chrom
stringclasses 24
values | pos
int64 47.1k
248M
| id
stringlengths 1
7
| ref
stringclasses 4
values | alt
stringclasses 4
values | clin_sig
stringclasses 2
values | review_status
stringclasses 5
values | consequence
stringclasses 71
values | CADD
float64 -12.41
2.86
| phyloP
float64 -10
20
| phastCons
float64 -1
-0
| ESM-1b
float64 -25.89
12.8
⌀ |
|---|---|---|---|---|---|---|---|---|---|---|---|
1
| 930,165
|
1164676
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -4.225333
| -5.113
| -1
| -8.967
|
1
| 930,204
|
1170208
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -2.879554
| -3.43
| -1
| -5.529
|
1
| 930,285
|
1165489
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.091394
| -0.322
| -0.107
| -4.687
|
1
| 930,314
|
1170010
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -2.481464
| -3.747
| -0.081
| -4.295
|
1
| 935,779
|
1167937
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -1.831757
| -2.981
| -1
| -2.864
|
1
| 939,429
|
1167351
|
G
|
C
|
Benign
|
criteria_provided,_single_submitter
|
intron_variant,missense_variant
| -0.313022
| 0.492
| -0
| -1.728
|
1
| 942,451
|
1166513
|
T
|
C
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -1.997533
| -1.367
| -0.656
| 8.487
|
1
| 942,930
|
1169836
|
T
|
C
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.46896
| 0.204
| -0
| -1.218
|
1
| 942,945
|
1170437
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.523057
| 0.755
| -0
| -4.383
|
1
| 942,951
|
1170505
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.69239
| 0.13
| -0
| -4.413
|
1
| 944,001
|
1164573
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -1.909588
| -0.814
| -0.002
| -7.529
|
1
| 944,004
|
1164106
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.009384
| 0.304
| -0
| -4.172
|
1
| 944,029
|
1168053
|
C
|
G
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -2.31958
| -1.335
| -0.001
| -3.925
|
1
| 944,101
|
780745
|
G
|
C
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -2.087584
| -2.811
| -1
| -6.228
|
1
| 966,542
|
782833
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -2.509645
| -0.169
| -0.004
| -10.15
|
1
| 966,543
|
782834
|
C
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -3.16139
| 0.285
| -0
| -9.608
|
1
| 972,895
|
770481
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.504602
| -1.814
| -0.061
| -3.092
|
1
| 973,842
|
791106
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -1.832995
| -2.734
| -0.063
| -4.53
|
1
| 1,014,042
|
475283
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| 0.443816
| 0.676
| -0
| -5.595
|
1
| 1,014,228
|
402986
|
G
|
A
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| -0.027262
| 0.396
| -0
| -4.136
|
1
| 1,020,183
|
387476
|
G
|
C
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| -0.812271
| 1.405
| -0
| -3.27
|
1
| 1,022,313
|
243037
|
A
|
T
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -4.210583
| -5.733
| -1
| -3.284
|
1
| 1,041,583
|
128291
|
A
|
G
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| 1.129235
| 1.898
| -0
| -2.423
|
1
| 1,044,368
|
128294
|
A
|
T
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| -4.190468
| -5.452
| -1
| -6.692
|
1
| 1,045,751
|
263173
|
A
|
G
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| 0.143737
| 0.151
| -0
| -2.091
|
1
| 1,047,342
|
128299
|
A
|
G
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| -3.744859
| -2.004
| -1
| -7.347
|
1
| 1,048,126
|
128304
|
C
|
T
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| 0.616387
| 2.607
| -0
| -4.836
|
1
| 1,048,900
|
703974
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.043271
| -0.272
| -0.519
| -3.147
|
1
| 1,050,446
|
128312
|
G
|
A
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| -1.744586
| -0.812
| -0.947
| -6.132
|
1
| 1,050,449
|
1284257
|
G
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -3.882619
| -5.271
| -1
| -7.674
|
1
| 1,050,575
|
18241
|
G
|
C
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -4.095325
| -9.276
| -1
| -13.196
|
1
| 1,050,763
|
126555
|
G
|
T
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -3.767892
| -3.928
| -1
| -11.977
|
1
| 1,213,738
|
96692
|
G
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -1.622702
| 0.097
| -0
| -9.152
|
1
| 1,214,100
|
474794
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -1.398429
