Unnamed: 0.1
int64 0
1.63k
| Unnamed: 0
int64 0
1.63k
| #AlleleID
int64 27.4k
3.4M
| Name
stringlengths 25
43
| GeneSymbol
stringclasses 1
value | Chromosome
int64 17
17
| Start
int64 7.67M
7.69M
| Stop
int64 7.67M
7.69M
| ClinicalSignificance
stringclasses 8
values | ReferenceAlleleVCF
stringclasses 4
values | AlternateAlleleVCF
stringclasses 4
values | IsPathogenic
bool 2
classes | Strand
stringclasses 1
value | NewIndex
int64 99
19.6k
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
145 | 145 | 176,504 | NM_000546.6(TP53):c.215= (p.Pro72=) | TP53 | 17 | 7,676,154 | 7,676,154 | Benign | G | G | false | reverse | 11,336 |
233 | 233 | 185,404 | NM_000546.6(TP53):c.216C>T (p.Pro72=) | TP53 | 17 | 7,676,153 | 7,676,153 | Benign/Likely benign | G | A | false | reverse | 11,337 |
1,542 | 1,542 | 2,753,441 | NM_000546.6(TP53):c.216C>G (p.Pro72=) | TP53 | 17 | 7,676,153 | 7,676,153 | Likely benign | G | C | false | reverse | 11,337 |
125 | 125 | 152,100 | NM_000546.6(TP53):c.217G>A (p.Val73Met) | TP53 | 17 | 7,676,152 | 7,676,152 | Likely benign | C | T | false | reverse | 11,338 |
1,143 | 1,143 | 914,201 | NM_000546.6(TP53):c.219G>T (p.Val73=) | TP53 | 17 | 7,676,150 | 7,676,150 | Likely benign | C | A | false | reverse | 11,340 |
101 | 101 | 151,261 | NM_000546.6(TP53):c.221C>T (p.Ala74Val) | TP53 | 17 | 7,676,148 | 7,676,148 | Likely benign | G | A | false | reverse | 11,342 |
232 | 232 | 185,403 | NM_000546.6(TP53):c.222C>T (p.Ala74=) | TP53 | 17 | 7,676,147 | 7,676,147 | Benign/Likely benign | G | A | false | reverse | 11,343 |
1,442 | 1,442 | 1,841,277 | NM_000546.6(TP53):c.228A>G (p.Ala76=) | TP53 | 17 | 7,676,141 | 7,676,141 | Likely benign | T | C | false | reverse | 11,349 |
231 | 231 | 185,402 | NM_000546.6(TP53):c.234A>G (p.Ala78=) | TP53 | 17 | 7,676,135 | 7,676,135 | Benign/Likely benign | T | C | false | reverse | 11,355 |
1,443 | 1,443 | 1,841,327 | NM_000546.6(TP53):c.237T>C (p.Ala79=) | TP53 | 17 | 7,676,132 | 7,676,132 | Likely benign | A | G | false | reverse | 11,358 |
1,254 | 1,254 | 1,161,409 | NM_000546.6(TP53):c.237T>G (p.Ala79=) | TP53 | 17 | 7,676,132 | 7,676,132 | Likely benign | A | C | false | reverse | 11,358 |
1,052 | 1,052 | 785,762 | NM_000546.6(TP53):c.243A>G (p.Thr81=) | TP53 | 17 | 7,676,126 | 7,676,126 | Likely benign | T | C | false | reverse | 11,364 |
1,450 | 1,450 | 1,848,105 | NM_000546.6(TP53):c.243A>T (p.Thr81=) | TP53 | 17 | 7,676,126 | 7,676,126 | Likely benign | T | A | false | reverse | 11,364 |
168 | 168 | 181,024 | NM_000546.6(TP53):c.245C>T (p.Pro82Leu) | TP53 | 17 | 7,676,124 | 7,676,124 | Likely benign | G | A | false | reverse | 11,366 |
