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 | 970,279 | C | T | Rare | gnomAD | downstream_gene_variant,splice_region_variant&non_coding_transcript_exon_variant,splice_region_variant&synonymous_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,084 | 0.000007 | 0.000007 | 1 |
1 | 970,328 | A | C | Rare | gnomAD | downstream_gene_variant,missense_variant,non_coding_transcript_exon_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 151,830 | 0.000007 | 0.000007 | 1 |
1 | 970,384 | G | A | Rare | gnomAD | downstream_gene_variant,non_coding_transcript_exon_variant,synonymous_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,106 | 0.000007 | 0.000007 | 1 |
1 | 970,892 | A | C | Common | gnomAD | downstream_gene_variant,non_coding_transcript_exon_variant,synonymous_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 19,804 | 151,374 | 0.130828 | 0.130828 | 19,804 |
1 | 970,993 | C | T | Rare | gnomAD | downstream_gene_variant,missense_variant,non_coding_transcript_exon_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,150 | 0.000007 | 0.000007 | 1 |
1 | 971,214 | T | C | Rare | gnomAD | downstream_gene_variant,regulatory_region_variant,splice_region_variant&intron_variant,splice_region_variant&intron_variant&non_coding_transcript_variant,synonymous_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 151,484 | 0.000007 | 0.000007 | 1 |
1 | 971,594 | G | A | 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 | 9,219 | 152,150 | 0.060592 | 0.060592 | 9,219 |
1 | 971,643 | G | A | 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 | 10,663 | 152,148 | 0.070083 | 0.070083 | 10,663 |
1 | 972,242 | G | C | Common | gnomAD | downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 12,616 | 152,156 | 0.082915 | 0.082915 | 12,616 |
1 | 972,277 | C | T | Rare | gnomAD | downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,224 | 0.000007 | 0.000007 | 1 |
1 | 972,417 | G | T | Rare | gnomAD | downstream_gene_variant,missense_variant,non_coding_transcript_exon_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,236 | 0.000007 | 0.000007 | 1 |
1 | 973,034 | C | T | Common | gnomAD | downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 20,272 | 152,084 | 0.133295 | 0.133295 | 20,272 |
1 | 973,443 | G | A | Common | gnomAD | downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 21,343 | 152,076 | 0.140344 | 0.140344 | 21,343 |
1 | 973,693 | C | T | Common | gnomAD | downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant | null | null | null | null | null | null | null | null | null | 54,916 | 151,912 | 0.361499 | 0.361499 | 54,916 |
1 | 973,775 | T | C | Rare | gnomAD | downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant | null | null | null | null | null | null | null | null | null | 1 | 151,862 | 0.000007 | 0.000007 | 1 |
1 | 973,858 | G | C | Common | gnomAD | downstream_gene_variant,missense_variant,non_coding_transcript_exon_variant | null | null | null | null | null | null | null | null | null | 101,892 | 151,984 | 0.670413 | 0.329587 | 50,092 |
1 | 973,929 | T | C | Common | gnomAD | downstream_gene_variant,missense_variant,non_coding_transcript_exon_variant,synonymous_variant | null | null | null | null | null | null | null | null | null | 32,685 | 151,974 | 0.21507 | 0.21507 | 32,685 |
1 | 973,946 | C | T | Common | gnomAD | downstream_gene_variant,missense_variant,non_coding_transcript_exon_variant,synonymous_variant | null | null | null | null | null | null | null | null | null | 8,707 | 152,168 | 0.05722 | 0.05722 | 8,707 |
1 | 974,039 | C | T | Common | gnomAD | downstream_gene_variant,missense_variant,synonymous_variant | null | null | null | null | null | null | null | null | null | 22,019 | 152,182 | 0.144689 | 0.144689 | 22,019 |
1 | 974,804 | T | G | Rare | gnomAD | 3_prime_UTR_variant,downstream_gene_variant,intron_variant | null | null | null | null | null | null | null | null | null | 1 | 152,098 | 0.000007 | 0.000007 | 1 |
1 | 975,014 | C | T | Common | gnomAD | 3_prime_UTR_variant,downstream_gene_variant,intron_variant | null | null | null | null | null | null | null | null | null | 60,394 | 151,400 | 0.398904 | 0.398904 | 60,394 |
1 | 975,093 | G | A | Common | gnomAD | 3_prime_UTR_variant,downstream_gene_variant,intron_variant | null | null | null | null | null | null | null | null | null | 22,889 | 150,830 | 0.151754 | 0.151754 | 22,889 |
