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
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
852 | 852 | 506,197 | NM_000546.6(TP53):c.450A>C (p.Thr150=) | TP53 | 17 | 7,675,162 | 7,675,162 | Likely benign | T | G | false | reverse | 12,328 |
19 | 19 | 27,408 | NM_000546.6(TP53):c.451C>A (p.Pro151Thr) | TP53 | 17 | 7,675,161 | 7,675,161 | Pathogenic/Likely pathogenic | G | T | true | reverse | 12,329 |
20 | 20 | 27,409 | NM_000546.6(TP53):c.451C>T (p.Pro151Ser) | TP53 | 17 | 7,675,161 | 7,675,161 | Pathogenic/Likely pathogenic | G | A | true | reverse | 12,329 |
466 | 466 | 363,520 | NM_000546.6(TP53):c.451C>G (p.Pro151Ala) | TP53 | 17 | 7,675,161 | 7,675,161 | Pathogenic | G | C | true | reverse | 12,329 |
465 | 465 | 363,519 | NM_000546.6(TP53):c.452C>G (p.Pro151Arg) | TP53 | 17 | 7,675,160 | 7,675,160 | Pathogenic/Likely pathogenic | G | C | true | reverse | 12,330 |
1,580 | 1,580 | 2,972,903 | NM_000546.6(TP53):c.453C>G (p.Pro151=) | TP53 | 17 | 7,675,159 | 7,675,159 | Likely benign | G | C | false | reverse | 12,331 |
1,243 | 1,243 | 1,147,706 | NM_000546.6(TP53):c.453C>T (p.Pro151=) | TP53 | 17 | 7,675,159 | 7,675,159 | Likely benign | G | A | false | reverse | 12,331 |
134 | 134 | 152,480 | NM_000546.6(TP53):c.455C>T (p.Pro152Leu) | TP53 | 17 | 7,675,157 | 7,675,157 | Pathogenic | G | A | true | reverse | 12,333 |
1,084 | 1,084 | 814,494 | NM_000546.6(TP53):c.455C>G (p.Pro152Arg) | TP53 | 17 | 7,675,157 | 7,675,157 | Pathogenic/Likely pathogenic | G | C | true | reverse | 12,333 |
1,083 | 1,083 | 814,493 | NM_000546.6(TP53):c.456G>C (p.Pro152=) | TP53 | 17 | 7,675,156 | 7,675,156 | Likely benign | C | G | false | reverse | 12,334 |
325 | 325 | 236,491 | NM_000546.6(TP53):c.456G>A (p.Pro152=) | TP53 | 17 | 7,675,156 | 7,675,156 | Likely benign | C | T | false | reverse | 12,334 |
1,391 | 1,391 | 1,805,001 | NM_000546.6(TP53):c.456G>T (p.Pro152=) | TP53 | 17 | 7,675,156 | 7,675,156 | Likely benign | C | A | false | reverse | 12,334 |
324 | 324 | 236,490 | NM_000546.6(TP53):c.459C>T (p.Pro153=) | TP53 | 17 | 7,675,153 | 7,675,153 | Benign/Likely benign | G | A | false | reverse | 12,337 |
71 | 71 | 137,024 | NM_000546.6(TP53):c.462C>T (p.Gly154=) | TP53 | 17 | 7,675,150 | 7,675,150 | Likely benign | G | A | false | reverse | 12,340 |
1,242 | 1,242 | 1,147,705 | NM_000546.6(TP53):c.465C>T (p.Thr155=) | TP53 | 17 | 7,675,147 | 7,675,147 | Likely benign | G | A | false | reverse | 12,343 |
214 | 214 | 185,379 | NM_000546.6(TP53):c.465C>A (p.Thr155=) | TP53 | 17 | 7,675,147 | 7,675,147 | Likely benign | G | T | false | reverse | 12,343 |
