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 | 863,421 | G | A | Common | gnomAD | downstream_gene_variant,intron_variant&non_coding_transcript_variant | null | null | null | null | null | null | null | null | null | 10,602 | 150,318 | 0.07053 | 0.07053 | 10,602 |
1 | 863,579 | G | A | Common | gnomAD | downstream_gene_variant,intron_variant&non_coding_transcript_variant | null | null | null | null | null | null | null | null | null | 55,138 | 151,766 | 0.363309 | 0.363309 | 55,138 |
1 | 864,119 | T | C | Common | gnomAD | downstream_gene_variant,intron_variant&non_coding_transcript_variant | null | null | null | null | null | null | null | null | null | 10,688 | 149,392 | 0.071543 | 0.071543 | 10,688 |
1 | 864,190 | G | A | Rare | gnomAD | downstream_gene_variant,intron_variant&non_coding_transcript_variant | null | null | null | null | null | null | null | null | null | 1 | 152,178 | 0.000007 | 0.000007 | 1 |
1 | 865,003 | C | T | Common | gnomAD | downstream_gene_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant | null | null | null | null | null | null | null | null | null | 134,207 | 152,044 | 0.882685 | 0.117315 | 17,837 |
1 | 865,125 | C | T | Rare | gnomAD | downstream_gene_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant | null | null | null | null | null | null | null | null | null | 1 | 152,176 | 0.000007 | 0.000007 | 1 |
1 | 865,372 | T | A | Rare | gnomAD | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | null | null | null | null | null | null | null | null | null | 1 | 152,132 | 0.000007 | 0.000007 | 1 |
1 | 865,858 | T | G | 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 | 152,116 | 0.000007 | 0.000007 | 1 |
1 | 865,875 | 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 | 152,112 | 0.000007 | 0.000007 | 1 |
1 | 866,281 | 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 | 10,365 | 152,124 | 0.068135 | 0.068135 | 10,365 |
1 | 866,300 | A | 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 | 10,367 | 152,100 | 0.068159 | 0.068159 | 10,367 |
1 | 866,420 | G | A | 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 | 152,048 | 0.000007 | 0.000007 | 1 |
1 | 866,478 | 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 | 10,326 | 152,008 | 0.067931 | 0.067931 | 10,326 |
1 | 866,546 | 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 | 151,786 | 0.000007 | 0.000007 | 1 |
1 | 867,116 | C | T | Common | gnomAD | downstream_gene_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant | null | null | null | null | null | null | null | null | null | 26,159 | 146,180 | 0.178951 | 0.178951 | 26,159 |
1 | 867,376 | G | A | Rare | gnomAD | downstream_gene_variant,intron_variant&non_coding_transcript_variant | null | null | null | null | null | null | null | null | null | 1 | 152,226 | 0.000007 | 0.000007 | 1 |
1 | 867,476 | C | T | Common | gnomAD | downstream_gene_variant,non_coding_transcript_exon_variant | null | null | null | null | null | null | null | null | null | 10,363 | 152,128 | 0.06812 | 0.06812 | 10,363 |
1 | 868,216 | T | C | Common | gnomAD | downstream_gene_variant,non_coding_transcript_exon_variant | null | null | null | null | null | null | null | null | null | 10,114 | 151,948 | 0.066562 | 0.066562 | 10,114 |
1 | 868,788 | 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 | 8,217 | 148,396 | 0.055372 | 0.055372 | 8,217 |
1 | 868,800 | A | T | Common | gnomAD | downstream_gene_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 8,903 | 149,484 | 0.059558 | 0.059558 | 8,903 |
1 | 868,808 | 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 | 9,221 | 149,894 | 0.061517 | 0.061517 | 9,221 |
1 | 869,085 | C | T | 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 | 152,118 | 0.000007 | 0.000007 | 1 |
1 | 869,379 | C | 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 | 28,154 | 151,850 | 0.185407 | 0.185407 | 28,154 |
1 | 869,967 | T | C | Rare | gnomAD | TF_binding_site_variant,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 | 152,142 | 0.000007 | 0.000007 | 1 |
1 | 870,161 | C | A | 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 | 152,218 | 0.000007 | 0.000007 | 1 |
1 | 870,176 | T | 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 | 15,117 | 151,952 | 0.099485 | 0.099485 | 15,117 |
1 | 871,350 | 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 | 152,198 | 0.000007 | 0.000007 | 1 |
1 | 871,467 | 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 | 152,138 | 0.000007 | 0.000007 | 1 |
1 | 872,178 | 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 | 152,112 | 0.000007 | 0.000007 | 1 |
1 | 872,617 | 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 | 19,319 | 145,678 | 0.132614 | 0.132614 | 19,319 |
