"VARIANT_ID","GENOMIC_POSITION","REF_ALLELE","ALT_ALLELE","GENE_NAME","TRANSCRIPT_ID","DNA_STRAND","CDNA_CHANGE","PROTEIN_CHANGE","VARIANT_EFFECT","SIFT_PREDICTION","PP2_HVAR_PREDICTION","DEOGEN_PREDICTION","CADD_PREDICTION","DBSNP141_ID","1000GP3_AF","ESP6500_AA_AF","ESP6500_EA_AF","EXAC_AF","lastmodified"
"1","2604765","C","A","KCNQ1","NM_000218.2","(+)","c.1022C>A","p.(A341E)","missense","D","D","0.99","7.2388","rs12720459",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"21","150645943","C","T","KCNH2","NM_000238.3","(-)","c.2592+1G>A",NULL,"splicing",NULL,NULL,NULL,"4.93434",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:29:59"
"3","20763485","AG","A","GJB2","NM_004004.5","(-)","c.235delC","p.(L79Cfs*3)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"4","35250860","A","G","GJB3","NM_024009.2","(+)","c.497A>G","p.(N166S)","missense","T","B","0.39","-1.419","rs121908851",NULL,NULL,NULL,"8.236e-06","2015-09-09 11:28:48"
"5","35250943","G","A","GJB3","NM_024009.2","(+)","c.580G>A","p.(A194T)","missense","T","B","0.4","1.906","rs117385606","0.0013977635782747603",NULL,NULL,"8.813e-04","2015-09-09 11:28:48"
"6","20763420","CAT","C","GJB2","NM_004004.5","(-)","c.299_300delAT","p.(H100Rfs*14)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"7","107302171","G","C","SLC26A4","NM_000441.1","(+)","c.85G>C","p.(E29Q)","missense","T","B","0.21","3.47723","rs111033205",NULL,NULL,NULL,"7.697e-05","2015-09-09 11:28:48"
"8","169535251","G","A","FOXI1","NM_012188.4","(+)","c.773G>A","p.(G258E)","missense","T","B","0.12","-0.562827","rs121909340",NULL,"0.0","2.3255813953488373E-4","1.235e-04","2015-09-09 11:28:48"
"9","73544808","T","C","CDH23","NM_022124.5","(+)","c.5663T>C","p.(F1888S)","missense",NULL,"D","0.52","3.94135","rs121908352",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"10","10401576","C","T","ATP2B2","NM_001683.3","(-)","c.1756G>A","p.(V586M)","missense","T","P","0.3",NULL,"rs61736451","0.007987220447284345","0.0015887426236949613","0.007209302325581395","8.805e-03","2015-09-09 11:28:48"
"11","55581882","GTTG","G","PCDH15","NM_033056.3","(-)","c.5601_5603delAAC","p.(T1869del)","deletion",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"12","73269885","CC","C","CDH23","NM_022124.5","(+)","c.193delC","p.(L65Wfs*49)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"13","56424006","TA","T","PCDH15","NM_033056.3","(-)","c.16delT","p.(Y6Ifs*6)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"14","73572579","C","T","CDH23","NM_022124.5","(+)","c.9565C>T","p.(R3189W)","missense","D","D","0.23",NULL,"rs121908353",NULL,NULL,NULL,"8.258e-06","2015-09-09 11:28:48"
"15","73490271","A","G","CDH23","NM_022124.5","(+)","c.3625A>G","p.(T1209A)","missense",NULL,"B","0.23","3.91062","rs41281314","0.04932108626198083","0.1416584402764067","5.988023952095808E-4","1.284e-02","2015-09-09 11:28:48"
"16","170458984","A","AT","NEK1","NM_001199397.1","(-)","c.1640insA","p.(N547Kfs*2)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"17","103191758","G","A","DYNC2H1","NM_001080463.1","(+)","c.11747G>A","p.(G3916D)","missense","T","B","0.07","3.07471","rs201479015","3.9936102236421724E-4","0.0","2.460024600246002E-4","1.574e-04","2015-09-09 11:28:48"
"18","179530462","C","T","NPHS2","NM_014625.2","(-)","c.413G>A","p.(R138Q)","missense","D","D","0.91","7.79579","rs74315342",NULL,"0.0","9.302325581395349E-4","6.754e-04","2015-09-09 11:28:48"
"19","36342288","T","G","NPHS1","NM_004646.3","(-)","c.275-2A>C",NULL,"splicing",NULL,NULL,NULL,"5.3092",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:29:59"
"20","5283323","A","C","PROKR2","NM_144773.2","(-)","c.518T>G","p.(L173R)","missense","D","D","0.45","4.87135","rs74315416","9.98402555910543E-4","9.078529278256923E-4","0.0034883720930232558","2.249e-03","2015-09-09 11:28:48"
"21","8536293","G","A","KAL1","NM_000216.2","(-)","c.1187C>T","p.(S396L)","missense","D","B","0.37",NULL,NULL,"5.298013245033113E-4","0.0","1.4863258026159333E-4","2.142e-04","2015-09-09 11:28:48"
"22","38279371","A","G","FGFR1","NM_023110.2","(-)","c.1025T>C","p.(L342S)","missense","D","P","0.77",NULL,"rs121909638",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"23","140347052","CAGGCCACA","C","NSMF","NM_001130969.1","(-)","c.1132-22_1132-15del","p.(Y376*)","nonsense",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"24","38275767","C","A","FGFR1","NM_023110.2","(-)","c.1409G>T","p.(R470L)","missense","T","B","0.74","4.71172","rs121909637","1.9968051118210862E-4",NULL,NULL,"1.654e-05","2015-09-09 11:28:48"
"25","68619737","T","C","GNRHR","NM_000406.2","(-)","c.317A>G","p.(Q106R)","missense","T","D","0.71",NULL,NULL,"0.0011980830670926517","6.808896958692692E-4","0.0034883720930232558","2.520e-03","2015-09-09 11:28:48"
"26","68606400","C","T","GNRHR","NM_000406.2","(-)","c.785G>A","p.(R262Q)","missense","D","D","0.75","7.71544","rs104893837","5.990415335463259E-4","2.2696323195642307E-4","0.0022093023255813954","2.034e-03","2015-09-09 11:28:48"
"27","8504893","C","T","KAL1","NM_000216.2","(-)","c.1540G>A","p.(E514K)","missense","T","P","0.17",NULL,"rs137852515",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"28","140349707","C","T","NSMF","NM_015537.4","(-)","c.757G>A","p.(A253T)","missense","T","D","0.3",NULL,"rs142726563",NULL,"4.5392646391284613E-4","3.488372093023256E-4","1.814e-04","2015-09-09 11:28:48"
"29","8565125","CAAC","C","KAL1","NM_000216.2","(-)","c.488_490delGTT","p.(C163del)","deletion",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"30","140346900","G","A","NSMF","NM_015537.4","(-)","c.1160-13C>T",NULL,"intronic",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:29:59"
"31","104577415","C","T","TACR3","NM_001059.2","(-)","c.824G>A","p.(W275*)","nonsense",NULL,NULL,NULL,"14.2804","rs144292455",NULL,"0.0","9.302325581395349E-4","2.224e-04","2015-09-09 11:28:48"
"32","38287386","GCAGCCGA","G","FGFR1","NM_023110.2","(-)","c.165_171del","p.(C55fs*45)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"33","71831283","T","C","TJP2","NM_004817.3","(+)","c.143T>C","p.(V48A)","missense","D","D","0.44",NULL,"rs121918299",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"34","104133461","T","C","BAAT","NM_001701.3","(-)","c.226A>G","p.(M66V)","missense","D","D","0.03","4.56935","rs28937579",NULL,NULL,NULL,"3.295e-05","2015-09-09 11:28:48"
"35","146071731","C","A","OTUD4","NM_001102653.1","(-)","c.998G>T","p.(G333V)","missense","D","P","0.18",NULL,"rs148857745",NULL,"0.0","2.3255813953488373E-4","3.459e-04","2015-09-09 11:28:48"
"36","5680916","G","A","RNF216","NM_207111.2","(-)","c.2251C>T","p.(R751C)","missense","D","D","0.24","7.76848","rs387907368",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"37","78475230","C","T","EDNRB","NM_000115.3","(-)","c.914G>A","p.(S305N)","missense","T","B","0.27",NULL,"rs386598428","0.0049920127795527154","0.0020426690876078077","0.01383720930232558","8.864e-03","2015-09-09 11:28:48"
"38","43609989","C","T","RET","NM_020975.4","(+)","c.1941C>T","p.(I647I)","silent",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"39","8025408","G","T","PARK7","NM_007262.4","(+)","c.115G>T","p.(A39S)","missense","T","B","0.2",NULL,"rs137853051",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"40","20975070","C","T","PINK1","NM_032409.2","(+)","c.1196C>T","p.(P399L)","missense","D","D","0.33","7.63484","rs119451946","1.9968051118210862E-4",NULL,NULL,"8.236e-06","2015-09-09 11:28:48"
"41","162622173","GT","G","PARK2","NM_004562.2","(-)","c.523delA","p.(T175Pfs*2)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"42","20960216","G","GGCAGGG","PINK1","NM_032409.2","(+)","c.170_175dup","p.(R58_V59insGR )","insertion",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"43","38298394","C","T","CYP1B1","NM_000104.3","(-)","c.1103G>A","p.(R368H)","missense",NULL,"D","0.59","7.0494","rs79204362","0.004193290734824281","0.0011410314924691922","0.0018700327255726976","5.959e-03","2015-09-09 11:28:48"
"44","171605384","C","A","MYOC","NM_000261.1","(-)","c.1196G>T","p.(G399V)","missense","D","D","0.99","6.3007","rs28936694",NULL,NULL,NULL,"3.295e-05","2015-09-09 11:28:48"
"45","171621608","C","A","MYOC","NM_000261.1","(-)","c.144G>T","p.(Q48H)","missense","D","B","0.23",NULL,"rs74315339","0.002595846645367412",NULL,NULL,"1.318e-03","2015-09-09 11:28:48"
"46","70008536","GA","G","MITF","NM_000248.3","(+)","c.824delA","p.(E275Gfs*37)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"47","89017961","G","A","TYR","NM_000372.4","(+)","c.1205G>A","p.(R402Q)","missense","D","D","0.83","7.32139","rs1126809","0.0812699680511182","0.050658791458427985","0.2812281926029309","1.762e-01","2015-09-09 11:28:48"
"48","28230247","C","T","OCA2","NM_000275.2","(-)","c.1327G>A","p.(V443I)","missense","D","D","0.48","7.35374","rs121918166","7.987220447284345E-4","0.0022696323195642307","0.006279069767441861","2.809e-03","2015-09-09 11:28:48"
"49","88960984","T","A","TYR","NM_000372.4","(+)","c.1037-7T>A",NULL,"intronic",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:29:59"
"50","28326942","C","T","OCA2","NM_000275.2","(-)","c.79G>A","p.(G27R)","missense","T","B","0.28","0.078609","rs61738394","0.0027955271565495207","0.015909090909090907","3.494874184529357E-4","1.445e-03","2015-09-09 11:28:48"
"51","105801284","A","C","COL17A1","NM_000494.3","(-)","c.2564T>G","p.(L855*)","nonsense",NULL,NULL,NULL,"14.1459","rs121912772",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"52","105794469","G","A","COL17A1","NM_000494.3","(-)","c.3676C>T","p.(R1226*)","nonsense",NULL,NULL,NULL,"14.1113","rs121912769",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"53","209799066","G","A","LAMB3","NM_000228.2","(-)","c.1903C>T","p.(R635*)","nonsense",NULL,NULL,NULL,"10.2003","rs80356682",NULL,"2.2696323195642307E-4","6.976744186046512E-4","7.578e-04","2015-09-09 11:28:48"
"54","155530877","C","T","FGG","NM_021870.2","(-)","c.571G>A","p.(G191R)","missense","D","D","0.5","7.26465","rs6063","0.0027955271565495207","0.0011348161597821154","0.0051162790697674414","2.702e-03","2015-09-09 11:28:48"
