Dataset Viewer
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
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1,056 | 1,056 | 791,836 | NM_000546.6(TP53):c.-43G>T | TP53 | 17 | 7,687,391 | 7,687,391 | Likely benign | C | A | false | reverse | 99 |
865 | 865 | 507,189 | NM_000546.6(TP53):c.-29+9C>T | TP53 | 17 | 7,687,368 | 7,687,368 | Likely benign | G | A | false | reverse | 122 |
1,265 | 1,265 | 1,210,248 | NM_000546.6(TP53):c.-28-341C>T | TP53 | 17 | 7,676,963 | 7,676,963 | Likely benign | G | A | false | reverse | 10,527 |
1,021 | 1,021 | 669,113 | NM_000546.6(TP53):c.-28-177G>C | TP53 | 17 | 7,676,799 | 7,676,799 | Likely benign | C | G | false | reverse | 10,691 |
1,279 | 1,279 | 1,282,225 | NM_000546.6(TP53):c.-28-112G>A | TP53 | 17 | 7,676,734 | 7,676,734 | Benign | C | T | false | reverse | 10,756 |
859 | 859 | 506,758 | NM_000546.6(TP53):c.-28-14T>G | TP53 | 17 | 7,676,636 | 7,676,636 | Likely benign | A | C | false | reverse | 10,854 |
547 | 547 | 376,718 | NM_000546.6(TP53):c.-20C>G | TP53 | 17 | 7,676,614 | 7,676,614 | Likely benign | G | C | false | reverse | 10,876 |
546 | 546 | 376,713 | NM_000546.6(TP53):c.-16C>T | TP53 | 17 | 7,676,610 | 7,676,610 | Likely benign | G | A | false | reverse | 10,880 |
1,144 | 1,144 | 914,207 | NM_000546.6(TP53):c.-11G>T | TP53 | 17 | 7,676,605 | 7,676,605 | Likely benign | C | A | false | reverse | 10,885 |
252 | 252 | 185,426 | NM_000546.6(TP53):c.6G>A (p.Glu2=) | TP53 | 17 | 7,676,589 | 7,676,589 | Benign/Likely benign | C | T | false | reverse | 10,901 |
864 | 864 | 507,187 | NM_000546.6(TP53):c.9G>A (p.Glu3=) | TP53 | 17 | 7,676,586 | 7,676,586 | Likely benign | C | T | false | reverse | 10,904 |
360 | 360 | 242,994 | NM_000546.6(TP53):c.11C>T (p.Pro4Leu) | TP53 | 17 | 7,676,584 | 7,676,584 | Likely benign | G | A | false | reverse | 10,906 |
1,516 | 1,516 | 2,423,226 | NM_000546.6(TP53):c.11C>A (p.Pro4Gln) | TP53 | 17 | 7,676,584 | 7,676,584 | Likely benign | G | T | false | reverse | 10,906 |
1,251 | 1,251 | 1,147,714 | NM_000546.6(TP53):c.12G>C (p.Pro4=) | TP53 | 17 | 7,676,583 | 7,676,583 | Likely benign | C | G | false | reverse | 10,907 |
1,213 | 1,213 | 1,083,635 | NM_000546.6(TP53):c.12G>T (p.Pro4=) | TP53 | 17 | 7,676,583 | 7,676,583 | Likely benign | C | A | false | reverse | 10,907 |
350 | 350 | 236,522 | NM_000546.6(TP53):c.12G>A (p.Pro4=) | TP53 | 17 | 7,676,583 | 7,676,583 | Likely benign | C | T | false | reverse | 10,907 |
1,236 | 1,236 | 1,126,815 | NM_000546.6(TP53):c.15G>A (p.Gln5=) | TP53 | 17 | 7,676,580 | 7,676,580 | Likely benign | C | T | false | reverse | 10,910 |
597 | 597 | 403,047 | NM_000546.6(TP53):c.18A>G (p.Ser6=) | TP53 | 17 | 7,676,577 | 7,676,577 | Likely benign | T | C | false | reverse | 10,913 |
171 | 171 | 181,034 | NM_000546.6(TP53):c.18A>C (p.Ser6=) | TP53 | 17 | 7,676,577 | 7,676,577 | Benign/Likely benign | T | G | false | reverse | 10,913 |
