related kinase adaptor alpha","-0.037400113 (47.6789%)","0.002015391(61.8162%)","17q23.3","rs752707400","0.833:D",{"v":1.43E-5,"d":"1.43E-05"},0,"-","-"]
["A3126","Male","chr9",334291,334291,"C","T","Het","Dmis","Maternal_inheritance","DOCK8","nonsynonymous SNV","DOCK8:NM_001190458:exon10:c.988C>T:p.R330W,DOCK8:NM_001193536:exon10:c.988C>T:p.R330W,DOCK8:NM_203447:exon11:c.1192C>T:p.R398W","dedicator of cytokinesis 8","-0.828277355 (12.254%)","0.000135434(70.9410%)","9p24.3","rs369052464","0.981:D",{"v":2.44E-5,"d":"2.44E-05"},0,"-","-"]
["A3132","Male","chr2",167144973,167144973,"G","A","Het","Dmis","Maternal_inheritance","SCN9A","nonsynonymous SNV","SCN9A:NM_002977:exon10:c.1288C>T:p.L430F","sodium voltage-gated channel alpha subunit 9","0.192209185 (63.3422%)","9.30E-13(95.2483%)","2q24.3","-","0.870:D","-","-","-","-"]
["A3138","Male","chr11",126142964,126142964,"G","A","Het","Dmis","Maternal_inheritance","FOXRED1","nonsynonymous SNV","FOXRED1:NM_017547:exon3:c.407G>A:p.R136Q","FAD-dependent oxidoreductase domain containing 1","-0.00741366 (49.8727%)","4.09E-11(93.4650%)","11q24.2","rs758819066","0.893:D",{"v":1.63E-5,"d":"1.63E-05"},1E-4,"-","-"]
["A3138","Male","chr17",60033768,60033768,"T","C","Het","Dmis","Maternal_inheritance","MED13","nonsynonymous SNV","MED13:NM_005121:exon24:c.5555A>G:p.Q1852R","mediator complex subunit 13","-2.759416599 (0.85668%)","1(0.3512%)","17q23.2","rs374103910","0.868:D",{"v":8.13e-06,"d":"8.13E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A3138","Male","chr4",114257043,114257043,"C","G","Het","Dmis","Maternal_inheritance","ANK2","nonsynonymous SNV","ANK2:NM_001148:exon30:c.3421C>G:p.R1141G,ANK2:NM_020977:exon30:c.3421C>G:p.R1141G,ANK2:NM_001127493:exon32:c.3394C>G:p.R1132G","ankyrin 2, neuronal","-2.975174634 (0.706182%)","1(0.1646%)","4q26","-","0.983:D","-","-","-","-"]
[7629,"Female","chr9",372209,372209,"C","T","Het","Dmis","Maternal_inheritance","DOCK8","nonsynonymous SNV","DOCK8:NM_001190458:exon17:c.1828C>T:p.R610C,DOCK8:NM_001193536:exon17:c.1828C>T:p.R610C,DOCK8:NM_203447:exon18:c.2032C>T:p.R678C","dedicator of cytokinesis 8","-0.828277355 (12.254%)","0.000135434(70.9410%)","9p24.3","rs765188874","0.799:D",{"v":1.63E-5,"d":"1.63E-05"},0,"-","-"]
[5508,"Female","chr16",1245985,1245985,"G","C","Het","Dmis","Maternal_inheritance","CACNA1H","nonsynonymous SNV","CACNA1H:NM_001005407:exon5:c.605G>C:p.R202P,CACNA1H:NM_021098:exon5:c.605G>C:p.R202P","calcium voltage-gated channel subunit alpha1 H","-0.405302435 (26.0998%)","0.755916976(22.9081%)","16p13.3","-","0.989:D","-","-","-","-"]
["A3160","Male","chr1",220161954,220161954,"A","G","Het","Dmis","Maternal_inheritance","EPRS","nonsynonymous SNV","EPRS:NM_004446:exon19:c.2753T>C:p.L918P","glutamyl-prolyl-tRNA synthetase","-1.756786213 (2.7379%)","3.85E-07(84.0713%)","1q41","-","0.902:D","-","-","-","-"]
["A3173","Female","chr2",167133560,167133560,"A","G","Het","Dmis","Maternal_inheritance","SCN9A","nonsynonymous SNV","SCN9A:NM_002977:exon16:c.2774T>C:p.M925T","sodium voltage-gated channel alpha subunit 9","0.192209185 (63.3422%)","9.30E-13(95.2483%)","2q24.3","-","0.984:D","-","-","-","-"]
["A3177","Male","chr15",63908669,63908669,"T","C","Het","Dmis","Maternal_inheritance","HERC1","nonsynonymous SNV","HERC1:NM_003922:exon75:c.13901A>G:p.H4634R","HECT and RLD domain containing E3 ubiquitin protein ligase family member 1","-6.429196083 (0.0578838%)","1(0.2359%)","15q22.31","-","0.903:D","-","-","-","-"]
["A3177","Male","chr2",149227230,149227230,"C","T","Het","Dmis","Maternal_inheritance","MBD5","nonsynonymous SNV","MBD5:NM_018328:exon9:c.1718C>T:p.S573F","methyl-CpG binding domain protein 5","-1.988685078 (2.00857%)","0.999852333(4.0604%)","2q23.1","rs540723139","0.853:D",{"v":4.08e-06,"d":"4.08E-06"},0,"-","-"]
["A3180","Male","chr2",210818832,210818832,"T","C","Het","Dmis","Maternal_inheritance","UNC80","nonsynonymous SNV","UNC80:NM_032504:exon47:c.7097T>C:p.M2366T,UNC80:NM_182587:exon47:c.7082T>C:p.M2361T","unc-80 homolog, NALCN activator","-","0.139839111(41.0590%)","2q34","-","0.934:D",{"v":6.84e-06,"d":"6.84E-06"},1E-4,"-","-"]
["A3193","Female","chr6",87967759,87967759,"C","T","Het","Dmis","Maternal_inheritance","ZNF292","nonsynonymous SNV","ZNF292:NM_015021:exon8:c.4412C>T:p.P1471L,ZNF292:NM_001351444:exon9:c.3992C>T:p.P1331L","zinc finger protein 292","-1.056743456 (8.3179%)","0.999976984(2.8752%)","6q14.3","-","0.737:D","-","-","-","-"]
["A3200","Male","chr6",152485369,152485369,"C","T","Het","Dmis","Maternal_inheritance","SYNE1","nonsynonymous SNV","SYNE1:NM_001347702:exon2:c.184G>A:p.E62K,SYNE1:NM_001347701:exon4:c.325G>A:p.E109K,SYNE1:NM_033071:exon130:c.23506G>A:p.E7836K,SYNE1:NM_182961:exon131:c.23719G>A:p.E7907K","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.1","-","0.907:D","-","-","-","-"]
["A3204","Male","chr16",4847840,4847840,"C","T","Het","Dmis","Maternal_inheritance","ROGDI","nonsynonymous SNV;potential splicing","ROGDI:NM_024589:exon10:c.697G>A:p.E233K","-","-","3.13E-12(94.7874%)","16p13.3","rs370388318","0.795:D",{"v":4.92e-05,"d":"4.92E-05"},{"v":5.82e-05,"d":"5.82E-05"},{"v":6.49e-05,"d":"6.49E-05"},0]
["A3216","Male","chr9",138650348,138650348,"T","C","Het","Dmis","Maternal_inheritance","KCNT1","nonsynonymous SNV","KCNT1:NM_001272003:exon9:c.704T>C:p.F235S,KCNT1:NM_020822:exon10:c.848T>C:p.F283S","potassium sodium-activated channel subfamily T member 1","-1.732734355 (2.8363%)","0.005348738(57.7503%)","9q34.3","-","0.943:D","-","-","-","-"]
["A3219","Male","chr21",38868469,38868469,"A","G","Het","Dmis","Maternal_inheritance","DYRK1A","nonsynonymous SNV","DYRK1A:NM_001347723:exon8:c.1034A>G:p.H345R,DYRK1A:NM_130436:exon8:c.1121A>G:p.H374R,DYRK1A:NM_130438:exon8:c.1148A>G:p.H383R,DYRK1A:NM_001347721:exon9:c.1121A>G:p.H374R,DYRK1A:NM_001347722:exon9:c.1121A>G:p.H374R,DYRK1A:NM_001396:exon9:c.1148A>G:p.H383R,DYRK1A:NM_101395:exon10:c.1148A>G:p.H383R","dual specificity tyrosine phosphorylation regulated kinase 1A","-0.840447561 (11.9819%)","0.999584542(4.9108%)","21q22.13","rs754846308","0.780:D",{"v":8.13e-06,"d":"8.13E-06"},0,"-","-"]
["A3225","Female","chr8",126051175,126051175,"T","C","Het","Dmis","Maternal_inheritance","WASHC5","nonsynonymous SNV","WASHC5:NM_001330609:exon24:c.2537A>G:p.H846R,WASHC5:NM_014846:exon25:c.2981A>G:p.H994R","-","-","-","8q24.13","rs763980360","0.898:D",{"v":8.13e-06,"d":"8.13E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A3228","Female","chr18",19444512,19444512,"G","A","Het","Dmis","Maternal_inheritance","MIB1","nonsynonymous SNV","MIB1:NM_020774:exon21:c.2906G>A:p.R969H","mindbomb E3 ubiquitin protein ligase 1","-2.266121929 (1.38342%)","1.00E-44(99.9232%)","18q11.2","rs769090925","0.874:D",{"v":1.63E-5,"d":"1.63E-05"},0,"-","-"]
["A3228","Female","chr7",107600222,107600222,"T","C","Het","Dmis","Maternal_inheritance","LAMB1","nonsynonymous SNV","LAMB1:NM_002291:exon19:c.2372A>G:p.Q791R","laminin subunit beta 1","-1.235752647 (6.17041%)","1.79E-06(81.4540%)","7q31.1","rs141264140","0.829:D",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
["A3234","Female","chr4",114161732,114161732,"C","T","Het","Dmis","Maternal_inheritance","ANK2","nonsynonymous SNV","ANK2:NM_001148:exon8:c.785C>T:p.T262I,ANK2:NM_020977:exon8:c.785C>T:p.T262I,ANK2:NM_001127493:exon9:c.722C>T:p.T241I","ankyrin 2, neuronal","-2.975174634 (0.706182%)","1(0.1646%)","4q26","-","0.772:D","-","-","-","-"]
["A3241","Male","chr7",107572774,107572774,"C","T","Het","Dmis","Maternal_inheritance","LAMB1","nonsynonymous SNV","LAMB1:NM_002291:exon28:c.4237G>A:p.G1413R","laminin subunit beta 1","-1.235752647 (6.17041%)","1.79E-06(81.4540%)","7q31.1","rs369198991","0.864:D",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
["A3244","Male","chr17",1629784,1629784,"G","C","Het","Dmis","Maternal_inheritance","WDR81","nonsynonymous SNV","WDR81:NM_001163809:exon1:c.1531G>C:p.D511H","WD repeat domain 81","-","1.26E-05(77.4266%)","17p13.3","-","0.932:D","-","-","-","-"]
["A3250","Male","chr3",48462676,48462676,"G","A","Het","Dmis","Maternal_inheritance","PLXNB1","nonsynonymous SNV","PLXNB1:NM_001130082:exon8:c.1771C>T:p.P591S,PLXNB1:NM_002673:exon8:c.1771C>T:p.P591S","plexin B1","-0.517678516 (21.0755%)","0.850195108(19.8464%)","3p21.31","-","0.798:D","-","-",{"v":3.24e-05,"d":"3.24E-05"},0.0006]
["A3258","Female","chr19",18266690,18266690,"A","G","Het","Dmis","Maternal_inheritance","PIK3R2","nonsynonymous SNV","PIK3R2:NM_005027:exon2:c.1A>G:p.M1V","phosphoinositide-3-kinase regulatory subunit 2","-1.093979454 (7.79694%)","0.939626884(15.5665%)","19p13.11","-","0.820:D","-","-","-","-"]
["A3258","Female","chr9",35089416,35089416,"A","G","Het","Dmis","Maternal_inheritance","PIGO","nonsynonymous SNV","PIGO:NM_032634:exon10:c.3101T>C:p.L1034P,PIGO:NM_152850:exon11:c.1850T>C:p.L617P,PIGO:NM_001201484:exon12:c.1850T>C:p.L617P","phosphatidylinositol glycan anchor biosynthesis class O","-1.570059002 (3.56564%)","1.13E-06(82.3374%)","9p13.3","-","0.961:D","-","-","-","-"]
["A3264","Female","chr15",52725478,52725478,"G","A","Het","Dmis","Maternal_inheritance","MYO5A","nonsynonymous SNV","MYO5A:NM_000259:exon2:c.32C>T:p.A11V,MYO5A:NM_001142495:exon2:c.32C>T:p.A11V","myosin VA","-2.122805557 (1.65548%)","0.992129667(9.3388%)","15q21.2","-","0.763:D","-","-","-","-"]
["A3264","Female","chr7",107615442,107615442,"C","A","Het","Dmis","Maternal_inheritance","LAMB1","nonsynonymous SNV","LAMB1:NM_002291:exon12:c.1471G>T:p.D491Y","laminin subunit beta 1","-1.235752647 (6.17041%)","1.79E-06(81.4540%)","7q31.1","-","0.876:D","-","-","-","-"]
["A3267","Male","chr2",166930064,166930064,"G","C","Het","Dmis","Maternal_inheritance","SCN1A","nonsynonymous SNV","SCN1A:NM_001165963:exon1:c.68C>G:p.A23G,SCN1A:NM_001165964:exon1:c.68C>G:p.A23G,SCN1A:NM_006920:exon1:c.68C>G:p.A23G,SCN1A:NM_001202435:exon3:c.68C>G:p.A23G","sodium voltage-gated channel alpha subunit 1","-1.851630779 (2.39639%)","1(0.4774%)","2q24.3","-","0.856:D","-","-","-","-"]
["A3274","Male","chr1",197102510,197102510,"G","C","Het","Dmis","Maternal_inheritance","ASPM","nonsynonymous SNV","ASPM:NM_001206846:exon6:c.2389C>G:p.R797G,ASPM:NM_018136:exon6:c.2389C>G:p.R797G","abnormal spindle microtubule assembly","0.345649059 (71.4459%)","6.16E-26(99.3690%)","1q31.3","rs145489194","0.874:D",{"v":1.22E-5,"d":"1.22E-05"},1E-4,"-","-"]
["A3278","Male","chr14",75470070,75470070,"C","G","Het","Dmis","Maternal_inheritance","EIF2B2","nonsynonymous SNV","EIF2B2:NM_014239:exon2:c.256C>G:p.L86V","eukaryotic translation initiation factor 2B subunit beta","-0.382760448 (27.1938%)","0.000428256(67.4897%)","14q24.3","-","0.912:D","-","-","-","-"]
["A3287","Male","chr15",64017622,64017622,"G","T","Het","Dmis","Maternal_inheritance","HERC1","nonsynonymous SNV","HERC1:NM_003922:exon18:c.3437C>A:p.A1146D","HECT and RLD domain containing E3 ubiquitin protein ligase family member 1","-6.429196083 (0.0578838%)","1(0.2359%)","15q22.31","-","0.885:D","-","-","-","-"]
["A3293","Male","chr5",176707786,176707786,"G","A","Het","Dmis","Maternal_inheritance","NSD1","nonsynonymous SNV","NSD1:NM_022455:exon18:c.5843G>A:p.R1948H,NSD1:NM_172349:exon19:c.5036G>A:p.R1679H","nuclear receptor binding SET domain protein 1","-2.678533507 (0.920352%)","0.999999999(0.5267%)","5q35.3","rs746726463","0.907:D",{"v":8.12e-06,"d":"8.12E-06"},1E-4,"-","-"]
["A3302","Male","chr15",72643535,72643535,"T","C","Het","Dmis","Maternal_inheritance","HEXA","nonsynonymous SNV","HEXA:NM_000520:exon6:c.611A>G:p.H204R,HEXA:NM_001318825:exon6:c.644A>G:p.H215R","hexosaminidase subunit alpha","-0.266236653 (33.2079%)","5.05E-07(83.6818%)","15q23","rs121907976","0.978:D","-","-","-","-"]
["A3309","Male","chr3",52453936,52453936,"C","T","Het","Dmis","Maternal_inheritance","PHF7","nonsynonymous SNV","PHF7:NM_001278221:exon5:c.274C>T:p.R92W,PHF7:NM_001321126:exon5:c.274C>T:p.R92W,PHF7:NM_001321127:exon5:c.274C>T:p.R92W,PHF7:NM_016483:exon5:c.274C>T:p.R92W","PHD finger protein 7","-0.638623478 (17.1683%)","0.064913882(45.4870%)","3p21.1","rs753248223","0.725:D",{"v":8.47e-06,"d":"8.47E-06"},{"v":5.91E-5,"d":"5.91E-05"},"-","-"]
["A3318","Male","chr9",130423467,130423467,"C","G","Het","Dmis","Maternal_inheritance","STXBP1","nonsynonymous SNV","STXBP1:NM_001032221:exon6:c.412C>G:p.L138V,STXBP1:NM_003165:exon6:c.412C>G:p.L138V","syntaxin binding protein 1","-0.720632494 (14.9456%)","0.999882943(3.8519%)","9q34.11","-","0.913:D","-","-","-","-"]
["A3324","Male","chr9",712292,712292,"C","T","Het","Dmis","Maternal_inheritance","KANK1","nonsynonymous SNV","KANK1:NM_153186:exon2:c.1052C>T:p.P351L,KANK1:NM_015158:exon3:c.1526C>T:p.P509L,KANK1:NM_001256877:exon4:c.1526C>T:p.P509L,KANK1:NM_001256876:exon7:c.1526C>T:p.P509L","KN motif and ankyrin repeat domains 1","-0.117437522 (42.1104%)","-","9p24.3","-","0.952:D","-","-","-","-"]
["A3324","Male","chr2",239990236,239990236,"C","T","Het","Dmis","Maternal_inheritance","HDAC4","nonsynonymous SNV","HDAC4:NM_006037:exon23:c.2803G>A:p.A935T","histone deacetylase 4","-1.031237968 (8.62468%)","0.999989727(2.5075%)","2q37.3","-","0.905:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
["A3327","Male","chr6",43096715,43096715,"G","A","Het","Dmis","Maternal_inheritance","PTK7","nonsynonymous SNV;potential splicing","PTK7:NM_001270398:exon2:c.104G>A:p.G35D,PTK7:NM_002821:exon2:c.80G>A:p.G27D,PTK7:NM_152880:exon2:c.80G>A:p.G27D,PTK7:NM_152881:exon2:c.80G>A:p.G27D,PTK7:NM_152882:exon2:c.80G>A:p.G27D","-","-","0.975879481(12.2414%)","6p21.1","-","0.744:D","-","-","-","-"]
["A3337","Female","chr14",53560107,53560107,"-","TC","Het","PTV","Maternal_inheritance","DDHD1","frameshift insertion","DDHD1:NM_001160148:exon3:c.1067_1068insGA:p.V357Kfs*37,DDHD1:NM_030637:exon3:c.1067_1068insGA:p.V357Kfs*37,DDHD1:NM_001160147:exon4:c.1088_1089insGA:p.V364Kfs*37","DDHD domain containing 1","-0.743446591 (14.3262%)","0.968458214(13.1303%)","14q22.1","-","-","-","-","-","-"]
["A3337","Female","chr7",5239248,5239248,"C","G","Het","Dmis","Maternal_inheritance","WIPI2","nonsynonymous SNV","WIPI2:NM_001033519:exon2:c.116C>G:p.S39C,WIPI2:NM_016003:exon2:c.116C>G:p.S39C,WIPI2:NM_001033518:exon3:c.170C>G:p.S57C,WIPI2:NM_015610:exon3:c.170C>G:p.S57C","WD repeat domain, phosphoinositide interacting 2","-0.199225135 (37.034%)","0.093680612(43.4952%)","7p22.1","-","0.873:D","-","-","-","-"]
["A3347","Male","chr19",30199289,30199289,"A","G","Het","Dmis","Maternal_inheritance","C19orf12","nonsynonymous SNV","C19orf12:NM_001031726:exon2:c.65T>C:p.L22P,C19orf12:NM_001256046:exon2:c.32T>C:p.L11P,C19orf12:NM_001256047:exon2:c.32T>C:p.L11P,C19orf12:NM_031448:exon2:c.32T>C:p.L11P","chromosome 19 open reading frame 12","0.180193213 (62.6534%)","0.667745724(25.5199%)","19q12","-","0.993:D","-","-","-","-"]
["A3361","Female","chr15",64047470,64047470,"C","T","Het","Dmis","Maternal_inheritance","HERC1","nonsynonymous SNV","HERC1:NM_003922:exon6:c.1588G>A:p.G530R","HECT and RLD domain containing E3 ubiquitin protein ligase family member 1","-6.429196083 (0.0578838%)","1(0.2359%)","15q22.31","-","0.996:D","-","-","-","-"]
["A3361","Female","chr15",44867171,44867171,"-","TTCCAGGTTA","Het","PTV","Maternal_inheritance","SPG11","stopgain","SPG11:NM_025137:exon31:c.5934_5935insTAACCTGGAA:p.V1979fs*0","spastic paraplegia 11 (autosomal recessive)","-1.551577083 (3.66404%)","2.91E-22(99.0069%)","15q21.1","rs749652788","-",{"v":4.07E-6,"d":"4.07E-06"},{"v":5.8E-5,"d":"5.80E-05"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["A3367","Male","chr7",97481702,97481702,"G","A","Het","Dmis","Maternal_inheritance","ASNS","nonsynonymous SNV","ASNS:NM_001178076:exon11:c.1306C>T:p.R436C,ASNS:NM_001178077:exon11:c.1306C>T:p.R436C,ASNS:NM_001178075:exon13:c.1492C>T:p.R498C,ASNS:NM_001673:exon13:c.1555C>T:p.R519C,ASNS:NM_133436:exon13:c.1555C>T:p.R519C,ASNS:NM_183356:exon14:c.1555C>T:p.R519C","asparagine synthetase (glutamine-hydrolyzing)","-0.768119824 (13.6432%)","0.001665928(62.5624%)","7q21.3","-","0.729:D",0,0,"-","-"]
["A3370","Male","chr10",79396696,79396696,"C","T","Het","PTV","Maternal_inheritance","KCNMA1","stopgain","KCNMA1:NM_001271520:exon2:c.447G>A:p.W149X,KCNMA1:NM_001322839:exon2:c.447G>A:p.W149X","potassium calcium-activated channel subfamily M alpha 1","-2.043285305 (1.84649%)","0.999216603(5.5967%)","10q22.3","-","0.205:T","-","-","-","-"]
["A3388","Male","chr17",29533295,29533295,"A","G","Het","Dmis","Maternal_inheritance","NF1","nonsynonymous SNV","NF1:NM_000267:exon12:c.1298A>G:p.Y433C,NF1:NM_001042492:exon12:c.1298A>G:p.Y433C,NF1:NM_001128147:exon12:c.1298A>G:p.Y433C","neurofibromin 1","-4.245138737 (0.202593%)","0.999999846(1.1523%)","17q11.2","-","0.933:D","-","-","-","-"]
["A3394","Male","chr8",131916248,131916248,"C","T","Het","Dmis","Maternal_inheritance","ADCY8","nonsynonymous SNV","ADCY8:NM_001115:exon7:c.1681G>A:p.G561S","adenylate cyclase 8 (brain)","-1.761902552 (2.71475%)","0.002985662(60.2853%)","8q24.22","rs545028650","0.847:D",{"v":3.26E-5,"d":"3.26E-05"},{"v":1E-4,"d":"1.00E-04"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A3400","Male","chr19",36558242,36558242,"G","A","Het","Dmis","Maternal_inheritance","WDR62","nonsynonymous SNV","WDR62:NM_001083961:exon6:c.596G>A:p.C199Y,WDR62:NM_173636:exon6:c.596G>A:p.C199Y","WD repeat domain 62","-0.075700179 (45.1899%)","3.70E-13(95.6049%)","19q13.12","rs760031538","0.714:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
["A3406","Male","chr6",152792742,152792742,"T","C","Het","Dmis","Maternal_inheritance","SYNE1","nonsynonymous SNV","SYNE1:NM_033071:exon16:c.1643A>G:p.Q548R,SYNE1:NM_182961:exon16:c.1622A>G:p.Q541R","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.2","rs532911105","0.782:D",{"v":4.88E-5,"d":"4.88E-05"},{"v":0,"d":"0.00E+00"},{"v":9.68e-05,"d":"9.68E-05"},0]
["A3409","Male","chr16",15788079,15788079,"T","A","Het","Dmis","Maternal_inheritance","NDE1","nonsynonymous SNV","NDE1:NM_017668:exon7:c.761T>A:p.L254H,NDE1:NM_001143979:exon8:c.761T>A:p.L254H","nudE neurodevelopment protein 1","-0.467111291 (23.084%)","0.047109548(47.2977%)","16p13.11","-","0.962:D","-","-","-","-"]
["A3412","Female","chr17",76498744,76498744,"C","T","Het","Dmis","Maternal_inheritance","DNAH17","nonsynonymous SNV","DNAH17:NM_173628:exon33:c.5119G>A:p.E1707K","dynein axonemal heavy chain 17","-","-","17q25.3","rs752766622","0.828:D",{"v":2.45e-05,"d":"2.45E-05"},0,"-","-"]
["A3415","Male","chr3",52018174,52018174,"G","C","Het","Dmis","Maternal_inheritance","ACY1","nonsynonymous SNV;potential splicing","ACY1:NM_000666:exon2:c.94G>C:p.G32R,ACY1:NM_001198895:exon2:c.94G>C:p.G32R,ACY1:NM_001198896:exon2:c.94G>C:p.G32R,ACY1:NM_001198897:exon2:c.94G>C:p.G32R,ACY1:NM_001198898:exon2:c.94G>C:p.G32R,ABHD14A-ACY1:NM_001316331:exon4:c.364G>C:p.G122R","-","-","7.69E-05(72.6310%)","3p21.2","-","0.665:T",{"v":4.09e-06,"d":"4.09E-06"},{"v":5.81e-05,"d":"5.81E-05"},"-","-"]
["A3415","Male","chr7",146536926,146536926,"C","T","Het","Dmis","Maternal_inheritance","CNTNAP2","nonsynonymous SNV","CNTNAP2:NM_014141:exon3:c.332C>T:p.T111I","contactin associated protein-like 2","-0.135838044 (40.9065%)","3.83E-05(74.5569%)","7q35","-","0.916:D","-","-","-","-"]
["A3424","Male","chr8",141381107,141381107,"A","T","Het","Dmis","Maternal_inheritance","TRAPPC9","nonsynonymous SNV","TRAPPC9:NM_001321646:exon7:c.1280T>A:p.L427Q,TRAPPC9:NM_001160372:exon8:c.1307T>A:p.L436Q,TRAPPC9:NM_031466:exon8:c.1601T>A:p.L534Q","trafficking protein particle complex 9","-0.329836902 (29.8217%)","5.76E-06(79.2209%)","8q24.3","-","0.972:D","-","-","-","-"]
["A3424","Male","chr5",161300289,161300289,"T","C","Het","Dmis","Maternal_inheritance","GABRA1","nonsynonymous SNV","GABRA1:NM_001127648:exon4:c.422T>C:p.M141T,GABRA1:NM_001127644:exon5:c.422T>C:p.M141T,GABRA1:NM_001127645:exon5:c.422T>C:p.M141T,GABRA1:NM_000806:exon6:c.422T>C:p.M141T,GABRA1:NM_001127643:exon6:c.422T>C:p.M141T","gamma-aminobutyric acid type A receptor alpha1 subunit","-0.555053577 (19.8426%)","0.963866035(13.5473%)","5q34","-","0.802:D","-","-","-","-"]
["A3427","Male","chr4",140265466,140265466,"G","C","Het","Dmis","Maternal_inheritance","NAA15","nonsynonymous SNV","NAA15:NM_057175:exon6:c.664G>C:p.D222H","N(alpha)-acetyltransferase 15, NatA auxiliary subunit","-0.954010846 (9.79972%)","0.99857684(6.3594%)","4q31.1","-","0.946:D","-","-","-","-"]
["A3427","Male","chr15",67008824,67008824,"G","T","Het","Dmis","Maternal_inheritance","SMAD6","nonsynonymous SNV","SMAD6:NM_005585:exon3:c.940G>T:p.G314C","SMAD family member 6","-","6.97E-06(78.8916%)","15q22.31","-","0.953:D","-","-","-","-"]
["A3427","Male","chr13",25479588,25479588,"G","A","Het","Dmis","Maternal_inheritance","CENPJ","nonsynonymous SNV","CENPJ:NM_018451:exon7:c.2588C>T:p.S863L","centromere protein J","0.700358238 (84.8287%)","3.03E-21(98.8697%)","13q12.12","-","0.813:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":0,"d":"0.00E+00"},{"v":6.46e-05,"d":"6.46E-05"},0]
["A3333","Male","chr2",167144973,167144973,"G","A","Het","Dmis","Maternal_inheritance","SCN9A","nonsynonymous SNV","SCN9A:NM_002977:exon10:c.1288C>T:p.L430F","sodium voltage-gated channel alpha subunit 9","0.192209185 (63.3422%)","9.30E-13(95.2483%)","2q24.3","-","0.870:D","-","-","-","-"]
["A3435","Male","chr15",28377879,28377879,"C","T","Het","Dmis","Maternal_inheritance","HERC2","nonsynonymous SNV","HERC2:NM_004667:exon80:c.12328G>A:p.G4110R","HECT and RLD domain containing E3 ubiquitin protein ligase 2","-4.457155603 (0.162075%)","1(0.0055%)","15q13.1","rs753700021","0.997:D",{"v":2.08e-05,"d":"2.08E-05"},{"v":6.02E-5,"d":"6.02E-05"},"-","-"]
["A3435","Male","chr1",27876645,27876645,"C","T","Het","Dmis","Maternal_inheritance","AHDC1","nonsynonymous SNV","AHDC1:NM_001029882:exon6:c.1982G>A:p.R661H","AT-hook DNA binding motif containing 1","-2.166626001 (1.58602%)","0.999431448(5.2675%)","1p36.11","rs199991902","0.725:D",{"v":8.25e-06,"d":"8.25E-06"},{"v":5.83e-05,"d":"5.83E-05"},"-","-"]
["A3450","Male","chr16",74808505,74808505,"A","T","Het","Dmis","Maternal_inheritance","FA2H","nonsynonymous SNV","FA2H:NM_024306:exon1:c.149T>A:p.L50Q","fatty acid 2-hydroxylase","-0.270606697 (32.9185%)","0.726409724(23.8025%)","16q23.1","-","0.982:D","-","-","-","-"]
["A3460","Female","chr5",11364901,11364901,"G","A","Het","Dmis","Maternal_inheritance","CTNND2","nonsynonymous SNV","CTNND2:NM_001288716:exon5:c.268C>T:p.R90C,CTNND2:NM_001288715:exon7:c.1006C>T:p.R336C,CTNND2:NM_001332:exon8:c.1279C>T:p.R427C","catenin delta 2","-2.728644226 (0.868257%)","0.999999952(0.9383%)","5p15.2","rs773745550","0.957:D",{"v":8.16e-05,"d":"8.16E-05"},{"v":1E-4,"d":"1.00E-04"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["A3470","Male","chr7",50566868,50566868,"C","T","Het","Dmis","Maternal_inheritance","DDC","nonsynonymous SNV","DDC:NM_001242888:exon6:c.620G>A:p.R207Q,DDC:NM_001242889:exon6:c.575G>A:p.R192Q,DDC:NM_001242886:exon7:c.740G>A:p.R247Q,DDC:NM_001242887:exon7:c.710G>A:p.R237Q,DDC:NM_000790:exon8:c.854G>A:p.R285Q,DDC:NM_001082971:exon8:c.854G>A:p.R285Q,DDC:NM_001242890:exon8:c.854G>A:p.R285Q","dopa decarboxylase","-0.736567234 (14.4883%)","4.61E-05(74.0631%)","7p12.1","rs573103547","0.825:D",{"v":5.69e-05,"d":"5.69E-05"},1E-4,1E-4,0]
["A3470","Male","chr4",108866191,108866191,"C","T","Het","Dmis","Maternal_inheritance","CYP2U1","nonsynonymous SNV","CYP2U1:NM_183075:exon2:c.556C>T:p.R186C","cytochrome P450 family 2 subfamily U member 1","-0.044896789 (47.1405%)","0.081783015(44.2743%)","4q25","rs779164469","0.961:D",{"v":2.03e-05,"d":"2.03E-05"},0,"-","-"]
["A3474","Female","chr10",112350222,112350222,"G","A","Het","Dmis","Maternal_inheritance","SMC3","nonsynonymous SNV","SMC3:NM_005445:exon16:c.1562G>A:p.R521Q","structural maintenance of chromosomes 3","-1.544846007 (3.69877%)","0.999999999(0.4829%)","10q25.2","-","0.758:D","-","-","-","-"]
["A3495","Male","chr7",50566869,50566869,"G","A","Het","Dmis","Maternal_inheritance","DDC","nonsynonymous SNV","DDC:NM_001242888:exon6:c.619C>T:p.R207W,DDC:NM_001242889:exon6:c.574C>T:p.R192W,DDC:NM_001242886:exon7:c.739C>T:p.R247W,DDC:NM_001242887:exon7:c.709C>T:p.R237W,DDC:NM_000790:exon8:c.853C>T:p.R285W,DDC:NM_001082971:exon8:c.853C>T:p.R285W,DDC:NM_001242890:exon8:c.853C>T:p.R285W","dopa decarboxylase","-0.736567234 (14.4883%)","4.61E-05(74.0631%)","7p12.1","rs886062372","0.926:D","-","-",{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["A3508","Male","chr7",82545045,82545045,"C","G","Het","Dmis","Maternal_inheritance","PCLO","nonsynonymous SNV","PCLO:NM_014510:exon7:c.12257G>C:p.R4086P,PCLO:NM_033026:exon7:c.12257G>C:p.R4086P","piccolo presynaptic cytomatrix protein","-2.152098952 (1.61496%)","1(0.2853%)","7q21.11","-","0.840:D","-","-","-","-"]
["A3508","Male","chr10",61842491,61842491,"C","T","Het","Dmis","Maternal_inheritance","ANK3","nonsynonymous SNV","ANK3:NM_001149:exon12:c.1607G>A:p.R536K,ANK3:NM_001320874:exon34:c.4205G>A:p.R1402K,ANK3:NM_020987:exon34:c.4205G>A:p.R1402K,ANK3:NM_001204403:exon35:c.4187G>A:p.R1396K,ANK3:NM_001204404:exon35:c.4208G>A:p.R1403K","ankyrin 3, node of Ranvier (ankyrin G)","-5.215169063 (0.0752489%)","1(0.1481%)","10q21.2","-","0.833:D","-","-","-","-"]
["A3520","Male","chr17",49072500,49072500,"T","A","Het","Dmis","Maternal_inheritance","SPAG9","nonsynonymous SNV","SPAG9:NM_001251971:exon14:c.1673A>T:p.D558V,SPAG9:NM_003971:exon17:c.2102A>T:p.D701V,SPAG9:NM_001130527:exon18:c.2114A>T:p.D705V,SPAG9:NM_001130528:exon18:c.2144A>T:p.D715V","sperm associated antigen 9","-1.200392043 (6.59296%)","0.999998938(1.6680%)","17q21.33","rs746583176","0.723:D",{"v":8.12e-06,"d":"8.12E-06"},0,"-","-"]
["A3535","Male","chr3",48465687,48465687,"C","T","Het","Dmis","Maternal_inheritance","PLXNB1","nonsynonymous SNV","PLXNB1:NM_001130082:exon3:c.334G>A:p.G112R,PLXNB1:NM_002673:exon3:c.334G>A:p.G112R","plexin B1","-0.517678516 (21.0755%)","0.850195108(19.8464%)","3p21.31","-","0.959:D",{"v":5.23e-06,"d":"5.23E-06"},0,"-","-"]
["A3544","Male","chr16",1246014,1246014,"C","T","Het","Dmis","Maternal_inheritance","CACNA1H","nonsynonymous SNV","CACNA1H:NM_001005407:exon5:c.634C>T:p.R212C,CACNA1H:NM_021098:exon5:c.634C>T:p.R212C","calcium voltage-gated channel subunit alpha1 H","-0.405302435 (26.0998%)","0.755916976(22.9081%)","16p13.3","rs370434906","0.905:D",{"v":4.08e-06,"d":"4.08E-06"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A3544","Male","chr17",76525732,76525732,"A","G","Het","Dmis","Maternal_inheritance","DNAH17","nonsynonymous SNV","DNAH17:NM_173628:exon22:c.3329T>C:p.L1110S","dynein axonemal heavy chain 17","-","-","17q25.3","-","0.861:D","-","-","-","-"]
["A3550","Male","chr5",1409221,1409221,"G","A","Het","Dmis","Maternal_inheritance","SLC6A3","nonsynonymous SNV","SLC6A3:NM_001044:exon11:c.1418C>T:p.T473M","solute carrier family 6 member 3","-0.860754331 (11.5883%)","0.997036902(7.4678%)","5p15.33","rs754889013","0.848:D",{"v":4.13e-06,"d":"4.13E-06"},0,"-","-"]
["A3556","Male","chr8",15508310,15508310,"A","C","Het","Dmis","Maternal_inheritance","TUSC3","nonsynonymous SNV","TUSC3:NM_006765:exon3:c.413A>C:p.D138A,TUSC3:NM_178234:exon3:c.413A>C:p.D138A","tumor suppressor candidate 3","-1.080388811 (8.02269%)","0.001898764(61.9918%)","8p22","-","0.708:D","-","-","-","-"]