"55","155510666","G","A","FGA","NM_000508.3","(-)","c.103C>T","p.(R35C)","missense","D","D","0.89",NULL,"rs121909606",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"56","44539792","T","C","SLC3A1","NM_000341.3","(+)","c.1400T>C","p.(M467T)","missense","T","B","0.9",NULL,"rs121912691","3.9936102236421724E-4","9.078529278256923E-4","0.002674418604651163","2.710e-03","2015-09-09 11:28:48"
"57","33353033","T","C","SLC7A9","NM_014270.4","(-)","c.695A>G","p.(Y232C)","missense","D","D","0.95",NULL,"rs121908487",NULL,"0.0","1.1627906976744187E-4","1.153e-04","2015-09-09 11:28:48"
"58","33355167","C","T","SLC7A9","NM_014270.4","(-)","c.313G>A","p.(G105R)","missense","D","D","0.94",NULL,NULL,"5.990415335463259E-4","0.0","4.6511627906976747E-4","2.471e-04","2015-09-09 11:28:48"
"59","44508562","C","T","SLC3A1","NM_000341.3","(+)","c.647C>T","p.(T216M)","missense","D","D","0.95",NULL,"rs369641941",NULL,"0.0","1.1627906976744187E-4","6.589e-05","2015-09-09 11:28:48"
"61","86662548","C","T","FZD4","NM_012193.3","(-)","c.1250G>A","p.(R417Q)","missense","D","D","0.88","6.91707","rs80358294",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"62","68154098","C","T","LRP5","NM_002335.2","(+)","c.1330C>T","p.(R444C)","missense","D","B","0.91","7.0738","rs80358308",NULL,NULL,NULL,"2.472e-05","2015-09-09 11:28:48"
"63","35775902","G","A","HAMP","NM_021175.2","(+)","c.212G>A","p.(G71D)","missense","D","B","0.75",NULL,"rs104894696","3.9936102236421724E-4","4.5392646391284613E-4","0.0027906976744186047","2.026e-03","2015-09-09 11:28:48"
"65","153608643","T","G","EMD","NM_000117.2","(+)","c.315T>G","p.(Y105*)","nonsense",NULL,NULL,NULL,"7.18287",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"66","156105731","T","A","LMNA","NM_170707.3","(+)","c.976T>A","p.(S326T)","missense","T","B","0.54","0.716822","rs56851164",NULL,NULL,NULL,"5.766e-05","2015-09-09 11:28:48"
"67","75272419","C","T","GDAP1","NM_018972.2","(+)","c.358C>T","p.(R120W)","missense","D","D","0.6","7.36147","rs104894078",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"68","12057357","GTG","G","MFN2","NM_014874.3","(+)","c.479_480delTG","p.(V160Efs*27)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"69","98307675","C","G","CPOX","NM_000097.5","(-)","c.835G>C","p.(G279R)","missense","D","D","0.81","6.70319","rs121917874",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"70","116155804","G","C","ALAD","NM_000031.5","(-)","c.36C>G","p.(F12L)","missense","T","B","0.74","3.34811","rs121912984",NULL,"0.0","1.1627906976744187E-4","3.295e-05","2015-09-09 11:28:48"
"71","89865023","C","T","POLG","NM_002693.2","(-)","c.2542G>A","p.(G848S)","missense","D","D","0.97","7.35449","rs113994098","1.9968051118210862E-4","4.5454545454545455E-4","2.3261223540358222E-4","1.565e-04","2015-09-09 11:28:48"
"72","166848731","G","A","SCN1A","NM_001165963.1","(-)","c.5054C>T","p.(A1685V)","missense","D","D","0.99","6.35887","rs121918744",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"73","166172168","G","A","SCN2A","NM_021007.2","(+)","c.1571G>A","p.(R524Q)","missense",NULL,"B","0.39",NULL,"rs186154973","3.9936102236421724E-4",NULL,NULL,"1.153e-04","2015-09-09 11:28:48"
"74","16256935","G","A","ABCC6","NM_001171.5","(-)","c.3421C>T","p.(R1141*)","nonsense",NULL,NULL,NULL,"13.4471","rs72653706","5.990415335463259E-4","9.103322712790169E-4","0.0027906976744186047","1.392e-03","2015-09-09 11:28:48"
"75","85781392","C","T","GGCX","NM_000821.4","(-)","c.763G>A","p.(V255M)","missense","D","P","0.76",NULL,"rs121909683",NULL,NULL,NULL,"1.647e-05","2015-09-09 11:28:48"
"76","111539399","G","A","PITX2","NM_153427.1","(-)","c.698C>T","p.(S233L)","missense","D","D","0.8",NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"77","1611288","CC","C","FOXC1","NM_001453.2","(+)","c.609delC","p.(A402Rfs*111)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"78","39739598","C","T","KRT14","NM_000526.4","(-)","c.1163G>A","p.(R388H)","missense","D","D","0.86","6.46059","rs58645163","0.0","0.0","2.3255813953488373E-4","1.153e-04","2015-09-09 11:28:48"
"79","52913533","A","G","KRT5","NM_000424.3","(-)","c.548T>C","p.(I183T)","missense","D","D","0.97","5.7796","rs267607661",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"80","169519049","C","T","F5","NM_000130.4","(-)","c.1601G>A","p.(R534Q)","missense",NULL,NULL,"0.31",NULL,"rs6025",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"81","86662295","AAG","A","FZD4","NM_012193.3","(-)","c.1501_1502delCT","p.(L501Sfs*33)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"82","118960778","G","T","HMBS","NM_000190.3","(+)","c.422+1G>T",NULL,"splicing",NULL,NULL,NULL,"5.03086",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:29:59"
"83","45480125","T","TTT","UROD","NM_000374.4","(+)","c.650_651dupTT","p.(E218Lfs*28)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"84","26093141","G","A","HFE","NM_000410.3","(+)","c.845G>A","p.(C282Y)","missense","D","P","0.44",NULL,"rs1800562","0.012579872204472844","0.015206536541080345","0.06406976744186046","3.243e-02","2015-09-09 11:28:48"
"85","35775748","GATGGT","G","HAMP","NM_021175.2","(+)","c.148_150+2delATGGT","p.(M50del)","deletion",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"86","2604765","C","T","KCNQ1","NM_000218.2","(+)","c.1022C>T","p.(A341V)","missense","D","D","0.99","7.28073","rs12720459",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"87","35821554","G","T","KCNE1","NM_000219.5","(-)","c.379C>A","p.(P127T)","missense","D","B","0.64",NULL,"rs199473647",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"88","2591882","G","A","KCNQ1","NM_000218.2","(+)","c.502G>A","p.(G168R)","missense","D","D","0.99","7.027","rs179489",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"89","35821680","C","T","KCNE1","NM_000219.5","(-)","c.253G>A","p.(D85N)","missense","D","B","0.83",NULL,NULL,"0.0037939297124600637","0.0020426690876078077","0.012209302325581395","9.142e-03","2015-09-09 11:28:48"
"90","2604678","C","T","KCNQ1","NM_000218.2","(+)","c.935C>T","p.(T312I)","missense","D","D","0.99","6.44337","rs120074182",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"91","2591949","G","A","KCNQ1","NM_000218.2","(+)","c.569G>A","p.(R190Q)","missense","D","D","0.99","7.51741","rs120074178",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"92","150644895","G","A","KCNH2","NM_000238.3","(-)","c.2764C>T","p.(R922W)","missense","D","P","0.51",NULL,"rs199473440",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"93","35821712","G","A","KCNE1","NM_000219.5","(-)","c.221C>T","p.(S74L)","missense","D","D","0.94",NULL,"rs74315446","1.9968051118210862E-4",NULL,NULL,"1.647e-05","2015-09-09 11:28:48"
"94","150648799","G","A","KCNH2","NM_000238.3","(-)","c.1682C>T","p.(A561V)","missense","D","D","0.96",NULL,"rs121912504",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"95","150645954","T","A","KCNH2","NM_000238.3","(-)","c.2582A>T","p.(N861I)","missense","D","D","0.92",NULL,"rs121912513",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"96","150671974","G","T","KCNH2","NM_000238.3","(-)","c.132C>A","p.(C44*)","nonsense",NULL,NULL,NULL,"10.3833",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"97","150648548","T","A","KCNH2","NM_000238.3","(-)","c.1933A>T","p.(M645L)","missense","D","B","0.96",NULL,"rs199472974",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"98","150648656","C","T","KCNH2","NM_000238.3","(-)","c.1825G>A","p.(D609N)","missense","D","D","0.94",NULL,"rs199472941",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"99","150654573","G","A","KCNH2","NM_000238.3","(-)","c.934C>T","p.(R312C)","missense","D","D","0.62",NULL,"rs199472885",NULL,NULL,NULL,"4.119e-05","2015-09-09 11:28:48"
"100","38592932","C","T","SCN5A","NM_198056.2","(-)","c.4931G>A","p.(R1644H)","missense","D","D","0.98",NULL,"rs28937316",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"101","35821838","C","T","KCNE1","NM_000219.5","(-)","c.95G>A","p.(R32H)","missense","T","B","0.64",NULL,"rs17857111",NULL,NULL,NULL,"4.942e-05","2015-09-09 11:28:48"
"102","38592995","C","T","SCN5A","NM_198056.2","(-)","c.4868G>A","p.(R1623Q)","missense","D","P","0.95",NULL,"rs137854600",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"103","2591941","CT","C","KCNQ1","NM_000218.2","(+)","c.562delT","p.(W188Gfs*49)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"104","150644884","G","GG","KCNH2","NM_000238.3","(-)","c.2775dup","p.(P926fsAfs*14)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"105","2593287","G","C","KCNQ1","NM_000218.2","(+)","c.728G>C","p.(R243P)","missense","D","D","0.98","6.76221","rs120074196",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"106","150644817","G","A","KCNH2","NM_000238.3","(-)","c.2842C>T","p.(R948C)","missense","T","B","0.36","4.45742","rs121912514",NULL,NULL,NULL,"2.602e-05","2015-09-09 11:28:48"
"107","38592408","C","T","SCN5A","NM_198056.2","(-)","c.5455G>A","p.(D1819N)","missense","T","P","0.71",NULL,"rs137854619",NULL,NULL,NULL,"3.052e-04","2015-09-09 11:28:48"
"108","150671808","G","C","KCNH2","NM_000238.3","(-)","c.298C>G","p.(R100G)","missense","D","P","0.92",NULL,"rs121912515",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"109","35742955","T","C","KCNE2","NM_172201.1","(+)","c.178T>C","p.(F60L)","missense","D","D","0.95","6.04277","rs16991654",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"110","8787330","C","T","CAV3","NM_033337.2","(+)","c.233C>T","p.(T78M)","missense","T","P","0.74","4.08532","rs72546668","0.001996805111821086","0.0040853381752156154","0.004418604651162791","3.031e-03","2015-09-09 11:28:48"
"111","150644921","G","A","KCNH2","NM_000238.3","(-)","c.2738C>T","p.(A913V)","missense","T","B","0.35","2.61149","rs77331749",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"112","56548501","T","C","BBS2","NM_031885.3","(-)","c.209A>G","p.(N70S)","missense",NULL,NULL,"0.77",NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"113","10394053","T","C","MKKS","NM_018848.3","(-)","c.110A>G","p.(Y37C)","missense","D","D","0.91","4.99965","rs74315396",NULL,"0.0","2.3255813953488373E-4","5.765e-05","2015-09-09 11:28:48"