741 | 741 | 479,373 | NM_000546.6(TP53):c.21T>G (p.Asp7Glu) | TP53 | 17 | 7,676,574 | 7,676,574 | Likely benign | A | C | false | reverse | 10,916 |
82 | 82 | 150,496 | NM_000546.6(TP53):c.21T>A (p.Asp7Glu) | TP53 | 17 | 7,676,574 | 7,676,574 | Likely benign | A | T | false | reverse | 10,916 |
348 | 348 | 236,520 | NM_000546.6(TP53):c.23C>T (p.Pro8Leu) | TP53 | 17 | 7,676,572 | 7,676,572 | Likely benign | G | A | false | reverse | 10,918 |
1,444 | 1,444 | 1,841,606 | NM_000546.6(TP53):c.23C>G (p.Pro8Arg) | TP53 | 17 | 7,676,572 | 7,676,572 | Likely benign | G | C | false | reverse | 10,918 |
275 | 275 | 213,407 | NM_000546.6(TP53):c.27C>T (p.Ser9=) | TP53 | 17 | 7,676,568 | 7,676,568 | Likely benign | G | A | false | reverse | 10,922 |
48 | 48 | 133,263 | NM_000546.6(TP53):c.28G>A (p.Val10Ile) | TP53 | 17 | 7,676,567 | 7,676,567 | Likely benign | C | T | false | reverse | 10,923 |
347 | 347 | 236,519 | NM_000546.6(TP53):c.28G>C (p.Val10Leu) | TP53 | 17 | 7,676,567 | 7,676,567 | Likely benign | C | G | false | reverse | 10,923 |
672 | 672 | 468,416 | NM_000546.6(TP53):c.30C>G (p.Val10=) | TP53 | 17 | 7,676,565 | 7,676,565 | Likely benign | G | C | false | reverse | 10,925 |
251 | 251 | 185,424 | NM_000546.6(TP53):c.30C>T (p.Val10=) | TP53 | 17 | 7,676,565 | 7,676,565 | Benign/Likely benign | G | A | false | reverse | 10,925 |
1,355 | 1,355 | 1,624,432 | NM_000546.6(TP53):c.33G>A (p.Glu11=) | TP53 | 17 | 7,676,562 | 7,676,562 | Likely benign | C | T | false | reverse | 10,928 |
1,235 | 1,235 | 1,126,814 | NM_000546.6(TP53):c.36C>T (p.Pro12=) | TP53 | 17 | 7,676,559 | 7,676,559 | Likely benign | G | A | false | reverse | 10,931 |
716 | 716 | 479,301 | NM_000546.6(TP53):c.39T>G (p.Pro13=) | TP53 | 17 | 7,676,556 | 7,676,556 | Likely benign | A | C | false | reverse | 10,934 |
1,212 | 1,212 | 1,083,634 | NM_000546.6(TP53):c.40C>T (p.Leu14=) | TP53 | 17 | 7,676,555 | 7,676,555 | Likely benign | G | A | false | reverse | 10,935 |
1,098 | 1,098 | 814,524 | NM_000546.6(TP53):c.42G>A (p.Leu14=) | TP53 | 17 | 7,676,553 | 7,676,553 | Likely benign | C | T | false | reverse | 10,937 |
250 | 250 | 185,423 | NM_000546.6(TP53):c.42G>C (p.Leu14=) | TP53 | 17 | 7,676,553 | 7,676,553 | Likely benign | C | G | false | reverse | 10,937 |
584 | 584 | 402,607 | NM_000546.6(TP53):c.45T>C (p.Ser15=) | TP53 | 17 | 7,676,550 | 7,676,550 | Likely benign | A | G | false | reverse | 10,940 |
346 | 346 | 236,517 | NM_000546.6(TP53):c.54A>G (p.Thr18=) | TP53 | 17 | 7,676,541 | 7,676,541 | Likely benign | T | C | false | reverse | 10,949 |
1,038 | 1,038 | 771,861 | NM_000546.6(TP53):c.57T>C (p.Phe19=) | TP53 | 17 | 7,676,538 | 7,676,538 | Likely benign | A | G | false | reverse | 10,952 |
249 | 249 | 185,422 | NM_000546.6(TP53):c.60A>G (p.Ser20=) | TP53 | 17 | 7,676,535 | 7,676,535 | Likely benign | T | C | false | reverse | 10,955 |
1,037 | 1,037 | 771,860 | NM_000546.6(TP53):c.60A>T (p.Ser20=) | TP53 | 17 | 7,676,535 | 7,676,535 | Likely benign | T | A | false | reverse | 10,955 |
