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Gene
stringlengths
2
9
Variation
stringlengths
3
6
CS
stringclasses
2 values
SIFT_score
float64
0
1
SIFT4G_score
float64
0
1
Polyphen2_HDIV_score
float64
0
1
Polyphen2_HVAR_score
float64
0
1
LRT_score
float64
0
1
MutationTaster_score
float64
0
1
MutationAssessor_score
float64
-4.75
5.59
FATHMM_score
float64
-12.4
9.83
PROVEAN_score
float64
-13.97
12.4
VEST4_score
float64
0
1
MetaSVM_score
float64
-1.5
1.56
MetaLR_score
float64
0
1
MetaRNN_score
float64
0
1
M-CAP_score
float64
0
1
REVEL_score
float64
0
1
MutPred_score
float64
0.03
1
MVP_score
float64
0.01
1
gMVP_score
float64
0
1
MPC_score
float64
0
5
PrimateAI_score
float64
0.15
0.97
DEOGEN2_score
float64
0
1
BayesDel_addAF_score
float64
-0.93
0.74
BayesDel_noAF_score
float64
-1.21
0.83
ClinPred_score
float64
0
1
LIST-S2_score
float64
0
1
DANN_score
float64
0.03
1
fathmm-MKL_coding_score
float64
0
1
fathmm-XF_coding_score
float64
0.01
0.99
GenoCanyon_score
float64
0
1
integrated_fitCons_score
float64
0
0.84
GM12878_fitCons_score
float64
0
0.96
H1-hESC_fitCons_score
float64
0
0.86
HUVEC_fitCons_score
float64
0
0.84
CADD_score
float64
-2.8
8.31
Eigen_score
float64
-2.92
1.25
Eigen-PC_score
float64
-2.99
1.14
GERP++_score
float64
-12.3
6.17
phastCons100way_vertebrate_score
float64
0
1
phastCons470way_mammalian_score
float64
0
1
phastCons17way_primate_score
float64
0
1
SiPhy_score
float64
0.01
36.1
bStatistic_score
float64
0
1k
AlphaMissense_score
float64
0.03
1
Envision_score
float64
0.47
1.12
SuSPect_score
float64
0
100
VARITY_R_score
float64
0.01
1
VARITY_ER_score
float64
0.01
0.99
VARITY_R_LOO_score
float64
0.01
1
VARITY_ER_LOO_score
float64
0.01
0.99
PONP2_score
float64
0
1
DeepSAV_score
float64
0
1
VESPA_score
float64
-1
0.89
ESM1b_score
float64
-22.2
9.82
CPT_score
float64
0
0.92
EVE_score
float64
0.01
1
ESM1v_score
float64
-20.55
6.94
MutFormer_score
float64
0
1
MISTIC_score
float64
0.01
0.99
InMeRF_score
float64
0
1
LASSIE_score
float64
0
0
CAPICE_score
float64
0
1
SIGMA_score
float64
0
1
MutScore_score
float64
0
1
UNEECON_score
float64
0
0.98
PhDSNP_score
float64
0
1
gnomAD_exomes_AF
float64
0
1
B3GALT6
P36T
Benign
0.277
0.474
0.117
0.01
0.07395
0.722975
1.04
0.89
-0.52
0.006
-1.0617
0.0343
0.118694
0.368316
0.017
0.315
0.265929
0.224373
1.764603
0.847084
0.005697
-0.329271
-0.710752
0.110421
0.324568
0.973412
0.50184
0.044857
1
0.437478
0.218748
0.391439
0.603991
0.850841
-1.172362
-1.222305
-0.82
0.552
0
0.05
6.1685
745
0.0829
0.978582
26
0.042542
0.07229
0.042542
0.07229
0.049
0.13158
0.324823
-5.844
0.08653
null
-5.549818
0.236341
0.122843
0.008333
0.00005
0.0004
0.106588
0.051
0.00967
0.019
null
ATAD3A
R218W
Pathogenic
0
0
1
0.999
0
0.999925
3.105
-2.17
-6.74
0.829
0.681
0.8041
0.776024
0.129814
0.337
0.394
0.957229
0.746304
1.105275
0.885202
0.36522
0.182592
0.024504
0.994911
0.969603
0.998396
0.74536
0.486089
0.001597
0.706548
0.702456
0.724815
0.714379
3.756281
0.352959
0.161313
-0.33
0.993
0.998
0.869
11.4861
846
0.876
0.733077
56
0.742973
0.545136
0.742973
0.545136
0.252
0.21787
0.604989
-14.373
0.548098
0.729926
-11.178408
0.028874
0.816256
0.540628
0.000549
0.0999
0.248666
0.931
0.279771
0.352
0.000004
ESPN
R113C
Benign
0.022
0
1
0.999
0.000001
1
1.48
-0.21
-6.41
0.894
-0.4081
0.3349
0.099449
0.078787
0.448
null
0.738976
0.506611
0.742892
0.746618
0.227352
-0.115348
0.015983
0.44289
0.986964
0.999391
0.9273
0.753234
1
0.615755
0.618376
0.578056
0.542086
4.413077
0.562535
0.557722
4.48
1
1
0.998
11.1908
834
0.5274
0.719329
41
0.387744
0.384293
0.376235
0.338062
0.884
0.85951
0.568282
-13.379
0.353912
null
-8.344957
0.00749
0.498265
0.269644
0.000575
0.3742
0.932046
0.589
0.100829
0.943
0.000509
CAMTA1
I589V
Benign
0.266
0.68
0.913
0.891
0
0.998648
1.04
2.03
-0.25
0.435
-1.1106
0.0855
0.295159
0.01215
0.171
0.101
0.477087
0.274977
1.210556
0.611595
0.009363
-0.133856
-0.430052
0.941158
0.929107
0.985151
0.93177
0.757775
0.984883
0.487112
0.573888
0.578056
0.613276
2.09754
0.434022
0.471921
5.28
1
1
0.471
15.2091
913
0.2024
0.931455
12
0.091227
0.106668
0.091227
0.106668
0.244
0.03252
0.194558
-6.993
0.133971
0.270299
null
0.002471
0.092241
0.360028
0.000299
0.0015
0.037401
0.083
0.072069
0.725
null
CAMTA1
R1135W
Pathogenic
0.002
0.007
1
0.982
0
0.999962
1.59
1.39
-4.82
0.881
-0.8636
0.1544
0.814788
0.029695
0.276
0.495
0.741308
0.879549
1.410327
0.908644
0.229658
0.195738
0.043387
0.99276
0.958004
0.999226
0.91467
0.491099
0.475749
0.615465
0.59043
0.658983
0.613276
3.823633
0.469912
0.47587
4.98
0.995
0.124
0.872
14.1324
792
0.8709
0.776444
17
0.475032
0.413401
0.475032
0.413401
0.923
0.47667
0.515913
-9.403
0.469532
0.639527
null
0.504112
0.37355
0.372786
0.000523
0.0035
0.597415
0.481
0.533895
0.948
null
RERE
H1272R
Benign
0.049
0.039
0.998
0.997
null
0.999999
2.79
0.71
-5.84
0.5345
-0.7108
0.2615
0.637447
0.023648
0.482
0.831
0.931653
0.87246
0.434266
0.738739
0.646793
0.265138
0.143076
0.927787
0.939106
0.997973
0.87447
0.567177
0.999999
0.706548
0.702456
0.724815
0.714379
3.617604
0.62059
0.616462
5.46
1
1
1
15.019
867
0.9847
0.85311
37
0.465421
0.59064
0.465421
0.59064
0.79
0.13031
0.380604
-17.288
0.22024
0.49285
null
0.956913
0.772293
0.907888
0.000479
0.0739
0.854733
0.828
0.223556
0.899
null
ATP13A2
R460Q
Benign
0.027
0.179
0.999
0.941
0.000003
0.993584
3.47
-2.77
-1.11
0.634
0.8274
0.842
0.64134
0.372848
0.723
null
0.888346
0.92119
1.151938
0.495225
0.42931
0.086203
0.122717
0.857145
0.932107
0.999452
0.92243
0.418686
0.622219
0.706298
0.709663
0.723109
0.714379
3.934383
0.600661
0.494566
4.15
0.554
1
0.984
9.283
846
0.2524
0.840392
42
0.145468
0.128773
0.145468
0.128773
0.683
0.70937
0.444343
-9.898
0.322294
0.368621
null
0.871801
0.674682
0.794372
0.000546
0.0435
0.85178
0.16
0.234171
0.438
0.000012
ATP13A2
R76Q
Benign
0.343
0.510333
0.665
0.174
0.002711
0.549747
2.645
1.82
-0.81
0.422333
-0.9293
0.0843
0.217504
0.043455
0.092
0.568
0.410337
0.703653
1.088519
0.384832
0.06676
-0.210863
-0.457801
0.561535
0.929107
0.999192
0.3317
0.095048
0.996652
0.706548
0.633656
0.723109
0.714379
3.175661
0.225844
0.237309
3.16
0.999
0.999
0.988
1.3476
846
0.0899
0.865916
34
0.026279
0.034028
0.026279
0.034028
0.332
0.3949
0.403814
-4.983
0.215795
0.15854
null
0.173422
0.231392
0.134012
0.00023
0.0134
0.055034
0.089
0.104345
0.269
0.000004
EMC1
L277R
Benign
0.005
0.02
0.8315
0.386
0.024494
0.999987
1.78
1.875
-2.315
0.5995
-1.1172
0.0743
0.59269
0.013478
0.203
0.614
0.56935
0.730222
0.787874
0.481944
0.019198
0.035926
-0.186171
0.785631
0.919808
0.996391
0.90257
0.678481
0.99997