213 | 213 | 185,378 | NM_000546.6(TP53):c.468C>T (p.Arg156=) | TP53 | 17 | 7,675,144 | 7,675,144 | Benign/Likely benign | G | A | false | reverse | 12,346 |
212 | 212 | 185,377 | NM_000546.6(TP53):c.469G>A (p.Val157Ile) | TP53 | 17 | 7,675,143 | 7,675,143 | Likely benign | C | T | false | reverse | 12,347 |
523 | 523 | 375,730 | NM_000546.6(TP53):c.471C>A (p.Val157=) | TP53 | 17 | 7,675,141 | 7,675,141 | Likely benign | G | T | false | reverse | 12,349 |
1,108 | 1,108 | 846,283 | NM_000546.6(TP53):c.472C>G (p.Arg158Gly) | TP53 | 17 | 7,675,140 | 7,675,140 | Pathogenic | G | C | true | reverse | 12,350 |
1,199 | 1,199 | 1,056,473 | NM_000546.6(TP53):c.472C>A (p.Arg158Ser) | TP53 | 17 | 7,675,140 | 7,675,140 | Pathogenic | G | T | true | reverse | 12,350 |
871 | 871 | 531,819 | NM_000546.6(TP53):c.473G>T (p.Arg158Leu) | TP53 | 17 | 7,675,139 | 7,675,139 | Pathogenic/Likely pathogenic | C | A | true | reverse | 12,351 |
368 | 368 | 245,076 | NM_000546.6(TP53):c.473G>C (p.Arg158Pro) | TP53 | 17 | 7,675,139 | 7,675,139 | Likely pathogenic | C | G | true | reverse | 12,351 |
110 | 110 | 151,677 | NM_000546.6(TP53):c.473G>A (p.Arg158His) | TP53 | 17 | 7,675,139 | 7,675,139 | Pathogenic/Likely pathogenic | C | T | true | reverse | 12,351 |
1,327 | 1,327 | 1,554,697 | NM_000546.6(TP53):c.474C>A (p.Arg158=) | TP53 | 17 | 7,675,138 | 7,675,138 | Likely benign | G | T | false | reverse | 12,352 |
211 | 211 | 185,376 | NM_000546.6(TP53):c.474C>T (p.Arg158=) | TP53 | 17 | 7,675,138 | 7,675,138 | Benign/Likely benign | G | A | false | reverse | 12,352 |
659 | 659 | 467,544 | NM_000546.6(TP53):c.476C>T (p.Ala159Val) | TP53 | 17 | 7,675,136 | 7,675,136 | Pathogenic/Likely pathogenic | G | A | true | reverse | 12,354 |
1,194 | 1,194 | 1,013,159 | NM_000546.6(TP53):c.476C>A (p.Ala159Asp) | TP53 | 17 | 7,675,136 | 7,675,136 | Pathogenic/Likely pathogenic | G | T | true | reverse | 12,354 |
522 | 522 | 375,728 | NM_000546.6(TP53):c.477C>T (p.Ala159=) | TP53 | 17 | 7,675,135 | 7,675,135 | Likely benign | G | A | false | reverse | 12,355 |
323 | 323 | 236,488 | NM_000546.6(TP53):c.480G>A (p.Met160Ile) | TP53 | 17 | 7,675,132 | 7,675,132 | Likely benign | C | T | false | reverse | 12,358 |
143 | 143 | 171,616 | NM_000546.6(TP53):c.481G>A (p.Ala161Thr) | TP53 | 17 | 7,675,131 | 7,675,131 | Pathogenic/Likely pathogenic | C | T | true | reverse | 12,359 |
521 | 521 | 375,726 | NM_000546.6(TP53):c.483C>A (p.Ala161=) | TP53 | 17 | 7,675,129 | 7,675,129 | Likely benign | G | T | false | reverse | 12,361 |
1,593 | 1,593 | 3,006,889 | NM_000546.6(TP53):c.483C>T (p.Ala161=) | TP53 | 17 | 7,675,129 | 7,675,129 | Likely benign | G | A | false | reverse | 12,361 |
