chrom stringclasses 24 values | pos int64 45.7k 248M | ref stringclasses 4 values | alt stringclasses 4 values | label stringclasses 2 values | id stringlengths 1 7 | review_status stringclasses 5 values | consequence stringclasses 77 values |
|---|---|---|---|---|---|---|---|
1 | 11,212,805 | G | C | Benign | 1008250 | criteria_provided,_single_submitter | missense_variant |
1 | 11,213,413 | T | C | Benign | 955102 | criteria_provided,_single_submitter | missense_variant |
1 | 11,213,452 | T | C | Benign | 1165203 | criteria_provided,_single_submitter | missense_variant |
1 | 11,213,542 | T | C | Benign | 240078 | criteria_provided,_single_submitter | missense_variant |
1 | 11,228,672 | C | T | Pathogenic | 801436 | criteria_provided,_single_submitter | missense_variant |
1 | 11,228,844 | T | C | Benign | 697271 | criteria_provided,_single_submitter | missense_variant |
1 | 11,231,317 | G | C | Benign | 1626505 | criteria_provided,_single_submitter | missense_variant |
1 | 11,237,890 | T | A | Benign | 651574 | criteria_provided,_single_submitter | missense_variant |
1 | 11,238,419 | A | G | Benign | 965785 | criteria_provided,_single_submitter | missense_variant |
1 | 11,238,477 | C | T | Benign | 833918 | criteria_provided,_single_submitter | missense_variant |
1 | 11,238,521 | C | T | Benign | 1045336 | criteria_provided,_single_submitter | missense_variant |
1 | 11,240,405 | C | G | Benign | 2102583 | criteria_provided,_single_submitter | missense_variant |
1 | 11,243,121 | C | T | Benign | 1169177 | criteria_provided,_single_submitter | missense_variant |
1 | 11,243,144 | G | A | Benign | 762322 | criteria_provided,_single_submitter | missense_variant |
1 | 11,243,199 | C | T | Benign | 1166189 | criteria_provided,_single_submitter | missense_variant |
1 | 11,247,702 | C | T | Benign | 702867 | criteria_provided,_single_submitter | missense_variant |
1 | 11,247,889 | G | A | Benign | 2045581 | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant |
1 | 11,247,904 | C | T | Benign | 1043002 | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant |
1 | 11,247,906 | C | A | Benign | 1395602 | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant |
1 | 11,248,016 | C | T | Benign | 1598761 | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant |
1 | 11,248,042 | T | C | Benign | 1164362 | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant |
1 | 11,253,859 | T | C | Benign | 959512 | criteria_provided,_single_submitter | missense_variant |
1 | 11,256,044 | A | C | Benign | 2107102 | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant |
1 | 11,257,165 | G | A | Benign | 2080014 | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant |
1 | 11,258,571 | C | T | Benign | 1566210 | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant |
1 | 11,259,260 | C | T | Benign | 951958 | criteria_provided,_single_submitter | missense_variant |
1 | 11,259,298 | C | T | Benign | 652978 | criteria_provided,_single_submitter | missense_variant |
1 | 11,259,312 | T | A | Benign | 1652243 | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant |
1 | 11,259,360 | C | T | Benign | 1392583 | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant |
1 | 11,259,375 | G | A | Benign | 2046704 | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant |
1 | 11,259,385 | C | T | Benign | 1595292 | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant |
1 | 11,259,388 | C | T | Benign | 1168647 | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant |
1 | 11,273,755 | C | T | Benign | 291821 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 11,273,836 | A | G | Pathogenic | 856 | no_assertion_criteria_provided | missense_variant |
1 | 11,273,866 | A | G | Pathogenic | 861 | no_assertion_criteria_provided | missense_variant |
1 | 11,273,886 | A | G | Pathogenic | 858 | no_assertion_criteria_provided | missense_variant |
1 | 11,273,983 | A | G | Benign | 291825 | criteria_provided,_single_submitter | missense_variant |
1 | 11,274,042 | T | C | Pathogenic | 862 | no_assertion_criteria_provided | missense_variant |
1 | 11,274,055 | C | T | Pathogenic | 859 | no_assertion_criteria_provided | missense_variant |
1 | 11,274,060 | G | C | Pathogenic | 857 | no_assertion_criteria_provided | missense_variant |
1 | 11,285,644 | G | A | Pathogenic | 41408 | no_assertion_criteria_provided | intron_variant,missense_variant |
1 | 11,285,670 | G | A | Pathogenic | 863 | no_assertion_criteria_provided | intron_variant,missense_variant |
1 | 11,285,809 | A | G | Pathogenic | 860 | no_assertion_criteria_provided | intron_variant,missense_variant |
1 | 11,285,822 | C | G | Pathogenic | 864 | no_assertion_criteria_provided | intron_variant,missense_variant |
1 | 11,501,143 | C | G | Benign | 721203 | criteria_provided,_single_submitter | missense_variant |
1 | 11,501,635 | G | T | Benign | 725514 | criteria_provided,_single_submitter | missense_variant |
1 | 11,524,052 | C | G | Benign | 775510 | criteria_provided,_single_submitter | missense_variant |
1 | 11,671,308 | G | A | Benign | 787735 | criteria_provided,_single_submitter | missense_variant |
1 | 11,676,926 | A | T | Pathogenic | 372196 | no_assertion_criteria_provided | missense_variant |
