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chrom
large_stringlengths 1
2
| pos
int64 10.1k
249M
| ref
large_stringlengths 1
1
| alt
large_stringlengths 1
1
| label
bool 2
classes | consequence
large_stringlengths 6
26
| GPN-MSA
float32 -13.98
12.6
⌀ | CADD
float32 -21.01
18.7
| phyloP-100v
float64 -10
20
⌀ | phyloP-241m
float64 -9.28
20
⌀ | phastCons-100v
float64 -1
-0
⌀ | ESM-1b
float64 -25.92
12
⌀ | SpliceAI
float32 -1
-0
⌀ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
1
| 52,192
|
T
|
A
| true
|
upstream_gene
| -1.325684
| -0.360733
| 0.099
| -0.072
| -0.013
| null | null |
1
| 52,238
|
T
|
G
| false
|
upstream_gene
| 1.34375
| 0.04854
| 1.025
| -0.078
| -0
| null | null |
1
| 52,242
|
A
|
G
| true
|
upstream_gene
| -1.900879
| -0.285517
| 0.493
| -0.295
| -0
| null | null |
1
| 52,243
|
C
|
T
| true
|
upstream_gene
| 2.418457
| 0.014224
| -0.046
| -0.717
| -0
| null | null |
1
| 52,304
|
C
|
T
| true
|
upstream_gene
| -1.027344
| -0.298136
| 0.06
| -0.943
| -0
| null | null |
1
| 52,379
|
A
|
G
| true
|
upstream_gene
| -1.115234
| -0.504612
| -0.393
| 0.039
| -0
| null | null |
1
| 52,397
|
A
|
G
| true
|
upstream_gene
| -1.57959
| -0.52108
| 0.297
| 0.277
| -0
| null | null |
1
| 52,411
|
G
|
A
| true
|
upstream_gene
| -3.948242
| -0.76412
| -2.886
| -6.388
| -0.735
| null | null |
1
| 52,412
|
A
|
T
| true
|
upstream_gene
| -2.050903
| 0.221385
| 0.861
| -0.057
| -0.003
| null | null |
1
| 52,422
|
C
|
T
| true
|
upstream_gene
| -1.257324
| 0.286245
| 1.905
| -0.131
| -0
| null | null |
1
| 52,448
|
G
|
T
| true
|
upstream_gene
| -3.631958
| -0.264261
| 0.043
| -5.37
| -0
| null | null |
1
| 52,458
|
A
|
G
| true
|
upstream_gene
| 1.458984
| -0.044847
| 1.609
| -2.608
| -0
| null | null |
1
| 52,498
|
G
|
C
| true
|
non_coding_transcript_exon
| -6.443359
| -0.171931
| -2.069
| -1.994
| -0.71
| null | null |
1
| 52,597
|
T
|
C
| true
|
non_coding_transcript_exon
| -2.957031
| -0.788189
| -2.5
| -5.905
| -0.042
| null | null |
1
| 52,609
|
C
|
G
| true
|
non_coding_transcript_exon
| -1.334961
| -0.286032
| 2.038
| -2.669
| -0
| null | null |
1
| 52,767
|
G
|
T
| true
|
non_coding_transcript_exon
| -3.824463
| -0.055796
| -0.12
| -0.928
| -0.035
| null | null |
1
| 52,779
|
C
|
T
| true
|
non_coding_transcript_exon
| -2.085938
| -0.225094
| 1.615
| -0.255
| -0
| null | null |
1
| 53,212
|
G
|
A
| true
|
non_coding_transcript_exon
| -1.404785
| 0.081037
| 3.042
| -1.569
| -0
| null | null |
1
| 53,223
|
C
|
T
| true
|
non_coding_transcript_exon
| -1.738281
| -0.474518
| -0.462
| -6.675
| -0.006
| null | null |
1
| 53,279
|
T
|
A
| true
|
non_coding_transcript_exon
| -3.645508
| -0.853991
| 0.452
| -1.616
| -0
| null | null |
1
| 53,809
|
A
|
G
| true
|
downstream_gene
| -1.394531
| -0.415393