52 | 52 | 133,271 | NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) | TP53 | 17 | 7,675,124 | 7,675,124 | Pathogenic | T | C | true | reverse | 12,366 |
911 | 911 | 611,260 | NM_000546.6(TP53):c.489C>G (p.Tyr163Ter) | TP53 | 17 | 7,675,123 | 7,675,123 | Pathogenic | G | C | true | reverse | 12,367 |
1,288 | 1,288 | 1,337,452 | NM_000546.6(TP53):c.489C>A (p.Tyr163Ter) | TP53 | 17 | 7,675,123 | 7,675,123 | Pathogenic | G | T | true | reverse | 12,367 |
1,174 | 1,174 | 938,237 | NM_000546.6(TP53):c.490A>T (p.Lys164Ter) | TP53 | 17 | 7,675,122 | 7,675,122 | Pathogenic | T | A | true | reverse | 12,368 |
729 | 729 | 479,347 | NM_000546.6(TP53):c.492G>A (p.Lys164=) | TP53 | 17 | 7,675,120 | 7,675,120 | Likely benign | C | T | false | reverse | 12,370 |
164 | 164 | 181,011 | NM_000546.6(TP53):c.493C>T (p.Gln165Ter) | TP53 | 17 | 7,675,119 | 7,675,119 | Pathogenic | G | A | true | reverse | 12,371 |
1,528 | 1,528 | 2,670,460 | NM_000546.6(TP53):c.494A>T (p.Gln165Leu) | TP53 | 17 | 7,675,118 | 7,675,118 | Pathogenic | T | A | true | reverse | 12,372 |
967 | 967 | 622,618 | NM_000546.6(TP53):c.497C>G (p.Ser166Ter) | TP53 | 17 | 7,675,115 | 7,675,115 | Pathogenic | G | C | true | reverse | 12,375 |
801 | 801 | 485,326 | NM_000546.6(TP53):c.498A>G (p.Ser166=) | TP53 | 17 | 7,675,114 | 7,675,114 | Likely benign | T | C | false | reverse | 12,376 |
870 | 870 | 531,807 | NM_000546.6(TP53):c.499C>T (p.Gln167Ter) | TP53 | 17 | 7,675,113 | 7,675,113 | Pathogenic/Likely pathogenic | G | A | true | reverse | 12,377 |
1,397 | 1,397 | 1,809,598 | NM_000546.6(TP53):c.501G>A (p.Gln167=) | TP53 | 17 | 7,675,111 | 7,675,111 | Likely benign | C | T | false | reverse | 12,379 |
1,392 | 1,392 | 1,805,779 | NM_000546.6(TP53):c.503A>T (p.His168Leu) | TP53 | 17 | 7,675,109 | 7,675,109 | Pathogenic | T | A | true | reverse | 12,381 |
281 | 281 | 222,741 | NM_000546.6(TP53):c.504C>T (p.His168=) | TP53 | 17 | 7,675,108 | 7,675,108 | Likely benign | G | A | false | reverse | 12,382 |
209 | 209 | 185,374 | NM_000546.6(TP53):c.509C>T (p.Thr170Met) | TP53 | 17 | 7,675,103 | 7,675,103 | Likely benign | G | A | false | reverse | 12,387 |
1,082 | 1,082 | 814,490 | NM_000546.6(TP53):c.510G>T (p.Thr170=) | TP53 | 17 | 7,675,102 | 7,675,102 | Likely benign | C | A | false | reverse | 12,388 |
1,384 | 1,384 | 1,802,454 | NM_000546.6(TP53):c.510G>C (p.Thr170=) | TP53 | 17 | 7,675,102 | 7,675,102 | Likely benign | C | G | false | reverse | 12,388 |
208 | 208 | 185,373 | NM_000546.6(TP53):c.510G>A (p.Thr170=) | TP53 | 17 | 7,675,102 | 7,675,102 | Benign/Likely benign | C | T | false | reverse | 12,388 |