1 | 975,523 | T | C | Common | gnomAD | 3_prime_UTR_variant,downstream_gene_variant,intron_variant,non_coding_transcript_exon_variant | null | null | null | null | null | null | null | null | null | 139,411 | 152,200 | 0.915972 | 0.084028 | 12,789 |
1 | 975,602 | G | A | Rare | gnomAD | 3_prime_UTR_variant,downstream_gene_variant,intron_variant,non_coding_transcript_exon_variant,regulatory_region_variant | null | null | null | null | null | null | null | null | null | 1 | 152,252 | 0.000007 | 0.000007 | 1 |
1 | 975,748 | C | T | Rare | gnomAD | 3_prime_UTR_variant,downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | null | null | null | null | null | null | null | null | null | 1 | 152,240 | 0.000007 | 0.000007 | 1 |
1 | 976,031 | G | A | Rare | gnomAD | 3_prime_UTR_variant,TF_binding_site_variant,downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | null | null | null | null | null | null | null | null | null | 1 | 152,190 | 0.000007 | 0.000007 | 1 |
1 | 976,042 | G | A | Rare | gnomAD | 3_prime_UTR_variant,TF_binding_site_variant,downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | null | null | null | null | null | null | null | null | null | 1 | 152,196 | 0.000007 | 0.000007 | 1 |
1 | 976,095 | G | A | Rare | gnomAD | 3_prime_UTR_variant,downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant | null | null | null | null | null | null | null | null | null | 1 | 152,204 | 0.000007 | 0.000007 | 1 |
1 | 976,215 | A | G | Pathogenic | ClinVar | missense_variant | 1320032 | no_assertion_criteria_provided | null | null | null | null | null | null | null | null | null | null | null | null |
1 | 976,215 | A | G | Common | gnomAD | TF_binding_site_variant,downstream_gene_variant,missense_variant,non_coding_transcript_exon_variant,regulatory_region_variant | null | null | null | null | null | null | null | null | null | 108,731 | 152,134 | 0.714705 | 0.285295 | 43,403 |
1 | 976,430 | C | T | Rare | gnomAD | TF_binding_site_variant,downstream_gene_variant,intron_variant,intron_variant&non_coding_transcript_variant,regulatory_region_variant | null | null | null | null | null | null | null | null | null | 1 | 151,996 | 0.000007 | 0.000007 | 1 |
1 | 976,536 | C | T | Common | gnomAD | TF_binding_site_variant,downstream_gene_variant,non_coding_transcript_exon_variant,regulatory_region_variant,synonymous_variant | null | null | null | null | null | null | null | null | null | 26,680 | 151,958 | 0.175575 | 0.175575 | 26,680 |
1 | 978,202 | C | T | Rare | gnomAD | downstream_gene_variant,intron_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 143,882 | 0.000007 | 0.000007 | 1 |
1 | 978,441 | C | A | Rare | gnomAD | downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,216 | 0.000007 | 0.000007 | 1 |
1 | 978,509 | G | A | Common | gnomAD | downstream_gene_variant,intron_variant,regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 77,365 | 151,976 | 0.509061 | 0.490939 | 74,611 |
1 | 978,589 | 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 | 152,250 | 0.000007 | 0.000007 | 1 |
1 | 978,742 | G | A | Rare | gnomAD | downstream_gene_variant,intron_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,210 | 0.000007 | 0.000007 | 1 |
1 | 978,953 | C | G | Common | gnomAD | downstream_gene_variant,missense_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 80,748 | 151,996 | 0.531251 | 0.468749 | 71,248 |
1 | 979,084 | C | G | Rare | gnomAD | downstream_gene_variant,missense_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,190 | 0.000007 | 0.000007 | 1 |
1 | 979,159 | C | A | Rare | gnomAD | downstream_gene_variant,missense_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,146 | 0.000007 | 0.000007 | 1 |
1 | 979,560 | T | C | Common | gnomAD | downstream_gene_variant,synonymous_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 74,938 | 152,060 | 0.492819 | 0.492819 | 74,938 |
1 | 979,847 | A | G | Common | gnomAD | downstream_gene_variant,synonymous_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 139,750 | 152,222 | 0.918067 | 0.081933 | 12,472 |
1 | 980,243 | C | T | Rare | gnomAD | downstream_gene_variant,missense_variant,regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,232 | 0.000007 | 0.000007 | 1 |