1,423 | 1,423 | 1,822,692 | NM_000546.6(TP53):c.72A>G (p.Lys24=) | TP53 | 17 | 7,676,523 | 7,676,523 | Likely benign | T | C | false | reverse | 10,967 |
1,040 | 1,040 | 776,405 | NM_000546.6(TP53):c.74+7G>T | TP53 | 17 | 7,676,514 | 7,676,514 | Likely benign | C | A | false | reverse | 10,976 |
664 | 664 | 467,568 | NM_000546.6(TP53):c.74+8G>A | TP53 | 17 | 7,676,513 | 7,676,513 | Likely benign | C | T | false | reverse | 10,977 |
1,222 | 1,222 | 1,105,429 | NM_000546.6(TP53):c.74+10T>G | TP53 | 17 | 7,676,511 | 7,676,511 | Likely benign | A | C | false | reverse | 10,979 |
1,166 | 1,166 | 916,590 | NM_000546.6(TP53):c.74+12C>T | TP53 | 17 | 7,676,509 | 7,676,509 | Likely benign | G | A | false | reverse | 10,981 |
391 | 391 | 358,967 | NM_000546.6(TP53):c.74+14T>C | TP53 | 17 | 7,676,507 | 7,676,507 | Benign/Likely benign | A | G | false | reverse | 10,983 |
1,501 | 1,501 | 2,125,777 | NM_000546.6(TP53):c.74+14T>A | TP53 | 17 | 7,676,507 | 7,676,507 | Likely benign | A | T | false | reverse | 10,983 |
1,347 | 1,347 | 1,608,566 | NM_000546.6(TP53):c.74+17G>A | TP53 | 17 | 7,676,504 | 7,676,504 | Likely benign | C | T | false | reverse | 10,986 |
1,468 | 1,468 | 1,956,738 | NM_000546.6(TP53):c.74+20G>A | TP53 | 17 | 7,676,501 | 7,676,501 | Likely benign | C | T | false | reverse | 10,989 |
789 | 789 | 485,177 | NM_000546.6(TP53):c.74+22G>A | TP53 | 17 | 7,676,499 | 7,676,499 | Likely benign | C | T | false | reverse | 10,991 |
1,366 | 1,366 | 1,688,817 | NM_000546.6(TP53):c.74+23C>T | TP53 | 17 | 7,676,498 | 7,676,498 | Likely benign | G | A | false | reverse | 10,992 |
1,169 | 1,169 | 916,755 | NM_000546.6(TP53):c.74+24A>C | TP53 | 17 | 7,676,497 | 7,676,497 | Likely benign | T | G | false | reverse | 10,993 |
823 | 823 | 485,405 | NM_000546.6(TP53):c.74+27C>G | TP53 | 17 | 7,676,494 | 7,676,494 | Likely benign | G | C | false | reverse | 10,996 |
1,165 | 1,165 | 916,589 | NM_000546.6(TP53):c.74+28C>G | TP53 | 17 | 7,676,493 | 7,676,493 | Likely benign | G | C | false | reverse | 10,997 |
1,164 | 1,164 | 916,587 | NM_000546.6(TP53):c.74+30A>G | TP53 | 17 | 7,676,491 | 7,676,491 | Likely benign | T | C | false | reverse | 10,999 |
947 | 947 | 619,780 | NM_000546.6(TP53):c.74+32C>G | TP53 | 17 | 7,676,489 | 7,676,489 | Likely benign | G | C | false | reverse | 11,001 |
926 | 926 | 619,652 | NM_000546.6(TP53):c.74+34C>A | TP53 | 17 | 7,676,487 | 7,676,487 | Likely benign | G | T | false | reverse | 11,003 |
822 | 822 | 485,396 | NM_000546.6(TP53):c.74+35C>T | TP53 | 17 | 7,676,486 | 7,676,486 | Likely benign | G | A | false | reverse | 11,004 |
813 | 813 | 485,354 | NM_000546.6(TP53):c.74+37C>T | TP53 | 17 | 7,676,484 | 7,676,484 | Likely benign | G | A | false | reverse | 11,006 |
80 | 80 | 141,394 | NM_000546.6(TP53):c.74+38C>G | TP53 | 17 | 7,676,483 | 7,676,483 | Benign | G | C | false | reverse | 11,007 |