966 | 966 | 622,617 | NM_000546.6(TP53):c.511G>T (p.Glu171Ter) | TP53 | 17 | 7,675,101 | 7,675,101 | Pathogenic | C | A | true | reverse | 12,389 |
1,385 | 1,385 | 1,802,577 | NM_000546.6(TP53):c.512A>G (p.Glu171Gly) | TP53 | 17 | 7,675,100 | 7,675,100 | Pathogenic | T | C | true | reverse | 12,390 |
721 | 721 | 479,323 | NM_000546.6(TP53):c.513G>A (p.Glu171=) | TP53 | 17 | 7,675,099 | 7,675,099 | Likely benign | C | T | false | reverse | 12,391 |
1,515 | 1,515 | 2,422,010 | NM_000546.6(TP53):c.513G>T (p.Glu171Asp) | TP53 | 17 | 7,675,099 | 7,675,099 | Pathogenic | C | A | true | reverse | 12,391 |
1,317 | 1,317 | 1,527,707 | NM_000546.6(TP53):c.516T>C (p.Val172=) | TP53 | 17 | 7,675,096 | 7,675,096 | Likely benign | A | G | false | reverse | 12,394 |
490 | 490 | 363,547 | NM_000546.6(TP53):c.517G>T (p.Val173Leu) | TP53 | 17 | 7,675,095 | 7,675,095 | Pathogenic/Likely pathogenic | C | A | true | reverse | 12,395 |
287 | 287 | 232,035 | NM_000546.6(TP53):c.517G>A (p.Val173Met) | TP53 | 17 | 7,675,095 | 7,675,095 | Pathogenic | C | T | true | reverse | 12,395 |
396 | 396 | 362,896 | NM_000546.6(TP53):c.518T>C (p.Val173Ala) | TP53 | 17 | 7,675,094 | 7,675,094 | Pathogenic/Likely pathogenic | A | G | true | reverse | 12,396 |
1,344 | 1,344 | 1,605,261 | NM_000546.6(TP53):c.519G>C (p.Val173=) | TP53 | 17 | 7,675,093 | 7,675,093 | Likely benign | C | G | false | reverse | 12,397 |
1,383 | 1,383 | 1,799,592 | NM_000546.6(TP53):c.519G>T (p.Val173=) | TP53 | 17 | 7,675,093 | 7,675,093 | Likely benign | C | A | false | reverse | 12,397 |
857 | 857 | 506,749 | NM_000546.6(TP53):c.519G>A (p.Val173=) | TP53 | 17 | 7,675,093 | 7,675,093 | Likely benign | C | T | false | reverse | 12,397 |
615 | 615 | 410,272 | NM_000546.6(TP53):c.521G>A (p.Arg174Lys) | TP53 | 17 | 7,675,091 | 7,675,091 | Likely benign | C | T | false | reverse | 12,399 |
472 | 472 | 363,528 | NM_000546.6(TP53):c.523C>G (p.Arg175Gly) | TP53 | 17 | 7,675,089 | 7,675,089 | Pathogenic/Likely pathogenic | G | C | true | reverse | 12,401 |
163 | 163 | 181,010 | NM_000546.6(TP53):c.524G>T (p.Arg175Leu) | TP53 | 17 | 7,675,088 | 7,675,088 | Pathogenic/Likely pathogenic | C | A | true | reverse | 12,402 |
23 | 23 | 27,413 | NM_000546.6(TP53):c.524G>A (p.Arg175His) | TP53 | 17 | 7,675,088 | 7,675,088 | Pathogenic | C | T | true | reverse | 12,402 |
1,341 | 1,341 | 1,603,133 | NM_000546.6(TP53):c.525C>T (p.Arg175=) | TP53 | 17 | 7,675,087 | 7,675,087 | Likely benign | G | A | false | reverse | 12,403 |
406 | 406 | 363,448 | NM_000546.6(TP53):c.527G>T (p.Cys176Phe) | TP53 | 17 | 7,675,085 | 7,675,085 | Pathogenic/Likely pathogenic | C | A | true | reverse | 12,405 |