"114","56553703","G","C","BBS2","NM_031885.3","(-)","c.72C>G","p.(Y24*)","nonsense",NULL,NULL,NULL,"12.2048","rs121908175","1.9968051118210862E-4","0.0","1.1627906976744187E-4","5.767e-05","2015-09-09 11:28:48"
"115","10393439","C","A","MKKS","NM_018848.3","(-)","c.724G>T","p.(A242S)","missense","D","P","0.78","6.32992","rs74315394","0.0017971246006389776","0.0018157058556513845","0.005813953488372093","5.560e-03","2015-09-09 11:28:48"
"116","56548535","G","A","BBS2","NM_031885.3","(-)","c.175C>T","p.(Q59*)","nonsense",NULL,NULL,NULL,"11.3053","rs121908176",NULL,NULL,NULL,"8.236e-06","2015-09-09 11:28:48"
"117","10393721","G","A","MKKS","NM_018848.3","(-)","c.442C>T","p.(Q148*)","nonsense",NULL,NULL,NULL,"6.61189","rs137853154",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"118","73027508","C","A","BBS4","NM_033028.4","(+)","c.1091C>A","p.(A364E)","missense","D","D","0.95",NULL,"rs28938468",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"119","56531779","G","A","BBS2","NM_031885.3","(-)","c.1673C>T","p.(T558I)","missense","D","D","0.91","6.45075","rs370581600",NULL,"0.0","1.1627906976744187E-4","8.237e-06","2015-09-09 11:28:48"
"120","66287196","G","A","BBS1","NM_024649.4","(+)","c.700G>A","p.(E234K)","missense","T","P","0.68",NULL,"rs35520756","0.028354632587859425","0.09954545454545455","5.820721769499418E-4","9.282e-03","2015-09-09 11:28:48"
"121","122775945","G","A","BBS7","NM_176824.2","(-)","c.632C>T","p.(T211I)","missense","D","D","0.74","4.98444","rs119466002",NULL,NULL,NULL,"8.237e-06","2015-09-09 11:28:48"
"122","66290967","C","T","BBS1","NM_024649.4","(+)","c.871C>T","p.(Q291*)","nonsense",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"123","66293652","T","G","BBS1","NM_024649.4","(+)","c.1169T>G","p.(M390R)","missense","D","P","0.75",NULL,"rs113624356","9.98402555910543E-4","6.818181818181819E-4","0.0026775320139697323","1.483e-03","2015-09-09 11:28:48"
"124","10393457","A","G","MKKS","NM_018848.3","(-)","c.706T>C","p.(S236P)","missense","T","B","0.43","0.664501",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"125","66299163","CC","C","BBS1","NM_024649.4","(+)","c.1642delC","p.(L548Wfs*31)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"126","10393190","T","G","MKKS","NM_018848.3","(-)","c.973A>C","p.(T325P)","missense","T","B","0.47","1.83542","rs137853156",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"127","56536263","A","C","BBS2","NM_031885.3","(-)","c.1046T>G","p.(L349W)","missense","D","D","0.93","5.87784","rs752280639",NULL,NULL,NULL,"1.647e-05","2015-09-09 11:28:48"
"128","73029268","A","G","BBS4","NM_033028.4","(+)","c.1414A>G","p.(M472V)","missense","T","B","0.38",NULL,"rs2277596","0.0013977635782747603",NULL,NULL,"6.507e-04","2015-09-09 11:28:48"
"129","56534926","G","A","BBS2","NM_031885.3","(-)","c.1237C>T","p.(R413*)","nonsense",NULL,NULL,NULL,"13.0564","rs147030232","1.9968051118210862E-4","0.0","1.1627906976744187E-4","2.471e-05","2015-09-09 11:28:48"
"130","73029876","C","T","BBS4","NM_033028.4","(+)","c.1508C>T","p.(P503L)","missense","T","B","0.35",NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"131","56519633","C","T","BBS2","NM_031885.3","(-)","c.1928G>A","p.(R643H)","missense","T","P","0.37",NULL,NULL,"1.9968051118210862E-4",NULL,NULL,"2.471e-05","2015-09-09 11:28:48"
"132","73002101","A","G","BBS4","NM_033028.4","(+)","c.137A>G","p.(K46R)","missense","T","B","0.29","3.0505","rs75295839","0.003194888178913738","9.099181073703367E-4","0.010239702117756575","6.861e-03","2015-09-09 11:28:48"
"133","66282056","T","G","BBS1","NM_024649.4","(+)","c.339T>G","p.(Y113*)","nonsense",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"134","32669645","C","T","CCDC28B","NM_024296.3","(+)","c.330C>T","p.(F110F)","silent",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"135","66299163","G","T","BBS1 ","NM_024649.4","(+)","c.1645G>T","p.(E549*)","nonsense",NULL,NULL,NULL,NULL,NULL,"1.9968051118210862E-4",NULL,NULL,"8.236e-06","2015-09-09 11:28:48"
"136","122782813","C","T","BBS7","NM_176824.2","(-)","c.187G>A","p.(G63R)","missense","D","D","0.65","6.66008","rs754579374",NULL,NULL,NULL,"1.647e-05","2015-09-09 11:28:48"
"137","122776642","A","G","BBS7","NM_176824.2","(-)","c.601+2T>C",NULL,"splicing",NULL,NULL,NULL,"5.01112",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:29:59"
"138","73009126","TT","T","BBS4","NM_033028.4","(+)","c.341delT","p.(L114Wfs*28)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"139","122782829","C","T","BBS7","NM_176824.2","(-)","c.171G>A","p.(V57V)","silent",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"140","56548399","T","G","BBS2","NM_031885.3","(-)","c.311A>C","p.(D104A)","missense","D","D","0.89","6.29971","rs121908179",NULL,NULL,NULL,"4.118e-05","2015-09-09 11:28:48"
"141","56530894","C","G","BBS2","NM_031885.3","(-)","c.1895G>C","p.(R632P)","missense","D","D","0.95",NULL,"rs138043021",NULL,"0.0","1.1627906976744187E-4","1.153e-04","2015-09-09 11:28:48"
"142","130042642","T","G","CEP41","NM_018718.2","(-)","c.423-2A>C",NULL,"splicing",NULL,NULL,NULL,"3.10339","rs781815473",NULL,NULL,NULL,"8.236e-06","2015-09-09 11:29:59"
"143","88483212","G","C","CEP290","NM_025114.3","(-)","c.3626C>G","p.(S1209C)","missense","D","P","0.37","5.64275","rs753350609",NULL,NULL,NULL,"3.321e-05","2015-09-09 11:28:48"
"144","76741492","G","C","BBS10","NM_024685.3","(-)","c.273C>G","p.(C91W)","missense","D","D","0.62","4.72546","rs148374859",NULL,NULL,NULL,"3.295e-05","2015-09-09 11:28:48"
"145","76739644","AAC","A","BBS10 ","NM_024685.3","(-)","c.2119_2120delGT","p.(V707*fs1)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"146","170350279","A","G","BBS5","NM_152384.2","(+)","c.551A>G","p.(N184S)","missense","D","D","0.66",NULL,"rs137853921","0.002196485623003195","2.2696323195642307E-4","0.006979990693345742","4.382e-03","2015-09-09 11:28:48"
"147","76741494","A","AA","BBS10","NM_024685.3","(-)","c.271dupT","p.(C91Lfs*5)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"148","76740088","G","T","BBS10 ","NM_024685.3","(-)","c.1677C>A","p.(Y559*)","nonsense",NULL,NULL,NULL,"8.70412","rs375413604",NULL,"0.0","1.1627906976744187E-4","4.118e-05","2015-09-09 11:28:48"
"149","76741975","T","C","BBS10","NM_024685.3","(-)","c.164T>C","p.(L55P)","missense",NULL,NULL,"0.85",NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"150","76740942","ACT","A","BBS10 ","NM_024685.3","(-)","c.821_822delAG","p.(E274Vfs*29)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"151","123663402","G","A","BBS12","NM_001178007.1","(+)","c.355G>A","p.(G119S)","missense","T","D","0.52",NULL,"rs77731085","0.00439297124600639","0.011575124829777576","3.488372093023256E-4","1.754e-03","2015-09-09 11:28:48"
"152","123663834","T","C","BBS12","NM_001178007.1","(+)","c.787T>C","p.(Y263H)","missense","T","B","0.06","-1.48063","rs150040166","1.9968051118210862E-4","4.5392646391284613E-4","0.0","6.589e-05","2015-09-09 11:28:48"
"153","76740535","A","C","BBS10","NM_024685.3","(-)","c.1230T>G","p.(H410Q)","missense","T","D","0.64","1.83326",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"154","123664484","GG","G","BBS12","NM_001178007.1","(+)","c.1438delG","p.(D480Mfs*3)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"155","73029831","C","A","BBS4","NM_033028.4","(+)","c.1463C>A","p.(T488K)","missense","T","B","0.14",NULL,NULL,"5.990415335463259E-4",NULL,NULL,"5.601e-04","2015-09-09 11:28:48"
"156","66288732","TGTTTGCAGATG","T","BBS1","NM_024649.4","(+)","c.724-8_726delGTTTGCAGATG","p.(M242Rfs*83)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"157","76740879","C","T","BBS10","NM_024685.3","(-)","c.886G>A","p.(A296T)","missense","T","B","0.36","1.3172","rs150587582","1.9968051118210862E-4","2.2696323195642307E-4","8.139534883720931E-4","4.036e-04","2015-09-09 11:28:48"
"158","66290982","AT","A","BBS1","NM_024649.4","(+)","c.887delT","p.(I296Tfs*7)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"159","76739621","T","C","BBS10","NM_024685.3","(-)","c.2144A>G","p.(H715R)","missense","T","B","0.14","-3.08294","rs769179905",NULL,NULL,NULL,"5.766e-05","2015-09-09 11:28:48"
"160","56540103","G","A","BBS2","NM_031885.3","(-)","c.646C>T","p.(R216*)","nonsense",NULL,NULL,NULL,"11.3317","rs121908180",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"161","56553703","C","G","BBS2","NM_031885.3","(-)","c.72G>C","p.(Y24*)","nonsense",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"162","56540087","AG","A","BBS2","NM_031885.3","(-)","c.661delC","p.(L221Ffs*25)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"163","76741000","C","T","BBS10","NM_024685.3","(-)","c.765G>A","p.(M255I)","missense","T","B","0.23","-0.944347","rs139658279",NULL,"9.078529278256923E-4","5.813953488372093E-4","5.848e-04","2015-09-09 11:28:48"
"164","56531747","G","A","BBS2","NM_031885.3","(-)","c.1705C>T","p.(Q569*)","nonsense",NULL,NULL,NULL,"12.8322",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"165","123664270","A","G","BBS12","NM_001178007.1","(+)","c.1223A>G","p.(K408R)","missense","T","B","0.18","0.761416",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"166","56548431","T","TAAAAGGGCATCATAGCCAAGCTC","BBS2","NM_031885.3","(-)","c.256_278dup","p.(V94Sfs*8)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"167","123664618","A","G","BBS12","NM_001178007.1","(+)","c.1571A>G","p.(Y524C)","missense","D","B","0.47","2.45827","rs770746493",NULL,NULL,NULL,"8.236e-06","2015-09-09 11:28:48"
"168","10389422","T","C","MKKS","NM_018848.3","(-)","c.1015A>G","p.(I339V)","missense","T","B","0.32","-1.58346","rs137853909","0.002196485623003195","0.0","0.004534883720930232","4.299e-03","2015-09-09 11:28:48"
"169","76739898","G","A","BBS10","NM_024685.3","(-)","c.1867C>T","p.(Q623*)","nonsense",NULL,NULL,NULL,"9.78653",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"170","56530904","C","T","BBS2","NM_031885.3","(-)","c.1885G>A","p.(E629K)","missense","D","D","0.95",NULL,NULL,NULL,NULL,NULL,"4.118e-05","2015-09-09 11:28:48"