| 0.34
| -0
| -4.77
|
1
| 1,232,279
|
60484
|
A
|
G
|
Pathogenic
|
criteria_provided,_multiple_submitters,_no_conflicts
|
initiatior_codon_variant,missense_variant
| -2.298613
| -2.027
| -0.925
| null |
1
| 1,232,280
|
1452181
|
T
|
C
|
Pathogenic
|
criteria_provided,_single_submitter
|
initiatior_codon_variant,missense_variant
| -2.745302
| -1.175
| -0.99
| null |
1
| 1,232,294
|
60493
|
C
|
T
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -3.156854
| -2.011
| -0.011
| -6.582
|
1
| 1,232,387
|
800256
|
G
|
A
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| -0.606681
| 1.233
| -0
| -3.335
|
1
| 1,232,471
|
60488
|
A
|
G
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -2.945049
| -2.086
| -0.997
| -11.587
|
1
| 1,232,478
|
60489
|
C
|
T
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -3.931606
| -2.033
| -0.993
| -9.659
|
1
| 1,232,735
|
390636
|
C
|
A
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| -3.915694
| -2.68
| -1
| -11.996
|
1
| 1,232,744
|
60486
|
G
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -4.68026
| -7.4
| -1
| -10.741
|
1
| 1,232,754
|
869983
|
C
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -4.121125
| -4.766
| -1
| -15.88
|
1
| 1,232,800
|
281204
|
G
|
C
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| -0.830179
| -0.466
| -0.998
| -2.994
|
1
| 1,232,834
|
522415
|
T
|
C
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -4.516843
| -3.777
| -1
| -6.756
|
1
| 1,232,896
|
869985
|
C
|
G
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -3.667146
| 0.325
| -0.335
| -14.467
|
1
| 1,232,897
|
60495
|
G
|
C
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -4.542989
| -6.691
| -1
| -10.692
|
1
| 1,232,927
|
60496
|
G
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -4.493109
| -6.663
| -1
| -13.48
|
1
| 1,233,044
|
996067
|
C
|
T
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -4.400743
| -2.068
| -1
| -12.325
|
1
| 1,233,177
|
60487
|
G
|
C
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -4.25814
| -5.541
| -1
| -13.798
|
1
| 1,233,203
|
60491
|
T
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -3.938952
| -5.873
| -1
| -9.292
|
1
| 1,242,601
|
789547
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.625257
| 0.6
| -0
| -4.845
|
1
| 1,242,864
|
772646
|
G
|
C
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| 0.148836
| -0.36
| -0
| 0.345
|
1
| 1,332,630
|
775486
|
G
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -3.222589
| -1.914
| -0.937
| -5.17
|
1
| 1,334,108
|
1222088
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.004351
| -0.198
| -0
| -6.573
|
1
| 1,336,269
|
1600778
|
A
|
G
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.170895
| -0.321
| -0.459
| -2.601
|
1
| 1,336,404
|
1535754
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -1.085777
| -0.985
| -0.014
| -3.064
|
1
| 1,336,428
|
722475
|
C
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -3.522542
| -6.589
| -1
| -8.601
|
1
| 1,336,467
|
1166885
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -2.948811
| -1.555
| -0.882
| -7.468
|
1
| 1,340,312
|
1599156
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -3.946704
| -9.832
| -1
| -13.608
|
1
| 1,340,424
|
599454
|
G
|
C
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| -2.798378
| -2.056
| -0.454
| -5.409
|
1
| 1,341,749
|
1611353
|
G
|
C
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -1.244569
| -1.429
| -0.979
| -2.602
|
1
| 1,341,803
|
1169213
|
C
|
T
|
Benign
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
| -0.188021
| -0.139
| -0.014
| -4.991
|
1
| 1,437,393
|
781924
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant,synonymous_variant
| 0.482969
| 6.112
| -0
| -4.539
|
1
| 1,439,425
|
1229112
|
G
|
C
|
Benign
|
criteria_provided,_single_submitter
|
3_prime_UTR_variant,missense_variant
| 0.426661
| 2.109
| -0
| -2.55
|
1
| 1,454,394
|
1253304
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -2.71155
| -5.155
| -1
| -6.919
|
1
| 1,477,279
|
780746
|
G
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -3.226881
| -7.939
| -1
| -4.851
|
1
| 1,495,783
|
786444
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| 0.714693
| 0.107
| -0
| -4.288
|
1
| 1,495,785
|
767642
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.047896
