chrom
stringclasses
24 values
pos
int64
10.2k
249M
ref
stringclasses
4 values
alt
stringclasses
4 values
label
stringclasses
4 values
source
stringclasses
4 values
consequence
stringlengths
9
465
id
stringlengths
1
7
review_status
stringclasses
5 values
GENOMIC_MUTATION_ID
stringlengths
12
12
n_samples
float64
44
1.46k
total_samples
float64
43.2k
43.2k
freq
float64
0
0.03
OMIM
stringlengths
3
10
Gene
stringlengths
2
8
PMID
float64
1.37M
26.6M
AC
float64
1
152k
AN
float64
140k
152k
AF
float64
0
1
MAF
float64
0
0.5
MAC
float64
1
76.1k
1
897,362
C
T
Rare
gnomAD
intergenic_variant
null
null
null
null
null
null
null
null
null
1
152,062
0.000007
0.000007
1
1
897,538
T
C
Common
gnomAD
intergenic_variant
null
null
null
null
null
null
null
null
null
55,728
151,878
0.366926
0.366926
55,728
1
897,843
C
T
Common
gnomAD
intergenic_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
47,926
151,688
0.315951
0.315951
47,926
1
897,922
C
T
Common
gnomAD
intergenic_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
47,979
151,854
0.315955
0.315955
47,979
1
898,261
T
C
Common
gnomAD
intergenic_variant
null
null
null
null
null
null
null
null
null
48,347
151,894
0.318294
0.318294
48,347
1
898,279
T
A
Common
gnomAD
intergenic_variant
null
null
null
null
null
null
null
null
null
48,205
151,572
0.318034
0.318034
48,205
1
898,283
A
G
Common
gnomAD
intergenic_variant
null
null
null
null
null
null
null
null
null
48,191
151,824
0.317414
0.317414
48,191
1
898,444
T
C
Common
gnomAD
intergenic_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
48,076
151,964
0.316364
0.316364
48,076
1
898,500
G
A
Rare
gnomAD
TF_binding_site_variant,intergenic_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,228
0.000007
0.000007
1
1
898,547
T
C
Common
gnomAD
intergenic_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
29,024
151,872
0.191108
0.191108
29,024
1
898,676
A
C
Common
gnomAD
intergenic_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
20,551
152,072
0.13514
0.13514
20,551
1
898,677
T
C
Rare
gnomAD
intergenic_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,182
0.000007
0.000007
1
1
898,818
T
C
Common
gnomAD
intergenic_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
26,703
151,966
0.175717
0.175717
26,703
1
899,228
A
G
Rare
gnomAD
intergenic_variant
null
null
null
null
null
null
null
null
null
1
150,268
0.000007
0.000007
1
1
899,452
G
C
Common
gnomAD
intergenic_variant
null
null
null
null
null
null
null
null
null
47,868
151,822
0.31529
0.31529
47,868
1
899,548
A
G
Common
gnomAD
intergenic_variant
null
null
null
null
null
null
null
null
null
31,306
151,862
0.206148
0.206148
31,306
1
899,576
G
A
Common
gnomAD
intergenic_variant
null
null
null
null
null
null
null
null
null
15,802
152,076
0.103909
0.103909
15,802
1
899,619
G
A
Common
gnomAD
intergenic_variant
null
null
null
null
null
null
null
null
null
31,000
151,994
0.203955
0.203955
31,000
1
899,668
T
G
Rare
gnomAD
intergenic_variant
null
null
null
null
null
null
null
null
null
1
152,184
0.000007
0.000007
1
1
900,119
A
G
Common
gnomAD
upstream_gene_variant
null
null
null
null
null
null
null
null
null
44,777
151,944
0.294694
0.294694
44,777
1
900,239
G
T
Rare
gnomAD
upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,210
0.000007
0.000007
1
1
900,346
C
T
Rare
gnomAD
upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,230
0.000007
0.000007
1
1
901,544
G
A
Common
gnomAD
upstream_gene_variant
null
null
null
null
null
null
null
null
null
26,598
152,180
0.17478
0.17478
26,598
1
901,560
C
T
Rare
gnomAD
upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,242
0.000007
0.000007
1
1
901,705
G
A
Rare
gnomAD
upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,214
0.000007
0.000007
1
1
902,136
T
C
Rare
gnomAD
upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,196
0.000007
0.000007
1
1
902,558
T
G
Rare
gnomAD
upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,022
0.000007
0.000007
1
1
903,007
T
C
Common
gnomAD
upstream_gene_variant
null
null
null
null
null
null
null
null
null
32,241
152,032
0.212067
0.212067
32,241
1
903,175
C
A
Common
gnomAD
upstream_gene_variant
null
null
null
null
null
null
null
null
null
43,717
151,906
0.28779
0.28779
43,717
1
903,723
A
G
Common
gnomAD
regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
48,998
152,014
0.322326
0.322326
48,998
1
904,947
G
A
Common
gnomAD
TF_binding_site_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
24,775
151,348
0.163696
0.163696
24,775
1
905,301
G
A
Rare
gnomAD
TF_binding_site_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,162
0.000007
0.000007
1
1
905,874
C
T
Rare
gnomAD
intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
1
152,184
0.000007
0.000007
1
1
905,958
A
G
Rare
gnomAD
intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
1
151,728
0.000007
0.000007
1
1
906,216
C
T
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,260
0.000007
0.000007
1
1
906,296
C
T
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,210
0.000007
0.000007
1
1
906,633
T
G
Common
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
28,805
150,766
0.191058
0.191058
28,805
1
907,060
A
G
Rare
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,172
0.000007
0.000007
1
1
907,152
T
C
Rare
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,120
0.000007
0.000007
1
1
909,903
G
T
Common
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
117,716
149,242
0.788759
0.211241
31,526
1
910,076
C
G
Rare
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
145,846
0.000007
0.000007
1
1
910,255
C
T
Common
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
25,355
151,494
0.167366
0.167366
25,355
1
910,558
G
A
Common
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
46,825
151,916
0.30823
0.30823
46,825
1
910,698
C
T
Common
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
25,391
152,088
0.166949
0.166949
25,391
1
910,798
C
G