1,447 | 1,447 | 1,845,193 | NM_000546.6(TP53):c.246G>C (p.Pro82=) | TP53 | 17 | 7,676,123 | 7,676,123 | Likely benign | C | G | false | reverse | 11,367 |
1,557 | 1,557 | 2,881,907 | NM_000546.6(TP53):c.246G>T (p.Pro82=) | TP53 | 17 | 7,676,123 | 7,676,123 | Likely benign | C | A | false | reverse | 11,367 |
230 | 230 | 185,401 | NM_000546.6(TP53):c.246G>A (p.Pro82=) | TP53 | 17 | 7,676,123 | 7,676,123 | Benign/Likely benign | C | T | false | reverse | 11,367 |
229 | 229 | 185,400 | NM_000546.6(TP53):c.249G>A (p.Ala83=) | TP53 | 17 | 7,676,120 | 7,676,120 | Benign/Likely benign | C | T | false | reverse | 11,370 |
86 | 86 | 150,547 | NM_000546.6(TP53):c.250G>A (p.Ala84Thr) | TP53 | 17 | 7,676,119 | 7,676,119 | Likely benign | C | T | false | reverse | 11,371 |
1,608 | 1,608 | 3,141,790 | NM_000546.6(TP53):c.252C>A (p.Ala84=) | TP53 | 17 | 7,676,117 | 7,676,117 | Likely benign | G | T | false | reverse | 11,373 |
228 | 228 | 185,399 | NM_000546.6(TP53):c.255T>A (p.Pro85=) | TP53 | 17 | 7,676,114 | 7,676,114 | Likely benign | A | T | false | reverse | 11,376 |
227 | 227 | 185,398 | NM_000546.6(TP53):c.255T>C (p.Pro85=) | TP53 | 17 | 7,676,114 | 7,676,114 | Benign/Likely benign | A | G | false | reverse | 11,376 |
1,448 | 1,448 | 1,845,599 | NM_000546.6(TP53):c.258A>G (p.Ala86=) | TP53 | 17 | 7,676,111 | 7,676,111 | Likely benign | T | C | false | reverse | 11,379 |
1,320 | 1,320 | 1,532,692 | NM_000546.6(TP53):c.261A>C (p.Pro87=) | TP53 | 17 | 7,676,108 | 7,676,108 | Likely benign | T | G | false | reverse | 11,382 |
1,248 | 1,248 | 1,147,711 | NM_000546.6(TP53):c.261A>T (p.Pro87=) | TP53 | 17 | 7,676,108 | 7,676,108 | Likely benign | T | A | false | reverse | 11,382 |
338 | 338 | 236,505 | NM_000546.6(TP53):c.264C>T (p.Ala88=) | TP53 | 17 | 7,676,105 | 7,676,105 | Likely benign | G | A | false | reverse | 11,385 |
1,090 | 1,090 | 814,513 | NM_000546.6(TP53):c.265C>A (p.Pro89Thr) | TP53 | 17 | 7,676,104 | 7,676,104 | Likely benign | G | T | false | reverse | 11,386 |
226 | 226 | 185,397 | NM_000546.6(TP53):c.267C>T (p.Pro89=) | TP53 | 17 | 7,676,102 | 7,676,102 | Likely benign | G | A | false | reverse | 11,388 |
524 | 524 | 375,731 | NM_000546.6(TP53):c.267C>A (p.Pro89=) | TP53 | 17 | 7,676,102 | 7,676,102 | Likely benign | G | T | false | reverse | 11,388 |
271 | 271 | 213,403 | NM_000546.6(TP53):c.270C>T (p.Ser90=) | TP53 | 17 | 7,676,099 | 7,676,099 | Likely benign | G | A | false | reverse | 11,391 |
1,452 | 1,452 | 1,849,250 | NM_000546.6(TP53):c.270C>G (p.Ser90=) | TP53 | 17 | 7,676,099 | 7,676,099 | Likely benign | G | C | false | reverse | 11,391 |
1,186 | 1,186 | 967,157 | NM_000546.6(TP53):c.272G>A (p.Trp91Ter) | TP53 | 17 | 7,676,097 | 7,676,097 | Pathogenic/Likely pathogenic | C | T | true | reverse | 11,393 |
