| hg19_chr,hg19_pos(1-based),ref,alt,rs_dbSNP151,genename,Ensembl_geneid,Ensembl_transcriptid,Ensembl_proteinid,Uniprot_acc,Uniprot_entry,aavar,clnsig,MAF,SIFT_score,SIFT4G_score,Polyphen2_HDIV_score,Polyphen2_HVAR_score,MutationTaster_score,MutationAssessor_score,PROVEAN_score,VEST4_score,MetaSVM_score,MetaLR_score,MetaRNN_score,M-CAP_score,REVEL_score,MutPred2_score,MVP_score,gMVP_score,MPC_score,PrimateAI_score,DEOGEN2_score,BayesDel_noAF_score,ClinPred_score,LIST-S2_score,VARITY_R_score,ESM1b_score,AlphaMissense_score,PHACTboost_score,MutFormer_score,MutScore_score,Aloft_prob_Tolerant_score,CADD_phred_score,DANN_score,fathmm-XF_coding_score,Eigen-PC-raw_coding_score,GERP++_RS_score,GERP_91_mammals_score,phyloP100way_vertebrate_score,phyloP470way_mammalian_score,phyloP17way_primate_score,phastCons100way_vertebrate_score,phastCons470way_mammalian_score,phastCons17way_primate_score,bStatistic_score | |
| 1,955677,A,C,rs757604648,AGRN,ENSG00000188157,ENST00000379370,ENSP00000368678,O00468-6,AGRIN_HUMAN,E42A,Likely_benign,0.0003697562,0.0,0.006,.,.,0.77,2.14,-1.46,0.279,-1.0161,0.1408,0.027792811,0.732046,0.270,0.21391549829961926,0.659863245131,0.38095596207710497,0.457944532828,0.942414879799,.,-0.389998,0.169498920597853,0.873813,.,-4.7967925,0.2701,.,0.76258916,0.235,.,24.8,0.9908622802363598,0.429108,0.0398943915852023,2.24,.,2.057000,10.372000,0.512000,1.000000,1.000000,0.963000,934 | |
| 1,977396,G,A,rs201280723,AGRN,ENSG00000188157,ENST00000379370,ENSP00000368678,O00468-6,AGRIN_HUMAN,R413H,Likely_benign,0.0002445725,0.394,0.10200000000000001,.;.;.;.,.;.;.;.,0.25,1.8,-1.79,0.20500000000000002,-1.0862,0.0480,0.03133264,0.023347,0.048,0.10680302587095472,0.49336223678,0.3864261612417926,0.978953363563,0.388821899891,.;.;.;.,-0.538303,0.0269452462358666,0.7758725,.;.;.;.,-5.050540249999999,0.07905000000000001,.;.;.;.,0.00283238,0.046,.;.;.;.,17.03,0.97638867678381847,0.414224,-0.535625361312176,0.601,-4.17,2.167000,-0.590000,-0.276000,1.000000,0.000000,0.643000,940 | |
| 1,978801,G,A,rs377608464,AGRN,ENSG00000188157,ENST00000379370,ENSP00000368678,O00468-6,AGRIN_HUMAN,G523R,Likely_benign,0.0002931854,0.823,0.0965,.;.;.;.,.;.;.;.,0.04,1.02,-0.31,0.252,-0.9654,0.0175,0.0093789995,0.013933,0.079,0.237272771789737,0.491996647052,0.4015884144617565,0.622957177787,0.358753174543,.;.;.;.,-0.609219,0.0486466518755379,0.829117,.;.;.;.,-3.0628241000000003,0.12134999999999999,.;.;.;.,0.00074151,0.04,.;.;.;.,6.012,0.60666917809894483,0.091036,-0.992996077551167,-0.061,-1.32,-0.301000,2.024000,-0.117000,0.000000,0.910000,0.005000,940 | |
| 1,978820,C,T,rs752221979,AGRN,ENSG00000188157,ENST00000379370,ENSP00000368678,O00468-6,AGRIN_HUMAN,A529V,Likely_benign,0.000217484,0.303,0.2825,.;.;.;.,.;.;.;.,0.01,0.29,-0.48,0.237,-0.9371,0.0059,0.023920357,0.014511,0.018,0.11187764135375768,0.33110744837,0.4411714352499868,0.453621968421,0.369141459465,.;.;.;.,-0.735047,0.0311467908591942,0.788921,.;.;.;.,-5.5979145,0.089425,.;.;.;.,0.00034759,0.03,.;.;.;.,22.0,0.93234456577525671,0.119895,-1.00181021400321,0.52,0.378,0.235000,2.118000,-0.197000,0.001000,0.971000,0.014000,940 | |
| 1,983695,G,A,rs200612540,AGRN,ENSG00000188157,ENST00000379370,ENSP00000368678,O00468-6,AGRIN_HUMAN,G1352D,Likely_benign,0.000937217,0.679,1.0,.;.;.;.,.;.;.;.,0.11,1.26,-0.3,0.193,-0.5914,0.3898,0.011725366,.,0.251,0.09730013471852983,0.74218251213,0.44535396006614836,0.175847818237,0.360825896263,.;.;.;.,-0.319493,0.00414344179778093,0.739951,.;.;.;.,-7.666000475000001,0.087425,.;.;.;.,0.00071606,0.011,.;.;.;.,1.41,0.58662810440823032,0.057865,-1.49358343682368,-4.37,-6.25,0.402000,1.034000,-0.175000,0.000000,0.049000,0.088000,940 | |
| 1,983713,C,T,rs755205199,AGRN,ENSG00000188157,ENST00000379370,ENSP00000368678,O00468-6,AGRIN_HUMAN,P1358L,Likely_benign,0.0001658886,0.008,0.0025,.;.;.;.,.;.;.;.,0.14,1.365,-4.73,0.2755,0.3901,0.7037,0.0900431,0.425882,0.54,0.3738747076312363,0.924626439846,0.6244534379704272,0.295338444936,0.578792393208,.;.;.;.,-0.0408504,0.191294651496447,0.8889112499999999,.;.;.;.,-6.7595363,0.10087499999999999,.;.;.;.,0.00529883,0.419,.;.;.;.,22.4,0.99817348820168639,0.535439,-0.0593487873325924,4.11,1.99,4.556000,1.328000,0.573000,1.000000,0.740000,0.080000,940 | |
| 1,984280,G,A,rs183686622,AGRN,ENSG00000188157,ENST00000379370,ENSP00000368678,O00468-6,AGRIN_HUMAN,R1380H,Benign,0.0005086975,0.633,0.492,.;.;.;.,.;.;.;.,0.03,0.195,-0.79,0.057999999999999996,-0.9681,0.1634,0.0071513653,.,0.298,0.06124422228798987,0.575212979872,0.2581834165732692,0.152078820039,0.501872897148,.;.;.;.,-0.442664,0.00139355160086178,0.7838714999999999,.;.;.;.,-2.9772828249999996,0.067,.;.;.;.,0.00057985,0.009,.;.;.;.,0.307,0.67406915260827516,0.095129,-1.73240543741397,-7.43,-5.44,0.272000,-5.047000,-2.682000,0.519000,0.000000,0.087000,940 | |
| 1,985125,A,G,rs201818235,AGRN,ENSG00000188157,ENST00000379370,ENSP00000368678,O00468-6,AGRIN_HUMAN,Q1565R,Likely_benign,0.000285816,0.104,0.006500000000000001,.;.;.;.,.;.;.;.,0.18,0.43,-1.94,0.3025,-0.3768,0.5071,0.008903682,0.211424,0.328,0.14823052493182312,0.873443469669,0.709514680377182,0.167327546539,0.432762622833,.;.;.;.,-0.23356,0.0151766009532263,0.654634,.;.;.;.,-2.1531011500000004,0.06747500000000001,.;.;.;.,0.00202856,0.054,.;.;.;.,16.2,0.95922689199628997,0.559405,-0.397826242679161,3.41,2.31,3.427000,0.970000,0.688000,1.000000,0.987000,0.175000,940 | |
| 1,1149501,C,G,rs751046781,TNFRSF4,ENSG00000186827,ENST00000379236,ENSP00000368538,P43489,TNR4_HUMAN,V3L,Likely_benign,0.0002353271,0.0,0.0,0.034,0.014,0.01,1.04,-1.32,0.136,-0.9675,0.1580,0.006803632,0.059622,0.1,0.2090688592280073,0.299427821978,0.7041005017806912,0.143118971783,0.709821999073,0.122559,-0.472556,0.0923903421848954,0.451655,0.13418399,-2.972513942857143,0.2191,0.0239996841688188,0.23759449,0.026,.;.;.;.;.;.;.,15.55,0.89383686846766031,0.058028,-0.981748672626864,0.978,1.78,0.027000,0.289000,0.549000,0.000000,0.000000,0.082000,789 | |
| 1,1167767,G,A,rs867336520,B3GALT6,ENSG00000176022,ENST00000647651,ENSP00000496787,Q96L58,B3GT6_HUMAN,G37R,Benign,0.004845996,0.345,0.519,0.919,0.102,0.01,0,-0.33,0.153,-1.0353,0.0459,0.009279251,0.245425,0.045,0.2037862609627581,0.391775403332,.,2.20439237927,0.840327262878,0.003165,-0.662067,0.194976949446077,0.305869,0.03169346,-3.3345432,0.1446,0.000646404436175691,0.35219710,0.05,.,11.56,0.90293134859817492,0.075993,-1.05051119634435,1.02,-3.45,-1.233000,1.864000,0.387000,0.000000,0.077000,0.036000,745 | |
| 1,1167768,G,A,rs892958562,B3GALT6,ENSG00000176022,ENST00000647651,ENSP00000496787,Q96L58,B3GT6_HUMAN,G37E,Likely_benign,0.001270596,1.0,1.0,0.498,0.049,0.02,0,0.28,0.099,-1.0675,0.0357,0.023048252,0.139826,0.030,0.17991733021334996,0.159798565429,.,2.25502121363,0.840368628502,9.13E-4,-0.700477,0.0908442048842597,0.248875,0.028815782,-3.9911952,0.1132,0.000510493664612836,0.17010842,0.059,.,0.199,0.83668893788281173,0.047402,-1.49150551760482,-2.63,-3.25,-3.766000,0.022000,-0.765000,0.000000,0.000000,0.027000,745 | |
