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
| 781,638
|
G
|
A
|
Rare
|
gnomAD
|
intron_variant&non_coding_transcript_variant,upstream_gene_variant
| null | null | null | null | null | null | null | null | null | 1
| 151,420
| 0.000007
| 0.000007
| 1
|
1
| 781,857
|
T
|
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
| 152,230
| 0.000007
| 0.000007
| 1
|
1
| 782,181
|
G
|
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
| 152,204
| 0.000007
| 0.000007
| 1
|
1
| 782,221
|
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
| 152,098
| 0.000007
| 0.000007
| 1
|
1
| 783,087
|
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
| 149,812
| 0.000007
| 0.000007
| 1
|
1
| 783,151
|
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
| 151,684
| 0.000007
| 0.000007
| 1
|
1
| 783,283
|
G
|
A
|
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
| 152,172
| 0.000007
| 0.000007
| 1
|
1
| 783,489
|
T
|
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
| 152,160
| 0.000007
| 0.000007
| 1
|
1
| 783,549
|
T
|
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
| 152,140
| 0.000007
| 0.000007
| 1
|
1
| 785,361
|
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
| 151,286
| 0.000007
| 0.000007
| 1
|
1
| 786,807
|
C
|
T
|
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
| 151,668
| 0.000007
| 0.000007
| 1
|
1
| 787,290
|
T
|
C
|
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 | 11,413
| 152,160
| 0.075007
| 0.075007
| 11,413
|
1
| 788,439
|
T
|
A
|
Common
|
gnomAD
|
downstream_gene_variant,intron_variant&non_coding_transcript_variant
| null | null | null | null | null | null | null | null | null | 19,098
| 151,392
| 0.126149
| 0.126149
| 19,098
|
1
| 789,213
|
A
|
G
|
Rare
|
gnomAD
|
downstream_gene_variant,intron_variant&non_coding_transcript_variant
| null | null | null | null | null | null | null | null | null | 1
| 152,056
| 0.000007
| 0.000007
| 1
|
1
| 790,007
|
G
|
A
|
Rare
|
gnomAD
|
TF_binding_site_variant,downstream_gene_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant
| null | null | null | null | null | null | null | null | null | 1
| 150,814
| 0.000007
| 0.000007
| 1
|
1
| 792,106
|
C
|
G
|
Rare
|
gnomAD
|
downstream_gene_variant,intron_variant&non_coding_transcript_variant
| null | null | null | null | null | null | null | null | null | 1
| 151,344
| 0.000007
| 0.000007
| 1
|
1
| 793,804
|
G
|
C
|
Rare
|
gnomAD
|
intron_variant&non_coding_transcript_variant
| null | null | null | null | null | null | null | null | null | 1
| 152,216
| 0.000007
| 0.000007
| 1
|
1
| 795,210
|
T
|
G
|
Rare
|
gnomAD
|
intron_variant&non_coding_transcript_variant,regulatory_region_variant
| null | null | null | null | null | null | null | null | null | 1
| 152,180
| 0.000007
| 0.000007
| 1
|
1
| 795,764
|
C
|
T
|
Rare
|
gnomAD
|
downstream_gene_variant,intron_variant&non_coding_transcript_variant
| null | null | null | null | null | null | null | null | null | 1
| 151,884
| 0.000007
| 0.000007
| 1
|
1
| 797,429
|
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 | 10,289
| 152,108
| 0.067643
| 0.067643
| 10,289
|
1
| 797,658
|
T
|
G
|
Rare
|
gnomAD
|
downstream_gene_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant
| null | null | null | null | null | null | null | null | null | 1
| 152,054
| 0.000007
| 0.000007
| 1
|
1
| 797,836
|
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
| 151,238
| 0.000007
| 0.000007
| 1
|
1
| 798,519
|
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
| 151,498
| 0.000007
| 0.000007
| 1
|
1
| 798,969
|
T
|
C
|
Common
|
gnomAD
|
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
| null | null | null | null | null | null | null | null | null | 23,748