1 | 873,251 | 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 | 85,748 | 152,034 | 0.564005 | 0.435995 | 66,286 |
1 | 873,548 | 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 | 85,630 | 151,788 | 0.564142 | 0.435858 | 66,158 |
1 | 874,412 | 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 | 152,204 | 0.000007 | 0.000007 | 1 |
1 | 874,496 | 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 | 16,410 | 152,044 | 0.107929 | 0.107929 | 16,410 |
1 | 874,626 | 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 | 874,906 | 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 | 38,983 | 151,860 | 0.256704 | 0.256704 | 38,983 |
1 | 875,382 | G | C | Rare | gnomAD | downstream_gene_variant,intron_variant&non_coding_transcript_variant | null | null | null | null | null | null | null | null | null | 1 | 152,096 | 0.000007 | 0.000007 | 1 |
1 | 875,400 | G | C | Common | gnomAD | downstream_gene_variant,intron_variant&non_coding_transcript_variant | null | null | null | null | null | null | null | null | null | 24,067 | 151,890 | 0.15845 | 0.15845 | 24,067 |
1 | 875,447 | C | G | Rare | gnomAD | downstream_gene_variant,intron_variant&non_coding_transcript_variant | null | null | null | null | null | null | null | null | null | 1 | 152,078 | 0.000007 | 0.000007 | 1 |
1 | 875,802 | T | C | Rare | gnomAD | downstream_gene_variant,intron_variant&non_coding_transcript_variant | null | null | null | null | null | null | null | null | null | 1 | 151,260 | 0.000007 | 0.000007 | 1 |
1 | 876,624 | G | T | Rare | gnomAD | downstream_gene_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant | null | null | null | null | null | null | null | null | null | 1 | 151,262 | 0.000007 | 0.000007 | 1 |
1 | 877,023 | C | A | Rare | gnomAD | downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,168 | 0.000007 | 0.000007 | 1 |
1 | 877,363 | C | T | Common | gnomAD | downstream_gene_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 30,257 | 151,954 | 0.199119 | 0.199119 | 30,257 |
1 | 877,371 | T | C | Common | gnomAD | downstream_gene_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 140,757 | 152,064 | 0.925643 | 0.074357 | 11,307 |
1 | 877,475 | C | A | Rare | gnomAD | downstream_gene_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,228 | 0.000007 | 0.000007 | 1 |
1 | 877,664 | G | C | Rare | gnomAD | downstream_gene_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,224 | 0.000007 | 0.000007 | 1 |
1 | 878,260 | A | G | Common | gnomAD | downstream_gene_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 110,060 | 151,822 | 0.724928 | 0.275072 | 41,762 |
1 | 878,367 | G | A | Common | gnomAD | downstream_gene_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 111,936 | 151,878 | 0.737013 | 0.262987 | 39,942 |
1 | 878,777 | A | G | Common | gnomAD | downstream_gene_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 15,762 | 147,418 | 0.10692 | 0.10692 | 15,762 |
1 | 878,884 | C | T | Common | gnomAD | downstream_gene_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 132,074 | 145,230 | 0.909413 | 0.090587 | 13,156 |
1 | 878,943 | G | A | Rare | gnomAD | downstream_gene_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,294 | 0.000007 | 0.000007 | 1 |
1 | 880,155 | C | T | Rare | gnomAD | upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,280 | 0.000007 | 0.000007 | 1 |
1 | 880,321 | T | C | Rare | gnomAD | upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,116 | 0.000007 | 0.000007 | 1 |
1 | 881,219 | T | C | Rare | gnomAD | upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,052 | 0.000007 | 0.000007 | 1 |
1 | 882,140 | C | T | Rare | gnomAD | regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,222 | 0.000007 | 0.000007 | 1 |
1 | 882,718 | T | C | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 149,900 | 0.000007 | 0.000007 | 1 |
1 | 883,473 | T | C | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,146 | 0.000007 | 0.000007 | 1 |
1 | 883,557 | C | T | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,188 | 0.000007 | 0.000007 | 1 |
1 | 883,687 | C | T | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,160 | 0.000007 | 0.000007 | 1 |
1 | 883,693 | G | C | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,114 | 0.000007 | 0.000007 | 1 |
1 | 883,889 | C | T | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,148 | 0.000007 | 0.000007 | 1 |
1 | 884,223 | G | A | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,198 | 0.000007 | 0.000007 | 1 |
1 | 884,904 | A | G | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,238 | 0.000007 | 0.000007 | 1 |