| 1,1168046,G,A,rs777778007,B3GALT6,ENSG00000176022,ENST00000647651,ENSP00000496787,Q96L58,B3GT6_HUMAN,E130K,Benign,0.0002960074,0.675,0.647,0.532,0.121,0.64,1.715,-1.39,0.487,-1.0358,0.0899,0.015684694,0.799408,0.238,0.7434231561373793,0.675292279496,.,1.07505341604,0.9491507411,0.010638,-0.31097,0.140036903667315,0.918008,0.37463674,-8.638923,0.4599,0.127044278465072,0.75983363,0.356,.,23.4,0.99658857849273952,0.937029,0.209471134764033,3.9,.,7.642000,11.275000,0.460000,1.000000,1.000000,0.969000,745 | |
| 1,1168143,G,A,rs376811907,B3GALT6,ENSG00000176022,ENST00000647651,ENSP00000496787,Q96L58,B3GT6_HUMAN,R162Q,Benign,0.0006760767999999,0.02,0.028,0.999,0.981,0.38,2.99,-3.1,0.766,-0.3965,0.2782,0.013411343,0.951222,0.373,0.6140195650316463,0.734347587335,.,1.98170603155,0.934569120407,0.141188,-0.139194,0.168895163258279,0.934407,0.54011285,-7.669354,0.3876,0.646385768234583,0.94227314,0.893,.,25.7,0.99916308072257731,0.913218,0.460347071220992,3.65,3.97,4.565000,9.405000,0.460000,1.000000,1.000000,0.958000,745 | |
| 1,1271754,C,T,rs570904822,DVL1,ENSG00000107404,ENST00000378888,ENSP00000368166,O14640,DVL1_HUMAN,R619H,Likely_benign,0.0002756589,0.2395,0.1655,0.003,0.004,0.11,1.59,-0.87,0.238,-1.0583,0.0388,0.010023385,0.065406,0.12,0.1325830597318908,0.708353733281,0.3037779483488709,0.10201695535,0.742910146713,0.29347,-0.553795,0.0590979817130792,0.80172,0.0658842,-4.94502265,0.0875,0.00897787782443604,0.21227483,0.031,.;.,19.64,0.97962749765003321,0.416353,-0.370317443940072,2.82,0.961,1.806000,1.412000,-0.200000,0.989000,0.849000,0.031000,784 | |
| 1,1271808,C,A,rs143613619,DVL1,ENSG00000107404,ENST00000378888,ENSP00000368166,O14640,DVL1_HUMAN,G601V,Benign,0.000368604,0.002,0.0685,1.0,0.9995,0.665,2.365,-4.529999999999999,0.543,-0.8171,0.0249,0.016114086,0.105996,0.298,0.23878372929131847,0.798829125781,0.27889821974401136,0.103124469384,0.874543607235,0.712271,-0.230042,0.207172487963768,0.938006,0.72869873,-8.4716115,0.12325,0.00641670621918959,0.69670856,0.546,.;.,23.1,0.97857880615019954,0.847349,0.407554225620081,4.7,3.56,6.589000,7.622000,0.583000,1.000000,1.000000,0.019000,784 | |
| 1,1273365,T,C,rs201374747,DVL1,ENSG00000107404,ENST00000378888,ENSP00000368166,O14640,DVL1_HUMAN,Q569R,Likely_benign,0.0002282642,0.0085,0.22075,0.14100000000000001,0.0665,0.28,1.87,-1.05,0.452,-1.1006,0.0295,0.06598833,0.04685,0.164,0.15967867805739866,0.736620138026,0.3025063723396324,0.0880436698268,0.737032115459,0.30730266666666667,-0.374319,0.100265445058925,0.9022095,0.19448914,-4.9835618675,0.120075,0.201470805675126,0.31486374,0.327,.;.;.;.,23.8,0.97987443408546093,0.920453,0.237656142282678,4.04,5.64,7.699000,7.822000,0.659000,1.000000,1.000000,0.867000,789 | |
| 1,1273654,C,G,rs139708222,DVL1,ENSG00000107404,ENST00000378888,ENSP00000368166,O14640,DVL1_HUMAN,C501S,Likely_benign,0.0001367593,0.13,0.21825,0.4925,0.3065,0.47,0.855,-6.66,0.699,-1.0709,0.0533,0.12477666,0.02125,0.365,0.7147892504451827,0.832442760571,0.7892504158783553,0.104767724388,0.768432974815,0.5232076666666666,-0.0678509,0.187939717687315,0.88333675,0.4820462,-9.805475,0.16557499999999997,0.503789595828169,0.75609530,0.49,.;.;.;.,24.4,0.6023503533703467,0.946821,0.181052113132169,3.48,5.27,7.718000,7.538000,0.594000,1.000000,1.000000,0.650000,789 | |
| 1,1273745,C,T,.,DVL1,ENSG00000107404,ENST00000378888,ENSP00000368166,O14640,DVL1_HUMAN,A471T,Likely_benign,0.0,0.001,0.0032500000000000003,0.999,0.9570000000000001,0.34,3.525,-3.95,0.8425,-0.3460,0.2301,0.85819423,0.09096,0.438,0.719270364127587,0.816768374871,0.7735885219859936,0.151402979217,0.613718509674,0.5925573333333333,-0.0794417,0.994426323965017,0.994562,0.5893914,-9.424379,0.7363,0.825457309151554,0.78530300,0.719,.;.;.;.,31.0,0.9991731623663751,0.886187,0.657426600905026,3.48,5.25,7.783000,7.579000,0.594000,1.000000,1.000000,0.782000,789 | |
| 1,1274741,C,T,rs540896617,DVL1,ENSG00000107404,ENST00000378888,ENSP00000368166,O14640,DVL1_HUMAN,G378D,Likely_benign,0.0,0.106,0.079,0.999,0.914,0.26,2.475,-2.59,0.779,-1.1122,0.0452,0.6725364,0.044039,0.174,0.5008709764864581,0.890944944055,0.695466421219093,.;.,.,0.464398,0.66,0.894311964511871,0.8554645000000001,0.38991225,-8.3822335,0.31805,0.811072337672142,0.67164713,0.776,.;.,34.0,0.99332163074136237,0.854678,0.686432644646658,3.59,.,4.968000,5.923000,0.596000,1.000000,1.000000,0.995000,794 | |
| 1,1275147,G,A,rs755962173,DVL1,ENSG00000107404,ENST00000378888,ENSP00000368166,O14640,DVL1_HUMAN,R319W,Likely_benign,1.199635e-05,0.0,0.0006666666666666666,0.906,0.7245,0.73,2.67,-7.43,0.907,-0.4294,0.2779,0.72088164,0.105069,0.3,0.5069314304601894,0.848571178713,0.7434599085113063,0.461870453635,0.85453748703,0.5345835,-0.0951161,0.994684755802155,0.9855790000000001,0.8258493,-13.190583333333334,0.6083666666666666,0.971277373023337,0.79040366,0.874,.;.;.,35.0,0.99768610440211047,0.751730,0.308589849027136,3.19,5.76,2.751000,7.284000,0.586000,0.999000,1.000000,0.031000,794 | |
| 1,1277119,G,A,rs139645212,DVL1,ENSG00000107404,ENST00000378888,ENSP00000368166,O14640,DVL1_HUMAN,A178V,Likely_benign,0.0001721072,0.009,0.0475,0.296,0.036,0.155,2.045,-1.885,0.179,-1.0577,0.0230,0.01934123,0.012751,0.113,0.1220424432581684,0.749274257613,0.3889873533154165,0.0943229223743,0.407854557037,0.501677,-0.552615,0.0468974243700328,0.5209475,0.10400389,-4.8093131499999995,0.08415,0.149844874266031,0.31079760,0.167,.;.,20.8,0.99126559620943655,0.484163,-0.350890692468209,3.82,5.68,3.749000,9.878000,-0.168000,0.595000,1.000000,0.001000,799 | |
| 1,1460622,T,G,.,ATAD3A,ENSG00000197785,ENST00000378755,ENSP00000368030,Q9NVI7,ATD3A_HUMAN,L454R,Pathogenic,0.0,0.0,0.0006666666666666666,.;.;.,.;.;.,0.5366666666666666,2.035,-5.366666666666667,0.9246666666666666,0.9065,0.8577,0.9248675,0.279762,0.9170000000000001,0.9040948543754175,0.978845070808,0.9669762193238847,4.31666214769,0.745292186737,.;.;.,0.43207,0.991417765617371,0.9868346666666667,.;.;.,-15.765370500000001,0.8889,0.97770435393022,0.06814762,0.878,.;.;.,25.7,0.9969323612525326,0.786849,0.521861343368763,4.84,3.26,6.290000,7.692000,0.568000,1.000000,1.000000,0.091000,846 | |
| 1,1469423,G,A,rs200240134,ATAD3A,ENSG00000197785,ENST00000378755,ENSP00000368030,Q9NVI7,ATD3A_HUMAN,G626R,Likely_benign,0.0006623732,0.07300000000000001,0.015,.;.;.,.;.;.,0.02666666666666667,1.645,-0.39666666666666667,0.18733333333333335,-0.9950,0.0819,0.006322235,0.008957,0.254,0.029128807479010716,0.8580302113319999,0.3426565669532685,0.557617868616,0.240795224905,.;.;.,-0.19746,0.00579250374565147,0.6021063333333333,.;.;.,-3.5861807666666667,0.08853333333333334,0.0205688793922076,0.00074041,0.041,.;.;.,0.243,0.83937976348057852,0.132227,-1.21685798152388,-2.53,-4.15,-0.499000,-0.793000,-0.257000,0.000000,0.000000,0.002000,840 | |
| 1,1735945,C,T,.,GNB1,ENSG00000078369,ENST00000610897,ENSP00000481878,P62873,GBB1_HUMAN,G115S,Pathogenic,0.0,0.016666666666666666,0.019,0.9909999999999999,0.9640000000000002,0.91,4.095,-5.426666666666667,0.8856666666666667,0.1044,0.5355,0.92330176,0.172194,0.697,0.8683841064804644,0.9136658535940001,0.7556589243064901,2.86950411635,0.913113415241,0.4051286190476191,0.276543,0.998750448226929,0.9916316666666667,0.9044697999999998,-11.63167321739131,0.9754999999999999,0.9963269171262252,0.73973876,0.955,.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.,33.0,0.99863763845731546,0.840171,0.587646556497746,3.5,3.43,7.729000,5.883000,0.597000,1.000000,1.000000,0.769000,725 | |