| 151,556
| 0.156695
| 0.156695
| 23,748
|
1
| 800,302
|
G
|
C
|
Common
|
gnomAD
|
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
| null | null | null | null | null | null | null | null | null | 10,160
| 151,974
| 0.066854
| 0.066854
| 10,160
|
1
| 800,506
|
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
| 152,044
| 0.000007
| 0.000007
| 1
|
1
| 800,605
|
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 | 18,230
| 150,840
| 0.120857
| 0.120857
| 18,230
|
1
| 800,782
|
G
|
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
| 151,850
| 0.000007
| 0.000007
| 1
|
1
| 800,909
|
T
|
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 | 22,452
| 150,404
| 0.149278
| 0.149278
| 22,452
|
1
| 800,939
|
A
|
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
| 151,686
| 0.000007
| 0.000007
| 1
|
1
| 800,958
|
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
| 151,680
| 0.000007
| 0.000007
| 1
|
1
| 801,006
|
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 | 7,524
| 149,572
| 0.050304
| 0.050304
| 7,524
|
1
| 801,954
|
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
| 152,274
| 0.000007
| 0.000007
| 1
|
1
| 802,118
|
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
| 152,172
| 0.000007
| 0.000007
| 1
|
1
| 802,785
|
G
|
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
| 152,224
| 0.000007
| 0.000007
| 1
|
1
| 803,095
|
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 | 8,406
| 150,846
| 0.055726
| 0.055726
| 8,406
|
1
| 803,654
|
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
| 152,168
| 0.000007
| 0.000007
| 1
|
1
| 803,830
|
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 | 136,527
| 146,362
| 0.932804
| 0.067196
| 9,835
|
1
| 803,990
|
T
|
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
| 152,050
| 0.000007
| 0.000007
| 1
|
1
| 804,148
|
G
|
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 | 140,454
| 149,798
| 0.937623
| 0.062377
| 9,344
|
1
| 804,177
|
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
| 151,998
| 0.000007
| 0.000007
| 1
|
1
| 804,422
|
G
|
A
|
Rare
|
gnomAD
|
downstream_gene_variant,intron_variant&non_coding_transcript_variant
| null | null | null | null | null | null | null | null | null | 1
| 151,894
| 0.000007
| 0.000007
| 1
|
1
| 804,575
|
G
|
A
|
Rare
|
gnomAD
|
downstream_gene_variant,intron_variant&non_coding_transcript_variant
| null | null | null | null | null | null | null | null | null | 1
| 151,956
| 0.000007
| 0.000007
| 1
|
1
| 804,599
|
G
|
A
|
Rare
|
gnomAD
|
downstream_gene_variant,intron_variant&non_coding_transcript_variant
| null | null | null | null | null | null | null | null | null | 1
| 151,852
| 0.000007
| 0.000007
| 1
|
1
| 804,771
|
C
|
T
|
Rare
|
gnomAD
|
TF_binding_site_variant,downstream_gene_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant,splice_region_variant&intron_variant&non_coding_transcript_variant
| null | null | null | null | null | null | null | null | null | 1
| 152,176
| 0.000007
| 0.000007
| 1
|
1
| 805,036
|
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 | 10,007
| 152,124
| 0.065782
| 0.065782
| 10,007
|
1
| 805,253
|
A
|
T
|
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
| 152,198
| 0.000007
| 0.000007
| 1
|
1
| 805,641
|
T
|
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
| 152,190
| 0.000007
| 0.000007
| 1
|
1
| 806,017
|
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 | 16,899
| 144,360
| 0.117062
| 0.117062
| 16,899
|
1
| 806,470
|
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 | 8,701
| 148,390
| 0.058636
| 0.058636
| 8,701
|
1
| 806,610
|
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 | 8,603
| 142,876
| 0.060213
| 0.060213
| 8,603