["A3556","Male","chr6",52303169,52303169,"G","T","Het","Dmis","Maternal_inheritance","EFHC1","nonsynonymous SNV","EFHC1:NM_018100:exon3:c.353G>T:p.R118L,EFHC1:NM_001172420:exon4:c.296G>T:p.R99L","EF-hand domain (C-terminal) containing 1","0.83608509 (87.9775%)","5.06E-12(94.6063%)","6p12.2","-","0.985:D","-","-","-","-"]
["A3566","Female","chr16",89623401,89623401,"G","A","Het","PTV","Maternal_inheritance","SPG7","stopgain","SPG7:NM_003119:exon17:c.2288G>A:p.W763X","SPG7, paraplegin matrix AAA peptidase subunit","-0.909998092 (10.6043%)","1.38E-18(98.2826%)","16q24.3","rs760570043","0.827:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[5896,"Male","chrX",40456840,40456840,"A","G","Hemi","Dmis","Maternal_inheritance","ATP6AP2","nonsynonymous SNV","ATP6AP2:NM_005765:exon5:c.458A>G:p.Q153R","ATPase H+ transporting accessory protein 2","-0.518762939 (21.0465%)","0.785047268(22.0960%)","Xp11.4","-","0.875:D","-","-","-","-"]
[6120,"Male","chrX",73744208,73744208,"G","A","Hemi","Dmis","Maternal_inheritance","SLC16A2","nonsynonymous SNV","SLC16A2:NM_006517:exon3:c.590G>A:p.R197H","solute carrier family 16 member 2","-0.095397409 (43.7543%)","0.934351643(15.8354%)","Xq13.2","rs727504155","0.727:D","-","-","-","-"]
[6193,"Male","chrX",32563295,32563295,"C","A","Hemi","Dmis","Maternal_inheritance","DMD","nonsynonymous SNV","DMD:NM_000109:exon17:c.2125G>T:p.D709Y,DMD:NM_004006:exon17:c.2149G>T:p.D717Y,DMD:NM_004009:exon17:c.2137G>T:p.D713Y,DMD:NM_004010:exon17:c.1780G>T:p.D594Y","dystrophin","2.114823893 (98.4834%)","1(0.4335%)","Xp21.1","-","0.873:D","-","-","-","-"]
["8667_TKD180402508-AK3248","Male","chrX",31201009,31201009,"G","T","Hemi","Dmis","Maternal_inheritance","DMD","nonsynonymous SNV","DMD:NM_004015:exon7:c.616C>A:p.P206T,DMD:NM_004016:exon7:c.616C>A:p.P206T,DMD:NM_004017:exon7:c.616C>A:p.P206T,DMD:NM_004018:exon7:c.616C>A:p.P206T,DMD:NM_004019:exon7:c.616C>A:p.P206T,DMD:NM_004014:exon14:c.1633C>A:p.P545T,DMD:NM_004013:exon25:c.2440C>A:p.P814T,DMD:NM_004020:exon25:c.2440C>A:p.P814T,DMD:NM_004021:exon25:c.2440C>A:p.P814T,DMD:NM_004022:exon25:c.2440C>A:p.P814T,DMD:NM_004023:exon25:c.2440C>A:p.P814T,DMD:NM_004011:exon40:c.5797C>A:p.P1933T,DMD:NM_004012:exon40:c.5788C>A:p.P1930T,DMD:NM_000109:exon68:c.9796C>A:p.P3266T,DMD:NM_004006:exon68:c.9820C>A:p.P3274T,DMD:NM_004009:exon68:c.9808C>A:p.P3270T,DMD:NM_004010:exon68:c.9451C>A:p.P3151T","dystrophin","2.114823893 (98.4834%)","1(0.4335%)","Xp21.2","-","0.802:D","-","-","-","-"]
[7595,"Male","chr6",24528393,24528393,"A","T","Comp","PTV","Maternal_inheritance","ALDH5A1","stopgain;potential splicing","ALDH5A1:NM_001080:exon8:c.1342A>T:p.K448X,ALDH5A1:NM_170740:exon9:c.1381A>T:p.K461X","-","-","0.002904262(60.4335%)","6p22.3","-","0.724:D","-","-","-","-"]
["A1741","Male","chr7",50547533,50547533,"C","A","Het","Dmis","Maternal_inheritance","DDC","nonsynonymous SNV","DDC:NM_001242888:exon8:c.739G>T:p.A247S,DDC:NM_001242889:exon8:c.694G>T:p.A232S,DDC:NM_001242886:exon9:c.859G>T:p.A287S,DDC:NM_001242887:exon9:c.829G>T:p.A277S,DDC:NM_000790:exon10:c.973G>T:p.A325S,DDC:NM_001082971:exon10:c.973G>T:p.A325S","dopa decarboxylase","-0.736567234 (14.4883%)","4.61E-05(74.0631%)","7p12.1","rs768264090","0.828:D",{"v":1.22E-5,"d":"1.22E-05"},0.0002,"-","-"]
["A1041","Male","chr15",49059645,49059645,"A","C","Het","PTV","Maternal_inheritance","CEP152","stopgain","CEP152:NM_001194998:exon16:c.2034T>G:p.Y678X,CEP152:NM_014985:exon16:c.2034T>G:p.Y678X","centrosomal protein 152kDa","0.67913999 (84.1804%)","4.42E-21(98.8477%)","15q21.1","rs182018947","0.398:T",0.0003,0.0003,0.0005,0]
["A1031","Female","chr7",66103980,66103980,"C","T","Het","PTV","Maternal_inheritance","KCTD7","stopgain","KCTD7:NM_001167961:exon4:c.631C>T:p.R211X,KCTD7:NM_153033:exon4:c.631C>T:p.R211X","potassium channel tetramerization domain containing 7","-0.394006823 (26.696%)","0.496529666(30.0137%)","7q11.21","rs750811871","0.805:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
["A52","Male","chr1",197111787,197111790,"ATTA","-","Comp","PTV","Maternal_inheritance","ASPM","frameshift deletion","ASPM:NM_001206846:exon3:c.1592_1595del:p.V531Efs*16,ASPM:NM_018136:exon3:c.1592_1595del:p.V531Efs*16","abnormal spindle microtubule assembly","0.345649059 (71.4459%)","6.16E-26(99.3690%)","1q31.3","-","-","-","-","-","-"]
["A3474","Female","chr12",109940987,109940987,"-","ACTC","Het","PTV","Maternal_inheritance","UBE3B","frameshift insertion","UBE3B:NM_130466:exon14:c.1442_1443insACTC:p.G484Hfs*6,UBE3B:NM_183415:exon14:c.1442_1443insACTC:p.G484Hfs*6","ubiquitin protein ligase E3B","-2.422919179 (1.16925%)","0.009387706(55.1605%)","12q24.11","-","-","-","-","-","-"]
[5382,"Male","chr5",1443358,1443358,"C","T","Het","PTV","Maternal_inheritance","SLC6A3","splicing","NM_001044:exon2:UTR5","solute carrier family 6 member 3","-0.860754331 (11.5883%)","0.997036902(7.4678%)","5p15.33","-","-","-","-","-","-"]
[9685,"Male","chr9",35092766,35092766,"T","G","Het","PTV","Maternal_inheritance","PIGO","splicing","NM_032634:exon7:c.1120-2A>C;NM_001201484:exon8:c.1120-2A>C;NM_152850:exon7:c.1120-2A>C","phosphatidylinositol glycan anchor biosynthesis class O","-1.570059002 (3.56564%)","1.13E-06(82.3374%)","9p13.3","-","0.700:D","-","-","-","-"]
["s4606","Male","chr11",65977832,65977832,"G","A","Het","PTV","Maternal_inheritance","PACS1","splicing","NM_018026:exon3:c.445-1G>A","phosphofurin acidic cluster sorting protein 1","-1.475636869 (4.10975%)","0.999906352(3.6653%)","11q13.2","-","0.750:D","-","-","-","-"]
["s5207","Male","chrX",46513159,46513159,"C","G","Hemi","PTV","Maternal_inheritance","SLC9A7","splicing","NM_032591:exon8:c.1030-1G>C","solute carrier family 9 member A7","-0.446833808 (24.0565%)","0.953699987(14.3759%)","Xp11.23","rs781216966","0.134:T",{"v":1.72e-05,"d":"1.72E-05"},0.0002,"-","-"]
[7264,"Male","chr14",31549777,31549777,"A","G","Het","PTV","Maternal_inheritance","AP4S1","splicing","NM_001254729:exon5:c.295-2A>G;NM_007077:exon5:c.295-2A>G;NM_001254727:exon5:c.295-2A>G;NM_001128126:exon5:c.295-2A>G;NM_001254728:exon5:c.295-2A>G","adaptor related protein complex 4 sigma 1 subunit","0.304375634 (69.3795%)","1.34E-07(85.7064%)","14q12","-","0.668:T","-","-","-","-"]
[9595,"Male","chr6",43109667,43109667,"A","G","Het","PTV","Maternal_inheritance","PTK7","splicing","NM_152882:exon12:c.1769-2A>G;NM_002821:exon12:c.1769-2A>G;NM_152881:exon9:c.1379-2A>G;NM_152880:exon11:c.1649-2A>G;NM_001270398:exon12:c.1793-2A>G","protein tyrosine kinase 7 (inactive)","-1.399907107 (4.57861%)","0.975879481(12.2414%)","6p21.1","-","0.681:T","-","-","-","-"]
["A1777","Male","chr6",152777180,152777180,"C","T","Het","PTV","Maternal_inheritance","SYNE1","splicing","NM_033071:exon23:c.2590-1G>A;NM_182961:exon23:c.2569-1G>A","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.2","rs753057050","0.675:T",{"v":4.08e-06,"d":"4.08E-06"},0,"-","-"]
["A986","Female","chr9",133914440,133914440,"G","C","Het","PTV","Maternal_inheritance","LAMC3","splicing","NM_006059:exon5:c.1165+1G>C","laminin subunit gamma 3","2.420983809 (99.016%)","9.82E-11(92.8999%)","9q34.12","-","0.617:T","-","-","-","-"]
["A940","Female","chr15",63929843,63929843,"C","G","Het","PTV","Maternal_inheritance","HERC1","splicing","NM_003922:exon64:c.12094-1G>C","HECT and RLD domain containing E3 ubiquitin protein ligase family member 1","-6.429196083 (0.0578838%)","1(0.2359%)","15q22.31","-","0.715:D","-","-","-","-"]
["A2179","Male","chr19",46280584,46280584,"C","A","Het","PTV","Maternal_inheritance","DMPK","splicing","NM_004409:exon8:c.1146+1G>T;NM_001081563:exon7:c.1176+1G>T;NM_001288765:exon6:c.879+1G>T;NM_001288764:exon9:c.1224+1G>T","dystrophia myotonica protein kinase","-0.218128743 (36.0037%)","0.033081179(49.1687%)","19q13.32","-","0.578:T","-","-","-","-"]
["A2182","Female","chr19",46280584,46280584,"C","A","Het","PTV","Maternal_inheritance","DMPK","splicing","NM_004409:exon8:c.1146+1G>T;NM_001081563:exon7:c.1176+1G>T;NM_001288765:exon6:c.879+1G>T;NM_001288764:exon9:c.1224+1G>T","dystrophia myotonica protein kinase","-0.218128743 (36.0037%)","0.033081179(49.1687%)","19q13.32","-","0.578:T","-","-","-","-"]
["A3070","Female","chr2",166237101,166237101,"G","C","Het","PTV","Maternal_inheritance","SCN2A","splicing","NM_001040142:exon24:c.4309-1G>C;NM_021007:exon24:c.4309-1G>C;NM_001040143:exon23:c.4309-1G>C","sodium voltage-gated channel alpha subunit 2","-2.505757944 (1.05348%)","0.999999992(0.7243%)","2q24.3","-","0.721:D","-","-","-","-"]
["A3092","Male","chr2",202569176,202569176,"C","A","Het","PTV","Maternal_inheritance","ALS2","splicing","NM_020919:exon32:c.4838+1G>T","ALS2, alsin Rho guanine nucleotide exchange factor","-2.155938739 (1.60338%)","0.000769641(65.5693%)","2q33.1","-","0.737:D","-","-","-","-"]
["A3126","Male","chr11",119216755,119216755,"C","T","Het","PTV","Maternal_inheritance","C1QTNF5;MFRP","splicing","NM_015645:exon3:UTR5;NM_031433:exon3:c.271+1G>A","-","-","5.34E-08(86.8258%)","11q23.3","rs755272017","0.575:T",{"v":2.98e-05,"d":"2.98E-05"},{"v":0,"d":"0.00E+00"},{"v":3.24e-05,"d":"3.24E-05"},0]
["A3535","Male","chr6",73000565,73000565,"G","A","Het","PTV","Maternal_inheritance","RIMS1","splicing","NM_014989:exon25:c.3737+1G>A;NM_001350420:exon16:c.1811+1G>A;NM_001350431:exon16:c.1793+1G>A;NM_001350438:exon17:c.1880+1G>A;NM_001350442:exon17:c.1883+1G>A;NM_001350446:exon17:c.1883+1G>A;NM_001350456:exon17:c.1880+1G>A;NM_001350462:exon17:c.1742+1G>A","regulating synaptic membrane exocytosis 1","-1.734102772 (2.83052%)","0.029211449(49.7558%)","6q13","-","0.678:T","-","-","-","-"]
[6568,"Male","chr15",85191767,85191767,"C","G","Comp","PTV","Maternal_inheritance","WDR73","splicing","NM_032856:exon4:c.287+1G>C","WD repeat domain 73","0.083031743 (56.2399%)","7.90E-06(78.6063%)","15q25.2","-","0.694:T",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
[10348,"Male","chr9",35091398,35091398,"C","T","Het","Dmis","Paternal_inheritance","PIGO","nonsynonymous SNV","PIGO:NM_032634:exon7:c.2486G>A:p.G829E","phosphatidylinositol glycan anchor biosynthesis class O","-1.570059002 (3.56564%)","1.13E-06(82.3374%)","9p13.3","-","0.901:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
[5303,"Male","chr8",126093976,126093976,"T","C","Het","Dmis","Paternal_inheritance","WASHC5","nonsynonymous SNV","WASHC5:NM_001330609:exon4:c.1A>G:p.M1V,WASHC5:NM_014846:exon5:c.445A>G:p.M149V","-","-","-","8q24.13","-","0.973:D","-","-","-","-"]
[5309,"Male","chr8",131793043,131793043,"G","C","Het","Dmis","Paternal_inheritance","ADCY8","nonsynonymous SNV","ADCY8:NM_001115:exon18:c.3349C>G:p.L1117V","adenylate cyclase 8 (brain)","-1.761902552 (2.71475%)","0.002985662(60.2853%)","8q24.22","rs139964168","0.829:D",1E-4,{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
[5316,"Male","chr11",64436033,64436033,"G","A","Het","Dmis","Paternal_inheritance","NRXN2","nonsynonymous SNV","NRXN2:NM_138732:exon7:c.1148C>T:p.T383M,NRXN2:NM_015080:exon8:c.1241C>T:p.T414M","neurexin 2","-3.073708586 (0.654087%)","0.999895574(3.7421%)","11q13.1","-","0.904:D","-","-","-","-"]
[5319,"Male","chr21",41423968,41423968,"G","A","Het","Dmis","Paternal_inheritance","DSCAM","nonsynonymous SNV","DSCAM:NM_001271534:exon30:c.5102C>T:p.T1701M,DSCAM:NM_001389:exon30:c.5102C>T:p.T1701M","Down syndrome cell adhesion molecule","-4.387829485 (0.185228%)","1(0.4225%)","21q22.2","rs371677891","0.710:D",{"v":9.75e-05,"d":"9.75E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[5319,"Male","chr4",134075475,134075475,"G","A","Het","Dmis","Paternal_inheritance","PCDH10","nonsynonymous SNV","PCDH10:NM_032961:exon2:c.2645G>A:p.R882Q","protocadherin 10","-2.129264681 (1.6439%)","0.894430213(17.9424%)","4q28.3","rs752374821","0.708:D",{"v":3.72e-05,"d":"3.72E-05"},{"v":5.97e-05,"d":"5.97E-05"},"-","-"]
[5407,"Female","chr3",100432653,100432653,"C","G","Het","Dmis","Paternal_inheritance","TFG","nonsynonymous SNV","TFG:NM_001007565:exon2:c.124C>G:p.R42G,TFG:NM_001195478:exon2:c.124C>G:p.R42G,TFG:NM_001195479:exon2:c.124C>G:p.R42G,TFG:NM_006070:exon2:c.124C>G:p.R42G","TRK-fused gene","0.083031743 (56.2341%)","0.757056423(22.8861%)","3q12.2","-","0.868:D","-","-","-","-"]
[5407,"Female","chr5",88018443,88018443,"A","G","Het","Dmis","Paternal_inheritance","MEF2C","nonsynonymous SNV","MEF2C:NM_001193348:exon8:c.1232T>C:p.L411P,MEF2C:NM_001193349:exon9:c.1160T>C:p.L387P,MEF2C:NM_001308002:exon9:c.1376T>C:p.L459P,MEF2C:NM_001131005:exon11:c.1370T>C:p.L457P,MEF2C:NM_001193350:exon11:c.1400T>C:p.L467P,MEF2C:NM_002397:exon11:c.1400T>C:p.L467P,MEF2C:NM_001193347:exon12:c.1430T>C:p.L477P","myocyte enhancer factor 2C","-0.582858988 (19.0264%)","0.004246174(58.8093%)","5q14.3","-","0.953:D",{"v":4.08e-06,"d":"4.08E-06"},{"v":5.82e-05,"d":"5.82E-05"},"-","-"]
[5410,"Female","chr16",15781281,15781281,"A","T","Het","Dmis","Paternal_inheritance","NDE1","nonsynonymous SNV","NDE1:NM_017668:exon5:c.436A>T:p.I146F,NDE1:NM_001143979:exon6:c.436A>T:p.I146F","nudE neurodevelopment protein 1","-0.467111291 (23.084%)","0.047109548(47.2977%)","16p13.11","rs769769294","0.967:D",{"v":8.13e-06,"d":"8.13E-06"},1E-4,"-","-"]
[5416,"Male","chr6",11190513,11190513,"C","T","Het","Dmis","Paternal_inheritance","NEDD9","nonsynonymous SNV","NEDD9:NM_001271033:exon4:c.1142G>A:p.R381Q,NEDD9:NM_006403:exon5:c.1589G>A:p.R530Q,NEDD9:NM_001142393:exon6:c.1589G>A:p.R530Q","neural precursor cell expressed, developmentally down-regulated 9","0.054905748 (54.2892%)","0.534981125(28.9657%)","6p24.2","rs148857388","0.824:D",{"v":8.12e-05,"d":"8.12E-05"},{"v":1E-4,"d":"1.00E-04"},{"v":3.23e-05,"d":"3.23E-05"},0]
[5422,"Male","chr17",1639000,1639000,"C","T","Het","Dmis","Paternal_inheritance","WDR81","nonsynonymous SNV","WDR81:NM_001163673:exon8:c.1705C>T:p.P569S,WDR81:NM_001163809:exon8:c.5314C>T:p.P1772S,WDR81:NM_001163811:exon8:c.1633C>T:p.P545S,WDR81:NM_152348:exon9:c.2161C>T:p.P721S","WD repeat domain 81","-","1.26E-05(77.4266%)","17p13.3","rs144021458","0.751:D",{"v":8.2e-05,"d":"8.20E-05"},0,"-","-"]
[5439,"Female","chr2",205410744,205410744,"G","-","Het","PTV","Paternal_inheritance","PARD3B","frameshift deletion","PARD3B:NM_001302769:exon1:c.22delG:p.G8Afs*27,PARD3B:NM_057177:exon1:c.22delG:p.G8Afs*27,PARD3B:NM_152526:exon1:c.22delG:p.G8Afs*27,PARD3B:NM_205863:exon1:c.22delG:p.G8Afs*27","par-3 family cell polarity regulator beta","0.394809114 (73.7902%)","8.65E-08(86.2387%)","2q33.3","-","-","-","-","-","-"]
[5445,"Male","chr2",32362002,32362002,"C","T","Het","Dmis","Paternal_inheritance","SPAST","nonsynonymous SNV","SPAST:NM_199436:exon10:c.1282C>T:p.R428C,SPAST:NM_014946:exon11:c.1378C>T:p.R460C","spastin","-0.2563941 (33.7868%)","0.997074713(7.4458%)","2p22.3","rs878854990","0.988:D","-","-","-","-"]
[5448,"Male","chr2",210818918,210818918,"C","T","Het","PTV","Paternal_inheritance","UNC80","stopgain","UNC80:NM_032504:exon47:c.7183C>T:p.R2395X,UNC80:NM_182587:exon47:c.7168C>T:p.R2390X","unc-80 homolog, NALCN activator","-","0.139839111(41.0590%)","2q34","-","0.695:T",{"v":6.62e-06,"d":"6.62E-06"},0,"-","-"]
[9119,"Male","chr1",27875917,27875917,"C","T","Het","Dmis","Paternal_inheritance","AHDC1","nonsynonymous SNV","AHDC1:NM_001029882:exon6:c.2710G>A:p.G904R","AT-hook DNA binding motif containing 1","-2.166626001 (1.58602%)","0.999431448(5.2675%)","1p36.11","rs760092497","0.707:D",{"v":1.64e-05,"d":"1.64E-05"},{"v":0,"d":"0.00E+00"},{"v":6.48e-05,"d":"6.48E-05"},0]
[9240,"Female","chr17",16024480,16024480,"G","A","Het","Dmis","Paternal_inheritance","NCOR1","nonsynonymous SNV","NCOR1:NM_001190438:exon13:c.1411C>T:p.R471C,NCOR1:NM_001190440:exon15:c.1738C>T:p.R580C,NCOR1:NM_006311:exon16:c.1738C>T:p.R580C","nuclear receptor corepressor 1","-3.079715329 (0.648298%)","0.999999999(0.5158%)","17p11.2","-","0.797:D",{"v":4.07E-6,"d":"4.07E-06"},{"v":0,"d":"0.00E+00"},{"v":3.24e-05,"d":"3.24E-05"},0]
[9240,"Female","chr2",210841746,210841746,"T","C","Het","Dmis","Paternal_inheritance","UNC80","nonsynonymous SNV","UNC80:NM_032504:exon57:c.8684T>C:p.I2895T,UNC80:NM_182587:exon57:c.8669T>C:p.I2890T","unc-80 homolog, NALCN activator","-","0.139839111(41.0590%)","2q34","-","0.808:D","-","-","-","-"]
[9649,"Male","chr12",109921423,109921423,"A","G","Het","Dmis","Paternal_inheritance","UBE3B","nonsynonymous SNV","UBE3B:NM_001270449:exon3:c.67A>G:p.R23G,UBE3B:NM_001270450:exon3:c.67A>G:p.R23G,UBE3B:NM_001270451:exon3:c.67A>G:p.R23G,UBE3B:NM_130466:exon3:c.67A>G:p.R23G,UBE3B:NM_183415:exon3:c.67A>G:p.R23G","ubiquitin protein ligase E3B","-2.422919179 (1.16925%)","0.009387706(55.1605%)","12q24.11","-","0.877:D","-","-","-","-"]
[9673,"Male","chr17",73513092,73513092,"G","A","Het","Dmis","Paternal_inheritance","TSEN54","nonsynonymous SNV","TSEN54:NM_207346:exon3:c.224G>A:p.G75D","tRNA splicing endonuclease subunit 54","1.744697053 (97.3489%)","1.76E-05(76.5706%)","17q25.1","-","0.894:D",0,{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
[9685,"Male","chr8",141034035,141034035,"T","A","Het","Dmis","Paternal_inheritance","TRAPPC9","nonsynonymous SNV;potential splicing","TRAPPC9:NM_001321646:exon17:c.2671A>T:p.S891C,TRAPPC9:NM_001160372:exon18:c.2698A>T:p.S900C,TRAPPC9:NM_031466:exon18:c.2992A>T:p.S998C","-","-","5.76E-06(79.2209%)","8q24.3","-","0.675:T","-","-","-","-"]
[9703,"Female","chr2",50765565,50765565,"G","C","Het","Dmis","Paternal_inheritance","NRXN1","nonsynonymous SNV","NRXN1:NM_001330087:exon6:c.1885C>G:p.R629G,NRXN1:NM_001330096:exon6:c.1885C>G:p.R629G,NRXN1:NM_001330083:exon7:c.1930C>G:p.R644G,NRXN1:NM_001330084:exon7:c.1930C>G:p.R644G,NRXN1:NM_001330088:exon7:c.1915C>G:p.R639G,NRXN1:NM_001330077:exon9:c.1945C>G:p.R649G,NRXN1:NM_001330082:exon9:c.1945C>G:p.R649G,NRXN1:NM_001330094:exon9:c.1957C>G:p.R653G,NRXN1:NM_001330095:exon9:c.1945C>G:p.R649G,NRXN1:NM_001330078:exon10:c.1969C>G:p.R657G,NRXN1:NM_001330085:exon10:c.1969C>G:p.R657G,NRXN1:NM_001330086:exon10:c.1969C>G:p.R657G,NRXN1:NM_001330093:exon10:c.1966C>G:p.R656G,NRXN1:NM_004801:exon10:c.1969C>G:p.R657G,NRXN1:NM_001135659:exon11:c.2089C>G:p.R697G","neurexin 1","-1.883401977 (2.29799%)","0.999948738(3.2209%)","2p16.3","-","0.945:D","-","-","-","-"]
["A599","Male","chr2",171709259,171709259,"T","C","Het","Dmis","Paternal_inheritance","GAD1","nonsynonymous SNV","GAD1:NM_000817:exon13:c.1220T>C:p.M407T","glutamate decarboxylase 1","-0.70266912 (15.4492%)","0.822540153(20.8450%)","2q31.1","-","0.971:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A867","Male","chr17",78188864,78188864,"G","A","Het","Dmis","Paternal_inheritance","SGSH","nonsynonymous SNV","SGSH:NM_000199:exon3:c.323C>T:p.P108L","N-sulfoglucosamine sulfohydrolase","1.137890968 (92.834%)","0.00010579(71.6269%)","17q25.3","rs762164487","0.921:D",{"v":4.09e-06,"d":"4.09E-06"},0,"-","-"]
["s4603","Male","chr8",131793094,131793094,"C","T","Het","Dmis","Paternal_inheritance","ADCY8","nonsynonymous SNV","ADCY8:NM_001115:exon18:c.3298G>A:p.V1100I","adenylate cyclase 8 (brain)","-1.761902552 (2.71475%)","0.002985662(60.2853%)","8q24.22","rs751510726","0.842:D",{"v":8.14E-6,"d":"8.14E-06"},0,"-","-"]
["s4609","Male","chr4",114203856,114203856,"C","T","Het","Dmis","Paternal_inheritance","ANK2","nonsynonymous SNV","ANK2:NM_001148:exon18:c.1907C>T:p.A636V,ANK2:NM_020977:exon18:c.1907C>T:p.A636V,ANK2:NM_001127493:exon19:c.1844C>T:p.A615V","ankyrin 2, neuronal","-2.975174634 (0.706182%)","1(0.1646%)","4q26","-","0.979:D","-","-","-","-"]
["s4612","Male","chr2",230670571,230670571,"A","G","Het","Dmis","Paternal_inheritance","TRIP12","nonsynonymous SNV","TRIP12:NM_001284216:exon15:c.1490T>C:p.I497T,TRIP12:NM_001284215:exon17:c.2399T>C:p.I800T,TRIP12:NM_001348316:exon17:c.2399T>C:p.I800T,TRIP12:NM_001348317:exon17:c.2399T>C:p.I800T,TRIP12:NM_001348318:exon17:c.2399T>C:p.I800T,TRIP12:NM_001348319:exon18:c.2525T>C:p.I842T,TRIP12:NM_001348320:exon18:c.2525T>C:p.I842T,TRIP12:NM_001348321:exon18:c.2528T>C:p.I843T,TRIP12:NM_001348323:exon18:c.2525T>C:p.I842T,TRIP12:NM_001348324:exon18:c.2525T>C:p.I842T,TRIP12:NM_001348326:exon18:c.2525T>C:p.I842T,TRIP12:NM_001348327:exon18:c.2525T>C:p.I842T,TRIP12:NM_001348328:exon18:c.2528T>C:p.I843T,TRIP12:NM_001348329:exon18:c.2528T>C:p.I843T,TRIP12:NM_001348330:exon18:c.2528T>C:p.I843T,TRIP12:NM_001348322:exon19:c.2525T>C:p.I842T,TRIP12:NM_001348325:exon19:c.2525T>C:p.I842T,TRIP12:NM_001348332:exon19:c.2438T>C:p.I813T","thyroid hormone receptor interactor 12","-3.20710999 (0.567261%)","1(0.2140%)","2q36.3","-","0.834:D","-","-","-","-"]
["s4618","Male","chr1",42048494,42048494,"C","T","Het","Dmis","Paternal_inheritance","HIVEP3","nonsynonymous SNV","HIVEP3:NM_001127714:exon3:c.1975G>A:p.E659K,HIVEP3:NM_024503:exon4:c.1975G>A:p.E659K","human immunodeficiency virus type I enhancer binding protein 3","0.715684558 (85.2628%)","0.030810602(49.4486%)","1p34.2","rs373985538","0.722:D",{"v":2.84e-05,"d":"2.84E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["s4618","Male","chr9",140705956,140705956,"T","A","Het","Dmis","Paternal_inheritance","EHMT1","nonsynonymous SNV","EHMT1:NM_024757:exon19:c.2756T>A:p.V919E","euchromatic histone-lysine N-methyltransferase 1","-2.086730518 (1.73072%)","0.999999904(1.0809%)","9q34.3","rs755525365","0.822:D","-","-","-","-"]
["s4621","Male","chr9",399231,399231,"T","C","Het","Dmis","Paternal_inheritance","DOCK8","nonsynonymous SNV","DOCK8:NM_001190458:exon24:c.2906T>C:p.F969S,DOCK8:NM_001193536:exon25:c.3002T>C:p.F1001S,DOCK8:NM_203447:exon26:c.3206T>C:p.F1069S","dedicator of cytokinesis 8","-0.828277355 (12.254%)","0.000135434(70.9410%)","9p24.3","-","0.931:D","-","-","-","-"]
["s5078","Male","chr7",103363589,103363589,"A","G","Het","Dmis","Paternal_inheritance","RELN","nonsynonymous SNV","RELN:NM_005045:exon8:c.803T>C:p.I268T,RELN:NM_173054:exon8:c.803T>C:p.I268T","reelin","-1.431203386 (4.36444%)","1(0.0823%)","7q22.1","-","0.762:D","-","-","-","-"]
["s5105","Male","chr3",2777920,2777920,"C","T","Het","Dmis","Paternal_inheritance","CNTN4","nonsynonymous SNV","CNTN4:NM_001206955:exon4:c.77C>T:p.P26L,CNTN4:NM_001350095:exon5:c.77C>T:p.P26L,CNTN4:NM_175607:exon5:c.77C>T:p.P26L","contactin 4","-0.517119498 (21.0986%)","0.996606388(7.6872%)","3p26.3","rs146175469","0.797:D",{"v":2.03e-05,"d":"2.03E-05"},1E-4,"-","-"]
["s5109","Male","chr4",85661559,85661559,"C","A","Het","Dmis","Paternal_inheritance","WDFY3","nonsynonymous SNV","WDFY3:NM_014991:exon39:c.6245G>T:p.R2082I","WD repeat and FYVE domain containing 3","-5.034619678 (0.0984024%)","1(0.0055%)","4q21.23","-","0.896:D","-","-",{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["s5141","Female","chr20",61981790,61981790,"C","A","Het","Dmis","Paternal_inheritance","CHRNA4","nonsynonymous SNV","CHRNA4:NM_000744:exon5:c.973G>T:p.V325F,CHRNA4:NM_001256573:exon5:c.445G>T:p.V149F","cholinergic receptor nicotinic alpha 4 subunit","-1.283796674 (5.63209%)","0.020867888(51.3580%)","20q13.33","-","0.979:D","-","-","-","-"]
["s5144","Male","chr8",37607361,37607361,"A","G","Het","Dmis","Paternal_inheritance","ERLIN2","nonsynonymous SNV","ERLIN2:NM_007175:exon8:c.548A>G:p.Y183C","ER lipid raft associated 2","-0.686736041 (15.9354%)","0.111582005(42.4746%)","8p11.23","rs200762910","0.967:D","-","-","-","-"]
["s5174","Male","chr20",49509093,49509093,"C","T","Het","Dmis","Paternal_inheritance","ADNP","nonsynonymous SNV","ADNP:NM_001282532:exon4:c.2158G>A:p.E720K,ADNP:NM_181442:exon4:c.2158G>A:p.E720K,ADNP:NM_001347511:exon5:c.2158G>A:p.E720K,ADNP:NM_015339:exon5:c.2158G>A:p.E720K,ADNP:NM_001282531:exon6:c.2158G>A:p.E720K","activity-dependent neuroprotector homeobox","-1.542847722 (3.71614%)","0.9989041(5.9753%)","20q13.13","rs958769202","0.744:D","-","-","-","-"]
["s5210","Male","chr17",465905,465905,"C","T","Het","Dmis","Paternal_inheritance","VPS53","nonsynonymous SNV","VPS53:NM_018289:exon13:c.1307G>A:p.G436D,VPS53:NM_001128159:exon14:c.1394G>A:p.G465D","VPS53, GARP complex subunit","-0.837482298 (12.0456%)","5.00E-05(73.8436%)","17p13.3","rs753464621","0.800:D",{"v":8.13e-06,"d":"8.13E-06"},{"v":0,"d":"0.00E+00"},{"v":3.26E-5,"d":"3.26E-05"},0.0006]
["s3221","Male","chr21",41710263,41710263,"T","C","Het","Dmis","Paternal_inheritance","DSCAM","nonsynonymous SNV","DSCAM:NM_001271534:exon8:c.1548A>G:p.I516M,DSCAM:NM_001389:exon8:c.1548A>G:p.I516M","Down syndrome cell adhesion molecule","-4.387829485 (0.185228%)","1(0.4225%)","21q22.2","-","0.786:D","-","-","-","-"]
["s3239","Male","chr16",29825687,29825687,"G","A","Het","Dmis","Paternal_inheritance","PRRT2","nonsynonymous SNV","PRRT2:NM_001256442:exon3:c.913G>A:p.G305R,PRRT2:NM_145239:exon3:c.913G>A:p.G305R","proline rich transmembrane protein 2","0.070222621 (55.2674%)","0.301735693(35.6488%)","16p11.2","rs767799831","0.734:D",{"v":4.15e-06,"d":"4.15E-06"},0,"-","-"]
["s3263","Female","chr18",48581155,48581155,"A","-","Het","PTV","Paternal_inheritance","SMAD4","frameshift deletion","SMAD4:NM_005359:exon5:c.459delA:p.S154Qfs*2","SMAD family member 4","-0.451958419 (23.825%)","0.967432536(13.2675%)","18q21.2","-","-","-","-","-","-"]
["s3272","Female","chr2",230655887,230655887,"G","A","Het","Dmis","Paternal_inheritance","TRIP12","nonsynonymous SNV","TRIP12:NM_001284216:exon27:c.3461C>T:p.T1154M,TRIP12:NM_001284215:exon29:c.4370C>T:p.T1457M,TRIP12:NM_001348316:exon29:c.4370C>T:p.T1457M,TRIP12:NM_001348317:exon29:c.4355C>T:p.T1452M,TRIP12:NM_001348318:exon29:c.4355C>T:p.T1452M,TRIP12:NM_001348331:exon29:c.4274C>T:p.T1425M,TRIP12:NM_004238:exon29:c.4271C>T:p.T1424M,TRIP12:NM_001284214:exon30:c.4415C>T:p.T1472M,TRIP12:NM_001348315:exon30:c.4415C>T:p.T1472M,TRIP12:NM_001348319:exon30:c.4481C>T:p.T1494M,TRIP12:NM_001348320:exon30:c.4481C>T:p.T1494M,TRIP12:NM_001348321:exon30:c.4484C>T:p.T1495M,TRIP12:NM_001348323:exon30:c.4496C>T:p.T1499M,TRIP12:NM_001348324:exon30:c.4496C>T:p.T1499M,TRIP12:NM_001348326:exon30:c.4496C>T:p.T1499M,TRIP12:NM_001348327:exon30:c.4496C>T:p.T1499M,TRIP12:NM_001348328:exon30:c.4499C>T:p.T1500M,TRIP12:NM_001348329:exon30:c.4499C>T:p.T1500M,TRIP12:NM_001348330:exon30:c.4499C>T:p.T1500M,TRIP12:NM_001348333:exon30:c.4418C>T:p.T1473M,TRIP12:NM_001348322:exon31:c.4496C>T:p.T1499M,TRIP12:NM_001348325:exon31:c.4496C>T:p.T1499M,TRIP12:NM_001348332:exon31:c.4394C>T:p.T1465M","thyroid hormone receptor interactor 12","-3.20710999 (0.567261%)","1(0.2140%)","2q36.3","rs762153765","0.778:D",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
["s3287","Female","chr2",44223085,44223085,"A","T","Het","Dmis","Paternal_inheritance","LRPPRC","nonsynonymous SNV","LRPPRC:NM_133259:exon1:c.2T>A:p.M1K","leucine rich pentatricopeptide repeat containing","-1.975309129 (2.06066%)","0.000433778(67.4458%)","2p21","-","0.779:D","-","-","-","-"]
["s3293","Female","chr2",167141179,167141179,"-","C","Het","PTV","Paternal_inheritance","SCN9A","frameshift insertion","SCN9A:NM_002977:exon12:c.1757dupG:p.S587Lfs*14","sodium voltage-gated channel alpha subunit 9","0.192209185 (63.3422%)","9.30E-13(95.2483%)","2q24.3","-","-","-","-","-","-"]
["s3559","Male","chr20",44594327,44594327,"G","A","Het","PTV","Paternal_inheritance","ZNF335","stopgain","ZNF335:NM_022095:exon7:c.1042C>T:p.R348X","zinc finger protein 335","-1.845984248 (2.42533%)","0.006503002(56.8340%)","20q13.12","rs765024829","0.561:T","-","-","-","-"]
