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 |
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