|
1
| 806,942
|
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
| 152,078
| 0.000007
| 0.000007
| 1
|
1
| 807,610
|
C
|
T
|
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 | 16,970
| 145,028
| 0.117012
| 0.117012
| 16,970
|
1
| 807,641
|
T
|
C
|
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 | 27,223
| 146,874
| 0.185349
| 0.185349
| 27,223
|
1
| 808,130
|
T
|
C
|
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
| 150,992
| 0.000007
| 0.000007
| 1
|
1
| 808,187
|
A
|
G
|
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
| 151,990
| 0.000007
| 0.000007
| 1
|
1
| 810,260
|
T
|
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
| 151,996
| 0.000007
| 0.000007
| 1
|
1
| 810,447
|
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
| 152,188
| 0.000007
| 0.000007
| 1
|
1
| 810,809
|
A
|
G
|
Common
|
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 | 12,622
| 152,012
| 0.083033
| 0.083033
| 12,622
|
1
| 812,761
|
G
|
A
|
Common
|
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 | 15,194
| 145,140
| 0.104685
| 0.104685
| 15,194
|
1
| 812,899
|
A
|
T
|
Common
|
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 | 18,198
| 146,140
| 0.124524
| 0.124524
| 18,198
|
1
| 812,903
|
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
| 151,904
| 0.000007
| 0.000007
| 1
|
1
| 815,090
|
T
|
C
|
Rare
|
gnomAD
|
intron_variant&non_coding_transcript_variant,upstream_gene_variant
| null | null | null | null | null | null | null | null | null | 1
| 151,168
| 0.000007
| 0.000007
| 1
|
1
| 815,242
|
A
|
C
|
Rare
|
gnomAD
|
intron_variant&non_coding_transcript_variant,upstream_gene_variant
| null | null | null | null | null | null | null | null | null | 1
| 152,114
| 0.000007
| 0.000007
| 1
|
1
| 815,963
|
T
|
A
|
Common
|
gnomAD
|
intron_variant&non_coding_transcript_variant,upstream_gene_variant
| null | null | null | null | null | null | null | null | null | 32,161
| 148,406
| 0.21671
| 0.21671
| 32,161
|
1
| 816,376
|
T
|
C
|
Common
|
gnomAD
|
intron_variant&non_coding_transcript_variant,upstream_gene_variant
| null | null | null | null | null | null | null | null | null | 35,771
| 150,856
| 0.23712
| 0.23712
| 35,771
|
1
| 816,419
|
A
|
C
|
Rare
|
gnomAD
|
intron_variant&non_coding_transcript_variant,upstream_gene_variant
| null | null | null | null | null | null | null | null | null | 1
| 152,080
| 0.000007
| 0.000007
| 1
|
1
| 817,186
|
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 | 108,166
| 151,926
| 0.711965
| 0.288035
| 43,760
|
1
| 817,341
|
A
|
G
|
Common
|
gnomAD
|
intron_variant&non_coding_transcript_variant,regulatory_region_variant,upstream_gene_variant
| null | null | null | null | null | null | null | null | null | 102,817
| 151,812
| 0.677265
| 0.322735
| 48,995
|
1
| 817,416
|
C
|
T
|
Common
|
gnomAD
|
intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,regulatory_region_variant
| null | null | null | null | null | null | null | null | null | 7,966
| 151,298
| 0.052651
| 0.052651
| 7,966
|
1
| 818,027
|
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
| 151,068
| 0.000007
| 0.000007
| 1
|
1
| 818,045
|
T
|
C
|
Common
|
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 | 111,092
| 148,850
| 0.746335
| 0.253665
| 37,758
|
1
| 818,094
|
C
|
G
|
Common
|
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 | 97,542
| 150,956
| 0.646162
| 0.353838
| 53,414
|
1
| 818,161
|
G
|
A
|
Common
|
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 | 40,518
| 151,464
| 0.267509
| 0.267509
| 40,518
|
1
| 818,812
|
A
|
G
|
Common
|
gnomAD
|
intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
| null | null | null | null | null | null | null | null | null | 107,587