| 1,1737951,C,T,.,GNB1,ENSG00000078369,ENST00000610897,ENSP00000481878,P62873,GBB1_HUMAN,G77D,Likely_pathogenic,0.0,0.00025,0.001,0.9960000000000002,0.9819999999999998,0.88,2.3250000000000006,-6.362500000000001,0.967,-0.0217,0.4723,0.9129035,0.131204,0.744,0.9153787384802337,0.948483032073,0.8757337792431016,3.50374879105,0.91965764761,0.4152387999999999,0.283005,0.997215867042542,0.9826130000000001,0.9872943999999999,-18.97259408695652,0.99978,0.9998608646566611,0.91030663,1,.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.,31.0,0.97181028947637327,0.940724,0.858344447468672,5.66,.,7.706000,7.509000,0.599000,1.000000,1.000000,0.998000,730 | |
| 1,1737955,C,T,.,GNB1,ENSG00000078369,ENST00000610897,ENSP00000481878,P62873,GBB1_HUMAN,D76N,Likely_pathogenic,0.0,0.001,0.005,0.9810000000000001,0.9469999999999996,0.63,2.7299999999999986,-4.655,0.947,0.9381,0.8579,0.8943114,0.652146,0.823,0.8875310024136284,0.9404178703370001,0.9715580352843097,2.55136621799,0.897770285606,0.40732,-0.0667873,0.99802702665329,0.9979266666666667,0.9343318299999999,-16.293129434782603,0.9986600000000001,0.9998305585774365,0.81889500,0.989,.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.,32.0,0.99206270320892154,0.909697,0.787793493349555,4.75,3.42,7.706000,7.509000,0.599000,1.000000,1.000000,0.999000,730 | |
| 1,1747228,T,G,.,GNB1,ENSG00000078369,ENST00000610897,ENSP00000481878,P62873,GBB1_HUMAN,K57T,Likely_pathogenic,0.0,0.0,0.001,0.9990000000000001,0.9979999999999999,0.95,0.145,-5.632499999999999,0.819,-0.5956,0.2655,0.8334361999999998,0.02933,0.57,0.9097187989646733,0.8440090811660002,0.8726654550543318,2.01400659374,0.901050448418,0.4077995,0.144832,0.99140852689743,0.9898760000000001,0.9587857,-17.414540043478258,0.99576,0.9998080649633141,0.81994740,0.94,.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.,28.8,0.98953363589772603,0.920790,0.727785168872076,5.91,.,7.780000,7.692000,0.665000,1.000000,1.000000,0.990000,730 | |
| 1,2234472,A,T,rs377336741,SKI,ENSG00000157933,ENST00000378536,ENSP00000367797,P12755,SKI_HUMAN,Q342L,Likely_benign,0.0003422612999999,0.06,0.353,0.963,0.344,0.03,2.095,-1.61,0.682,0.4627,0.6970,0.018265963,.,0.487,0.26554553512385753,0.822679121933,0.3511979133687908,0.4493125305,0.510024547577,0.31761,0.0331131,0.136899559654137,0.714629,0.073739685,-2.7789438,0.0816,0.111662018196801,0.94366750,0.108,.,21.8,0.98528913339791846,0.313887,0.181470416463456,3.65,4.05,3.524000,7.635000,0.738000,1.000000,1.000000,0.820000,940 | |
| 1,2340056,C,T,rs368273118,PEX10,ENSG00000157911,ENST00000288774,ENSP00000288774,O60683-2,PEX10_HUMAN,M145I,Benign,0.002484876,0.4756666666666667,0.49800000000000005,0.0,0.0,0.0,-1.63,0.83,0.13233333333333333,-0.9669,0.0798,0.00320841375,.,0.08600000000000001,0.07930390964400784,0.307016933798,0.23091880644901952,0.103562949394,0.381825447083,0.04352466666666666,-0.521287,0.00340087016643169,0.73907325,0.049643766,-4.10481985,0.12303333333333333,0.000107885265900183,0.78764890,0.017,.;.;.;.,11.86,0.68920848594933826,0.203656,-1.12609457512312,0.272,1.93,-0.671000,0.446000,0.599000,0.026000,0.993000,0.145000,889 | |
| 1,3301728,C,G,rs371021789,PRDM16,ENSG00000142611,ENST00000270722,ENSP00000270722,Q9HAZ2,PRD16_HUMAN,L151V,Likely_benign,0.0001927726,0.0425,0.198,0.8714999999999999,0.3705,0.13,2.445,-0.825,0.37850000000000006,0.1219,0.5739,0.066400886,0.189909,0.342,0.32774467559716386,0.652360573229,0.4629108584689369,0.553777361804,0.372438311577,0.058373,-0.215731,0.11704426629542,0.7735226,0.059805155,-3.72385258,0.10031999999999999,0.0734590284453859,0.65584560,0.05,.;.;.;.;.,20.9,0.98889726772198439,0.424661,-0.221358950094163,2.64,-2.86,1.203000,1.056000,-0.803000,0.993000,0.962000,0.036000,958 | |
| 1,3313127,C,A,rs368140002,PRDM16,ENSG00000142611,ENST00000270722,ENSP00000270722,Q9HAZ2,PRD16_HUMAN,P216T,Likely_benign,0.0002131213,0.0424,0.1236,0.10550000000000001,0.0385,0.21,1.445,-2.382,0.0645,-0.9595,0.0121,0.01141876,0.024547,0.026000000000000002,0.39511953019562507,0.251679625132,0.24065875616215923,0.399629525526,0.373731315136,0.1165195,-0.674638,0.0552738685773707,0.726327,0.048517562,-2.7948840600000002,0.06538000000000001,0.00306747309994143,0.14143988,0.097,.;.;.;.;.,7.435,0.92324168897655678,0.437888,-0.450000273308786,1.29,-4.66,1.063000,-0.952000,0.599000,1.000000,0.001000,0.507000,952 | |
| 1,3321352,G,A,rs191798831,PRDM16,ENSG00000142611,ENST00000270722,ENSP00000270722,Q9HAZ2,PRD16_HUMAN,D312N,Likely_benign,0.0002169006,0.1696,0.10300000000000001,0.974,0.735,0.3425,1.73,-3.582,0.7819999999999999,-1.0495,0.0451,0.030246019999999995,0.046159,0.146,0.5970653601456165,0.54801067971,0.40223957782635406,0.56151172001,0.787594377995,0.338949,-0.57588,0.0805216960545,0.946705,0.27326778,-10.278403899999997,0.71878,0.606710888322576,0.37317920,0.267,.;.;.;.;.,27.1,0.99865435762743371,0.934781,0.378080833086019,4.79,.,7.846000,11.683000,0.604000,1.000000,1.000000,0.383000,958 | |
| 1,3328386,C,A,rs573253046,PRDM16,ENSG00000142611,ENST00000270722,ENSP00000270722,Q9HAZ2,PRD16_HUMAN,T542N,Likely_benign,0.0004984035,0.3866,0.5071999999999999,0.229,0.089,0.0,1.955,-0.626,0.17675000000000002,-1.0023,0.0198,0.007753014599999999,0.022355,0.072,0.17935095138259916,0.376089632046,0.45083732433978285,0.401922434935,0.603835225105,0.0524905,-0.66773,0.0699408999936348,0.7979404000000001,0.12806837,-3.70854912,0.11776,0.0108426767674873,0.21364142,0.058,.;.;.;.;.,21.3,0.94184538960844955,0.675514,0.204776875605075,5.33,1.11,3.524000,2.674000,0.580000,1.000000,0.932000,0.957000,958 | |
| 1,3328796,G,A,rs772689095,PRDM16,ENSG00000142611,ENST00000270722,ENSP00000270722,Q9HAZ2,PRD16_HUMAN,D679N,Likely_benign,0.0001330034,0.09659999999999999,0.40499999999999997,0.638,0.0775,0.0775,1.955,-1.424,0.27775,-0.8597,0.0115,0.09134662,0.050242,0.095,0.12720128272536663,0.638691280084,0.1272422101595917,0.42016348783,0.578669786453,0.0858055,-0.700544,0.219507470726967,0.9662029999999999,0.089194946,-7.707858140000001,0.11106,0.0103580606775319,0.17973189,0.12,.;.;.;.;.,21.4,0.99103942027904834,0.741121,-0.036627694475197,4.16,-2.1,6.726000,4.898000,0.650000,1.000000,1.000000,0.014000,958 | |
| 1,3329187,G,C,rs765866896,PRDM16,ENSG00000142611,ENST00000270722,ENSP00000270722,Q9HAZ2,PRD16_HUMAN,S809T,Likely_benign,0.0002562812,0.0998,0.2924,0.2635,0.1115,0.13,2.28,-0.6639999999999999,0.26925,-1.0419,0.0149,0.019181788,0.039937,0.083,0.20268722357971303,0.512835343449,0.3075472732759608,0.441311451109,0.55205976963,0.095159,-0.603412,0.0694730037607079,0.7986001999999999,0.062986985,-7.7735243,0.12158,0.00372614318857472,0.55847555,0.075,.;.;.;.;.,23.5,0.97719354184212104,0.752711,0.161564113197061,3.11,2.46,4.871000,8.267000,0.658000,1.000000,1.000000,0.968000,958 | |
| 1,3342713,G,A,rs867029514,PRDM16,ENSG00000142611,ENST00000270722,ENSP00000270722,Q9HAZ2,PRD16_HUMAN,D1070N,Likely_benign,4.008145e-06,0.0012000000000000001,0.0054,0.9984999999999999,0.9955,0.28750000000000003,3.315,-4.006,0.8274999999999999,-1.0343,0.0815,0.71290493,0.081335,0.355,0.7076348223750005,0.799015731027,0.372604766105452,0.415285570713,0.790746808052,0.3884795,-0.490311,0.991999983787537,0.9972999999999999,0.68860364,-11.0969048,0.7532,0.944626116362951,0.90432000,0.806,.;.;.;.;.,29.6,0.99897969177030521,0.955848,0.712288080755599,4.48,.,9.502000,11.505000,0.676000,1.000000,1.000000,0.977000,958 | |