1 | 981,169 | A | G | Common | gnomAD | 5_prime_UTR_variant,intron_variant,regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 109,665 | 151,874 | 0.722079 | 0.277921 | 42,209 |
1 | 981,210 | G | A | Common | gnomAD | intron_variant,regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 19,344 | 152,064 | 0.12721 | 0.12721 | 19,344 |
1 | 981,282 | A | C | Common | gnomAD | intron_variant,regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 28,220 | 152,026 | 0.185626 | 0.185626 | 28,220 |
1 | 981,454 | G | A | Common | gnomAD | intron_variant,regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 79,832 | 151,952 | 0.525376 | 0.474624 | 72,120 |
1 | 981,576 | G | C | Rare | gnomAD | intron_variant,regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,264 | 0.000007 | 0.000007 | 1 |
1 | 981,617 | G | T | Rare | gnomAD | intron_variant,regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,204 | 0.000007 | 0.000007 | 1 |
1 | 981,680 | C | G | Common | gnomAD | intron_variant,regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 140,226 | 152,228 | 0.921158 | 0.078842 | 12,002 |
1 | 981,935 | G | A | Common | gnomAD | intron_variant,regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 28,854 | 152,138 | 0.189657 | 0.189657 | 28,854 |
1 | 982,260 | G | A | Common | gnomAD | regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 28,572 | 152,108 | 0.18784 | 0.18784 | 28,572 |
1 | 982,294 | G | T | Rare | gnomAD | regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,236 | 0.000007 | 0.000007 | 1 |
1 | 982,485 | A | G | Rare | gnomAD | regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,124 | 0.000007 | 0.000007 | 1 |
1 | 982,500 | A | T | Rare | gnomAD | regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,184 | 0.000007 | 0.000007 | 1 |
1 | 982,669 | G | A | Rare | gnomAD | upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,250 | 0.000007 | 0.000007 | 1 |
1 | 982,890 | C | T | Common | gnomAD | upstream_gene_variant | null | null | null | null | null | null | null | null | null | 26,975 | 152,178 | 0.17726 | 0.17726 | 26,975 |
1 | 983,193 | A | G | Common | gnomAD | regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 78,918 | 151,948 | 0.519375 | 0.480625 | 73,030 |
1 | 983,237 | G | A | Common | gnomAD | regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 26,909 | 152,098 | 0.176919 | 0.176919 | 26,909 |
1 | 984,039 | T | C | Common | gnomAD | regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 118,262 | 151,994 | 0.77807 | 0.22193 | 33,732 |
1 | 984,109 | C | T | Common | gnomAD | regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 12,255 | 152,122 | 0.08056 | 0.08056 | 12,255 |
1 | 984,121 | G | T | Common | gnomAD | regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 74,244 | 151,412 | 0.490344 | 0.490344 | 74,244 |
1 | 984,180 | C | G | Rare | gnomAD | regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 151,784 | 0.000007 | 0.000007 | 1 |
1 | 985,123 | G | A | Common | gnomAD | regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 18,639 | 152,046 | 0.122588 | 0.122588 | 18,639 |
1 | 985,312 | G | A | Common | gnomAD | regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 11,798 | 152,102 | 0.077566 | 0.077566 | 11,798 |
1 | 985,597 | T | C | Common | gnomAD | regulatory_region_variant,upstream_gene_variant | null | null | null | null | null | null | null | null | null | 24,468 | 152,080 | 0.160889 | 0.160889 | 24,468 |
1 | 985,970 | A | G | Rare | gnomAD | upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,036 | 0.000007 | 0.000007 | 1 |
1 | 986,195 | T | C | Rare | gnomAD | upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,086 | 0.000007 | 0.000007 | 1 |
1 | 986,240 | C | T | Rare | gnomAD | upstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,166 | 0.000007 | 0.000007 | 1 |
1 | 986,336 | C | A | Common | gnomAD | upstream_gene_variant | null | null | null | null | null | null | null | null | null | 65,662 | 151,912 | 0.432237 | 0.432237 | 65,662 |
1 | 986,629 | G | A | Common | gnomAD | upstream_gene_variant | null | null | null | null | null | null | null | null | null | 26,962 | 152,016 | 0.177363 | 0.177363 | 26,962 |
1 | 987,103 | T | C | Common | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 22,549 | 141,126 | 0.159779 | 0.159779 | 22,549 |
1 | 988,369 | T | C | Common | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 136,098 | 151,876 | 0.896113 | 0.103887 | 15,778 |