0.706548
0.724815
0.724815
0.714379
3.400137
0.396016
0.451628
5.72
0.999
1
0.88
14.8444
778
0.145
0.858703
23
0.460009
0.308941
0.460009
0.308941
0.5
0.44787
0.42672
-6.93
0.462796
0.612936
-7.094535
0.008864
0.376946
0.127282
0.000447
0.001
0.076784
0.505
0.218704
0.819
null
HSPG2
S2446L
Benign
0.278
0.072
0.967
0.612
0.004714
0.60539
0.08
-0.09
-2.15
0.637
-0.7305
0.191
0.316536
0.03567
0.228
null
0.700718
0.323927
0.593412
0.541868
0.174692
-0.32124
-0.247445
0.084578
0.845515
0.996196
0.91584
0.588163
0.99908
0.706548
0.588066
0.724815
0.711
3.558788
0.19907
0.199184
5.29
1
1
0.082
11.5368
829
0.1121
0.829275
14
0.063738
0.087418
0.063738
0.087418
0.436
0.21512
0.405652
-7.618
0.233766
null
null
0.499619
0.270721
0.35097
0.000313
0.0002
null
0.108
0.104366
0.194
0.000443
HSPG2
R1478H
Benign
0
0
1
0.998
0.002209
0.999999
3.49
1.08
-4.52
0.651
-0.2354
0.3327
0.95268
0.046468
0.544
0.885
0.569279
0.801678
0.874967
0.729586
0.392296
0.014783
-0.053902
0.931746
0.959504
0.999361
0.9707
0.878659
1
0.67177
0.588066
0.723109
0.711
3.554574
0.745077
0.63564
5.31
1
1
0.656
16.4647
811
0.4914
0.778646
60
0.84057
0.700057
0.84057
0.700057
0.583
0.78485
0.427565
-10.15
0.3935
null
null
0.302217
0.473884
0.613681
0.000539
0.0148
null
0.56
0.46075
0.679
0.000028
WNT4
C338F
Benign
0
0
1
0.997
0.000001
1
4.14
-2.25
-9.05
0.924
0.9502
0.8475
0.989109
0.555322
0.944
0.879
0.994133
0.998511
2.253141
0.847569
0.960144
0.459411
0.422136
0.998963
0.999886
0.99334
0.99635
0.939778
1
0.536635
0.379588
0.489635
0.711
4.100865
0.882923
0.766559
4.16
1
1
0.998
15.5591
640
0.9976
0.811786
91
0.973824
0.975132
0.973824
0.975132
0.897
0.95938
0.830563
-15.573
0.828298
0.998168
-13.477514
0.990824
0.938087
0.944181
0.000586
0.2998
0.893998
0.921
0.786716
0.943
null
WNT4
E77V
Benign
0
0.001
1
0.996
0
1
3.07
-1.42
-6.21
0.926
0.5994
0.7105
0.977243
0.496371
0.96
0.839
0.994606
0.927935
1.993926
0.787866
0.953498
0.434593
0.386486
0.995663
0.989181
0.993544
0.99104
0.93212
0.999999
0.706298
0.588066
0.709663
0.613276
3.788461
0.832191
0.770377
5.25
1
1
0.845
13.9909
684
0.9924
0.837347
54
0.911671
0.804338
0.911671
0.804338
0.893
0.77093
0.581865
-16.003
0.564119
0.841747
-12.734918
0.856009
0.859008
0.741303
0.000547
0.444
0.31214
0.468
0.387116
0.71
null
ARID1A
D641A
Benign
0
0.1565
0.9995
0.9955
0
1
2.44
3.645
-6.26
0.592
-1.2065
0.0522
0.560968
0.028731
0.356
0.197
0.592076
0.659408
0.644195
0.818156
0.686737
0.066201
-0.142684
0.97934
0.920158
0.996376
0.99328
0.895882
1
0.706548
0.724815
0.643519
0.714379
4.706704
0.838151
0.82658
5.95
1
1
0.914
16.4237
420
0.988
0.837084
26
0.830354
0.74452
0.830354
0.74452
0.731
0.85613
0.573019
-10.61
0.167012
0.696319
null
0.946778
0.260866
0.369372
0.000582
0.6983
0.083091
0.617
0.625721
0.978
null
ARID1A
P293S
Benign
0
0.1665
0.986
0.7705
0.000001
0.999804
1.665
2.63
-4.11
0.1745
-1.119
0.0571
0.324828
0.529929
0.136
0.172
0.451585
0.709936
0.523116
0.947925
0.591749
-0.047483
-0.305982
0.977721
0.911209
0.989718
0.37918
0.436917
1
0.266657
0.484254
0.519653
0.492483
3.510431
0.313734
0.295402
2.75
1
1
0.997
11.7306
550
0.9331
0.853887
52
0.831116
0.841329
0.831116
0.841329
0.173
0.3647
0.648036
-12.162
0.1455
null
null
0.993048
0.02818
0.10035
0.000508
0.0121
0.221939
0.608
0.37809
0.713
null
ARID1A
G1711A
Benign
0.015
0.056
0.521
0.443
0
0.99845
2.24
3.47
-5.73
0.719
-0.3407
0.3857
0.662621
0.010293
0.307
0.429
0.765383
0.879941
1.503415
0.835491
0.699432
0.07884
-0.124528
0.986615
0.997888
0.992178
0.98004
0.907905
1
0.67177
0.702456
0.702456
0.711
3.260502
0.558189
0.60485
4.8
1
1
1
18.4153
408
0.7337
0.857184
41
0.886992
0.714828
0.886992
0.714828
0.656
0.86725
0.612273
-12.697
0.382325
0.744912
null
0.466789
0.730406
0.333441
0.000558
0.0053
0.216998
0.902
0.62013
0.897
null
AK2
G205E
Benign
0.005
0.027667
0.9865
0.901
0
1
2.99
-1.08
-6.46
0.896667
0.467
0.6711
0.045576
null
0.817
null
0.943654
0.75244
0.859197
0.655074
0.619816
0.373074
0.298119
0.885084
0.789521
0.998177
0.98744
0.8247
1
0.706548
0.702456
0.724815
0.714379
3.692906
0.814917
0.765905
5.17
1
1
0.996
19.5674
542
0.3429
0.89023
35
0.865872
0.810084
0.865872
0.810084
0.883
0.4228
0.315862
-8.894
0.463641
0.322472
-8.180334
0.155581
0.680478
0.691503
0.000573
0.0566
0.615251
0.697
0.239061
0.914
null
GJB3
F51V
Benign
0
0.002
1
0.998
0
1
3.935
-5.87
-6.8
0.9515
0.9913
0.989
0.989072
0.534993
0.98
0.916
0.989111
0.914456
0.449578
0.787949
0.952181
0.573928
0.602118
0.998463
0.979822
0.991243
0.9674
0.94354
1
0.713056
0.59043
0.608524
0.562822
3.78899
0.94473
0.849708
5.85
1
1
0.889
15.9218
905
0.9798
0.804079
88
0.973331
0.932873
0.973331
0.932873
0.675
0.83494
0.585817
-9.782
0.690469
0.933198
-10.97659
0.997097
0.698882
0.953083
0.000586
0.0353
0.523195
0.7
0.219246
0.897
0.000008
COL9A2
R640Q
Benign
0.121
0.268
1
0.956
0.000007
0.999974
1.02
-2.96
-1.48
0.355
0.6005
0.7867
0.531192
0.122461
0.495
0.343
0.918275
0.503385
0.743965
0.549289
0.299268
-0.017812
-0.057856
0.621333
0.935906
0.999425
0.98308
0.654636
1
0.67177
0.702456
0.645312
0.542086
3.705341
0.451464
0.427712
5.21
1
1
0.885
16.2802
442
0.0774
0.876615
7
0.152563
0.141186
0.152563
0.141186
0.606
0.45217
0.300789
-6.252
0.274268
null
-6.343989
0.017566
0.627166
0.631747
0.000271
0.0155
0.113111
0.161
0.075954
0.914
0.000044
COL9A2
G457S
Benign
0
0
1
0.994
0
1
3.905
-6.27
-5.27
0.529
1.0164
0.9902
0.984217
0.644638
0.952
0.946
0.96706
0.953153
0.918505
0.714405
0.626388
0.35249
0.268551
0.999378
0.959304
0.997724
0.95647
0.595703
0.999999
0.764865
0.643519
0.731555
0.542086
3.872536
0.689706
0.529467
3.62
1
1
0.073
10.701
423
0.6625
0.913575
76
0.848304
0.836815
0.848304
0.836815
0.479
0.95816
0.697472
-10.783
0.416528
null
-9.28112
0.091672
0.689377
0.766417
0.000531
0.0094
0.061395
0.828
0.331514
0.896
null
SLC2A1
G76R
Pathogenic
0.001
0.001
1
1
0
1
4.33
-0.79
-7.49
0.999
0.8233
0.7465
0.976456
0.594274
0.913
0.827
0.954055
0.993848
2.194446
0.899803
0.890557
0.420319
0.365982
0.999895
0.989934
0.999303
0.91493
0.949719
1
0.730579
0.749866
0.67197
0.6365
4.076675
1.004748
0.885568
5.24
1
1
0.995
16.3108
396
0.9967
0.788138
86
0.98672
0.972131
0.98672
0.972131
0.88
0.98373
0.607337
-14.435
0.850675
0.962012
-15.762895
0.999383
0.965705
0.934333
0.000581
0.9356
0.989625
0.971
0.854209
0.972
null
ST3GAL3
V199M
Pathogenic
0.000333
0.001
1
0.9998
0
1
3.925
0.266667
-2.596667
0.8925
0.3197
0.5408
0.841256
0.097599
0.618
null
0.741822
null
null
0.847903
0.593085
0.371154
0.295361
0.999542
0.996307
0.999013
0.99389
0.93169
1
0.706548
0.653731
0.659464
0.714379