| -0.39
| -1.417
| -0
| null | null |
1
| 54,051
|
G
|
A
| true
|
downstream_gene
| -0.898438
| 0.172472
| 1.335
| -0.078
| -0
| null | null |
1
| 54,083
|
T
|
G
| true
|
downstream_gene
| -0.672852
| 0.345466
| 2.935
| 1.391
| -0
| null | null |
1
| 54,093
|
G
|
A
| true
|
downstream_gene
| -1.262695
| -0.005299
| 0.397
| 2.102
| -0
| null | null |
1
| 54,120
|
T
|
G
| true
|
downstream_gene
| -1.74707
| -0.52357
| -0.406
| -0.954
| -0.005
| null | null |
1
| 54,130
|
T
|
C
| true
|
downstream_gene
| -1.553711
| -0.523073
| -0.503
| -0.23
| -0.001
| null | null |
1
| 54,151
|
C
|
T
| true
|
downstream_gene
| -0.982422
| -0.044008
| 0.88
| 0.34
| -0
| null | null |
1
| 54,179
|
T
|
G
| true
|
downstream_gene
| -1.578125
| -0.781868
| -0.68
| -2.167
| -0.002
| null | null |
1
| 54,194
|
G
|
C
| true
|
downstream_gene
| -1.464844
| 0.024119
| 0.244
| 0.372
| -0
| null | null |
1
| 54,202
|
G
|
C
| true
|
downstream_gene
| -2.008057
| 0.013106
| -0.031
| -0.848
| -0.023
| null | null |
1
| 54,209
|
G
|
C
| true
|
downstream_gene
| -0.998535
| 0.08079
| 0.837
| -0.016
| -0
| null | null |
1
| 54,231
|
G
|
T
| true
|
downstream_gene
| -2.319336
| -0.276483
| 0.178
| 0.358
| -0
| null | null |
1
| 54,272
|
A
|
G
| true
|
downstream_gene
| -1.53418
| -0.1851
| -0.125
| 1.701
| -0
| null | null |
1
| 54,276
|
C
|
G
| true
|
downstream_gene
| -0.01416
| 0.181103
| 0.486
| -0.431
| -0
| null | null |
1
| 54,282
|
A
|
G
| true
|
downstream_gene
| -1.699219
| -0.544602
| -1.789
| -0.818
| -0.028
| null | null |
1
| 54,317
|
C
|
G
| true
|
intergenic
| -1.46875
| -0.116405
| 0.433
| 0.434
| -0
| null | null |
1
| 54,331
|
A
|
G
| true
|
intergenic
| -1.428223
| -0.349269
| 0.054
| -1.565
| -0
| null | null |
1
| 54,358
|
C
|
T
| true
|
intergenic
| -0.621094
| 0.277056
| 2.181
| 0.348
| -0
| null | null |
1
| 54,359
|
C
|
T
| true
|
intergenic
| -1.283203
| 0.235725
| 0.946
| -0.131
| -0
| null | null |
1
| 54,366
|
A
|
G
| false
|
intergenic
| -1.580566
| -0.252664
| -0.289
| -0.107
| -0.067
| null | null |
1
| 54,376
|
G
|
C
| true
|
intergenic
| -1.481934
| 0.04463
| 1.034
| 0.727
| -0
| null | null |
1
| 54,380
|
T
|
C
| false
|
intergenic
| -1.324219
| -0.529307
| 0.018
| 0.162
| -0
| null | null |
1
| 54,384
|
C
|
A
| true
|
intergenic
| -1.690918
| -0.759483
| -1.25
| -1.79
| -0.007
| null | null |
1
| 54,390
|
A
|
T
| true
|
intergenic
| -1.556641
| -0.181401
| 0.959
| -0.967
| -0
| null | null |
1
| 54,391
|
C
|
T
| true
|
intergenic
| -1.345215
| -0.555224
| -0.125
| -0.128
| -0
| null | null |
1
| 54,393
|
T
|
C
| true
|
intergenic
| -1.533691
| -0.935908
| -1.178
| -1.559
| -0.003
| null | null |
1
| 54,419
|
T
|
G
| true
|
intergenic
| -1.980225
| -0.571402
| -0.999
| -1.691
| -0.039
| null | null |
1
| 54,421
|
A
