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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