4.130106
1.063954
0.985604
5.53
1
1
0.991
19.454
78
0.9661
0.787348
69
0.891477
0.800642
0.891477
0.800642
null
0.6313
0.620669
-12.844
0.687419
0.833786
-11.007897
0.300393
0.839303
0.741925
0.000584
0.0305
0.624786
0.468
0.712861
0.558
null
FOXE3
A255T
Benign
0.833
0.266
0.141
0.031
0.983799
0.999993
0.55
-3.38
-0.49
0.123
-0.488
0.547
0.142647
0.934542
0.232
0.243
0.407494
0.181911
null
0.853093
0.080982
-0.032383
-0.284293
0.108266
0.463654
0.975908
0.19429
0.044426
0.993226
0.59774
0.563428
0.608004
0.63947
0.879835
-1.156501
-1.104316
2.44
0
0.018
0.135
6.727
675
0.0877
0.993388
23
0.036275
0.072182
0.036275
0.072182
0.342
0.02835
0.286814
-5.663
0.060416
0.102603
-6.153307
0.097712
0.144654
0.2118
0.000006
0
0.052995
0.045
0.013809
0.116
null
ORC1
A97S
Pathogenic
0.293
0.707
0.007
0.005
0.082142
1
0.69
1.05
-0.36
0.1345
-1.0851
0.0474
0.031675
0.006128
0.06
null
0.201204
0.16761
0.171163
0.249904
0.164721
-0.552612
-0.648349
0.047531
0.360464
0.838367
0.11606
0.044248
0.993654
0.67177
0.702456
0.702456
0.635551
-0.155725
-1.439433
-1.463047
-5.04
0
0
0.43
0.2593
329
0.0775
0.929064
13
0.043605
0.040484
0.043605
0.040484
0.162
0.09281
0.261558
-3.262
0.121606
0.13183
-3.612407
0.002359
0.089431
0.066922
0.000016
0.0001
0.060622
0.079
0.0242
0.018
0.000115
DNAJC6
A220T
Benign
0.005
0.008
0.303
0.039
0.000086
0.937569
0.145
-3.13
-2.73
0.141
0.0245
0.5796
0.089717
0.083024
0.316
null
0.683253
null
null
0.464644
0.230575
-0.276348
-0.248993
0.088297
0.858514
0.972376
0.87085
0.148956
0.000539
0.638212
0.573888
0.653264
0.421255
2.076723
-0.223611
-0.238991
3.14
1
1
0.249
6.5489
757
0.0984
0.930205
11
0.162925
0.174689
0.162925
0.174689
null
0.2428
0.302732
-4.514
0.118537
null
-3.347874
0.080569
0.251166
0.439956
0.00037
0.0004
0.319932
0.292
0.123522
0.12
0.000411
COL11A1
K1443R
Benign
0.205
0.322
0.939
0.67
0
0.999997
0.855
-2.63
-1.52
0.538
0.0817
0.5008
0.602541
0.072205
0.546
0.456
0.80645
0.237376
0.094714
0.826743
0.630188
0.136229
-0.042093
0.850895
0.824218
0.99651
0.98856
0.830358
0.999938
0.706298
0.588015
0.709663
0.613276
3.38741
0.288475
0.402089
5.47
1
1
0.995
15.8566
928
0.0927
0.882081
8
0.249573
0.261736
0.249573
0.261736
null
0.27841
0.317046
-7.798
0.190445
0.226053
null
0.061218
0.417216
0.888175
0.00051
0.0018
0.238357
0.121
0.062729
0.858
null
COL11A1
G1423E
Benign
0
0
1
1
0
1
4.135
-5.89
-7.02
0.957
0.9696
0.9924
0.993301
0.846547
0.991
0.968
0.966254
0.98199
0.153173
0.892334
0.776293
0.580776
0.596468
0.999682
0.936606
0.992296
0.99681
0.939855
1
0.693126
0.573888
0.659464
0.564101
3.977411
1.104199
1.016808
5.9
1
1
0.964
20.2552
911
0.9926
0.756769
83
0.887212
0.921198
0.887212
0.921198
null
0.7365
0.699835
-16.937
0.834899
0.97317
null
0.719722
0.907457
0.981377
0.000566
0.2913
0.575598
0.906
0.637143
0.917
null
COL11A1
Y499H
Benign
0.095
0.309
0.679
0.275
0.002002
0.90511
0.805
-2.29
-2.94
0.486
-0.2615
0.3956
0.342507
0.060193
0.328
0.453
0.664816
0.808686
0.637257
0.656808
0.637034
0.089476
-0.109251
0.909813
0.803645
0.994087
0.97824
0.598038
0.255519
0.706298
0.573888
0.709663
0.564101
3.294844
0.14398
0.257782
5.59
0.998
1
0.849
15.7579
830
0.3251
0.783608
16
0.158011
0.196917
0.158011
0.196917
null
0.1945
0.240495
-6.1
0.181191
null
null
0.034397
0.268425
0.353513
0.000357
0.0026
0.290766
0.127
0.146904
0.774
null
AMPD2
L797P
Pathogenic
0
0.001
1
0.996
0.000001
1
3.75
-2.26
-6.35
0.9615
0.868
0.8161
0.988176
0.505752
0.958
0.957
0.988548
0.998101
2.127734
0.876763
0.898219
0.421869
0.451074
0.984056
0.926607
0.99907
0.94897
0.980402
1
0.712529
0.67197
0.635938
0.691587
4.53262
0.875372
0.788297
4.9
1
1
0.995
14.3437
840
0.9993
0.772716
88
0.964636
0.951202
0.964636
0.951202
0.911
0.95886
0.628747
-16.937
null
0.797998
-15.488985
0.995144
0.764705
0.959229
0.000586
0.7115
null
0.994
0.717669
0.975
0.000004
SLC6A17
D59N
Benign
0.277
0.305
0
0.002
0.000004
0.999787
1.355
-0.78
-1.84
0.102
-0.9692
0.1057
0.00635
0.006693
0.138
0.248
0.582855
0.23691
0.540215
0.465733
0.024055
-0.345405
-0.529376
0.212055
0.835117
0.9981
0.95556
0.787694
0.999973
0.497415
0.59043
0.547309
0.542086
2.424378
-0.10467
0.112755
4.68
1
1
0.991
11.7149
435
0.0826
0.98486
9
0.169833
0.139002
0.169833
0.139002
0.342
0.06616
0.231985
-6.625
0.105749
0.117627
-5.254158
0.022313
0.180842
0.085124
0.000376
0.0079
0.059537
0.185
0.157742
0.443
0.000052
NOTCH2
L2210W
Benign
0.003
0.156
0.998
0.908
0.009455
0.994079
0.345
-1.77
-2.6
0.485
0.2555
0.5853
0.481793
0.119608
0.486
0.349
0.760729
0.327012
0.794088
0.707715
0.40222
0.113254
-0.075095
0.912346
0.868113
0.964349
0.93254
0.600206
1
0.706548
0.659912
0.724815
0.714379
3.563926
0.540424
0.519903
5.5
0.022
1
0.985
14.7917
832
0.1462
0.791025
26
0.141051
0.31838
0.141051
0.31838
0.835
0.0766
0.388244
-6.589
0.256315
0.170795
null
0.793554
0.742559
0.527381
0.00027
0.1111
0.07275
0.175
0.285454
0.31
null
NOTCH2
V1816A
Benign
1
1
0.002
0.001
0.004156
0.688983
-0.165
-1.46
1.33
0.475
-1.0873
0.0919
0.073241
0.019151
0.191
0.304
0.769746
0.211326
0.70478
0.610127
0.139158
-0.039052
-0.293872
0.375797
0.776522
0.585118
0.35419
0.1311
0.999603
0.706548
0.659912
0.724815
0.714379
1.580534
-0.644701
-0.430793
4.6
0
0.998
0.988
10.4241
823
0.0843
0.995118
16
0.040546
0.05592
0.040546
0.05592
0.416
0.07982
0.28466
-2.567
0.088817
0.080943
null
0.550278
0.265347
0.250423
0.000063
0.0004
0.021304
0.115
0.089853
0.103
null
NOTCH2
R1787W
Benign
0
0
1
0.999
0.002381
1
3.285
-2.13
-7.49
0.814
0.7464
0.8113
0.872045
0.048639
0.61
0.361
0.885651
0.506422
1.565383
0.821158
0.802849
0.431301
0.381757
0.999055
0.988601
0.999335
0.89632
0.754285
1
0.706548
0.659912
0.724815
0.714379
4.361194
0.830106
0.785145
5.82
1
1
0.95
19.0775
823
0.8862
0.757477
43
0.646459
0.632128
0.646459
0.632128
0.921
0.67998
0.585899
-14.156
0.239445
0.346067
null
0.98882
0.85236
0.852299
0.000419
0.2132
0.086643
0.461
0.607213
0.929
null
NOTCH2
S359F
Benign
0.032
0.001
0.015
0.01
0.002056
1
2.005
-2.63
-4.6
0.9
-0.0337
0.5244
0.795552
0.214468
0.513
0.592
0.874152
0.949995
1.605699
0.748815
0.860281
0.15286
-0.018203
0.985555
0.973153
0.998122
0.95765
0.871852
1
0.706298
0.670034
0.709663
0.714379
3.504933
0.175383
0.333518
4.81
1
1
0.994
13.561
861
0.6347
0.936137
35
0.313533
0.308131
0.313533
0.308131
0.783
0.77833
0.463376
-10.956
0.371724
null
null
0.401059
0.907993
0.777436
0.000531
0.0056
0.040036
0.314
0.537586
0.932
null
GJA8
G46A
Pathogenic
0.002
0
1
1
0
1
2.815
-5.4
-5.64
0.885
1.0937
0.9754
0.974603
0.836368
0.922
0.744
0.962254
0.954752
null
0.861549
0.941872
0.407664
0.347804
