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
921,043
C
G
Rare
gnomAD
3_prime_UTR_variant,TF_binding_site_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
148,986
0.000007
0.000007
1
1
921,762
T
A
Rare
gnomAD
3_prime_UTR_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,522
0.000007
0.000007
1
1
921,797
T
C
Common
gnomAD
3_prime_UTR_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
24,724
151,768
0.162907
0.162907
24,724
1
921,873
G
A
Rare
gnomAD
3_prime_UTR_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,164
0.000007
0.000007
1
1
922,063
C
T
Common
gnomAD
3_prime_UTR_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
16,642
152,082
0.109428
0.109428
16,642
1
922,660
C
A
Common
gnomAD
3_prime_UTR_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
26,120
152,014
0.171826
0.171826
26,120
1
922,671
C
T
Common
gnomAD
3_prime_UTR_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
26,697
152,018
0.175617
0.175617
26,697
1
922,926
C
G
Rare
gnomAD
3_prime_UTR_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,236
0.000007
0.000007
1
1
923,411
G
A
Rare
gnomAD
3_prime_UTR_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,166
0.000007
0.000007
1
1
923,421
A
G
Common
gnomAD
3_prime_UTR_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
92,605
151,830
0.609926
0.390074
59,225
1
924,024
C
G
Common
gnomAD
5_prime_UTR_variant,regulatory_region_variant,synonymous_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
116,816
149,990
0.778825
0.221175
33,174
1
924,305
G
A
Common
gnomAD
5_prime_UTR_variant,missense_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
25,773
149,442
0.172462
0.172462
25,773
1
924,310
C
G
Common
gnomAD
5_prime_UTR_variant,missense_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
118,962
149,302
0.796788
0.203212
30,340
1
924,321
C
G
Common
gnomAD
5_prime_UTR_variant,regulatory_region_variant,synonymous_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
118,952
149,264
0.796924
0.203076
30,312
1
924,533
A
G
Common
gnomAD
missense_variant,regulatory_region_variant,synonymous_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
122,704
149,364
0.82151
0.17849
26,660
1
925,036
G
A
Common
gnomAD
intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
92,260
151,766
0.60791
0.39209
59,506
1
925,081
G
A
Common
gnomAD
intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
118,790
151,752
0.78279
0.21721
32,962
1
925,141
C
A
Common
gnomAD
intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
118,863
151,856
0.782735
0.217265
32,993
1
926,327
G
A
Rare
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,252
0.000007
0.000007
1
1
926,938
G
A
Rare
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,166
0.000007
0.000007
1
1
927,003
C
T
Common
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
119,212
151,660
0.786048
0.213952
32,448
1
927,009
A
G
Common
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
117,535
151,280
0.776937
0.223063
33,745
1
927,237
A
G
Rare
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,148
0.000007
0.000007
1
1
927,255
A
C
Rare
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,192
0.000007
0.000007
1
1
927,486
C
T
Common
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
90,744
151,938
0.597244
0.402756
61,194
1
927,744
G
T
Common
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
119,493
152,136
0.785435
0.214565
32,643
1
927,758
A
C
Common
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
7,896
152,162
0.051892
0.051892
7,896
1
928,176
G
A
Common
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
137,272
151,438
0.906457
0.093543
14,166
1
928,252
C
T
Common
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
34,686
151,702
0.228646
0.228646
34,686
1
928,261
G
A
Common
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
34,449
151,798
0.22694
0.22694
34,449
1
928,396
A
C
Common
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
19,828
152,022
0.130428
0.130428
19,828
1
928,463
C
T
Common
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
19,706
152,178
0.129493
0.129493
19,706
1
928,483
G
A
Common
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
25,056
152,166
0.164662
0.164662
25,056
1
928,622
G
C
Common
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
26,318
152,166
0.172956
0.172956
26,318
1
929,375
A
G
Common
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
126,234
152,036
0.83029
0.16971
25,802
1
929,377
G
A
Common
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
126,244
152,038
0.830345
0.169655
25,794
1
929,382
C
T
Rare
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,192
0.000007
0.000007
1
1
929,390
G
C
Rare
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,228
0.000007
0.000007
1
1
929,443
G
A
Rare
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,224
0.000007
0.000007
1
1
929,558
G
A
Common
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
90,707
151,990
0.596796
0.403204
61,283
1
929,638
T
C
Rare
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,134
0.000007
0.000007
1
1
929,839
G
A
Common
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
26,165
152,090
0.172036
0.172036
26,165
1
929,921
C
G
Rare
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,234
0.000007
0.000007
1
1
929,965
A
G
Rare
gnomAD
intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,076
0.000007
0.000007
1
1
931,283
C
T
Rare
gnomAD
intron_variant
null
null
null
null
null
null
null
null
null
1
152,176
0.000007
0.000007
1
1
931,513
T
C
Common
gnomAD
intron_variant
null
null
null
null
null
null
null
null
null
68,377
151,912
0.450109
0.450109
68,377
1
931,558
G
A
Common
gnomAD
intron_variant
null
null
null
null
null
null
null
null
null
35,927
152,064
0.236262
0.236262
35,927
1
932,129
T
C
Rare
gnomAD
intron_variant
null
null
null
null
null
null
null
null
null
1
152,220
0.000007
0.000007
1
1
932,255
C
T
Common
gnomAD
intron_variant
null
null
null
null
null
null
null
null
null
26,127
152,074
0.171805
0.171805
26,127
1
932,386
G
A
Rare
gnomAD
intron_variant
null
null
null
null
null
null
null
null
null
1
152,190
0.000007
0.000007
1
1
932,716
T
C
Common
gnomAD
intron_variant
null