"171","76741994","G","A","BBS10","NM_024685.3","(-)","c.145C>T","p.(R49W)","missense","D","D","0.83","7.56103","rs768933093",NULL,NULL,NULL,"4.961e-05","2015-09-09 11:28:48"
"172","56532346","T","C","BBS2 ","NM_031885.3","(-)","c.1659+3A>G",NULL,"intronic",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:29:59"
"173","66297427","A","G","BBS1 ","NM_024649.4","(+)","c.1473+4A>G",NULL,"intronic",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:29:59"
"174","89336504","C","G","TTC8","NM_144596.3","(+)","c.1011C>G","p.(F337L)","missense","D","D","0.79",NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"175","33217157","G","C","BBS9","NM_198428.2","(+)","c.396G>C","p.(Q132H)","missense","T","P","0.21",NULL,NULL,"1.9968051118210862E-4",NULL,NULL,"4.942e-05","2015-09-09 11:28:48"
"176","76740163","AGGTA","A","BBS10 ","NM_024685.3","(-)","c.1598_1601delTAAC","p.(T534Ifs*21)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"177","76740674","TT","T","BBS10 ","NM_024685.3","(-)","c.1090delA","p.(N364Tfs*5)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"178","10393237","C","T","MKKS","NM_018848.3","(-)","c.926G>A","p.(R309H)","missense","T","B","0.25","-0.253848","rs199939179","1.9968051118210862E-4","0.0","1.1627906976744187E-4","4.942e-05","2015-09-09 11:28:48"
"179","76740432","G","T","BBS10","NM_024685.3","(-)","c.1333C>A","p.(L445I)","missense","T","B","0.09","-2.08187","rs199878555",NULL,NULL,NULL,"8.237e-05","2015-09-09 11:28:48"
"180","97487043","C","T","ARL6","NM_032146.4","(+)","c.92C>T","p.(T31M)","missense","D","D","0.89","6.58084","rs104893680",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"181","89307456","G","A","TTC8","NM_144596.3","(+)","c.405G>A","p.(M135I)","missense","T","B","0.27",NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"182","89307227","A","G","TTC8","NM_144596.3","(+)","c.284A>G","p.(K95R)","missense","T","B","0.14",NULL,"rs150880478","0.00718849840255591","4.5392646391284613E-4","0.004534883720930232","5.922e-03","2015-09-09 11:28:48"
"183","123665070","C","T","BBS12 ","NM_001178007.1","(+)","c.2023C>T","p.(R675*)","nonsense",NULL,NULL,NULL,"14.5927","rs752202089",NULL,NULL,NULL,"8.236e-06","2015-09-09 11:28:48"
"184","123663523","C","T","BBS12","NM_001178007.1","(+)","c.476C>T","p.(P159L)","missense","D","B","0.29","3.92466",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"185","66298426","G","A","BBS1","NM_024649.4","(+)","c.1535G>A","p.(R512H)","missense","T","D","0.59",NULL,"rs202205304","1.9968051118210862E-4","0.0","1.1641443538998836E-4","9.060e-05","2015-09-09 11:28:48"
"186","179526278","C","T","NPHS2","NM_014625.2","(-)","c.622G>A","p.(A208T)","missense","T","B","0.4","2.34609","rs200587413",NULL,NULL,NULL,"4.118e-05","2015-09-09 11:28:48"
"187","47573971","G","A","CD2AP","NM_012120.2","(+)","c.1488G>A","p.(M496I)","missense","T","P","0.37","3.14387","rs143297472","1.9968051118210862E-4","4.5392646391284613E-4","3.488372093023256E-4","1.647e-04","2015-09-09 11:28:48"
"188","36340187","G","C","NPHS1","NM_004646.3","(-)","c.791C>G","p.(P264R)","missense","T","B","0.3",NULL,"rs34982899","0.010782747603833865","0.016568315932818885","0.015697674418604653","1.409e-02","2015-09-09 11:28:48"
"189","179520511","CA","C","NPHS2","NM_014625.2","(-)","c.948delT","p.(A317Lfs*31)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"190","32413513","C","T","WT1","NM_024426_449AAs.3","(-)","c.1228+5G>A",NULL,"intronic",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:29:59"
"191","36339583","G","C","NPHS1","NM_004646.3","(-)","c.1126C>G","p.(L376V)","missense","T","D","0.36","3.70612","rs386833868",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"192","88911351","G","A","TYR","NM_000372.4","(+)","c.230G>A","p.(R77Q)","missense","D","D","0.85","6.97825","rs61753185","3.9936102236421724E-4","0.0","3.489183531053733E-4","9.884e-05","2015-09-09 11:28:48"
"193","33951770","C","T","SLC45A2","NM_016180.3","(-)","c.1045G>A","p.(G349R)","missense","D","D","0.88",NULL,"rs146930801",NULL,"0.0","2.3255813953488373E-4","1.318e-04","2015-09-09 11:28:48"
"194","88924382","C","T","TYR","NM_000372.4","(+)","c.832C>T","p.(R278*)","nonsense",NULL,NULL,NULL,"12.6853","rs62645904",NULL,NULL,NULL,"1.895e-04","2015-09-09 11:28:48"
"195","33982425","C","G","SLC45A2","NM_016180.3","(-)","c.478G>C","p.(D160H)","missense","D","D","0.83","6.18326",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"196","28000554","C","A","OCA2","NM_000275.2","(-)","c.2497G>T","p.(V833L)","missense","D","B","0.34","2.97776",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"197","33964121","C","T","SLC45A2","NM_016180.3","(-)","c.563G>A","p.(G188D)","missense","D","D","0.97","6.6569",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"198","88911467","C","T","TYR","NM_000372.4","(+)","c.346C>T","p.(R116*)","nonsense",NULL,NULL,NULL,"7.09645","rs61753256",NULL,NULL,NULL,"2.471e-05","2015-09-09 11:28:48"
"199","28228553","C","T","OCA2","NM_000275.2","(-)","c.1441G>A","p.(A481T)","missense","T","P","0.57","5.93077","rs74653330","0.007987220447284345","0.0","0.0019767441860465114","7.750e-03","2015-09-09 11:28:48"
"200","117864063","A","G","IL10RA","NM_001558.3","(+)","c.475A>G","p.(S159G)","missense","T","B","0.25","1.0773","rs3135932","0.08166932907348243","0.031136363636363636","0.1646880819366853","1.315e-01","2015-09-09 11:28:48"
"201","117869670","A","G","IL10RA","NM_001558.3","(+)","c.1051A>G","p.(R351G)","missense","T","B","0.07","-0.230798","rs2229113","0.8111022364217252","0.8081818181818182","0.6876163873370578","7.376e-01","2015-09-09 11:28:48"
"202","50757270","A","G","NOD2","NM_022162.2","(+)","c.2857A>G","p.(K953E)","missense","T","D","0.1",NULL,"rs375705174",NULL,"2.2747952684258417E-4","0.0","4.118e-05","2015-09-09 11:28:48"
"203","69255328","G","A","EDA","NM_001399.4","(+)","c.1045G>A","p.(A349T)","missense","D","D","0.79",NULL,"rs132630317",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"204","70411361","TC","T","LMBRD1 ","NM_018368.3","(-)","c.1056delG","p.(N353Ifs*18)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"205","237058770","C","T","MTR","NM_000254.2","(+)","c.3518C>T","p.(P1173L)","missense","D","D","0.92","7.72769","rs121913578",NULL,"2.2716946842344388E-4","3.4932463903120635E-4","4.131e-05","2015-09-09 11:28:48"
"206","76890119","G","T","MYO7A","NM_000260.3","(+)","c.2311G>T","p.(A771S)","missense","D","P","0.4",NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"207","56138703","C","T","PCDH15","NM_033056.3","(-)","c.158-1G>A",NULL,"splicing",NULL,NULL,NULL,"5.34779",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:29:59"
"208","69250346","G","C","EDA","NM_001399.4","(+)","c.769G>C","p.(G257R)","missense","D","P","0.47",NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"209","219754840","C","T","WNT10A","NM_02516.2","(+)","c.511C>T","p.(R171C)","missense","D","D","0.79","6.73078","rs116998555","0.003194888178913738","4.5392646391284613E-4","0.0012790697674418604","2.026e-03","2015-09-09 11:28:48"
"210","69255219","C","G","EDA","NM_001399.4","(+)","c.936C>G","p.(I312M)","missense","D","P","0.67",NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"211","68836405","GT","G","EDA","NM_001399.4","(+)","c.252delT","p.(G85Afs*6)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"212","69176937","C","T","EDA","NM_001399.4","(+)","c.457C>T","p.(R153C)","missense","D","B","0.61",NULL,"rs397516662",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"213","219754966","G","A","WNT10A","NM_02516.2","(+)","c.637G>A","p.(G213S)","missense","D","D","0.87","7.03474","rs147680216","0.0027955271565495207","2.2696323195642307E-4","0.0","1.715e-03","2015-09-09 11:28:48"
"214","36336259","G","T","NPHS1","NM_004646.3","(-)","c.1930+11C>A",NULL,"intronic",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:29:59"
"215","76551016","A","G","MYO6","NM_004999.3","(+)","c.737A>G","p.(H246R)","missense","D","D","0.98",NULL,"rs121912560",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"216","64527223","G","A","PYGM","NM_005609.2","(-)","c.148C>T","p.(R50*)","nonsense",NULL,NULL,NULL,"8.2489","rs116987552","9.98402555910543E-4","4.5433893684688776E-4","0.003141726786129858","1.367e-03","2015-09-09 11:28:48"
"217","53668099","C","T","CPT2","NM_000098.2","(+)","c.338C>T","p.(S113L)","missense","D","D","0.75","7.53783","rs74315294","5.990415335463259E-4","4.5392646391284613E-4","0.0018604651162790699","1.268e-03","2015-09-09 11:28:48"
"218","8522080","G","A","KAL1","NM_000216.2","(-)","c.1267C>T","p.(R423*)","nonsense",NULL,NULL,NULL,"8.96569",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"219","38287208","T","C","FGFR1","NM_023110.2","(-)","c.350A>G","p.(N117S)","missense","T","B","0.51","0.578306","rs780765366",NULL,NULL,NULL,"1.669e-05","2015-09-09 11:28:48"
"220","68619807","G","C","GNRHR","NM_000406.2","(-)","c.247C>G","p.(L83V)","missense","D","D","0.81","4.43348",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"221","8507740","T","C","KAL1","NM_000216.2","(-)","c.1414A>G","p.(T472A)","missense","T","B","0.21",NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"222","5294865","C","T","PROKR2","NM_144773.2","(-)","c.151G>A","p.(A51T)","missense","T","B","0.09","3.18213","rs144994507","0.006789137380191693","0.0","0.0011627906976744186","4.192e-03","2015-09-09 11:28:48"
"223","38283703","A","C","FGFR1","NM_023110.2","(-)","c.682T>G","p.(Y228D)","missense","D","D","0.95",NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"224","919933","G","A","KISS1R","NM_032551.4","(+)","c.565G>A","p.(A189T)","missense","T","B","0.08","0.31791","rs73507527","0.019968051118210862","0.042843232716650435","0.0016266266266266266","4.035e-03","2015-09-09 11:28:48"
"225","71834134","C","G","PROK2","NM_001126128.1","(-)","c.70G>C","p.(A24P)","missense","T","B","0.48",NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"226","5294673","C","T","PROKR2","NM_144773.2","(-)","c.343G>A","p.(V115M)","missense","D","D","0.2","5.52891","rs138672528","1.9968051118210862E-4","0.0","2.3255813953488373E-4","3.295e-05","2015-09-09 11:28:48"