337 | 337 | 236,504 | NM_000546.6(TP53):c.273G>A (p.Trp91Ter) | TP53 | 17 | 7,676,096 | 7,676,096 | Pathogenic | C | T | true | reverse | 11,394 |
336 | 336 | 236,503 | NM_000546.6(TP53):c.276C>T (p.Pro92=) | TP53 | 17 | 7,676,093 | 7,676,093 | Likely benign | G | A | false | reverse | 11,397 |
863 | 863 | 507,184 | NM_000546.6(TP53):c.276C>A (p.Pro92=) | TP53 | 17 | 7,676,093 | 7,676,093 | Likely benign | G | T | false | reverse | 11,397 |
335 | 335 | 236,502 | NM_000546.6(TP53):c.277C>T (p.Leu93=) | TP53 | 17 | 7,676,092 | 7,676,092 | Likely benign | G | A | false | reverse | 11,398 |
1,209 | 1,209 | 1,083,631 | NM_000546.6(TP53):c.279G>A (p.Leu93=) | TP53 | 17 | 7,676,090 | 7,676,090 | Likely benign | C | T | false | reverse | 11,400 |
358 | 358 | 242,988 | NM_000546.6(TP53):c.279G>T (p.Leu93=) | TP53 | 17 | 7,676,090 | 7,676,090 | Likely benign | C | A | false | reverse | 11,400 |
1,453 | 1,453 | 1,852,854 | NM_000546.6(TP53):c.281C>A (p.Ser94Ter) | TP53 | 17 | 7,676,088 | 7,676,088 | Pathogenic | G | T | true | reverse | 11,402 |
1,454 | 1,454 | 1,852,861 | NM_000546.6(TP53):c.281C>T (p.Ser94Leu) | TP53 | 17 | 7,676,088 | 7,676,088 | Likely benign | G | A | false | reverse | 11,402 |
1,051 | 1,051 | 785,761 | NM_000546.6(TP53):c.282A>T (p.Ser94=) | TP53 | 17 | 7,676,087 | 7,676,087 | Likely benign | T | A | false | reverse | 11,403 |
334 | 334 | 236,501 | NM_000546.6(TP53):c.282A>G (p.Ser94=) | TP53 | 17 | 7,676,087 | 7,676,087 | Likely benign | T | C | false | reverse | 11,403 |
333 | 333 | 236,500 | NM_000546.6(TP53):c.285T>G (p.Ser95=) | TP53 | 17 | 7,676,084 | 7,676,084 | Likely benign | A | C | false | reverse | 11,406 |
1,287 | 1,287 | 1,322,619 | NM_000546.6(TP53):c.288T>C (p.Ser96=) | TP53 | 17 | 7,676,081 | 7,676,081 | Likely benign | A | G | false | reverse | 11,409 |
1,458 | 1,458 | 1,855,867 | NM_000546.6(TP53):c.288T>G (p.Ser96=) | TP53 | 17 | 7,676,081 | 7,676,081 | Likely benign | A | C | false | reverse | 11,409 |
1,456 | 1,456 | 1,854,591 | NM_000546.6(TP53):c.291C>A (p.Val97=) | TP53 | 17 | 7,676,078 | 7,676,078 | Likely benign | G | T | false | reverse | 11,412 |
1,529 | 1,529 | 2,732,373 | NM_000546.6(TP53):c.294T>A (p.Pro98=) | TP53 | 17 | 7,676,075 | 7,676,075 | Likely benign | A | T | false | reverse | 11,415 |
332 | 332 | 236,499 | NM_000546.6(TP53):c.297C>T (p.Ser99=) | TP53 | 17 | 7,676,072 | 7,676,072 | Likely benign | G | A | false | reverse | 11,418 |
976 | 976 | 622,641 | NM_000546.6(TP53):c.298C>T (p.Gln100Ter) | TP53 | 17 | 7,676,071 | 7,676,071 | Pathogenic/Likely pathogenic | G | A | true | reverse | 11,419 |
