GPN-Star
Collection
paper: https://www.biorxiv.org/content/10.1101/2025.09.21.677619v1 code: https://github.com/songlab-cal/gpn • 30 items • Updated
• 7
Datasets:
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 | 930,165 | G | A | Benign | 1164676 | criteria_provided,_single_submitter | missense_variant |
1 | 930,204 | G | A | Benign | 1170208 | criteria_provided,_single_submitter | missense_variant |
1 | 930,285 | G | A | Benign | 1165489 | criteria_provided,_single_submitter | missense_variant |
1 | 930,314 | C | T | Benign | 1170010 | criteria_provided,_single_submitter | missense_variant |
1 | 935,779 | G | A | Benign | 1167937 | criteria_provided,_single_submitter | missense_variant |
1 | 939,429 | G | C | Benign | 1167351 | criteria_provided,_single_submitter | intron_variant,missense_variant |
1 | 942,451 | T | C | Benign | 1166513 | criteria_provided,_single_submitter | missense_variant |
1 | 942,930 | T | C | Benign | 1169836 | criteria_provided,_single_submitter | missense_variant |
1 | 942,945 | C | T | Benign | 1170437 | criteria_provided,_single_submitter | missense_variant |
1 | 942,951 | C | T | Benign | 1170505 | criteria_provided,_single_submitter | missense_variant |
1 | 944,001 | C | T | Benign | 1164573 | criteria_provided,_single_submitter | missense_variant |
1 | 944,004 | G | A | Benign | 1164106 | criteria_provided,_single_submitter | missense_variant |
1 | 944,029 | C | G | Benign | 1168053 | criteria_provided,_single_submitter | missense_variant |
1 | 944,101 | G | C | Benign | 780745 | criteria_provided,_single_submitter | missense_variant |
1 | 966,542 | G | A | Benign | 782833 | criteria_provided,_single_submitter | missense_variant |
1 | 966,543 | C | A | Benign | 782834 | criteria_provided,_single_submitter | missense_variant |
1 | 972,895 | G | A | Benign | 770481 | criteria_provided,_single_submitter | missense_variant |
1 | 973,842 | G | A | Benign | 791106 | criteria_provided,_single_submitter | missense_variant |
1 | 976,215 | A | G | Pathogenic | 1320032 | no_assertion_criteria_provided | missense_variant |
1 | 1,014,042 | G | A | Benign | 475283 | criteria_provided,_single_submitter | missense_variant |
1 | 1,014,228 | G | A | Benign | 402986 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 1,020,183 | G | C | Benign | 387476 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 1,041,583 | A | G | Benign | 128291 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 1,044,368 | A | T | Benign | 128294 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 1,045,751 | A | G | Benign | 263173 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 1,047,342 | A | G | Benign | 128299 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 1,048,126 | C | T | Benign | 128304 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 1,048,900 | G | A | Benign | 703974 | criteria_provided,_single_submitter | missense_variant |
1 | 1,050,446 | G | A | Benign | 128312 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 1,050,449 | G | A | Pathogenic | 1284257 | no_assertion_criteria_provided | missense_variant |
1 | 1,050,575 | G | C | Pathogenic | 18241 | no_assertion_criteria_provided | missense_variant |
1 | 1,213,738 | G | A | Pathogenic | 96692 | no_assertion_criteria_provided | missense_variant |
1 | 1,214,100 | G | A | Benign | 474794 | criteria_provided,_single_submitter | missense_variant |
1 | 1,232,279 | A | G | Pathogenic | 60484 | criteria_provided,_multiple_submitters,_no_conflicts | initiatior_codon_variant,missense_variant |
1 | 1,232,280 | T | C | Pathogenic | 1452181 | criteria_provided,_single_submitter | initiatior_codon_variant,missense_variant |
1 | 1,232,281 | G | A | Pathogenic | 2151860 | criteria_provided,_single_submitter | initiatior_codon_variant,missense_variant |
1 | 1,232,471 | A | G | Pathogenic | 60488 | no_assertion_criteria_provided | missense_variant |
1 | 1,232,478 | C | T | Pathogenic | 60489 | criteria_provided,_single_submitter | missense_variant |
1 | 1,232,735 | C | A | Benign | 390636 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 1,232,744 | G | A | Pathogenic | 60486 | no_assertion_criteria_provided | missense_variant |
1 | 1,232,754 | C | A | Pathogenic | 869983 | no_assertion_criteria_provided | missense_variant |
1 | 1,232,800 | G | C | Benign | 281204 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 1,232,834 | T | C | Pathogenic | 522415 | criteria_provided,_single_submitter | missense_variant |
1 | 1,232,896 | C | G | Pathogenic | 869985 | no_assertion_criteria_provided | missense_variant |
1 | 1,232,897 | G | C | Pathogenic | 60495 | criteria_provided,_single_submitter | missense_variant |
1 | 1,232,927 | G | A | Pathogenic | 60496 | no_assertion_criteria_provided | missense_variant |
1 | 1,233,044 | C | T | Pathogenic | 996067 | criteria_provided,_single_submitter | missense_variant |
1 | 1,233,177 | G | C | Pathogenic | 60487 | no_assertion_criteria_provided | missense_variant |
1 | 1,233,203 | T | A | Pathogenic | 60491 | criteria_provided,_single_submitter | missense_variant |
1 | 1,242,601 | C | T | Benign | 789547 | criteria_provided,_single_submitter | missense_variant |
1 | 1,242,864 | G | C | Benign | 772646 | criteria_provided,_single_submitter | missense_variant |