0.998271
0.856914
0.997761
0.97064
0.931429
1
0.497415
0.59043
0.573078
0.542086
4.026035
0.877854
0.823658
4.9
1
1
0.982
18.046
952
0.6746
0.881448
24
0.818219
0.804113
0.818219
0.804113
0.4
0.83761
0.465297
-12.066
0.563667
0.872833
-9.165173
0.993789
0.915678
0.945814
0.000473
0.9742
0.37457
0.98
0.299424
0.859
null
GJA8
V97G
Pathogenic
0.001
0.001
0.998
0.882
0.000079
1
1.62
-5.46
-5.12
0.558
1.0826
0.9375
0.901687
0.835661
0.847
0.552
0.896515
0.962112
null
0.437117
0.931478
0.38717
0.318367
0.993808
0.89491
0.996962
0.95973
0.850103
0.984751
0.497415
0.59043
0.573078
0.542086
3.728702
0.523223
0.512709
5.2
1
1
0.65
10.3116
952
0.5942
0.84359
35
0.731768
0.729854
0.731768
0.729854
0.294
0.75079
0.579157
-11.366
0.543703
0.559333
-10.704228
0.988474
0.870755
0.720197
0.000476
0.0308
0.818823
0.906
0.307074
0.983
null
SF3B4
A252V
Benign
0.278
0.347
0.015
0.002
0.000311
0.999627
1.175
1.82
0.03
0.567
-1.0957
0.0245
0.225863
0.007159
0.13
0.313
0.367259
0.078922
0.567158
0.739033
0.018364
-0.089154
-0.36584
0.912874
0.858914
0.99157
0.99512
0.853378
1
0.722319
0.672317
0.702456
0.735409
2.671126
0.009711
0.170494
4.85
1
1
0.999
15.0468
207
0.1207
0.923589
20
0.146423
0.123561
0.146423
0.123561
0.496
0.05899
0.308398
-4.085
0.159451
null
-4.589904
0.004755
0.315103
0.140728
0.000532
0.0111
0.092694
0.085
0.463101
0.408
null
ADAR
R1175G
Benign
0.045
0.2
0.997
0.994
0.899008
0.639925
0.825
-3.25
-1.09
0.335
0.0496
0.6867
0.25418
0.191779
0.376
0.439
0.826837
0.253766
1.773526
0.42371
0.463364
0.115477
-0.071902
0.532686
0.782222
0.998058
0.40388
0.197039
0.999999
0.722319
0.698795
0.724815
0.735409
3.513475
-0.095015
-0.048679
4.76
0.05
1
1
11.5686
489
0.1902
0.929214
19
0.132984
0.168654
0.132984
0.168654
null
0.13668
0.353761
-5.484
null
0.147135
null
0.835931
0.745386
0.50447
0.0002
0.0147
0.185053
0.164
0.2433
0.178
null
ADAR
D973N
Benign
0.01
0.011
1
1
0
1
2.34
-3.21
-1.61
0.725
0.8682
0.8707
0.672687
0.425394
0.623
0.446
0.922252
0.693525
1.944671
0.80561
0.646314
0.09573
-0.100267
0.988782
0.968403
0.99934
0.97468
0.894493
1
0.706548
0.697927
0.697927
0.714379
4.223076
0.824142
0.812109
5.58
1
1
0.99
19.5563
496
0.9288
0.960425
19
0.426072
0.408038
0.426072
0.408038
null
0.71046
0.466383
-10.125
null
0.643358
null
0.876969
0.951983
0.94526
0.000567
0.893
0.136704
0.833
0.558685
0.892
null
ADAR
G751E
Benign
0.002
0.003
1
0.999667
0
1
3.995
-1.71
-6.31
0.737
0.7798
0.7873
0.929695
0.439478
0.889
0.776
0.920515
0.931328
2.286265
0.797197
0.895798
0.42856
0.37782
0.998804
0.930057
0.997833
0.99004
0.883225
1
0.706548
0.697927
0.724815
0.714379
4.175183
0.909095
0.820326
5.07
1
1
0.963
18.6376
506
0.9986
0.810088
54
0.839064
0.840238
0.839064
0.840238
null
0.88525
0.837957
-15.183
null
0.645611
null
0.999423
0.925879
0.929454
0.00058
0.4613
0.685649
0.922
0.840587
0.812
null
ADAR
R633H
Benign
0.098
0.127
0.999667
0.976667
0.000091
0.76573
1.505
-1.09
-0.78
0.316
-0.4943
0.3055
0.363526
0.061901
0.339
0.541
0.769931
0.190848
0.946936
0.362346
0.39237
0.025754
-0.185296
0.704287
0.939856
0.999455
0.68034
0.129604
0.963412
0.719381
0.702456
0.723133
0.714379
3.455582
0.480411
0.493718
4.3
0.983
1
0.969
3.518
509
0.1104
0.868879
36
0.054421
0.03537
0.054421
0.03537
null
0.57721
0.287472
-4.945
null
0.145744
null
0.996901
0.142064
0.238554
0.000295
0.089
0.157095
0.098
0.347603
0.292
0.000008
ADAR
Y177H
Benign
0
0
1
0.999333
0.025818
0.999998
2.94
-0.22
-2.17
0.782
0.0174
0.4472
0.879377
0.2549
0.538
0.681
0.765561
0.620921
1.015198
0.562709
0.538813
0.210515
0.064614
0.995671
0.872513
0.998502
0.9857
0.889316
1
0.722319
0.698795
0.702456
0.714379
4.150546
0.723269
0.631599
4.52
1
1
0.991
13.9522
513
0.5223
0.941308
88
0.95708
0.910542
0.95708
0.910542
null
0.73702
0.342557
-8.901
null
null
null
0.999905
0.524092
0.450241
0.000565
0.1803
0.257013
0.377
0.663898
0.945
null
LMNA
R89C
Pathogenic
0
0
1
0.995
0.000016
1
4.415
-3.14
-7.28
0.9692
1.0666
0.9187
0.980322
0.736412
0.907
0.834
0.975563
0.99495
2.424568
0.843541
0.989295
0.505923
0.488947
0.999814
0.999706
0.999297
0.94824
0.942512
1
0.733237
0.52208
0.600757
0.56214
4.626337
0.891765
0.773059
4.77
1
1
0.998
15.3387
423
0.9958
0.791488
96
0.895071
0.831663
0.89507
0.831663
0.987
0.69949
0.688449
-12.915
0.581887
0.975853
-11.557468
0.999967
0.973659
0.978609
0.000584
0.9957
0.954854
0.992
0.784174
0.888
null
LMNA
R349Q
Pathogenic
0.0494
0.1244
0.83
0.659
0.003124
0.999999
2.885
-2.79
-3.37
0.8414
0.7117
0.7859
0.92935
0.506528
0.752
0.77
0.911645
0.954215
2.179942
0.762213
0.943881
0.265593
0.14373
0.967393
0.973403
0.999486
0.98088
0.969824
1
0.706548
0.702456
0.724815
0.711
3.98137
0.704034
0.702447
4.83
1
1
0.955
12.55
460
0.4287
0.993597
47
0.424948
0.350212
0.424948
0.350212
0.967
0.17523
0.486514
-9.765
0.455626
0.235373
-10.849989
0.999914
0.865234
0.957177
0.000553
0.4858
0.941959
0.884
0.467027
0.942
0.000004
TBX19
E188K
Pathogenic
0.001
0.003
0.97
0.717
0
1
3.115
-2.49
-3.85
0.829
0.8919
0.819
0.946112
0.111105
0.927
0.847
0.963983
0.829254
0.729176
0.863245
0.92766
0.351173
0.349525
0.993295
0.972903
0.999181
0.98553
0.892598
1
0.638212
0.670034
0.602189
0.421255
4.460984
0.823977
0.783112
5.02
1
1
0.998
17.9571
889
0.6108
0.779523
49
0.863156
0.812913
0.863156
0.812913
0.68
0.34249
0.621641
-10.503
0.602094
null
-11.73301
0.995981
0.771442
0.981753
0.00055
0.2044
0.852938
0.841
0.462055
0.94
0.000004
SLC19A2
L422P
Pathogenic
0
0.001
1
0.999
0.000001
1
3.73
-2.83
-6.78
0.99
0.9764
0.8704
0.960408
0.486048
0.911
0.84
0.949499
0.954786
0.911102
0.868021
0.890696
0.502611
0.48419
0.999337
0.907309
0.999241
0.99011
0.965054
1
0.706298
0.708844
0.709663
0.613276
4.282609
0.956022
0.888767
5.42
1
1
0.997
15.7558
697
0.9827
0.82132
79
0.966773
0.962232
0.966773
0.962232
0.794
0.99014
0.696823
-14.88
0.773236
0.95556
-12.746007
0.898559
0.945545
0.922207
0.000584
0.2265
0.926241
0.913
0.224593
0.951
null
SLC19A2
T405R
Pathogenic
0
0.006
1
1
0
1
3.57
-2.78
-5.99
0.973
0.9565
0.8877
0.947838
0.316217
0.927
0.829
0.966908
0.962023
0.757744
0.760594
0.900112
0.372258
0.478474
0.994173
0.942406
0.994977
0.9958
0.902137
1
0.706298
0.708844
0.709663
0.613276
4.036102
1.031951
0.976233
5.71
1
1
0.995
19.8579
693
0.9791
0.775813
70
0.950234
0.919745
0.950234
0.919745
0.656
0.98939
0.606651
-14.889
0.824116
0.949926
-16.866784
0.85582
0.788764
1
0.000581
0.192
0.46956
0.78
0.178981
0.931
0.000004
LHX4
D39N
Benign
0.001
0.003
1
0.998
0
1
3.085
-2.32
-4.51
0.849
0.7495
0.7892
0.952977
0.238102
0.745
0.835
0.914668
0.586846
0.927186
0.806917
0.855688