| 0.81
| -0
| -3.32
|
1
| 1,512,287
|
1675332
|
A
|
G
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -1.664855
| -0.859
| -0.738
| -4.941
|
1
| 1,516,036
|
828051
|
T
|
G
|
Pathogenic
|
no_assertion_criteria_provided
|
5_prime_UTR_variant,missense_variant
| -3.368562
| -6.341
| -0.992
| -3.651
|
1
| 1,523,535
|
791764
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -1.60955
| -2.402
| -1
| -8.344
|
1
| 1,525,242
|
637018
|
T
|
G
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -3.512934
| -6.29
| -1
| -16.213
|
1
| 1,527,718
|
1685550
|
A
|
G
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -2.774607
| -5.907
| -1
| -9.9
|
1
| 1,527,777
|
791767
|
G
|
C
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -1.125781
| -3.741
| -0.628
| -10.657
|
1
| 1,535,370
|
161196
|
G
|
A
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -4.262362
| -1.591
| -0.966
| -5.859
|
1
| 1,535,427
|
1235425
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -0.095812
| -0.301
| -0.004
| -3.649
|
1
| 1,535,616
|
161194
|
G
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -4.118985
| -2.772
| -1
| -4.685
|
1
| 1,535,619
|
523023
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -3.489369
| -2.753
| -0.989
| -5.215
|
1
| 1,535,723
|
161195
|
G
|
A
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -3.741044
| -5.617
| -1
| -4.354
|
1
| 1,626,711
|
780208
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant,non-coding_transcript_variant
| -1.337381
| -1.936
| -0.862
| -10.223
|
1
| 1,757,140
|
791769
|
C
|
A
|
Benign
|
criteria_provided,_single_submitter
|
intron_variant,missense_variant
| -0.470473
| -0.634
| -0.001
| -4.774
|
1
| 1,759,182
|
716793
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
intron_variant,missense_variant
| -1.049697
| -0.053
| -0.002
| -3.677
|
1
| 1,759,828
|
716794
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
intron_variant,missense_variant
| 0.046505
| -0.008
| -0
| -4.718
|
1
| 1,789,242
|
995963
|
T
|
C
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -3.893146
| -7.889
| -1
| -15.005
|
1
| 1,790,444
|
1551623
|
A
|
G
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -2.533852
| -9.101
| -1
| -4.293
|
1
| 1,790,578
|
1610568
|
C
|
G
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -3.084199
| -1.134
| -1
| -6.134
|
1
| 1,793,270
|
1594453
|
C
|
T
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant
| -2.061848
| -3.345
| -0.996
| -4.001
|
1
| 1,804,496
|
521213
|
T
|
C
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -4.523403
| -7.839
| -1
| -15.496
|
1
| 1,804,497
|
812755
|
C
|
A
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -4.21045
| -7.729
| -1
| -15.91
|
1
| 1,804,502
|
1194565
|
C
|
A
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -3.918063
| -7.729
| -1
| -17.041
|
1
| 1,804,508
|
1315581
|
C
|
T
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -3.913554
| -7.729
| -1
| -16.842
|
1
| 1,804,562
|
995962
|
C
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
5_prime_UTR_variant,missense_variant
| -3.636235
| -7.729
| -1
| -16.534
|
1
| 1,804,575
|
633546
|
C
|
T
|
Pathogenic
|
criteria_provided,_multiple_submitters,_no_conflicts
|
5_prime_UTR_variant,missense_variant
| -3.542664
| -7.729
| -1
| -8.686
|
1
| 1,806,503
|
391609
|
A
|
C
|
Pathogenic
|
criteria_provided,_single_submitter
|
5_prime_UTR_variant,missense_variant
| -4.387314
| -9.083
| -1
| -15.412
|
1
| 1,806,503
|
224715
|
A
|
T
|
Pathogenic
|
criteria_provided,_multiple_submitters,_no_conflicts
|
5_prime_UTR_variant,missense_variant
| -4.256918
| -9.083
| -1
| -13.221
|
1
| 1,806,512
|
1315582
|
C
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
5_prime_UTR_variant,missense_variant
| -3.826645
| -7.706
| -1
| -21.37
|
1
| 1,806,513
|
1700090
|
C
|
A
|
Pathogenic
|
criteria_provided,_single_submitter
|
5_prime_UTR_variant,missense_variant
| -4.119774
| -7.706
| -1
| -12.053
|
1
| 1,806,514
|
1699320
|
A
|
T
|
Pathogenic
|
criteria_provided,_single_submitter
|
5_prime_UTR_variant,missense_variant
| -3.207073
| -2.553
| -1
| -12.567
|
1
| 1,806,515
|
224711
|
T
|
C
|
Pathogenic
|
criteria_provided,_multiple_submitters,_no_conflicts
|
5_prime_UTR_variant,missense_variant
| -4.491082
| -7.815
| -1
| -13.055
|
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