"227","38282109","G","C","FGFR1","NM_023110.2","(-)","c.854C>G","p.(P285R)","missense","D","D","0.94",NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"228","8503847","C","T","KAL1","NM_000216.2","(-)","c.1627G>A","p.(V543I)","missense","T","B","0.1",NULL,"rs149299309",NULL,"0.0","0.0026761819803746653","1.301e-03","2015-09-09 11:28:48"
"229","61714150","C","T","CHD7","NM_017780.3","(+)","c.2440C>T","p.(Q814*)","nonsense",NULL,NULL,NULL,"12.117",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"230","38645378","G","T","SCN5A","NM_198056.2","(-)","c.1715C>A","p.(A572D)","missense","T","B","0.44","2.09154","rs36210423","0.0017971246006389776","2.446183953033268E-4","0.002387774594078319","4.290e-03","2015-09-09 11:28:48"
"231","2593319","G","A","KCNQ1","NM_000218.2","(+)","c.760G>A","p.(V254M)","missense","D","D","0.99","6.06052","rs120074179",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"232","107323898","A","G","SLC26A4","NM_000441.1","(+)","c.919-2A>G",NULL,"splicing",NULL,NULL,NULL,"4.82426","rs111033313",NULL,NULL,NULL,"3.048e-04","2015-09-09 11:29:59"
"233","160011281","G","A","KCNJ10","NM_002241.4","(-)","c.1042C>T","p.(R348C)","missense","D","P","0.14","4.0228","rs137853074","5.990415335463259E-4","0.0","1.1627906976744187E-4","2.389e-04","2015-09-09 11:28:48"
"234","107329499","T","C","SLC26A4","NM_000441.1","(+)","c.1003T>C","p.(F335L)","missense","T","D","0.69","4.54879","rs111033212","7.987220447284345E-4","0.0","0.0018604651162790699","8.649e-04","2015-09-09 11:28:48"
"235","160011742","G","T","KCNJ10","NM_002241.4","(-)","c.581C>A","p.(P194H)","missense","D","P","0.83","3.94435","rs137853073",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"236","38593010","GGAG","G","SCN5A","NM_198056.2","(-)","c.4850_4852delTCT","p.(F1617del)","deletion",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"237","2790111","C","T","KCNQ1","NM_000218.2","(+)","c.1552C>T","p.(R518*)","nonsense",NULL,NULL,NULL,"12.2527","rs17215500",NULL,"0.0","1.1630611770179111E-4","1.730e-04","2015-09-09 11:28:48"
"238","37816112","G","A","GDNF","NM_000514.3","(-)","c.277C>T","p.(R93W)","missense","D","P","0.76",NULL,"rs36119840","9.98402555910543E-4","0.0015887426236949613","0.0032558139534883722","2.207e-03","2015-09-09 11:28:48"
"239","43613914","CC","C","RET","NM_020975.4","(+)","c.2379delC","p.(C794Afs*75)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"244","75274121","C","T","GDAP1","NM_018972.2","(+)","c.487C>T","p.(Q163*)","nonsense",NULL,NULL,NULL,"12.8767","rs104894077","1.9968051118210862E-4",NULL,NULL,"1.647e-05","2015-09-09 11:28:48"
"245","12064892","G","A","MFN2","NM_014874.3","(+)","c.1403G>A","p.(R468H)","missense","T","B","0.29","5.92719","rs138382758","0.001996805111821086","9.078529278256923E-4","0.002441860465116279","2.199e-03","2015-09-09 11:28:48"
"246","76922215","C","T","MYO7A","NM_000260.3","(+)","c.6070C>T","p.(R2024*)","nonsense",NULL,NULL,NULL,"16.25","rs111033198",NULL,NULL,NULL,"1.662e-05","2015-09-09 11:28:48"
"247","76873900","G","A","MYO7A","NM_000260.3","(+)","c.1556G>A","p.(G519D)","missense","D","D","0.92",NULL,NULL,NULL,NULL,NULL,"1.651e-05","2015-09-09 11:28:48"
"248","73468926","C","T","CDH23","NM_022124.5","(+)","c.3178C>T","p.(R1060W)","missense",NULL,"D","0.5","7.56878","rs201536811",NULL,"0.0","1.1784115012962527E-4","3.715e-04","2015-09-09 11:28:48"
"249","17552955","C","CG","USH1C","NM_153676.3","(-)","c.238dupC","p.(R80fs*69)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"250","73571121","C","T","CDH23","NM_022124.5","(+)","c.9127C>T","p.(R3043W)","missense","D","P","0.63",NULL,"rs375907609",NULL,"2.4307243558580456E-4","0.0","4.131e-05","2015-09-09 11:28:48"
"251","76890090","G","T","MYO7A","NM_000260.3","(+)","c.2283-1G>T",NULL,"splicing",NULL,NULL,NULL,"3.46978","rs397516295",NULL,NULL,NULL,NULL,"2015-09-09 11:29:59"
"252","90086765","G","T","GPR98","NM_032119.3","(+)","c.14119G>T","p.(D4707Y)","missense","D","P","0.25","6.36334",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"253","89925080","T","TT","GPR98","NM_032119.3","(+)","c.1563dupT","p.(P522Sfs*8)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"254","90151630","CAT","C","GPR98","NM_032119.3","(+)","c.17668_17669delAT","p.(M5890Vfs*10)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"255","117267049","G","C","DFNB31","NM_015404.3","(-)","c.33C>G","p.(S11R)","missense","D","B","0.1","4.11688","rs45527543","5.990415335463259E-4",NULL,NULL,"4.153e-04","2015-09-09 11:28:48"
"256","76901093","C","T","MYO7A","NM_000260.3","(+)","c.3659C>T","p.(P1220L)","missense","D","D","0.81","6.75885","rs727504710",NULL,NULL,NULL,"3.404e-05","2015-09-09 11:28:48"
"257","216371818","G","C","USH2A","NM_206933.2","(-)","c.3920C>G","p.(S1307*)","nonsense",NULL,NULL,NULL,"9.92238","rs756623509",NULL,NULL,NULL,"8.237e-06","2015-09-09 11:28:48"
"258","216495263","A","G","USH2A","NM_206933.2","(-)","c.1606T>C","p.(C536R)","missense","D","D","0.26",NULL,"rs111033273",NULL,NULL,NULL,"8.237e-06","2015-09-09 11:28:48"
"259","102789810","C","CG","PDZD7","NM_001195263.1","(-)","c.166dupC","p.(R56Pfs*24)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"260","216363621","CAG","C","USH2A","NM_206933.2","(-)","c.4338_4339delCT","p.(C1447Qfs*29)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"261","216348702","ACTCT","A","USH2A","NM_206933.2","(-)","c.4515_4518del","p.(R1505Sfs*7)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"262","89028411","T","TT","TYR","NM_000372.4","(+)","c.1467dupT","p.(A490Cfs*20)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"263","102772017","T","C","PDZD7","NM_001195263.1","(-)","c.1750-2A>G",NULL,"splicing",NULL,NULL,NULL,"4.91137","rs747536638",NULL,NULL,NULL,NULL,"2015-09-09 11:29:59"
"264","90144570","TG","T","GPR98","NM_032119.3","(+)","c.17137delG","p.(A5713Lfs*3)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"265","102770442","GGGGGTGTGCA","G","PDZD7","NM_001195263.1","(-)","c.2194_2203del","p.(C732Lfs*18)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"266","57135235","T","C","IL17RD","NM_017563.3","(-)","c.1136A>G","p.(Y379C)","missense","T","D","0.6",NULL,"rs369641068",NULL,"0.0","1.1627906976744187E-4","9.060e-05","2015-09-09 11:28:48"
"267","38279354","C","T","FGFR1","NM_023110.2","(-)","c.1042G>A","p.(G348R)","missense","D","D","0.94","7.10981",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"268","57130437","G","A","IL17RD","NM_017563.3","(-)","c.2204C>T","p.(A735V)","missense","D","B","0.06","4.00726","rs587776979",NULL,NULL,NULL,"7.413e-05","2015-09-09 11:28:48"
"269","919949","C","A","KISS1R","NM_032551.4","(+)","c.581C>A","p.(A194D)","missense","T","B","0.19","3.84489","rs397514699",NULL,NULL,NULL,"4.323e-05","2015-09-09 11:28:48"
"270","89744658","G","A","DUSP6","NM_001946.2","(-)","c.545C>T","p.(S182F)","missense","D","D","0.63","4.57786","rs139318648",NULL,"0.0","0.0015116279069767441","7.001e-04","2015-09-09 11:28:48"
"271","38271781","T","C","FGFR1","NM_023110.2","(-)","c.2075A>G","p.(E692G)","missense","D","D","0.96","5.92874","rs397515445",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"272","89744637","T","C","DUSP6","NM_001946.2","(-)","c.566A>G","p.(N189S)","missense","T","B","0.07","-1.03585","rs143946794",NULL,"2.2696323195642307E-4","4.6511627906976747E-4","1.812e-04","2015-09-09 11:28:48"
"273","141694021","G","T","SPRY4","NM_030964.3","(-)","c.722C>A","p.(S241Y)","missense","D","D","0.9","5.8388","rs139512218","0.0023961661341853034","6.808896958692692E-4","0.006162790697674419","4.571e-03","2015-09-09 11:28:48"
"274","89743140","G","A","DUSP6","NM_001946.2","(-)","c.1037C>T","p.(T346M)","missense","T","B","0.61",NULL,"rs146089505","1.9968051118210862E-4","0.0","2.3255813953488373E-4","2.389e-04","2015-09-09 11:28:48"
"275","38275493","G","T","FGFR1","NM_023110.2","(-)","c.1447C>A","p.(P483T)","missense","D","D","0.87",NULL,"rs397515444",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"276","38272117","C","T","FGFR1","NM_023110.2","(-)","c.2008G>A","p.(E670K)","missense","D","D","0.96","8.02686","rs397515446",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"277","14307948","G","T","FLRT3","NM_198391.2","(-)","c.205C>A","p.(Q69K)","missense","T","B","0.06","1.48863","rs398124653",NULL,NULL,NULL,"2.471e-05","2015-09-09 11:28:48"
"278","33582046","C","T","MYH7B","NM_020884.4","(+)","c.2668C>T","p.(R890C)","missense","D","P","0.71",NULL,"rs186471205","0.004193290734824281","0.0029282576866764276","0.014611546685673557","1.041e-02","2015-09-09 11:28:48"
"279","56086993","C","T","ITGA7","NM_001144996.1","(-)","c.2656G>A","p.(E882K)","missense","T","B","0.25",NULL,"rs144983062","0.0011980830670926517","6.808896958692692E-4","0.0038372093023255815","4.003e-03","2015-09-09 11:28:48"
"280","121432125","C","CC","HNF1A ","NM_000545.5","(+)","c.872dup","p.(G292Rfs*25)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"281","43042348","C","T","HNF4A","NM_000457.3","(+)","c.400C>T","p.(R127W)","missense","D","D","0.98",NULL,"rs370239205",NULL,"0.0","1.1627906976744187E-4","1.647e-05","2015-09-09 11:28:48"
"282","36333453","C","T","NPHS1","NM_004646.3","(-)","c.2335-1G>A",NULL,"splicing",NULL,NULL,NULL,"4.93879","rs150038620",NULL,"0.0","6.976744186046512E-4","5.765e-05","2015-09-09 11:29:59"
"283","179526214","C","T","NPHS2","NM_014625.2","(-)","c.686G>A","p.(R229Q)","missense","T","B","0.71","6.09107","rs61747728","0.01457667731629393","0.007716749886518384","0.03755813953488372","2.913e-02","2015-09-09 11:28:48"
"284","36341311","T","A","NPHS1","NM_004646.3","(-)","c.563A>T","p.(N188I)","missense","T","B","0.3","2.09748","rs145125791","0.003993610223642172","0.0015887426236949613","0.009767441860465116","6.186e-03","2015-09-09 11:28:48"