1,036 | 1,036 | 771,859 | NM_000546.6(TP53):c.300G>A (p.Gln100=) | TP53 | 17 | 7,676,069 | 7,676,069 | Likely benign | C | T | false | reverse | 11,421 |
1,457 | 1,457 | 1,855,065 | NM_000546.6(TP53):c.306C>A (p.Thr102=) | TP53 | 17 | 7,676,063 | 7,676,063 | Likely benign | G | T | false | reverse | 11,427 |
1,599 | 1,599 | 3,024,843 | NM_000546.6(TP53):c.306C>G (p.Thr102=) | TP53 | 17 | 7,676,063 | 7,676,063 | Likely benign | G | C | false | reverse | 11,427 |
1,463 | 1,463 | 1,871,520 | NM_000546.6(TP53):c.309C>A (p.Tyr103Ter) | TP53 | 17 | 7,676,060 | 7,676,060 | Pathogenic | G | T | true | reverse | 11,430 |
1,088 | 1,088 | 814,509 | NM_000546.6(TP53):c.309C>G (p.Tyr103Ter) | TP53 | 17 | 7,676,060 | 7,676,060 | Pathogenic | G | C | true | reverse | 11,430 |
900 | 900 | 572,320 | NM_000546.6(TP53):c.310C>T (p.Gln104Ter) | TP53 | 17 | 7,676,059 | 7,676,059 | Pathogenic | G | A | true | reverse | 11,431 |
1,050 | 1,050 | 785,760 | NM_000546.6(TP53):c.312G>A (p.Gln104=) | TP53 | 17 | 7,676,057 | 7,676,057 | Likely benign | C | T | false | reverse | 11,433 |
581 | 581 | 402,601 | NM_000546.6(TP53):c.313G>C (p.Gly105Arg) | TP53 | 17 | 7,676,056 | 7,676,056 | Pathogenic/Likely pathogenic | C | G | true | reverse | 11,434 |
637 | 637 | 420,671 | NM_000546.6(TP53):c.313G>A (p.Gly105Ser) | TP53 | 17 | 7,676,056 | 7,676,056 | Pathogenic/Likely pathogenic | C | T | true | reverse | 11,434 |
975 | 975 | 622,639 | NM_000546.6(TP53):c.314G>T (p.Gly105Val) | TP53 | 17 | 7,676,055 | 7,676,055 | Likely pathogenic | C | A | true | reverse | 11,435 |
1,377 | 1,377 | 1,791,669 | NM_000546.6(TP53):c.315C>A (p.Gly105=) | TP53 | 17 | 7,676,054 | 7,676,054 | Likely benign | G | T | false | reverse | 11,436 |
844 | 844 | 485,679 | NM_000546.6(TP53):c.318C>G (p.Ser106Arg) | TP53 | 17 | 7,676,051 | 7,676,051 | Likely pathogenic | G | C | true | reverse | 11,439 |
83 | 83 | 150,500 | NM_000546.5(TP53):c.319T>C (p.Tyr107His) | TP53 | 17 | 7,676,050 | 7,676,050 | Benign | A | G | false | reverse | 11,440 |
331 | 331 | 236,498 | NM_000546.6(TP53):c.321C>T (p.Tyr107=) | TP53 | 17 | 7,676,048 | 7,676,048 | Likely benign | G | A | false | reverse | 11,442 |
580 | 580 | 402,597 | NM_000546.6(TP53):c.321C>A (p.Tyr107Ter) | TP53 | 17 | 7,676,048 | 7,676,048 | Pathogenic | G | T | true | reverse | 11,442 |
1,203 | 1,203 | 1,064,426 | NM_000546.6(TP53):c.321C>G (p.Tyr107Ter) | TP53 | 17 | 7,676,048 | 7,676,048 | Pathogenic | G | C | true | reverse | 11,442 |
126 | 126 | 152,145 | NM_000546.6(TP53):c.322G>A (p.Gly108Ser) | TP53 | 17 | 7,676,047 | 7,676,047 | Likely benign | C | T | false | reverse | 11,443 |