|
G
| false
|
intergenic
| 1.258301
| -0.02868
| 0.568
| -0.333
| -0.001
| null | null |
1
| 54,427
|
C
|
T
| true
|
intergenic
| -1.467773
| -0.011421
| 0.057
| -0.491
| -0.001
| null | null |
1
| 54,432
|
G
|
T
| true
|
intergenic
| -1.500977
| -0.098498
| -0.345
| 0.05
| -0.001
| null | null |
1
| 54,437
|
G
|
A
| true
|
intergenic
| -1.964844
| 0.075461
| 0.392
| -0.073
| -0
| null | null |
1
| 54,440
|
A
|
G
| true
|
intergenic
| -3.092285
| -0.497333
| -0.474
| -1.721
| -0.008
| null | null |
1
| 54,451
|
T
|
C
| true
|
intergenic
| -1.855469
| -0.364645
| -0.077
| -1.75
| -0.002
| null | null |
1
| 54,457
|
C
|
T
| true
|
intergenic
| 1.491211
| 0.043163
| 0.308
| -0.141
| -0
| null | null |
1
| 54,460
|
C
|
T
| true
|
intergenic
| -1.774414
| -0.367565
| -0.498
| -0.352
| -0.008
| null | null |
1
| 54,486
|
T
|
G
| true
|
intergenic
| -1.443359
| 0.031767
| 0.665
| 0.518
| -0
| null | null |
1
| 54,490
|
G
|
A
| false
|
intergenic
| 0.039063
| 0.201295
| 0.313
| -0.029
| -0
| null | null |
1
| 54,494
|
T
|
G
| true
|
intergenic
| -1.869873
| -0.438216
| -1.126
| -0.623
| -0.013
| null | null |
1
| 54,505
|
C
|
T
| true
|
intergenic
| -1.095703
| -0.234935
| 0.046
| -0.278
| -0
| null | null |
1
| 54,513
|
C
|
T
| true
|
intergenic
| -1.300781
| -0.428954
| -0.779
| -1.089
| -0.001
| null | null |
1
| 54,517
|
G
|
A
| true
|
intergenic
| -1.792969
| 0.518077
| 2.689
| 1.472
| -0
| null | null |
1
| 54,518
|
C
|
A
| true
|
intergenic
| -0.658813
| -0.082859
| -0.143
| 0.032
| -0.038
| null | null |
1
| 54,558
|
T
|
C
| true
|
intergenic
| -2.631348
| -0.450594
| -0.767
| 1.169
| -0.027
| null | null |
1
| 54,567
|
T
|
C
| true
|
intergenic
| -1.481934
| -0.344737
| -0.283
| -0.541
| -0
| null | null |
1
| 54,584
|
A
|
C
| true
|
intergenic
| -1.467285
| -0.388032
| -0.625
| -0.121
| -0.001
| null | null |
1
| 54,586
|
T
|
C
| false
|
intergenic
| 0.938477
| -0.178471
| 0.549
| 0.213
| -0
| null | null |
1
| 54,604
|
C
|
T
| true
|
intergenic
| 3.111816
| -0.306589
| -0.565
| -0.204
| -0.012
| null | null |
1
| 54,615
|
T
|
C
| true
|
intergenic
| -2.470215
| -0.253764
| 0.1
| 1.016
| -0.013
| null | null |
1
| 54,644
|
C
|
T
| true
|
intergenic
| -1.631836
| -0.324707
| -0.767
| -1.289
| -0.001
| null | null |
1
| 54,649
|
C
|
T
| true
|
intergenic
| 0.074219
| 0.529926
| 1.594
| 1.431
| -0
| null | null |
1
| 54,669
|
C
|
T
| true
|
intergenic
| -2.466797
| -0.210806
| -0.143
| -1.296
| -0.008
| null | null |
1
| 54,676
|
C
|
T
| false
|
intergenic
| 3.914063
| -0.059604
| 0.086
| -0.285
| -0.007
| null | null |
1
| 54,677
|
A
|
C
| true
|
intergenic
| -4.26062
| -0.366321
| -0.848
| -0.64
| -0.006
| null | null |
1
| 54,692
|
G
|
T
| true
|
intergenic
| -1.549805
| -0.001462
| 0.062
| -0.102
| -0
| null | null |