0.080905
-0.121562
0.994252
0.965203
0.957196
0.99172
0.934147
1
0.554377
0.547309
0.602189
0.542086
4.289424
0.887953
0.847072
5.01
1
1
0.999
17.1084
724
0.984
0.753082
31
0.750079
0.6996
0.750079
0.6996
0.972
0.64412
0.418216
-12.043
0.670094
0.759985
-11.84018
0.934293
0.931568
0.947411
0.000556
0.0458
0.405282
0.78
0.515968
0.953
null
ASPM
G1645V
Benign
0.033
0.022
1
0.997
0.249417
0.999896
3.68
0.88
-4.37
0.454
-0.3852
0.3104
0.642953
0.035328
0.345
0.77
0.490701
0.040648
null
0.343951
0.335059
-0.020276
-0.266901
0.94873
0.854315
0.995681
0.93923
0.1949
0.005671
0.706548
0.653731
0.724815
0.714379
2.76784
0.440847
0.289011
1.96
0.014
0.939
0.998
11.0616
176
0.3136
0.886648
66
0.261639
0.326519
0.261639
0.326519
0.39
0.82999
0.539658
-9.481
0.35686
0.554678
null
0.00685
0.172883
0.091249
0.000276
0.0151
null
0.269
0.184003
0.795
null
CENPF
Q2549K
Benign
0.172
0.045
null
null
0.079233
1
null
3.98
-1.59
0.372
-1.0165
0.0136
0.063963
0.008758
0.032
null
0.204665
0.07476
0.120783
0.296249
null
-0.51607
-0.622698
0.038345
0.710429
0.942022
0.70095
0.115947
0.829913
0.706548
0.724815
0.724815
0.714379
1.637083
-0.252159
-0.268475
2.03
0.852
1
0.59
10.841
902
0.0805
null
20
0.057576
0.083184
0.057576
0.083184
null
0.09135
0.256518
-3.179
0.121106
null
null
0.001855
0.065566
0.04596
0.000159
0.0001
null
0.043
0.041328
0.139
0.000291
RAB3GAP2
R426H
Pathogenic
0
0.004
1
1
0
1
3.015
-1.49
-4.51
0.964
0.3233
0.6431
0.935483
0.185187
0.797
null
0.923096
0.851934
0.697569
0.590183
0.584302
0.306151
0.388526
0.891274
0.982402
0.999321
0.99168
0.841846
1
0.732398
0.724815
0.709663
0.727631
3.846528
0.678352
0.642
5.69
1
1
0.512
19.7949
440
0.9747
0.776255
53
0.62968
0.605423
0.62968
0.605423
0.43
0.82086
0.578924
-11.268
0.306061
0.921282
null
0.322425
0.749273
0.94263
0.000581
0.0969
0.070301
0.805
0.465595
0.865
0.00004
RAB3GAP2
A240P
Pathogenic
0
0
1
0.992
0
1
1.98
1.23
-3.59
0.837
-0.6101
0.3266
0.772575
0.045146
0.426
null
0.422873
0.717006
0.712085
0.64396
0.310855
0.125708
0.124323
0.886937
0.910609
0.997564
0.98713
0.913022
1
0.732398
0.743671
0.743671
0.714379
3.979299
0.457928
0.548422
5.53
1
1
0.948
19.8304
447
0.9812
0.856094
15
0.941522
0.926087
0.941522
0.926087
0.465
0.68051
0.324532
-14.842
0.503049
0.893319
null
0.189284
0.360614
0.139275
0.000556
0.4778
0.165247
0.86
0.369828
0.863
0.000016
PXDN
N964K
Benign
0.357
0.709
0.155
0.171
0.000511
0.000726
1.19
-0.72
-2.36
0.721
-0.837
0.1919
0.733505
0.061941
0.105
0.374
0.395894
0.546048
0.894401
0.777881
0.030651
-0.079413
-0.351848
0.675535
0.915808
0.970181
0.88929
0.523448
0.998177
0.706548
0.573888
0.724815
0.714379
2.006617
-0.682152
-0.57006
-0.314
0.934
0
0.944
10.616
804
0.3494
0.90803
8
0.058798
0.078535
0.058798
0.078535
0.726
0.26405
0.240233
-9.015
0.201536
0.34413
null
0.001395
0.362052
0.202686
0.000415
0.0015
0.024212
0.106
0.278022
0.08
null
SOX11
H109Y
Pathogenic
0
0
0.996
0.997
0.000001
1
1.675
-2.65
-5.97
0.871
0.7966
0.8135
0.905082
0.633039
0.826
0.63
0.960144
0.996418
2.451855
0.949502
0.83732
0.291033
0.180272
0.99687
0.988601
0.996505
0.73174
0.72014
1
0.59774
0.563428
0.52208
0.63947
3.922173
0.536979
0.431225
2.82
1
1
0.996
14.0543
985
0.9995
0.856592
90
0.974569
0.96212
0.974569
0.96212
0.836
0.95386
0.692652
-13.62
0.684259
0.974779
-14.980247
0.962828
0.964525
0.950169
0.000573
0.835
0.996865
0.893
0.843082
0.858
null
MATN3
A7V
Benign
0.012
0.4385
0.002
0
0.691625
1
0.55
-1.01
-0.195
0.0475
-0.9105
0.2243
0.083256
0.052078
0.153
0.125
0.602507
0.371166
0.183075
0.80025
0.034004
-0.108131
-0.393099
0.087273
0.547445
0.993627
0.01409
0.031789
0.999999
0.652421
0.596491
0.64067
0.604282
1.245711
-1.101612
-1.157641
0.999
0
0
0.261
3.9765
915
0.192
1.01854
19
0.03083
0.043822
0.03083
0.043822
0.024
0.02453
0.333334
-5.684
0.106157
null
-5.691209
0.911611
0.074411
0.147657
0.000136
0.0004
0.048639
0.025
0.013069
0.402
null
DNMT3A
G298R
Pathogenic
0
0.001
1
1
0
1
3.195
-0.74
-6.39
0.99
0.4444
0.6411
0.974812
0.229399
0.887
0.89
0.885072
0.990691
2.26551
0.921696
0.888306
0.404172
0.342788
0.998245
0.990301
0.999337
0.98867
0.915141
1
0.706548
0.724815
0.702456
0.714379
3.985674
0.8802
0.814821
4.97
1
1
1
16.948
535
0.9998
0.752854
89
0.991863
0.973498
0.991863
0.973498
0.954
0.95282
0.713012
-11.117
0.686848
0.642874
-11.911752
0.814383
0.826594
0.903413
0.000578
0.1154
0.997181
0.999
0.416725
0.987
null
OTOF
G524R
Benign
0.001
0.002
1
0.999
0.000001
1
2.75
-1.4
-7.39
0.8675
0.5791
0.713
0.867665
0.178635
0.771
0.368
0.935273
0.837846
0.71979
0.892986
0.616528
0.240482
0.401146
0.96677
0.981335
0.999322
0.97678
0.926289
1
0.403107
0.547309
0.578056
0.613276
4.174445
0.842506
0.78066
5.13
1
1
0.975
18.1792
427
0.8894
0.808044
17
0.806829
0.900836
0.806829
0.900836
0.937
0.9836
0.467959
-10.096
0.393852
0.628474
null
0.918351
0.531723
0.757993
0.000548
0.6684
0.1545
0.991
0.220726
0.929
0.00012
SOS1
T828A
Benign
0.017
0.007
0.228
0.239
0.000007
1
1.075
1.58
-3.54
0.761667
-1.0083
0.1017
0.746142
0.021463
0.426
0.743
0.819183
0.726957
1.421378
0.871117
0.499085
0.147236
-0.026283
0.973434
0.984598
0.994157
0.98795
0.848654
1
0.732398
0.708844
0.65145
0.727631
3.255563
0.261215
0.387442
5.61
1
1
0.981
15.8443
473
0.9058
0.845504
65
0.713888
0.66254
0.713888
0.662539
0.632
0.8486
0.488682
-9.814
null
0.812322
null
0.996842
0.673895
0.624487
0.000578
0.0584
0.705908
0.598
0.700759
0.879
null
SOS1
I733M
Pathogenic
0.033
0.033667
0.995
0.999
0
0.999999
2.15
1.51
-2.196667
0.711
-0.8887
0.1602
0.774455
0.034315
0.403
0.494
0.670115
0.749157
1.547654
0.742711
0.519731
0.111993
-0.076906
0.906932
0.971203
0.996878
0.94217
0.411766
0.877298
0.732398
0.743671
0.65145
0.727631
3.142202
0.351268
0.318318
4.07
1
1
0.997
9.019
470
0.6955
0.844984
30
0.747045
0.40728
0.747045
0.40728
0.737
0.38118
0.439421
-10.652
null
0.701403
null
0.98801
0.280154
0.659704
0.000548
0.163
0.571028
0.898
0.49212
0.144
null
SOS1
G386C
Benign
0.050333
0.029
0.974
0.904
0
0.997905
0.69
-0.04
-0.62
0.371667
-0.8345
0.1706
0.293143
0.030769
0.249
0.57
0.44906
0.415502
1.260615
0.707334
0.29228
0.000399
-0.237203
0.85114
0.963454
0.991054
0.93874
0.773121
0.996639
0.643511
0.633656
0.658983
0.631631
3.605126
0.315108
0.385264
3.85
1
1
0.998
4.2628
464
0.1413
0.875245
22
0.566674
0.16241
0.566674
0.16241
0.805
0.23046
0.396822
-8.514
null
0.106389
null
0.982111
0.215351
0.11982
0.000511
0.1482
0.56445
0.416
0.469528
0.82
null
SIX3
W253R
Pathogenic
0
0.001
1
1
0.000002
1
4.955
-6.63
-13.58
0.969
0.9612
0.9929
0.987446
0.764999
0.94
0.878
0.997394
0.996754
2.861817