["s3576","Female","chr2",149260056,149260056,"C","T","Het","Dmis","Paternal_inheritance","MBD5","nonsynonymous SNV","MBD5:NM_018328:exon13:c.4315C>T:p.R1439C","methyl-CpG binding domain protein 5","-1.988685078 (2.00857%)","0.999852333(4.0604%)","2q23.1","rs767034398","0.781:D",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
["s3582","Male","chr16",9858805,9858805,"C","A","Het","Dmis","Paternal_inheritance","GRIN2A","nonsynonymous SNV;potential splicing","GRIN2A:NM_001134407:exon13:c.2596G>T:p.G866C,GRIN2A:NM_001134408:exon13:c.2596G>T:p.G866C,GRIN2A:NM_000833:exon14:c.2596G>T:p.G866C","-","-","0.998044808(6.8532%)","16p13.2","-","0.936:D","-","-","-","-"]
["s3615","Male","chr2",198352700,198352700,"C","T","Het","Dmis","Paternal_inheritance","HSPD1","nonsynonymous SNV","HSPD1:NM_002156:exon11:c.1451G>A:p.G484D,HSPD1:NM_199440:exon11:c.1451G>A:p.G484D","heat shock protein family D (Hsp60) member 1","-0.312781799 (30.7305%)","0.985208244(10.8477%)","2q33.1","-","0.898:D","-","-","-","-"]
["s3615","Male","chr9",131329111,131329111,"A","T","Het","Dmis","Paternal_inheritance","SPTAN1","nonsynonymous SNV","SPTAN1:NM_001130438:exon2:c.92A>T:p.E31V,SPTAN1:NM_001195532:exon2:c.92A>T:p.E31V,SPTAN1:NM_003127:exon2:c.92A>T:p.E31V","spectrin alpha, non-erythrocytic 1","-4.04482939 (0.272054%)","1(0.1756%)","9q34.11","rs771282535","0.762:D",{"v":8.12e-06,"d":"8.12E-06"},1E-4,"-","-"]
["s3615","Male","chr2",210693990,210693990,"A","T","Het","Dmis","Paternal_inheritance","UNC80","nonsynonymous SNV","UNC80:NM_032504:exon15:c.2513A>T:p.D838V,UNC80:NM_182587:exon15:c.2498A>T:p.D833V","unc-80 homolog, NALCN activator","-","0.139839111(41.0590%)","2q34","-","0.872:D","-","-","-","-"]
["s3615","Male","chr11",71146764,71146764,"C","T","Het","Dmis","Paternal_inheritance","DHCR7","nonsynonymous SNV","DHCR7:NM_001163817:exon9:c.1085G>A:p.R362H,DHCR7:NM_001360:exon9:c.1085G>A:p.R362H","7-dehydrocholesterol reductase","1.480335588 (96.0755%)","5.04E-08(86.9026%)","11q13.4","rs142213147","0.948:D",{"v":4.1E-5,"d":"4.10E-05"},{"v":5.82e-05,"d":"5.82E-05"},{"v":3.23e-05,"d":"3.23E-05"},0]
["s3588","Male","chr16",2121877,2121877,"G","A","Het","Dmis","Paternal_inheritance","TSC2","nonsynonymous SNV","TSC2:NM_001318831:exon16:c.1439G>A:p.R480Q,TSC2:NM_001318827:exon18:c.1928G>A:p.R643Q,TSC2:NM_001318829:exon18:c.1892G>A:p.R631Q,TSC2:NM_000548:exon19:c.2039G>A:p.R680Q,TSC2:NM_001077183:exon19:c.2039G>A:p.R680Q,TSC2:NM_001114382:exon19:c.2039G>A:p.R680Q,TSC2:NM_001318832:exon19:c.2072G>A:p.R691Q","tuberous sclerosis 2","-2.944580835 (0.729335%)","0.999999983(0.8176%)","16p13.3","rs756536921","0.858:D",{"v":1.88E-5,"d":"1.88E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["s3621","Male","chr12",111745052,111745052,"C","T","Het","Dmis","Paternal_inheritance","CUX2","nonsynonymous SNV","CUX2:NM_015267:exon12:c.1100C>T:p.T367M","cut like homeobox 2","-1.294628237 (5.52211%)","0.999656385(4.7407%)","12q24.12","-","0.768:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
["s3630","Male","chr6",24503630,24503630,"A","G","Het","Dmis","Paternal_inheritance","ALDH5A1","nonsynonymous SNV","ALDH5A1:NM_001080:exon3:c.578A>G:p.Q193R,ALDH5A1:NM_170740:exon3:c.578A>G:p.Q193R","aldehyde dehydrogenase 5 family member A1","0.362161292 (72.2505%)","0.002904262(60.4335%)","6p22.3","rs772534228","0.968:D",{"v":8.14E-6,"d":"8.14E-06"},1E-4,"-","-"]
["s3630","Male","chr4",134073163,134073163,"G","A","Het","Dmis","Paternal_inheritance","PCDH10","nonsynonymous SNV","PCDH10:NM_020815:exon1:c.1868G>A:p.G623D,PCDH10:NM_032961:exon1:c.1868G>A:p.G623D","protocadherin 10","-2.129264681 (1.6439%)","0.894430213(17.9424%)","4q28.3","-","0.860:D",{"v":4.22e-06,"d":"4.22E-06"},0,"-","-"]
["s3882","Female","chr10",101480757,101480757,"A","-","Het","PTV","Paternal_inheritance","COX15","frameshift deletion","COX15:NM_001320974:exon6:c.819delT:p.T274Rfs*10,COX15:NM_001320975:exon6:c.819delT:p.T274Rfs*85,COX15:NM_001320976:exon6:c.282delT:p.T95Rfs*10,COX15:NM_004376:exon6:c.819delT:p.T274Rfs*10,COX15:NM_078470:exon6:c.819delT:p.T274Rfs*10","COX15 cytochrome c oxidase assembly homolog","0.184559793 (62.9081%)","2.16E-09(90.3813%)","10q24.2","rs757975752","-",{"v":4.07E-6,"d":"4.07E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["s3891","Male","chr11",71153347,71153362,"TAGCCGGGTAGAAACT","-","Het","PTV","Paternal_inheritance","DHCR7","frameshift deletion","DHCR7:NM_001163817:exon5:c.359_374del:p.K120Tfs*1,DHCR7:NM_001360:exon5:c.359_374del:p.K120Tfs*1","7-dehydrocholesterol reductase","1.480335588 (96.0755%)","5.04E-08(86.9026%)","11q13.4","rs780955628","-",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
["s4086","Male","chr8",27321411,27321411,"G","T","Het","PTV","Paternal_inheritance","CHRNA2","stopgain","CHRNA2:NM_000742:exon6:c.549C>A:p.C183X,CHRNA2:NM_001282455:exon6:c.504C>A:p.C168X,CHRNA2:NM_001347705:exon6:c.72C>A:p.C24X,CHRNA2:NM_001347706:exon6:c.72C>A:p.C24X","cholinergic receptor nicotinic alpha 2 subunit","-1.014313559 (8.83885%)","0.001766479(62.3429%)","8p21.2","-","0.589:T",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
["s4086","Male","chr2",127958826,127958826,"G","T","Het","Dmis","Paternal_inheritance","CYP27C1","nonsynonymous SNV","CYP27C1:NM_001001665:exon3:c.260C>A:p.A87D","cytochrome P450 family 27 subfamily C member 1","-0.886995467 (11.0558%)","0.000184567(70.0137%)","2q14.3","-","0.871:D","-","-","-","-"]
["s4113","Female","chr2",171716358,171716358,"T","C","Het","Dmis","Paternal_inheritance","GAD1","nonsynonymous SNV","GAD1:NM_000817:exon17:c.1751T>C:p.I584T","glutamate decarboxylase 1","-0.70266912 (15.4492%)","0.822540153(20.8450%)","2q31.1","rs562769154","0.738:D","-","-","-","-"]
["s4118","Female","chr16",2110728,2110728,"C","T","Het","Dmis","Paternal_inheritance","TSC2","nonsynonymous SNV","TSC2:NM_001318831:exon8:c.433C>T:p.L145F,TSC2:NM_001318827:exon10:c.922C>T:p.L308F,TSC2:NM_001318829:exon10:c.886C>T:p.L296F,TSC2:NM_000548:exon11:c.1033C>T:p.L345F,TSC2:NM_001077183:exon11:c.1033C>T:p.L345F,TSC2:NM_001114382:exon11:c.1033C>T:p.L345F,TSC2:NM_001318832:exon11:c.1066C>T:p.L356F","tuberous sclerosis 2","-2.944580835 (0.729335%)","0.999999983(0.8176%)","16p13.3","rs397515146","0.913:D",{"v":8.12e-06,"d":"8.12E-06"},{"v":1E-4,"d":"1.00E-04"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["s4151","Male","chr3",4711453,4711453,"A","G","Het","Dmis","Paternal_inheritance","ITPR1","nonsynonymous SNV","ITPR1:NM_001168272:exon18:c.1957A>G:p.T653A,ITPR1:NM_002222:exon18:c.1957A>G:p.T653A,ITPR1:NM_001099952:exon19:c.2002A>G:p.T668A","inositol 1,4,5-trisphosphate receptor type 1","-4.625568658 (0.138921%)","1(0.2689%)","3p26.1","-","0.986:D","-","-","-","-"]
["s4195","Male","chr19",46283202,46283205,"TCTG","-","Het","PTV","Paternal_inheritance","DMPK","frameshift deletion","DMPK:NM_001081563:exon1:c.113_116del:p.T38Rfs*30","dystrophia myotonica protein kinase","-0.218128743 (36.0037%)","0.033081179(49.1687%)","19q13.32","rs761384159","-",{"v":2.66e-05,"d":"2.66E-05"},{"v":1E-4,"d":"1.00E-04"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["s4201","Male","chr11",66457589,66457589,"G","C","Het","Dmis","Paternal_inheritance","SPTBN2","nonsynonymous SNV","SPTBN2:NM_006946:exon27:c.5731C>G:p.R1911G","spectrin beta, non-erythrocytic 2","-3.346725582 (0.509377%)","0.999977957(2.8313%)","11q13.2","-","0.890:D","-","-","-","-"]
["s4207","Female","chr15",44856878,44856878,"C","A","Het","Dmis","Paternal_inheritance","SPG11","nonsynonymous SNV","SPG11:NM_001160227:exon37:c.6679G>T:p.A2227S,SPG11:NM_025137:exon39:c.7018G>T:p.A2340S","spastic paraplegia 11 (autosomal recessive)","-1.551577083 (3.66404%)","2.91E-22(99.0069%)","15q21.1","-","0.903:D","-","-","-","-"]
["s4210","Male","chr5",14488161,14488161,"C","G","Het","Dmis","Paternal_inheritance","TRIO","nonsynonymous SNV","TRIO:NM_007118:exon48:c.7424C>G:p.P2475R","trio Rho guanine nucleotide exchange factor","-4.532800748 (0.150498%)","1(0.1536%)","5p15.2","rs768715447","0.886:D",{"v":1.79e-05,"d":"1.79E-05"},{"v":5.99e-05,"d":"5.99E-05"},"-","-"]
["s4213","Male","chr11",64428252,64428252,"C","T","Het","Dmis","Paternal_inheritance","NRXN2","nonsynonymous SNV","NRXN2:NM_138732:exon9:c.2065G>A:p.G689S,NRXN2:NM_015080:exon10:c.2158G>A:p.G720S","neurexin 2","-3.073708586 (0.654087%)","0.999895574(3.7421%)","11q13.1","rs758853226","0.915:D",0,0,"-","-"]
["s4213","Male","chr3",4808230,4808230,"G","A","Het","Dmis","Paternal_inheritance","ITPR1","nonsynonymous SNV","ITPR1:NM_002222:exon41:c.5372G>A:p.R1791H,ITPR1:NM_001099952:exon42:c.5417G>A:p.R1806H,ITPR1:NM_001168272:exon44:c.5516G>A:p.R1839H","inositol 1,4,5-trisphosphate receptor type 1","-4.625568658 (0.138921%)","1(0.2689%)","3p26.1","rs375517463","0.848:D",{"v":8.13e-06,"d":"8.13E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["s4408","Male","chr2",74077630,74077630,"G","C","Het","Dmis","Paternal_inheritance","STAMBP","nonsynonymous SNV","STAMBP:NM_201647:exon7:c.995G>C:p.G332A,STAMBP:NM_213622:exon7:c.995G>C:p.G332A,STAMBP:NM_006463:exon8:c.995G>C:p.G332A","STAM binding protein","0.053665262 (54.1561%)","0.001430273(63.1770%)","2p13.1","-","0.966:D","-","-","-","-"]
[5896,"Male","chr5",170668111,170668111,"A","C","Het","Dmis","Paternal_inheritance","RANBP17","nonsynonymous SNV","RANBP17:NM_022897:exon23:c.2602A>C:p.K868Q","RAN binding protein 17","0.062242183 (54.758%)","8.61E-36(99.7970%)","5q35.1","rs758694370","0.770:D",{"v":4.07E-6,"d":"4.07E-06"},{"v":5.8E-5,"d":"5.80E-05"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
[4086,"Male","chr8",27321411,27321411,"G","T","Het","PTV","Paternal_inheritance","CHRNA2","stopgain","CHRNA2:NM_000742:exon6:c.549C>A:p.C183X,CHRNA2:NM_001282455:exon6:c.504C>A:p.C168X,CHRNA2:NM_001347705:exon6:c.72C>A:p.C24X,CHRNA2:NM_001347706:exon6:c.72C>A:p.C24X","cholinergic receptor nicotinic alpha 2 subunit","-1.014313559 (8.83885%)","0.001766479(62.3429%)","8p21.2","-","0.589:T",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
[4086,"Male","chr15",66832464,66832465,"AT","-","Het","PTV","Paternal_inheritance","ZWILCH","frameshift deletion","ZWILCH:NM_001287822:exon16:c.1261_1262del:p.Y422fs*0,ZWILCH:NM_001287823:exon16:c.1261_1262del:p.Y422fs*0,ZWILCH:NM_001287821:exon17:c.1261_1262del:p.Y422fs*0,ZWILCH:NM_017975:exon17:c.1603_1604del:p.Y536fs*0","zwilch kinetochore protein","0.215328279 (64.5867%)","8.31E-06(78.4746%)","15q22.31","-","-","-","-","-","-"]
[4086,"Male","chr2",127958826,127958826,"G","T","Het","Dmis","Paternal_inheritance","CYP27C1","nonsynonymous SNV","CYP27C1:NM_001001665:exon3:c.260C>A:p.A87D","cytochrome P450 family 27 subfamily C member 1","-0.886995467 (11.0558%)","0.000184567(70.0137%)","2q14.3","-","0.871:D","-","-","-","-"]
[5760,"Male","chr15",63901459,63901459,"C","G","Het","Dmis","Paternal_inheritance","HERC1","nonsynonymous SNV","HERC1:NM_003922:exon78:c.14407G>C:p.D4803H","HECT and RLD domain containing E3 ubiquitin protein ligase family member 1","-6.429196083 (0.0578838%)","1(0.2359%)","15q22.31","-","0.851:D","-","-","-","-"]
[5760,"Male","chr10",97626015,97626015,"-","CACCTCTCTCCCACTC","Het","PTV","Paternal_inheritance","ENTPD1","frameshift insertion","ENTPD1:NM_001164183:exon8:c.994_995insCACCTCTCTCCCACTC:p.Y339Sfs*50,ENTPD1:NM_001164181:exon9:c.1084_1085insCACCTCTCTCCCACTC:p.Y369Sfs*50,ENTPD1:NM_001164182:exon9:c.994_995insCACCTCTCTCCCACTC:p.Y339Sfs*50,ENTPD1:NM_001098175:exon10:c.1429_1430insCACCTCTCTCCCACTC:p.Y484Sfs*50,ENTPD1:NM_001164178:exon10:c.1444_1445insCACCTCTCTCCCACTC:p.Y489Sfs*50,ENTPD1:NM_001164179:exon10:c.1285_1286insCACCTCTCTCCCACTC:p.Y436Sfs*50,ENTPD1:NM_001312654:exon10:c.1084_1085insCACCTCTCTCCCACTC:p.Y369Sfs*50,ENTPD1:NM_001776:exon10:c.1408_1409insCACCTCTCTCCCACTC:p.Y477Sfs*50","ectonucleoside triphosphate diphosphohydrolase 1","-0.30981484 (30.9215%)","0.519393999(29.4486%)","10q24.1","-","-","-","-","-","-"]
[5942,"Female","chr11",2187233,2187233,"G","A","Het","Dmis","Paternal_inheritance","TH","nonsynonymous SNV;potential splicing","TH:NM_000360:exon10:c.1103C>T:p.T368M,TH:NM_199292:exon11:c.1196C>T:p.T399M,TH:NM_199293:exon11:c.1184C>T:p.T395M","-","-","0.004098744(58.9355%)","11p15.5","rs1057520384","0.983:D",{"v":6.09e-06,"d":"6.09E-06"},{"v":8.26e-05,"d":"8.26E-05"},{"v":3.24e-05,"d":"3.24E-05"},0]
[5955,"Female","chr9",135798737,135798737,"G","T","Het","Dmis","Paternal_inheritance","TSC1","nonsynonymous SNV","TSC1:NM_001162427:exon5:c.353C>A:p.P118Q,TSC1:NM_000368:exon6:c.506C>A:p.P169Q,TSC1:NM_001162426:exon6:c.506C>A:p.P169Q","tuberous sclerosis 1","-0.568972928 (19.4605%)","0.999978334(2.8148%)","9q34.13","rs767215560","0.923:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[6009,"Male","chr18",3534476,3534476,"C","A","Het","Dmis","Paternal_inheritance","DLGAP1","nonsynonymous SNV","DLGAP1:NM_001003809:exon7:c.1289G>T:p.R430L,DLGAP1:NM_001242762:exon7:c.1247G>T:p.R416L,DLGAP1:NM_001242764:exon7:c.1313G>T:p.R438L,DLGAP1:NM_001242765:exon7:c.1289G>T:p.R430L,DLGAP1:NM_001242763:exon8:c.1361G>T:p.R454L,DLGAP1:NM_001242766:exon8:c.1319G>T:p.R440L,DLGAP1:NM_001308390:exon8:c.1343G>T:p.R448L,DLGAP1:NM_001242761:exon10:c.2195G>T:p.R732L,DLGAP1:NM_004746:exon10:c.2195G>T:p.R732L","discs large homolog associated protein 1","-2.152531033 (1.60917%)","0.993045514(9.1029%)","18p11.31","-","0.794:D","-","-","-","-"]
[6834,"Male","chr18",19395649,19395649,"C","T","Het","PTV","Paternal_inheritance","MIB1","stopgain","MIB1:NM_020774:exon11:c.1552C>T:p.R518X","mindbomb E3 ubiquitin protein ligase 1","-2.266121929 (1.38342%)","1.00E-44(99.9232%)","18q11.2","rs769209279","0.716:D",{"v":2.84e-05,"d":"2.84E-05"},{"v":0,"d":"0.00E+00"},{"v":9.69e-05,"d":"9.69E-05"},0.0006]
[6834,"Male","chr9",134382787,134382787,"C","T","Het","Dmis","Paternal_inheritance","POMT1","nonsynonymous SNV","POMT1:NM_001077366:exon4:c.151C>T:p.R51C,POMT1:NM_001077365:exon5:c.313C>T:p.R105C,POMT1:NM_001136113:exon5:c.313C>T:p.R105C,POMT1:NM_007171:exon5:c.313C>T:p.R105C","protein O-mannosyltransferase 1","-0.459778865 (23.4719%)","5.00E-10(91.7092%)","9q34.13","-","0.996:D",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
[6798,"Male","chr6",157520021,157520021,"G","A","Het","Dmis","Paternal_inheritance","ARID1B","nonsynonymous SNV","ARID1B:NM_017519:exon16:c.4051G>A:p.G1351S,ARID1B:NM_001346813:exon17:c.4210G>A:p.G1404S,ARID1B:NM_020732:exon17:c.4090G>A:p.G1364S","AT-rich interaction domain 1B","-2.205109578 (1.51655%)","0.99994993(3.2099%)","6q25.3","rs151115781","0.760:D",{"v":3.5e-05,"d":"3.50E-05"},{"v":6.03e-05,"d":"6.03E-05"},{"v":3.23e-05,"d":"3.23E-05"},0]
[6798,"Male","chr17",41898297,41898297,"G","A","Het","PTV","Paternal_inheritance","MPP3","stopgain","MPP3:NM_001330233:exon11:c.889C>T:p.Q297X,MPP3:NM_001932:exon11:c.814C>T:p.Q272X","membrane protein, palmitoylated 3","-0.291072786 (31.7319%)","2.00E-05(76.1920%)","17q21.31","-","0.815:D","-","-","-","-"]
[6750,"Male","chr8",131964216,131964216,"C","T","Het","Dmis","Paternal_inheritance","ADCY8","nonsynonymous SNV","ADCY8:NM_001115:exon3:c.1139G>A:p.R380Q","adenylate cyclase 8 (brain)","-1.761902552 (2.71475%)","0.002985662(60.2853%)","8q24.22","rs373225005","0.827:D",{"v":3.26E-5,"d":"3.26E-05"},1E-4,"-","-"]
[6750,"Male","chr8",41806811,41806811,"T","C","Het","Dmis","Paternal_inheritance","KAT6A","nonsynonymous SNV","KAT6A:NM_001305878:exon10:c.1669A>G:p.M557V,KAT6A:NM_006766:exon10:c.1669A>G:p.M557V","lysine acetyltransferase 6A","-1.760216882 (2.72054%)","0.999999985(0.8011%)","8p11.21","-","0.804:D","-","-","-","-"]
[6723,"Male","chr9",744515,744515,"G","A","Het","Dmis","Paternal_inheritance","KANK1","nonsynonymous SNV","KANK1:NM_153186:exon10:c.3448G>A:p.A1150T,KANK1:NM_015158:exon11:c.3922G>A:p.A1308T,KANK1:NM_001256877:exon12:c.3922G>A:p.A1308T,KANK1:NM_001256876:exon15:c.3922G>A:p.A1308T","KN motif and ankyrin repeat domains 1","-0.117437522 (42.1104%)","-","9p24.3","rs781145505","0.940:D",{"v":4.06e-05,"d":"4.06E-05"},{"v":0,"d":"0.00E+00"},{"v":6.46e-05,"d":"6.46E-05"},0]
[6723,"Male","chr10",104849539,104849539,"G","A","Het","Dmis","Paternal_inheritance","NT5C2","nonsynonymous SNV","NT5C2:NM_001351181:exon16:c.1003C>T:p.R335W,NT5C2:NM_001351174:exon17:c.1489C>T:p.R497W,NT5C2:NM_001351183:exon17:c.1003C>T:p.R335W,NT5C2:NM_001351191:exon17:c.1003C>T:p.R335W,NT5C2:NM_001134373:exon18:c.1576C>T:p.R526W,NT5C2:NM_001351176:exon18:c.1003C>T:p.R335W,NT5C2:NM_001351180:exon18:c.1003C>T:p.R335W,NT5C2:NM_001351192:exon18:c.1003C>T:p.R335W,NT5C2:NM_001351194:exon18:c.862C>T:p.R288W,NT5C2:NM_001351169:exon19:c.1576C>T:p.R526W,NT5C2:NM_001351170:exon19:c.1600C>T:p.R534W,NT5C2:NM_001351173:exon19:c.1600C>T:p.R534W,NT5C2:NM_001351177:exon19:c.1003C>T:p.R335W,NT5C2:NM_001351184:exon19:c.1003C>T:p.R335W,NT5C2:NM_001351185:exon19:c.1003C>T:p.R335W,NT5C2:NM_001351188:exon19:c.1003C>T:p.R335W,NT5C2:NM_001351189:exon19:c.1003C>T:p.R335W,NT5C2:NM_001351190:exon19:c.1003C>T:p.R335W,NT5C2:NM_001351193:exon19:c.1003C>T:p.R335W,NT5C2:NM_012229:exon19:c.1576C>T:p.R526W,NT5C2:NM_001351171:exon20:c.1600C>T:p.R534W,NT5C2:NM_001351172:exon20:c.1600C>T:p.R534W,NT5C2:NM_001351175:exon20:c.1483C>T:p.R495W,NT5C2:NM_001351179:exon20:c.1003C>T:p.R335W,NT5C2:NM_001351182:exon20:c.1003C>T:p.R335W,NT5C2:NM_001351195:exon20:c.862C>T:p.R288W,NT5C2:NM_001351197:exon20:c.1003C>T:p.R335W,NT5C2:NM_001351178:exon21:c.1003C>T:p.R335W,NT5C2:NM_001351186:exon21:c.1003C>T:p.R335W,NT5C2:NM_001351196:exon21:c.862C>T:p.R288W,NT5C2:NM_001351187:exon22:c.1003C>T:p.R335W","5'-nucleotidase, cytosolic II","-0.552085504 (19.9583%)","0.052197863(46.7051%)","10q24.32","rs745326714","0.778:D",{"v":8.12e-06,"d":"8.12E-06"},0,"-","-"]
[6708,"Male","chr2",225400312,225400312,"G","A","Het","Dmis","Paternal_inheritance","CUL3","nonsynonymous SNV","CUL3:NM_001257197:exon2:c.113C>T:p.T38M,CUL3:NM_001257198:exon3:c.329C>T:p.T110M,CUL3:NM_003590:exon3:c.311C>T:p.T104M","cullin 3","-0.97728657 (9.39454%)","0.974063405(12.4774%)","2q36.2","rs768929186","0.796:D",{"v":1.22E-5,"d":"1.22E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
[7102,"Male","chr12",52139748,52139748,"A","G","Het","Dmis","Paternal_inheritance","SCN8A","nonsynonymous SNV","SCN8A:NM_001177984:exon13:c.2060A>G:p.Q687R,SCN8A:NM_001330260:exon13:c.2060A>G:p.Q687R,SCN8A:NM_014191:exon13:c.2060A>G:p.Q687R","sodium voltage-gated channel alpha subunit 8","-3.087082536 (0.64251%)","0.99999829(1.8656%)","12q13.13","rs181076505","0.904:D",{"v":4.08e-06,"d":"4.08E-06"},{"v":5.82e-05,"d":"5.82E-05"},{"v":3.24e-05,"d":"3.24E-05"},0.0006]
[7108,"Male","chr3",136016864,136016864,"-","C","Het","PTV","Paternal_inheritance","PCCB","frameshift insertion","PCCB:NM_000532:exon8:c.835dupC:p.L280Pfs*10,PCCB:NM_001178014:exon9:c.895dupC:p.L300Pfs*10","propionyl-CoA carboxylase beta subunit","0.356066389 (71.9495%)","0.000735839(65.7394%)","3q22.3","-","-",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[7264,"Male","chr13",101182383,101182383,"C","T","Het","Dmis","Paternal_inheritance","PCCA","nonsynonymous SNV","PCCA:NM_001127692:exon23:c.2072C>T:p.T691I,PCCA:NM_001178004:exon23:c.2009C>T:p.T670I,PCCA:NM_000282:exon24:c.2150C>T:p.T717I","propionyl-CoA carboxylase alpha subunit","-0.84576154 (11.8835%)","2.13E-10(92.3512%)","13q32.3","rs548026367","0.829:D",{"v":1.63E-5,"d":"1.63E-05"},0,"-","-"]
[7267,"Male","chr1",27120709,27120709,"G","A","Het","Dmis","Paternal_inheritance","PIGV","nonsynonymous SNV","PIGV:NM_001202554:exon3:c.184G>A:p.G62S,PIGV:NM_017837:exon3:c.184G>A:p.G62S","phosphatidylinositol glycan anchor biosynthesis class V","-0.393384038 (26.7423%)","7.20E-06(78.8093%)","1p36.11","rs777251503","0.836:D",{"v":2.03e-05,"d":"2.03E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
[7267,"Male","chr9",133932465,133932465,"C","T","Het","PTV","Paternal_inheritance","LAMC3","stopgain","LAMC3:NM_006059:exon12:c.2089C>T:p.Q697X","laminin subunit gamma 3","2.420983809 (99.016%)","9.82E-11(92.8999%)","9q34.12","-","0.416:T","-","-","-","-"]
[7418,"Male","chr6",79679576,79679576,"C","T","Het","Dmis","Paternal_inheritance","PHIP","nonsynonymous SNV","PHIP:NM_017934:exon27:c.3181G>A:p.A1061T","pleckstrin homology domain interacting protein","-2.790384398 (0.827738%)","0.999999948(0.9492%)","6q14.1","-","0.774:D","-","-","-","-"]
[7421,"Male","chr11",114027087,114027087,"G","A","Het","Dmis","Paternal_inheritance","ZBTB16","nonsynonymous SNV","ZBTB16:NM_001018011:exon3:c.1297G>A:p.G433R,ZBTB16:NM_006006:exon3:c.1297G>A:p.G433R","zinc finger and BTB domain containing 16","-0.934485391 (10.1065%)","0.980087306(11.6872%)","11q23.2","rs538741723","0.756:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":0,"d":"0.00E+00"},{"v":6.46e-05,"d":"6.46E-05"},0]
[7445,"Female","chr6",18121801,18121805,"AAGCA","-","Het","PTV","Paternal_inheritance","NHLRC1","frameshift deletion","NHLRC1:NM_198586:exon1:c.1033_1037del:p.C345Rfs*3","NHL repeat containing E3 ubiquitin protein ligase 1","0.301244276 (69.2521%)","0.036006534(48.7682%)","6p22.3","-","-","-","-","-","-"]
[7463,"Male","chr15",44867171,44867171,"-","TTCCAGGTTA","Het","PTV","Paternal_inheritance","SPG11","stopgain","SPG11:NM_025137:exon31:c.5934_5935insTAACCTGGAA:p.V1979fs*0","spastic paraplegia 11 (autosomal recessive)","-1.551577083 (3.66404%)","2.91E-22(99.0069%)","15q21.1","rs749652788","-",{"v":4.07E-6,"d":"4.07E-06"},{"v":5.8E-5,"d":"5.80E-05"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
[7510,"Female","chr20",62038650,62038650,"C","T","Het","Dmis","Paternal_inheritance","KCNQ2","nonsynonymous SNV","KCNQ2:NM_004518:exon15:c.1882G>A:p.E628K,KCNQ2:NM_172106:exon16:c.1912G>A:p.E638K,KCNQ2:NM_172108:exon16:c.1873G>A:p.E625K,KCNQ2:NM_172107:exon17:c.1966G>A:p.E656K","potassium voltage-gated channel subfamily Q member 2","-1.249109188 (5.96782%)","0.999356099(5.3937%)","20q13.33","rs545544936","0.936:D",{"v":4.3e-06,"d":"4.30E-06"},0,"-","-"]
[7527,"Male","chr19",46283202,46283205,"TCTG","-","Het","PTV","Paternal_inheritance","DMPK","frameshift deletion","DMPK:NM_001081563:exon1:c.113_116del:p.T38Rfs*30","dystrophia myotonica protein kinase","-0.218128743 (36.0037%)","0.033081179(49.1687%)","19q13.32","rs761384159","-",{"v":2.66e-05,"d":"2.66E-05"},{"v":1E-4,"d":"1.00E-04"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
[7595,"Male","chr1",45446798,45446798,"G","A","Het","Dmis","Paternal_inheritance","EIF2B3","nonsynonymous SNV","EIF2B3:NM_001166588:exon2:c.43C>T:p.R15W,EIF2B3:NM_001261418:exon2:c.43C>T:p.R15W,EIF2B3:NM_020365:exon2:c.43C>T:p.R15W","eukaryotic translation initiation factor 2B subunit gamma","0.420895505 (74.9305%)","0.393440243(32.8779%)","1p34.1","rs775048786","0.832:D",{"v":8.12e-06,"d":"8.12E-06"},{"v":0,"d":"0.00E+00"},{"v":6.48e-05,"d":"6.48E-05"},0]
[7611,"Female","chr12",124107203,124107203,"C","A","Het","Dmis","Paternal_inheritance","EIF2B1","nonsynonymous SNV","EIF2B1:NM_001414:exon8:c.733G>T:p.D245Y","eukaryotic translation initiation factor 2B subunit alpha","-0.134398656 (40.9875%)","0.104796388(42.7874%)","12q24.31","-","0.946:D","-","-","-","-"]
[6181,"Male","chr1",45444015,45444015,"G","C","Het","Dmis","Paternal_inheritance","EIF2B3","nonsynonymous SNV","EIF2B3:NM_001166588:exon3:c.266C>G:p.S89C,EIF2B3:NM_001261418:exon3:c.266C>G:p.S89C,EIF2B3:NM_020365:exon3:c.266C>G:p.S89C","eukaryotic translation initiation factor 2B subunit gamma","0.420895505 (74.9305%)","0.393440243(32.8779%)","1p34.1","-","0.838:D","-","-","-","-"]
[7774,"Female","chr2",50149098,50149098,"T","C","Het","Dmis","Paternal_inheritance","NRXN1","nonsynonymous SNV","NRXN1:NM_001320156:exon3:c.413A>G:p.K138R,NRXN1:NM_001320157:exon3:c.404A>G:p.K135R,NRXN1:NM_001330097:exon6:c.1304A>G:p.K435R,NRXN1:NM_138735:exon6:c.1313A>G:p.K438R,NRXN1:NM_001330091:exon7:c.1394A>G:p.K465R,NRXN1:NM_001330092:exon7:c.1403A>G:p.K468R,NRXN1:NM_001330087:exon17:c.4307A>G:p.K1436R,NRXN1:NM_001330096:exon17:c.4298A>G:p.K1433R,NRXN1:NM_001330083:exon18:c.4343A>G:p.K1448R,NRXN1:NM_001330088:exon18:c.4328A>G:p.K1443R,NRXN1:NM_001330084:exon19:c.4442A>G:p.K1481R,NRXN1:NM_001330095:exon20:c.4367A>G:p.K1456R,NRXN1:NM_001330077:exon22:c.4484A>G:p.K1495R,NRXN1:NM_001330082:exon22:c.4475A>G:p.K1492R,NRXN1:NM_001330085:exon22:c.4481A>G:p.K1494R,NRXN1:NM_001330094:exon22:c.4487A>G:p.K1496R,NRXN1:NM_004801:exon22:c.4418A>G:p.K1473R,NRXN1:NM_001330078:exon23:c.4508A>G:p.K1503R,NRXN1:NM_001330086:exon23:c.4499A>G:p.K1500R,NRXN1:NM_001330093:exon23:c.4505A>G:p.K1502R,NRXN1:NM_001135659:exon24:c.4628A>G:p.K1543R","neurexin 1","-1.883401977 (2.29799%)","0.999948738(3.2209%)","2p16.3","-","0.720:D","-","-","-","-"]
[7816,"Female","chr14",102476416,102476416,"T","C","Het","Dmis","Paternal_inheritance","DYNC1H1","nonsynonymous SNV","DYNC1H1:NM_001376:exon30:c.6214T>C:p.F2072L","dynein cytoplasmic 1 heavy chain 1","-8.604274631 (0.0115768%)","1(0.0055%)","14q32.31","-","0.798:D","-","-","-","-"]
[7888,"Female","chr15",93557945,93557945,"A","T","Het","Dmis","Paternal_inheritance","CHD2","nonsynonymous SNV","CHD2:NM_001271:exon37:c.4712A>T:p.D1571V","chromodomain helicase DNA binding protein 2","-2.675987475 (0.92614%)","0.999999999(0.5487%)","15q26.1","-","0.820:D","-","-","-","-"]
[7888,"Female","chr6",52354952,52354952,"-","G","Het","PTV","Paternal_inheritance","EFHC1","frameshift insertion","EFHC1:NM_018100:exon10:c.1656dupG:p.D553Gfs*28,EFHC1:NM_001172420:exon11:c.1599dupG:p.D534Gfs*28","EF-hand domain (C-terminal) containing 1","0.83608509 (87.9775%)","5.06E-12(94.6063%)","6p12.2","rs769824283","-",{"v":8.15e-06,"d":"8.15E-06"},1E-4,"-","-"]
[7930,"Male","chr2",167138209,167138209,"A","G","Het","Dmis","Paternal_inheritance","SCN9A","nonsynonymous SNV","SCN9A:NM_002977:exon13:c.2051T>C:p.I684T","sodium voltage-gated channel alpha subunit 9","0.192209185 (63.3422%)","9.30E-13(95.2483%)","2q24.3","rs200599780","0.894:D","-","-","-","-"]
[8003,"Male","chr7",103230092,103230092,"C","T","Het","Dmis","Paternal_inheritance","RELN","nonsynonymous SNV","RELN:NM_005045:exon28:c.4096G>A:p.E1366K,RELN:NM_173054:exon28:c.4096G>A:p.E1366K","reelin","-1.431203386 (4.36444%)","1(0.0823%)","7q22.1","-","0.794:D","-","-","-","-"]
[6129,"Male","chr6",152557969,152557969,"G","A","Het","Dmis","Paternal_inheritance","SYNE1","nonsynonymous SNV","SYNE1:NM_033071:exon108:c.19969C>T:p.R6657C,SYNE1:NM_182961:exon109:c.20182C>T:p.R6728C","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.2","rs150063353","0.806:D",{"v":7.72e-05,"d":"7.72E-05"},{"v":0,"d":"0.00E+00"},{"v":9.69e-05,"d":"9.69E-05"},0]
[6132,"Female","chr8",100155340,100155340,"T","C","Het","Dmis","Paternal_inheritance","VPS13B","nonsynonymous SNV","VPS13B:NM_015243:exon13:c.1790T>C:p.M597T,VPS13B:NM_017890:exon13:c.1790T>C:p.M597T,VPS13B:NM_152564:exon13:c.1790T>C:p.M597T","vacuolar protein sorting 13 homolog B (yeast)","-2.877970131 (0.769854%)","9.81E-27(99.4239%)","8q22.2","-","0.909:D","-","-","-","-"]
[6138,"Male","chr1",155451082,155451082,"A","G","Het","Dmis","Paternal_inheritance","ASH1L","nonsynonymous SNV","ASH1L:NM_018489:exon3:c.1579T>C:p.C527R","ash1 (absent, small, or homeotic)-like (Drosophila)","-3.88480184 (0.312572%)","1(0.1591%)","1q22","-","0.874:D","-","-","-","-"]
[6208,"Female","chr14",102452073,102452073,"A","T","Het","Dmis","Paternal_inheritance","DYNC1H1","nonsynonymous SNV","DYNC1H1:NM_001376:exon8:c.1511A>T:p.D504V","dynein cytoplasmic 1 heavy chain 1","-8.604274631 (0.0115768%)","1(0.0055%)","14q32.31","-","0.772:D","-","-","-","-"]