1
| 54,694
|
G
|
T
| true
|
intergenic
| -2.126953
| -0.087673
| 0.089
| -0.041
| -0
| null | null |
1
| 54,696
|
C
|
G
| true
|
intergenic
| -2.218506
| -0.232655
| -0.43
| -0.676
| -0.009
| null | null |
1
| 54,702
|
A
|
G
| true
|
intergenic
| -3.025879
| -0.474694
| -0.448
| -0.177
| -0.017
| null | null |
1
| 54,704
|
C
|
T
| true
|
intergenic
| -2.487793
| -0.208514
| -0.318
| -0.071
| -0.031
| null | null |
1
| 54,710
|
A
|
T
| true
|
intergenic
| -2.822754
| -0.177316
| -0.111
| -0.418
| -0.068
| null | null |
1
| 54,725
|
T
|
G
| true
|
intergenic
| -3.419434
| 0.073273
| 1.676
| -0.072
| -0
| null | null |
1
| 54,734
|
T
|
A
| true
|
intergenic
| -4.88623
| 0.044803
| 0.085
| -0.072
| -0
| null | null |
1
| 54,740
|
C
|
A
| true
|
intergenic
| -4.416504
| -0.0516
| -0.796
| -0.087
| -0.002
| null | null |
1
| 54,760
|
C
|
A
| true
|
intergenic
| -1.026367
| 0.164159
| 0.945
| -0.087
| -0.001
| null | null |
1
| 54,768
|
C
|
T
| true
|
intergenic
| 1.646484
| 0.09772
| 0.963
| -0.532
| -0.002
| null | null |
1
| 54,796
|
T
|
G
| true
|
intergenic
| -0.898438
| -0.132242
| -0.106
| 0.397
| -0.01
| null | null |
1
| 54,802
|
C
|
A
| true
|
intergenic
| -2.201538
| 0.102559
| 0.492
| 0.238
| -0.002
| null | null |
1
| 54,803
|
A
|
C
| true
|
intergenic
| -3.026855
| -0.231726
| -0.987
| -0.418
| -0.003
| null | null |
1
| 54,826
|
G
|
A
| true
|
intergenic
| -0.025391
| 0.0435
| 0.66
| 0.313
| -0.043
| null | null |
1
| 54,831
|
G
|
T
| true
|
intergenic
| 0.213867
| 0.276217
| 2.186
| 1.847
| -0.004
| null | null |
1
| 54,837
|
C
|
G
| true
|
intergenic
| -2.678711
| 0.269083
| 1.591
| 0.919
| -0.002
| null | null |
1
| 54,839
|
A
|
G
| true
|
intergenic
| 1.140625
| -0.064745
| 0.784
| 1.232
| -0.001
| null | null |
1
| 54,844
|
G
|
A
| false
|
intergenic
| -1.818359
| -0.160976
| -0.514
| -0.527
| -0.004
| null | null |
1
| 54,845
|
C
|
A
| true
|
intergenic
| -2.223633
| -0.12996
| -0.429
| -0.532
| -0.005
| null | null |
1
| 54,855
|
T
|
C
| true
|
intergenic
| 0.677734
| -0.228876
| 0.355
| -0.419
| -0.004
| null | null |
1
| 54,857
|
T
|
C
| true
|
intergenic
| -0.105469
| -0.342984
| -0.271
| -0.419
| -0.021
| null | null |
1
| 54,858
|
C
|
G
| true
|
intergenic
| 0.087891
| -0.178901
| -0.269
| -0.532
| -0.032
| null | null |
1
| 54,870
|
C
|
G
| true
|
intergenic
| -1.571777
| -0.176298
| -0.269
| -0.532
| -0.063
| null | null |
1
| 54,871
|
T
|
A
| true
|
intergenic
| -2.258301
| -0.30181
| -0.53
| -0.419
| -0.063
| null | null |
1
| 54,880
|
C
|
G
| true
|
intergenic
| -0.181641
| -0.102201
| -0.269
| -0.532
| -0.007
| null | null |
1
| 54,885
|
T
|
C
| true
|
intergenic
| -1.568848
| -0.25229
| -0.271
| -0.419
| -0.002
| null | null |
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