| 1,3747626,A,G,rs140512094,CEP104,ENSG00000116198,ENST00000378230,ENSP00000367476,O60308,CE104_HUMAN,I607T,Likely_benign,0.0002068433,0.277,0.215,0.0,0.001,0.19,1.04,-1.75,0.185,-0.9851,0.1777,0.015605301,0.021919,0.095,0.09713720403237104,0.273070737957,0.17239543536478216,0.213799847793,0.253559678793,0.019796,-0.580804,0.0179056175223326,0.671133,0.05253728999999999,-3.39920288,0.0602,0.00194555384554453,0.00056850,0.055,.;.;.;.;.;.;.;.;.;.,11.54,0.6866120661102626,0.075497,-1.12833134207361,1.75,-0.0703,1.727000,3.605000,-0.061000,0.001000,0.030000,0.001000,976 | |
| 1,6535121,C,A,rs575792064,PLEKHG5,ENSG00000171680,ENST00000537245,ENSP00000439625,O94827-6,PKHG5_HUMAN,K175N,Likely_benign,0.0001511067,0.002833333333333333,0.004,0.992,0.781,0.005,.;.;.;.;.;.;.;.;.;.;.;.;.;.;.,-2.75,0.5045,-0.0309,0.5438,0.06694549,0.317864,0.44200000000000006,0.6003044191342218,0.8062811708239999,.;.;.;.;.;.;.;.;.;.;.;.;.;.;.,0.308477308894,0.670694410801,.;.;.;.;.;.;.;.;.;.;.;.;.;.;.,-0.211327,0.278871129923083,0.961904,.;.;.;.;.;.;.;.;.;.;.;.;.;.;.,-9.999232466666664,0.9593333333333333,0.600920792790069,0.32316220,0.643,.;.;.;.;.;.;.;.;.;.;.;.;.;.;.,26.0,0.99756795315351932,0.497043,0.040449312566035,1.96,1.5,2.694000,3.234000,0.531000,1.000000,1.000000,0.974000,835 | |
| 1,7723593,A,G,rs151133441,CAMTA1,ENSG00000171735,ENST00000303635,ENSP00000306522,Q9Y6Y1,CMTA1_HUMAN,K329R,Benign,0.007314399,0.324,0.792,0.997,0.98,0.08,-0.46,-0.76,0.56,-1.1331,0.0508,0.006431699,.,0.124,0.42763763294303697,0.58039044887,0.323828615840551,1.24459615627,0.605004668236,0.012349,-0.52615,0.0282246950746989,0.938506,0.20326221,-3.846217375,0.1276,0.621063769716068,0.00415315,0.205,.;.;.;.,23.7,0.98986987883762356,0.890259,0.552438765147192,4.89,.,7.375000,9.232000,0.743000,1.000000,1.000000,0.999000,913 | |
| 1,7724486,G,A,rs775433901,CAMTA1,ENSG00000171735,ENST00000303635,ENSP00000306522,Q9Y6Y1,CMTA1_HUMAN,V627I,Likely_benign,2.395018e-05,0.294,0.449,0.0,0.0,0.07,0.0,0.1,0.07,-0.9927,0.0288,0.03400302,0.003847,0.076,0.023650821468541288,0.196089822672,0.094240504451721,0.38830470761,0.231934338808,0.008543,-0.845433,0.0712617341907435,0.651035,0.035087522,-4.56925224,0.0612,2.60930352512338e-05,0.00079259,0.022,.;.;.;.;.,0.038,0.87143617181012645,0.034204,-1.29670585693021,-4.29,-11.0,-0.397000,-2.601000,-1.113000,0.001000,0.000000,0.296000,913 | |
| 1,7724986,C,A,rs759748849,CAMTA1,ENSG00000171735,ENST00000303635,ENSP00000306522,Q9Y6Y1,CMTA1_HUMAN,H793Q,Likely_benign,0.0001079223,0.11,0.307,0.998,0.986,0.49,0.975,-2.65,0.359,-1.1133,0.0982,0.16989431,0.020267,0.179,0.5600995158194274,0.543415583544,0.7666809297860948,0.487438807209,0.700503230095,0.193461,-0.288775,0.225183056910693,0.739426,0.25378558,-2.6774927600000002,0.3974,0.580750104963181,0.08032664,0.178,.;.;.;.;.,21.1,0.97462853314210951,0.443688,0.478580038620682,5.23,3.19,2.021000,3.293000,0.589000,1.000000,1.000000,0.866000,913 | |
| 1,7792603,G,A,rs144736926,CAMTA1,ENSG00000171735,ENST00000303635,ENSP00000306522,Q9Y6Y1,CMTA1_HUMAN,G1004R,Likely_benign,0.0001439481999999,0.018,0.064,0.994,0.534,0.36,1.59,-2.93,0.666,-1.0843,0.0979,0.08083612,0.031613,0.127,0.15514705176780533,0.496517408137,0.3687116533495714,1.30509170409,0.460941940546,0.193501,-0.270855,0.0707175360112167,0.905509,0.20533007,-9.14362125,0.3686,0.931251799027874,0.11516567,0.22,.;.;.;.;.;.;.;.;.;.;.;.,25.8,0.9952684016973572,0.231943,0.105703323657992,3.64,0.978,2.592000,6.294000,0.671000,0.998000,1.000000,0.989000,803 | |
| 1,7796492,C,T,rs772063088,CAMTA1,ENSG00000171735,ENST00000303635,ENSP00000306522,Q9Y6Y1,CMTA1_HUMAN,A1052V,Likely_benign,3.976744e-05,0.099,0.908,0.999,0.935,0.53,0.55,-2.2,0.54,-0.6895,0.2891,0.4369232,0.015431,0.182,0.38451458756935797,0.647727050542,0.8111033675054209,0.767474901554,0.818905711174,0.043307,-0.158314,0.273898504481792,0.939806,0.17903136,-9.290246083333335,0.1619,0.0085434540053732,0.23601784,0.247,.;.;.;.;.;.;.;.;.;.;.;.,28.3,0.99892359832704225,0.552496,0.458153749350177,5.58,3.61,6.025000,5.956000,0.596000,1.000000,1.000000,0.979000,796 | |
| 1,7805987,G,A,.,CAMTA1,ENSG00000171735,ENST00000303635,ENSP00000306522,Q9Y6Y1,CMTA1_HUMAN,E1485K,Likely_benign,0.0,0.004,0.063,0.996,0.701,0.44499999999999995,2.595,-2.47,0.758,-0.6657,0.2921,0.45447755,0.033743,0.157,0.3185072906090458,0.681063263353,0.4237122698787843,1.3878823604,0.594672203064,0.047255,-0.118184,0.980699479579926,0.929807,0.38902548,-7.618284633333334,0.1872,0.811969975333338,0.03871176,0.496,.;.;.;.;.;.;.;.;.;.;.;.,28.9,0.99927306475863231,0.863961,0.744409788948959,5.86,.,9.690000,11.845000,0.676000,1.000000,1.000000,0.949000,772 | |
| 1,7870637,C,T,rs777226760,PER3,ENSG00000049246,ENST00000613533,ENSP00000482093,P56645-2,PER3_HUMAN,A504V,Likely_benign,1.232529e-05,0.313,0.24533333333333332,0.994,0.652,0.02,.;.;.,-0.69,0.14733333333333334,-1.0350,0.0292,0.082583666,0.002327,0.083,0.05037680041518422,0.280987212366,0.08436166008498436,.;.;.,.,0.018926,-0.640657,0.0671571048757693,0.480552,.;.;.,-3.8643731999999997,0.08235,.;.;.,0.00128283,0.042,.;.;.,7.18,0.7081999146990674,0.028042,-0.707139289739959,1.57,1.63,-0.347000,-0.030000,0.594000,0.004000,0.000000,0.005000,656 | |
| 1,7886750,C,T,rs150960403,PER3,ENSG00000049246,ENST00000613533,ENSP00000482093,P56645-2,PER3_HUMAN,A723V,Likely_benign,0.0002428131,0.0835,0.15825,0.9486666666666667,0.6083333333333333,0.02,2.35,-1.71,0.22349999999999998,-1.0555,0.0254,0.004752457,0.004545,0.1,0.07178240412400196,0.481764910267,0.14446346713940608,0.336726995256,0.252810835838,0.0487245,-0.609935,0.0709572580983178,0.69753,0.060795084,-4.01679145,0.1501,0.00182716006550916,0.00113968,0.051,.;.;.;.,16.41,0.99754098412443337,0.054626,-0.426247487381354,1.45,0.827,-0.013000,-0.134000,0.599000,0.000000,0.000000,0.918000,531 | |
| 1,7887262,G,A,rs140974114,PER3,ENSG00000049246,ENST00000613533,ENSP00000482093,P56645-2,PER3_HUMAN,S758N,Benign,0.005337289,0.037,0.02275,0.3176666666666667,0.08700000000000001,0.025,1.935,-1.105,0.07500000000000001,-0.9394,0.0377,0.0038220286,.,0.09,0.0706071162942104,0.402899589544,0.10486589036774804,0.222339536116,0.255118489265,0.11025850000000001,-0.767638,0.0246835238520997,0.35356499999999996,0.1713542,-5.0464424,0.108,0.000513607243478538,0.00068995,0.117,.;.;.;.,11.49,0.98711722552166736,0.059648,-0.748341493480713,2.48,-0.132,0.661000,0.091000,0.676000,0.001000,0.000000,0.021000,524 | |
| 1,7887288,C,T,rs556093537,PER3,ENSG00000049246,ENST00000613533,ENSP00000482093,P56645-2,PER3_HUMAN,P767S,Likely_benign,0.001093705,0.0825,0.149,0.014333333333333332,0.014333333333333332,0.02,1.885,-2.0999999999999996,0.0925,-0.9525,0.0213,0.0040982664,0.00291,0.038,0.108905313894228,0.250039746154,0.17836471058945452,0.0893347323387,0.262886285782,0.1214275,-0.762543,0.0199100756779158,0.50365,0.02638188,-1.8400466500000001,0.07893333333333334,0.000295772393566626,0.00063874,0.041,.;.;.;.,5.31,0.79103073201528085,0.035215,-1.36283367877418,-2.69,-1.48,0.109000,-0.987000,-0.780000,0.000000,0.000000,0.000000,524 | |