0.947694
0.97927
0.570468
0.581662
0.999945
0.968103
0.992961
0.95736
0.887695
1
0.59774
0.563428
0.666236
0.63947
4.590724
0.72259
0.534136
3.58
1
1
0.999
11.9816
749
1
0.759519
99
0.96799
0.957854
0.96799
0.957854
0.878
0.99302
0.876306
-10.989
0.868982
0.960634
-14.267139
0.999845
0.989756
0.86953
0.000586
0.9664
0.956773
0.875
0.944709
0.965
null
ST3GAL5
G235R
Pathogenic
null
null
1
1
0
1
3.875
null
null
null
0.9342
0.858
0.990871
0.394666
null
0.96
null
0.972919
null
0.809206
0.751581
0.458744
0.421177
0.999725
0.974603
0.999402
0.98568
0.896408
1
0.615465
0.633656
0.658983
0.553451
4.835291
0.987567
0.919196
5.65
1
1
0.997
18.7095
307
0.9811
0.767701
35
0.972658
0.941084
0.972658
0.941084
0.951
0.87245
0.829895
-10.255
0.75728
0.982657
-11.628602
0.518436
0.93297
0.958647
0.000583
0.6813
0.984604
0.966
0.695127
0.944
null
EIF2AK3
E994Q
Pathogenic
0
0
1
0.999
0
1
2.365
0.06
-2.99
0.893
0.2386
0.5665
0.978469
0.094466
0.631
0.95
0.92827
0.920494
1.101355
0.690952
0.494432
0.347319
0.261123
0.992864
0.9951
0.998194
0.99601
0.88501
1
0.706548
0.702456
0.724815
0.714379
3.97763
1.016581
0.970899
6.04
1
1
0.998
20.5948
833
0.9461
0.672361
93
0.76318
0.710234
0.76318
0.710234
0.88
0.73647
0.758875
-9.022
0.593151
null
null
0.996794
0.639103
0.921848
0.00058
0.5216
0.975966
0.848
0.692921
0.942
null
EIF2AK3
E488K
Pathogenic
0.05
0.649
0.501
0.118
0.000285
0.991666
0.55
-0.6
-1.1
0.525
-0.4699
0.331
0.287835
0.022235
0.19
0.361
0.886977
0.832394
0.396604
0.65078
0.210758
0.041052
-0.178808
0.492786
0.957904
0.998677
0.97749
0.574901
0.9996
0.706548
0.724815
0.608884
0.635551
2.623079
0.284489
0.409705
5.73
1
1
0.96
19.9133
848
0.1199
0.898285
24
0.105558
0.104688
0.105558
0.104688
0.675
0.34207
0.256736
-4.289
0.124417
null
null
0.930519
0.599863
0.84382
0.000569
0.2264
0.619631
0.942
0.671699
0.918
null
PAX8
I378V
Benign
1
1
0.699
0.768
0.000003
0.999972
-0.205
1.74
0.34
0.241
-1.1028
0.0734
0.141775
0.053126
0.145
0.192
0.25283
0.32136
0.233742
0.779377
0.176902
-0.163349
-0.472416
0.945823
0.889511
0.981077
0.81178
0.387761
1
0.706298
0.709663
0.602189
0.586402
2.436842
0.206717
0.284387
5.3
1
1
1
13.4837
612
0.1662
1.01115
15
0.064097
0.080944
0.064097
0.080944
0.452
0.01037
0.196467
-4.86
0.083924
0.11753
-3.570166
0.027388
0.027024
0.496845
0.000443
0.014
0.038088
0.098
0.023918
0.444
null
PAX8
D200G
Benign
0.0462
0.1246
0.7288
0.5264
0.00008
1
1.75
-4.384
-3.05
0.2684
0.545
0.9384
0.406685
0.346751
0.536
0.159
0.825072
0.670017
0.238913
0.648126
0.702002
0.226809
0.088018
0.979714
0.928032
0.997938
0.87461
0.784684
1
0.580535
0.550933
0.576033
0.631631
4.561714
0.298636
0.365875
4.92
1
1
0.996
12.8273
623
0.2824
0.892448
18
0.352864
0.35015
0.352864
0.35015
0.94
0.09346
0.312903
-4.455
0.15346
null
-6.945353
0.594697
0.446405
0.513708
0.000447
0.0555
0.366081
0.225
0.100041
0.534
null
PAX8
R133Q
Pathogenic
0.003
0.0116
0.9994
0.9702
0
1
3.845
-6.32
-3.588
0.9786
1.0081
0.9895
0.991027
0.971655
0.937
0.915
0.998012
0.932861
2.027743
0.784457
0.951724
0.586604
0.60484
0.9972
0.965853
0.999455
0.94574
0.865315
1
0.421363
0.550933
0.547309
0.714379
4.310106
0.6578
0.564061
4.43
1
1
0.998
11.7547
627
0.9989
0.776056
40
0.857904
0.771799
0.854885
0.782872
0.787
0.89665
0.662818
-15.351
0.767477
0.669324
-14.478821
0.927449
0.988633
0.991284
0.000583
0.0591
0.919176
0.55
0.382779
0.818
null
GLI2
R131H
Benign
0.001
0.002
1
0.991
0
0.999999
2.465
0.79
-4.34
0.606
-0.3711
0.3256
0.635137
0.041196
0.372
null
0.758012
0.613228
1.061872
0.472011
0.848465
-0.231677
-0.2385
0.923239
0.968603
0.999567
0.98955
0.950887
1
0.695654
0.59043
0.723109
0.542086
4.472082
0.85739
0.828164
5.08
1
1
0.984
18.6568
693
0.1642
0.939159
47
0.567297
0.427731
0.567297
0.427731
0.717
0.29301
0.449741
-3.476
0.211175
null
null
0.99707
0.372969
0.586083
0.000575
0.0213
0.0744
0.804
0.379072
0.052
0.000247
GLI2
C510Y
Pathogenic
0
0
1
0.999
0
1
3.49
-2.04
-10.85
0.903
0.8628
0.8111
0.992089
0.584038
0.91
0.942
0.961569
0.991972
1.416842
0.882112
0.95813
0.476331
0.44644
0.999847
0.944006
0.997716
0.98373
0.958473
1
0.718356
0.610034
0.570548
0.542086
4.290566
0.926317
0.834373
4.39
1
1
0.991
17.4864
697
0.9996
0.694223
98
0.955783
0.904557
0.955783
0.904557
0.92
0.95529
0.865508
-12.781
0.832972
null
null
0.997128
0.438558
0.870692
0.000586
0.3876
0.026448
0.633
0.602208
0.847
null
GLI2
P840T
Benign
0.402
0.033
0.799
0.343
0.000188
0.69453
1.935
-2.55
-2.05
0.105
0.51
0.7016
0.511215
0.888989
0.301
0.138
0.737527
0.377669
1.133748
0.796137
0.442786
0.313871
0.213078
0.976535
0.879912
0.993702
0.99219
0.732609
1
0.695654
0.59043
0.723109
0.613276
2.20186
0.406149
0.436122
4.58
1
1
0.823
17.587
697
0.1099
0.969412
25
0.193309
0.123949
0.193309
0.123949
0.485
0.04592
0.58448
-2.212
0.146911
null
null
0.996317
0.620413
0.3461
0.000561
0
0.006512
0.249
0.112302
0.743
null
LCT
Q423R
Benign
0.129
0.737
0.003
0.006
0.518656
1
-0.235
1.45
-0.25
0.098
-1.0197
0.0341
0.056878
0.00268
0.029
null
0.173772
0.466119
0.670773
0.313088
0.191564
-0.355002
-0.747712
0.057278
0.455954
0.330824
0.46273
0.207193
0.994455
0.497415
0.547309
0.547309
0.542086
0.621536
-1.17897
-1.146325
-2.49
0.009
0
0.012
2.7281
240
0.0698
1.01925
27
0.03704
0.037519
0.03704
0.037519
0.023
0.05911
0.242271
-3.472
0.084224
null
null
0.027674
0.202617
0.01567
0.000033
0.0004
0.011758
0.04
0.01754
0.038
null
LCT
Q423K
Benign
0.237
1
0.005
0.02
0.518656
1
-0.43
1.51
-0.25
0.305
-1.0512
0.0412
0.084427
0.00421
0.082
null
0.25004
0.540356
0.798411
0.316151
0.193213
-0.300971
-0.670101
0.053687
0.539146
0.444599
0.44023
0.180432
0.995045
0.497415
0.547309
0.547309
0.542086
0.631226
-0.890345
-0.798024
2.64
0.026
0
0.013
10.5132
240
0.0698
1.01479
21
0.058853
0.050291
0.058853
0.050291
0.048
0.08349
0.242271
-3.632
0.126603
null
null
0.036398
0.360897
0.086891
0.000106
0.0004
0.012008
0.081
0.0841
0.029
null
ZEB2
S1071L
Pathogenic
0
0
0.997
0.968
0
1
1.04
2.39
-5.15
0.706667
-0.9845
0.1319
0.597917
0.047543
0.441
0.259
0.497462
0.90064
1.458125
0.892085
0.670423
0.083883
-0.117285
0.98569
0.90426
0.999127
0.98623
0.947514
1
0.562547
0.588015
0.503968
0.635551
4.746252
0.905212
0.895099
5.51
1
1
0.999
19.7945
838
0.9894
0.782896
25
0.859511
0.848789
0.859511
0.848789
0.787
0.50174
0.726468
-15.526
0.734661
0.920648
null
0.988036
0.24146
0.527614
0.000568
0.7186
0.1369
0.998
0.736886
0.963
null
ZEB2
S1067L
Pathogenic
0
0
0.997
0.968
0
1
1.04
3.02
-5.11
0.748333
-1.1521
0.0795
0.590705
0.061568
0.462
0.221
0.444421
0.845754
1.764298
0.924552
0.667843
0.099843
-0.094359
0.972653
0.918408