[6208,"Female","chr15",52476860,52476860,"G","A","Het","Dmis","Paternal_inheritance","GNB5","nonsynonymous SNV","GNB5:NM_016194:exon2:c.14C>T:p.T5I","G protein subunit beta 5","-0.391820636 (26.8118%)","0.001442929(63.1276%)","15q21.2","rs530066063","0.775:D",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
[6303,"Male","chr11",126142964,126142964,"G","A","Het","Dmis","Paternal_inheritance","FOXRED1","nonsynonymous SNV","FOXRED1:NM_017547:exon3:c.407G>A:p.R136Q","FAD-dependent oxidoreductase domain containing 1","-0.00741366 (49.8727%)","4.09E-11(93.4650%)","11q24.2","rs758819066","0.893:D",{"v":1.63E-5,"d":"1.63E-05"},1E-4,"-","-"]
[6294,"Male","chr1",175335089,175335089,"C","T","Het","Dmis","Paternal_inheritance","TNR","nonsynonymous SNV","TNR:NM_001328635:exon11:c.1240G>A:p.G414R,TNR:NM_003285:exon11:c.2239G>A:p.G747R","tenascin R","-0.089910353 (44.148%)","0.987762732(10.4088%)","1q25.1","-","0.916:D","-","-",{"v":3.23e-05,"d":"3.23E-05"},0]
[6294,"Male","chr9",35740962,35740962,"C","T","Het","Dmis","Paternal_inheritance","GBA2","nonsynonymous SNV","GBA2:NM_001330660:exon5:c.886G>A:p.G296S,GBA2:NM_020944:exon5:c.886G>A:p.G296S","glucosidase, beta (bile acid) 2","-0.44853543 (23.9928%)","4.79E-09(89.5748%)","9p13.3","-","0.851:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
[6316,"Male","chr11",119212684,119212684,"A","C","Het","Dmis","Paternal_inheritance","MFRP","nonsynonymous SNV","MFRP:NM_031433:exon12:c.1398T>G:p.C466W","membrane frizzled-related protein","-0.443221077 (24.2417%)","5.34E-08(86.8258%)","11q23.3","-","0.948:D","-","-","-","-"]
[6678,"Male","chr9",133944351,133944351,"A","T","Het","Dmis","Paternal_inheritance","LAMC3","nonsynonymous SNV","LAMC3:NM_006059:exon16:c.2804A>T:p.Q935L","laminin subunit gamma 3","2.420983809 (99.016%)","9.82E-11(92.8999%)","9q34.12","-","0.861:D","-","-","-","-"]
[6364,"Female","chr8",96044275,96044275,"C","T","Het","PTV","Paternal_inheritance","NDUFAF6","stopgain","NDUFAF6:NM_152416:exon2:c.250C>T:p.R84X","NADH:ubiquinone oxidoreductase complex assembly factor 6","-0.018496723 (49.0796%)","2.91E-05(75.2209%)","8q22.1","rs769426063","0.572:T",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
[6368,"Female","chr1",202710709,202710709,"G","A","Het","Dmis","Paternal_inheritance","KDM5B","nonsynonymous SNV","KDM5B:NM_001347591:exon18:c.2596C>T:p.R866C,KDM5B:NM_006618:exon19:c.2731C>T:p.R911C,KDM5B:NM_001314042:exon20:c.2839C>T:p.R947C","lysine demethylase 5B","-2.302644968 (1.34869%)","5.09E-05(73.7723%)","1q32.1","rs762275440","0.823:D",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
[6371,"Male","chr19",54692304,54692304,"A","C","Het","Dmis","Paternal_inheritance","MBOAT7","nonsynonymous SNV","MBOAT7:NM_001146082:exon2:c.59T>G:p.F20C,MBOAT7:NM_024298:exon2:c.59T>G:p.F20C","membrane bound O-acyltransferase domain containing 7","-0.30981484 (30.9331%)","0.046319589(47.3855%)","19q13.42","-","0.786:D","-","-","-","-"]
[6411,"Male","chr1",210856925,210856925,"G","A","Het","Dmis","Paternal_inheritance","KCNH1","nonsynonymous SNV","KCNH1:NM_002238:exon11:c.2587C>T:p.R863C,KCNH1:NM_172362:exon11:c.2668C>T:p.R890C","potassium voltage-gated channel subfamily H member 1","-1.870155529 (2.33272%)","0.33301456(34.7325%)","1q32.2","rs753323310","0.935:D",{"v":1.63E-5,"d":"1.63E-05"},0,"-","-"]
[6583,"Female","chr15",44941194,44941195,"AG","-","Het","PTV","Paternal_inheritance","SPG11","frameshift deletion","SPG11:NM_001160227:exon7:c.1471_1472del:p.L491Dfs*65,SPG11:NM_025137:exon7:c.1471_1472del:p.L491Dfs*65","spastic paraplegia 11 (autosomal recessive)","-1.551577083 (3.66404%)","2.91E-22(99.0069%)","15q21.1","rs312262727","-",{"v":1.63E-5,"d":"1.63E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
[6666,"Male","chr9",740880,740880,"G","A","Het","Dmis","Paternal_inheritance","KANK1","nonsynonymous SNV","KANK1:NM_153186:exon8:c.3168G>A:p.M1056I,KANK1:NM_015158:exon9:c.3642G>A:p.M1214I,KANK1:NM_001256877:exon10:c.3642G>A:p.M1214I,KANK1:NM_001256876:exon13:c.3642G>A:p.M1214I","KN motif and ankyrin repeat domains 1","-0.117437522 (42.1104%)","-","9p24.3","rs750251579","0.766:D",{"v":8.12e-06,"d":"8.12E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[6681,"Female","chr11",45971008,45971008,"C","T","Het","Dmis","Paternal_inheritance","PHF21A","nonsynonymous SNV","PHF21A:NM_001101802:exon12:c.1169G>A:p.R390Q,PHF21A:NM_016621:exon12:c.1172G>A:p.R391Q","PHD finger protein 21A","-0.528811667 (20.6414%)","0.999675486(4.6859%)","11p11.2","-","0.746:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
[6313,"Female","chr5",137542250,137542250,"A","G","Het","Dmis","Paternal_inheritance","CDC23","nonsynonymous SNV","CDC23:NM_004661:exon3:c.358T>C:p.Y120H","cell division cycle 23","-0.684548267 (15.9817%)","0.999307693(5.4705%)","5q31.2","-","0.933:D","-","-","-","-"]
[6592,"Female","chr5",170351465,170351465,"T","C","Het","Dmis","Paternal_inheritance","RANBP17","nonsynonymous SNV","RANBP17:NM_022897:exon12:c.1379T>C:p.L460P","RAN binding protein 17","0.062242183 (54.758%)","8.61E-36(99.7970%)","5q35.1","-","0.960:D","-","-","-","-"]
[6592,"Female","chr14",51081199,51081199,"A","G","Het","Dmis","Paternal_inheritance","ATL1","nonsynonymous SNV","ATL1:NM_015915:exon8:c.832A>G:p.T278A,ATL1:NM_181598:exon8:c.832A>G:p.T278A,ATL1:NM_001127713:exon9:c.832A>G:p.T278A","atlastin GTPase 1","-0.87793545 (11.2005%)","0.992118036(9.3498%)","14q22.1","-","0.846:D","-","-","-","-"]
[6699,"Male","chr6",152457778,152457778,"A","C","Het","Dmis","Paternal_inheritance","SYNE1","nonsynonymous SNV","SYNE1:NM_001347702:exon13:c.2168T>G:p.L723R,SYNE1:NM_001347701:exon14:c.2240T>G:p.L747R,SYNE1:NM_033071:exon141:c.25490T>G:p.L8497R,SYNE1:NM_182961:exon141:c.25634T>G:p.L8545R","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.1","rs549772725","0.989:D",{"v":4.08e-05,"d":"4.08E-05"},0,"-","-"]
[6669,"Female","chr7",82579564,82579564,"G","A","Het","Dmis","Paternal_inheritance","PCLO","nonsynonymous SNV","PCLO:NM_014510:exon6:c.10340C>T:p.T3447M,PCLO:NM_033026:exon6:c.10340C>T:p.T3447M","piccolo presynaptic cytomatrix protein","-2.152098952 (1.61496%)","1(0.2853%)","7q21.11","rs942302843","0.730:D","-","-",{"v":3.24e-05,"d":"3.24E-05"},0]
[6687,"Female","chr2",50765547,50765547,"G","C","Het","Dmis","Paternal_inheritance","NRXN1","nonsynonymous SNV","NRXN1:NM_001330087:exon6:c.1903C>G:p.Q635E,NRXN1:NM_001330096:exon6:c.1903C>G:p.Q635E,NRXN1:NM_001330083:exon7:c.1948C>G:p.Q650E,NRXN1:NM_001330084:exon7:c.1948C>G:p.Q650E,NRXN1:NM_001330088:exon7:c.1933C>G:p.Q645E,NRXN1:NM_001330077:exon9:c.1963C>G:p.Q655E,NRXN1:NM_001330082:exon9:c.1963C>G:p.Q655E,NRXN1:NM_001330094:exon9:c.1975C>G:p.Q659E,NRXN1:NM_001330095:exon9:c.1963C>G:p.Q655E,NRXN1:NM_001330078:exon10:c.1987C>G:p.Q663E,NRXN1:NM_001330085:exon10:c.1987C>G:p.Q663E,NRXN1:NM_001330086:exon10:c.1987C>G:p.Q663E,NRXN1:NM_001330093:exon10:c.1984C>G:p.Q662E,NRXN1:NM_004801:exon10:c.1987C>G:p.Q663E,NRXN1:NM_001135659:exon11:c.2107C>G:p.Q703E","neurexin 1","-1.883401977 (2.29799%)","0.999948738(3.2209%)","2p16.3","-","0.802:D","-","-","-","-"]
[6574,"Male","chr1",220198584,220198584,"G","A","Het","Dmis","Paternal_inheritance","EPRS","nonsynonymous SNV","EPRS:NM_004446:exon7:c.640C>T:p.H214Y","glutamyl-prolyl-tRNA synthetase","-1.756786213 (2.7379%)","3.85E-07(84.0713%)","1q41","-","0.956:D","-","-","-","-"]
[6577,"Male","chr2",233710579,233710579,"C","T","Het","Dmis","Paternal_inheritance","GIGYF2","nonsynonymous SNV","GIGYF2:NM_001103148:exon25:c.3425C>T:p.T1142M,GIGYF2:NM_001103146:exon26:c.3443C>T:p.T1148M,GIGYF2:NM_001103147:exon28:c.3506C>T:p.T1169M,GIGYF2:NM_015575:exon28:c.3443C>T:p.T1148M","GRB10 interacting GYF protein 2","-0.561478054 (19.6226%)","1(0.2908%)","2q37.1","rs756094059","0.751:D",{"v":4.06e-05,"d":"4.06E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
[6577,"Male","chr8",1719428,1719428,"C","T","Het","Dmis","Paternal_inheritance","CLN8","nonsynonymous SNV","CLN8:NM_018941:exon2:c.208C>T:p.R70C","ceroid-lipofuscinosis, neuronal 8","0.469785863 (76.887%)","0.000747073(65.6680%)","8p23.3","rs765097897","0.973:D",{"v":2.03e-05,"d":"2.03E-05"},0,"-","-"]
["8546_TKD180402508-AK3182","Female","chr10",79785478,79785478,"T","C","Het","Dmis","Paternal_inheritance","POLR3A","nonsynonymous SNV","POLR3A:NM_007055:exon3:c.220A>G:p.K74E","polymerase (RNA) III subunit A","-2.256686659 (1.40079%)","7.39E-14(96.1756%)","10q22.3","rs781395386","0.802:D",{"v":8.12e-06,"d":"8.12E-06"},0,"-","-"]
["8588_TKD180402508-AK3196","Female","chrX",6069144,6069144,"C","A","Het","Dmis","Paternal_inheritance","NLGN4X","nonsynonymous SNV","NLGN4X:NM_001282146:exon2:c.364G>T:p.D122Y,NLGN4X:NM_020742:exon2:c.364G>T:p.D122Y,NLGN4X:NM_181332:exon2:c.364G>T:p.D122Y,NLGN4X:NM_001282145:exon3:c.364G>T:p.D122Y","neuroligin 4, X-linked","-1.616285515 (3.2878%)","0.932298559(15.9177%)","Xp22.31","-","0.734:D","-","-","-","-"]
["8655_TKD180402508-AK3162","Male","chr5",167922342,167922342,"C","T","Het","Dmis","Paternal_inheritance","RARS","nonsynonymous SNV","RARS:NM_002887:exon6:c.602C>T:p.P201L","arginyl-tRNA synthetase","0.459160083 (76.4934%)","0.00053365(66.8148%)","5q34","-","0.997:D","-","-","-","-"]
["8661_TKD180402508-AK3163","Male","chr15",63901410,63901410,"G","A","Het","Dmis","Paternal_inheritance","HERC1","nonsynonymous SNV","HERC1:NM_003922:exon78:c.14456C>T:p.P4819L","HECT and RLD domain containing E3 ubiquitin protein ligase family member 1","-6.429196083 (0.0578838%)","1(0.2359%)","15q22.31","rs756534965","0.820:D",{"v":1.23e-05,"d":"1.23E-05"},0,"-","-"]
[8845,"Male","chr20",61981756,61981756,"C","T","Het","Dmis","Paternal_inheritance","CHRNA4","nonsynonymous SNV","CHRNA4:NM_000744:exon5:c.1007G>A:p.R336H,CHRNA4:NM_001256573:exon5:c.479G>A:p.R160H","cholinergic receptor nicotinic alpha 4 subunit","-1.283796674 (5.63209%)","0.020867888(51.3580%)","20q13.33","rs281865068","0.787:D",{"v":2.85e-05,"d":"2.85E-05"},{"v":1E-4,"d":"1.00E-04"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
[8734,"Male","chr10",62029912,62029912,"C","T","Het","Dmis","Paternal_inheritance","ANK3","nonsynonymous SNV","ANK3:NM_001204404:exon5:c.439G>A:p.A147T,ANK3:NM_001320874:exon5:c.490G>A:p.A164T,ANK3:NM_020987:exon5:c.490G>A:p.A164T,ANK3:NM_001204403:exon6:c.472G>A:p.A158T","ankyrin 3, node of Ranvier (ankyrin G)","-5.215169063 (0.0752489%)","1(0.1481%)","10q21.2","-","0.866:D","-","-","-","-"]
[8743,"Female","chr7",107595963,107595963,"G","A","Het","PTV","Paternal_inheritance","LAMB1","stopgain","LAMB1:NM_002291:exon21:c.2803C>T:p.Q935X","laminin subunit beta 1","-1.235752647 (6.17041%)","1.79E-06(81.4540%)","7q31.1","-","0.748:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
[8878,"Male","chr15",44951388,44951388,"-","A","Het","PTV","Paternal_inheritance","SPG11","stopgain","SPG11:NM_001160227:exon3:c.555dupT:p.R186fs*0,SPG11:NM_025137:exon3:c.555dupT:p.R186fs*0","spastic paraplegia 11 (autosomal recessive)","-1.551577083 (3.66404%)","2.91E-22(99.0069%)","15q21.1","-","-","-","-","-","-"]
[9043,"Male","chr9",130425566,130425566,"G","A","Het","Dmis","Paternal_inheritance","STXBP1","nonsynonymous SNV","STXBP1:NM_001032221:exon7:c.512G>A:p.R171H,STXBP1:NM_003165:exon7:c.512G>A:p.R171H","syntaxin binding protein 1","-0.720632494 (14.9456%)","0.999882943(3.8519%)","9q34.11","rs773211322","0.913:D",{"v":2.84e-05,"d":"2.84E-05"},0,"-","-"]
[9265,"Female","chr20",19945617,19945617,"G","A","Het","Dmis","Paternal_inheritance","RIN2","nonsynonymous SNV","RIN2:NM_018993:exon5:c.485G>A:p.G162E,RIN2:NM_001242581:exon6:c.632G>A:p.G211E","Ras and Rab interactor 2","1.634546223 (96.9611%)","0.008295585(55.6598%)","20p11.23","rs776841443","0.733:D",{"v":8.13e-06,"d":"8.13E-06"},0,"-","-"]
[9287,"Female","chr10",61836008,61836008,"G","A","Het","Dmis","Paternal_inheritance","ANK3","nonsynonymous SNV","ANK3:NM_020987:exon37:c.4631C>T:p.S1544L","ankyrin 3, node of Ranvier (ankyrin G)","-5.215169063 (0.0752489%)","1(0.1481%)","10q21.2","rs754585055","0.712:D",{"v":1.22E-5,"d":"1.22E-05"},0,1E-4,0]
[9287,"Female","chr15",28387401,28387401,"G","A","Het","Dmis","Paternal_inheritance","HERC2","nonsynonymous SNV","HERC2:NM_004667:exon76:c.11683C>T:p.R3895C","HECT and RLD domain containing E3 ubiquitin protein ligase 2","-4.457155603 (0.162075%)","1(0.0055%)","15q13.1","rs372855047","0.770:D",{"v":2.44E-5,"d":"2.44E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[9294,"Male","chr6",72892643,72892643,"-","T","Het","PTV","Paternal_inheritance","RIMS1","frameshift insertion","RIMS1:NM_014989:exon6:c.1469_1470insT:p.E490Dfs*44","regulating synaptic membrane exocytosis 1","-1.734102772 (2.83052%)","0.029211449(49.7558%)","6q13","-","-","-","-","-","-"]
[9299,"Male","chr1",100572539,100572539,"A","G","Het","Dmis","Paternal_inheritance","SASS6","nonsynonymous SNV","SASS6:NM_001304829:exon11:c.836T>C:p.L279S,SASS6:NM_194292:exon12:c.1337T>C:p.L446S","SAS-6 centriolar assembly protein","-0.558960442 (19.6921%)","5.00E-05(73.8381%)","1p21.2","-","0.862:D","-","-","-","-"]
[9311,"Male","chr14",75475887,75475887,"T","C","Het","Dmis","Paternal_inheritance","EIF2B2","nonsynonymous SNV","EIF2B2:NM_014239:exon8:c.1052T>C:p.L351S","eukaryotic translation initiation factor 2B subunit beta","-0.382760448 (27.1938%)","0.000428256(67.4897%)","14q24.3","rs778740286","0.909:D",{"v":8.12e-06,"d":"8.12E-06"},1E-4,"-","-"]
[9350,"Female","chr1",40431535,40431535,"C","T","Het","Dmis","Paternal_inheritance","MFSD2A","nonsynonymous SNV","MFSD2A:NM_001287808:exon4:c.95C>T:p.T32I,MFSD2A:NM_001136493:exon6:c.602C>T:p.T201I,MFSD2A:NM_001287809:exon6:c.452C>T:p.T151I,MFSD2A:NM_001349821:exon6:c.557C>T:p.T186I,MFSD2A:NM_001349822:exon6:c.563C>T:p.T188I,MFSD2A:NM_001349823:exon6:c.218C>T:p.T73I,MFSD2A:NM_032793:exon6:c.563C>T:p.T188I","major facilitator superfamily domain containing 2A","-0.512253979 (21.2781%)","0.91767122(16.7846%)","1p34.2","rs116276965","0.964:D",{"v":4.07E-6,"d":"4.07E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[9353,"Male","chr20",34797716,34797716,"C","T","Het","Dmis","Paternal_inheritance","EPB41L1","nonsynonymous SNV","EPB41L1:NM_001258331:exon14:c.1753C>T:p.R585W,EPB41L1:NM_177996:exon14:c.1753C>T:p.R585W,EPB41L1:NM_012156:exon15:c.1975C>T:p.R659W,EPB41L1:NM_001258329:exon16:c.1975C>T:p.R659W","erythrocyte membrane protein band 4.1-like 1","-0.851860546 (11.7793%)","0.645386133(26.1509%)","20q11.23","rs140442671","0.851:D",{"v":5.29e-05,"d":"5.29E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
[9374,"Male","chr17",3593796,3593796,"A","G","Het","Dmis","Paternal_inheritance","P2RX5","nonsynonymous SNV","P2RX5:NM_001204520:exon4:c.386T>C:p.L129P,P2RX5:NM_175080:exon4:c.386T>C:p.L129P,P2RX5:NM_001204519:exon5:c.458T>C:p.L153P,P2RX5:NM_002561:exon5:c.458T>C:p.L153P","purinergic receptor P2X 5","0.505084658 (78.392%)","1.83E-05(76.4390%)","17p13.2","-","0.928:D","-","-","-","-"]
[9396,"Male","chr3",114070434,114070434,"C","T","Het","Dmis","Paternal_inheritance","ZBTB20","nonsynonymous SNV","ZBTB20:NM_001164342:exon4:c.491G>A:p.R164Q,ZBTB20:NM_001164346:exon5:c.272G>A:p.R91Q,ZBTB20:NM_001164347:exon5:c.272G>A:p.R91Q,ZBTB20:NM_001164345:exon6:c.272G>A:p.R91Q,ZBTB20:NM_001164344:exon7:c.272G>A:p.R91Q,ZBTB20:NM_001348804:exon9:c.272G>A:p.R91Q,ZBTB20:NM_015642:exon9:c.272G>A:p.R91Q,ZBTB20:NM_001348802:exon10:c.272G>A:p.R91Q,ZBTB20:NM_001348805:exon10:c.272G>A:p.R91Q,ZBTB20:NM_001164343:exon11:c.272G>A:p.R91Q,ZBTB20:NM_001348800:exon11:c.491G>A:p.R164Q,ZBTB20:NM_001348801:exon11:c.272G>A:p.R91Q,ZBTB20:NM_001348803:exon13:c.491G>A:p.R164Q","zinc finger and BTB domain containing 20","-0.92542413 (10.2917%)","0.98255723(11.3141%)","3q13.31","-","0.700:D","-","-","-","-"]
[9405,"Male","chr6",72967959,72967959,"C","T","Het","Dmis","Paternal_inheritance","RIMS1","nonsynonymous SNV","RIMS1:NM_001168407:exon12:c.1321C>T:p.R441C,RIMS1:NM_001168408:exon12:c.1324C>T:p.R442C,RIMS1:NM_001168409:exon12:c.1081C>T:p.R361C,RIMS1:NM_001168410:exon12:c.1279C>T:p.R427C,RIMS1:NM_001350414:exon12:c.1324C>T:p.R442C,RIMS1:NM_001350415:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350416:exon12:c.1324C>T:p.R442C,RIMS1:NM_001350417:exon12:c.1324C>T:p.R442C,RIMS1:NM_001350418:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350419:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350420:exon12:c.1324C>T:p.R442C,RIMS1:NM_001350422:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350423:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350425:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350426:exon12:c.1324C>T:p.R442C,RIMS1:NM_001350427:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350429:exon12:c.1324C>T:p.R442C,RIMS1:NM_001350431:exon12:c.1324C>T:p.R442C,RIMS1:NM_001350432:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350433:exon12:c.1324C>T:p.R442C,RIMS1:NM_001350434:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350435:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350436:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350438:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350439:exon12:c.1324C>T:p.R442C,RIMS1:NM_001350440:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350441:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350442:exon12:c.1324C>T:p.R442C,RIMS1:NM_001350443:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350444:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350445:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350446:exon12:c.1324C>T:p.R442C,RIMS1:NM_001350447:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350448:exon12:c.1324C>T:p.R442C,RIMS1:NM_001350449:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350452:exon12:c.1324C>T:p.R442C,RIMS1:NM_001350454:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350455:exon12:c.1324C>T:p.R442C,RIMS1:NM_001350456:exon12:c.1321C>T:p.R441C,RIMS1:NM_001350457:exon12:c.1324C>T:p.R442C,RIMS1:NM_001350458:exon12:c.1324C>T:p.R442C,RIMS1:NM_001350460:exon12:c.1324C>T:p.R442C,RIMS1:NM_001350461:exon12:c.1078C>T:p.R360C,RIMS1:NM_001350463:exon12:c.1078C>T:p.R360C,RIMS1:NM_001350464:exon12:c.1081C>T:p.R361C,RIMS1:NM_001350465:exon12:c.1081C>T:p.R361C,RIMS1:NM_001350466:exon12:c.1081C>T:p.R361C,RIMS1:NM_001350467:exon12:c.1081C>T:p.R361C,RIMS1:NM_001350468:exon12:c.1078C>T:p.R360C,RIMS1:NM_001350469:exon12:c.1081C>T:p.R361C,RIMS1:NM_001350470:exon12:c.1279C>T:p.R427C,RIMS1:NM_001350472:exon12:c.1276C>T:p.R426C,RIMS1:NM_001350473:exon12:c.1279C>T:p.R427C,RIMS1:NM_001350474:exon12:c.1279C>T:p.R427C,RIMS1:NM_001350421:exon13:c.1252C>T:p.R418C,RIMS1:NM_001350424:exon13:c.1255C>T:p.R419C,RIMS1:NM_001350428:exon13:c.1255C>T:p.R419C,RIMS1:NM_001350430:exon13:c.1252C>T:p.R418C,RIMS1:NM_001350437:exon13:c.1252C>T:p.R418C,RIMS1:NM_001350450:exon13:c.1252C>T:p.R418C,RIMS1:NM_001350459:exon13:c.1255C>T:p.R419C,RIMS1:NM_001350462:exon13:c.1255C>T:p.R419C,RIMS1:NM_001350471:exon13:c.1252C>T:p.R418C,RIMS1:NM_014989:exon17:c.2902C>T:p.R968C","regulating synaptic membrane exocytosis 1","-1.734102772 (2.83052%)","0.029211449(49.7558%)","6q13","rs750178485","0.796:D",{"v":1.63E-5,"d":"1.63E-05"},0,"-","-"]
[9409,"Female","chr21",41719798,41719798,"C","T","Het","Dmis","Paternal_inheritance","DSCAM","nonsynonymous SNV","DSCAM:NM_001271534:exon6:c.1009G>A:p.V337M,DSCAM:NM_001389:exon6:c.1009G>A:p.V337M","Down syndrome cell adhesion molecule","-4.387829485 (0.185228%)","1(0.4225%)","21q22.2","rs779220584","0.857:D",{"v":8.13e-06,"d":"8.13E-06"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
[9445,"Male","chr11",126294792,126294792,"A","G","Het","Dmis","Paternal_inheritance","KIRREL3","nonsynonymous SNV","KIRREL3:NM_001301097:exon16:c.1984T>C:p.S662P,KIRREL3:NM_032531:exon17:c.2020T>C:p.S674P","kin of IRRE like 3 (Drosophila)","-0.701267867 (15.4897%)","0.977505781(12.0933%)","11q24.2","-","0.887:D","-","-","-","-"]
[6081,"Male","chr7",107566762,107566762,"C","T","Het","Dmis","Paternal_inheritance","LAMB1","nonsynonymous SNV","LAMB1:NM_002291:exon32:c.4930G>A:p.A1644T","laminin subunit beta 1","-1.235752647 (6.17041%)","1.79E-06(81.4540%)","7q31.1","-","0.799:D","-","-",{"v":3.23e-05,"d":"3.23E-05"},0.0006]
[6087,"Male","chr6",135751029,135751029,"T","G","Het","Dmis","Paternal_inheritance","AHI1","nonsynonymous SNV","AHI1:NM_001134830:exon16:c.2483A>C:p.D828A,AHI1:NM_001134832:exon17:c.2483A>C:p.D828A,AHI1:NM_017651:exon17:c.2483A>C:p.D828A,AHI1:NM_001134831:exon18:c.2483A>C:p.D828A,AHI1:NM_001350503:exon18:c.2483A>C:p.D828A,AHI1:NM_001350504:exon18:c.2483A>C:p.D828A","Abelson helper integration site 1","0.537890382 (79.7002%)","3.26E-14(96.3621%)","6q23.3","-","0.902:D","-","-","-","-"]
[6250,"Male","chr17",78188465,78188465,"A","C","Het","Dmis","Paternal_inheritance","SGSH","nonsynonymous SNV","SGSH:NM_000199:exon4:c.455T>G:p.I152S","N-sulfoglucosamine sulfohydrolase","1.137890968 (92.834%)","0.00010579(71.6269%)","17q25.3","-","0.927:D",{"v":4.07E-6,"d":"4.07E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[6285,"Male","chr15",25653794,25653794,"-","G","Het","PTV","Paternal_inheritance","UBE3A","frameshift insertion","UBE3A:NM_000462:exon4:c.1_2insC:p.M1Tfs*16","ubiquitin protein ligase E3A","-1.333310276 (5.17481%)","0.999576244(4.9328%)","15q11.2","-","-","-","-","-","-"]
[7855,"Male","chr2",149247495,149247495,"G","A","Het","Dmis","Paternal_inheritance","MBD5","nonsynonymous SNV","MBD5:NM_018328:exon12:c.3595G>A:p.G1199R","methyl-CpG binding domain protein 5","-1.988685078 (2.00857%)","0.999852333(4.0604%)","2q23.1","rs201334086","0.726:D",{"v":6.1e-05,"d":"6.10E-05"},{"v":1E-4,"d":"1.00E-04"},{"v":6.46e-05,"d":"6.46E-05"},0.0006]
[9145,"Male","chr9",713309,713309,"T","G","Het","Dmis","Paternal_inheritance","KANK1","nonsynonymous SNV","KANK1:NM_153186:exon2:c.2069T>G:p.L690R,KANK1:NM_015158:exon3:c.2543T>G:p.L848R,KANK1:NM_001256877:exon4:c.2543T>G:p.L848R,KANK1:NM_001256876:exon7:c.2543T>G:p.L848R","KN motif and ankyrin repeat domains 1","-0.117437522 (42.1104%)","-","9p24.3","-","0.895:D","-","-","-","-"]
[9145,"Male","chr2",167089908,167089908,"A","G","Het","Dmis","Paternal_inheritance","SCN9A","nonsynonymous SNV","SCN9A:NM_002977:exon21:c.3833T>C:p.L1278P","sodium voltage-gated channel alpha subunit 9","0.192209185 (63.3422%)","9.30E-13(95.2483%)","2q24.3","-","1.000:D","-","-","-","-"]
[9148,"Male","chr10",387238,387238,"C","T","Het","Dmis","Paternal_inheritance","DIP2C","nonsynonymous SNV","DIP2C:NM_014974:exon29:c.3485G>A:p.R1162H","disco interacting protein 2 homolog C","-4.462072989 (0.156286%)","0.999999838(1.1578%)","10p15.3","rs761700811","0.701:D",{"v":8.18e-06,"d":"8.18E-06"},0,"-","-"]
[9178,"Male","chr15",66821248,66821248,"G","A","Het","Dmis","Paternal_inheritance","ZWILCH","nonsynonymous SNV","ZWILCH:NM_001287822:exon10:c.686G>A:p.R229Q,ZWILCH:NM_001287823:exon10:c.686G>A:p.R229Q,ZWILCH:NM_001287821:exon11:c.686G>A:p.R229Q,ZWILCH:NM_017975:exon11:c.1028G>A:p.R343Q","zwilch kinetochore protein","0.215328279 (64.5867%)","8.31E-06(78.4746%)","15q22.31","rs200970538","0.917:D",{"v":2.84e-05,"d":"2.84E-05"},0,"-","-"]
[9219,"Male","chr9",131395593,131395593,"C","T","Het","Dmis","Paternal_inheritance","SPTAN1","nonsynonymous SNV","SPTAN1:NM_001195532:exon55:c.7339C>T:p.R2447C,SPTAN1:NM_003127:exon56:c.7399C>T:p.R2467C,SPTAN1:NM_001130438:exon57:c.7414C>T:p.R2472C","spectrin alpha, non-erythrocytic 1","-4.04482939 (0.272054%)","1(0.1756%)","9q34.11","rs759975874","0.837:D",{"v":8.13e-06,"d":"8.13E-06"},0,"-","-"]
[9478,"Male","chr2",122187735,122187735,"C","G","Het","Dmis","Paternal_inheritance","CLASP1","nonsynonymous SNV","CLASP1:NM_001142274:exon20:c.1931G>C:p.R644P,CLASP1:NM_015282:exon20:c.1931G>C:p.R644P,CLASP1:NM_001142273:exon21:c.1955G>C:p.R652P,CLASP1:NM_001207051:exon21:c.1979G>C:p.R660P","cytoplasmic linker associated protein 1","-","0.999999989(0.7572%)","2q14.2","-","0.765:D","-","-","-","-"]
[9493,"Female","chr6",152771836,152771836,"C","A","Het","PTV","Paternal_inheritance","SYNE1","stopgain","SYNE1:NM_033071:exon27:c.3340G>T:p.E1114X,SYNE1:NM_182961:exon27:c.3319G>T:p.E1107X","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.2","-","0.671:T","-","-","-","-"]
[9532,"Female","chr7",82579091,82579091,"G","A","Het","Dmis","Paternal_inheritance","PCLO","nonsynonymous SNV","PCLO:NM_014510:exon6:c.10813C>T:p.R3605W,PCLO:NM_033026:exon6:c.10813C>T:p.R3605W","piccolo presynaptic cytomatrix protein","-2.152098952 (1.61496%)","1(0.2853%)","7q21.11","rs766614715","0.794:D",0,0,"-","-"]
[9538,"Male","chr21",47970588,47970588,"C","T","Het","Dmis","Paternal_inheritance","DIP2A","nonsynonymous SNV","DIP2A:NM_001146116:exon23:c.2758C>T:p.P920S,DIP2A:NM_015151:exon23:c.2770C>T:p.P924S","disco interacting protein 2 homolog A","-1.954202731 (2.11855%)","0.726099074(23.8134%)","21q22.3","-","0.810:D","-","-","-","-"]
[9556,"Female","chr4",56886908,56886909,"TG","-","Het","PTV","Paternal_inheritance","CEP135","frameshift deletion","CEP135:NM_025009:exon24:c.3282_3283del:p.A1095Sfs*7","centrosomal protein 135kDa","-0.199553409 (36.9993%)","4.85E-17(97.7833%)","4q12","-","-","-","-","-","-"]
[9577,"Female","chr3",121976030,121976030,"G","T","Het","Dmis","Paternal_inheritance","CASR","nonsynonymous SNV","CASR:NM_000388:exon3:c.288G>T:p.R96S,CASR:NM_001178065:exon3:c.288G>T:p.R96S","calcium sensing receptor","-1.640642576 (3.19518%)","0.366508674(33.6955%)","3q21.1","-","0.812:D","-","-","-","-"]
[9577,"Female","chr7",146997344,146997344,"C","G","Het","Dmis","Paternal_inheritance","CNTNAP2","nonsynonymous SNV","CNTNAP2:NM_014141:exon9:c.1460C>G:p.P487R","contactin associated protein-like 2","-0.135838044 (40.9065%)","3.83E-05(74.5569%)","7q35","-","0.875:D","-","-","-","-"]
[9580,"Female","chr2",149247495,149247495,"G","A","Het","Dmis","Paternal_inheritance","MBD5","nonsynonymous SNV","MBD5:NM_018328:exon12:c.3595G>A:p.G1199R","methyl-CpG binding domain protein 5","-1.988685078 (2.00857%)","0.999852333(4.0604%)","2q23.1","rs201334086","0.726:D",{"v":6.1e-05,"d":"6.10E-05"},{"v":1E-4,"d":"1.00E-04"},{"v":6.46e-05,"d":"6.46E-05"},0.0006]
[9589,"Male","chr8",100866130,100866130,"C","T","Het","Dmis","Paternal_inheritance","VPS13B","nonsynonymous SNV","VPS13B:NM_017890:exon56:c.10588C>T:p.R3530W,VPS13B:NM_152564:exon56:c.10513C>T:p.R3505W","vacuolar protein sorting 13 homolog B (yeast)","-2.877970131 (0.769854%)","9.81E-27(99.4239%)","8q22.2","rs763017122","0.889:D",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
[9619,"Male","chr2",166243461,166243461,"G","A","Het","Dmis","Paternal_inheritance","SCN2A","nonsynonymous SNV","SCN2A:NM_001040143:exon25:c.4757G>A:p.R1586H,SCN2A:NM_001040142:exon26:c.4757G>A:p.R1586H,SCN2A:NM_021007:exon26:c.4757G>A:p.R1586H","sodium voltage-gated channel alpha subunit 2","-2.505757944 (1.05348%)","0.999999992(0.7243%)","2q24.3","-","0.967:D","-","-","-","-"]
[9625,"Female","chr14",103465995,103465995,"A","C","Het","Dmis","Paternal_inheritance","CDC42BPB","nonsynonymous SNV","CDC42BPB:NM_006035:exon5:c.503T>G:p.F168C","CDC42 binding protein kinase beta","-2.618253358 (0.972447%)","1(0.4609%)","14q32.32","-","0.821:D","-","-","-","-"]