| 1,7887424,T,C,rs776616940,PER3,ENSG00000049246,ENST00000613533,ENSP00000482093,P56645-2,PER3_HUMAN,L812P,Likely_benign,0.0002273997,0.0605,0.16825,0.9913333333333334,0.8576666666666667,0.04,2.11,-1.8,0.36850000000000005,-1.0600,0.0599,0.010607183,0.010207,0.038,0.4527689493825761,0.31411915649,0.23982730241436806,0.529928466693,0.393456578255,0.021348,-0.5576,0.0290095769641435,0.589541,0.1561671,-4.249328475,0.10110000000000001,0.0062481613200154,0.00118815,0.307,.;.;.;.,18.75,0.94561119673860516,0.135774,-0.334792388749828,2.95,2.05,0.943000,1.003000,0.665000,0.001000,0.003000,0.127000,525 | |
| 1,7890153,C,T,rs144178755,PER3,ENSG00000049246,ENST00000613533,ENSP00000482093,P56645-2,PER3_HUMAN,T1049I,Likely_benign,0.00136922,0.016,0.27775,0.18333333333333335,0.06133333333333333,0.0,1.24,-0.59,0.0985,-0.9953,0.0220,0.004548222,0.001601,0.032,0.11228464593384796,0.381409048467,0.24206851073120256,0.0997312939476,0.417741298676,0.0421645,-0.6218,0.00156240985269351,0.31646833333333335,0.03576928,-6.43420245,0.17946666666666666,0.000429458766568433,0.00094339,0.023,.;.;.;.,7.255,0.97017626575826488,0.024890,-1.06171073015392,0.359,.,0.092000,0.190000,0.304000,0.020000,0.000000,0.018000,534 | |
| 1,8416195,G,A,.,RERE,ENSG00000142599,ENST00000337907,ENSP00000338629,Q9P2R6,RERE_HUMAN,P1484L,Likely_benign,0.0,0.8004,0.8654999999999999,0.374,0.291,0.2975,1.92,-1.54,0.56725,-1.0605,0.0936,0.31121266,0.012079,0.22000000000000003,0.5237048335161435,0.625003263429,0.7626034779628883,0.362624770192,0.840726792812,0.555083,-0.348317,0.348886842339675,0.8832115,0.08578522,-9.204639333333333,0.13496000000000002,0.997211376831814,0.33464804,0.385,.;.;.;.;.;.,23.7,0.82382519068296922,0.868891,-0.0668019316415245,5.16,2.79,6.726000,9.956000,0.676000,1.000000,1.000000,0.101000,872 | |
| 1,8420479,G,A,rs1467971154,RERE,ENSG00000142599,ENST00000337907,ENSP00000338629,Q9P2R6,RERE_HUMAN,P1030S,Benign,7.588021e-05,0.55,0.15625,0.0003333333333333333,0.0016666666666666668,0.1525,1.04,-1.065,0.093,-1.0792,0.0740,0.09080404,0.018101,0.061,0.08009943825059561,0.53696094513,0.2815582189899095,0.35895910614,0.472816675901,0.135467,-0.572147,0.0151151611460435,0.7470249999999999,0.039028652,-3.87439374,0.05055,0.00713793995418068,0.03565109,0.028,.;.;.;.;.,13.27,0.94449127237675623,0.153142,-0.467298165031097,2.44,0.194,3.367000,1.115000,0.580000,1.000000,1.000000,0.292000,861 | |
| 1,8420506,G,T,rs771321205,RERE,ENSG00000142599,ENST00000337907,ENSP00000338629,Q9P2R6,RERE_HUMAN,P1021T,Likely_benign,7.045727e-05,0.00475,0.02375,0.23433333333333337,0.08433333333333333,0.10250000000000001,2.3,-2.23,0.27175,-1.0027,0.0959,0.23208424,0.040542,0.148,0.06916237213345913,0.352914559346,0.34946471851330774,0.395626300764,0.49417579174,0.50539,-0.444922,0.75132942199707,0.888011,0.13577998,-5.724145399999999,0.06205,0.426233925672743,0.03128076,0.147,.;.;.;.;.,20.3,0.99586648802804045,0.463133,-0.0227098308827975,4.44,2.22,2.167000,3.513000,-0.113000,1.000000,1.000000,0.003000,861 | |
| 1,8420794,T,C,rs148082830,RERE,ENSG00000142599,ENST00000337907,ENSP00000338629,Q9P2R6,RERE_HUMAN,M925V,Likely_benign,0.0002550068,0.0,0.51025,0.01,0.007333333333333333,0.2625,2.05,-1.0325,0.47175,-1.0240,0.1058,0.009274006,0.060386,0.156,0.19984672462569084,0.829601207678,0.10973978996913994,0.361335256957,0.837868392467,0.148851,-0.138584,0.0656787682084962,0.8344499999999999,0.74628234,-3.3382927800000006,0.151725,0.616080195066485,0.13879168,0.165,.;.;.;.;.,21.6,0.57177043976896236,0.519780,-0.0611467555129661,4.73,2.26,5.153000,2.486000,0.663000,1.000000,1.000000,0.975000,861 | |
| 1,8421264,G,A,rs769287721,RERE,ENSG00000142599,ENST00000337907,ENSP00000338629,Q9P2R6,RERE_HUMAN,P768L,Likely_benign,0.0001230788,0.0022500000000000003,0.023,0.045000000000000005,0.058666666666666666,0.1275,1.355,-1.7625,0.09225,-0.9985,0.1145,0.02911827,0.024548,0.121,0.0780025652784839,0.226560886239,0.3984510698482567,1.06783095488,0.432992607355,0.22021,-0.534457,0.179591166906257,0.891186,0.1280591,-5.1304357666666665,0.07654000000000001,0.0351711440234638,0.01151089,0.168,.;.;.;.;.;.,22.1,0.99716645606313692,0.446896,-0.214151664204097,5.17,3.76,3.881000,6.354000,0.596000,0.677000,0.997000,0.022000,856 | |
| 1,8555184,G,C,.,RERE,ENSG00000142599,ENST00000337907,ENSP00000338629,Q9P2R6,RERE_HUMAN,S348C,Likely_benign,0.0,0.034249999999999996,0.0012000000000000001,0.948,0.42933333333333334,0.3175,2.43,-2.96,0.817,-0.6689,0.2008,0.5678024,0.039569,0.297,0.3944773938523841,0.733469729903,0.8503670517754816,1.97522762311,0.817289829254,0.4697883333333333,-0.00178249,0.957988321555389,0.9547186666666666,0.2526157,-11.019683249999998,0.4348142857142857,0.881582314304066,0.01845596,0.148,.;.;.;.;.;.;.;.,26.0,0.9803763859798873,0.860778,0.573936495394861,4.91,3.69,7.962000,11.782000,0.676000,1.000000,1.000000,0.995000,539 | |
| 1,8716142,G,A,rs116282153,RERE,ENSG00000142599,ENST00000337907,ENSP00000338629,Q9P2R6,RERE_HUMAN,T72M,Likely_benign,0.0001550905,0.005333333333333333,0.059666666666666666,0.488,0.168,0.09000000000000001,0.55,-0.9266666666666666,0.29600000000000004,-1.0240,0.0638,0.007477044999999999,0.007382,0.04700000000000001,0.13327196068125333,0.381604440629,0.30610664404765076,1.80444484246,0.621791422367,0.121935,-0.440539,0.0568949436163252,0.9548545,0.055663526,-6.1590206499999995,0.09707999999999999,0.0755001331624259,0.00251902,0.065,.;.;.;.;.;.,23.7,0.99550878193641767,0.394850,0.174165039754715,4.53,.,5.021000,8.538000,0.676000,1.000000,1.000000,0.993000,600 | |
| 1,9322333,C,T,rs375504656,H6PD,ENSG00000049239,ENST00000602477,ENSP00000473348,R4GMU1,R4GMU1_HUMAN,R332C,Likely_benign,0.000301978,0.002,0.0235,1.0,0.908,0.39,2.57,-3.2,0.587,0.9795,0.9905,0.11342102,0.677301,0.822,0.41241674393349476,0.991165425067,0.6191515897020535,0.518287771007,0.318073868752,0.836867,0.210392,0.119561198596725,0.923208,0.6664944,-7.46441385,0.09145,0.472213299382157,0.34496460,0.523,.;.,28.2,0.99943350170766632,0.674190,0.666627654693403,5.24,.,3.502000,3.983000,0.599000,1.000000,1.000000,0.985000,881 | |
| 1,9322376,C,T,rs140631516,H6PD,ENSG00000049239,ENST00000602477,ENSP00000473348,R4GMU1,R4GMU1_HUMAN,P346L,Likely_benign,0.002429384,0.003,0.0055,1.0,0.976,0.03,3.17,-6.94,0.912,0.9080,0.9554,0.082437456,0.288583,0.899,0.7062024149789232,0.983126997557,0.732442199594454,0.520382763102,0.66036272049,0.911964,0.467799,0.065449511711199,0.941106,0.7572626,-9.7107915,0.37949999999999995,0.977954502702363,0.27637910,0.748,.;.,28.2,0.99890017959383881,0.621420,0.759921471291918,5.24,4.95,5.612000,7.541000,0.599000,1.000000,1.000000,0.736000,881 | |
| 1,9323739,G,A,rs35511555,H6PD,ENSG00000049239,ENST00000602477,ENSP00000473348,R4GMU1,R4GMU1_HUMAN,R407Q,Likely_benign,0.0002434955,0.266,0.1735,0.053,0.012,0.03,1.785,-1.07,0.0645,0.2200,0.8165,0.015283704,0.085941,0.336,0.4098823647849598,0.917705400606,0.4143634037733681,0.119491900583,0.211638212204,0.505064,-0.120742,0.0313972672253787,0.836316,0.046729803,-3.3649692499999997,0.0746,0.0272110123349287,0.47233608,0.143,.;.,13.11,0.98302625422777212,0.063254,-0.656493312919067,0.959,0.268,1.883000,-0.094000,0.662000,0.969000,0.000000,0.320000,890 | |
