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
14,731
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
148,066
0.000007
0.000007
1
1
16,487
T
C
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
9,468
140,496
0.06739
0.06739
9,468
1
62,015
C
G
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
141,416
0.000007
0.000007
1
1
62,046
A
T
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
140,080
0.000007
0.000007
1
1
64,866
T
G
Rare
gnomAD
downstream_gene_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
140,214
0.000007
0.000007
1
1
103,238
G
A
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
150,128
0.000007
0.000007
1
1
105,345
A
C
Rare
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
141,080
0.000007
0.000007
1
1
109,400
T
C
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
151,200
0.000007
0.000007
1
1
113,810
C
A
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
149,284
0.000007
0.000007
1
1
123,901
C
G
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
150,578
0.000007
0.000007
1
1
124,013
A
C
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,388
0.000007
0.000007
1
1
126,113
C
A
Common
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
135,835
144,502
0.940022
0.059978
8,667
1
126,359
A
G
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,760
0.000007
0.000007
1
1
129,315
A
G
Common
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
15,364
144,124
0.106603
0.106603
15,364
1
133,160
G
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
13,758
148,950
0.092367
0.092367
13,758
1
133,194
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
151,700
0.000007
0.000007
1
1
133,483
G
T
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
44,261
143,434
0.308581
0.308581
44,261
1
135,040
T
C
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
13,459
148,318
0.090744
0.090744
13,459
1
137,825
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
31,765
147,196
0.215801
0.215801
31,765
1
138,551
G
C
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
152,046
0.000007
0.000007
1
1
138,593
G
T
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
15,764
149,200
0.105657
0.105657
15,764
1
139,213
A
G
Common
gnomAD
TF_binding_site_variant,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
42,485
144,294
0.294434
0.294434
42,485
1
139,233
C
A
Common
gnomAD
TF_binding_site_variant,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
42,504
144,312
0.294529
0.294529
42,504
1
139,308
G
T
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
152,022
0.000007
0.000007
1
1
181,512
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
148,886
0.000007
0.000007
1
1
181,930
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
150,830
0.000007
0.000007
1
1
181,967
C
G
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,214
0.000007
0.000007
1
1
183,040
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
142,786
0.000007
0.000007
1
1
183,473
G
T
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,774
0.000007
0.000007
1
1
184,360
T
C
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
151,068
0.000007
0.000007
1
1
184,399
T
C
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
151,496
0.000007
0.000007
1
1
187,009
T
C
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant
null
null
null
null
null
null
null
null
null
1
152,094
0.000007
0.000007
1
1
189,448
T
C
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,146
0.000007
0.000007
1
1
190,661
C
A
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,408
0.000007
0.000007
1
1
190,946
C
G
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,240
0.000007
0.000007
1
1
191,471
G
A
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,284
0.000007
0.000007
1
1
191,773
C
A
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,246
0.000007
0.000007
1
1
191,790
C
T
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,246
0.000007
0.000007
1
1
264,499
T
C
Rare
gnomAD
intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,444
0.000007
0.000007
1
1
266,100
C
T
Rare
gnomAD
intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
146,614
0.000007
0.000007
1
1
267,585
C
T
Rare
gnomAD
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
152,212
0.000007
0.000007
1
1
267,742
T
A
Rare
gnomAD
TF_binding_site_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
150,834
0.000007
0.000007
1
1
268,634
G
C
Rare
gnomAD
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
152,124
0.000007
0.000007
1
1
269,178
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,222
0.000007
0.000007
1
1
269,184
T
C
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,204
0.000007
0.000007
1
1
269,228
A
T
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,982
0.000007
0.000007
1
1
269,283
T
C
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,046
0.000007
0.000007
1
1
270,731
T
C
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,000
0.000007
0.000007
1
1
270,936
C
A
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
149,508
0.000007
0.000007
1
1
271,359
G
T
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
150,762
0.000007
0.000007
1
1
274,143
T
A
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
151,344