840 | 840 | 485,534 | NM_000546.6(TP53):c.74+38C>A | TP53 | 17 | 7,676,483 | 7,676,483 | Benign | G | T | false | reverse | 11,007 |
839 | 839 | 485,531 | NM_000546.6(TP53):c.74+41C>T | TP53 | 17 | 7,676,480 | 7,676,480 | Likely benign | G | A | false | reverse | 11,010 |
810 | 810 | 485,344 | NM_000546.6(TP53):c.74+44A>G | TP53 | 17 | 7,676,477 | 7,676,477 | Likely benign | T | C | false | reverse | 11,013 |
1,148 | 1,148 | 916,052 | NM_000546.6(TP53):c.74+46C>A | TP53 | 17 | 7,676,475 | 7,676,475 | Likely benign | G | T | false | reverse | 11,015 |
1,367 | 1,367 | 1,690,021 | NM_000546.6(TP53):c.74+46C>T | TP53 | 17 | 7,676,475 | 7,676,475 | Likely benign | G | A | false | reverse | 11,015 |
1,147 | 1,147 | 916,050 | NM_000546.6(TP53):c.74+48C>T | TP53 | 17 | 7,676,473 | 7,676,473 | Likely benign | G | A | false | reverse | 11,017 |
937 | 937 | 619,762 | NM_000546.6(TP53):c.74+54C>T | TP53 | 17 | 7,676,467 | 7,676,467 | Likely benign | G | A | false | reverse | 11,023 |
788 | 788 | 485,169 | NM_000546.6(TP53):c.74+56C>G | TP53 | 17 | 7,676,465 | 7,676,465 | Likely benign | G | C | false | reverse | 11,025 |
838 | 838 | 485,529 | NM_000546.6(TP53):c.74+59G>C | TP53 | 17 | 7,676,462 | 7,676,462 | Likely benign | C | G | false | reverse | 11,028 |
807 | 807 | 485,339 | NM_000546.6(TP53):c.75-56G>T | TP53 | 17 | 7,676,459 | 7,676,459 | Likely benign | C | A | false | reverse | 11,031 |
787 | 787 | 485,164 | NM_000546.6(TP53):c.75-54G>A | TP53 | 17 | 7,676,457 | 7,676,457 | Likely benign | C | T | false | reverse | 11,033 |
821 | 821 | 485,391 | NM_000546.6(TP53):c.75-49G>T | TP53 | 17 | 7,676,452 | 7,676,452 | Likely benign | C | A | false | reverse | 11,038 |
946 | 946 | 619,779 | NM_000546.6(TP53):c.75-47G>A | TP53 | 17 | 7,676,450 | 7,676,450 | Likely benign | C | T | false | reverse | 11,040 |
945 | 945 | 619,777 | NM_000546.6(TP53):c.75-43A>C | TP53 | 17 | 7,676,446 | 7,676,446 | Likely benign | T | G | false | reverse | 11,044 |
820 | 820 | 485,390 | NM_000546.6(TP53):c.75-42G>T | TP53 | 17 | 7,676,445 | 7,676,445 | Likely benign | C | A | false | reverse | 11,045 |
819 | 819 | 485,378 | NM_000546.6(TP53):c.75-41C>T | TP53 | 17 | 7,676,444 | 7,676,444 | Likely benign | G | A | false | reverse | 11,046 |
818 | 818 | 485,377 | NM_000546.6(TP53):c.75-40G>A | TP53 | 17 | 7,676,443 | 7,676,443 | Likely benign | C | T | false | reverse | 11,047 |
944 | 944 | 619,772 | NM_000546.6(TP53):c.75-32C>T | TP53 | 17 | 7,676,435 | 7,676,435 | Likely benign | G | A | false | reverse | 11,055 |
925 | 925 | 619,649 | NM_000546.6(TP53):c.75-31A>G | TP53 | 17 | 7,676,434 | 7,676,434 | Likely benign | T | C | false | reverse | 11,056 |
943 | 943 | 619,770 | NM_000546.6(TP53):c.75-30T>C | TP53 | 17 | 7,676,433 | 7,676,433 | Likely benign | A | G | false | reverse | 11,057 |
837 | 837 | 485,527 | NM_000546.6(TP53):c.75-27G>A | TP53 | 17 | 7,676,430 | 7,676,430 | Likely benign | C | T | false | reverse | 11,060 |