1 | 988,731 | T | A | Common | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 35,973 | 151,642 | 0.237223 | 0.237223 | 35,973 |
1 | 989,474 | A | G | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,180 | 0.000007 | 0.000007 | 1 |
1 | 989,486 | T | C | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,240 | 0.000007 | 0.000007 | 1 |
1 | 989,518 | C | A | Common | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 136,302 | 152,108 | 0.896087 | 0.103913 | 15,806 |
1 | 990,213 | G | A | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 151,750 | 0.000007 | 0.000007 | 1 |
1 | 990,641 | C | T | Rare | gnomAD | intergenic_variant | null | null | null | null | null | null | null | null | null | 1 | 152,200 | 0.000007 | 0.000007 | 1 |
1 | 990,971 | C | T | Common | gnomAD | downstream_gene_variant | null | null | null | null | null | null | null | null | null | 136,296 | 152,094 | 0.89613 | 0.10387 | 15,798 |
1 | 991,241 | A | C | Common | gnomAD | downstream_gene_variant | null | null | null | null | null | null | null | null | null | 136,413 | 152,166 | 0.896475 | 0.103525 | 15,753 |
1 | 991,588 | C | T | Common | gnomAD | downstream_gene_variant | null | null | null | null | null | null | null | null | null | 24,806 | 150,892 | 0.164396 | 0.164396 | 24,806 |
1 | 992,206 | C | T | Rare | gnomAD | downstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,220 | 0.000007 | 0.000007 | 1 |
1 | 992,361 | G | A | Common | gnomAD | downstream_gene_variant | null | null | null | null | null | null | null | null | null | 27,340 | 151,966 | 0.179909 | 0.179909 | 27,340 |
1 | 992,573 | C | A | Rare | gnomAD | downstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,210 | 0.000007 | 0.000007 | 1 |
1 | 992,649 | G | A | Rare | gnomAD | downstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,086 | 0.000007 | 0.000007 | 1 |
1 | 993,140 | A | G | Common | gnomAD | downstream_gene_variant | null | null | null | null | null | null | null | null | null | 139,619 | 149,778 | 0.932173 | 0.067827 | 10,159 |
1 | 993,198 | G | A | Common | gnomAD | downstream_gene_variant | null | null | null | null | null | null | null | null | null | 135,370 | 150,604 | 0.898847 | 0.101153 | 15,234 |
1 | 993,456 | C | T | Common | gnomAD | downstream_gene_variant | null | null | null | null | null | null | null | null | null | 136,232 | 152,196 | 0.895109 | 0.104891 | 15,964 |
1 | 993,662 | C | T | Rare | gnomAD | downstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 152,224 | 0.000007 | 0.000007 | 1 |
1 | 993,810 | A | G | Common | gnomAD | downstream_gene_variant | null | null | null | null | null | null | null | null | null | 141,618 | 152,234 | 0.930265 | 0.069735 | 10,616 |
1 | 993,936 | C | T | Common | gnomAD | downstream_gene_variant | null | null | null | null | null | null | null | null | null | 136,023 | 151,854 | 0.895749 | 0.104251 | 15,831 |
1 | 994,396 | C | G | Rare | gnomAD | downstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 151,846 | 0.000007 | 0.000007 | 1 |
1 | 994,574 | G | T | Rare | gnomAD | downstream_gene_variant | null | null | null | null | null | null | null | null | null | 1 | 151,852 | 0.000007 | 0.000007 | 1 |
1 | 994,997 | C | T | Common | gnomAD | downstream_gene_variant | null | null | null | null | null | null | null | null | null | 34,703 | 152,024 | 0.228273 | 0.228273 | 34,703 |
1 | 995,187 | A | G | Common | gnomAD | downstream_gene_variant | null | null | null | null | null | null | null | null | null | 61,687 | 151,920 | 0.406049 | 0.406049 | 61,687 |
1 | 995,371 | C | G | Common | gnomAD | downstream_gene_variant | null | null | null | null | null | null | null | null | null | 53,123 | 151,922 | 0.349673 | 0.349673 | 53,123 |
1 | 995,543 | A | G | Common | gnomAD | downstream_gene_variant | null | null | null | null | null | null | null | null | null | 115,526 | 151,974 | 0.76017 | 0.23983 | 36,448 |
1 | 995,786 | A | G | Common | gnomAD | downstream_gene_variant | null | null | null | null | null | null | null | null | null | 63,936 | 151,890 | 0.420936 | 0.420936 | 63,936 |
1 | 995,982 | G | A | Common | gnomAD | downstream_gene_variant,non_coding_transcript_exon_variant | null | null | null | null | null | null | null | null | null | 56,466 | 151,792 | 0.371996 | 0.371996 | 56,466 |