0.999151
0.98623
0.948963
1
0.706548
0.588015
0.503968
0.714379
4.750234
0.905212
0.895099
5.51
1
1
0.999
19.7945
838
0.9973
0.816336
30
0.842279
0.813295
0.842279
0.813295
0.924
0.50263
0.765952
-16.255
0.680457
0.916126
null
0.98535
0.227335
0.597927
0.000568
0.4529
0.110167
0.985
0.725551
0.974
null
ZEB2
R1063P
Pathogenic
0
0.003
0.999
0.998
0
1
1.335
3.19
-5.81
0.871333
-1.1906
0.0706
0.717168
0.032648
0.52
0.314
0.592836
0.992512
3.043661
0.957104
0.707751
0.221809
0.080837
0.992153
0.90281
0.998241
0.98341
0.981683
1
0.706548
0.588015
0.503968
0.714379
4.523027
0.814311
0.812839
5.51
1
1
0.999
19.7945
844
0.9979
0.772123
50
0.961198
0.957303
0.961198
0.957303
0.841
0.76982
0.526953
-17.066
0.751581
0.833717
null
0.991593
0.499191
0.405869
0.00056
0.8235
0.216638
0.986
0.730933
0.974
null
ZEB2
R302Q
Benign
0
0
0.997
0.979
0
1
1.48
1.84
-3.77
0.905
-0.858
0.1661
0.887894
0.072862
0.588
0.775
0.473349
0.811483
1.881296
0.919885
0.601622
0.213003
0.068187
0.997114
0.924808
0.999531
0.98487
0.934938
1
0.706548
0.610034
0.547309
0.714379
4.340457
0.789267
0.776305
5.34
1
1
0.999
19.0474
814
0.9882
0.855027
56
0.804306
0.711711
0.804306
0.711711
0.862
0.64901
0.692065
-14.434
0.806148
0.924598
null
0.961104
0.798544
0.834632
0.000573
0.2247
0.66779
0.989
0.685584
0.929
null
IFIH1
C962R
Benign
0
0
1
1
0
1
3.33
-1.1
-7.69
0.861
0.5648
0.6852
0.859613
0.17225
0.879
0.636
0.908358
0.940117
0.242999
0.685923
0.394913
0.426287
0.374555
0.99909
0.532847
0.99752
0.99365
0.909135
1
0.706548
0.724815
0.653264
0.655142
4.200071
0.814234
0.74195
5.18
1
1
0.975
15.2013
403
0.9879
0.596873
85
0.98765
0.984131
0.98765
0.984131
0.9
0.97577
0.849734
-6.538
0.590099
0.713384
null
0.98966
0.707639
0.697923
0.000581
0.0255
0.835423
0.962
0.041185
0.918
null
IFIH1
A82T
Benign
0.003
0.0095
0.999333
0.944
0.000001
0.999429
2.91
3.02
-2.425
0.5185
-1.1584
0.0795
0.375887
0.012994
0.137
0.385
0.730847
0.762641
0.198844
0.500459
0.123811
-0.072605
-0.342068
0.985053
0.818252
0.999348
0.88166
0.3646
1
0.652421
0.52208
0.64067
0.604282
3.261267
0.623691
0.570959
5.43
0.995
1
0.504
19.5984
547
0.4533
0.848601
47
0.328648
0.389635
0.328648
0.389635
0.433
0.48882
0.521248
-8.084
0.425634
0.743096
null
0.015476
0.065582
0.217661
0.000402
0.107
0.37068
0.57
0.022921
0.397
null
SCN2A
I172S
Pathogenic
0
0.0002
0.9885
0.8995
0.000099
0.999997
3.82
-5.11
-5.135
0.8435
1.0865
0.9729
0.893407
0.580226
0.905
0.628
0.948046
0.991028
null
0.687397
0.962692
0.454115
0.414528
0.996556
0.956104
0.992076
0.97864
0.755755
0.999996
0.487112
0.573888
0.573888
0.564101
4.015963
0.816671
0.76396
5.57
1
1
1
16.0204
719
0.8112
0.817103
59
0.945397
0.885388
0.945397
0.885388
0.585
0.75145
0.522609
-13.786
0.695675
0.62969
null
0.992514
0.914618
0.883112
0.00057
0.7224
0.995944
0.756
0.792892
0.794
null
HOXD13
R307Q
Benign
0.036
0.053
0.978
0.88
0.000072
1
0.25
-3.79
-3.42
0.553
0.8562
0.8581
0.687932
0.145849
0.644
0.351
0.92945
0.571435
null
0.838695
0.917859
0.253245
0.125992
0.993287
0.980702
0.999551
0.96766
0.909017
1
0.59774
0.616487
0.596491
0.526665
4.456669
0.695145
0.720443
4.84
1
1
0.996
18.5076
753
0.8945
0.842705
56
0.564525
0.522408
0.564525
0.522408
0.629
0.64753
0.392224
-11.582
0.534458
0.54017
-9.860421
0.919653
0.721274
0.854779
0.000501
0.9096
0.467094
0.49
0.356785
0.898
null
COL3A1
G1095D
Pathogenic
0.001
0.001
1
1
0.000072
1
4.715
-5.77
-6.55
0.976
0.9562
0.9902
0.994969
0.976304
0.995
0.967
0.995954
0.999968
1.866798
0.893959
0.964331
0.567585
0.57752
0.999705
0.986301
0.998527
0.99423
0.981059
1
0.553676
0.573888
0.618467
0.567892
4.115649
1.125927
1.001491
5.22
1
1
0.648
18.782
839
0.9958
0.686276
94
0.969428
0.960186
0.96406
0.962362
0.783
0.96983
0.649896
-14.679
0.786699
0.704013
null
0.997053
0.972456
0.998837
0.000585
0.9844
0.992411
0.997
0.891773
0.977
null
COL3A1
P1270R
Benign
0.001
0.001
0.993
0.966
0.002841
0.999999
3.485
-0.97
-7.49
0.626
0.2806
0.6373
0.752868
0.102905
0.664
0.547
0.73183
0.610973
0.217422
0.620406
0.819481
0.176417
0.07928
0.989889
0.873413
0.997116
0.99043
0.984845
1
0.554377
0.573888
0.573888
0.567892
4.146594
0.889337
0.854109
5.6
1
1
0.993
19.6097
839
0.2954
0.762062
35
0.888276
0.845603
0.888276
0.845603
0.651
0.58211
0.61581
-5.87
0.465474
0.53922
null
0.990977
0.555312
0.653661
0.000566
0.0743
0.920516
0.765
0.626297
0.938
0.000016
SATB2
P603L
Pathogenic
0.697
0.163
0
0
0.024707
0.993041
0
0.98
-1.17
0.331
-1.0741
0.0536
0.137822
0.003873
0.043
0.309
0.543265
0.505162
1.068812
0.61145
0.196471
-0.143369
-0.443716
0.283052
0.875312
0.951073
0.90994
0.20432
0.996131
0.615465
0.573888
0.658983
0.620846
2.364152
-0.091668
0.130155
5.25
1
1
0.996
8.5222
827
0.0496
0.914445
20
0.057218
0.055456
0.057218
0.055456
0.36
0.04462
0.419297
-6.167
0.171059
0.096963
-5.28879
0.041067
0.219859
0.079696
0.000233
0
0.035719
0.051
0.374673
0.369
null
SATB2
Y556S
Pathogenic
0
0.006
1
1
0
1
1.935
0.27
-4.71
0.858667
-0.3046
0.3614
0.849677
0.121362
0.508
0.572
0.692881
0.977073
2.604855
0.837003
0.741513
0.239807
0.10669
0.998019
0.999074
0.993553
0.98771
0.922817
1
0.538911
0.563428
0.607057
0.567892
3.75537
0.737435
0.706229
5.35
1
1
0.883
15.79
837
0.9964
0.738972
65
0.834965
0.850925
0.834965
0.850925
0.778
0.97852
0.589673
-15.017
0.718139
0.660434
-13.449698
0.672123
0.680866
0.3107
0.00058
0.8393
0.983886
0.865
0.833417
0.984
null
SATB2
L394S
Pathogenic
0
0.001
0.999
0.992
0.000002
0.999992
3.03
-0.1
-2.32
0.95
0.0637
0.4725
0.948156
0.167066
0.735
0.865
0.919871
0.960904
2.576299
0.891346
0.469292
0.363812
0.284815
0.991695
0.999319
0.998412
0.98996
0.931873
1
0.553676
0.573888
0.618467
0.620846
4.250984
0.859745
0.79866
4.98
1
1
0.99
15.1355
840
0.9999
0.745957
90
0.567237
0.688553
0.567237
0.688553
0.867
0.9912
0.70552
-18.105
0.837406
0.67195
-17.442302
0.969982
0.941436
0.801756
0.000585
0.5032
0.974633
0.979
0.902073
0.803
null
SATB2
A386V
Pathogenic
0.002
0.01
0.998
0.988
0
1
1.29
0.81
-2.84
0.774333
-0.8061
0.2009
0.685793
0.015854
0.342
0.537
0.554032
0.851564
2.210301
0.905535
0.65831
0.200822
0.05069
0.974457
0.978202
0.999221
0.99737
0.923611
1
0.638212
0.573888
0.653264
0.620846
4.266318
0.714084
0.776326
5.72
1
1
0.997
19.8861
803
0.9966
0.862525
50
0.640632
0.557354
0.640632
0.557354
0.697
0.84833
0.532747
-11.524
0.623473
0.671688
-10.839871
0.958471
0.694851
0.572715
0.000583
0.2875
0.892717
0.964
0.83162
0.941
null
CRYGC
L133F
Benign
1
0.787
0.432
0.272
0.00044
0.789404
1.02
-1.24
0.52
0.289
-0.4331
0.3127
0.337645
0.019505
0.276
0.519
0.892505
0.57921
0.319145
0.455936
0.183071