null
null
null
null
null
null
null
null
17,113
152,142
0.11248
0.11248
17,113
1
932,969
G
A
Rare
gnomAD
intron_variant
null
null
null
null
null
null
null
null
null
1
152,182
0.000007
0.000007
1
1
933,038
C
T
Common
gnomAD
intron_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
36,070
152,102
0.237143
0.237143
36,070
1
933,049
A
G
Rare
gnomAD
intron_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,038
0.000007
0.000007
1
1
933,411
C
T
Common
gnomAD
intron_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
135,655
152,054
0.89215
0.10785
16,399
1
933,601
C
T
Common
gnomAD
intron_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
119,050
151,992
0.783265
0.216735
32,942
1
935,206
G
A
Rare
gnomAD
intron_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
935,265
T
C
Common
gnomAD
intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
35,016
151,940
0.230459
0.230459
35,016
1
935,271
C
T
Common
gnomAD
intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
8,515
152,054
0.056
0.056
8,515
1
935,311
C
T
Rare
gnomAD
intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,094
0.000007
0.000007
1
1
935,431
G
A
Common
gnomAD
intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
12,860
145,930
0.088124
0.088124
12,860
1
935,744
G
A
Rare
gnomAD
intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,228
0.000007
0.000007
1
1
935,838
G
C
Rare
gnomAD
downstream_gene_variant,intron_variant,missense_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
936,129
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,226
0.000007
0.000007
1
1
936,392
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
147,440
0.000007
0.000007
1
1
936,541
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,144
0.000007
0.000007
1
1
936,707
T
C
Common
gnomAD
downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
8,318
152,018
0.054717
0.054717
8,318
1
936,711
T
G
Common
gnomAD
downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
8,318
152,054
0.054704
0.054704
8,318
1
936,719
A
G
Rare
gnomAD
downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,066
0.000007
0.000007
1
1
936,972
G
C
Common
gnomAD
downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
51,922
151,944
0.341718
0.341718
51,922
1
937,693
G
T
Rare
gnomAD
downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,140
0.000007
0.000007
1
1
938,014
A
G
Common
gnomAD
downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
27,317
151,822
0.179928
0.179928
27,317
1
938,479
G
T
Common
gnomAD
TF_binding_site_variant,downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
11,834
152,128
0.07779
0.07779
11,834
1
938,636
T
C
Rare
gnomAD
TF_binding_site_variant,downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,990
0.000007
0.000007
1
1
938,654
G
A
Common
gnomAD
downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
11,356
151,910
0.074755
0.074755
11,356
1
939,365
C
T
Rare
gnomAD
TF_binding_site_variant,downstream_gene_variant,intron_variant,missense_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
150,000
0.000007
0.000007
1
1
939,547
A
G
Common
gnomAD
downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
8,245
147,358
0.055952
0.055952
8,245
1
939,702
G
T
Rare
gnomAD
downstream_gene_variant,intron_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,162
0.000007
0.000007
1
1
940,390
A
G
Common
gnomAD
TF_binding_site_variant,downstream_gene_variant,intron_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
68,782
150,218
0.457881
0.457881
68,782
1
940,496
C
G
Rare
gnomAD
TF_binding_site_variant,downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,144
0.000007
0.000007
1
1
940,499
G
C
Rare
gnomAD
TF_binding_site_variant,downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,210
0.000007
0.000007
1
1
940,541
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,206
0.000007
0.000007
1
1
940,592
C
A
Rare
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,210
0.000007
0.000007
1
1
940,687
C
T
Common
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
7,841
152,176
0.051526
0.051526
7,841
1
940,920
C
G
Rare
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,242
0.000007
0.000007
1
1
940,947
T
G
Rare
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,964
0.000007
0.000007
1
1
941,119
A
G
Common
gnomAD
downstream_gene_variant,intron_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
140,944
152,042
0.927007
0.072993
11,098
1
941,569
G
C
Common
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
7,804
151,964
0.051354
0.051354
7,804
1
941,787
A
G
Rare
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,916
0.000007
0.000007
1
1
941,894
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,968
0.000007
0.000007
1
1
942,043
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,066
0.000007
0.000007
1
1
943,658
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant
null
null
null
null
null
null
null
null
null
1
151,782
0.000007
0.000007
1
1
943,719
G
C
Rare
gnomAD
3_prime_UTR_variant,downstream_gene_variant,missense_variant
null
null
null
null
null
null
null
null
null
1
151,932
0.000007
0.000007
1
1
943,839
C
A
Rare
gnomAD
downstream_gene_variant,intron_variant,missense_variant
null
null
null
null
null
null
null
null
null
1
152,140
0.000007
0.000007
1
1
943,937
C
T
Common
gnomAD
3_prime_UTR_variant,downstream_gene_variant,synonymous_variant
null
null
null
null
null
null
null
null
null
12,242
152,148
0.080461
0.080461
12,242
1
944,296
G
A
Common
gnomAD
3_prime_UTR_variant,downstream_gene_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
137,555
152,160
0.904016
0.095984
14,605
1
944,307
T
C
Common
gnomAD
3_prime_UTR_variant,downstream_gene_variant,non_coding_transcript_exon_variant
null
null
null
null
null
null
null
null
null
142,165
152,192
0.934116
0.065884
10,027
1
944,739
C
T
Rare
gnomAD
downstream_gene_variant,non_coding_transcript_exon_variant,synonymous_variant
null
null
null
null
null
null
null
null
null
1
152,152
0.000007
0.000007
1
1
944,909
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,224
0.000007
0.000007
1
1
945,853
C
G
Rare
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,226
0.000007
0.000007
1