"285","179530438","CT","C","NPHS2","NM_014625.2","(-)","c.436delA","p.(R146Efs*35)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"286","69176946","C","T","EDA","NM_001399.4","(+)","c.466C>T","p.(R156C)","missense","D","B","0.73",NULL,"rs132630313",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"287","215847937","G","A","USH2A","NM_206933.2","(-)","c.13316C>T","p.(T4439I)","missense","D","D","0.45","5.89956","rs753330544",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"288","56544802","A","AA","BBS2","NM_031885.3","(-)","c.503dup","p.(L168Ffs*3 )","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"289","10386113","A","C","MKKS","NM_018848.3","(-)","c.1495T>G","p.(C499S)","missense","D","D","0.76","4.00767",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"290","56536365","C","T","BBS2","NM_031885.3","(-)","c.944G>A","p.(R315Q)","missense","D","D","0.85","7.49268","rs544773389",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"291","56553655","C","G","BBS2","NM_031885.3","(-)","c.117+1G>C",NULL,"splicing",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:29:59"
"292","38274936","T","C","FGFR1","NM_023110.2","(-)","c.1553-2A>G",NULL,"splicing",NULL,NULL,NULL,"4.95806",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:29:59"
"293","8503715","C","A","KAL1","NM_000216.2","(-)","c.1759G>T","p.(V587L)","missense","T","D","0.11",NULL,"rs137900287","0.0010596026490066225","5.215123859191656E-4","0.0038673211363974415","2.125e-03","2015-09-09 11:28:48"
"294","153608076","AAGA","A","EMD","NM_000117.2","(+)","c.110_112delAGA","p.(K37del)","deletion",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"295","156105059","C","T","LMNA","NM_170707.3","(+)","c.892C>T","p.(R298C)","missense","D","D","0.97",NULL,"rs59885338",NULL,NULL,NULL,"4.119e-05","2015-09-09 11:28:48"
"296","72358167","G","A","PRF1","NM_001083116.1","(-)","c.1310C>T","p.(A437V)","missense","D","D","0.78","4.98855","rs138126912","5.990415335463259E-4","0.0","9.302325581395349E-4","8.072e-04","2015-09-09 11:28:48"
"297","73839332","C","A","UNC13D","NM_199242.2","(-)","c.169G>T","p.(E57*)","nonsense",NULL,NULL,NULL,"11.1993",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"298","72360387","G","A","PRF1","NM_001083116.1","(-)","c.272C>T","p.(A91V)","missense","D","D","0.78","5.40661","rs35947132","0.013178913738019169","0.009305492510213346","0.04627906976744186","3.054e-02","2015-09-09 11:28:48"
"299","73826653","C","A","UNC13D","NM_199242.2","(-)","c.2709+6G>T",NULL,"intronic",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:29:59"
"300","72358485","G","A","PRF1","NM_001083116.1","(-)","c.992C>T","p.(S331L)","missense","D","D","0.92","5.1935","rs769364825",NULL,NULL,NULL,"1.647e-05","2015-09-09 11:28:48"
"301","73832719","C","T","UNC13D","NM_199242.2","(-)","c.1232G>A","p.(R411Q)","missense","T","B","0.45","3.5065","rs200109035","7.987220447284345E-4","0.0","1.1627906976744187E-4","5.848e-04","2015-09-09 11:28:48"
"302","73839274","G","A","UNC13D","NM_199242.2","(-)","c.227C>T","p.(T76M)","missense","T","B","0.1",NULL,"rs78028658","9.98402555910543E-4","0.006808896958692692","0.0","4.944e-04","2015-09-09 11:28:48"
"303","73836181","G","A","UNC13D","NM_199242.2","(-)","c.869C>T","p.(S290L)","missense","T","B","0.15",NULL,"rs202020396","1.9968051118210862E-4",NULL,NULL,"8.244e-05","2015-09-09 11:28:48"
"304","73830461","G","A","UNC13D","NM_199242.2","(-)","c.2243C>T","p.(A748V)","missense","T","B","0.14","1.41975","rs375724532","1.9968051118210862E-4","0.0","2.3315458148752622E-4","8.333e-05","2015-09-09 11:28:48"
"305","72358248","C","T","PRF1","NM_001083116.1","(-)","c.1229G>A","p.(R410Q)","missense","T","B","0.26","3.39113","rs150558419",NULL,"2.2706630336058128E-4","0.0","5.027e-04","2015-09-09 11:28:48"
"306","73835939","C","T","UNC13D","NM_199242.2","(-)","c.1036G>A","p.(D346N)","missense","T","P","0.2",NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"307","73824159","T","C","UNC13D","NM_199242.2","(-)","c.3160A>G","p.(I1054V)","missense","T","B","0.11","1.33544","rs150952348","1.9968051118210862E-4","2.295684113865932E-4","2.3386342376052386E-4","2.682e-04","2015-09-09 11:28:48"
"308","72360649","G","A","PRF1","NM_001083116.1","(-)","c.10C>T","p.(R4C)","missense","D","B","0.16","2.03948","rs12161733","0.0027955271565495207","0.002751031636863824","1.1723329425556858E-4","8.062e-04","2015-09-09 11:28:48"
"309","73824087","C","G","UNC13D","NM_199242.2","(-)","c.3232G>C","p.(A1078P)","missense","T","P","0.24","4.45465","rs761698730",NULL,NULL,NULL,"8.333e-06","2015-09-09 11:28:48"
"310","73826167","G","A","UNC13D","NM_199242.2","(-)","c.2896C>T","p.(R966W)","missense","D","D","0.55","6.96213","rs118049905","0.0017971246006389776","0.0011420740063956144","0.007104588865595155","4.376e-03","2015-09-09 11:28:48"
"311","72360608","CA","C","PRF1","NM_001083116.1","(-)","c.50delT","p.(L17Rfs*34)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"312","73831953","G","A","UNC13D","NM_199242.2","(-)","c.1579C>T","p.(R527W)","missense","D","P","0.47",NULL,"rs75366116","0.019169329073482427","0.05242850658193373","2.3255813953488373E-4","5.238e-03","2015-09-09 11:28:48"
"313","72360214","C","T","PRF1","NM_001083116.1","(-)","c.445G>A","p.(G149S)","missense","D","D","0.84","6.00772","rs147462227","1.9968051118210862E-4","0.0","1.1627906976744187E-4","1.400e-04","2015-09-09 11:28:48"
"314","73839319","T","C","UNC13D","NM_199242.2","(-)","c.182A>G","p.(Y61C)","missense","T","D","0.71",NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"315","7708058","C","T","STXBP2","NM_006949.3","(+)","c.1034C>T","p.(T345M)","missense","D","D","0.44",NULL,"rs117761837","0.004592651757188498","0.003404448479346346","0.016162790697674418","1.086e-02","2015-09-09 11:28:48"
"316","72358822","A","T","PRF1","NM_001083116.1","(-)","c.655T>A","p.(Y219N)","missense","D","D","0.92","5.69257",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"317","7712287","G","C","STXBP2","NM_006949.3","(+)","c.1586G>C","p.(R529P)","missense","D","D","0.47",NULL,"rs35490401",NULL,"0.0","0.0025617140195621797","1.574e-03","2015-09-09 11:28:48"
"318","7712054","G","A","STXBP2","NM_006949.3","(+)","c.1459G>A","p.(V487M)","missense","D","P","0.22",NULL,"rs150174842","5.990415335463259E-4","0.007976298997265268","1.1695906432748539E-4","4.952e-04","2015-09-09 11:28:48"
"319","7707311","C","T","STXBP2","NM_006949.3","(+)","c.795-4C>T",NULL,"intronic",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:29:59"
"320","7707660","C","T","STXBP2","NM_006949.3","(+)","c.911C>T","p.(T304M)","missense","D","D","0.43",NULL,"rs200135215",NULL,NULL,NULL,"1.153e-04","2015-09-09 11:28:48"
"321","73832419","C","T","UNC13D","NM_199242.2","(-)","c.1389+1G>A",NULL,"splicing",NULL,NULL,NULL,"3.77732","rs777759523",NULL,NULL,NULL,"4.942e-05","2015-09-09 11:29:59"
"322","7712708","G","A","STXBP2","NM_006949.3","(+)","c.*12G>A",NULL,"intronic",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:29:59"
"323","7707140","C","T","STXBP2","NM_006949.3","(+)","c.715C>T","p.(P239S)","missense","T","P","0.7",NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"324","73830760","A","G","UNC13D","NM_199242.2","(-)","c.2030T>C","p.(I677T)","missense","D","P","0.45",NULL,NULL,NULL,NULL,NULL,"1.648e-05","2015-10-02 11:26:28"
"325","144507985","C","T","STX11","NM_003764.3","(+)","c.221C>T","p.(T74M)","missense","D","D","0.17","5.32184","rs540150447","0.003594249201277955",NULL,NULL,"1.038e-03","2015-09-09 11:28:48"
"326","7706729","C","T","STXBP2","NM_006949.3","(+)","c.568C>T","p.(R190C)","missense","T","D","0.82",NULL,"rs370053399","1.9968051118210862E-4","0.0","3.662109375E-4","2.144e-04","2015-09-09 11:28:48"
"327","144507773","C","A","STX11","NM_003764.3","(+)","c.9C>A","p.(D3E)","missense","D","D","0.2","5.66693","rs754278775",NULL,NULL,NULL,"3.295e-05","2015-09-09 11:28:48"
"328","55520855","A","C","RAB27A","NM_183234.2","(-)","c.295T>G","p.(F99V)","missense","D","D","0.85","6.09402",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"329","5294762","C","A","PROKR2","NM_144773.2","(-)","c.254G>T","p.(R85L)","missense","D","D","0.58","7.143","rs74315418","5.990415335463259E-4",NULL,NULL,"3.130e-04","2015-09-09 11:28:48"
"330","38273432","C","T","FGFR1","NM_023110.2","(-)","c.1810G>A","p.(A604T)","missense","T","P","0.71","6.37427",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"331","5283039","G","A","PROKR2","NM_144773.2","(-)","c.802C>T","p.(R268C)","missense","D","D","0.59","6.7281","rs78861628","0.012579872204472844","0.04221516114389469","5.813953488372093E-4","4.687e-03","2015-09-09 11:28:48"
"332","5282850","C","T","PROKR2","NM_144773.2","(-)","c.991G>A","p.(V331M)","missense","T","B","0.11","1.90796","rs117106081","0.012180511182108627","0.0","2.3255813953488373E-4","6.531e-03","2015-09-09 11:28:48"
"333","68610309","C","T","GNRHR","NM_000406.2","(-)","c.719G>A","p.(R240Q)","missense","T","B","0.38","1.07394","rs182531866","0.0013977635782747603",NULL,NULL,"4.365e-04","2015-09-09 11:28:48"
"334","89864147","T","C","POLG","NM_002693.2","(-)","c.2831A>G","p.(E944G)","missense","D","D","0.91","6.13721",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"335","102749109","T","C","C10orf2","NM_021830.4","(+)","c.1142T>C","p.(L381P)","missense","D","D","0.47",NULL,"rs111033577",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"336","43809151","TG","T","TMPRSS3","NM_024022.2","(-)","c.208delC","p.(H70Tfs*19)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"337","20763685","AC","A","GJB2","NM_004004.5","(-)","c.35delG","p.(G12Vfs*2)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"338","7572112","A","C","DSP","NM_004415.2","(+)","c.1941A>C","p.(Q647H)","missense","D","B","0.34","3.00941",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"339","179571381","G","C","TTN","NM_001256850.1","(-)","c.28269C>G","p.(N9423K)","missense","D","P",NULL,NULL,NULL,NULL,NULL,NULL,"8.275e-06","2015-09-09 11:28:48"
"340","23886722","T","A","MYH7","NM_000257.2","(-)","c.4343A>T","p.(N1448I)","missense","D","P","0.84","6.51267","rs753484341",NULL,NULL,NULL,"1.153e-04","2015-09-09 11:28:48"
"341","78392229","A","G","NEXN","NM_144573.3","(+)","c.620A>G","p.(D207G)","missense","D","P","0.04","2.75855","rs570946423","1.9968051118210862E-4",NULL,NULL,"2.484e-05","2015-09-09 11:28:48"