1 | 1,312,290 | C | T | Pathogenic | 2506981 | no_assertion_criteria_provided | missense_variant |
1 | 1,312,841 | G | A | Pathogenic | 2506979 | no_assertion_criteria_provided | missense_variant |
1 | 1,319,313 | G | A | Pathogenic | 2506980 | no_assertion_criteria_provided | intron_variant,missense_variant |
1 | 1,320,493 | C | T | Pathogenic | 2506982 | no_assertion_criteria_provided | intron_variant,missense_variant |
1 | 1,321,072 | C | A | Pathogenic | 2506983 | no_assertion_criteria_provided | 5_prime_UTR_variant,intron_variant,missense_variant |
1 | 1,332,630 | G | T | Benign | 775486 | criteria_provided,_single_submitter | missense_variant |
1 | 1,334,108 | G | A | Benign | 1222088 | criteria_provided,_single_submitter | missense_variant |
1 | 1,336,290 | G | A | Benign | 2194805 | criteria_provided,_single_submitter | missense_variant |
1 | 1,336,404 | G | A | Benign | 1535754 | criteria_provided,_single_submitter | missense_variant |
1 | 1,338,168 | T | C | Benign | 1364784 | criteria_provided,_single_submitter | missense_variant |
1 | 1,338,617 | A | T | Benign | 1927325 | criteria_provided,_single_submitter | missense_variant |
1 | 1,340,312 | G | A | Benign | 1599156 | criteria_provided,_single_submitter | missense_variant |
1 | 1,340,424 | G | C | Benign | 599454 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 1,341,749 | G | C | Benign | 1611353 | criteria_provided,_single_submitter | missense_variant |
1 | 1,341,803 | C | A | Benign | 1041254 | criteria_provided,_single_submitter | missense_variant |
1 | 1,341,803 | C | T | Benign | 1169213 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 1,437,393 | C | T | Benign | 781924 | criteria_provided,_single_submitter | missense_variant,synonymous_variant |
1 | 1,439,425 | G | C | Benign | 1229112 | criteria_provided,_single_submitter | 3_prime_UTR_variant,missense_variant |
1 | 1,454,394 | C | T | Benign | 1253304 | criteria_provided,_single_submitter | missense_variant |
1 | 1,477,279 | G | T | Benign | 780746 | criteria_provided,_single_submitter | missense_variant |
1 | 1,495,783 | G | A | Benign | 786444 | criteria_provided,_single_submitter | missense_variant |
1 | 1,495,785 | C | T | Benign | 767642 | criteria_provided,_single_submitter | missense_variant |
1 | 1,512,287 | A | G | Benign | 1675332 | criteria_provided,_single_submitter | missense_variant |
1 | 1,516,036 | T | G | Pathogenic | 828051 | no_assertion_criteria_provided | 5_prime_UTR_variant,missense_variant |
1 | 1,523,535 | C | T | Benign | 791764 | criteria_provided,_single_submitter | missense_variant |
1 | 1,525,242 | T | G | Pathogenic | 637018 | criteria_provided,_single_submitter | missense_variant |
1 | 1,527,777 | G | C | Benign | 791767 | criteria_provided,_single_submitter | missense_variant |
1 | 1,535,427 | C | T | Benign | 1235425 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 1,535,616 | G | A | Pathogenic | 161194 | no_assertion_criteria_provided | missense_variant |
1 | 1,535,723 | G | A | Pathogenic | 161195 | criteria_provided,_single_submitter | missense_variant |
1 | 1,626,711 | G | A | Benign | 780208 | criteria_provided,_single_submitter | missense_variant,non-coding_transcript_variant |
1 | 1,757,140 | C | A | Benign | 791769 | criteria_provided,_single_submitter | intron_variant,missense_variant |
1 | 1,759,182 | G | A | Benign | 716793 | criteria_provided,_single_submitter | intron_variant,missense_variant |
1 | 1,759,828 | G | A | Benign | 716794 | criteria_provided,_single_submitter | intron_variant,missense_variant |
1 | 1,790,438 | C | T | Benign | 1424675 | criteria_provided,_single_submitter | missense_variant |
1 | 1,790,444 | A | G | Benign | 1551623 | criteria_provided,_single_submitter | missense_variant |
1 | 1,790,578 | C | G | Benign | 1610568 | criteria_provided,_single_submitter | missense_variant |
1 | 1,793,270 | C | T | Benign | 1594453 | criteria_provided,_single_submitter | missense_variant |
1 | 1,804,475 | T | C | Benign | 1472005 | criteria_provided,_single_submitter | missense_variant |
1 | 1,804,496 | T | C | Pathogenic | 521213 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 1,804,497 | C | A | Pathogenic | 812755 | criteria_provided,_multiple_submitters,_no_conflicts | missense_variant |
1 | 1,804,502 | C | A | Pathogenic | 1194565 | criteria_provided,_single_submitter | missense_variant |
1 | 1,804,508 | C | T | Pathogenic | 1315581 | no_assertion_criteria_provided | missense_variant |
1 | 1,804,562 | C | A | Pathogenic | 995962 | no_assertion_criteria_provided | 5_prime_UTR_variant,missense_variant |
1 | 1,806,503 | A | T | Pathogenic | 224715 | criteria_provided,_multiple_submitters,_no_conflicts | 5_prime_UTR_variant,missense_variant |
1 | 1,806,512 | C | A | Pathogenic | 1315582 | no_assertion_criteria_provided | 5_prime_UTR_variant,missense_variant |
1 | 1,806,513 | C | A | Pathogenic | 1700090 | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant |
1 | 1,806,514 | A | T | Pathogenic | 1699320 | criteria_provided,_single_submitter | 5_prime_UTR_variant,missense_variant |
1 | 1,806,515 | T | C | Pathogenic | 224711 | criteria_provided,_multiple_submitters,_no_conflicts | 5_prime_UTR_variant,missense_variant |
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