[9631,"Male","chr14",30132955,30132955,"G","A","Het","Dmis","Paternal_inheritance","PRKD1","nonsynonymous SNV","PRKD1:NM_001330069:exon4:c.646C>T:p.R216C,PRKD1:NM_001348390:exon4:c.358C>T:p.R120C,PRKD1:NM_002742:exon4:c.646C>T:p.R216C","protein kinase D1","-0.417601543 (25.3936%)","2.13E-05(76.0219%)","14q12","rs145651161","0.837:D",{"v":8.12e-06,"d":"8.12E-06"},0,"-","-"]
[9634,"Male","chr7",99700386,99700386,"T","A","Het","Dmis","Paternal_inheritance","AP4M1","nonsynonymous SNV","AP4M1:NM_004722:exon3:c.236T>A:p.L79H","adaptor related protein complex 4 mu 1 subunit","-0.721574107 (14.9166%)","2.36E-11(93.7229%)","7q22.1","-","0.852:D","-","-","-","-"]
[9655,"Male","chr12",109945528,109945528,"G","A","Het","Dmis","Paternal_inheritance","UBE3B","nonsynonymous SNV","UBE3B:NM_130466:exon15:c.1610G>A:p.R537Q,UBE3B:NM_183415:exon15:c.1610G>A:p.R537Q","ubiquitin protein ligase E3B","-2.422919179 (1.16925%)","0.009387706(55.1605%)","12q24.11","rs748814658","0.794:D",{"v":6.54e-05,"d":"6.54E-05"},{"v":5.82e-05,"d":"5.82E-05"},{"v":9.68e-05,"d":"9.68E-05"},0]
[9655,"Male","chr6",88299675,88299675,"T","C","Het","Dmis","Paternal_inheritance","RARS2","nonsynonymous SNV","RARS2:NM_001350505:exon1:c.1A>G:p.M1V,RARS2:NM_020320:exon1:c.1A>G:p.M1V","arginyl-tRNA synthetase 2, mitochondrial","0.042258271 (53.4209%)","3.49E-06(80.1920%)","6q15","rs774923951","0.872:D",1E-4,{"v":1E-4,"d":"1.00E-04"},{"v":9.69e-05,"d":"9.69E-05"},0]
[9659,"Male","chr4",25146631,25146631,"T","C","Het","Dmis","Paternal_inheritance","SEPSECS","nonsynonymous SNV","SEPSECS:NM_016955:exon7:c.929A>G:p.Y310C","Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase","-0.396350797 (26.5571%)","2.65E-06(80.6694%)","4p15.2","-","0.951:D","-","-","-","-"]
[9663,"Male","chr2",50847234,50847234,"C","A","Het","Dmis","Paternal_inheritance","NRXN1","nonsynonymous SNV","NRXN1:NM_001330087:exon4:c.1162G>T:p.V388F,NRXN1:NM_001330096:exon4:c.1162G>T:p.V388F,NRXN1:NM_001330083:exon5:c.1207G>T:p.V403F,NRXN1:NM_001330084:exon5:c.1207G>T:p.V403F,NRXN1:NM_001330088:exon5:c.1192G>T:p.V398F,NRXN1:NM_001330077:exon7:c.1222G>T:p.V408F,NRXN1:NM_001330082:exon7:c.1222G>T:p.V408F,NRXN1:NM_001330094:exon7:c.1234G>T:p.V412F,NRXN1:NM_001330095:exon7:c.1222G>T:p.V408F,NRXN1:NM_001330078:exon8:c.1246G>T:p.V416F,NRXN1:NM_001330085:exon8:c.1246G>T:p.V416F,NRXN1:NM_001330086:exon8:c.1246G>T:p.V416F,NRXN1:NM_001330093:exon8:c.1243G>T:p.V415F,NRXN1:NM_004801:exon8:c.1246G>T:p.V416F,NRXN1:NM_001135659:exon9:c.1366G>T:p.V456F","neurexin 1","-1.883401977 (2.29799%)","0.999948738(3.2209%)","2p16.3","-","0.941:D","-","-","-","-"]
[9809,"Male","chr2",149247495,149247495,"G","A","Het","Dmis","Paternal_inheritance","MBD5","nonsynonymous SNV","MBD5:NM_018328:exon12:c.3595G>A:p.G1199R","methyl-CpG binding domain protein 5","-1.988685078 (2.00857%)","0.999852333(4.0604%)","2q23.1","rs201334086","0.726:D",{"v":6.1e-05,"d":"6.10E-05"},{"v":1E-4,"d":"1.00E-04"},{"v":6.46e-05,"d":"6.46E-05"},0.0006]
[9919,"Female","chr11",128851830,128851830,"T","G","Het","Dmis","Paternal_inheritance","ARHGAP32","nonsynonymous SNV;potential splicing","ARHGAP32:NM_014715:exon6:c.439A>C:p.T147P,ARHGAP32:NM_001142685:exon15:c.1486A>C:p.T496P","-","-","0.98708852(10.5350%)","11q24.3","-","0.946:D","-","-","-","-"]
[9971,"Male","chr10",79743701,79743701,"G","A","Het","Dmis","Paternal_inheritance","POLR3A","nonsynonymous SNV","POLR3A:NM_007055:exon26:c.3406C>T:p.R1136W","polymerase (RNA) III subunit A","-2.256686659 (1.40079%)","7.39E-14(96.1756%)","10q22.3","rs766029466","0.846:D",{"v":2.04e-05,"d":"2.04E-05"},{"v":5.81e-05,"d":"5.81E-05"},"-","-"]
[9740,"Male","chr2",51255096,51255096,"C","A","Het","Dmis","Paternal_inheritance","NRXN1","nonsynonymous SNV","NRXN1:NM_001135659:exon2:c.316G>T:p.D106Y,NRXN1:NM_001330077:exon2:c.316G>T:p.D106Y,NRXN1:NM_001330078:exon2:c.316G>T:p.D106Y,NRXN1:NM_001330079:exon2:c.316G>T:p.D106Y,NRXN1:NM_001330081:exon2:c.316G>T:p.D106Y,NRXN1:NM_001330082:exon2:c.316G>T:p.D106Y,NRXN1:NM_001330083:exon2:c.316G>T:p.D106Y,NRXN1:NM_001330084:exon2:c.316G>T:p.D106Y,NRXN1:NM_001330085:exon2:c.316G>T:p.D106Y,NRXN1:NM_001330086:exon2:c.316G>T:p.D106Y,NRXN1:NM_001330087:exon2:c.316G>T:p.D106Y,NRXN1:NM_001330088:exon2:c.316G>T:p.D106Y,NRXN1:NM_001330089:exon2:c.316G>T:p.D106Y,NRXN1:NM_001330090:exon2:c.316G>T:p.D106Y,NRXN1:NM_001330093:exon2:c.316G>T:p.D106Y,NRXN1:NM_001330094:exon2:c.316G>T:p.D106Y,NRXN1:NM_001330095:exon2:c.316G>T:p.D106Y,NRXN1:NM_001330096:exon2:c.316G>T:p.D106Y,NRXN1:NM_004801:exon2:c.316G>T:p.D106Y","neurexin 1","-1.883401977 (2.29799%)","0.999948738(3.2209%)","2p16.3","rs200576486","0.806:D",{"v":4.34E-6,"d":"4.34E-06"},0,"-","-"]
[9758,"Male","chr2",74072364,74072364,"A","C","Het","Dmis","Paternal_inheritance","STAMBP","nonsynonymous SNV","STAMBP:NM_201647:exon4:c.350A>C:p.E117A,STAMBP:NM_213622:exon4:c.350A>C:p.E117A,STAMBP:NM_006463:exon5:c.350A>C:p.E117A","STAM binding protein","0.053665262 (54.1561%)","0.001430273(63.1770%)","2p13.1","rs780086128","0.765:D",{"v":4.07E-6,"d":"4.07E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[9937,"Male","chr17",60140547,60140547,"A","T","Het","Dmis","Paternal_inheritance","MED13","nonsynonymous SNV","MED13:NM_005121:exon2:c.182T>A:p.L61H","mediator complex subunit 13","-2.759416599 (0.85668%)","1(0.3512%)","17q23.2","-","0.992:D","-","-","-","-"]
[9937,"Male","chr17",76521140,76521140,"C","A","Het","Dmis","Paternal_inheritance","DNAH17","nonsynonymous SNV","DNAH17:NM_173628:exon25:c.3815G>T:p.C1272F","dynein axonemal heavy chain 17","-","-","17q25.3","-","0.803:D","-","-","-","-"]
[10058,"Female","chrX",153690547,153690547,"C","A","Het","Dmis","Paternal_inheritance","PLXNA3","nonsynonymous SNV","PLXNA3:NM_017514:exon4:c.1214C>A:p.P405H","plexin A3","-2.049448229 (1.83492%)","0.983112793(11.1989%)","Xq28","-","0.865:D",{"v":5.9e-06,"d":"5.90E-06"},{"v":8.72e-05,"d":"8.72E-05"},"-","-"]
[10064,"Male","chr7",5254184,5254184,"G","A","Het","Dmis","Paternal_inheritance","WIPI2","nonsynonymous SNV","WIPI2:NM_001033520:exon1:c.53G>A:p.C18Y,WIPI2:NM_001033519:exon3:c.176G>A:p.C59Y,WIPI2:NM_016003:exon3:c.176G>A:p.C59Y,WIPI2:NM_001033518:exon4:c.230G>A:p.C77Y,WIPI2:NM_015610:exon4:c.230G>A:p.C77Y","WD repeat domain, phosphoinositide interacting 2","-0.199225135 (37.034%)","0.093680612(43.4952%)","7p22.1","-","0.933:D","-","-","-","-"]
[10089,"Female","chr3",123166269,123166269,"A","G","Het","Dmis","Paternal_inheritance","ADCY5","nonsynonymous SNV","ADCY5:NM_183357:exon1:c.1124T>C:p.L375P","adenylate cyclase 5","-2.187243441 (1.5455%)","0.989940592(9.9150%)","3q21.1","-","0.949:D","-","-","-","-"]
[10089,"Female","chr10",79773529,79773529,"C","T","Het","Dmis","Paternal_inheritance","POLR3A","nonsynonymous SNV","POLR3A:NM_007055:exon11:c.1451G>A:p.R484Q","polymerase (RNA) III subunit A","-2.256686659 (1.40079%)","7.39E-14(96.1756%)","10q22.3","-","0.875:D",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
[10089,"Female","chr1",8415551,8415551,"A","G","Het","Dmis","Paternal_inheritance","RERE","nonsynonymous SNV","RERE:NM_001042682:exon12:c.2933T>C:p.M978T,RERE:NM_001042681:exon22:c.4595T>C:p.M1532T,RERE:NM_012102:exon23:c.4595T>C:p.M1532T","arginine-glutamic acid dipeptide (RE) repeats","-2.692017503 (0.897198%)","0.999995655(2.1509%)","1p36.23","-","0.863:D",{"v":4.19e-06,"d":"4.19E-06"},0,"-","-"]
[10104,"Female","chr2",205986396,205986396,"T","G","Het","PTV","Paternal_inheritance","PARD3B","stopgain","PARD3B:NM_001302769:exon8:c.888T>G:p.Y296X,PARD3B:NM_057177:exon8:c.888T>G:p.Y296X,PARD3B:NM_152526:exon8:c.888T>G:p.Y296X,PARD3B:NM_205863:exon8:c.888T>G:p.Y296X","par-3 family cell polarity regulator beta","0.394809114 (73.7902%)","8.65E-08(86.2387%)","2q33.3","-","0.537:T","-","-","-","-"]
[10104,"Female","chrX",108926040,108926040,"C","T","Het","Dmis","Paternal_inheritance","ACSL4","nonsynonymous SNV","ACSL4:NM_001318509:exon4:c.437G>A:p.G146E,ACSL4:NM_001318510:exon4:c.314G>A:p.G105E,ACSL4:NM_004458:exon4:c.314G>A:p.G105E,ACSL4:NM_022977:exon5:c.437G>A:p.G146E","acyl-CoA synthetase long-chain family member 4","-0.92526593 (10.2975%)","0.99576765(8.0384%)","Xq23","-","0.932:D","-","-","-","-"]
[10134,"Female","chr17",60111243,60111243,"T","C","Het","Dmis","Paternal_inheritance","MED13","nonsynonymous SNV","MED13:NM_005121:exon5:c.719A>G:p.Y240C","mediator complex subunit 13","-2.759416599 (0.85668%)","1(0.3512%)","17q23.2","rs778653483","0.987:D",{"v":2.84e-05,"d":"2.84E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[10149,"Male","chr22",50678712,50678712,"C","-","Het","PTV","Paternal_inheritance","TUBGCP6","stopgain","TUBGCP6:NM_020461:exon2:c.826delG:p.V276fs*0","tubulin gamma complex associated protein 6","0.353636398 (71.8338%)","5.09E-19(98.3978%)","22q13.33","-","-","-","-","-","-"]
[10352,"Male","chr11",128851408,128851408,"C","T","Het","Dmis","Paternal_inheritance","ARHGAP32","nonsynonymous SNV","ARHGAP32:NM_014715:exon7:c.594G>A:p.M198I,ARHGAP32:NM_001142685:exon16:c.1641G>A:p.M547I","Rho GTPase activating protein 32","-1.588685966 (3.44987%)","0.98708852(10.5350%)","11q24.3","rs979454483","0.754:D","-","-","-","-"]
[10290,"Male","chr11",63276323,63276323,"T","C","Het","Dmis","Paternal_inheritance","LGALS12","nonsynonymous SNV","LGALS12:NM_001142537:exon2:c.115T>C:p.F39L,LGALS12:NM_001142538:exon2:c.115T>C:p.F39L,LGALS12:NM_001142535:exon3:c.301T>C:p.F101L,LGALS12:NM_001142536:exon3:c.298T>C:p.F100L,LGALS12:NM_033101:exon3:c.298T>C:p.F100L","lectin, galactoside-binding, soluble, 12","0.486343588 (77.5816%)","2.69E-09(90.2058%)","11q12.3","rs755027759","0.734:D",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
[10411,"Male","chr22",42606169,42606169,"G","A","Het","Dmis","Paternal_inheritance","TCF20","nonsynonymous SNV","TCF20:NM_181492:exon1:c.5143C>T:p.R1715W,TCF20:NM_005650:exon2:c.5143C>T:p.R1715W","transcription factor 20 (AR1)","-3.824233709 (0.341514%)","0.999977934(2.8368%)","22q13.2","rs370476466","0.867:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
[10344,"Male","chr14",97322478,97322478,"C","T","Het","Dmis","Paternal_inheritance","VRK1","nonsynonymous SNV","VRK1:NM_003384:exon9:c.721C>T:p.R241C","vaccinia related kinase 1","-0.324809181 (30.0359%)","0.042898405(47.8189%)","14q32.2","rs141703130","0.718:D",{"v":8.13e-06,"d":"8.13E-06"},0,"-","-"]
[10296,"Male","chr7",107569631,107569631,"T","C","Het","Dmis","Paternal_inheritance","LAMB1","nonsynonymous SNV","LAMB1:NM_002291:exon31:c.4765A>G:p.K1589E","laminin subunit beta 1","-1.235752647 (6.17041%)","1.79E-06(81.4540%)","7q31.1","-","0.753:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
[10275,"Male","chr5",14387920,14387920,"T","A","Het","Dmis","Paternal_inheritance","TRIO","nonsynonymous SNV","TRIO:NM_007118:exon23:c.3845T>A:p.L1282H","trio Rho guanine nucleotide exchange factor","-4.532800748 (0.150498%)","1(0.1536%)","5p15.2","-","0.835:D","-","-","-","-"]
[10284,"Male","chr11",118376987,118376987,"G","C","Het","Dmis","Paternal_inheritance","KMT2A","nonsynonymous SNV","KMT2A:NM_001197104:exon27:c.10380G>C:p.Q3460H,KMT2A:NM_005933:exon27:c.10371G>C:p.Q3457H","lysine methyltransferase 2A","-4.13791644 (0.231535%)","1(0.0055%)","11q23.3","rs200260418","0.813:D",{"v":8.12e-06,"d":"8.12E-06"},1E-4,"-","-"]
[10284,"Male","chr15",85196024,85196024,"A","G","Het","Dmis","Paternal_inheritance","WDR73","nonsynonymous SNV","WDR73:NM_032856:exon3:c.119T>C:p.V40A","WD repeat domain 73","0.083031743 (56.2399%)","7.90E-06(78.6063%)","15q25.2","-","0.776:D",{"v":7.36e-06,"d":"7.36E-06"},0,"-","-"]
["A7","Male","chr5",228402,228402,"G","A","Het","Dmis","Paternal_inheritance","SDHA","nonsynonymous SNV","SDHA:NM_001294332:exon5:c.580G>A:p.G194R,SDHA:NM_001330758:exon6:c.724G>A:p.G242R,SDHA:NM_004168:exon6:c.724G>A:p.G242R","succinate dehydrogenase complex flavoprotein subunit A","-0.651593635 (16.821%)","9.39E-06(78.1674%)","5p15.33","rs764534044","0.953:D",{"v":8.13e-06,"d":"8.13E-06"},0,"-","-"]
[10203,"Female","chr2",127944880,127944880,"C","-","Het","PTV","Paternal_inheritance","CYP27C1","frameshift deletion","CYP27C1:NM_001001665:exon8:c.1086delG:p.I364Sfs*13","cytochrome P450 family 27 subfamily C member 1","-0.886995467 (11.0558%)","0.000184567(70.0137%)","2q14.3","rs767024106","-",{"v":8.13e-06,"d":"8.13E-06"},1E-4,"-","-"]
["A40","Male","chr5",14461295,14461295,"G","A","Het","Dmis","Paternal_inheritance","TRIO","nonsynonymous SNV","TRIO:NM_007118:exon35:c.5371G>A:p.G1791R","trio Rho guanine nucleotide exchange factor","-4.532800748 (0.150498%)","1(0.1536%)","5p15.2","-","0.840:D","-","-","-","-"]
["A25","Male","chr15",28357045,28357045,"G","C","Het","Dmis","Paternal_inheritance","HERC2","nonsynonymous SNV","HERC2:NM_004667:exon93:c.14369C>G:p.S4790C","HECT and RLD domain containing E3 ubiquitin protein ligase 2","-4.457155603 (0.162075%)","1(0.0055%)","15q13.1","-","0.941:D","-","-","-","-"]
["A31","Male","chr20",34797716,34797716,"C","T","Het","Dmis","Paternal_inheritance","EPB41L1","nonsynonymous SNV","EPB41L1:NM_001258331:exon14:c.1753C>T:p.R585W,EPB41L1:NM_177996:exon14:c.1753C>T:p.R585W,EPB41L1:NM_012156:exon15:c.1975C>T:p.R659W,EPB41L1:NM_001258329:exon16:c.1975C>T:p.R659W","erythrocyte membrane protein band 4.1-like 1","-0.851860546 (11.7793%)","0.645386133(26.1509%)","20q11.23","rs140442671","0.851:D",{"v":5.29e-05,"d":"5.29E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A4","Female","chr11",93529579,93529579,"T","C","Het","Dmis","Paternal_inheritance","MED17","nonsynonymous SNV","MED17:NM_004268:exon7:c.1016T>C:p.L339S","mediator complex subunit 17","-1.094761048 (7.79116%)","3.89E-06(80.0055%)","11q21","-","0.721:D","-","-","-","-"]
["A4","Female","chr4",85687406,85687406,"G","A","Het","PTV","Paternal_inheritance","WDFY3","stopgain;potential splicing","WDFY3:NM_014991:exon31:c.4969C>T:p.Q1657X","-","-","1(0.0055%)","4q21.23","-","0.844:D","-","-","-","-"]
["A82","Male","chr9",36966591,36966591,"G","C","Het","Dmis","Paternal_inheritance","PAX5","nonsynonymous SNV","PAX5:NM_001280551:exon5:c.411C>G:p.H137Q,PAX5:NM_001280553:exon5:c.606C>G:p.H202Q,PAX5:NM_001280554:exon5:c.606C>G:p.H202Q,PAX5:NM_001280555:exon5:c.537C>G:p.H179Q,PAX5:NM_001280556:exon5:c.411C>G:p.H137Q,PAX5:NM_001280547:exon6:c.735C>G:p.H245Q,PAX5:NM_001280548:exon6:c.735C>G:p.H245Q,PAX5:NM_001280549:exon6:c.735C>G:p.H245Q,PAX5:NM_001280550:exon6:c.735C>G:p.H245Q,PAX5:NM_001280552:exon6:c.735C>G:p.H245Q,PAX5:NM_016734:exon6:c.735C>G:p.H245Q","paired box 5","0.15004375 (60.8301%)","0.984243989(11.0233%)","9p13.2","-","0.917:D","-","-","-","-"]
["A82","Male","chr22",41574829,41574829,"A","G","Het","Dmis","Paternal_inheritance","EP300","nonsynonymous SNV","EP300:NM_001429:exon31:c.7114A>G:p.M2372V","E1A binding protein p300","-4.105042369 (0.237323%)","1(0.2085%)","22q13.2","rs768061933","0.825:D",{"v":5.28e-05,"d":"5.28E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A151","Male","chr3",1415675,1415675,"T","G","Het","PTV","Paternal_inheritance","CNTN6","stopgain","CNTN6:NM_001349357:exon14:c.1701T>G:p.Y567X,CNTN6:NM_001349358:exon14:c.1458T>G:p.Y486X,CNTN6:NM_001349359:exon14:c.891T>G:p.Y297X,CNTN6:NM_001349360:exon14:c.891T>G:p.Y297X,CNTN6:NM_001289081:exon15:c.1797T>G:p.Y599X,CNTN6:NM_001349356:exon15:c.1905T>G:p.Y635X,CNTN6:NM_001349362:exon15:c.891T>G:p.Y297X,CNTN6:NM_001289080:exon16:c.2013T>G:p.Y671X,CNTN6:NM_014461:exon16:c.2013T>G:p.Y671X,CNTN6:NM_001349352:exon17:c.2013T>G:p.Y671X,CNTN6:NM_001349353:exon17:c.2013T>G:p.Y671X,CNTN6:NM_001349354:exon17:c.2013T>G:p.Y671X,CNTN6:NM_001349355:exon17:c.2013T>G:p.Y671X,CNTN6:NM_001349361:exon17:c.891T>G:p.Y297X,CNTN6:NM_001349350:exon18:c.2013T>G:p.Y671X,CNTN6:NM_001349351:exon18:c.2013T>G:p.Y671X","contactin 6","-0.826604557 (12.3003%)","3.59E-22(98.9904%)","3p26.3","-","0.412:T","-","-","-","-"]
["A154","Male","chr22",50521562,50521562,"C","T","Het","Dmis","Paternal_inheritance","MLC1","nonsynonymous SNV","MLC1:NM_015166:exon3:c.218G>A:p.G73E,MLC1:NM_139202:exon3:c.218G>A:p.G73E","megalencephalic leukoencephalopathy with subcortical cysts 1","0.432139821 (75.4052%)","5.03E-05(73.8217%)","22q13.33","-","0.987:D","-","-","-","-"]
["A61","Male","chr12",116457187,116457187,"A","G","Het","Dmis","Paternal_inheritance","MED13L","nonsynonymous SNV","MED13L:NM_015335:exon7:c.851T>C:p.F284S","mediator complex subunit 13 like","-1.606592776 (3.33989%)","0.999999999(0.5706%)","12q24.21","-","0.933:D","-","-","-","-"]
["A97","Male","chr1",202722097,202722097,"G","A","Het","Dmis","Paternal_inheritance","KDM5B","nonsynonymous SNV","KDM5B:NM_001347591:exon11:c.1502C>T:p.P501L,KDM5B:NM_006618:exon12:c.1637C>T:p.P546L,KDM5B:NM_001314042:exon13:c.1745C>T:p.P582L","lysine demethylase 5B","-2.302644968 (1.34869%)","5.09E-05(73.7723%)","1q32.1","-","0.911:D",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
["A115","Male","chr16",31123255,31123255,"C","T","Het","Dmis","Paternal_inheritance","BCKDK","nonsynonymous SNV","BCKDK:NM_001271926:exon10:c.911C>T:p.T304I,BCKDK:NM_001122957:exon11:c.1001C>T:p.T334I,BCKDK:NM_005881:exon11:c.1001C>T:p.T334I","branched chain ketoacid dehydrogenase kinase","-0.780147738 (13.3538%)","0.005804358(57.3663%)","16p11.2","-","0.815:D","-","-","-","-"]
[10079,"Female","chr18",67871480,67871487,"TGTTGGAC","-","Het","PTV","Paternal_inheritance","RTTN","frameshift deletion","RTTN:NM_173630:exon3:c.232_239del:p.V78Ffs*2","rotatin","-1.326317594 (5.23269%)","2.40E-13(95.7586%)","18q22.2","rs762596611","-",{"v":4.11e-06,"d":"4.11E-06"},{"v":5.85e-05,"d":"5.85E-05"},"-","-"]
[10335,"Male","chr5",1403195,1403195,"C","T","Het","Dmis","Paternal_inheritance","SLC6A3","nonsynonymous SNV","SLC6A3:NM_001044:exon13:c.1609G>A:p.V537M","solute carrier family 6 member 3","-0.860754331 (11.5883%)","0.997036902(7.4678%)","5p15.33","rs770121366","0.789:D",{"v":8.18e-06,"d":"8.18E-06"},0,"-","-"]
["A617","Male","chr2",210685047,210685047,"G","A","Het","Dmis","Paternal_inheritance","UNC80","nonsynonymous SNV","UNC80:NM_032504:exon13:c.1975G>A:p.A659T,UNC80:NM_182587:exon13:c.1975G>A:p.A659T","unc-80 homolog, NALCN activator","-","0.139839111(41.0590%)","2q34","-","0.754:D","-","-","-","-"]
["A596","Female","chr12",58023721,58023721,"T","-","Het","PTV","Paternal_inheritance","B4GALNT1","frameshift deletion","B4GALNT1:NM_001276469:exon6:c.926delA:p.E309Gfs*41","beta-1,4-N-acetyl-galactosaminyltransferase 1","-0.513035719 (21.2376%)","0.056073773(46.3045%)","12q13.3","-","-","-","-","-","-"]
["A596","Female","chr17",61780973,61780973,"C","A","Het","Dmis","Paternal_inheritance","STRADA","nonsynonymous SNV","STRADA:NM_001003786:exon11:c.1171G>T:p.D391Y,STRADA:NM_001003788:exon12:c.1108G>T:p.D370Y,STRADA:NM_001003787:exon13:c.1282G>T:p.D428Y","STE20-related kinase adaptor alpha","-0.037400113 (47.6789%)","0.002015391(61.8162%)","17q23.3","-","0.779:D","-","-","-","-"]
["A903","Male","chr1",100573418,100573418,"T","A","Het","Dmis","Paternal_inheritance","SASS6","nonsynonymous SNV","SASS6:NM_001304829:exon8:c.503A>T:p.D168V,SASS6:NM_194292:exon9:c.1004A>T:p.D335V","SAS-6 centriolar assembly protein","-0.558960442 (19.6921%)","5.00E-05(73.8381%)","1p21.2","-","0.833:D","-","-","-","-"]
["A899","Male","chr2",210858801,210858801,"G","T","Het","Dmis","Paternal_inheritance","UNC80","nonsynonymous SNV","UNC80:NM_182587:exon62:c.9251G>T:p.R3084L,UNC80:NM_032504:exon63:c.9323G>T:p.R3108L","unc-80 homolog, NALCN activator","-","0.139839111(41.0590%)","2q34","rs191830048","0.778:D","-","-","-","-"]
["A896","Male","chr7",100285027,100285027,"G","A","Het","Dmis","Paternal_inheritance","GIGYF1","nonsynonymous SNV","GIGYF1:NM_022574:exon5:c.376C>T:p.R126C","GRB10 interacting GYF protein 1","-2.623333318 (0.960871%)","0.978704812(11.9451%)","7q22.1","-","0.906:D",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
["A880","Male","chr1",27088711,27088711,"C","T","Het","Dmis","Paternal_inheritance","ARID1A","nonsynonymous SNV","ARID1A:NM_006015:exon7:c.2320C>T:p.R774C,ARID1A:NM_139135:exon7:c.2320C>T:p.R774C","AT-rich interaction domain 1A","-3.169718989 (0.590414%)","0.999999997(0.6584%)","1p36.11","-","0.762:D","-","-","-","-"]
[7660,"Male","chr17",29654794,29654794,"A","T","Het","Dmis","Paternal_inheritance","NF1","nonsynonymous SNV","NF1:NM_000267:exon37:c.5483A>T:p.D1828V,NF1:NM_001042492:exon38:c.5546A>T:p.D1849V","neurofibromin 1","-4.245138737 (0.202593%)","0.999999846(1.1523%)","17q11.2","-","0.965:D","-","-","-","-"]
["A1405","Female","chr17",18138481,18138481,"C","A","Het","Dmis","Paternal_inheritance","LLGL1","nonsynonymous SNV","LLGL1:NM_004140:exon10:c.1139C>A:p.P380Q","lethal giant larvae homolog 1, scribble cell polarity complex component","-1.695070442 (2.9405%)","0.977463207(12.0988%)","17p11.2","-","0.880:D","-","-","-","-"]
[10152,"Female","chr17",76490742,76490742,"A","C","Het","Dmis","Paternal_inheritance","DNAH17","nonsynonymous SNV","DNAH17:NM_173628:exon40:c.6203T>G:p.M2068R","dynein axonemal heavy chain 17","-","-","17q25.3","-","0.757:D","-","-","-","-"]
[10152,"Female","chr9",134398413,134398413,"G","A","Het","Dmis","Paternal_inheritance","POMT1","nonsynonymous SNV","POMT1:NM_001136114:exon18:c.1747G>A:p.G583R,POMT1:NM_001077366:exon19:c.1936G>A:p.G646R,POMT1:NM_001077365:exon20:c.2098G>A:p.G700R,POMT1:NM_001136113:exon20:c.2098G>A:p.G700R,POMT1:NM_007171:exon20:c.2164G>A:p.G722R","protein O-mannosyltransferase 1","-0.459778865 (23.4719%)","5.00E-10(91.7092%)","9q34.13","-","0.997:D",{"v":8.2e-06,"d":"8.20E-06"},0,"-","-"]
["A1385","Female","chr18",42643305,42643305,"G","T","Het","Dmis","Paternal_inheritance","SETBP1","nonsynonymous SNV","SETBP1:NM_015559:exon6:c.4433G>T:p.C1478F","SET binding protein 1","-0.959874055 (9.70711%)","0.999002929(5.8491%)","18q12.3","-","0.849:D","-","-","-","-"]
["A1379","Male","chr8",18430097,18430097,"C","T","Het","Dmis","Paternal_inheritance","PSD3","nonsynonymous SNV","PSD3:NM_206909:exon11:c.1123G>A:p.G375S,PSD3:NM_015310:exon14:c.2725G>A:p.G909S","pleckstrin and Sec7 domain containing 3","0.085515914 (56.3962%)","0.851705649(19.7970%)","8p22","rs770861180","0.844:D",{"v":1.63E-5,"d":"1.63E-05"},{"v":0,"d":"0.00E+00"},{"v":6.46e-05,"d":"6.46E-05"},0]
["A1299","Female","chr11",118362611,118362611,"C","T","Het","Dmis","Paternal_inheritance","KMT2A","nonsynonymous SNV","KMT2A:NM_001197104:exon15:c.4972C>T:p.R1658W,KMT2A:NM_005933:exon15:c.4963C>T:p.R1655W","lysine methyltransferase 2A","-4.13791644 (0.231535%)","1(0.0055%)","11q23.3","rs373435126","0.928:D",{"v":2.03e-05,"d":"2.03E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["A1241","Female","chr2",166868777,166868777,"A","G","Het","Dmis","Paternal_inheritance","SCN1A","nonsynonymous SNV","SCN1A:NM_001165963:exon19:c.3721T>C:p.Y1241H,SCN1A:NM_001165964:exon19:c.3637T>C:p.Y1213H,SCN1A:NM_006920:exon19:c.3688T>C:p.Y1230H,SCN1A:NM_001202435:exon21:c.3721T>C:p.Y1241H","sodium voltage-gated channel alpha subunit 1","-1.851630779 (2.39639%)","1(0.4774%)","2q24.3","rs922514173","0.879:D","-","-","-","-"]
["A1091","Male","chr20",49509093,49509093,"C","T","Het","Dmis","Paternal_inheritance","ADNP","nonsynonymous SNV","ADNP:NM_001282532:exon4:c.2158G>A:p.E720K,ADNP:NM_181442:exon4:c.2158G>A:p.E720K,ADNP:NM_001347511:exon5:c.2158G>A:p.E720K,ADNP:NM_015339:exon5:c.2158G>A:p.E720K,ADNP:NM_001282531:exon6:c.2158G>A:p.E720K","activity-dependent neuroprotector homeobox","-1.542847722 (3.71614%)","0.9989041(5.9753%)","20q13.13","rs958769202","0.744:D","-","-","-","-"]
["A1103","Male","chr7",99702967,99702967,"G","A","Het","Dmis","Paternal_inheritance","AP4M1","nonsynonymous SNV","AP4M1:NM_004722:exon10:c.832G>A:p.E278K","adaptor related protein complex 4 mu 1 subunit","-0.721574107 (14.9166%)","2.36E-11(93.7229%)","7q22.1","rs748967782","0.832:D",{"v":8.12e-06,"d":"8.12E-06"},0,"-","-"]
["A1103","Male","chr14",30135304,30135304,"G","T","Het","Dmis","Paternal_inheritance","PRKD1","nonsynonymous SNV","PRKD1:NM_001330069:exon3:c.514C>A:p.R172S,PRKD1:NM_001348390:exon3:c.226C>A:p.R76S,PRKD1:NM_002742:exon3:c.514C>A:p.R172S","protein kinase D1","-0.417601543 (25.3936%)","2.13E-05(76.0219%)","14q12","-","0.970:D","-","-","-","-"]
["A1075","Male","chr20",44592138,44592138,"G","A","Het","Dmis","Paternal_inheritance","ZNF335","nonsynonymous SNV","ZNF335:NM_022095:exon9:c.1507C>T:p.R503C","zinc finger protein 335","-1.845984248 (2.42533%)","0.006503002(56.8340%)","20q13.12","rs778288759","0.750:D",{"v":8.15e-06,"d":"8.15E-06"},0,"-","-"]
["A1075","Male","chr15",28366563,28366563,"G","A","Het","Dmis","Paternal_inheritance","HERC2","nonsynonymous SNV","HERC2:NM_004667:exon86:c.13201C>T:p.R4401W","HECT and RLD domain containing E3 ubiquitin protein ligase 2","-4.457155603 (0.162075%)","1(0.0055%)","15q13.1","rs762578420","0.834:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
["A1088","Male","chr21",47978274,47978274,"G","A","Het","Dmis","Paternal_inheritance","DIP2A","nonsynonymous SNV","DIP2A:NM_001146116:exon32:c.3925G>A:p.G1309R,DIP2A:NM_015151:exon32:c.3937G>A:p.G1313R","disco interacting protein 2 homolog A","-1.954202731 (2.11855%)","0.726099074(23.8134%)","21q22.3","rs773493399","0.982:D","-","-","-","-"]
["A1828","Female","chr10",114918456,114918456,"T","C","Het","Dmis","Paternal_inheritance","TCF7L2","nonsynonymous SNV","TCF7L2:NM_001349870:exon9:c.920T>C:p.L307P,TCF7L2:NM_001349871:exon9:c.800T>C:p.L267P,TCF7L2:NM_001146284:exon12:c.1268T>C:p.L423P,TCF7L2:NM_001198525:exon12:c.1295T>C:p.L432P,TCF7L2:NM_001198527:exon12:c.1268T>C:p.L423P,TCF7L2:NM_001198528:exon12:c.1280T>C:p.L427P,TCF7L2:NM_001198529:exon12:c.1280T>C:p.L427P,TCF7L2:NM_030756:exon12:c.1280T>C:p.L427P","transcription factor 7 like 2","-0.890122996 (11.0269%)","0.989605029(9.9753%)","10q25.3","-","0.892:D","-","-","-","-"]
["A1882","Female","chr1",8418427,8418427,"T","C","Het","Dmis","Paternal_inheritance","RERE","nonsynonymous SNV","RERE:NM_001042682:exon10:c.2506A>G:p.M836V,RERE:NM_001042681:exon20:c.4168A>G:p.M1390V,RERE:NM_012102:exon21:c.4168A>G:p.M1390V","arginine-glutamic acid dipeptide (RE) repeats","-2.692017503 (0.897198%)","0.999995655(2.1509%)","1p36.23","-","0.801:D","-","-","-","-"]
["A1846","Male","chr16",89598415,89598415,"C","T","Het","Dmis","Paternal_inheritance","SPG7","nonsynonymous SNV","SPG7:NM_003119:exon8:c.1091C>T:p.T364M,SPG7:NM_199367:exon8:c.1091C>T:p.T364M","SPG7, paraplegin matrix AAA peptidase subunit","-0.909998092 (10.6043%)","1.38E-18(98.2826%)","16q24.3","rs749416897","0.896:D",{"v":2.04e-05,"d":"2.04E-05"},{"v":5.81e-05,"d":"5.81E-05"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["A1846","Male","chr11",101374928,101374928,"A","G","Het","Dmis","Paternal_inheritance","TRPC6","nonsynonymous SNV","TRPC6:NM_004621:exon2:c.772T>C:p.C258R","transient receptor potential cation channel subfamily C member 6","-1.353000782 (5.01273%)","0.004564105(58.5460%)","11q22.1","-","0.988:D","-","-","-","-"]
["A1843","Male","chr16",89598415,89598415,"C","T","Het","Dmis","Paternal_inheritance","SPG7","nonsynonymous SNV","SPG7:NM_003119:exon8:c.1091C>T:p.T364M,SPG7:NM_199367:exon8:c.1091C>T:p.T364M","SPG7, paraplegin matrix AAA peptidase subunit","-0.909998092 (10.6043%)","1.38E-18(98.2826%)","16q24.3","rs749416897","0.896:D",{"v":2.04e-05,"d":"2.04E-05"},{"v":5.81e-05,"d":"5.81E-05"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["A1843","Male","chr1",39322650,39322650,"T","C","Het","Dmis","Paternal_inheritance","RRAGC","nonsynonymous SNV","RRAGC:NM_001271851:exon2:c.240A>G:p.I80M,RRAGC:NM_022157:exon2:c.342A>G:p.I114M","Ras related GTP binding C","-0.252486589 (34.053%)","0.600078052(27.4129%)","1p34.3","-","0.873:D","-","-","-","-"]