1,587 | 1,587 | 2,983,993 | NM_000546.6(TP53):c.75-20T>C | TP53 | 17 | 7,676,423 | 7,676,423 | Likely benign | A | G | false | reverse | 11,067 |
1,314 | 1,314 | 1,523,020 | NM_000546.6(TP53):c.75-19T>A | TP53 | 17 | 7,676,422 | 7,676,422 | Likely benign | A | T | false | reverse | 11,068 |
804 | 804 | 485,333 | NM_000546.6(TP53):c.75-18T>G | TP53 | 17 | 7,676,421 | 7,676,421 | Benign/Likely benign | A | C | false | reverse | 11,069 |
836 | 836 | 485,526 | NM_000546.6(TP53):c.75-17C>A | TP53 | 17 | 7,676,420 | 7,676,420 | Likely benign | G | T | false | reverse | 11,070 |
1,350 | 1,350 | 1,613,893 | NM_000546.6(TP53):c.75-16T>G | TP53 | 17 | 7,676,419 | 7,676,419 | Likely benign | A | C | false | reverse | 11,071 |
1,331 | 1,331 | 1,572,917 | NM_000546.6(TP53):c.75-15G>A | TP53 | 17 | 7,676,418 | 7,676,418 | Likely benign | C | T | false | reverse | 11,072 |
535 | 535 | 376,631 | NM_000546.6(TP53):c.75-14C>T | TP53 | 17 | 7,676,417 | 7,676,417 | Likely benign | G | A | false | reverse | 11,073 |
786 | 786 | 485,162 | NM_000546.6(TP53):c.75-12C>A | TP53 | 17 | 7,676,415 | 7,676,415 | Likely benign | G | T | false | reverse | 11,075 |
1,558 | 1,558 | 2,891,412 | NM_000546.6(TP53):c.75-11T>C | TP53 | 17 | 7,676,414 | 7,676,414 | Likely benign | A | G | false | reverse | 11,076 |
1,553 | 1,553 | 2,860,805 | NM_000546.6(TP53):c.75-10T>C | TP53 | 17 | 7,676,413 | 7,676,413 | Likely benign | A | G | false | reverse | 11,077 |
639 | 639 | 420,680 | NM_000546.6(TP53):c.75-2A>G | TP53 | 17 | 7,676,405 | 7,676,405 | Likely pathogenic | T | C | true | reverse | 11,085 |
1,200 | 1,200 | 1,056,475 | NM_000546.6(TP53):c.75-1G>A | TP53 | 17 | 7,676,404 | 7,676,404 | Likely pathogenic | C | T | true | reverse | 11,086 |
1,258 | 1,258 | 1,174,983 | NM_000546.6(TP53):c.75-1G>T | TP53 | 17 | 7,676,404 | 7,676,404 | not provided | C | A | false | reverse | 11,086 |
714 | 714 | 479,297 | NM_000546.6(TP53):c.78T>C (p.Leu26=) | TP53 | 17 | 7,676,400 | 7,676,400 | Likely benign | A | G | false | reverse | 11,090 |
1,408 | 1,408 | 1,816,839 | NM_000546.6(TP53):c.81T>G (p.Pro27=) | TP53 | 17 | 7,676,397 | 7,676,397 | Likely benign | A | C | false | reverse | 11,093 |
855 | 855 | 506,434 | NM_000546.6(TP53):c.81T>C (p.Pro27=) | TP53 | 17 | 7,676,397 | 7,676,397 | Likely benign | A | G | false | reverse | 11,093 |
1,097 | 1,097 | 814,522 | NM_000546.6(TP53):c.85A>G (p.Asn29Asp) | TP53 | 17 | 7,676,393 | 7,676,393 | Likely benign | T | C | false | reverse | 11,097 |
1,405 | 1,405 | 1,814,538 | NM_000546.6(TP53):c.87C>T (p.Asn29=) | TP53 | 17 | 7,676,391 | 7,676,391 | Likely benign | G | A | false | reverse | 11,099 |
274 | 274 | 213,406 | NM_000546.6(TP53):c.90C>T (p.Asn30=) | TP53 | 17 | 7,676,388 | 7,676,388 | Likely benign | G | A | false | reverse | 11,102 |
1,498 | 1,498 | 2,100,231 | NM_000546.6(TP53):c.93T>A (p.Val31=) | TP53 | 17 | 7,676,385 | 7,676,385 | Likely benign | A | T | false | reverse | 11,105 |
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