"342","23894012","T","C","MYH7","NM_000257.2","(-)","c.2645A>G","p.(Q882R)","missense","D","D","0.83","5.51378",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"343","112572217","C","T","RBM20","NM_001134363.2","(+)","c.2062C>T","p.(R688*)","nonsense",NULL,NULL,NULL,"9.44179","rs794729150",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"344","7542186","C","T","DSP","NM_004415.2","(+)","c.38C>T","p.(T13I)","missense",NULL,NULL,"0.31",NULL,NULL,"1.9968051118210862E-4",NULL,NULL,"4.147e-05","2015-09-09 11:28:48"
"345","39920993","C","T","JUP","NM_021991.2","(-)","c.1130G>A","p.(R377H)","missense","D","D","0.53","7.71068","rs200433530","1.9968051118210862E-4",NULL,NULL,"3.295e-05","2015-09-09 11:28:48"
"346","7568685","A","AA","DSP","NM_004415.2","(+)","c.1282_1283insA","p.(I428Nfs*3)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"347","39919339","G","A","JUP","NM_021991.2","(-)","c.1393C>T","p.(R465C)","missense","D","D","0.85","7.54949","rs782513393",NULL,NULL,NULL,"1.647e-05","2015-09-09 11:28:48"
"350","203417496","C","T","BMPR2","NM_001204.6","(+)","c.1471C>T","p.(R491W)","missense","D","D","0.66","7.84139","rs137852746",NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"351","5154760","TA","T","KCNA5","NM_002234.3","(+)","c.1448del","p.(Y483Sfs*4)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"352","182545307","C","T","NEUROD1","NM_002500.4","(-)","c.-162G>A",NULL,"intronic",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:29:59"
"353","28498656","G","A","PDX1","NM_000209.3","(+)","c.670G>A","p.(E224K)","missense","D","B","0.49","3.97433","rs137852787","0.003194888178913738",NULL,NULL,"1.507e-03","2015-09-09 11:28:48"
"354","182542865","G","C","NEUROD1","NM_002500.4","(-)","c.723C>G","p.(H241Q)","missense","T","P","0.45","1.4622","rs561017686","0.0017971246006389776",NULL,NULL,"9.884e-04","2015-09-09 11:28:48"
"356","89941910","T","G","GPR98","NM_032119.3","(+)","c.3022+2T>G",NULL,"splicing",NULL,NULL,NULL,"5.33668",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:29:59"
"357","102789899","GGA","G","PDZD7","NM_001195263.1","(-)","c.76_77del","p.(S26Lfs*53)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"358","71821916","G","A","PROK2","NM_001126128.1","(-)","c.349C>T","p.(R117W)","missense","D","D","0.9",NULL,NULL,NULL,NULL,NULL,"2.471e-05","2015-09-09 11:28:48"
"359","68619786","C","T","GNRHR","NM_000406.2","(-)","c.268G>A","p.(E90K)","missense","D","D","0.26",NULL,"rs104893844",NULL,NULL,NULL,"3.295e-05","2015-09-09 11:28:48"
"360","21981967","C","T","ABCC9","NM_005691.3","(-)","c.3594G>A","p.(M1198I)","missense","T","B","0.46","2.22765","rs199900459",NULL,NULL,NULL,"1.071e-04","2015-09-09 11:28:48"
"361","179632598","C","T","TTN","NM_001256850.1","(-)","c.9359G>A","p.(R3120Q)","missense","D","P",NULL,NULL,"rs72647894","0.001597444089456869","9.078529278256923E-4","0.004418604651162791","4.390e-03","2015-09-09 11:28:48"
"362","179404550","G","A","TTN","NM_001256850.1","(-)","c.93319C>T","p.(R31107C)","missense","D","D",NULL,NULL,"rs72648272","0.0013977635782747603","4.945598417408506E-4","0.004066012915570438","4.035e-03","2015-09-09 11:28:48"
"363","78395131","A","C","NEXN","NM_144573.3","(+)","c.995A>C","p.(E332A)","missense","D","B","0.2","3.62781","rs201763096","0.003194888178913738","0.001078167115902965","0.002443195699975568","3.973e-03","2015-09-09 11:28:48"
"364","179639081","C","T","TTN","NM_001256850.1","(-)","c.6910G>A","p.(V2304M)","missense","D","P",NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"365","179486037","C","A","TTN","NM_001256850.1","(-)","c.40485G>T","p.(K13495N)","missense","D","P",NULL,NULL,"rs72677225","0.002196485623003195","5.482456140350877E-4","0.00859106529209622","4.567e-03","2015-09-09 11:28:48"
"366","152815061","G","A","ATP2B3","NM_001001344.2","(+)","c.1445G>A","p.(R482H)","missense","D","P","0.34","7.13099",NULL,NULL,NULL,NULL,NULL,"2015-09-09 11:28:48"
"367","6978311","G","A","LAMA1","NM_005559.3","(-)","c.6074C>T","p.(T2025M)","missense","D","D","0.05","4.24616","rs369357135",NULL,NULL,NULL,"4.942e-05","2015-09-09 11:28:48"
"368","6965341","G","A","LAMA1","NM_005559.3","(-)","c.7141C>T","p.(R2381C)","missense","D","D","0.53","8.01804","rs142063208","0.0027955271565495207","4.5392646391284613E-4","0.0016279069767441861","2.405e-03","2015-09-09 11:28:48"
"369","7563982","C","T","DSP","NM_004415.2","(+)","c.740C>T","p.(A247V)","missense",NULL,NULL,"0.39",NULL,NULL,"1.9968051118210862E-4",NULL,NULL,"3.295e-05","2015-09-09 11:28:48"
"370","42689519","A","G","PRPH2","NM_000322.4","(-)","c.554T>C","p.(L185P)","missense","D","D","0.81","5.86347","rs121918563",NULL,NULL,NULL,NULL,"2015-09-18 14:42:46"
"371","62380922","G","GG","ROM1","NM_000327.3","(+)","c.239dup","p.(V81Cfs*51)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-18 11:25:29"
"372","62381092","G","GG","ROM1","NM_000327.3","(+)","c.339dup","p.(L114Afs*18)","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2015-09-18 11:25:15"
"373","102748968","G","A","C10orf2","NM_021830.4","(+)","c.1001G>A","p.R334Q","missense","T","P","0.19",NULL,"rs28937887",NULL,NULL,NULL,NULL,"2015-09-18 14:08:29"
"374","27521582","G","A","TRIM54","NM_032546.3","(+)","c.[316G>A]","p.D106N","missense","D","D",NULL,"6.9416","rs140219939","1.9968051118210862E-4","0.0","6.976744186046512E-4","2.800e-04","2017-06-27 16:06:55"
"375","32810790","G","A","PSMB8","NM_148919.3","(-)","c.[224C>T]","p.T75M","missense","D","D",NULL,"7.0776","rs748082671",NULL,NULL,NULL,"4.171e-05","2017-06-28 09:07:52"
"377","151372107","G","GG","PSMB4","NM_002796.2","(+)","c.[44insG]","p.P16Sfs*45","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"378","151373804","C","A","PSMB4","NM_002796.2","(+)","c.[666C>A]","p.Y222*","nonsense",NULL,NULL,NULL,"11.9937",NULL,NULL,NULL,NULL,NULL,"2017-06-28 09:18:26"
"379","123177428","A","G","CDK5RAP2","NM_018249.5","(-)","c.[4187T>C]","p.M1397T","missense",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"380","228148573","G","T","COL4A3","NM_000091.4","(+)","c.[2746+1G>T]",NULL,"splicing",NULL,NULL,NULL,"3.73465",NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:15:24"
"381","228120751","G","A","COL4A3","NM_000091.4","(+)","c.[898G>A]","p.G300R","missense","D","D",NULL,"6.14211","rs772708743",NULL,NULL,NULL,"2.483e-05","2017-06-27 16:09:45"
"382","228134679","G","C","COL4A3","NM_000091.4","(+)","c.[1558G>C]","p.G520R","missense","D","D",NULL,"5.3648",NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"383","228131805","G","A","COL4A3","NM_000091.4","(+)","c.[1504+1G>A]",NULL,"splicing",NULL,NULL,NULL,"2.84621",NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:15:24"
"384","228142209","G","A","COL4A3","NM_000091.4","(+)","c.[2065G>A]","p.G689R","missense","D","D",NULL,"4.5963",NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"385","227896660","C","A","COL4A4","NM_000092.4","(-)","c.[3817+1G>T]",NULL,"splicing",NULL,NULL,NULL,"5.4098",NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:15:24"
"386","227924941","C","A","COL4A4","NM_000092.4","(-)","c.[2075G>T]","p.G692V","missense","D","D",NULL,"6.37709",NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"387","227924852","C","T","COL4A4","NM_000092.4","(-)","c.[2164G>A]","p.G722S","missense","D","D",NULL,"6.26798",NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"388","227953364","C","A","COL4A4","NM_000092.4","(-)","c.[1623+5G>T]",NULL,"intronic",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:15:24"
"389","39536404","C","G","SEC23A","NM_006364.2","(-)","c.[1200G>C]","p.M400I","missense",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"390","10480386","G","GA","RP1L1","NM_178857.5","(-)","c.[326_327insT]","p.K111Qfs*27","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"391","155595943","G","T","SHH","NM_000193.2","(-)","c.[1040C>A]","p.P347Q","missense","D","D",NULL,"5.94415",NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"392","10464491","G","A","RP1L1","NM_178857.5","(-)","c.[7117C>T]","p.Q2373*","nonsense",NULL,NULL,NULL,"9.88062","rs759654067",NULL,NULL,NULL,"8.274e-06","2017-06-27 16:09:45"
"393","3293310","A","G","MEFV","NM_000243.2","(-)","c.[2177T>C]","p.V726A","missense","T","B",NULL,"-2.32956","rs28940579","1.9968051118210862E-4","2.275830678197542E-4","0.002674418604651163","1.845e-03","2017-06-28 09:18:26"
"394","3304626","C","G","MEFV","NM_000243.2","(-)","c.[442G>C]","p.E148Q","missense","D","P",NULL,"3.68042","rs3743930","0.12639776357827476","0.010396975425330813","0.011611204213550394","7.156e-02","2017-06-27 16:09:45"
"395","3293407","T","C","MEFV","NM_000243.2","(-)","c.[2080A>G]","p.M694V","missense","T","B",NULL,"-1.08288","rs61752717","1.9968051118210862E-4","0.0","3.488372093023256E-4","2.306e-04","2017-06-27 16:09:45"
"396","228163475","G","A","COL4A3","NM_000091.3","(+)","c.[3829G>A]","p.G1277S","missense","D","D",NULL,"3.87965","rs190598500","5.990415335463259E-4","0.0","2.4342745861733204E-4","3.393e-04","2017-06-27 16:09:45"
"399","228173675","A","G","COL4A3","NM_000091.3","(+)","c.[4523A>G]","p.N1508S","missense","D","B",NULL,"3.01649","rs200512461",NULL,"0.0","8.470474346563407E-4","2.151e-04","2017-06-27 16:09:45"
"400","227966329","T","C","COL4A4","NM_000092.4","(-)","c.[976-56A>G]",NULL,"intronic",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:15:24"
"401","228162515","G","A","COL4A3","NM_000091.3","(+)","c.[3691G>A]","p.G1231S","missense","D","D",NULL,"4.18556","rs761518401",NULL,NULL,NULL,"1.676e-05","2017-06-27 16:09:45"
"402","39740058","A","G","KRT14","NM_000526.4","(-)","c.[881T>C]","p.M294T","missense","D","P",NULL,"5.44399","rs200836945",NULL,"0.0","1.1627906976744187E-4","3.295e-05","2017-06-27 16:09:45"
"403","39740124","A","G","KRT14","NM_000526.4","(-)","c.[815T>C]","p.M272T","missense","D","P",NULL,"5.07192","rs61371557",NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"404","45741416","T","A","SMC1B","NM_148674.4","(-)","c.[3530A>T]","p.Q1177L","missense",NULL,NULL,NULL,NULL,NULL,"0.010982428115015975","0.04096194503171247","0.0","3.186e-03","2017-06-27 16:09:45"
"405","24642619","A","G","REC8","NM_005132.2","(+)","c.[461A>G]","p.Q154R","missense",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"406","138665552","A","T","FOXL2","NM_023067.3","(-)","c.[13T>A]","p.Y5N","missense","D","D",NULL,"3.66348",NULL,NULL,NULL,NULL,NULL,"2017-06-28 09:18:26"