["A1843","Male","chr11",101374928,101374928,"A","G","Het","Dmis","Paternal_inheritance","TRPC6","nonsynonymous SNV","TRPC6:NM_004621:exon2:c.772T>C:p.C258R","transient receptor potential cation channel subfamily C member 6","-1.353000782 (5.01273%)","0.004564105(58.5460%)","11q22.1","-","0.988:D","-","-","-","-"]
["A1783","Female","chr10",61941112,61941112,"C","T","Het","Dmis","Paternal_inheritance","ANK3","nonsynonymous SNV","ANK3:NM_001204404:exon18:c.2108G>A:p.G703E,ANK3:NM_001320874:exon18:c.2159G>A:p.G720E,ANK3:NM_020987:exon18:c.2159G>A:p.G720E,ANK3:NM_001204403:exon19:c.2141G>A:p.G714E","ankyrin 3, node of Ranvier (ankyrin G)","-5.215169063 (0.0752489%)","1(0.1481%)","10q21.2","rs765703723","0.902:D",{"v":3.66e-05,"d":"3.66E-05"},0,"-","-"]
["A1762","Male","chr16",30750744,30750744,"-","C","Het","PTV","Paternal_inheritance","SRCAP","frameshift insertion","SRCAP:NM_006662:exon34:c.9384dupC:p.L3131Tfs*3","Snf2-related CREBBP activator protein","-4.207340364 (0.225747%)","0.999999997(0.6475%)","16p11.2","-","-","-","-","-","-"]
["A1789","Male","chr11",35333953,35333953,"G","A","Het","Dmis","Paternal_inheritance","SLC1A2","nonsynonymous SNV","SLC1A2:NM_004171:exon4:c.353C>T:p.T118M,SLC1A2:NM_001195728:exon5:c.326C>T:p.T109M,SLC1A2:NM_001252652:exon5:c.326C>T:p.T109M","solute carrier family 1 member 2","-0.962290166 (9.68395%)","0.907792747(17.4102%)","11p13","rs754805324","0.754:D",{"v":8.14E-6,"d":"8.14E-06"},{"v":1E-4,"d":"1.00E-04"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A1861","Male","chr11",66460095,66460095,"C","T","Het","Dmis","Paternal_inheritance","SPTBN2","nonsynonymous SNV","SPTBN2:NM_006946:exon25:c.5102G>A:p.R1701H","spectrin beta, non-erythrocytic 2","-3.346725582 (0.509377%)","0.999977957(2.8313%)","11q13.2","rs907900432","0.723:D",{"v":8.38e-06,"d":"8.38E-06"},0,"-","-"]
["A1918","Female","chrX",153689898,153689898,"C","T","Het","Dmis","Paternal_inheritance","PLXNA3","nonsynonymous SNV","PLXNA3:NM_017514:exon3:c.1054C>T:p.R352C","plexin A3","-2.049448229 (1.83492%)","0.983112793(11.1989%)","Xq28","rs374629685","0.822:D","-","-","-","-"]
["A1918","Female","chr3",54914867,54914867,"G","C","Het","Dmis","Paternal_inheritance","CACNA2D3","nonsynonymous SNV","CACNA2D3:NM_018398:exon21:c.1889G>C:p.R630P","calcium voltage-gated channel auxiliary subunit alpha2delta 3","-1.223659583 (6.34406%)","0.998032255(6.8642%)","3p14.3","-","0.730:D","-","-","-","-"]
["A1930","Female","chr2",230656882,230656882,"A","G","Het","Dmis","Paternal_inheritance","TRIP12","nonsynonymous SNV","TRIP12:NM_001284216:exon25:c.3167T>C:p.I1056T,TRIP12:NM_001284215:exon27:c.4076T>C:p.I1359T,TRIP12:NM_001348316:exon27:c.4076T>C:p.I1359T,TRIP12:NM_001348317:exon27:c.4061T>C:p.I1354T,TRIP12:NM_001348318:exon27:c.4061T>C:p.I1354T,TRIP12:NM_001348331:exon27:c.3980T>C:p.I1327T,TRIP12:NM_004238:exon27:c.3977T>C:p.I1326T,TRIP12:NM_001284214:exon28:c.4121T>C:p.I1374T,TRIP12:NM_001348315:exon28:c.4121T>C:p.I1374T,TRIP12:NM_001348319:exon28:c.4187T>C:p.I1396T,TRIP12:NM_001348320:exon28:c.4187T>C:p.I1396T,TRIP12:NM_001348321:exon28:c.4190T>C:p.I1397T,TRIP12:NM_001348323:exon28:c.4202T>C:p.I1401T,TRIP12:NM_001348324:exon28:c.4202T>C:p.I1401T,TRIP12:NM_001348326:exon28:c.4202T>C:p.I1401T,TRIP12:NM_001348327:exon28:c.4202T>C:p.I1401T,TRIP12:NM_001348328:exon28:c.4205T>C:p.I1402T,TRIP12:NM_001348329:exon28:c.4205T>C:p.I1402T,TRIP12:NM_001348330:exon28:c.4205T>C:p.I1402T,TRIP12:NM_001348333:exon28:c.4124T>C:p.I1375T,TRIP12:NM_001348322:exon29:c.4202T>C:p.I1401T,TRIP12:NM_001348325:exon29:c.4202T>C:p.I1401T,TRIP12:NM_001348332:exon29:c.4100T>C:p.I1367T","thyroid hormone receptor interactor 12","-3.20710999 (0.567261%)","1(0.2140%)","2q36.3","-","0.849:D","-","-",{"v":3.23e-05,"d":"3.23E-05"},0]
["A1906","Male","chr10",61802478,61802478,"G","A","Het","Dmis","Paternal_inheritance","ANK3","nonsynonymous SNV","ANK3:NM_001149:exon20:c.2977C>T:p.R993W,ANK3:NM_001320874:exon42:c.5575C>T:p.R1859W,ANK3:NM_001204403:exon43:c.5557C>T:p.R1853W,ANK3:NM_001204404:exon43:c.5578C>T:p.R1860W,ANK3:NM_020987:exon43:c.13105C>T:p.R4369W","ankyrin 3, node of Ranvier (ankyrin G)","-5.215169063 (0.0752489%)","1(0.1481%)","10q21.2","rs556782173","0.803:D",{"v":2.44E-5,"d":"2.44E-05"},{"v":5.8E-5,"d":"5.80E-05"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A1031","Female","chr8",15508309,15508309,"G","C","Het","Dmis","Paternal_inheritance","TUSC3","nonsynonymous SNV","TUSC3:NM_006765:exon3:c.412G>C:p.D138H,TUSC3:NM_178234:exon3:c.412G>C:p.D138H","tumor suppressor candidate 3","-1.080388811 (8.02269%)","0.001898764(61.9918%)","8p22","-","0.765:D","-","-","-","-"]
["A1022","Male","chr16",1256168,1256168,"C","T","Het","Dmis","Paternal_inheritance","CACNA1H","nonsynonymous SNV","CACNA1H:NM_001005407:exon12:c.2668C>T:p.R890C,CACNA1H:NM_021098:exon12:c.2668C>T:p.R890C","calcium voltage-gated channel subunit alpha1 H","-0.405302435 (26.0998%)","0.755916976(22.9081%)","16p13.3","-","0.959:D",{"v":5.05e-06,"d":"5.05E-06"},0,"-","-"]
[9466,"Male","chr15",63926120,63926120,"A","G","Het","Dmis","Paternal_inheritance","HERC1","nonsynonymous SNV","HERC1:NM_003922:exon67:c.12620T>C:p.M4207T","HECT and RLD domain containing E3 ubiquitin protein ligase family member 1","-6.429196083 (0.0578838%)","1(0.2359%)","15q22.31","-","0.799:D","-","-","-","-"]
[9466,"Male","chr1",27092857,27092857,"G","A","Het","Dmis","Paternal_inheritance","ARID1A","nonsynonymous SNV;potential splicing","ARID1A:NM_006015:exon9:c.2878G>A:p.G960R,ARID1A:NM_139135:exon9:c.2878G>A:p.G960R","-","-","0.999999997(0.6584%)","1p36.11","-","0.837:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":0,"d":"0.00E+00"},{"v":6.46e-05,"d":"6.46E-05"},0]
["A916","Female","chr13",101167783,101167783,"G","A","Het","Dmis","Paternal_inheritance","PCCA","nonsynonymous SNV","PCCA:NM_001127692:exon21:c.1924G>A:p.G642R,PCCA:NM_000282:exon22:c.2002G>A:p.G668R","propionyl-CoA carboxylase alpha subunit","-0.84576154 (11.8835%)","2.13E-10(92.3512%)","13q32.3","rs771438170","0.996:D",{"v":1.22E-5,"d":"1.22E-05"},1E-4,"-","-"]
["A916","Female","chr7",107615442,107615442,"C","A","Het","Dmis","Paternal_inheritance","LAMB1","nonsynonymous SNV","LAMB1:NM_002291:exon12:c.1471G>T:p.D491Y","laminin subunit beta 1","-1.235752647 (6.17041%)","1.79E-06(81.4540%)","7q31.1","-","0.876:D","-","-","-","-"]
["A995","Male","chr11",31815039,31815039,"T","C","Het","Dmis","Paternal_inheritance","PAX6","nonsynonymous SNV","PAX6:NM_001310160:exon8:c.571A>G:p.S191G,PAX6:NM_001310159:exon9:c.979A>G:p.S327G,PAX6:NM_001310161:exon9:c.571A>G:p.S191G,PAX6:NM_001258465:exon10:c.979A>G:p.S327G,PAX6:NM_000280:exon11:c.979A>G:p.S327G,PAX6:NM_001127612:exon11:c.979A>G:p.S327G,PAX6:NM_001258464:exon11:c.979A>G:p.S327G,PAX6:NM_001258462:exon12:c.1021A>G:p.S341G,PAX6:NM_001258463:exon12:c.1021A>G:p.S341G,PAX6:NM_001310158:exon12:c.1021A>G:p.S341G,PAX6:NM_001604:exon12:c.1021A>G:p.S341G","paired box 6","-0.744689179 (14.3031%)","0.998807897(6.0686%)","11p13","-","0.775:D","-","-","-","-"]
["A961","Female","chr22",41574953,41574953,"T","A","Het","Dmis","Paternal_inheritance","EP300","nonsynonymous SNV","EP300:NM_001429:exon31:c.7238T>A:p.I2413K","E1A binding protein p300","-4.105042369 (0.237323%)","1(0.2085%)","22q13.2","-","0.831:D","-","-",{"v":3.26E-5,"d":"3.26E-05"},0.0006]
["A949","Male","chr19",52724334,52724334,"T","A","Het","Dmis","Paternal_inheritance","PPP2R1A","nonsynonymous SNV","PPP2R1A:NM_014225:exon12:c.1466T>A:p.M489K","protein phosphatase 2 regulatory subunit A, alpha","-0.972756633 (9.46978%)","0.719603753(24.0329%)","19q13.41","-","0.895:D","-","-","-","-"]
["A940","Female","chr22",41574953,41574953,"T","A","Het","Dmis","Paternal_inheritance","EP300","nonsynonymous SNV","EP300:NM_001429:exon31:c.7238T>A:p.I2413K","E1A binding protein p300","-4.105042369 (0.237323%)","1(0.2085%)","22q13.2","-","0.831:D","-","-",{"v":3.26E-5,"d":"3.26E-05"},0.0006]
["A940","Female","chr19",13201190,13201190,"C","T","Het","Dmis","Paternal_inheritance","NFIX","nonsynonymous SNV","NFIX:NM_001271043:exon10:c.1504C>T:p.P502S","nuclear factor I/X (CCAAT-binding transcription factor)","-0.76499676 (13.7821%)","0.989066455(10.0905%)","19p13.2","-","0.717:D","-","-","-","-"]
["A952","Female","chr1",114442930,114442930,"A","G","Het","Dmis","Paternal_inheritance","AP4B1","nonsynonymous SNV","AP4B1:NM_001308312:exon2:c.206T>C:p.L69P,AP4B1:NM_001253852:exon5:c.710T>C:p.L237P,AP4B1:NM_001253853:exon6:c.413T>C:p.L138P,AP4B1:NM_006594:exon6:c.710T>C:p.L237P","adaptor related protein complex 4 beta 1 subunit","-0.343874938 (29.0634%)","2.69E-08(87.7421%)","1p13.2","-","0.854:D","-","-","-","-"]
["A952","Female","chr8",41834576,41834576,"C","T","Het","Dmis","Paternal_inheritance","KAT6A","nonsynonymous SNV","KAT6A:NM_001305878:exon7:c.1313G>A:p.R438Q,KAT6A:NM_006766:exon7:c.1313G>A:p.R438Q","lysine acetyltransferase 6A","-1.760216882 (2.72054%)","0.999999985(0.8011%)","8p11.21","-","0.706:D",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
["A2077","Male","chr8",17928844,17928844,"T","C","Het","Dmis","Paternal_inheritance","ASAH1","nonsynonymous SNV","ASAH1:NM_004315:exon3:c.229A>G:p.R77G,ASAH1:NM_177924:exon3:c.181A>G:p.R61G,ASAH1:NM_001127505:exon4:c.250A>G:p.R84G","N-acylsphingosine amidohydrolase (acid ceramidase) 1","1.828123426 (97.6846%)","5.36E-11(93.2675%)","8p22","-","0.986:D",{"v":4.2e-06,"d":"4.20E-06"},{"v":5.84e-05,"d":"5.84E-05"},"-","-"]
["A2008","Female","chr1",153784503,153784503,"G","A","Het","Dmis","Paternal_inheritance","GATAD2B","nonsynonymous SNV","GATAD2B:NM_020699:exon9:c.1525C>T:p.R509W","GATA zinc finger domain containing 2B","-0.647683512 (16.9194%)","0.998594716(6.3429%)","1q21.3","-","0.781:D","-","-","-","-"]
["A2170","Male","chr14",53522429,53522429,"G","A","Het","Dmis","Paternal_inheritance","DDHD1","nonsynonymous SNV","DDHD1:NM_001160148:exon10:c.2194C>T:p.R732C,DDHD1:NM_030637:exon10:c.2194C>T:p.R732C,DDHD1:NM_001160147:exon11:c.2215C>T:p.R739C","DDHD domain containing 1","-0.743446591 (14.3262%)","0.968458214(13.1303%)","14q22.1","rs764869346","0.852:D",{"v":1.22E-5,"d":"1.22E-05"},1E-4,"-","-"]
["A2017","Female","chr1",153784503,153784503,"G","A","Het","Dmis","Paternal_inheritance","GATAD2B","nonsynonymous SNV","GATAD2B:NM_020699:exon9:c.1525C>T:p.R509W","GATA zinc finger domain containing 2B","-0.647683512 (16.9194%)","0.998594716(6.3429%)","1q21.3","-","0.781:D","-","-","-","-"]
["A2020","Male","chr5",65349797,65349797,"A","G","Het","Dmis","Paternal_inheritance","ERBIN","nonsynonymous SNV","ERBIN:NM_001006600:exon21:c.2651A>G:p.Y884C,ERBIN:NM_001253697:exon21:c.2651A>G:p.Y884C,ERBIN:NM_001253698:exon21:c.2651A>G:p.Y884C,ERBIN:NM_001253699:exon21:c.2651A>G:p.Y884C,ERBIN:NM_001253701:exon21:c.2639A>G:p.Y880C,ERBIN:NM_018695:exon21:c.2651A>G:p.Y884C","erbb2 interacting protein","-","-","5q12.3","rs747561237","0.963:D",{"v":1.63E-5,"d":"1.63E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2020","Male","chr9",439338,439338,"G","A","Het","Dmis","Paternal_inheritance","DOCK8","nonsynonymous SNV","DOCK8:NM_001190458:exon38:c.4873G>A:p.E1625K,DOCK8:NM_001193536:exon39:c.4969G>A:p.E1657K,DOCK8:NM_203447:exon40:c.5173G>A:p.E1725K","dedicator of cytokinesis 8","-0.828277355 (12.254%)","0.000135434(70.9410%)","9p24.3","rs747368033","0.899:D",{"v":1.63E-5,"d":"1.63E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2149","Male","chr5",36986251,36986251,"G","A","Het","Dmis","Paternal_inheritance","NIPBL","nonsynonymous SNV","NIPBL:NM_015384:exon10:c.2969G>A:p.G990E,NIPBL:NM_133433:exon10:c.2969G>A:p.G990E","Nipped-B homolog (Drosophila)","-3.654253101 (0.405186%)","1(0.0055%)","5p13.2","-","0.883:D","-","-","-","-"]
["A2092","Female","chr17",1631087,1631090,"TGTT","-","Het","PTV","Paternal_inheritance","WDR81","frameshift deletion","WDR81:NM_001163809:exon1:c.2834_2837del:p.F946Sfs*16","WD repeat domain 81","-","1.26E-05(77.4266%)","17p13.3","-","-","-","-","-","-"]
["A1945","Male","chr3",54933869,54933869,"A","G","Het","Dmis","Paternal_inheritance","CACNA2D3","nonsynonymous SNV","CACNA2D3:NM_018398:exon27:c.2423A>G:p.D808G","calcium voltage-gated channel auxiliary subunit alpha2delta 3","-1.223659583 (6.34406%)","0.998032255(6.8642%)","3p14.3","-","0.823:D","-","-","-","-"]
["A1951","Female","chr12",106897915,106897915,"G","A","Het","Dmis","Paternal_inheritance","POLR3B","nonsynonymous SNV","POLR3B:NM_001160708:exon27:c.2981G>A:p.R994H,POLR3B:NM_018082:exon27:c.3155G>A:p.R1052H","polymerase (RNA) III subunit B","-1.672979324 (3.05047%)","2.73E-09(90.1893%)","12q23.3","-","0.911:D","-","-","-","-"]
["A2200","Female","chr16",2134293,2134293,"T","A","Het","Dmis","Paternal_inheritance","TSC2","nonsynonymous SNV","TSC2:NM_001318831:exon30:c.3338T>A:p.I1113N,TSC2:NM_001318827:exon31:c.3761T>A:p.I1254N,TSC2:NM_001318829:exon31:c.3725T>A:p.I1242N,TSC2:NM_001077183:exon32:c.3869T>A:p.I1290N,TSC2:NM_001318832:exon32:c.3902T>A:p.I1301N,TSC2:NM_001114382:exon33:c.4001T>A:p.I1334N,TSC2:NM_000548:exon34:c.4070T>A:p.I1357N","tuberous sclerosis 2","-2.944580835 (0.729335%)","0.999999983(0.8176%)","16p13.3","rs878854103","0.808:D",{"v":4.12e-06,"d":"4.12E-06"},{"v":5.81e-05,"d":"5.81E-05"},"-","-"]
["A2203","Male","chr6",131926613,131926613,"C","G","Het","Dmis","Paternal_inheritance","MED23","nonsynonymous SNV","MED23:NM_001270521:exon14:c.1380G>C:p.Q460H,MED23:NM_001270522:exon14:c.1380G>C:p.Q460H,MED23:NM_004830:exon14:c.1380G>C:p.Q460H,MED23:NM_015979:exon15:c.1398G>C:p.Q466H","mediator complex subunit 23","-1.849845213 (2.40218%)","0.150657691(40.5158%)","6q23.2","rs752994789","0.792:D",{"v":4.33E-6,"d":"4.33E-06"},{"v":6.02E-5,"d":"6.02E-05"},"-","-"]
[10200,"Female","chr21",35239556,35239556,"G","A","Het","Dmis","Paternal_inheritance","ITSN1","nonsynonymous SNV","ITSN1:NM_001331010:exon32:c.4079G>A:p.R1360Q,ITSN1:NM_003024:exon33:c.4094G>A:p.R1365Q","intersectin 1","-2.89301104 (0.758277%)","0.999999974(0.8724%)","21q22.11","rs754793119","0.755:D",{"v":2.03e-05,"d":"2.03E-05"},{"v":1E-4,"d":"1.00E-04"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A671","Male","chr1",175375503,175375503,"G","C","Het","Dmis","Paternal_inheritance","TNR","nonsynonymous SNV","TNR:NM_003285:exon3:c.348C>G:p.H116Q","tenascin R","-0.089910353 (44.148%)","0.987762732(10.4088%)","1q25.1","rs761937844","0.842:D",{"v":1.22E-5,"d":"1.22E-05"},{"v":1E-4,"d":"1.00E-04"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["A2293","Female","chr8",141297818,141297818,"C","A","Het","PTV","Paternal_inheritance","TRAPPC9","stopgain","TRAPPC9:NM_001321646:exon12:c.1843G>T:p.G615X,TRAPPC9:NM_001160372:exon13:c.1870G>T:p.G624X,TRAPPC9:NM_031466:exon13:c.2164G>T:p.G722X","trafficking protein particle complex 9","-0.329836902 (29.8217%)","5.76E-06(79.2209%)","8q24.3","-","0.910:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2413","Male","chr15",72637851,72637851,"T","A","Het","PTV","Paternal_inheritance","HEXA","stopgain","HEXA:NM_000520:exon13:c.1462A>T:p.K488X,HEXA:NM_001318825:exon13:c.1495A>T:p.K499X","hexosaminidase subunit alpha","-0.266236653 (33.2079%)","5.05E-07(83.6818%)","15q23","-","0.335:T","-","-","-","-"]
["A2410","Female","chr17",14110457,14110457,"C","T","Het","Dmis","Paternal_inheritance","COX10","nonsynonymous SNV","COX10:NM_001303:exon7:c.1259C>T:p.P420L","COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor","0.572098044 (80.9505%)","0.646572546(26.0850%)","17p12","rs773079584","0.864:D",{"v":1.65e-05,"d":"1.65E-05"},{"v":0,"d":"0.00E+00"},{"v":3.24e-05,"d":"3.24E-05"},0.0006]
["A2353","Male","chr8",61773638,61773638,"T","C","Het","Dmis","Paternal_inheritance","CHD7","nonsynonymous SNV","CHD7:NM_017780:exon35:c.7784T>C:p.L2595P","chromodomain helicase DNA binding protein 7","-2.248811659 (1.42973%)","1(0.1920%)","8q12.2","-","0.979:D","-","-","-","-"]
["A2353","Male","chr17",76459069,76459069,"G","A","Het","Dmis","Paternal_inheritance","DNAH17","nonsynonymous SNV","DNAH17:NM_173628:exon57:c.9031C>T:p.R3011C","dynein axonemal heavy chain 17","-","-","17q25.3","rs745789398","0.904:D",{"v":8.12e-06,"d":"8.12E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2386","Female","chr3",183858393,183858393,"G","A","Het","Dmis","Paternal_inheritance","EIF2B5","nonsynonymous SNV","EIF2B5:NM_003907:exon7:c.1031G>A:p.R344Q","eukaryotic translation initiation factor 2B subunit epsilon","-0.811079202 (12.6534%)","0.996711861(7.6379%)","3q27.1","rs755584111","0.906:D",{"v":1.22E-5,"d":"1.22E-05"},0,"-","-"]
["A2395","Female","chr5",149677769,149677769,"T","C","Het","Dmis","Paternal_inheritance","ARSI","nonsynonymous SNV","ARSI:NM_001012301:exon2:c.718A>G:p.T240A","arylsulfatase family member I","-0.379955502 (27.3211%)","1.05E-09(91.0453%)","5q32","-","0.832:D","-","-","-","-"]
["A2380","Male","chr11",2187990,2187990,"C","T","Het","Dmis","Paternal_inheritance","TH","nonsynonymous SNV","TH:NM_000360:exon8:c.850G>A:p.G284S,TH:NM_199292:exon9:c.943G>A:p.G315S,TH:NM_199293:exon9:c.931G>A:p.G311S","tyrosine hydroxylase","0.203301238 (64.0658%)","0.004098744(58.9355%)","11p15.5","-","0.989:D",{"v":7.24e-06,"d":"7.24E-06"},1E-4,"-","-"]
["A2392","Male","chr5",149677769,149677769,"T","C","Het","Dmis","Paternal_inheritance","ARSI","nonsynonymous SNV","ARSI:NM_001012301:exon2:c.718A>G:p.T240A","arylsulfatase family member I","-0.379955502 (27.3211%)","1.05E-09(91.0453%)","5q32","-","0.832:D","-","-","-","-"]
["A2377","Female","chr2",50724852,50724852,"C","T","Het","Dmis","Paternal_inheritance","NRXN1","nonsynonymous SNV;potential splicing","NRXN1:NM_001330087:exon9:c.2387G>A:p.G796D,NRXN1:NM_001330096:exon9:c.2387G>A:p.G796D,NRXN1:NM_001330083:exon10:c.2432G>A:p.G811D,NRXN1:NM_001330084:exon10:c.2432G>A:p.G811D,NRXN1:NM_001330088:exon10:c.2417G>A:p.G806D,NRXN1:NM_001330095:exon12:c.2447G>A:p.G816D,NRXN1:NM_001330077:exon13:c.2474G>A:p.G825D,NRXN1:NM_001330082:exon13:c.2474G>A:p.G825D,NRXN1:NM_001330085:exon13:c.2471G>A:p.G824D,NRXN1:NM_001330094:exon13:c.2486G>A:p.G829D,NRXN1:NM_001330078:exon14:c.2498G>A:p.G833D,NRXN1:NM_001330086:exon14:c.2498G>A:p.G833D,NRXN1:NM_001330093:exon14:c.2495G>A:p.G832D,NRXN1:NM_004801:exon14:c.2498G>A:p.G833D,NRXN1:NM_001135659:exon15:c.2618G>A:p.G873D","-","-","0.999948738(3.2209%)","2p16.3","-","0.910:D","-","-","-","-"]
["A2658","Male","chr6",152485350,152485350,"A","T","Het","Dmis","Paternal_inheritance","SYNE1","nonsynonymous SNV","SYNE1:NM_001347702:exon2:c.203T>A:p.V68D,SYNE1:NM_001347701:exon4:c.344T>A:p.V115D,SYNE1:NM_033071:exon130:c.23525T>A:p.V7842D,SYNE1:NM_182961:exon131:c.23738T>A:p.V7913D","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.1","rs746086003","0.701:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2449","Male","chr7",70255914,70255914,"A","G","Het","Dmis","Paternal_inheritance","AUTS2","nonsynonymous SNV","AUTS2:NM_001127231:exon18:c.3640A>G:p.T1214A,AUTS2:NM_015570:exon19:c.3712A>G:p.T1238A","autism susceptibility candidate 2","-1.963042912 (2.0896%)","0.996187482(7.8573%)","7q11.22","-","0.759:D",{"v":5.19e-06,"d":"5.19E-06"},{"v":6.4e-05,"d":"6.40E-05"},"-","-"]
["A2449","Male","chr6",107824975,107824975,"C","T","Het","Dmis","Paternal_inheritance","SOBP","nonsynonymous SNV","SOBP:NM_018013:exon2:c.211C>T:p.R71W","sine oculis binding protein homolog","-0.501790511 (21.7643%)","-","6q21","-","0.864:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
["A2470","Male","chr16",89261493,89261493,"G","A","Het","PTV","Paternal_inheritance","CDH15","stopgain","CDH15:NM_004933:exon14:c.2375G>A:p.W792X","cadherin 15","0.200015955 (63.8921%)","5.96E-12(94.4911%)","16q24.3","-","0.229:T",{"v":4.1e-06,"d":"4.10E-06"},0,"-","-"]
["A2479","Female","chr22",51018685,51018685,"A","G","Het","Dmis","Paternal_inheritance","CHKB","nonsynonymous SNV","CHKB:NM_005198:exon7:c.752T>C:p.L251P","choline kinase beta","-0.388072036 (26.968%)","0.000644971(66.1893%)","22q13.33","-","0.907:D","-","-","-","-"]
["A2649","Female","chr9",133901911,133901911,"G","A","Het","Dmis","Paternal_inheritance","LAMC3","nonsynonymous SNV","LAMC3:NM_006059:exon2:c.613G>A:p.V205M","laminin subunit gamma 3","2.420983809 (99.016%)","9.82E-11(92.8999%)","9q34.12","-","0.931:D","-","-",{"v":3.23e-05,"d":"3.23E-05"},0]
["A2637","Male","chr17",76447610,76447610,"C","T","Het","Dmis","Paternal_inheritance","DNAH17","nonsynonymous SNV","DNAH17:NM_173628:exon66:c.10675G>A:p.E3559K","dynein axonemal heavy chain 17","-","-","17q25.3","-","0.858:D",{"v":8.13e-06,"d":"8.13E-06"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["A2510","Male","chr6",152454500,152454500,"T","A","Het","Dmis","Paternal_inheritance","SYNE1","nonsynonymous SNV","SYNE1:NM_001347702:exon15:c.2446A>T:p.I816F,SYNE1:NM_001347701:exon16:c.2518A>T:p.I840F,SYNE1:NM_033071:exon143:c.25768A>T:p.I8590F,SYNE1:NM_182961:exon143:c.25912A>T:p.I8638F","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.1","-","0.929:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2534","Female","chr17",45012602,45012603,"TG","-","Het","PTV","Paternal_inheritance","GOSR2","frameshift deletion","GOSR2:NM_001012511:exon5:c.544_545del:p.V183Lfs*19","golgi SNAP receptor complex member 2","0.063508308 (54.8564%)","0.000289194(68.7243%)","17q21.32","-","-",{"v":8.19e-06,"d":"8.19E-06"},0,"-","-"]
["A2540","Female","chr15",93563392,93563392,"C","G","Het","Dmis","Paternal_inheritance","CHD2","nonsynonymous SNV","CHD2:NM_001271:exon38:c.5057C>G:p.S1686C","chromodomain helicase DNA binding protein 2","-2.675987475 (0.92614%)","0.999999999(0.5487%)","15q26.1","rs369105606","0.829:D","-","-","-","-"]
["A2513","Female","chr7",151836798,151836798,"C","G","Het","Dmis","Paternal_inheritance","KMT2C","nonsynonymous SNV","KMT2C:NM_170606:exon56:c.14422G>C:p.E4808Q","lysine methyltransferase 2C","-0.714419772 (15.1192%)","1(0.0878%)","7q36.1","-","0.720:D","-","-","-","-"]
["A2495","Male","chr2",206037034,206037034,"A","G","Het","Dmis","Paternal_inheritance","PARD3B","nonsynonymous SNV","PARD3B:NM_152526:exon11:c.1534A>G:p.M512V,PARD3B:NM_001302769:exon12:c.1720A>G:p.M574V,PARD3B:NM_057177:exon12:c.1720A>G:p.M574V,PARD3B:NM_205863:exon12:c.1720A>G:p.M574V","par-3 family cell polarity regulator beta","0.394809114 (73.7902%)","8.65E-08(86.2387%)","2q33.3","rs772124997","0.802:D",{"v":2.03e-05,"d":"2.03E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2504","Male","chr2",230638916,230638916,"T","C","Het","Dmis","Paternal_inheritance","TRIP12","nonsynonymous SNV","TRIP12:NM_001284216:exon35:c.4556A>G:p.D1519G,TRIP12:NM_001284215:exon37:c.5465A>G:p.D1822G,TRIP12:NM_001348316:exon37:c.5465A>G:p.D1822G,TRIP12:NM_001348317:exon37:c.5450A>G:p.D1817G,TRIP12:NM_001348318:exon37:c.5450A>G:p.D1817G,TRIP12:NM_001348331:exon37:c.5369A>G:p.D1790G,TRIP12:NM_004238:exon37:c.5366A>G:p.D1789G,TRIP12:NM_001284214:exon38:c.5510A>G:p.D1837G,TRIP12:NM_001348315:exon38:c.5510A>G:p.D1837G,TRIP12:NM_001348319:exon38:c.5576A>G:p.D1859G,TRIP12:NM_001348320:exon38:c.5576A>G:p.D1859G,TRIP12:NM_001348321:exon38:c.5579A>G:p.D1860G,TRIP12:NM_001348323:exon38:c.5591A>G:p.D1864G,TRIP12:NM_001348324:exon38:c.5591A>G:p.D1864G,TRIP12:NM_001348326:exon38:c.5591A>G:p.D1864G,TRIP12:NM_001348327:exon38:c.5591A>G:p.D1864G,TRIP12:NM_001348328:exon38:c.5594A>G:p.D1865G,TRIP12:NM_001348329:exon38:c.5594A>G:p.D1865G,TRIP12:NM_001348330:exon38:c.5594A>G:p.D1865G,TRIP12:NM_001348333:exon38:c.5513A>G:p.D1838G,TRIP12:NM_001348322:exon39:c.5591A>G:p.D1864G,TRIP12:NM_001348325:exon39:c.5591A>G:p.D1864G,TRIP12:NM_001348332:exon39:c.5489A>G:p.D1830G","thyroid hormone receptor interactor 12","-3.20710999 (0.567261%)","1(0.2140%)","2q36.3","-","0.938:D","-","-","-","-"]
["A2722","Male","chr10",123310895,123310895,"C","T","Het","Dmis","Paternal_inheritance","FGFR2","nonsynonymous SNV","FGFR2:NM_001144916:exon2:c.188G>A:p.R63H,FGFR2:NM_001144918:exon3:c.188G>A:p.R63H,FGFR2:NM_023029:exon3:c.266G>A:p.R89H,FGFR2:NM_001144913:exon4:c.533G>A:p.R178H,FGFR2:NM_001144914:exon4:c.533G>A:p.R178H,FGFR2:NM_001144915:exon4:c.266G>A:p.R89H,FGFR2:NM_001144919:exon4:c.266G>A:p.R89H,FGFR2:NM_000141:exon5:c.533G>A:p.R178H,FGFR2:NM_001144917:exon5:c.533G>A:p.R178H,FGFR2:NM_001320658:exon5:c.533G>A:p.R178H,FGFR2:NM_022970:exon5:c.533G>A:p.R178H","fibroblast growth factor receptor 2","-1.085865264 (7.94744%)","0.999752493(4.4170%)","10q26.13","rs141796960","0.891:D",{"v":8.12e-06,"d":"8.12E-06"},{"v":5.8E-5,"d":"5.80E-05"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A2728","Female","chr2",86090537,86090537,"G","A","Het","PTV","Paternal_inheritance","ST3GAL5","stopgain","ST3GAL5:NM_001042437:exon2:c.85C>T:p.R29X,ST3GAL5:NM_003896:exon2:c.154C>T:p.R52X","ST3 beta-galactoside alpha-2,3-sialyltransferase 5","0.054447414 (54.2602%)","0.02785491(50.0302%)","2p11.2","rs748497823","0.436:T",{"v":1.62e-05,"d":"1.62E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2737","Male","chr2",122165083,122165083,"C","T","Het","Dmis","Paternal_inheritance","CLASP1","nonsynonymous SNV","CLASP1:NM_001142274:exon25:c.2549G>A:p.G850D,CLASP1:NM_001207051:exon25:c.2567G>A:p.G856D,CLASP1:NM_015282:exon25:c.2633G>A:p.G878D,CLASP1:NM_001142273:exon26:c.2573G>A:p.G858D","cytoplasmic linker associated protein 1","-","0.999999989(0.7572%)","2q14.2","-","0.897:D","-","-","-","-"]
["A2743","Male","chr16",78466521,78466521,"C","A","Het","Dmis","Paternal_inheritance","WWOX","nonsynonymous SNV","WWOX:NM_001291997:exon7:c.589C>A:p.R197S,WWOX:NM_016373:exon8:c.928C>A:p.R310S","WW domain containing oxidoreductase","2.097512386 (98.4256%)","1.94E-08(88.1372%)","16q23.1","-","0.966:D","-","-","-","-"]
["A2743","Male","chr8",141381254,141381254,"C","T","Het","Dmis","Paternal_inheritance","TRAPPC9","nonsynonymous SNV","TRAPPC9:NM_001321646:exon7:c.1133G>A:p.R378H,TRAPPC9:NM_001160372:exon8:c.1160G>A:p.R387H,TRAPPC9:NM_031466:exon8:c.1454G>A:p.R485H","trafficking protein particle complex 9","-0.329836902 (29.8217%)","5.76E-06(79.2209%)","8q24.3","-","0.913:D",{"v":4.13e-06,"d":"4.13E-06"},{"v":5.85e-05,"d":"5.85E-05"},"-","-"]
["A2755","Male","chr2",167159699,167159699,"T","C","Het","Dmis","Paternal_inheritance","SCN9A","nonsynonymous SNV","SCN9A:NM_002977:exon7:c.802A>G:p.M268V","sodium voltage-gated channel alpha subunit 9","0.192209185 (63.3422%)","9.30E-13(95.2483%)","2q24.3","rs766933679","0.963:D",{"v":8.14E-6,"d":"8.14E-06"},0,"-","-"]
["A2791","Male","chr5",14399025,14399025,"T","A","Het","Dmis","Paternal_inheritance","TRIO","nonsynonymous SNV","TRIO:NM_007118:exon30:c.4460T>A:p.I1487N","trio Rho guanine nucleotide exchange factor","-4.532800748 (0.150498%)","1(0.1536%)","5p15.2","-","0.831:D","-","-","-","-"]