| 1,9324485,C,T,rs146595089,H6PD,ENSG00000049239,ENST00000602477,ENSP00000473348,R4GMU1,R4GMU1_HUMAN,R656W,Likely_benign,0.001078917,0.008,0.0185,1.0,0.996,0.06,2.77,-4.03,0.2875,-0.6585,0.1988,0.006688446,0.029481,0.302,0.5490568903353412,0.582924345863,0.758878192804012,0.488856860282,0.465835601091,0.48123,-0.190566,0.127026004348579,0.971703,0.29972354,-8.3191595,0.14285,0.231817375444459,0.87980485,0.489,.;.,19.74,0.99718505013216485,0.331441,-0.749420306936401,-6.19,-1.29,-0.382000,-0.473000,-0.136000,0.000000,0.000000,0.950000,900 | |
| 1,9324819,C,T,rs201296526,H6PD,ENSG00000049239,ENST00000602477,ENSP00000473348,R4GMU1,R4GMU1_HUMAN,T767M,Benign,0.0007845883,0.282,0.137,0.175,0.036,0.0,1.67,-1.43,0.08449999999999999,-1.0372,0.0845,0.004346341,.,0.022,0.07233828769112752,0.432379865206,0.4125700157262459,0.117826432024,0.236423388124,0.115941,-0.678134,0.0277020411694309,0.411059,0.012967054,-4.907735349999999,0.060649999999999996,0.00279617865662059,0.41235816,0.054,.;.,11.08,0.93412046885721045,0.090965,-0.903706643041132,0.709,0.436,1.393000,-0.415000,-0.181000,0.040000,0.000000,0.814000,903 | |
| 1,9780224,C,T,rs368722127,PIK3CD,ENSG00000171608,ENST00000377346,ENSP00000366563,O00329,PK3CD_HUMAN,T465M,Benign,0.0008712821,0.08,0.2305,0.9674000000000001,0.7834,0.05,1.8099999999999998,-1.76,0.3045,-0.1301,0.4406,0.009709716,0.106383,0.274,0.09678452970163084,0.671616894213,0.6682988555747061,1.93826424674,0.451856732368,0.19201733333333335,-0.320549,0.0813773378371988,0.809019,0.12157589,-4.558960188888888,0.12505,0.140100559896284,0.22340672,0.084,.;.;.;.;.;.;.;.;.,23.3,0.99718052860541373,0.273415,-0.0096999491928282,4.63,3.4,3.944000,5.940000,-0.171000,0.999000,1.000000,0.017000,835 | |
| 1,9781221,G,A,rs199549932,PIK3CD,ENSG00000171608,ENST00000377346,ENSP00000366563,O00329,PK3CD_HUMAN,V576I,Likely_benign,0.0001356571,0.393,0.418,0.7996,0.4332,0.185,0.855,-0.79,0.172,-0.8729,0.1888,0.046198517,0.028903,0.092,0.16794349398410907,0.638864161757,0.18121546620473844,0.786526509443,0.474827736616,0.5169898333333333,-0.394699,0.0219144483483493,0.7488250000000001,0.4962152,-6.865243944444444,0.1009,0.0800917169091228,0.35044184,0.072,.;.;.;.;.;.;.;.;.,23.6,0.99314244028674348,0.567641,0.143767982806631,5.14,3.35,4.595000,6.599000,0.676000,1.000000,1.000000,0.630000,835 | |
| 1,9787040,G,A,rs759704849,PIK3CD,ENSG00000171608,ENST00000377346,ENSP00000366563,O00329,PK3CD_HUMAN,R1024H,Likely_pathogenic,3.982477e-06,0.0745,0.175,0.9996,0.9578,0.29000000000000004,1.32,-2.045,0.55,-0.1759,0.5051,0.42041838,0.080226,0.426,0.25596592922973865,0.889459104141,0.7300704143288385,2.29858608404,0.830092132092,0.19811700000000002,-0.146142,0.927181899547577,0.9194413333333333,0.39930534,-8.535128166666667,0.5893999999999999,0.906107677889869,0.02982287,0.323,.;.;.;.;.;.;.;.;.,33.0,0.99394895083609913,0.774586,0.400229062024645,3.69,4.43,6.923000,9.821000,0.672000,0.999000,1.000000,0.990000,824 | |
| 1,10042412,G,A,rs202057799,NMNAT1,ENSG00000173614,ENST00000377205,ENSP00000366410,Q9HAN9,NMNA1_HUMAN,V165I,Likely_benign,0.0004574347,0.298,0.428,0.004,0.02,0.0,0.94,-0.59,0.072,-0.1128,0.7399,0.020071208,0.040338,0.204,0.14744085585872088,0.506673610527,0.46261874728590124,0.0415236237448,0.358950048685,0.381713,-0.218758,0.0154453521024627,.,0.04181643,-2.848055,0.0781,0.00566628048001441,0.02983923,0.222,.,15.68,0.97544555428346102,0.068271,-0.546089594623594,3.22,.,0.785000,3.723000,0.676000,0.211000,1.000000,0.949000,648 | |
| 1,10042548,T,C,.,NMNAT1,ENSG00000173614,ENST00000377205,ENSP00000366410,Q9HAN9,NMNA1_HUMAN,I210T,Pathogenic,0.0,0.001,0.001,1.0,0.998,0.83,4.01,-4.87,0.897,1.1015,0.9534,0.9652356,0.570956,0.976,0.8302941870463314,0.994800574866,0.9632012482726647,0.334922798568,0.763816714287,0.780869,0.571847,0.998538494110107,.,0.94383293,-11.319089,0.9111,0.989959727162368,0.82700780,0.997,.,27.0,0.99859698208917036,0.884556,0.804007553156368,5.16,4.44,7.776000,7.773000,0.665000,1.000000,1.000000,0.489000,643 | |
| 1,10357076,T,A,.,KIF1B,ENSG00000054523,ENST00000263934,ENSP00000263934,O60333-2,KIF1B_HUMAN,F615L,Benign,0.0,0.003,0.056571428571428564,0.9639999999999999,0.7528333333333334,0.542,2.945,-5.3519999999999985,0.6907142857142858,-0.1265,0.5188,0.5790906328571428,0.105698,0.546,0.416111765953127,0.7923378043850001,0.8470399147650085,2.09720861061,0.896490931511,0.819856,0.212259,0.985202848911285,0.929307,0.77205527,-10.246486727272726,0.9995000000000002,0.965984590207927,0.93499760,0.62,.;.;.;.;.;.;.;.;.;.;.,23.7,0.99859018465707217,0.352630,0.285850263794065,2.36,0.401,2.269000,1.502000,0.663000,1.000000,1.000000,0.989000,238 | |
| 1,10397496,C,A,rs199805720,KIF1B,ENSG00000054523,ENST00000263934,ENSP00000263934,O60333-2,KIF1B_HUMAN,N1063K,Likely_benign,0.000103383,0.008,0.404,0.008,0.005,0.24,0.0,-1.1233333333333333,0.1558,-0.9878,0.1401,0.016806722,0.013079,0.059,0.37597368753663357,0.552154753999,0.21922124910278268,0.479942535659,0.385495841503,0.297413,-0.486112,0.145663976669312,0.9136286,0.08369044,-11.933187444444444,0.23868,0.0153156697041834,0.00905788,0.11,.;.;.;.;.;.;.;.;.,20.7,0.99286078235441133,0.188865,-0.262284220346636,2.76,4.0,-0.034000,2.197000,0.597000,0.873000,1.000000,1.000000,227 | |
| 1,10421086,G,T,rs760253167,KIF1B,ENSG00000054523,ENST00000263934,ENSP00000263934,O60333-2,KIF1B_HUMAN,L1339F,Likely_benign,1.59066e-05,0.002,0.013000000000000001,0.9975,0.9520000000000001,0.5133333333333333,3.0050000000000003,-3.2099999999999995,0.8019999999999999,0.1615,0.6337,0.75906515,0.195122,0.758,0.7849630952636354,0.879616452082,0.7441616391144531,1.30944796661,0.832593679428,0.740506,0.282287,0.971949577331543,0.9854009999999999,0.46836236,-11.469916777777778,0.6856199999999999,0.448285589185635,0.95910656,0.56,.;.;.;.;.;.;.;.;.,23.8,0.99852138184785955,0.311231,0.436795824171868,3.69,2.94,1.899000,7.255000,0.674000,1.000000,1.000000,0.996000,219 | |
| 1,10421861,G,A,rs754234374,KIF1B,ENSG00000054523,ENST00000263934,ENSP00000263934,O60333-2,KIF1B_HUMAN,G1382S,Likely_benign,1.592014e-05,0.13933333333333334,0.6634,0.9724999999999999,0.752,0.6333333333333333,1.79,-3.626666666666667,0.5254,-0.4247,0.4022,0.31180316,0.056369,0.441,0.5526420973039917,0.781989843569,0.6147922998875209,1.03194949596,0.835839748383,0.587572,0.0337107,0.861447870731354,0.905909,0.52109665,-7.109201222222222,0.14966,0.289632092812795,0.88322340,0.503,.;.;.;.;.;.;.;.;.,28.3,0.9986254401105441,0.886154,0.515667650772357,4.84,4.25,8.154000,9.792000,0.674000,1.000000,1.000000,0.994000,219 | |
| 1,10425498,G,A,rs375130478,KIF1B,ENSG00000054523,ENST00000263934,ENSP00000263934,O60333-2,KIF1B_HUMAN,R1469H,Likely_benign,1.194134e-05,0.03133333333333333,0.0262,0.98375,0.77225,0.22,1.665,-4.353333333333333,0.46840000000000004,0.1326,0.5674,0.38833505,0.058172,0.468,0.4235563881285528,0.716309688678,0.7194475622831527,1.0049612526,0.653871238232,0.729248,0.0102607,0.971570730209351,0.9493649999999999,0.30629894,-10.704266555555556,0.26718000000000003,0.440226491646447,0.94738626,0.358,.;.;.;.;.;.;.;.;.,26.2,0.9994752153300811,0.663888,0.682268889930486,5.48,4.56,5.025000,7.506000,0.674000,1.000000,1.000000,0.997000,220 | |