1 | 11,711,872 | G | A | Benign | 791147 | criteria_provided,_single_submitter | missense_variant |
1 | 11,790,693 | G | A | Benign | 281891 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 11,790,719 | G | T | Benign | 534628 | criteria_provided,_single_submitter | missense_variant |
1 | 11,790,768 | A | G | Pathogenic | 187905 | no_assertion_criteria_provided | missense_variant |
1 | 11,790,843 | G | C | Pathogenic | 187904 | no_assertion_criteria_provided | missense_variant |
1 | 11,791,235 | A | C | Pathogenic | 187899 | no_assertion_criteria_provided | missense_variant |
1 | 11,791,244 | G | A | Pathogenic | 2202701 | criteria_provided,_single_submitter | missense_variant |
1 | 11,794,441 | C | T | Benign | 697100 | criteria_provided,_single_submitter | missense_variant |
1 | 11,794,765 | C | T | Pathogenic | 654511 | criteria_provided,_single_submitter | missense_variant |
1 | 11,794,781 | T | C | Pathogenic | 187890 | no_assertion_criteria_provided | missense_variant |
1 | 11,794,826 | G | A | Pathogenic | 1452549 | criteria_provided,_single_submitter | missense_variant |
1 | 11,794,853 | G | A | Pathogenic | 187887 | no_assertion_criteria_provided | missense_variant |
1 | 11,795,114 | A | C | Pathogenic | 3523 | criteria_provided,_single_submitter | missense_variant |
1 | 11,795,116 | A | G | Pathogenic | 657146 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 11,796,217 | A | C | Pathogenic | 187884 | no_assertion_criteria_provided | missense_variant |
1 | 11,796,222 | C | A | Pathogenic | 187882 | no_assertion_criteria_provided | missense_variant |
1 | 11,796,313 | T | G | Pathogenic | 187879 | no_assertion_criteria_provided | missense_variant |
1 | 11,796,382 | G | T | Pathogenic | 222894 | no_assertion_criteria_provided | missense_variant |
1 | 11,796,399 | C | T | Pathogenic | 187877 | no_assertion_criteria_provided | missense_variant |
1 | 11,800,275 | C | T | Pathogenic | 1445597 | criteria_provided,_single_submitter | missense_variant |
1 | 11,801,196 | T | G | Pathogenic | 187875 | no_assertion_criteria_provided | missense_variant |
1 | 11,801,248 | A | G | Pathogenic | 187874 | no_assertion_criteria_provided | missense_variant |
1 | 11,801,392 | G | A | Pathogenic | 187870 | no_assertion_criteria_provided | missense_variant |
1 | 11,802,941 | C | G | Pathogenic | 187868 | no_assertion_criteria_provided | missense_variant |
1 | 11,803,115 | A | G | Pathogenic | 1961719 | criteria_provided,_single_submitter | initiatior_codon_variant,missense_variant |
1 | 11,803,115 | A | T | Pathogenic | 2158563 | criteria_provided,_single_submitter | initiatior_codon_variant,missense_variant |
1 | 11,824,498 | A | G | Benign | 1643105 | criteria_provided,_single_submitter | missense_variant,non-coding_transcript_variant |
1 | 11,847,591 | C | T | Benign | 1169995 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant,non-coding_transcript_variant |
1 | 11,858,322 | C | A | Benign | 787694 | criteria_provided,_single_submitter | missense_variant |
1 | 11,858,387 | C | T | Benign | 722224 | criteria_provided,_single_submitter | missense_variant |
1 | 11,858,760 | C | A | Benign | 710871 | criteria_provided,_single_submitter | missense_variant |
1 | 11,944,569 | C | T | Benign | 811539 | criteria_provided,_single_submitter | intron_variant,missense_variant |
1 | 11,949,854 | G | A | Benign | 263938 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 11,952,665 | A | T | Benign | 514191 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 11,957,902 | A | G | Benign | 440170 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 11,970,750 | G | C | Pathogenic | 14372 | no_assertion_criteria_provided | missense_variant |
1 | 11,992,584 | G | T | Pathogenic | 2273 | no_assertion_criteria_provided | missense_variant |
1 | 11,992,606 | T | C | Pathogenic | 2270 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 11,992,641 | A | T | Pathogenic | 653992 | criteria_provided,_single_submitter | missense_variant |
1 | 11,992,654 | T | C | Pathogenic | 637730 | criteria_provided,_single_submitter | missense_variant |
1 | 11,992,659 | C | G | Pathogenic | 637495 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 11,992,659 | C | T | Pathogenic | 2276 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 11,992,660 | G | A | Pathogenic | 2268 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 11,992,664 | G | C | Pathogenic | 476770 | criteria_provided,_single_submitter | missense_variant |
1 | 11,992,664 | G | T | Pathogenic | 1455514 | criteria_provided,_single_submitter | missense_variant |
1 | 11,992,689 | C | T | Pathogenic | 2281 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 11,996,157 | A | G | Pathogenic | 543234 | criteria_provided,_single_submitter | missense_variant |
1 | 11,996,162 | C | G | Pathogenic | 476771 | criteria_provided,_single_submitter | missense_variant |
1 | 11,996,170 | A | G | Pathogenic | 476772 | criteria_provided,_single_submitter | missense_variant |
1 | 11,997,315 | C | G | Pathogenic | 2275 | criteria_provided,_single_submitter | missense_variant |
1 | 11,997,315 | C | T | Pathogenic | 439897 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
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