["A2791","Male","chr11",126314930,126314930,"C","T","Het","Dmis","Paternal_inheritance","KIRREL3","nonsynonymous SNV","KIRREL3:NM_001161707:exon10:c.1196G>A:p.R399Q,KIRREL3:NM_001301097:exon10:c.1196G>A:p.R399Q,KIRREL3:NM_032531:exon10:c.1196G>A:p.R399Q","kin of IRRE like 3 (Drosophila)","-0.701267867 (15.4897%)","0.977505781(12.0933%)","11q24.2","rs375260772","0.717:D",{"v":7.31e-05,"d":"7.31E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2794","Male","chr3",136046051,136046051,"C","T","Het","Dmis","Paternal_inheritance","PCCB","nonsynonymous SNV","PCCB:NM_000532:exon12:c.1253C>T:p.A418V,PCCB:NM_001178014:exon13:c.1313C>T:p.A438V","propionyl-CoA carboxylase beta subunit","0.356066389 (71.9495%)","0.000735839(65.7394%)","3q22.3","-","0.998:D","-","-","-","-"]
["A2827","Male","chr4",128803026,128803026,"C","T","Het","Dmis","Paternal_inheritance","PLK4","nonsynonymous SNV","PLK4:NM_001190799:exon2:c.71C>T:p.A24V,PLK4:NM_014264:exon2:c.71C>T:p.A24V","polo like kinase 4","-0.419167564 (25.301%)","0.777981749(22.2936%)","4q28.2","-","0.913:D","-","-","-","-"]
["A2827","Male","chr4",56830455,56830455,"C","T","Het","PTV","Paternal_inheritance","CEP135","stopgain","CEP135:NM_025009:exon7:c.715C>T:p.R239X","centrosomal protein 135kDa","-0.199553409 (36.9993%)","4.85E-17(97.7833%)","4q12","rs760955800","0.572:T",{"v":8.22e-06,"d":"8.22E-06"},{"v":5.87e-05,"d":"5.87E-05"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A2842","Male","chr18",48584567,48584567,"G","A","Het","Dmis","Paternal_inheritance","SMAD4","nonsynonymous SNV","SMAD4:NM_005359:exon6:c.740G>A:p.G247E","SMAD family member 4","-0.451958419 (23.825%)","0.967432536(13.2675%)","18q21.2","-","0.758:D","-","-","-","-"]
["A2845","Male","chr16",1256169,1256169,"G","A","Het","Dmis","Paternal_inheritance","CACNA1H","nonsynonymous SNV","CACNA1H:NM_001005407:exon12:c.2669G>A:p.R890H,CACNA1H:NM_021098:exon12:c.2669G>A:p.R890H","calcium voltage-gated channel subunit alpha1 H","-0.405302435 (26.0998%)","0.755916976(22.9081%)","16p13.3","rs750793774","0.955:D",{"v":5.04E-6,"d":"5.04E-06"},{"v":7.03e-05,"d":"7.03E-05"},"-","-"]
["A2845","Male","chr13",25466856,25466856,"T","A","Het","Dmis","Paternal_inheritance","CENPJ","nonsynonymous SNV","CENPJ:NM_018451:exon10:c.3141A>T:p.R1047S","centromere protein J","0.700358238 (84.8287%)","3.03E-21(98.8697%)","13q12.12","-","0.754:D","-","-","-","-"]
["A2671","Female","chr6",152629709,152629709,"A","G","Het","Dmis","Paternal_inheritance","SYNE1","nonsynonymous SNV","SYNE1:NM_033071:exon90:c.17048T>C:p.I5683T,SYNE1:NM_182961:exon91:c.17261T>C:p.I5754T","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.2","rs779085603","0.837:D",{"v":8.12e-06,"d":"8.12E-06"},1E-4,"-","-"]
["A2683","Male","chr4",85758113,85758113,"C","T","Het","Dmis","Paternal_inheritance","WDFY3","nonsynonymous SNV","WDFY3:NM_014991:exon7:c.545G>A:p.R182H","WD repeat and FYVE domain containing 3","-5.034619678 (0.0984024%)","1(0.0055%)","4q21.23","-","0.828:D",0,0,"-","-"]
["A2719","Male","chr3",53707812,53707812,"G","A","Het","Dmis","Paternal_inheritance","CACNA1D","nonsynonymous SNV","CACNA1D:NM_000720:exon8:c.1189G>A:p.V397I","calcium voltage-gated channel subunit alpha1 D","-3.707735568 (0.382033%)","1(0.2798%)","3p21.1","rs201881377","0.820:D",{"v":2.84e-05,"d":"2.84E-05"},{"v":0,"d":"0.00E+00"},{"v":9.72e-05,"d":"9.72E-05"},0]
["A2719","Male","chr21",47969704,47969704,"C","-","Het","PTV","Paternal_inheritance","DIP2A","frameshift deletion","DIP2A:NM_001146116:exon22:c.2531delC:p.V845Cfs*25,DIP2A:NM_015151:exon22:c.2543delC:p.V849Cfs*25,DIP2A:NM_206889:exon22:c.2543delC:p.V849Cfs*25","disco interacting protein 2 homolog A","-1.954202731 (2.11855%)","0.726099074(23.8134%)","21q22.3","-","-","-","-","-","-"]
["A890","Male","chr3",39116380,39116380,"C","T","Het","Dmis","Paternal_inheritance","WDR48","nonsynonymous SNV","WDR48:NM_001303402:exon7:c.590C>T:p.T197I,WDR48:NM_001346227:exon7:c.311C>T:p.T104I,WDR48:NM_001303403:exon8:c.809C>T:p.T270I,WDR48:NM_001346226:exon8:c.665C>T:p.T222I,WDR48:NM_001346228:exon8:c.626C>T:p.T209I,WDR48:NM_020839:exon8:c.836C>T:p.T279I,WDR48:NM_001346225:exon9:c.950C>T:p.T317I","WD repeat domain 48","-1.110538523 (7.5712%)","0.999805648(4.2195%)","3p22.2","-","0.848:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2891","Female","chr8",141381120,141381120,"G","A","Het","Dmis","Paternal_inheritance","TRAPPC9","nonsynonymous SNV","TRAPPC9:NM_001321646:exon7:c.1267C>T:p.L423F,TRAPPC9:NM_001160372:exon8:c.1294C>T:p.L432F,TRAPPC9:NM_031466:exon8:c.1588C>T:p.L530F","trafficking protein particle complex 9","-0.329836902 (29.8217%)","5.76E-06(79.2209%)","8q24.3","-","0.828:D","-","-","-","-"]
["A2894","Male","chr5",170632540,170632540,"G","A","Het","Dmis","Paternal_inheritance","RANBP17","nonsynonymous SNV","RANBP17:NM_022897:exon20:c.2155G>A:p.G719R","RAN binding protein 17","0.062242183 (54.758%)","8.61E-36(99.7970%)","5q35.1","rs199577427","0.927:D",{"v":5.29e-05,"d":"5.29E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A2734","Male","chr1",1959621,1959621,"A","G","Het","Dmis","Paternal_inheritance","GABRD","nonsynonymous SNV","GABRD:NM_000815:exon6:c.581A>G:p.Y194C","gamma-aminobutyric acid type A receptor delta subunit","-0.52053282 (20.9423%)","0.923498878(16.4280%)","1p36.33","-","0.950:D","-","-","-","-"]
["A2925","Female","chr10",114925397,114925397,"C","T","Het","Dmis","Paternal_inheritance","TCF7L2","nonsynonymous SNV","TCF7L2:NM_001146285:exon13:c.1406C>T:p.S469L,TCF7L2:NM_001198526:exon13:c.1406C>T:p.S469L,TCF7L2:NM_001146274:exon14:c.1475C>T:p.S492L,TCF7L2:NM_030756:exon14:c.1457C>T:p.S486L","transcription factor 7 like 2","-0.890122996 (11.0269%)","0.989605029(9.9753%)","10q25.3","rs773530340","0.925:D",{"v":2.45e-05,"d":"2.45E-05"},0,"-","-"]
["A2938","Female","chr6",43113009,43113009,"G","C","Het","Dmis","Paternal_inheritance","PTK7","nonsynonymous SNV","PTK7:NM_152881:exon13:c.2089G>C:p.V697L,PTK7:NM_152880:exon15:c.2359G>C:p.V787L,PTK7:NM_152882:exon15:c.2311G>C:p.V771L,PTK7:NM_001270398:exon16:c.2503G>C:p.V835L,PTK7:NM_002821:exon16:c.2479G>C:p.V827L","protein tyrosine kinase 7 (inactive)","-1.399907107 (4.57861%)","0.975879481(12.2414%)","6p21.1","-","0.930:D","-","-","-","-"]
["A2938","Female","chr1",97839158,97839158,"G","A","Het","Dmis","Paternal_inheritance","DPYD","nonsynonymous SNV","DPYD:NM_000110:exon16:c.2017C>T:p.H673Y","dihydropyrimidine dehydrogenase","0.56272734 (80.6437%)","4.19E-09(89.7284%)","1p21.3","-","0.842:D","-","-","-","-"]
["A2947","Male","chr7",103151303,103151303,"A","G","Het","Dmis","Paternal_inheritance","RELN","nonsynonymous SNV","RELN:NM_005045:exon51:c.8269T>C:p.F2757L,RELN:NM_173054:exon51:c.8269T>C:p.F2757L","reelin","-1.431203386 (4.36444%)","1(0.0823%)","7q22.1","rs560897786","0.792:D",{"v":8.13e-06,"d":"8.13E-06"},0,"-","-"]
["A2947","Male","chr3",55003833,55003833,"T","C","Het","Dmis","Paternal_inheritance","CACNA2D3","nonsynonymous SNV","CACNA2D3:NM_018398:exon29:c.2518T>C:p.S840P","calcium voltage-gated channel auxiliary subunit alpha2delta 3","-1.223659583 (6.34406%)","0.998032255(6.8642%)","3p14.3","-","0.728:D","-","-","-","-"]
["A2968","Male","chr7",82581622,82581622,"A","T","Het","Dmis","Paternal_inheritance","PCLO","nonsynonymous SNV","PCLO:NM_014510:exon5:c.8647T>A:p.W2883R,PCLO:NM_033026:exon5:c.8647T>A:p.W2883R","piccolo presynaptic cytomatrix protein","-2.152098952 (1.61496%)","1(0.2853%)","7q21.11","-","0.771:D","-","-","-","-"]
["A2971","Male","chr14",75473404,75473404,"A","G","Het","Dmis","Paternal_inheritance","EIF2B2","nonsynonymous SNV","EIF2B2:NM_014239:exon6:c.818A>G:p.K273R","eukaryotic translation initiation factor 2B subunit beta","-0.382760448 (27.1938%)","0.000428256(67.4897%)","14q24.3","rs113994016","0.981:D",{"v":1.22E-5,"d":"1.22E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2980","Male","chr12",13906510,13906510,"C","T","Het","Dmis","Paternal_inheritance","GRIN2B","nonsynonymous SNV","GRIN2B:NM_000834:exon3:c.751G>A:p.G251S","glutamate ionotropic receptor NMDA type subunit 2B","-2.476366832 (1.09979%)","0.999994896(2.1948%)","12p13.1","-","0.958:D","-","-","-","-"]
["A2986","Male","chr11",101353863,101353863,"A","T","Het","Dmis","Paternal_inheritance","TRPC6","nonsynonymous SNV","TRPC6:NM_004621:exon5:c.1327T>A:p.F443I","transient receptor potential cation channel subfamily C member 6","-1.353000782 (5.01273%)","0.004564105(58.5460%)","11q22.1","-","0.967:D","-","-","-","-"]
["A2995","Male","chr5",167922438,167922438,"T","C","Het","Dmis","Paternal_inheritance","RARS","nonsynonymous SNV","RARS:NM_002887:exon6:c.698T>C:p.L233P","arginyl-tRNA synthetase","0.459160083 (76.4934%)","0.00053365(66.8148%)","5q34","rs1016518259","0.983:D",0,0,"-","-"]
["A3001","Male","chr2",210699712,210699712,"C","T","Het","Dmis","Paternal_inheritance","UNC80","nonsynonymous SNV","UNC80:NM_032504:exon18:c.3019C>T:p.R1007C,UNC80:NM_182587:exon18:c.3004C>T:p.R1002C","unc-80 homolog, NALCN activator","-","0.139839111(41.0590%)","2q34","-","0.779:D",{"v":6.57e-06,"d":"6.57E-06"},0,"-","-"]
["A3004","Male","chr5",176638008,176638008,"A","G","Het","Dmis","Paternal_inheritance","NSD1","nonsynonymous SNV","NSD1:NM_022455:exon5:c.2608A>G:p.R870G,NSD1:NM_172349:exon6:c.1801A>G:p.R601G","nuclear receptor binding SET domain protein 1","-2.678533507 (0.920352%)","0.999999999(0.5267%)","5q35.3","-","0.910:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
["A3013","Male","chr20",62038677,62038677,"G","A","Het","Dmis","Paternal_inheritance","KCNQ2","nonsynonymous SNV","KCNQ2:NM_004518:exon15:c.1855C>T:p.R619W,KCNQ2:NM_172106:exon16:c.1885C>T:p.R629W,KCNQ2:NM_172108:exon16:c.1846C>T:p.R616W,KCNQ2:NM_172107:exon17:c.1939C>T:p.R647W","potassium voltage-gated channel subfamily Q member 2","-1.249109188 (5.96782%)","0.999356099(5.3937%)","20q13.33","rs773450069","0.921:D",{"v":4.29e-06,"d":"4.29E-06"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A3016","Female","chr10",76780979,76780979,"G","C","Het","Dmis","Paternal_inheritance","KAT6B","nonsynonymous SNV","KAT6B:NM_001256468:exon15:c.2408G>C:p.R803T,KAT6B:NM_001256469:exon15:c.2081G>C:p.R694T,KAT6B:NM_012330:exon15:c.2957G>C:p.R986T","lysine acetyltransferase 6B","-3.45154577 (0.468859%)","0.999999923(1.0370%)","10q22.2","rs760628263","0.903:D",{"v":4.1e-06,"d":"4.10E-06"},{"v":5.8E-5,"d":"5.80E-05"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A3016","Female","chr4",56825868,56825868,"A","G","Het","Dmis","Paternal_inheritance","CEP135","nonsynonymous SNV","CEP135:NM_025009:exon6:c.635A>G:p.E212G","centrosomal protein 135kDa","-0.199553409 (36.9993%)","4.85E-17(97.7833%)","4q12","-","0.780:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A3016","Female","chr9",35090484,35090484,"C","T","Het","Dmis","Paternal_inheritance","PIGO","nonsynonymous SNV","PIGO:NM_032634:exon8:c.2833G>A:p.A945T,PIGO:NM_152850:exon9:c.1582G>A:p.A528T,PIGO:NM_001201484:exon10:c.1582G>A:p.A528T","phosphatidylinositol glycan anchor biosynthesis class O","-1.570059002 (3.56564%)","1.13E-06(82.3374%)","9p13.3","-","0.924:D","-","-","-","-"]
["A3016","Female","chr9",422057,422057,"G","T","Het","Dmis","Paternal_inheritance","DOCK8","nonsynonymous SNV","DOCK8:NM_001190458:exon31:c.3863G>T:p.R1288L,DOCK8:NM_001193536:exon32:c.3959G>T:p.R1320L,DOCK8:NM_203447:exon33:c.4163G>T:p.R1388L","dedicator of cytokinesis 8","-0.828277355 (12.254%)","0.000135434(70.9410%)","9p24.3","-","0.833:D","-","-","-","-"]
["A3025","Male","chr16",18805929,18805929,"T","G","Het","Dmis","Paternal_inheritance","ARL6IP1","nonsynonymous SNV","ARL6IP1:NM_001313858:exon5:c.398A>C:p.Y133S,ARL6IP1:NM_015161:exon5:c.485A>C:p.Y162S","ADP ribosylation factor like GTPase 6 interacting protein 1","-0.132835322 (41.0859%)","0.006675689(56.7517%)","16p12.3","-","0.844:D","-","-","-","-"]
["A3043","Female","chr16",89598474,89598474,"-","CTAC","Het","PTV","Paternal_inheritance","SPG7","frameshift insertion;potential splicing","SPG7:NM_003119:exon8:c.1150_1151insCTAC:p.G384Afs*12,SPG7:NM_199367:exon8:c.1150_1151insCTAC:p.G384Afs*12","-","-","1.38E-18(98.2826%)","16q24.3","-","-","-","-","-","-"]
["A3043","Female","chr7",99705024,99705025,"GA","-","Het","PTV","Paternal_inheritance","TAF6","frameshift deletion","TAF6:NM_001190415:exon15:c.1989_1990del:p.P664Sfs*109,TAF6:NM_005641:exon15:c.1878_1879del:p.P627Sfs*109,TAF6:NM_139315:exon15:c.1878_1879del:p.P627Sfs*109","TATA-box binding protein associated factor 6","-1.270984505 (5.73049%)","0.000674165(66.0521%)","7q22.1","-","-","-","-","-","-"]
["A3043","Female","chr2",50724852,50724852,"C","T","Het","Dmis","Paternal_inheritance","NRXN1","nonsynonymous SNV;potential splicing","NRXN1:NM_001330087:exon9:c.2387G>A:p.G796D,NRXN1:NM_001330096:exon9:c.2387G>A:p.G796D,NRXN1:NM_001330083:exon10:c.2432G>A:p.G811D,NRXN1:NM_001330084:exon10:c.2432G>A:p.G811D,NRXN1:NM_001330088:exon10:c.2417G>A:p.G806D,NRXN1:NM_001330095:exon12:c.2447G>A:p.G816D,NRXN1:NM_001330077:exon13:c.2474G>A:p.G825D,NRXN1:NM_001330082:exon13:c.2474G>A:p.G825D,NRXN1:NM_001330085:exon13:c.2471G>A:p.G824D,NRXN1:NM_001330094:exon13:c.2486G>A:p.G829D,NRXN1:NM_001330078:exon14:c.2498G>A:p.G833D,NRXN1:NM_001330086:exon14:c.2498G>A:p.G833D,NRXN1:NM_001330093:exon14:c.2495G>A:p.G832D,NRXN1:NM_004801:exon14:c.2498G>A:p.G833D,NRXN1:NM_001135659:exon15:c.2618G>A:p.G873D","-","-","0.999948738(3.2209%)","2p16.3","-","0.910:D","-","-","-","-"]
["A3046","Male","chr14",75473410,75473410,"C","A","Het","Dmis","Paternal_inheritance","EIF2B2","nonsynonymous SNV","EIF2B2:NM_014239:exon6:c.824C>A:p.S275Y","eukaryotic translation initiation factor 2B subunit beta","-0.382760448 (27.1938%)","0.000428256(67.4897%)","14q24.3","rs764250744","0.908:D",{"v":8.13e-06,"d":"8.13E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A3046","Male","chr3",4829784,4829784,"G","C","Het","Dmis","Paternal_inheritance","ITPR1","nonsynonymous SNV","ITPR1:NM_002222:exon48:c.6580G>C:p.D2194H,ITPR1:NM_001099952:exon49:c.6625G>C:p.D2209H,ITPR1:NM_001168272:exon51:c.6724G>C:p.D2242H","inositol 1,4,5-trisphosphate receptor type 1","-4.625568658 (0.138921%)","1(0.2689%)","3p26.1","-","0.919:D","-","-","-","-"]
["A3049","Male","chr17",3593806,3593806,"C","T","Het","Dmis","Paternal_inheritance","P2RX5","nonsynonymous SNV","P2RX5:NM_001204520:exon4:c.376G>A:p.G126S,P2RX5:NM_175080:exon4:c.376G>A:p.G126S,P2RX5:NM_001204519:exon5:c.448G>A:p.G150S,P2RX5:NM_002561:exon5:c.448G>A:p.G150S","purinergic receptor P2X 5","0.505084658 (78.392%)","1.83E-05(76.4390%)","17p13.2","rs142283229","0.943:D",{"v":6.93e-05,"d":"6.93E-05"},{"v":5.8E-5,"d":"5.80E-05"},{"v":9.7E-5,"d":"9.70E-05"},0]
["A3052","Male","chr8",18729527,18729527,"C","A","Het","PTV","Paternal_inheritance","PSD3","stopgain","PSD3:NM_015310:exon3:c.847G>T:p.G283X","pleckstrin and Sec7 domain containing 3","0.085515914 (56.3962%)","0.851705649(19.7970%)","8p22","-","0.254:T","-","-","-","-"]
["A3052","Male","chr1",110173616,110173616,"A","T","Het","Dmis","Paternal_inheritance","AMPD2","nonsynonymous SNV","AMPD2:NM_203404:exon16:c.2125A>T:p.N709Y,AMPD2:NM_001308170:exon17:c.2257A>T:p.N753Y,AMPD2:NM_001257361:exon18:c.2128A>T:p.N710Y,AMPD2:NM_004037:exon18:c.2482A>T:p.N828Y,AMPD2:NM_139156:exon18:c.2239A>T:p.N747Y,AMPD2:NM_001257360:exon19:c.2482A>T:p.N828Y","adenosine monophosphate deaminase 2","-1.791875715 (2.58162%)","0.008542497(55.4952%)","1p13.3","-","0.951:D","-","-","-","-"]
["A3064","Female","chr16",57787859,57787859,"C","T","Het","Dmis","Paternal_inheritance","KATNB1","nonsynonymous SNV","KATNB1:NM_005886:exon13:c.1180C>T:p.R394W","katanin p80 (WD repeat containing) subunit B 1","-0.969951674 (9.52767%)","0.496734037(30.0027%)","16q21","rs782585634","0.802:D",{"v":1.64e-05,"d":"1.64E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A3064","Female","chr9",133942571,133942571,"C","T","Het","PTV","Paternal_inheritance","LAMC3","stopgain","LAMC3:NM_006059:exon14:c.2572C>T:p.R858X","laminin subunit gamma 3","2.420983809 (99.016%)","9.82E-11(92.8999%)","9q34.12","rs768306978","0.324:T",{"v":4.07E-6,"d":"4.07E-06"},0,"-","-"]
["A3064","Female","chr22",40757633,40757633,"C","T","Het","Dmis","Paternal_inheritance","ADSL","nonsynonymous SNV","ADSL:NM_000026:exon9:c.1004C>T:p.A335V,ADSL:NM_001123378:exon9:c.1004C>T:p.A335V,ADSL:NM_001317923:exon9:c.812C>T:p.A271V","adenylosuccinate lyase","-0.310596629 (30.8347%)","0.000212575(69.5967%)","22q13.1","-","0.900:D","-","-","-","-"]
["A3064","Female","chr17",18145571,18145571,"C","-","Het","PTV","Paternal_inheritance","LLGL1","frameshift deletion","LLGL1:NM_004140:exon20:c.2974delC:p.P992Qfs*42","lethal giant larvae homolog 1, scribble cell polarity complex component","-1.695070442 (2.9405%)","0.977463207(12.0988%)","17p11.2","-","-","-","-","-","-"]
["A3073","Male","chr3",122002828,122002828,"C","T","Het","Dmis","Paternal_inheritance","CASR","nonsynonymous SNV","CASR:NM_000388:exon7:c.2027C>T:p.T676M,CASR:NM_001178065:exon7:c.2057C>T:p.T686M","calcium sensing receptor","-1.640642576 (3.19518%)","0.366508674(33.6955%)","3q21.1","rs768204447","0.903:D",{"v":1.22E-5,"d":"1.22E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A3076","Male","chr12",106890645,106890645,"G","A","Het","Dmis","Paternal_inheritance","POLR3B","nonsynonymous SNV","POLR3B:NM_001160708:exon25:c.2759G>A:p.R920H,POLR3B:NM_018082:exon25:c.2933G>A:p.R978H","polymerase (RNA) III subunit B","-1.672979324 (3.05047%)","2.73E-09(90.1893%)","12q23.3","rs117293015","0.851:D",1E-4,{"v":0,"d":"0.00E+00"},{"v":6.46e-05,"d":"6.46E-05"},0]
["A3098","Male","chr9",138683645,138683645,"G","A","Het","Dmis","Paternal_inheritance","KCNT1","nonsynonymous SNV","KCNT1:NM_001272003:exon30:c.3433G>A:p.E1145K,KCNT1:NM_020822:exon30:c.3505G>A:p.E1169K","potassium sodium-activated channel subfamily T member 1","-1.732734355 (2.8363%)","0.005348738(57.7503%)","9q34.3","rs768746178","0.852:D",{"v":3.66e-05,"d":"3.66E-05"},{"v":0,"d":"0.00E+00"},{"v":9.72e-05,"d":"9.72E-05"},0]
["A3098","Male","chr14",53522452,53522452,"G","A","Het","Dmis","Paternal_inheritance","DDHD1","nonsynonymous SNV","DDHD1:NM_001160148:exon10:c.2171C>T:p.P724L,DDHD1:NM_030637:exon10:c.2171C>T:p.P724L,DDHD1:NM_001160147:exon11:c.2192C>T:p.P731L","DDHD domain containing 1","-0.743446591 (14.3262%)","0.968458214(13.1303%)","14q22.1","-","0.840:D","-","-","-","-"]
["A3110","Male","chr10",89692826,89692826,"T","G","Het","Dmis","Paternal_inheritance","PTEN","nonsynonymous SNV","PTEN:NM_000314:exon5:c.310T>G:p.F104V,PTEN:NM_001304717:exon6:c.829T>G:p.F277V","phosphatase and tensin homolog","-0.161420196 (39.222%)","0.975506866(12.3237%)","10q23.31","-","0.986:D","-","-","-","-"]
["A3110","Male","chr18",67759357,67759357,"G","A","Het","Dmis","Paternal_inheritance","RTTN","nonsynonymous SNV","RTTN:NM_001318520:exon29:c.1396C>T:p.R466W,RTTN:NM_173630:exon30:c.4132C>T:p.R1378W","rotatin","-1.326317594 (5.23269%)","2.40E-13(95.7586%)","18q22.2","rs367785889","0.885:D",{"v":3.66e-05,"d":"3.66E-05"},{"v":5.8E-5,"d":"5.80E-05"},{"v":3.24e-05,"d":"3.24E-05"},0]
["A3132","Male","chr21",47958420,47958420,"G","A","Het","Dmis","Paternal_inheritance","DIP2A","nonsynonymous SNV","DIP2A:NM_001146115:exon15:c.1697G>A:p.R566Q,DIP2A:NM_001146116:exon16:c.1814G>A:p.R605Q,DIP2A:NM_015151:exon16:c.1826G>A:p.R609Q,DIP2A:NM_206889:exon16:c.1826G>A:p.R609Q,DIP2A:NM_206890:exon16:c.1826G>A:p.R609Q,DIP2A:NM_206891:exon16:c.1826G>A:p.R609Q","disco interacting protein 2 homolog A","-1.954202731 (2.11855%)","0.726099074(23.8134%)","21q22.3","rs200751416","0.915:D",{"v":6.32e-06,"d":"6.32E-06"},0,"-","-"]
["A3132","Male","chr9",426914,426914,"T","C","Het","Dmis","Paternal_inheritance","DOCK8","nonsynonymous SNV","DOCK8:NM_001190458:exon32:c.3971T>C:p.L1324S,DOCK8:NM_001193536:exon33:c.4067T>C:p.L1356S,DOCK8:NM_203447:exon34:c.4271T>C:p.L1424S","dedicator of cytokinesis 8","-0.828277355 (12.254%)","0.000135434(70.9410%)","9p24.3","-","0.723:D","-","-","-","-"]
["A3135","Male","chr18",44589731,44589731,"G","A","Het","Dmis","Paternal_inheritance","KATNAL2","nonsynonymous SNV;potential splicing","KATNAL2:NM_031303:exon7:c.509G>A:p.R170Q","-","-","0.000125862(71.1440%)","18q21.1","-","0.855:D",{"v":4.08e-06,"d":"4.08E-06"},0,"-","-"]
["A3138","Male","chr6",44274746,44274746,"G","A","Het","Dmis","Paternal_inheritance","AARS2","nonsynonymous SNV","AARS2:NM_020745:exon7:c.1063C>T:p.R355C","alanyl-tRNA synthetase 2, mitochondrial","0.674883651 (84.0704%)","1.65E-07(85.4376%)","6p21.1","rs762132107","0.989:D",{"v":1.63E-5,"d":"1.63E-05"},0,"-","-"]
["A3151","Male","chr6",88228349,88228349,"T","C","Het","Dmis","Paternal_inheritance","RARS2","nonsynonymous SNV;potential splicing","RARS2:NM_001350509:exon14:c.889A>G:p.S297G,RARS2:NM_001318785:exon15:c.889A>G:p.S297G,RARS2:NM_001350505:exon16:c.1414A>G:p.S472G,RARS2:NM_001350506:exon16:c.889A>G:p.S297G,RARS2:NM_001350510:exon16:c.889A>G:p.S297G,RARS2:NM_020320:exon16:c.1414A>G:p.S472G,RARS2:NM_001350507:exon17:c.889A>G:p.S297G,RARS2:NM_001350508:exon17:c.889A>G:p.S297G,RARS2:NM_001350511:exon17:c.889A>G:p.S297G","-","-","3.49E-06(80.1920%)","6q15","-","0.916:D","-","-","-","-"]
["A3154","Male","chr3",4726855,4726855,"G","A","Het","Dmis","Paternal_inheritance","ITPR1","nonsynonymous SNV","ITPR1:NM_001168272:exon29:c.3622G>A:p.V1208M,ITPR1:NM_002222:exon29:c.3595G>A:p.V1199M,ITPR1:NM_001099952:exon30:c.3640G>A:p.V1214M","inositol 1,4,5-trisphosphate receptor type 1","-4.625568658 (0.138921%)","1(0.2689%)","3p26.1","rs753688238","0.902:D",{"v":3.4E-5,"d":"3.40E-05"},{"v":5.89e-05,"d":"5.89E-05"},{"v":6.46e-05,"d":"6.46E-05"},0.0006]
["A3173","Female","chr2",206165391,206165391,"C","T","Het","PTV","Paternal_inheritance","PARD3B","stopgain","PARD3B:NM_152526:exon16:c.2137C>T:p.R713X,PARD3B:NM_001302769:exon17:c.2323C>T:p.R775X,PARD3B:NM_205863:exon17:c.2323C>T:p.R775X","par-3 family cell polarity regulator beta","0.394809114 (73.7902%)","8.65E-08(86.2387%)","2q33.3","-","0.526:T","-","-","-","-"]
["A3180","Male","chr7",103138294,103138294,"C","T","Het","Dmis","Paternal_inheritance","RELN","nonsynonymous SNV","RELN:NM_005045:exon55:c.8923G>A:p.V2975M,RELN:NM_173054:exon55:c.8923G>A:p.V2975M","reelin","-1.431203386 (4.36444%)","1(0.0823%)","7q22.1","rs369856463","0.780:D",{"v":8.14E-6,"d":"8.14E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A3193","Female","chr21",41719644,41719644,"C","A","Het","Dmis","Paternal_inheritance","DSCAM","nonsynonymous SNV","DSCAM:NM_001271534:exon6:c.1163G>T:p.R388L,DSCAM:NM_001389:exon6:c.1163G>T:p.R388L","Down syndrome cell adhesion molecule","-4.387829485 (0.185228%)","1(0.4225%)","21q22.2","rs369481071","0.940:D",{"v":1.63E-5,"d":"1.63E-05"},{"v":5.8E-5,"d":"5.80E-05"},{"v":3.23e-05,"d":"3.23E-05"},0.0006]
["A3197","Male","chr8",133150232,133150232,"A","G","Het","Dmis","Paternal_inheritance","KCNQ3","nonsynonymous SNV","KCNQ3:NM_001204824:exon12:c.1240T>C:p.F414L,KCNQ3:NM_004519:exon12:c.1600T>C:p.F534L","potassium voltage-gated channel subfamily Q member 3","-1.134759291 (7.23547%)","0.985604294(10.7929%)","8q24.22","-","0.930:D","-","-","-","-"]
["A3204","Male","chr10",61894075,61894075,"C","T","Het","Dmis","Paternal_inheritance","ANK3","nonsynonymous SNV","ANK3:NM_001149:exon3:c.197G>A:p.R66Q,ANK3:NM_001320874:exon25:c.2795G>A:p.R932Q,ANK3:NM_020987:exon25:c.2795G>A:p.R932Q,ANK3:NM_001204403:exon26:c.2777G>A:p.R926Q,ANK3:NM_001204404:exon26:c.2798G>A:p.R933Q","ankyrin 3, node of Ranvier (ankyrin G)","-5.215169063 (0.0752489%)","1(0.1481%)","10q21.2","rs749695771","0.852:D",{"v":8.15e-06,"d":"8.15E-06"},0,"-","-"]
["A3213","Male","chr11",118353185,118353185,"C","A","Het","Dmis","Paternal_inheritance","KMT2A","nonsynonymous SNV","KMT2A:NM_001197104:exon8:c.4061C>A:p.P1354H,KMT2A:NM_005933:exon8:c.4061C>A:p.P1354H","lysine methyltransferase 2A","-4.13791644 (0.231535%)","1(0.0055%)","11q23.3","rs201813757","0.769:D",{"v":8.13e-06,"d":"8.13E-06"},1E-4,"-","-"]
["A3216","Male","chr21",47970564,47970564,"C","T","Het","Dmis","Paternal_inheritance","DIP2A","nonsynonymous SNV","DIP2A:NM_001146116:exon23:c.2734C>T:p.R912C,DIP2A:NM_015151:exon23:c.2746C>T:p.R916C","disco interacting protein 2 homolog A","-1.954202731 (2.11855%)","0.726099074(23.8134%)","21q22.3","rs368888478","0.720:D",{"v":6.1e-05,"d":"6.10E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A3219","Male","chr6",152832168,152832168,"C","T","Het","PTV","Paternal_inheritance","SYNE1","stopgain","SYNE1:NM_033071:exon7:c.401G>A:p.W134X,SYNE1:NM_182961:exon7:c.380G>A:p.W127X","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.2","-","0.765:D","-","-","-","-"]
["A3225","Female","chr15",49033860,49033866,"GTAGCAA","-","Het","PTV","Paternal_inheritance","CEP152","frameshift deletion","CEP152:NM_014985:exon25:c.3857_3863del:p.L1286Qfs*24,CEP152:NM_001194998:exon26:c.4025_4031del:p.L1342Qfs*24","centrosomal protein 152kDa","0.67913999 (84.1804%)","4.42E-21(98.8477%)","15q21.1","-","-","-","-","-","-"]
["A3231","Female","chr2",236653471,236653471,"G","T","Het","Dmis","Paternal_inheritance","AGAP1","nonsynonymous SNV","AGAP1:NM_001037131:exon5:c.526G>T:p.V176L,AGAP1:NM_001244888:exon5:c.526G>T:p.V176L,AGAP1:NM_014914:exon5:c.526G>T:p.V176L","ArfGAP with GTPase domain, ankyrin repeat and PH domain 1","-0.949823197 (9.87497%)","0.999356436(5.3882%)","2q37.2","-","0.887:D","-","-","-","-"]
["A3234","Female","chr6",52344539,52344539,"C","T","Het","PTV","Paternal_inheritance","EFHC1","stopgain","EFHC1:NM_018100:exon9:c.1594C>T:p.Q532X,EFHC1:NM_001172420:exon10:c.1537C>T:p.Q513X","EF-hand domain (C-terminal) containing 1","0.83608509 (87.9775%)","5.06E-12(94.6063%)","6p12.2","rs745458555","0.476:T",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A3234","Female","chr1",197060039,197060039,"G","A","Het","Dmis","Paternal_inheritance","ASPM","nonsynonymous SNV","ASPM:NM_001206846:exon22:c.4822C>T:p.R1608C,ASPM:NM_018136:exon23:c.9577C>T:p.R3193C","abnormal spindle microtubule assembly","0.345649059 (71.4459%)","6.16E-26(99.3690%)","1q31.3","rs140679756","0.776:D",{"v":2.85e-05,"d":"2.85E-05"},{"v":0,"d":"0.00E+00"},{"v":9.71e-05,"d":"9.71E-05"},0]
["A3238","Male","chr4",56825868,56825868,"A","G","Het","Dmis","Paternal_inheritance","CEP135","nonsynonymous SNV","CEP135:NM_025009:exon6:c.635A>G:p.E212G","centrosomal protein 135kDa","-0.199553409 (36.9993%)","4.85E-17(97.7833%)","4q12","-","0.780:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A3241","Male","chr7",82585003,82585003,"G","A","Het","Dmis","Paternal_inheritance","PCLO","nonsynonymous SNV","PCLO:NM_014510:exon5:c.5266C>T:p.R1756C,PCLO:NM_033026:exon5:c.5266C>T:p.R1756C","piccolo presynaptic cytomatrix protein","-2.152098952 (1.61496%)","1(0.2853%)","7q21.11","-","0.808:D",0,0,"-","-"]
["A3250","Male","chr10",104854187,104854187,"T","G","Het","Dmis","Paternal_inheritance","NT5C2","nonsynonymous SNV","NT5C2:NM_001351181:exon10:c.266A>C:p.Q89P,NT5C2:NM_001351174:exon11:c.752A>C:p.Q251P,NT5C2:NM_001351183:exon11:c.266A>C:p.Q89P,NT5C2:NM_001351191:exon11:c.266A>C:p.Q89P,NT5C2:NM_001134373:exon12:c.839A>C:p.Q280P,NT5C2:NM_001351176:exon12:c.266A>C:p.Q89P,NT5C2:NM_001351180:exon12:c.266A>C:p.Q89P,NT5C2:NM_001351192:exon12:c.266A>C:p.Q89P,NT5C2:NM_001351194:exon12:c.125A>C:p.Q42P,NT5C2:NM_001351169:exon13:c.839A>C:p.Q280P,NT5C2:NM_001351170:exon13:c.863A>C:p.Q288P,NT5C2:NM_001351173:exon13:c.863A>C:p.Q288P,NT5C2:NM_001351177:exon13:c.266A>C:p.Q89P,NT5C2:NM_001351184:exon13:c.266A>C:p.Q89P,NT5C2:NM_001351185:exon13:c.266A>C:p.Q89P,NT5C2:NM_001351188:exon13:c.266A>C:p.Q89P,NT5C2:NM_001351189:exon13:c.266A>C:p.Q89P,NT5C2:NM_001351190:exon13:c.266A>C:p.Q89P,NT5C2:NM_001351193:exon13:c.266A>C:p.Q89P,NT5C2:NM_012229:exon13:c.839A>C:p.Q280P,NT5C2:NM_001351171:exon14:c.863A>C:p.Q288P,NT5C2:NM_001351172:exon14:c.863A>C:p.Q288P,NT5C2:NM_001351175:exon14:c.746A>C:p.Q249P,NT5C2:NM_001351179:exon14:c.266A>C:p.Q89P,NT5C2:NM_001351182:exon14:c.266A>C:p.Q89P,NT5C2:NM_001351195:exon14:c.125A>C:p.Q42P,NT5C2:NM_001351197:exon14:c.266A>C:p.Q89P,NT5C2:NM_001351178:exon15:c.266A>C:p.Q89P,NT5C2:NM_001351186:exon15:c.266A>C:p.Q89P,NT5C2:NM_001351196:exon15:c.125A>C:p.Q42P,NT5C2:NM_001351187:exon16:c.266A>C:p.Q89P","5'-nucleotidase, cytosolic II","-0.552085504 (19.9583%)","0.052197863(46.7051%)","10q24.32","rs199588287","0.852:D","-","-","-","-"]