| 1,10434394,G,A,rs373439616,KIF1B,ENSG00000054523,ENST00000263934,ENSP00000263934,O60333-2,KIF1B_HUMAN,R1610Q,Likely_benign,0.00027894,0.059666666666666666,0.5866,0.07725,0.01225,0.09000000000000001,2.36,-2.433333333333333,0.2694,-1.0601,0.0294,0.01193586,0.004762,0.102,0.1604453078428475,0.549749479801,0.4681934686021654,0.491317183706,0.405535072088,0.414123,-0.473342,0.0394504329090242,0.9199079999999998,0.22588658,-4.64494148888889,0.17206000000000002,0.0755062621182909,0.09013911,0.235,.;.;.;.;.;.;.;.;.,21.1,0.99716056359719751,0.513389,-0.0817664052811999,3.75,2.89,5.359000,1.318000,0.669000,1.000000,0.486000,0.994000,233 | |
| 1,11082359,G,T,.,TARDBP,ENSG00000120948,ENST00000240185,ENSP00000240185,Q13148,TADBP_HUMAN,G298V,Likely_pathogenic,0.0,0.009,0.027,0.063,0.026,0.78,1.975,-1.31,0.811,0.3603,0.7497,0.5247545,0.069343,0.454,0.7723235457192763,0.922892325082,0.8896551934027491,1.13360594399,0.755890607834,0.3978176666666667,0.176683,0.560356140136719,0.909309,0.7430288,-7.135844400000001,0.18463333333333332,0.998491584182644,0.99963641,0.839,.;.;.,21.7,0.98077737701742163,0.720029,0.35104424063369,5.81,2.52,5.097000,11.812000,0.676000,1.000000,1.000000,0.998000,847 | |
| 1,11082526,C,G,.,TARDBP,ENSG00000120948,ENST00000240185,ENSP00000240185,Q13148,TADBP_HUMAN,Q354E,Likely_pathogenic,0.0,0.086,0.785,0.009,0.005,0.7,1.1,-1.02,0.39,0.4300,0.8134,0.24320224,0.063553,0.379,0.5312309797172204,0.907676891876,0.9320073351139648,1.01427709794,0.51304936409,0.378578,-0.00262856,0.362805664539337,0.920308,0.47858274,-7.573384,0.23225,0.98299301451824,0.99930490,0.627,.;.,21.6,0.94840565700525159,0.759576,0.2572758474198,5.81,2.79,4.355000,7.651000,0.599000,1.000000,1.000000,0.924000,847 | |
| 1,11082595,T,C,.,TARDBP,ENSG00000120948,ENST00000240185,ENSP00000240185,Q13148,TADBP_HUMAN,S377P,Likely_pathogenic,0.0,0.128,0.221,0.001,0.001,0.35,1.445,-0.51,0.277,0.3674,0.7705,0.22405761,0.076402,0.287,0.7185232593235349,0.696323075424,0.749786734874784,2.25880593895,0.611329913139,0.327156,-0.0785078,0.613140821456909,0.784022,0.24812225,-5.2448177,0.20825,0.961131868595261,0.99826020,0.715,.;.,24.2,0.99742862263012055,0.545325,0.10570708546771,5.81,.,3.491000,6.163000,0.665000,1.000000,1.000000,0.912000,847 | |
| 1,11169374,T,A,.,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,I2501F,Pathogenic,0.0,0.004,0.014,0.991,0.764,0.98,2.085,-3.2,0.841,-0.7115,0.1753,0.80498207,0.077108,0.584,0.8902778437768007,0.927242546357,0.9751294704461619,3.01023712014,0.92651617527,0.680607,0.097426,0.948534499085207,0.947505,0.6469135,-9.939822,0.9488,0.997520956353717,0.96019965,0.979,.;.;.,24.7,0.97591698018994544,0.878442,0.776365577413272,5.82,3.89,7.449000,7.887000,0.609000,1.000000,1.000000,0.997000,475 | |
| 1,11169375,A,C,rs1057519915,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,I2500M,Likely_pathogenic,0.0,0.001,0.002,0.998,0.944,0.36,3.215,-2.43,0.762,-0.9226,0.1500,0.53412277,0.162249,0.368,0.7468105193913679,0.82424379714,0.9048857647246855,2.53490677304,0.901589155197,0.560963,-0.0170212,0.978914618492126,0.957704,0.6883156,-8.7993145,0.9545,0.999386092071633,0.94409144,0.88,.;.;.,18.93,0.9958898358341125,0.232039,0.0718207970273223,-2.33,-0.594,0.189000,0.035000,0.691000,0.937000,0.036000,0.998000,475 | |
| 1,11174395,A,G,rs1085307113,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,L2427P,Pathogenic,0.0,0.001,0.002,1.0,0.998,0.95,3.165,-5.92,0.948,0.4992,0.6734,0.93887395,0.71989,0.924,0.9586787703128424,0.984943170377,0.9853707822110074,3.28525368344,0.915442466736,0.902085,0.376267,0.993828475475311,0.986301,0.978815,-13.456083,0.9993,0.999992168577795,0.99145380,0.992,.;.;.,26.2,0.99893627773926597,0.953349,0.904057910677996,5.89,.,8.911000,11.182000,0.756000,1.000000,1.000000,0.998000,406 | |
| 1,11174420,C,T,rs587777900,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,E2419K,Pathogenic,0.0,0.0,0.0,1.0,1.0,0.91,3.425,-3.55,0.923,0.8354,0.8153,0.9442564,0.818842,0.911,0.9361081490665126,0.96440118087,0.9849819295108669,2.6492091948,0.89018034935,0.794014,0.418431,0.999650001525879,0.997831,0.9348007,-13.496395,0.999,0.999997144173474,0.99287530,0.997,.;.;.,28.5,0.99939143193972757,0.831371,0.977469504487951,5.89,3.37,7.539000,7.650000,0.599000,1.000000,1.000000,0.990000,406 | |
| 1,11174437,C,A,.,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,S2413I,Pathogenic,0.0,0.0,0.0,1.0,1.0,0.94,3.005,-5.33,0.912,0.3565,0.6417,0.8964882,0.583834,0.798,0.8573071421018239,0.961186802358,0.9342286442859998,2.73687855107,0.825548171997,0.805829,0.352157,0.999795496463776,0.987268,0.9556917,-14.52941,0.996,0.999993974184342,0.99171360,0.975,.;.;.,26.1,0.99613912408906202,0.880814,0.915228102266438,5.89,.,7.539000,7.648000,0.599000,1.000000,1.000000,0.997000,406 | |
| 1,11188116,T,C,rs373390383,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,K1993R,Benign,6.36253699999999e-05,0.205,0.358,0.004,0.006,0.65,0.99,-1.43,0.624,-0.5200,0.3811,0.2953254,0.042998,0.197,0.41144027486485846,0.812927789371,0.4675199135355305,0.669181374515,0.886266469955,0.367398,-0.126039,0.070364493518476,0.89621,0.22643577,-5.868488,0.0919,0.970134812633505,0.71071740,0.555,.;.;.,24.1,0.99686898641310662,0.886337,0.25274857128747,5.8,.,7.645000,7.879000,0.665000,1.000000,1.000000,0.998000,375 | |
| 1,11188964,T,C,rs753081675,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,N1920S,Benign,6.771775e-05,0.322,0.402,0.521,0.186,0.48,0.625,-1.06,0.531,-0.3474,0.4054,0.27668115,0.035816,0.357,0.6792183126588272,0.662626482119,0.4914209760341861,0.72615468568,0.781273603439,0.446509,-0.244228,0.0899221583554024,0.966603,0.20735776,-7.4938617,0.1537,0.806345263048623,0.61130130,0.548,.;.;.,21.5,0.98690074594784061,0.881876,0.38352240583523,6.06,.,7.645000,5.096000,0.665000,1.000000,1.000000,0.948000,372 | |
| 1,11189849,C,A,.,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,G1887V,Likely_pathogenic,0.0,0.001,0.002,1.0,0.998,0.82,3.35,-7.47,0.937,0.7805,0.7883,0.93193126,0.743569,0.889,0.8728913444659453,0.965844322785,0.948589533468475,2.12493175433,0.879965543747,0.727449,0.383955,0.99566112507395,0.952205,0.95586836,-17.429281,0.9968,0.999964882335154,0.99544250,0.977,.;.;.,25.0,0.99811545447807537,0.903102,0.963840426900118,5.79,.,7.537000,7.637000,0.599000,1.000000,1.000000,0.973000,369 | |
| 1,11189879,A,G,.,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,L1877P,Likely_benign,0.0,0.002,0.002,0.989,0.767,0.92,1.47,-2.01,0.981,0.1286,0.5326,0.93478256,0.513763,0.817,0.9359963632871952,0.992166527584,0.9398873413704212,2.24940525845,0.869814157486,0.448015,0.324815,0.915669286062259,0.893911,0.8837839,-11.774184999999997,0.8643,0.98935071507306,0.99367374,0.748,.;.;.,26.1,0.99909094894319672,0.957445,0.735425658940811,5.79,3.53,8.911000,11.163000,0.756000,1.000000,1.000000,0.987000,369 | |
| 1,11190590,G,C,rs536888206,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,T1870S,Benign,4.036881e-05,0.478,0.495,0.0,0.002,0.25,0.09,-0.4,0.213,-1.0127,0.0145,0.049815267,0.003273,0.112,0.1649821467031991,0.187035705434,0.2632001218020456,0.722601246418,0.632165312767,0.265858,-0.60723,0.113819513250143,0.763224,0.12184807,-2.600702,0.074,0.398822511882062,0.25370267,0.103,.;.;.,26.5,0.90659098062253629,0.602994,-0.0411414500776333,5.43,3.22,4.655000,11.797000,0.618000,1.000000,1.000000,0.961000,366 | |