207 | 207 | 185,371 | NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) | TP53 | 17 | 7,675,085 | 7,675,085 | Pathogenic | C | T | true | reverse | 12,405 |
1,393 | 1,393 | 1,806,154 | NM_000546.6(TP53):c.528C>A (p.Cys176Ter) | TP53 | 17 | 7,675,084 | 7,675,084 | Pathogenic | G | T | true | reverse | 12,406 |
669 | 669 | 468,390 | NM_000546.6(TP53):c.530C>G (p.Pro177Arg) | TP53 | 17 | 7,675,082 | 7,675,082 | Pathogenic/Likely pathogenic | G | C | true | reverse | 12,408 |
1,081 | 1,081 | 814,488 | NM_000546.6(TP53):c.531C>G (p.Pro177=) | TP53 | 17 | 7,675,081 | 7,675,081 | Likely benign | G | C | false | reverse | 12,409 |
1,491 | 1,491 | 2,083,260 | NM_000546.6(TP53):c.531C>A (p.Pro177=) | TP53 | 17 | 7,675,081 | 7,675,081 | Likely benign | G | T | false | reverse | 12,409 |
1,253 | 1,253 | 1,161,408 | NM_000546.6(TP53):c.531C>T (p.Pro177=) | TP53 | 17 | 7,675,081 | 7,675,081 | Likely benign | G | A | false | reverse | 12,409 |
756 | 756 | 480,057 | NM_000546.6(TP53):c.532C>G (p.His178Asp) | TP53 | 17 | 7,675,080 | 7,675,080 | Likely pathogenic | G | C | true | reverse | 12,410 |
893 | 893 | 569,777 | NM_000546.6(TP53):c.534C>A (p.His178Gln) | TP53 | 17 | 7,675,078 | 7,675,078 | Pathogenic/Likely pathogenic | G | T | true | reverse | 12,412 |
1,170 | 1,170 | 928,554 | NM_000546.6(TP53):c.534C>G (p.His178Gln) | TP53 | 17 | 7,675,078 | 7,675,078 | Pathogenic/Likely pathogenic | G | C | true | reverse | 12,412 |
755 | 755 | 480,055 | NM_000546.6(TP53):c.534C>T (p.His178=) | TP53 | 17 | 7,675,078 | 7,675,078 | Likely benign | G | A | false | reverse | 12,412 |
53 | 53 | 133,272 | NM_000546.6(TP53):c.535C>T (p.His179Tyr) | TP53 | 17 | 7,675,077 | 7,675,077 | Pathogenic/Likely pathogenic | G | A | true | reverse | 12,413 |
573 | 573 | 402,563 | NM_000546.6(TP53):c.537T>A (p.His179Gln) | TP53 | 17 | 7,675,075 | 7,675,075 | Pathogenic | A | T | true | reverse | 12,415 |
440 | 440 | 363,486 | NM_000546.6(TP53):c.537T>G (p.His179Gln) | TP53 | 17 | 7,675,075 | 7,675,075 | Pathogenic/Likely pathogenic | A | C | true | reverse | 12,415 |
322 | 322 | 236,487 | NM_000546.6(TP53):c.537T>C (p.His179=) | TP53 | 17 | 7,675,075 | 7,675,075 | Likely benign | A | G | false | reverse | 12,415 |
965 | 965 | 622,615 | NM_000546.6(TP53):c.538G>T (p.Glu180Ter) | TP53 | 17 | 7,675,074 | 7,675,074 | Pathogenic | C | A | true | reverse | 12,416 |
366 | 366 | 245,073 | NM_000546.6(TP53):c.538G>A (p.Glu180Lys) | TP53 | 17 | 7,675,074 | 7,675,074 | Likely pathogenic | C | T | true | reverse | 12,416 |