"407","71017649","G","A","FIGLA","NM_001004311.3","(-)","c.[122C>T]","p.A41V","missense","T","B",NULL,"4.53476",NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:06:55"
"408","144096892","T","G","NOBOX","NM_001080413.3","(-)","c.[1112A>C]","p.K371T","missense","D","P",NULL,"1.64981","rs189306575","9.98402555910543E-4","0.001272264631043257","0.0","1.985e-04","2017-06-27 16:09:45"
"409","45798405","A","G","SMC1B","NM_148674.4","(-)","c.[662T>C]","p.I221T","missense","D","B",NULL,"2.38146","rs755292878",NULL,NULL,NULL,"1.655e-05","2017-06-27 16:09:45"
"410","144098983","C","A","NOBOX","NM_001080413.3","(-)","c.[271G>T]","p.G91W","missense","T","D",NULL,"1.49814","rs77587352","0.008586261980830671","0.02931769722814499","1.2168410805548795E-4","2.409e-03","2017-06-27 16:09:45"
"411","141381176","A","G","TRAPPC9","NM_031466.6","(-)","c.[1532T>C]","p.M511T","missense",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"412","27158085","A","C","TEK","NM_000459.4","(+)","c.[309A>C]","p.E103D","missense",NULL,NULL,NULL,NULL,NULL,"5.990415335463259E-4",NULL,NULL,"8.978e-04","2017-06-27 16:09:45"
"413","27168571","T","C","TEK","NM_000459.4","(+)","c.[443T>C]","p.I148T","missense",NULL,NULL,NULL,NULL,NULL,"0.03514376996805112","0.017930095324557423","5.813953488372093E-4","1.661e-02","2017-06-27 16:09:45"
"414","27172626","A","C","TEK","NM_000459.4","(+)","c.[641A>C]","p.Q214P","missense",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"415","27204927","G","C","TEK","NM_000459.4","(+)","c.[2228G>C]","p.G743A","missense","T","B",NULL,"0.423153","rs202131936","5.990415335463259E-4","2.2696323195642307E-4","1.1627906976744187E-4","2.800e-04","2017-06-27 16:09:45"
"416","5294763","G","A","PROKR2","NM_144773.2","(-)","c.[253C>T]","p.R85C","missense","D","D",NULL,"6.65543","rs141090506","5.990415335463259E-4",NULL,NULL,"5.024e-04","2017-06-28 09:18:26"
"417","20763234","T","C","GJB2","NM_004004.5","(-)","c.[487A>G]","p.M163V","missense","T","P",NULL,"1.65103","rs80338949","3.9936102236421724E-4",NULL,NULL,"1.647e-04","2017-06-27 16:09:45"
"418","6449797","C","T","EYS","NM_001142800","(-)","c.[7723+1G>A]",NULL,"splicing",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:15:24"
"419","227872783","G","C","COL4A4","NM_000092.4","(-)","c.[4760C>G]","p.P1587R","missense","T","P",NULL,"-0.229803","rs190148408","0.0011980830670926517","7.708119218910585E-4","0.0032632342277012327","1.795e-03","2017-06-27 16:09:45"
"421","26384973","G","A","TRIM63","NM_032588.3","(-)","c.[739C>T]","p.Q247*","nonsense",NULL,NULL,NULL,"11.873","rs148395034","1.9968051118210862E-4","0.0","6.976744186046512E-4","4.859e-04","2017-06-27 16:09:45"
"422","58737688","TAAG","T","PSMA3","NM002788.3","(+)","c.[696_698delAAG]","p.R233del","deletion",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"423","58724718","T","G","PSMA3","NM002788.3","(+)","c.[404+2T>G]","p.H111Ffs*10","frameshift",NULL,NULL,NULL,"5.22611",NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"424","32826244","G","A","PSMB9","NM_002800.4","(+)","c.[494G>A]","p.G165D","missense","T","B",NULL,"3.05836","rs369359789",NULL,"3.3090668431502316E-4","0.0","3.404e-05","2017-06-27 16:09:45"
"425","32810543","T","G","PSMB8","NM_148919.3","(-)","c.[313A>C]","p.K105Q","missense","D","D",NULL,"6.23125",NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"426","49048432","AAA","AT","CEP152","NM_001194998.1","(-)","c.[3014_3015delAAinsT]","p.K1005Ifs*16","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"427","227953439","C","T","COL4A4","NM_000092.4","(-)","c.[1553G>A]","p.G518E","missense","D","D",NULL,"5.93712",NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"428","227906917","C","G","COL4A4","NM_000092.4","(-)","c.[3452G>C]","p.G1151A","missense","D","D",NULL,"4.56778","rs371803356",NULL,"0.0","2.44140625E-4","4.139e-05","2017-06-27 16:09:45"
"429","227872844","CA","C","COL4A4","NM_000092.4","(-)","c.[4698delT]","p.C1566Wfs*37","frameshift",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:06:55"
"430","227958899","CTTCCCTGGTTTTCCTGGA","C","COL4A4","NM_000092.4","(-)","c.[1293_1310del]","p.K434_G439del","deletion",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"431","227954583","C","T","COL4A4","NM_000092.4","(-)","c.[1459+1G>A]",NULL,"splicing",NULL,NULL,NULL,"5.31866","rs753818949",NULL,NULL,NULL,"8.278e-06","2017-06-27 16:15:24"
"432","107865996","G","T","COL4A5","NM_033380.2","(+)","c.[2858G>T]","p.G953V","missense","D","D",NULL,"4.3892","rs78972735","0.007947019867549669","5.215123859191656E-4","0.0","3.418e-03","2017-06-27 16:09:45"
"433","107842083","G","A","COL4A5","NM_033380.2","(+)","c.[1931G>A]","p.G644D","missense","D","D",NULL,"5.0237",NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"434","107924141","G","A","COL4A5","NM_033380.2","(+)","c.[4042G>A]","p.G1348R","missense","D","D",NULL,"6.34497",NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"435","107845124","G","T","COL4A5","NM_033380.2","(+)","c.[2051G>T]","p.G864V","missense","D","D",NULL,"4.77913","rs104886160",NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"436","39995540","C","T","MAN1B1","NM_016219.4","(+)","c.[1000C>T]","p.R334C","missense",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2017-06-27 15:41:13"
"437","29295593","G","T","C2orf71","NM_001029883.2","(-)","c.[1535C>A]","p.S512*","nonsense",NULL,NULL,NULL,"10.5095",NULL,NULL,NULL,NULL,NULL,"2017-06-28 09:18:26"
"438","223178026","T","C","DISP1","NM_032890.3","(+)","c.[3287T>C]","p.M1096T","missense","D","B",NULL,"3.68783","rs144673025","0.0013977635782747603","0.0013617793917385383","0.007558139534883721","6.194e-03","2017-06-27 16:09:45"
"439","70008431","C","T","MITF","NM_198159.2","(+)","c.[1021C>T]","p.R341C","missense","D","D",NULL,"8.03536",NULL,NULL,NULL,NULL,NULL,"2017-06-28 09:18:26"
"440","247587343","G","A","NLRP3","NM_001243133.1","(+)","c.[592G>A]","p.V198M","missense","T","B",NULL,"-1.57838","rs121908147","0.003993610223642172","0.0015887426236949613","0.009534883720930233","8.228e-03","2017-06-28 09:18:26"
"441","247587277","C","T","NLRP3","NM_001243133.1","(+)","c.[526C>T]","p.R176W","missense",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"4.118e-05","2017-06-27 16:09:45"
"442","6442643","C","T","TNFRSF1A","NM_001065.3","(-)","c.[362G>A]","p.R121Q","missense","T","B",NULL,"1.85261","rs4149584","0.0059904153354632585","0.004539264639128461","0.018604651162790697","1.403e-02","2017-06-27 16:09:45"
"443","227966627","T","C","COL4A4","NM_000092.4","(-)","c.[931-2A>G]",NULL,"splicing",NULL,NULL,NULL,"4.77623",NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:15:24"
"444","227896873","C","T","COL4A4","NM_000092.4","(-)","c.[3697G>A]","p.G1233R","missense","D","D",NULL,"3.69304",NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"445","107863584","G","A","COL4A5","NM_033380.2","(+)","c.[2605G>A]","p.G869R","missense","D","D",NULL,"5.52079","rs104886189",NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"446","227872069","C","T","COL4A4","NM_000092.4","(-)","c.[5045G>A]","p.R1682Q","missense","D","P",NULL,"6.12851","rs368404711",NULL,"0.0","2.4021138601969732E-4","7.446e-05","2017-06-27 16:09:45"
"447","107821618","G","A","COL4A5","NM_033380.2","(+)","c.[780+5G>A]",NULL,"intronic",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:15:24"
"448","107865087","G","A","COL4A5","NM_033380.2","(+)","c.[2732G>A]","p.G911E","missense","D","D",NULL,"4.92414","rs104886363",NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"449","52913617","A","G","KRT5","NM_000424.3","(-)","c.[464T>C]","p.L155P","missense","D","D",NULL,"5.84747",NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"450","52910448","C","T","KRT5","NM_000424.3","(-)","c.[1412G>A]","p.R471H","missense","D","D",NULL,"7.43212",NULL,NULL,NULL,NULL,NULL,"2017-06-28 09:18:26"
"451","50653796","A","C","BMP15","NM_005448.2","(+)","c.[13A>C]","p.S5R","missense","D","B",NULL,"0.754241","rs113099187","0.03576158940397351","0.1155451225873761","1.486767766874814E-4","1.022e-02","2017-06-28 09:18:26"
"452","132197286","G","A","GDF9","NM_005260.5","(-)","c.[1360C>T]","p.R454C","missense",NULL,NULL,NULL,NULL,NULL,"0.0027955271565495207","9.078529278256923E-4","0.002674418604651163","2.940e-03","2017-06-28 09:18:26"
"453","34648847","G","A","GALT","NM_000155.2","(+)","c.[776G>A]","p.R259Q","missense",NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,NULL,"2017-06-27 16:09:45"
"454","132199919","G","A","GDF9","NM_005260.5","(-)","c.[307C>T]","p.P103S","missense",NULL,NULL,NULL,NULL,NULL,"5.990415335463259E-4","6.808896958692692E-4","0.0029069767441860465","3.072e-03","2017-06-27 16:09:45"
"458","20799762","G","A","PDE3A","NM_001244683.1","(+)","c.[1477G>A]","p.G493R","missense","D","D",NULL,"7.54093","rs759348350",NULL,NULL,NULL,"8.236e-06","2017-06-27 16:09:45"
"459","38302189","C","G","CYP1B1","NM_000104.3","(-)","c.[343G>C]","p.A115P","missense",NULL,"D",NULL,"4.97601","rs764338357",NULL,NULL,NULL,"1.712e-05","2017-06-27 16:06:55"
"460","144094553","G","A","NOBOX","NM_001080413.3","(-)","c.[1856C>T]","p.P619L","missense","T",NULL,NULL,"0.37963","rs146227301","0.009584664536741214",NULL,NULL,"1.532e-03","2017-06-27 16:09:45"
"461","38301847","C","T","CYP1B1","NM_000104.3","(-)","c.[685G>A]","p.E229K","missense",NULL,"B",NULL,"5.67005","rs57865060","0.010383386581469648","0.001136880400181901","0.005004655493482309","1.203e-02","2017-06-27 16:09:45"
"463","122630693","A","G","WDR11","NM_018117.11","(+)","c.[1306A>G]","p.I436V","missense",NULL,NULL,NULL,NULL,NULL,"0.0011980830670926517","0.0018157058556513845","0.0010465116279069768","9.060e-04","2017-06-27 16:09:45"
"464","43795896","C","T","TMPRSS3","NM_024022.2","(-)","c.[1276G>A]","p.A426T","missense","D","D",NULL,"6.42525","rs56264519","3.9936102236421724E-4","0.0","0.0020930232558139536","7.742e-04","2017-06-27 16:06:55"
"465","68192694","A","G","LRP5","NM_002335.2","(+)","c.[3361A>G]","p.N1121D","missense","T","B",NULL,"1.95719","rs80358317","0.0029952076677316293",NULL,NULL,"6.589e-04","2017-06-27 16:09:45"