0.000007
0.000007
1
1
278,389
C
T
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,100
0.000007
0.000007
1
1
283,047
T
A
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
152,300
0.000007
0.000007
1
1
286,723
A
T
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
144,050
0.000007
0.000007
1
1
286,747
A
G
Common
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
17,547
142,340
0.123275
0.123275
17,547
1
502,653
G
T
Common
gnomAD
TF_binding_site_variant,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
12,969
149,076
0.086996
0.086996
12,969
1
505,171
C
T
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,476
0.000007
0.000007
1
1
605,658
C
T
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
141,710
0.000007
0.000007
1
1
608,783
C
T
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
142,484
0.000007
0.000007
1
1
632,597
C
G
Rare
gnomAD
TF_binding_site_variant,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
141,786
0.000007
0.000007
1
1
656,707
G
A
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
145,854
0.000007
0.000007
1
1
667,417
G
A
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
141,792
0.000007
0.000007
1
1
701,359
A
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
149,804
0.000007
0.000007
1
1
701,384
C
T
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
149,646
0.000007
0.000007
1
1
701,585
A
T
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
150,304
0.000007
0.000007
1
1
702,400
T
C
Rare
gnomAD
intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
150,474
0.000007
0.000007
1
1
727,242
G
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
22,212
142,898
0.15544
0.15544
22,212
1
730,801
G
A
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,170
0.000007
0.000007
1
1
734,220
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
145,906
0.000007
0.000007
1
1
736,852
C
T
Common
gnomAD
downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
11,218
149,074
0.075251
0.075251
11,218
1
737,549
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
152,156
0.000007
0.000007
1
1
739,119
A
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
150,322
0.000007
0.000007
1
1
757,731
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
149,702
0.000007
0.000007
1
1
758,351
A
G
Common
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
22,614
147,596
0.153216
0.153216
22,614
1
758,443
G
C
Common
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
23,465
149,308
0.157158
0.157158
23,465
1
762,385
C
T
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,058
0.000007
0.000007
1
1
762,483
A
G
Rare
gnomAD
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
147,226
0.000007
0.000007
1
1
767,625
G
T
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
146,596
0.000007
0.000007
1
1
770,036
C
T
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
151,946
0.000007
0.000007
1
1
770,352
G
C
Rare
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
1
151,696
0.000007
0.000007
1
1
770,502
G
A
Common
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
7,838
145,076
0.054027
0.054027
7,838
1
771,265
A
C
Common
gnomAD
intron_variant&non_coding_transcript_variant
null
null
null
null
null
null
null
null
null
11,879
151,090
0.078622
0.078622
11,879
1
774,855
T
A
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,956
0.000007
0.000007
1
1
775,103
G
A
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,516
0.000007
0.000007
1
1
775,930
G
A
Common
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
17,271
140,674
0.122773
0.122773
17,271
1
776,357
G
C
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,984
0.000007
0.000007
1
1
776,848
G
T
Rare
gnomAD
intron_variant&non_coding_transcript_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
150,722
0.000007
0.000007
1
1
777,826
G
T
Rare
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,896
0.000007
0.000007
1
1
777,847
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
151,994
0.000007
0.000007
1
1
777,913
C
T
Rare
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
151,828
0.000007
0.000007
1
1
777,979
G
A
Rare
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
152,146
0.000007
0.000007
1
1
778,304
T
G
Rare
gnomAD
TF_binding_site_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
152,216
0.000007
0.000007
1
1
778,639
A
G
Common
gnomAD
TF_binding_site_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
19,303
150,884
0.127933
0.127933
19,303
1
779,047
G
A
Common
gnomAD
TF_binding_site_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
124,540
151,914
0.819806
0.180194
27,374
1
779,196
G
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
152,154
0.000007
0.000007
1
1
779,827
T
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
152,194
0.000007
0.000007
1
1
780,149
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
152,210
0.000007
0.000007
1
1
780,574
G
T
Rare
gnomAD
intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
null
null
null
null
null
null
null
null
null
1
150,846
0.000007
0.000007
1
1
780,633
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
151,798
0.000007
0.000007
1
1
780,807
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
152,004
0.000007
0.000007
1