-0.013828
-0.25764
0.781567
null
0.82144
0.72529
0.252924
0.017521
0.487112
0.573888
0.573078
0.564101
1.959021
0.099385
0.221816
5.13
1
1
0.977
9.9752
843
0.272
0.872183
32
0.074525
0.096192
0.074525
0.096192
0.121
0.31081
0.473593
-5.842
0.267156
0.079016
-5.268489
0.49281
0.210909
0.291742
0.000143
0.0039
0.53422
0.075
0.058692
0.307
null
CPS1
R1001H
Pathogenic
0
0.016
1
0.999
0
0.999999
3.04
-4.71
-4.66
0.769
1.0769
0.9735
0.871515
0.226982
0.824
0.564
0.983925
null
null
0.876313
0.796929
0.572888
0.585137
0.999613
0.978002
0.999453
0.99158
0.977434
1
0.693126
0.588015
0.659464
0.620846
4.328099
1.117686
1.064543
6.16
1
1
1
20.8598
396
0.5969
0.837575
48
0.83201
0.681724
0.83201
0.681724
null
0.27225
0.415083
-8.055
0.269586
0.377293
null
0.985726
0.919598
0.983297
0.000584
0.0077
0.735361
0.802
0.438379
0.93
null
FN1
H307Y
Benign
0.006727
0.054636
0.850625
0.490625
0.000001
1
1.39
1.685455
-1.489091
0.513455
-0.6546
0.257
0.549757
0.025141
0.151
0.366
0.784939
0.782862
0.697987
0.483702
0.429542
0.049237
-0.167051
0.738431
0.905582
0.998287
0.97603
0.86089
1
0.706548
0.588015
0.724815
0.7233
3.778997
0.432725
0.514928
5.83
1
1
0.976
20.1374
761
0.0911
0.957342
70
0.627722
0.598205
0.627722
0.598205
0.369
0.16627
0.220161
-6.275
0.118164
0.169007
null
0.00916
0.349917
0.210595
0.000567
0.0894
0.008952
0.193
0.221841
0.894
null
FN1
P157L
Benign
0.003
0.010636
0.9965
0.957875
0.000001
1
1.5
0.82
-3.857273
0.588364
-0.6764
0.2397
0.503999
0.063559
0.468
0.61
0.754959
0.811768
0.921467
0.834551
0.457021
0.245145
0.114357
0.990949
0.935534
0.998696
0.93556
0.917407
1
0.706298
0.588015
0.709663
0.657601
4.235351
0.697485
0.734834
5.78
1
1
0.982
20.3754
744
0.1165
0.887457
69
0.726005
0.603069
0.726005
0.603069
0.454
0.68478
0.494515
-11.637
0.139047
0.375676
null
0.036393
0.217101
0.537701
0.000582
0.0023
0.04365
0.352
0.349077
0.801
null
FN1
C87Y
Pathogenic
0.001091
0
0.98875
0.905875
0
1
2.165
-3.49
-5.46
0.869636
0.9706
0.9036
0.98166
0.374267
0.896
0.952
0.989887
0.958928
1.203638
0.844159
0.614075
0.50472
0.487219
0.99706
0.972151
0.996867
0.95754
0.981523
1
0.695654
0.588015
0.723109
0.56214
4.432976
0.832168
0.84204
5.91
1
1
0.981
20.2983
743
0.9993
0.802324
98
0.870083
0.916481
0.870082
0.916481
0.904
0.97946
0.834237
-11.087
0.605608
0.703358
null
0.084009
0.9201
0.924786
0.000584
0.0719
0.946767
0.956
0.594781
0.993
null
IHH
P300T
Benign
0.288
0.349
0.998
0.961
0
0.999936
1.97
-5.19
-4.43
0.634
1.1185
0.9592
0.776684
0.213887
0.828
0.537
0.988072
0.709629
0.710846
0.69805
0.958544
0.314363
0.213784
0.992939
0.918608
0.997454
0.98958
0.855968
0.999995
0.549168
0.610034
0.590023
0.542086
3.234346
0.641021
0.63043
5.16
1
1
0.999
18.2593
516
0.1203
0.979893
36
0.466243
0.584531
0.466243
0.584531
0.841
0.46936
0.292333
-11.137
0.337963
0.299884
-7.821559
0.830884
0.895449
0.8
0.000469
0.036
0.334725
0.342
0.296089
0.724
null
OBSL1
A693P
Pathogenic
0.002
0.00975
0.999
0.9965
null
0.999999
2.215
1.08
-3.89
0.76425
-0.8166
0.2082
0.811755
0.03085
0.242
0.612
0.426552
0.811014
0.765884
0.448074
0.161474
0.06546
0.053224
0.676424
0.884811
0.997605
0.93279
0.830748
1
0.722319
0.59043
0.698795
0.579976
3.160462
0.452461
0.409477
4.35
0.991
0.747
0.598
11.1871
115
0.6886
0.619348
12
0.773984
0.788722
0.773984
0.788722
0.412
0.32616
0.500658
-13.074
0.338944
null
null
0.022799
0.341535
0.082548
0.000326
0.159
0.337436
0.312
0.038492
0.186
0.000044
OBSL1
E454K
Benign
0.141
0.419
0.691
0.454
null
0.996015
0.145
-1.25
-0.903333
0.44075
-0.7781
0.3029
0.253785
0.056541
0.277
0.521
0.89839
0.597831
0.528087
0.424219
0.015908
-0.006904
-0.247693
0.458609
0.933007
0.98434
0.76702
0.355893
0.999997
0.722319
0.59043
0.698795
0.579976
3.154023
-0.380333
-0.325426
4.46
0.998
1
0.039
17.2927
115
0.1313
0.938133
6
0.218719
0.159416
0.218719
0.159416
0.146
0.14304
0.320087
-7.103
0.119943
null
null
0.016851
0.231847
0.140511
0.000187
0.0077
0.022426
0.085
0.010652
0.645
null
COL4A3
G58D
Benign
0
0
1
1
0.000011
0.999998
4.56
-5.77
-6.24
0.856
1.0259
0.9866
0.994044
0.804712
0.923
0.987
0.950392
0.981516
0.863726
0.716873
0.679653
0.296202
0.187697
0.998722
0.979902
0.998644
0.97561
0.576642
0.99841
0.638212
0.670034
0.602189
0.564101
3.531146
0.970956
0.882534
5.87
0.998
1
0.86
15.7708
927
0.8749
0.768564
89
0.980116
0.966569
0.980116
0.966569
0.5
0.99639
0.67448
-13.6
0.732571
0.939518
null
0.992385
0.88282
0.885238
0.000534
0.1012
0.919568
0.974
0.43758
0.833
null
COL4A3
G118R
Pathogenic
0
0.001
1
1
0.021847
0.912096
4.305
-5.77
-7.23
0.991
1.0512
0.9868
0.996229
0.861768
0.896
0.975
0.9512
0.937468
0.825335
0.695736
0.672278
0.541783
0.540458
0.996041
0.949505
0.998611
0.87787
0.529731
0.993345
0.638212
0.670034
0.618467
0.564101
3.508278
0.672824
0.473998
5.49
1
1
0.011
14.8805
947
0.6157
0.767361
86
0.869149
0.850107
0.893919
0.859143
0.874
0.96388
0.766198
-10.732
0.716157
0.970462
null
0.992911
0.938374
0.936897
0.000516
0.0016
0.970445
0.928
0.447799
0.479
null
COL6A3
V650I
Benign
0.358
0.211
0.184
0.048
0.000587
0.706061
0.61
-1.47
-0.4
0.32
-0.5345
0.2916
0.234339
0.045991
0.176
null
0.769297
0.304848
0.349067
0.428319
0.166342
-0.099542
-0.273105
0.165386
0.79532
0.984771
0.88222
0.350662
0.997474
0.553676
0.563428
0.618467
0.542086
2.013721
-0.106297
0.05022
4.65
1
1
0.873
14.6393
931
0.105
0.947812
16
0.136326
0.098141
0.136326
0.098141
0.25
0.07624
0.354416
-3.574
0.138486
null
null
0.008508
0.116467
0.700968
0.000323
0.0001
null
0.064
0.03496
0.189
0.000024
COL6A3
A383T
Benign
0.256
0.1925
0.425
0.233
0.265049
0.983247
2.025
-1.7
-0.465
0.3
-0.615
0.4122
0.250669
0.067167
0.285
null
0.763616
0.248707
0.558773
0.38046
0.108143
-0.043736
-0.236954
0.535954
0.820418
0.996668
0.87457
0.502614
0.999999
0.487112
0.563428
0.573888
0.530356
2.561954
0.12858
0.252849
5.17
0.999
1
0.999
6.7263
933
0.0913
0.932737
12
0.060402
0.056269
0.060402
0.056269
0.328
0.09806
0.244707
-4.196
0.213063
null
null
0.278118
0.209328
0.931333
0.000436
0.0044
null
0.054
0.160278
0.255
0.000012
TWIST2
Y143N
Benign
0.003
0.006
0.998
0.969
null
1
2.39
-4.46
-8.48
0.7965
1.0914
0.943
0.913413
0.817478
0.932
0.457
0.99534
0.959804
4.219752
0.903088
0.564976
0.477097
0.44754
0.996386
0.9954
0.990358
0.92385
0.908552
1
0.652421
0.627178
0.619478
0.71
4.690639
0.716391
0.649332
4.86
1
1
0.977
14.4811
929
0.9863
0.727329
48
0.734936
0.761111
0.734936
0.761111
0.843
0.85476
0.406064
-14.684
0.603676
null
-10.598021
0.999674
0.986979
0.895335
0.000559
0.5773
0.897422
0.757
0.739164
0.946
null
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