1,546 | 1,546 | 2,794,537 | NM_000546.6(TP53):c.325T>A (p.Phe109Ile) | TP53 | 17 | 7,676,044 | 7,676,044 | Likely pathogenic | A | T | true | reverse | 11,446 |
557 | 557 | 378,807 | NM_000546.6(TP53):c.325T>G (p.Phe109Val) | TP53 | 17 | 7,676,044 | 7,676,044 | Pathogenic/Likely pathogenic | A | C | true | reverse | 11,446 |
974 | 974 | 622,638 | NM_000546.6(TP53):c.326T>G (p.Phe109Cys) | TP53 | 17 | 7,676,043 | 7,676,043 | Likely pathogenic | A | C | true | reverse | 11,447 |
1,381 | 1,381 | 1,795,387 | NM_000546.6(TP53):c.327C>T (p.Phe109=) | TP53 | 17 | 7,676,042 | 7,676,042 | Likely benign | G | A | false | reverse | 11,448 |
49 | 49 | 133,265 | NM_000546.6(TP53):c.329G>A (p.Arg110His) | TP53 | 17 | 7,676,040 | 7,676,040 | Likely benign | C | T | false | reverse | 11,450 |
330 | 330 | 236,497 | NM_000546.6(TP53):c.329G>C (p.Arg110Pro) | TP53 | 17 | 7,676,040 | 7,676,040 | Pathogenic/Likely pathogenic | C | G | true | reverse | 11,450 |
575 | 575 | 402,569 | NM_000546.6(TP53):c.329G>T (p.Arg110Leu) | TP53 | 17 | 7,676,040 | 7,676,040 | Pathogenic/Likely pathogenic | C | A | true | reverse | 11,450 |
595 | 595 | 403,036 | NM_000546.6(TP53):c.330T>C (p.Arg110=) | TP53 | 17 | 7,676,039 | 7,676,039 | Likely benign | A | G | false | reverse | 11,451 |
1,024 | 1,024 | 694,209 | NM_000546.6(TP53):c.331C>T (p.Leu111=) | TP53 | 17 | 7,676,038 | 7,676,038 | Likely benign | G | A | false | reverse | 11,452 |
1,520 | 1,520 | 2,423,243 | NM_000546.6(TP53):c.333G>C (p.Leu111=) | TP53 | 17 | 7,676,036 | 7,676,036 | Likely benign | C | G | false | reverse | 11,454 |
329 | 329 | 236,496 | NM_000546.6(TP53):c.336C>A (p.Gly112=) | TP53 | 17 | 7,676,033 | 7,676,033 | Benign/Likely benign | G | T | false | reverse | 11,457 |
1,035 | 1,035 | 771,858 | NM_000546.6(TP53):c.336C>G (p.Gly112=) | TP53 | 17 | 7,676,033 | 7,676,033 | Likely benign | G | C | false | reverse | 11,457 |
1,509 | 1,509 | 2,177,968 | NM_000546.6(TP53):c.339C>A (p.Phe113Leu) | TP53 | 17 | 7,676,030 | 7,676,030 | Likely pathogenic | G | T | true | reverse | 11,460 |
1,584 | 1,584 | 2,978,846 | NM_000546.6(TP53):c.340T>C (p.Leu114=) | TP53 | 17 | 7,676,029 | 7,676,029 | Likely benign | A | G | false | reverse | 11,461 |
973 | 973 | 622,636 | NM_000546.6(TP53):c.341T>A (p.Leu114Ter) | TP53 | 17 | 7,676,028 | 7,676,028 | Pathogenic | A | T | true | reverse | 11,462 |
166 | 166 | 181,019 | NM_000546.6(TP53):c.344A>G (p.His115Arg) | TP53 | 17 | 7,676,025 | 7,676,025 | Likely benign | T | C | false | reverse | 11,465 |
730 | 730 | 479,348 | NM_000546.6(TP53):c.345T>C (p.His115=) | TP53 | 17 | 7,676,024 | 7,676,024 | Likely benign | A | G | false | reverse | 11,466 |