| 1,11190698,G,A,rs142403193,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,T1834M,Benign,0.0003753572,0.145,0.11,0.995,0.987,0.06,0.695,-0.29,0.317,-1.0900,0.0303,0.07903725,0.024845,0.06,0.17396815625643286,0.546983862782,0.19065643298864526,1.86911652642,0.488352656364,0.35825,-0.524769,0.0440425541616145,0.761624,0.020991227,-7.6816697,0.1121,0.0380181644553944,0.67217220,0.055,.;.;.,21.1,0.9948124908474093,0.199076,0.00359485883449438,3.24,.,2.318000,3.135000,0.618000,0.984000,1.000000,0.028000,366 | |
| 1,11190726,T,C,rs748927495,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,I1825V,Benign,1.229397e-05,0.624,0.72,0.0,0.0,0.08,0.46,-0.01,0.183,-0.9288,0.0144,0.04673496,0.003375,0.053,0.06037644483066895,0.24933006939,0.08671036509683942,0.777272365616,0.369834452868,0.303578,-0.714595,0.0186305009964839,0.616038,0.021317698,-2.6833122,0.0676,0.203914291392499,0.42953410,0.051,.;.;.,8.871,0.6790426563207157,0.152498,-0.686537376303578,0.565,2.18,-0.002000,0.290000,0.609000,0.988000,0.997000,0.689000,366 | |
| 1,11193147,C,T,.,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,S1785N,Benign,0.0,1.0,1.0,0.0,0.0,0.27,-0.375,0.33,0.261,-0.9464,0.0786,0.1821357,0.002859,0.135,0.12667304891187786,0.386200742333,0.0743520597460186,0.749930118702,0.761618971825,0.25582,-0.548396,0.724815189838409,0.889711,0.115218386,-2.418857,0.0646,0.00495339941378177,0.34202820,0.157,.;.;.,21.4,0.89948178138676593,0.196036,-0.0626406668462194,4.74,.,4.547000,4.023000,0.599000,1.000000,1.000000,0.993000,358 | |
| 1,11199365,C,T,rs587777895,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,R1709H,Likely_benign,8.236825e-06,0.243,0.234,0.999,0.994,0.41,0.975,-1.18,0.513,-0.4521,0.3298,0.5325632,0.018927,0.345,0.5488163374040217,0.721744442009,0.40087101242139045,1.67543599293,0.806839823723,0.303891,-0.0415739,0.472203759579552,0.927707,0.14297149,-6.1556354,0.0892,0.66708154080415,0.98285760,0.144,.;.;.,22.7,0.99796873451376911,0.705056,0.542300300562218,5.91,.,5.614000,3.938000,0.599000,1.000000,1.000000,0.546000,341 | |
| 1,11199648,T,C,rs763310387,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,H1647R,Benign,3.976491e-06,0.71,0.717,0.968,0.969,0.59,0.32,-0.41,0.718,-0.6771,0.3044,0.78442013,0.021888,0.471,0.6143863476040008,0.876104456395,0.522574168243978,1.06691362479,0.724076747894,0.292423,0.0164725,0.517378687858582,0.90401,0.3457945,-6.361338,0.0786,0.877639001371929,0.98445110,0.156,.;.;.,22.3,0.98074454428312308,0.846002,0.534752690896695,5.91,.,7.535000,7.751000,0.665000,1.000000,1.000000,0.985000,341 | |
| 1,11206828,C,G,.,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,E1531Q,Likely_benign,0.0,0.125,0.196,0.991,0.982,0.64,1.31,-1.45,0.647,-0.2835,0.4420,0.71432185,0.062719,0.414,0.5147981784535024,0.736016617135,0.4211996207016436,1.89753283995,0.815786063671,0.386534,-0.0237015,0.92745041847229,0.945705,0.3938532,-7.090521133333333,0.4792,0.986704280826297,0.88936216,0.561,.;.;.,23.8,0.99261068700673083,0.893270,0.746594205705074,5.86,3.63,7.539000,7.605000,0.599000,1.000000,1.000000,0.998000,334 | |
| 1,11210231,T,A,.,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,T1508S,Benign,0.0,0.408,0.411,0.034,0.011,0.35,0.815,-0.72,0.325,-0.9497,0.1504,0.19885418,0.006726,0.035,0.21086675036344538,0.565853658169,0.32897722003741703,0.72451315937,0.823231458664,0.328076,-0.312551,0.78202748298645,0.830117,0.19644216,-4.792604166666667,0.1174,0.931165717092277,0.28616980,0.301,.;.;.,22.7,0.9738937108274156,0.738945,0.135832144905696,5.16,.,5.860000,7.851000,0.665000,1.000000,1.000000,0.999000,334 | |
| 1,11217239,C,T,rs780930764,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,R1480H,Likely_benign,4.018582e-06,0.206,0.197,0.007,0.0,0.54,1.67,-1.24,0.76,-0.9209,0.1823,0.57883745,0.07756,0.305,0.6119312715263219,0.918647136299,0.7925565107481685,1.96159394134,0.867091298103,0.47173,0.152686,0.789622366428375,0.963604,0.3613158,-6.848557666666667,0.1777,0.995532310716179,0.80174360,0.851,.;.;.,28.6,0.99603753355757962,0.854455,0.261354089158482,5.32,.,7.536000,7.629000,0.599000,1.000000,1.000000,0.999000,332 | |
| 1,11269379,T,C,rs1010121578,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,N1264S,Benign,0.0,0.211,0.673,0.003,0.005,0.2,0.91,-2.63,0.265,-1.0356,0.0225,0.24903649,0.002667,0.141,0.3165881978484801,0.311889312631,0.39383477121753546,0.640609023037,0.72982531786,0.656837,-0.618261,0.435101002454758,0.964304,0.15944943,-1.8985315333333332,0.0696,0.757365844784938,0.05213601,0.137,.;.;.,21.9,0.86685601663395517,0.639735,0.14571666131445,5.65,.,6.007000,7.884000,0.665000,1.000000,1.000000,0.998000,293 | |
| 1,11270879,T,C,rs760415071,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,I1216V,Likely_benign,4.424636e-05,0.104,0.083,0.518,0.456,0.39,0.86,-0.71,0.59,-0.5525,0.2889,0.40947956,0.020794,0.177,0.3293824181613481,0.710168038048,0.24863160673296722,1.13460432255,0.848096132278,0.354702,-0.180072,0.102439058876671,0.907609,0.16404063,-6.7352716,0.2929,0.797160852186766,0.13855569,0.081,.;.;.,22.9,0.9950392249765414,0.875303,0.547492305575294,5.95,5.93,7.637000,7.847000,0.597000,1.000000,1.000000,0.993000,291 | |
| 1,11270897,C,T,rs753162263,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,D1210N,Benign,2.399731e-05,0.14,0.145,0.598,0.135,.;.;.,1.415,-2.31,0.806,-0.6786,0.2325,0.61389434,0.012591,0.209,0.5006819079817937,0.515165384546,0.6657449759203823,0.785982300756,0.844303488731,0.678701,-0.299721,0.414659738540649,0.965103,0.3065069,-5.928863733333333,0.5305,0.973578215085755,0.03786814,0.218,.;.;.,23.5,0.99874947056340502,0.853121,0.50370569208355,5.95,5.93,7.532000,7.632000,0.539000,1.000000,1.000000,0.984000,291 | |
| 1,11270902,C,T,rs1481407496,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,R1208H,Likely_benign,2.000032e-05,0.089,0.116,0.998,0.964,0.4,1.81,-2.36,0.779,-0.2295,0.4511,0.85895956,0.163144,0.421,0.6818425479686478,0.78389139128,0.6148357475012527,1.82181212601,0.835865318775,0.552227,0.0159016,0.846257925033569,0.983002,0.1989511,-5.562719766666667,0.4871,0.993979331410139,0.29489997,0.32,.;.;.,27.5,0.99917186585992879,0.873189,0.851391763227594,5.95,.,7.532000,7.632000,0.539000,1.000000,1.000000,0.996000,291 | |
| 1,11272422,G,A,rs746532612,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,R1170C,Likely_benign,7.9621e-06,0.0,0.001,0.999,0.683,.;.;.,3.3,-7.18,0.845,0.4665,0.5970,0.90711486,0.615775,0.782,0.6070860391759391,0.904010285951,0.8045590138815608,2.071766814,0.809742331505,0.878249,0.288222,0.995573401451111,0.984801,0.8439585,-7.741707666666667,0.5723,0.999581365439695,0.70763010,0.718,.;.;.,31.0,0.99929081514073004,0.785098,0.762782241563572,5.15,4.8,6.132000,11.818000,0.676000,1.000000,1.000000,0.996000,291 | |
| 1,11272432,G,T,.,MTOR,ENSG00000198793,ENST00000361445,ENSP00000354558,P42345,MTOR_HUMAN,S1166R,Likely_benign,0.0,0.297,0.34,0.037,0.013,0.27,1.76,-2.02,0.447,-0.8374,0.2043,0.20803311,0.006068,0.185,0.2857855634745058,0.659701244345,0.5136214672580023,0.927983810509,0.714483141899,0.44758,-0.246875,0.586137056350708,0.970303,0.4381533,-6.711075266666666,0.9344,0.986584600208089,0.18454278,0.129,.;.;.,22.7,0.99160392074417936,0.212347,0.121483626789156,5.15,2.94,1.162000,4.543000,0.676000,1.000000,1.000000,0.999000,291 |