1 | 886,452 | A | T | Rare | gnomAD | intergenic_variant,regulatory_region_variant | null | null | null | null | null | null | null | null | null | 1 | 152,078 | 0.000007 | 0.000007 | 1 |
1 | 886,546 | C | G | Common | gnomAD | intergenic_variant,regulatory_region_variant | null | null | null | null | null | null | null | null | null | 10,782 | 152,108 | 0.070884 | 0.070884 | 10,782 |
1 | 887,637 | T | A | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,212 | 0.000007 | 0.000007 | 1 |
1 | 888,027 | A | G | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,224 | 0.000007 | 0.000007 | 1 |
1 | 888,078 | C | G | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,204 | 0.000007 | 0.000007 | 1 |
1 | 888,125 | T | C | Common | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 123,678 | 141,820 | 0.872077 | 0.127923 | 18,142 |
1 | 888,369 | A | G | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 151,732 | 0.000007 | 0.000007 | 1 |
1 | 888,408 | G | A | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 150,940 | 0.000007 | 0.000007 | 1 |
1 | 888,877 | A | G | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,144 | 0.000007 | 0.000007 | 1 |
1 | 889,018 | A | C | Common | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 27,022 | 151,942 | 0.177844 | 0.177844 | 27,022 |
1 | 890,319 | C | T | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 141,298 | 0.000007 | 0.000007 | 1 |
1 | 890,693 | T | C | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,284 | 0.000007 | 0.000007 | 1 |
1 | 891,146 | G | A | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,204 | 0.000007 | 0.000007 | 1 |
1 | 891,676 | A | C | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,238 | 0.000007 | 0.000007 | 1 |
1 | 891,943 | C | T | Common | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 139,161 | 152,018 | 0.915424 | 0.084576 | 12,857 |
1 | 892,348 | G | A | Rare | gnomAD | intergenic_variant,regulatory_region_variant | null | null | null | null | null | null | null | null | null | 1 | 152,190 | 0.000007 | 0.000007 | 1 |
1 | 892,786 | A | G | Common | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 37,911 | 152,094 | 0.24926 | 0.24926 | 37,911 |
1 | 892,856 | A | G | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,266 | 0.000007 | 0.000007 | 1 |
1 | 893,503 | G | A | Common | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 13,942 | 152,000 | 0.091724 | 0.091724 | 13,942 |
1 | 893,710 | G | A | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 151,638 | 0.000007 | 0.000007 | 1 |
1 | 893,838 | A | T | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 143,318 | 0.000007 | 0.000007 | 1 |
1 | 893,913 | C | T | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 151,278 | 0.000007 | 0.000007 | 1 |
1 | 893,953 | G | A | Common | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 138,590 | 151,514 | 0.914701 | 0.085299 | 12,924 |
1 | 894,115 | C | T | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,130 | 0.000007 | 0.000007 | 1 |
1 | 894,257 | C | T | Common | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 142,758 | 152,172 | 0.938136 | 0.061864 | 9,414 |
1 | 894,541 | C | T | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,190 | 0.000007 | 0.000007 | 1 |
1 | 894,801 | A | G | Common | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 101,753 | 152,010 | 0.669384 | 0.330616 | 50,257 |
1 | 894,982 | A | T | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,116 | 0.000007 | 0.000007 | 1 |
1 | 896,109 | C | T | Common | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 88,195 | 146,532 | 0.601882 | 0.398118 | 58,337 |
1 | 896,415 | A | G | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,152 | 0.000007 | 0.000007 | 1 |
1 | 896,529 | C | T | Common | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 95,448 | 151,532 | 0.629887 | 0.370113 | 56,084 |
1 | 896,686 | G | C | Common | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 97,289 | 151,566 | 0.641892 | 0.358108 | 54,277 |
1 | 896,732 | T | C | Common | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 97,289 | 151,592 | 0.641782 | 0.358218 | 54,303 |
1 | 896,798 | A | G | Common | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 97,301 | 151,666 | 0.641548 | 0.358452 | 54,365 |
1 | 896,938 | C | A | Common | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 97,406 | 151,728 | 0.641978 | 0.358022 | 54,322 |
1 | 896,979 | C | T | Common | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 11,757 | 151,962 | 0.077368 | 0.077368 | 11,757 |
1 | 897,018 | T | C | Common | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 118,997 | 151,946 | 0.783153 | 0.216847 | 32,949 |