| 151,406
| 0.710586
| 0.289414
| 43,819
|
1
| 818,954
|
T
|
C
|
Common
|
gnomAD
|
intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
| null | null | null | null | null | null | null | null | null | 108,012
| 151,868
| 0.711223
| 0.288777
| 43,856
|
1
| 819,584
|
C
|
T
|
Common
|
gnomAD
|
intron_variant&non_coding_transcript_variant,non_coding_transcript_exon_variant,upstream_gene_variant
| null | null | null | null | null | null | null | null | null | 104,208
| 151,766
| 0.686636
| 0.313364
| 47,558
|
1
| 821,003
|
C
|
G
|
Common
|
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 | 13,515
| 140,912
| 0.095911
| 0.095911
| 13,515
|
1
| 821,054
|
G
|
C
|
Common
|
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 | 28,613
| 141,566
| 0.202118
| 0.202118
| 28,613
|
1
| 822,556
|
C
|
A
|
Common
|
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 | 102,501
| 141,722
| 0.723254
| 0.276746
| 39,221
|
1
| 823,302
|
G
|
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
| 150,052
| 0.000007
| 0.000007
| 1
|
1
| 823,913
|
T
|
A
|
Common
|
gnomAD
|
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
| null | null | null | null | null | null | null | null | null | 24,367
| 151,936
| 0.160377
| 0.160377
| 24,367
|
1
| 824,181
|
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
| 151,970
| 0.000007
| 0.000007
| 1
|
1
| 824,320
|
T
|
C
|
Common
|
gnomAD
|
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
| null | null | null | null | null | null | null | null | null | 108,385
| 149,950
| 0.722808
| 0.277192
| 41,565
|
1
| 824,457
|
T
|
A
|
Common
|
gnomAD
|
downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant
| null | null | null | null | null | null | null | null | null | 113,662
| 151,836
| 0.748584
| 0.251416
| 38,174
|
1
| 825,084
|
T
|
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
| 152,196
| 0.000007
| 0.000007
| 1
|
1
| 825,532
|
C
|
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 | 109,969
| 151,904
| 0.723937
| 0.276063
| 41,935
|
1
| 825,767
|
T
|
C
|
Common
|
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 | 109,950
| 151,912
| 0.723774
| 0.276226
| 41,962
|
1
| 826,828
|
T
|
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
| 152,060
| 0.000007
| 0.000007
| 1
|
1
| 826,893
|
G
|
A
|
Common
|
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 | 109,961
| 150,604
| 0.730133
| 0.269867
| 40,643
|
1
| 826,965
|
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 | 8,289
| 148,320
| 0.055886
| 0.055886
| 8,289
|
1
| 827,092
|
C
|
T
|
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 | 27,889
| 148,870
| 0.187338
| 0.187338
| 27,889
|
1
| 827,105
|
C
|
A
|
Common
|
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 | 30,556
| 149,368
| 0.204569
| 0.204569
| 30,556
|
1
| 827,209
|
G
|
C
|
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 | 110,889
| 149,944
| 0.739536
| 0.260464
| 39,055
|
1
| 827,212
|
C
|
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 | 110,989
| 149,924
| 0.740302
| 0.259698
| 38,935
|
1
| 827,221
|
T
|
C
|
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 | 111,406
| 150,102
| 0.742202
| 0.257798
| 38,696
|
1
| 827,252
|
T
|
A
|
Common
|
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 | 112,999
| 150,918
| 0.748744
| 0.251256
| 37,919
|
1
| 827,295
|
C
|
T
|
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
| 152,146
| 0.000007
| 0.000007
| 1
|
1
| 828,811
|
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 | 34,077
| 151,796
| 0.224492
| 0.224492
| 34,077
|
1
| 828,856
|
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
| 152,040
| 0.000007
| 0.000007
| 1
|
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