1,582 | 1,582 | 2,978,652 | NM_000546.6(TP53):c.540G>A (p.Glu180=) | TP53 | 17 | 7,675,072 | 7,675,072 | Likely benign | C | T | false | reverse | 12,418 |
1,080 | 1,080 | 814,487 | NM_000546.6(TP53):c.542G>C (p.Arg181Pro) | TP53 | 17 | 7,675,070 | 7,675,070 | Pathogenic/Likely pathogenic | C | G | true | reverse | 12,420 |
321 | 321 | 236,485 | NM_000546.6(TP53):c.543C>T (p.Arg181=) | TP53 | 17 | 7,675,069 | 7,675,069 | Likely benign | G | A | false | reverse | 12,421 |
964 | 964 | 622,612 | NM_000546.6(TP53):c.548C>G (p.Ser183Ter) | TP53 | 17 | 7,675,064 | 7,675,064 | Pathogenic | G | C | true | reverse | 12,426 |
1,527 | 1,527 | 2,668,013 | NM_000546.6(TP53):c.549A>T (p.Ser183=) | TP53 | 17 | 7,675,063 | 7,675,063 | Pathogenic | T | A | true | reverse | 12,427 |
1,319 | 1,319 | 1,531,726 | NM_000546.6(TP53):c.549A>C (p.Ser183=) | TP53 | 17 | 7,675,063 | 7,675,063 | Likely benign | T | G | false | reverse | 12,427 |
1,034 | 1,034 | 771,857 | NM_000546.6(TP53):c.549A>G (p.Ser183=) | TP53 | 17 | 7,675,063 | 7,675,063 | Likely benign | T | C | false | reverse | 12,427 |
96 | 96 | 151,073 | NM_000546.6(TP53):c.554G>A (p.Ser185Asn) | TP53 | 17 | 7,675,058 | 7,675,058 | Likely benign | C | T | false | reverse | 12,432 |
206 | 206 | 185,369 | NM_000546.6(TP53):c.555C>T (p.Ser185=) | TP53 | 17 | 7,675,057 | 7,675,057 | Likely benign | G | A | false | reverse | 12,433 |
1,394 | 1,394 | 1,806,528 | NM_000546.6(TP53):c.555C>G (p.Ser185Arg) | TP53 | 17 | 7,675,057 | 7,675,057 | Likely benign | G | C | false | reverse | 12,433 |
572 | 572 | 402,562 | NM_000546.6(TP53):c.556G>A (p.Asp186Asn) | TP53 | 17 | 7,675,056 | 7,675,056 | Likely benign | C | T | false | reverse | 12,434 |
205 | 205 | 185,368 | NM_000546.6(TP53):c.558T>C (p.Asp186=) | TP53 | 17 | 7,675,054 | 7,675,054 | Likely benign | A | G | false | reverse | 12,436 |
320 | 320 | 236,484 | NM_000546.6(TP53):c.558T>A (p.Asp186Glu) | TP53 | 17 | 7,675,054 | 7,675,054 | Likely benign | A | T | false | reverse | 12,436 |
1,016 | 1,016 | 653,524 | NM_000546.6(TP53):c.559+1G>T | TP53 | 17 | 7,675,052 | 7,675,052 | Pathogenic/Likely pathogenic | C | A | true | reverse | 12,438 |
630 | 630 | 420,656 | NM_000546.6(TP53):c.559+1G>A | TP53 | 17 | 7,675,052 | 7,675,052 | Pathogenic/Likely pathogenic | C | T | true | reverse | 12,438 |
990 | 990 | 623,215 | NM_000546.6(TP53):c.559+2T>A | TP53 | 17 | 7,675,051 | 7,675,051 | Pathogenic | A | T | true | reverse | 12,439 |
1,013 | 1,013 | 653,036 | NM_000546.6(TP53):c.559+6C>A | TP53 | 17 | 7,675,047 | 7,675,047 | Likely benign | G | T | false | reverse | 12,443 |
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