["A3261","Male","chr1",8555149,8555149,"C","G","Het","Dmis","Paternal_inheritance","RERE","nonsynonymous SNV","RERE:NM_001042681:exon10:c.1078G>C:p.D360H,RERE:NM_012102:exon11:c.1078G>C:p.D360H","arginine-glutamic acid dipeptide (RE) repeats","-2.692017503 (0.897198%)","0.999995655(2.1509%)","1p36.23","-","0.790:D","-","-","-","-"]
["A3258","Female","chr6",152629766,152629766,"T","C","Het","Dmis","Paternal_inheritance","SYNE1","nonsynonymous SNV;potential splicing","SYNE1:NM_182961:exon91:c.17204A>G:p.E5735G","-","-","3.75E-27(99.4458%)","6q25.2","rs768171598","0.717:D",{"v":4.86e-06,"d":"4.86E-06"},0,"-","-"]
["A3267","Male","chr12",58021460,58021460,"C","A","Het","Dmis","Paternal_inheritance","B4GALNT1","nonsynonymous SNV","B4GALNT1:NM_001276468:exon9:c.1160G>T:p.R387L,B4GALNT1:NM_001478:exon10:c.1325G>T:p.R442L","beta-1,4-N-acetyl-galactosaminyltransferase 1","-0.513035719 (21.2376%)","0.056073773(46.3045%)","12q13.3","-","0.959:D","-","-","-","-"]
["A3274","Male","chr21",38845049,38845049,"C","A","Het","Dmis","Paternal_inheritance","DYRK1A","nonsynonymous SNV","DYRK1A:NM_130436:exon2:c.74C>A:p.A25D,DYRK1A:NM_130438:exon2:c.74C>A:p.A25D,DYRK1A:NM_001347721:exon3:c.74C>A:p.A25D,DYRK1A:NM_001347722:exon3:c.74C>A:p.A25D,DYRK1A:NM_001396:exon3:c.74C>A:p.A25D,DYRK1A:NM_101395:exon4:c.74C>A:p.A25D","dual specificity tyrosine phosphorylation regulated kinase 1A","-0.840447561 (11.9819%)","0.999584542(4.9108%)","21q22.13","-","0.730:D","-","-","-","-"]
["A3274","Male","chr1",220197674,220197674,"T","C","Het","Dmis","Paternal_inheritance","EPRS","nonsynonymous SNV","EPRS:NM_004446:exon8:c.875A>G:p.D292G","glutamyl-prolyl-tRNA synthetase","-1.756786213 (2.7379%)","3.85E-07(84.0713%)","1q41","-","0.974:D","-","-","-","-"]
["A3274","Male","chr10",61831253,61831253,"C","G","Het","Dmis","Paternal_inheritance","ANK3","nonsynonymous SNV","ANK3:NM_020987:exon37:c.9386G>C:p.R3129T","ankyrin 3, node of Ranvier (ankyrin G)","-5.215169063 (0.0752489%)","1(0.1481%)","10q21.2","-","0.728:D","-","-","-","-"]
["A3278","Male","chr17",3379665,3379665,"G","T","Het","Dmis","Paternal_inheritance","ASPA","nonsynonymous SNV","ASPA:NM_000049:exon1:c.212G>T:p.R71L,ASPA:NM_001128085:exon2:c.212G>T:p.R71L","aspartoacylase","0.491657364 (77.7553%)","0.014880157(53.1578%)","17p13.2","-","0.998:D","-","-","-","-"]
["A3290","Male","chr9",140000710,140000710,"A","G","Het","Dmis","Paternal_inheritance","MAN1B1","nonsynonymous SNV","MAN1B1:NM_016219:exon9:c.1388A>G:p.D463G","mannosidase alpha class 1B member 1","-0.155810972 (39.5751%)","2.63E-06(80.6804%)","9q34.3","-","0.909:D","-","-","-","-"]
["A3299","Male","chr3",9517737,9517737,"C","T","Het","PTV","Paternal_inheritance","SETD5","stopgain","SETD5:NM_001080517:exon23:c.4291C>T:p.Q1431X,SETD5:NM_001292043:exon25:c.3997C>T:p.Q1333X,SETD5:NM_001349451:exon26:c.3997C>T:p.Q1333X","SET domain containing 5","-1.538517197 (3.74508%)","0.999999564(1.4211%)","3p25.3","-","0.744:D","-","-","-","-"]
["A3309","Male","chr4",56840986,56840986,"C","T","Het","Dmis","Paternal_inheritance","CEP135","nonsynonymous SNV","CEP135:NM_025009:exon11:c.1324C>T:p.R442C","centrosomal protein 135kDa","-0.199553409 (36.9993%)","4.85E-17(97.7833%)","4q12","rs747722436","0.847:D",{"v":2.03e-05,"d":"2.03E-05"},1E-4,"-","-"]
["A3318","Male","chr17",29562940,29562940,"A","G","Het","Dmis","Paternal_inheritance","NF1","nonsynonymous SNV","NF1:NM_000267:exon29:c.3875A>G:p.Y1292C,NF1:NM_001042492:exon29:c.3875A>G:p.Y1292C","neurofibromin 1","-4.245138737 (0.202593%)","0.999999846(1.1523%)","17q11.2","rs1060500243","0.806:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A3330","Female","chrX",122387214,122387214,"T","A","Het","Dmis","Paternal_inheritance","GRIA3","nonsynonymous SNV","GRIA3:NM_000828:exon3:c.329T>A:p.M110K,GRIA3:NM_007325:exon3:c.329T>A:p.M110K","glutamate ionotropic receptor AMPA type subunit 3","-1.36189817 (4.91433%)","0.998653778(6.2771%)","Xq25","-","0.972:D","-","-","-","-"]
["A3350","Female","chr2",1906992,1906992,"C","T","Het","Dmis","Paternal_inheritance","MYT1L","nonsynonymous SNV","MYT1L:NM_001303052:exon14:c.1892G>A:p.R631H,MYT1L:NM_001329845:exon14:c.1892G>A:p.R631H,MYT1L:NM_001329846:exon14:c.1886G>A:p.R629H,MYT1L:NM_001329847:exon14:c.1886G>A:p.R629H,MYT1L:NM_001329848:exon14:c.1886G>A:p.R629H,MYT1L:NM_001329849:exon14:c.1886G>A:p.R629H,MYT1L:NM_001329851:exon14:c.1892G>A:p.R631H,MYT1L:NM_001329852:exon14:c.1886G>A:p.R629H,MYT1L:NM_015025:exon14:c.1886G>A:p.R629H,MYT1L:NM_001329844:exon15:c.1892G>A:p.R631H","myelin transcription factor 1 like","-1.831710685 (2.47743%)","0.999963989(3.0562%)","2p25.3","-","0.898:D","-","-","-","-"]
["A3355","Male","chr16",15788079,15788079,"T","A","Het","Dmis","Paternal_inheritance","NDE1","nonsynonymous SNV","NDE1:NM_017668:exon7:c.761T>A:p.L254H,NDE1:NM_001143979:exon8:c.761T>A:p.L254H","nudE neurodevelopment protein 1","-0.467111291 (23.084%)","0.047109548(47.2977%)","16p13.11","-","0.962:D","-","-","-","-"]
["A3361","Female","chr2",74077528,74077528,"A","G","Het","Dmis","Paternal_inheritance","STAMBP","nonsynonymous SNV","STAMBP:NM_201647:exon7:c.893A>G:p.H298R,STAMBP:NM_213622:exon7:c.893A>G:p.H298R,STAMBP:NM_006463:exon8:c.893A>G:p.H298R","STAM binding protein","0.053665262 (54.1561%)","0.001430273(63.1770%)","2p13.1","rs377367727","0.890:D",{"v":8.17e-06,"d":"8.17E-06"},{"v":5.83e-05,"d":"5.83E-05"},"-","-"]
["A3367","Male","chr15",49076277,49076277,"A","G","Het","Dmis","Paternal_inheritance","CEP152","nonsynonymous SNV","CEP152:NM_001194998:exon10:c.1214T>C:p.L405P,CEP152:NM_014985:exon10:c.1214T>C:p.L405P","centrosomal protein 152kDa","0.67913999 (84.1804%)","4.42E-21(98.8477%)","15q21.1","-","0.853:D","-","-","-","-"]
["A3370","Male","chr8",126075827,126075827,"G","A","Het","Dmis","Paternal_inheritance","WASHC5","nonsynonymous SNV","WASHC5:NM_001330609:exon10:c.901C>T:p.R301W,WASHC5:NM_014846:exon11:c.1345C>T:p.R449W","-","-","-","8q24.13","-","0.959:D",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
["A3382","Male","chr10",76790413,76790413,"A","G","Het","Dmis","Paternal_inheritance","KAT6B","nonsynonymous SNV","KAT6B:NM_001256468:exon18:c.5282A>G:p.Y1761C,KAT6B:NM_001256469:exon18:c.4955A>G:p.Y1652C,KAT6B:NM_012330:exon18:c.5831A>G:p.Y1944C","lysine acetyltransferase 6B","-3.45154577 (0.468859%)","0.999999923(1.0370%)","10q22.2","rs143966521","0.894:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A3385","Male","chr3",123010115,123010115,"G","A","Het","Dmis","Paternal_inheritance","ADCY5","nonsynonymous SNV","ADCY5:NM_001199642:exon18:c.2122C>T:p.R708C,ADCY5:NM_183357:exon18:c.3172C>T:p.R1058C","adenylate cyclase 5","-2.187243441 (1.5455%)","0.989940592(9.9150%)","3q21.1","rs759519156","0.909:D",{"v":1.63E-5,"d":"1.63E-05"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A3394","Male","chr15",44867114,44867117,"ACAG","-","Het","PTV","Paternal_inheritance","SPG11","frameshift deletion","SPG11:NM_025137:exon31:c.5989_5992del:p.L1997Mfs*59","spastic paraplegia 11 (autosomal recessive)","-1.551577083 (3.66404%)","2.91E-22(99.0069%)","15q21.1","rs312262776","-",{"v":2.85e-05,"d":"2.85E-05"},0,"-","-"]
["A3400","Male","chr5",170343584,170343584,"C","T","Het","Dmis","Paternal_inheritance","RANBP17","nonsynonymous SNV","RANBP17:NM_022897:exon9:c.950C>T:p.P317L","RAN binding protein 17","0.062242183 (54.758%)","8.61E-36(99.7970%)","5q35.1","-","0.744:D","-","-","-","-"]
["A3412","Female","chr1",41990451,41990451,"G","A","Het","Dmis","Paternal_inheritance","HIVEP3","nonsynonymous SNV","HIVEP3:NM_001127714:exon5:c.5338C>T:p.R1780W,HIVEP3:NM_024503:exon6:c.5338C>T:p.R1780W","human immunodeficiency virus type I enhancer binding protein 3","0.715684558 (85.2628%)","0.030810602(49.4486%)","1p34.2","-","0.911:D","-","-","-","-"]
["A3415","Male","chr17",15950334,15950334,"T","C","Het","Dmis","Paternal_inheritance","NCOR1","nonsynonymous SNV","NCOR1:NM_001190440:exon41:c.6301A>G:p.M2101V,NCOR1:NM_006311:exon42:c.6610A>G:p.M2204V","nuclear receptor corepressor 1","-3.079715329 (0.648298%)","0.999999999(0.5158%)","17p12","-","0.856:D","-","-","-","-"]
["A3415","Male","chr1",114438882,114438882,"A","G","Het","Dmis","Paternal_inheritance","AP4B1","nonsynonymous SNV","AP4B1:NM_001308312:exon5:c.1004T>C:p.I335T,AP4B1:NM_001253852:exon8:c.1508T>C:p.I503T,AP4B1:NM_001253853:exon9:c.1211T>C:p.I404T,AP4B1:NM_006594:exon9:c.1508T>C:p.I503T","adaptor related protein complex 4 beta 1 subunit","-0.343874938 (29.0634%)","2.69E-08(87.7421%)","1p13.2","rs145551290","0.845:D",{"v":1.63E-5,"d":"1.63E-05"},{"v":0,"d":"0.00E+00"},{"v":3.23e-05,"d":"3.23E-05"},0]
["A3418","Male","chr7",103143670,103143670,"A","G","Het","Dmis","Paternal_inheritance","RELN","nonsynonymous SNV","RELN:NM_005045:exon52:c.8282T>C:p.V2761A,RELN:NM_173054:exon52:c.8282T>C:p.V2761A","reelin","-1.431203386 (4.36444%)","1(0.0823%)","7q22.1","-","0.778:D","-","-","-","-"]
["A3421","Male","chr7",103290771,103290771,"C","T","Het","Dmis","Paternal_inheritance","RELN","nonsynonymous SNV","RELN:NM_005045:exon16:c.1952G>A:p.R651H,RELN:NM_173054:exon16:c.1952G>A:p.R651H","reelin","-1.431203386 (4.36444%)","1(0.0823%)","7q22.1","rs144078760","0.842:D",{"v":1.63E-5,"d":"1.63E-05"},{"v":5.81e-05,"d":"5.81E-05"},"-","-"]
["A3424","Male","chr17",29528127,29528127,"T","C","Het","Dmis","Paternal_inheritance","NF1","nonsynonymous SNV","NF1:NM_000267:exon10:c.1135T>C:p.C379R,NF1:NM_001042492:exon10:c.1135T>C:p.C379R,NF1:NM_001128147:exon10:c.1135T>C:p.C379R","neurofibromin 1","-4.245138737 (0.202593%)","0.999999846(1.1523%)","17q11.2","rs1060500281","0.995:D","-","-","-","-"]
["A3427","Male","chr17",49059959,49059959,"C","T","Het","Dmis","Paternal_inheritance","SPAG9","nonsynonymous SNV","SPAG9:NM_001251971:exon21:c.2692G>A:p.V898M,SPAG9:NM_003971:exon24:c.3121G>A:p.V1041M,SPAG9:NM_001130527:exon25:c.3133G>A:p.V1045M,SPAG9:NM_001130528:exon25:c.3163G>A:p.V1055M","sperm associated antigen 9","-1.200392043 (6.59296%)","0.999998938(1.6680%)","17q21.33","rs962783722","0.732:D","-","-","-","-"]
["A3427","Male","chr14",102471380,102471380,"C","G","Het","Dmis","Paternal_inheritance","DYNC1H1","nonsynonymous SNV;potential splicing","DYNC1H1:NM_001376:exon26:c.5240C>G:p.A1747G","-","-","1(0.0055%)","14q32.31","rs757314893","0.606:T",{"v":8.12e-06,"d":"8.12E-06"},1E-4,"-","-"]
["A3435","Male","chr17",73518027,73518027,"-","CGGGAGC","Het","PTV","Paternal_inheritance","TSEN54","frameshift insertion","TSEN54:NM_207346:exon8:c.865_866insCGGGAGC:p.K293Sfs*2","tRNA splicing endonuclease subunit 54","1.744697053 (97.3489%)","1.76E-05(76.5706%)","17q25.1","-","-","-","-","-","-"]
["A3450","Male","chr22",50659018,50659018,"G","T","Het","PTV","Paternal_inheritance","TUBGCP6","stopgain","TUBGCP6:NM_020461:exon16:c.3770C>A:p.S1257X","tubulin gamma complex associated protein 6","0.353636398 (71.8338%)","5.09E-19(98.3978%)","22q13.33","-","0.336:T","-","-","-","-"]
["A3453","Male","chr17",29562940,29562940,"A","G","Het","Dmis","Paternal_inheritance","NF1","nonsynonymous SNV","NF1:NM_000267:exon29:c.3875A>G:p.Y1292C,NF1:NM_001042492:exon29:c.3875A>G:p.Y1292C","neurofibromin 1","-4.245138737 (0.202593%)","0.999999846(1.1523%)","17q11.2","rs1060500243","0.806:D",{"v":4.06e-06,"d":"4.06E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A3453","Male","chr12",58121359,58121359,"G","T","Het","Dmis","Paternal_inheritance","AGAP2","nonsynonymous SNV","AGAP2:NM_014770:exon16:c.1796C>A:p.T599K,AGAP2:NM_001122772:exon17:c.2864C>A:p.T955K","ArfGAP with GTPase domain, ankyrin repeat and PH domain 2","-0.672682663 (16.2248%)","0.999218902(5.5912%)","12q14.1","rs375810092","0.760:D",{"v":4.4e-06,"d":"4.40E-06"},0,"-","-"]
["A3457","Male","chr22",50659697,50659698,"CT","-","Het","PTV","Paternal_inheritance","TUBGCP6","frameshift deletion","TUBGCP6:NM_020461:exon16:c.3090_3091del:p.G1032Wfs*9","tubulin gamma complex associated protein 6","0.353636398 (71.8338%)","5.09E-19(98.3978%)","22q13.33","rs796321813","-",{"v":2.84e-05,"d":"2.84E-05"},0,"-","-"]
["A3460","Female","chr17",76503643,76503643,"C","T","Het","Dmis","Paternal_inheritance","DNAH17","nonsynonymous SNV","DNAH17:NM_173628:exon28:c.4481G>A:p.R1494Q","dynein axonemal heavy chain 17","-","-","17q25.3","rs760905784","0.753:D",{"v":2.03e-05,"d":"2.03E-05"},0,"-","-"]
["A3467","Male","chr19",9453298,9453301,"ATTA","-","Het","PTV","Paternal_inheritance","ZNF559","frameshift deletion","ZNF559:NM_001202406:exon6:c.1363_1366del:p.N456Pfs*12,ZNF559:NM_001202407:exon6:c.1045_1048del:p.N350Pfs*12,ZNF559:NM_032497:exon7:c.1171_1174del:p.N392Pfs*12","zinc finger protein 559","1.572200403 (96.6022%)","7.72E-09(89.1852%)","19p13.2","rs745537764","-",{"v":4.06e-06,"d":"4.06E-06"},0,"-","-"]
["A3467","Male","chr7",147092756,147092756,"A","T","Het","Dmis","Paternal_inheritance","CNTNAP2","nonsynonymous SNV","CNTNAP2:NM_014141:exon10:c.1554A>T:p.Q518H","contactin associated protein-like 2","-0.135838044 (40.9065%)","3.83E-05(74.5569%)","7q35","-","0.812:D","-","-","-","-"]
["A3488","Female","chr18",31326111,31326111,"A","T","Het","Dmis","Paternal_inheritance","ASXL3","nonsynonymous SNV","ASXL3:NM_030632:exon12:c.6299A>T:p.Q2100L","additional sex combs like 3, transcriptional regulator","-1.329796683 (5.20954%)","0.999977048(2.8697%)","18q12.1","-","0.790:D","-","-","-","-"]
["A3495","Male","chr20",44580904,44580904,"C","T","Het","Dmis","Paternal_inheritance","ZNF335","nonsynonymous SNV","ZNF335:NM_022095:exon20:c.3071G>A:p.C1024Y","zinc finger protein 335","-1.845984248 (2.42533%)","0.006503002(56.8340%)","20q13.12","-","0.942:D","-","-","-","-"]
["A3498","Male","chr13",110804738,110804738,"T","C","Het","Dmis","Paternal_inheritance","COL4A1","nonsynonymous SNV","COL4A1:NM_001845:exon51:c.4871A>G:p.Y1624C","collagen type IV alpha 1","-2.215526027 (1.48182%)","0.999999981(0.8450%)","13q34","-","0.983:D","-","-","-","-"]
["A3505","Male","chr9",135786938,135786938,"G","A","Het","Dmis","Paternal_inheritance","TSC1","nonsynonymous SNV","TSC1:NM_001162427:exon9:c.778C>T:p.P260S,TSC1:NM_000368:exon10:c.931C>T:p.P311S,TSC1:NM_001162426:exon10:c.931C>T:p.P311S","tuberous sclerosis 1","-0.568972928 (19.4605%)","0.999978334(2.8148%)","9q34.13","-","0.889:D","-","-","-","-"]
["A3520","Male","chr6",152527394,152527394,"A","C","Het","Dmis","Paternal_inheritance","SYNE1","nonsynonymous SNV","SYNE1:NM_033071:exon125:c.22715T>G:p.L7572W,SYNE1:NM_182961:exon126:c.22928T>G:p.L7643W","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.2","-","0.849:D","-","-","-","-"]
["A3532","Male","chr19",50367635,50367635,"G","A","Het","Dmis","Paternal_inheritance","PNKP","nonsynonymous SNV","PNKP:NM_007254:exon5:c.524C>T:p.T175M","polynucleotide kinase 3'-phosphatase","0.239382458 (65.9122%)","2.88E-07(84.5542%)","19q13.33","-","0.870:D","-","-","-","-"]
["A3532","Male","chr4",100475091,100475091,"C","A","Het","Dmis","Paternal_inheritance","TRMT10A","nonsynonymous SNV;potential splicing","TRMT10A:NM_001134665:exon6:c.496G>T:p.D166Y,TRMT10A:NM_001134666:exon6:c.496G>T:p.D166Y,TRMT10A:NM_152292:exon6:c.496G>T:p.D166Y","-","-","2.84E-05(75.2757%)","4q23","-","0.867:D","-","-","-","-"]
["A3538","Female","chr1",43394679,43394679,"C","A","Het","Dmis","Paternal_inheritance","SLC2A1","nonsynonymous SNV","SLC2A1:NM_006516:exon8:c.998G>T:p.R333L","solute carrier family 2 member 1","-0.915582298 (10.4885%)","0.93980813(15.5556%)","1p34.2","-","0.998:D","-","-","-","-"]
["A3547","Male","chr1",8418867,8418867,"G","A","Het","Dmis","Paternal_inheritance","RERE","nonsynonymous SNV","RERE:NM_001042682:exon10:c.2066C>T:p.P689L,RERE:NM_001042681:exon20:c.3728C>T:p.P1243L,RERE:NM_012102:exon21:c.3728C>T:p.P1243L","arginine-glutamic acid dipeptide (RE) repeats","-2.692017503 (0.897198%)","0.999995655(2.1509%)","1p36.23","-","0.838:D","-","-","-","-"]
["A3553","Male","chr9",133911623,133911623,"C","T","Het","Dmis","Paternal_inheritance","LAMC3","nonsynonymous SNV","LAMC3:NM_006059:exon4:c.880C>T:p.H294Y","laminin subunit gamma 3","2.420983809 (99.016%)","9.82E-11(92.8999%)","9q34.12","-","0.849:D","-","-","-","-"]
["A3553","Male","chr4",114251470,114251470,"G","A","Het","Dmis","Paternal_inheritance","ANK2","nonsynonymous SNV","ANK2:NM_001148:exon27:c.2969G>A:p.R990Q,ANK2:NM_020977:exon27:c.2969G>A:p.R990Q,ANK2:NM_001127493:exon29:c.2942G>A:p.R981Q","ankyrin 2, neuronal","-2.975174634 (0.706182%)","1(0.1646%)","4q26","rs373261456","0.956:D",{"v":2.44E-5,"d":"2.44E-05"},0,"-","-"]
["A3563","Female","chr13",100888106,100888106,"A","C","Het","Dmis","Paternal_inheritance","PCCA","nonsynonymous SNV","PCCA:NM_001127692:exon7:c.533A>C:p.E178A,PCCA:NM_000282:exon8:c.611A>C:p.E204A,PCCA:NM_001178004:exon8:c.611A>C:p.E204A","propionyl-CoA carboxylase alpha subunit","-0.84576154 (11.8835%)","2.13E-10(92.3512%)","13q32.3","rs766876474","0.903:D",{"v":8.13e-06,"d":"8.13E-06"},0,"-","-"]
[7595,"Male","chr6",24515468,24515468,"T","G","Comp","Dmis","Paternal_inheritance","ALDH5A1","nonsynonymous SNV","ALDH5A1:NM_001080:exon5:c.800T>G:p.V267G,ALDH5A1:NM_170740:exon6:c.839T>G:p.V280G","aldehyde dehydrogenase 5 family member A1","0.362161292 (72.2505%)","0.002904262(60.4335%)","6p22.3","-","0.991:D","-","-","-","-"]
["A958","Female","chr16",4847727,4847727,"C","G","Het","Dmis","Paternal_inheritance","ROGDI","nonsynonymous SNV","ROGDI:NM_024589:exon10:c.810G>C:p.Q270H","rogdi homolog","0.578194712 (81.1704%)","3.13E-12(94.7874%)","16p13.3","-","0.778:D","-","-","-","-"]
["A958","Female","chr16",4847728,4847728,"T","G","Het","Dmis","Paternal_inheritance","ROGDI","nonsynonymous SNV","ROGDI:NM_024589:exon10:c.809A>C:p.Q270P","rogdi homolog","0.578194712 (81.1704%)","3.13E-12(94.7874%)","16p13.3","-","0.948:D","-","-","-","-"]
["A2200","Female","chr1",197111896,197111896,"-","G","Het","PTV","Paternal_inheritance","ASPM","frameshift insertion","ASPM:NM_001206846:exon3:c.1485dupC:p.T496Hfs*2,ASPM:NM_018136:exon3:c.1485dupC:p.T496Hfs*2","abnormal spindle microtubule assembly","0.345649059 (71.4459%)","6.16E-26(99.3690%)","1q31.3","rs773592526","-",{"v":1.22E-5,"d":"1.22E-05"},0.0002,"-","-"]
["A2362","Female","chr16",2129053,2129053,"C","T","Het","Dmis","Paternal_inheritance","TSC2","nonsynonymous SNV","TSC2:NM_001318831:exon23:c.2255C>T:p.T752I,TSC2:NM_001318827:exon25:c.2747C>T:p.T916I,TSC2:NM_001318829:exon25:c.2711C>T:p.T904I,TSC2:NM_001077183:exon26:c.2855C>T:p.T952I,TSC2:NM_001318832:exon26:c.2888C>T:p.T963I,TSC2:NM_000548:exon27:c.2987C>T:p.T996I,TSC2:NM_001114382:exon27:c.2987C>T:p.T996I","tuberous sclerosis 2","-2.944580835 (0.729335%)","0.999999983(0.8176%)","16p13.3","-","0.897:D","-","-","-","-"]
["A2740","Male","chr2",167160795,167160795,"C","T","Het","Dmis","Paternal_inheritance","SCN9A","nonsynonymous SNV","SCN9A:NM_002977:exon6:c.641G>A:p.R214Q","sodium voltage-gated channel alpha subunit 9","0.192209185 (63.3422%)","9.30E-13(95.2483%)","2q24.3","rs201741634","0.997:D",{"v":3.66e-05,"d":"3.66E-05"},0,"-","-"]
["A2740","Male","chr2",167055410,167055414,"TGATA","-","Het","PTV","Paternal_inheritance","SCN9A","frameshift deletion","SCN9A:NM_002977:exon27:c.5702_5706del:p.I1901Kfs*10","sodium voltage-gated channel alpha subunit 9","0.192209185 (63.3422%)","9.30E-13(95.2483%)","2q24.3","rs768125863","-",{"v":5.69e-05,"d":"5.69E-05"},0.0008,"-","-"]
["A2122","Female","chr17",15965025,15965026,"TG","-","Het","PTV","Paternal_inheritance","NCOR1","frameshift deletion","NCOR1:NM_006311:exon37:c.5570_5571del:p.S1857Cfs*3","nuclear receptor corepressor 1","-3.079715329 (0.648298%)","0.999999999(0.5158%)","17p12","-","-",0,0,"-","-"]
["A2122","Female","chr17",15965028,15965028,"C","-","Het","PTV","Paternal_inheritance","NCOR1","frameshift deletion","NCOR1:NM_006311:exon37:c.5568delG:p.R1856Sfs*10","nuclear receptor corepressor 1","-3.079715329 (0.648298%)","0.999999999(0.5158%)","17p12","-","-",0,0,"-","-"]
["A52","Male","chr1",197060048,197060048,"T","A","Comp","PTV","Paternal_inheritance","ASPM","stopgain","ASPM:NM_001206846:exon22:c.4813A>T:p.K1605X,ASPM:NM_018136:exon23:c.9568A>T:p.K3190X","abnormal spindle microtubule assembly","0.345649059 (71.4459%)","6.16E-26(99.3690%)","1q31.3","-","0.467:T","-","-","-","-"]
["A3241","Male","chr2",50765639,50765642,"CACA","-","Het","PTV","Paternal_inheritance","NRXN1","frameshift deletion","NRXN1:NM_001330087:exon6:c.1808_1811del:p.V603Gfs*36,NRXN1:NM_001330096:exon6:c.1808_1811del:p.V603Gfs*36,NRXN1:NM_001330083:exon7:c.1853_1856del:p.V618Gfs*36,NRXN1:NM_001330084:exon7:c.1853_1856del:p.V618Gfs*36,NRXN1:NM_001330088:exon7:c.1838_1841del:p.V613Gfs*36,NRXN1:NM_001330077:exon9:c.1868_1871del:p.V623Gfs*36,NRXN1:NM_001330082:exon9:c.1868_1871del:p.V623Gfs*36,NRXN1:NM_001330094:exon9:c.1880_1883del:p.V627Gfs*36,NRXN1:NM_001330095:exon9:c.1868_1871del:p.V623Gfs*36,NRXN1:NM_001330078:exon10:c.1892_1895del:p.V631Gfs*36,NRXN1:NM_001330085:exon10:c.1892_1895del:p.V631Gfs*36,NRXN1:NM_001330086:exon10:c.1892_1895del:p.V631Gfs*36,NRXN1:NM_001330093:exon10:c.1889_1892del:p.V630Gfs*36,NRXN1:NM_004801:exon10:c.1892_1895del:p.V631Gfs*36,NRXN1:NM_001135659:exon11:c.2012_2015del:p.V671Gfs*36","neurexin 1","-1.883401977 (2.29799%)","0.999948738(3.2209%)","2p16.3","-","-","-","-","-","-"]
["A3241","Male","chr2",50765642,50765642,"-","TCTGCTT","Het","PTV","Paternal_inheritance","NRXN1","frameshift insertion","NRXN1:NM_001330087:exon6:c.1807_1808insAAGCAGA:p.V603Efs*32,NRXN1:NM_001330096:exon6:c.1807_1808insAAGCAGA:p.V603Efs*32,NRXN1:NM_001330083:exon7:c.1852_1853insAAGCAGA:p.V618Efs*32,NRXN1:NM_001330084:exon7:c.1852_1853insAAGCAGA:p.V618Efs*32,NRXN1:NM_001330088:exon7:c.1837_1838insAAGCAGA:p.V613Efs*32,NRXN1:NM_001330077:exon9:c.1867_1868insAAGCAGA:p.V623Efs*32,NRXN1:NM_001330082:exon9:c.1867_1868insAAGCAGA:p.V623Efs*32,NRXN1:NM_001330094:exon9:c.1879_1880insAAGCAGA:p.V627Efs*32,NRXN1:NM_001330095:exon9:c.1867_1868insAAGCAGA:p.V623Efs*32,NRXN1:NM_001330078:exon10:c.1891_1892insAAGCAGA:p.V631Efs*32,NRXN1:NM_001330085:exon10:c.1891_1892insAAGCAGA:p.V631Efs*32,NRXN1:NM_001330086:exon10:c.1891_1892insAAGCAGA:p.V631Efs*32,NRXN1:NM_001330093:exon10:c.1888_1889insAAGCAGA:p.V630Efs*32,NRXN1:NM_004801:exon10:c.1891_1892insAAGCAGA:p.V631Efs*32,NRXN1:NM_001135659:exon11:c.2011_2012insAAGCAGA:p.V671Efs*32","neurexin 1","-1.883401977 (2.29799%)","0.999948738(3.2209%)","2p16.3","-","-","-","-","-","-"]
["s4612","Male","chr6",79698068,79698068,"T","C","Het","PTV","Paternal_inheritance","PHIP","splicing","NM_017934:exon21:c.2320-2A>G","pleckstrin homology domain interacting protein","-2.790384398 (0.827738%)","0.999999948(0.9492%)","6q14.1","rs200515013","0.553:T",0,0,"-","-"]
["s3800","Female","chr4",100478501,100478501,"C","T","Het","PTV","Paternal_inheritance","TRMT10A","splicing","NM_001134665:exon4:c.420+1G>A;NM_001134666:exon4:c.420+1G>A;NM_152292:exon4:c.420+1G>A","tRNA methyltransferase 10A","0.075535263 (55.6958%)","2.84E-05(75.2757%)","4q23","rs760530351","0.679:T",{"v":8.16e-06,"d":"8.16E-06"},1E-4,"-","-"]
["s4414","Male","chr17",3594249,3594249,"C","T","Het","PTV","Paternal_inheritance","P2RX5","splicing","NM_001204519:exon3:c.360+1G>A;NM_002561:exon3:c.360+1G>A","purinergic receptor P2X 5","0.505084658 (78.392%)","1.83E-05(76.4390%)","17p13.2","-","0.677:T","-","-","-","-"]
[7527,"Male","chr17",18137091,18137091,"G","T","Het","PTV","Paternal_inheritance","LLGL1","splicing","NM_004140:exon5:c.393-1G>T","lethal giant larvae homolog 1, scribble cell polarity complex component","-1.695070442 (2.9405%)","0.977463207(12.0988%)","17p11.2","-","0.593:T","-","-","-","-"]
[6574,"Male","chr6",152711414,152711414,"C","T","Het","PTV","Paternal_inheritance","SYNE1","splicing","NM_033071:exon53:c.8198+1G>A;NM_182961:exon53:c.8177+1G>A","spectrin repeat containing, nuclear envelope 1","-1.101801404 (7.70433%)","3.75E-27(99.4458%)","6q25.2","-","0.700:D","-","-","-","-"]
[9344,"Female","chr8",100515179,100515179,"G","C","Het","PTV","Paternal_inheritance","VPS13B","splicing","NM_017890:exon27:c.4157+1G>C;NM_152564:exon27:c.4157+1G>C","vacuolar protein sorting 13 homolog B (yeast)","-2.877970131 (0.769854%)","9.81E-27(99.4239%)","8q22.2","-","0.741:D","-","-","-","-"]
[9439,"Male","chr18",19358062,19358062,"A","C","Het","PTV","Paternal_inheritance","MIB1","splicing","NM_020774:exon5:c.637-2A>C","mindbomb E3 ubiquitin protein ligase 1","-2.266121929 (1.38342%)","1.00E-44(99.9232%)","18q11.2","-","0.730:D","-","-","-","-"]
["A1936","Female","chr2",219527404,219527404,"T","G","Het","PTV","Paternal_inheritance","BCS1L","splicing","NM_001257344:exon6:c.889+2T>G;NM_001320717:exon7:c.889+2T>G;NM_004328:exon7:c.889+2T>G;NM_001318836:exon5:c.529+2T>G;NM_001257342:exon7:c.889+2T>G;NM_001257343:exon7:c.889+2T>G;NM_001079866:exon6:c.889+2T>G","BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone","0.103337361 (57.6001%)","2.28E-08(87.9451%)","2q35","-","0.585:T","-","-","-","-"]
["A2074","Male","chr6",52355149,52355149,"G","A","Het","PTV","Paternal_inheritance","EFHC1","splicing","NM_018100:exon10:c.1851+1G>A;NM_001172420:exon11:c.1794+1G>A","EF-hand domain (C-terminal) containing 1","0.83608509 (87.9775%)","5.06E-12(94.6063%)","6p12.2","-","0.663:T",{"v":4.08e-06,"d":"4.08E-06"},{"v":5.8E-5,"d":"5.80E-05"},"-","-"]
["A2734","Male","chr22",18907217,18907217,"A","G","Het","PTV","Paternal_inheritance","PRODH","splicing","NM_001195226:exon9:c.780+2T>C;NM_016335:exon10:c.1104+2T>C","proline dehydrogenase (oxidase) 1","1.433781382 (95.8092%)","4.75E-06(79.5775%)","22q11.21","rs2870997","0.521:T",{"v":8.16e-06,"d":"8.16E-06"},0,"-","-"]
["A3116","Male","chr8",100396508,100396508,"A","G","Het","Dmis","Paternal/Maternal","VPS13B","nonsynonymous SNV","VPS13B:NM_017890:exon20:c.2897A>G:p.Y966C,VPS13B:NM_152564:exon20:c.2897A>G:p.Y966C","vacuolar protein sorting 13 homolog B (yeast)","-2.877970131 (0.769854%)","9.81E-27(99.4239%)","8q22.2","rs779809192","0.896:D",{"v":8.13e-06,"d":"8.13E-06"},0,"-","-"]
["A3119","Male","chr8",100396508,100396508,"A","G","Het","Dmis","Paternal/Maternal","VPS13B","nonsynonymous SNV","VPS13B:NM_017890:exon20:c.2897A>G:p.Y966C,VPS13B:NM_152564:exon20:c.2897A>G:p.Y966C","vacuolar protein sorting 13 homolog B (yeast)","-2.877970131 (0.769854%)","9.81E-27(99.4239%)","8q22.2","rs779809192","0.896:D",{"v":8.13e-06,"d":"8.13E-06"},0,"-","-"]
[6568,"Male","chr15",85196889,85196889,"C","G","Comp","Dmis","Paternal/Maternal","WDR73","nonsynonymous SNV","WDR73:NM_032856:exon2:c.83G>C:p.R28P","WD repeat domain 73","0.083031743 (56.2399%)","7.90E-06(78.6063%)","15q25.2","-","0.790:D","-","-","-","-"]