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,232
0.000007
0.000007
1
1
910,937
C
G
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,250
0.000007
0.000007
1
1
911,109
T
C
Common
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
113,972
152,010
0.749766
0.250234
38,038
1
911,163
G
T
Common
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
13,343
152,102
0.087724
0.087724
13,343
1
911,428
C
T
Common
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
36,806
152,138
0.241925
0.241925
36,806
1
911,484
G
C
Common
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
33,134
152,082
0.217869
0.217869
33,134
1
911,848
C
T
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
35,916
151,988
0.236308
0.236308
35,916
1
911,917
G
A
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
9,235
152,142
0.0607
0.0607
9,235
1
911,983
G
T
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,146
0.000007
0.000007
1
1
912,111
G
A
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
37,922
152,064
0.249382
0.249382
37,922
1
912,581
C
A
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,208
0.000007
0.000007
1
1
912,830
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,230
0.000007
0.000007
1
1
913,065
G
A
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
37,408
152,052
0.246021
0.246021
37,408
1
913,517
C
G
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,222
0.000007
0.000007
1
1
914,061
A
G
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
8,855
151,870
0.058306
0.058306
8,855
1
914,173
A
G
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
13,547
152,120
0.089055
0.089055
13,547
1
914,618
A
G
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
124,422
151,902
0.819094
0.180906
27,480
1
914,675
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
1
152,148
0.000007
0.000007
1
1
914,682
A
T
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
37,950
151,824
0.24996
0.24996
37,950
1
914,743
C
T
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
27,261
151,576
0.17985
0.17985
27,261
1
914,838
T
A
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
64,921
149,514
0.434214
0.434214
64,921
1
915,039
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
151,810
0.000007
0.000007
1
1
915,214
A
G
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,242
0.000007
0.000007
1
1
915,400
C
T
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
82,887
151,960
0.545453
0.454547
69,073
1
915,600
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,188
0.000007
0.000007
1
1
915,810
G
A
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
36,441
152,044
0.239674
0.239674
36,441
1
915,824
G
C
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
41,247
152,018
0.27133
0.27133
41,247
1
915,928
G
A
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
1
152,256
0.000007
0.000007
1
1
916,119
A
G
Common
gnomAD
downstream_gene_variant
null
null
null
null
null
null
null
null
null
123,591
152,042
0.812874
0.187126
28,451
1
916,576
C
G
Rare
gnomAD
downstream_gene_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,214
0.000007
0.000007
1
1
916,657
G
A
Common
gnomAD
downstream_gene_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
65,095
151,894
0.428555
0.428555
65,095
1
916,683
G
A
Common
gnomAD
downstream_gene_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
65,217
151,960
0.429172
0.429172
65,217
1
916,753
C
T
Common
gnomAD
downstream_gene_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
114,098
152,130
0.750003
0.249997
38,032
1
916,943
C
T
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,204
0.000007
0.000007
1
1
917,063
A
C
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
9,061
152,096
0.059574
0.059574
9,061
1
917,284
C
T
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
27,495
152,040
0.180841
0.180841
27,495
1
917,378
G
C
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
24,949
152,086
0.164045
0.164045
24,949
1
917,636
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,096
0.000007
0.000007
1
1
917,750
G
A
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
9,061
152,094
0.059575
0.059575
9,061
1
917,859
A
G
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
25,405
152,130
0.166995
0.166995
25,405
1
918,425
C
T
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
11,049
152,140
0.072624
0.072624
11,049
1
918,437
T
C
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
1
152,194
0.000007
0.000007
1
1
918,450
C
G
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
1
152,260
0.000007
0.000007
1
1
918,574
C
A
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
79,051
152,016
0.520018
0.479982
72,965
1
918,870
A
G
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
33,470
152,080
0.220082
0.220082
33,470
1
918,873
G
A
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,208
0.000007
0.000007
1
1
919,049
G
A
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
11,228
152,162
0.07379
0.07379
11,228
1
919,397
A
G
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
97,153
151,812
0.639956
0.360044
54,659
1
919,601
G
A
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,256
0.000007
0.000007
1
1
919,653
A
C
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,186
0.000007
0.000007
1
1
919,695
C
G
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
96,387
151,994
0.63415
0.36585
55,607
1
920,041
C
T
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,272
0.000007
0.000007
1
1
920,406
C
T
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,220
0.000007
0.000007
1
1
920,719
T
G
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
56,293
151,902
0.370588
0.370588
56,293
1
920,728
A
G
Common
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
56,324
151,926
0.370733
0.370733
56,324
1
920,775
G
C
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,220
0.000007
0.000007
1