1,247 | 1,247 | 1,147,710 | NM_000546.6(TP53):c.348T>C (p.Ser116=) | TP53 | 17 | 7,676,021 | 7,676,021 | Likely benign | A | G | false | reverse | 11,469 |
328 | 328 | 236,495 | NM_000546.6(TP53):c.351G>A (p.Gly117=) | TP53 | 17 | 7,676,018 | 7,676,018 | Likely benign | C | T | false | reverse | 11,472 |
224 | 224 | 185,395 | NM_000546.6(TP53):c.354A>T (p.Thr118=) | TP53 | 17 | 7,676,015 | 7,676,015 | Benign/Likely benign | T | A | false | reverse | 11,475 |
1,220 | 1,220 | 1,105,427 | NM_000546.6(TP53):c.354A>G (p.Thr118=) | TP53 | 17 | 7,676,015 | 7,676,015 | Likely benign | T | C | false | reverse | 11,475 |
13 | 13 | 27,402 | NM_000546.6(TP53):c.358A>T (p.Lys120Ter) | TP53 | 17 | 7,676,011 | 7,676,011 | Pathogenic | T | A | true | reverse | 11,479 |
920 | 920 | 618,839 | NM_000546.6(TP53):c.363T>G (p.Ser121=) | TP53 | 17 | 7,676,006 | 7,676,006 | Likely benign | A | C | false | reverse | 11,484 |
90 | 90 | 150,815 | NM_000546.6(TP53):c.364G>A (p.Val122Met) | TP53 | 17 | 7,676,005 | 7,676,005 | Likely benign | C | T | false | reverse | 11,485 |
1,233 | 1,233 | 1,126,812 | NM_000546.6(TP53):c.366G>T (p.Val122=) | TP53 | 17 | 7,676,003 | 7,676,003 | Likely benign | C | A | false | reverse | 11,487 |
1,246 | 1,246 | 1,147,709 | NM_000546.6(TP53):c.366G>A (p.Val122=) | TP53 | 17 | 7,676,003 | 7,676,003 | Likely benign | C | T | false | reverse | 11,487 |
671 | 671 | 468,405 | NM_000546.6(TP53):c.372C>A (p.Cys124Ter) | TP53 | 17 | 7,675,997 | 7,675,997 | Pathogenic | G | T | true | reverse | 11,493 |
489 | 489 | 363,546 | NM_000546.6(TP53):c.374C>G (p.Thr125Arg) | TP53 | 17 | 7,675,995 | 7,675,995 | Pathogenic/Likely pathogenic | G | C | true | reverse | 11,495 |
270 | 270 | 213,402 | NM_000546.6(TP53):c.374C>A (p.Thr125Lys) | TP53 | 17 | 7,675,995 | 7,675,995 | Pathogenic/Likely pathogenic | G | T | true | reverse | 11,495 |
738 | 738 | 479,362 | NM_000546.6(TP53):c.375G>C (p.Thr125=) | TP53 | 17 | 7,675,994 | 7,675,994 | Pathogenic/Likely pathogenic | C | G | true | reverse | 11,496 |
357 | 357 | 242,985 | NM_000546.6(TP53):c.375G>T (p.Thr125=) | TP53 | 17 | 7,675,994 | 7,675,994 | Pathogenic/Likely pathogenic | C | A | true | reverse | 11,496 |
147 | 147 | 176,641 | NM_000546.6(TP53):c.375G>A (p.Thr125=) | TP53 | 17 | 7,675,994 | 7,675,994 | Pathogenic/Likely pathogenic | C | T | true | reverse | 11,496 |
982 | 982 | 622,670 | NM_000546.6(TP53):c.375+1G>A | TP53 | 17 | 7,675,993 | 7,675,993 | Pathogenic/Likely pathogenic | C | T | true | reverse | 11,497 |
992 | 992 | 623,217 | NM_000546.6(TP53):c.375+1G>T | TP53 | 17 | 7,675,993 | 7,675,993 | Pathogenic/Likely pathogenic | C | A | true | reverse | 11,497 |
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