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
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
32 | 32 | 52,756 | NM_000546.6(TP53):c.1040C>A (p.Ala347Asp) | TP53 | 17 | 7,670,669 | 7,670,669 | Likely pathogenic | G | T | true | reverse | 16,821 |
1,550 | 1,550 | 2,844,772 | NM_000546.6(TP53):c.1040C>G (p.Ala347Gly) | TP53 | 17 | 7,670,669 | 7,670,669 | Likely benign | G | C | false | reverse | 16,821 |
1,214 | 1,214 | 1,105,421 | NM_000546.6(TP53):c.1041C>T (p.Ala347=) | TP53 | 17 | 7,670,668 | 7,670,668 | Likely benign | G | A | false | reverse | 16,822 |
703 | 703 | 479,271 | NM_000546.6(TP53):c.1041C>G (p.Ala347=) | TP53 | 17 | 7,670,668 | 7,670,668 | Likely benign | G | C | false | reverse | 16,822 |
1,559 | 1,559 | 2,898,484 | NM_000546.6(TP53):c.1044G>A (p.Leu348=) | TP53 | 17 | 7,670,665 | 7,670,665 | Likely benign | C | T | false | reverse | 16,825 |
952 | 952 | 622,572 | NM_000546.6(TP53):c.1045G>T (p.Glu349Ter) | TP53 | 17 | 7,670,664 | 7,670,664 | Pathogenic | C | A | true | reverse | 16,826 |
1,432 | 1,432 | 1,830,620 | NM_000546.6(TP53):c.1046A>G (p.Glu349Gly) | TP53 | 17 | 7,670,663 | 7,670,663 | Likely benign | T | C | false | reverse | 16,827 |
1,436 | 1,436 | 1,834,229 | NM_000546.6(TP53):c.1050C>T (p.Leu350=) | TP53 | 17 | 7,670,659 | 7,670,659 | Likely benign | G | A | false | reverse | 16,831 |
1,513 | 1,513 | 2,404,597 | NM_000546.6(TP53):c.1051A>T (p.Lys351Ter) | TP53 | 17 | 7,670,658 | 7,670,658 | Pathogenic | T | A | true | reverse | 16,832 |
1,433 | 1,433 | 1,831,343 | NM_000546.6(TP53):c.1056T>G (p.Asp352Glu) | TP53 | 17 | 7,670,653 | 7,670,653 | Likely benign | A | C | false | reverse | 16,837 |
1,431 | 1,431 | 1,828,618 | NM_000546.6(TP53):c.1059C>A (p.Ala353=) | TP53 | 17 | 7,670,650 | 7,670,650 | Likely benign | G | T | false | reverse | 16,840 |
293 | 293 | 236,444 | NM_000546.6(TP53):c.1060C>A (p.Gln354Lys) | TP53 | 17 | 7,670,649 | 7,670,649 | Likely benign | G | T | false | reverse | 16,841 |
673 | 673 | 468,853 | NM_000546.6(TP53):c.1060C>T (p.Gln354Ter) | TP53 | 17 | 7,670,649 | 7,670,649 | Likely pathogenic | G | A | true | reverse | 16,841 |
1,628 | 1,628 | 3,385,587 | NM_000546.6(TP53):c.1061A>T (p.Gln354Leu) | TP53 | 17 | 7,670,648 | 7,670,648 | Benign | T | A | false | reverse | 16,842 |
701 | 701 | 479,264 | NM_000546.6(TP53):c.1062G>A (p.Gln354=) | TP53 | 17 | 7,670,647 | 7,670,647 | Likely benign | C | T | false | reverse | 16,843 |
1,439 | 1,439 | 1,839,353 | NM_000546.6(TP53):c.1063G>A (p.Ala355Thr) | TP53 | 17 | 7,670,646 | 7,670,646 | Likely benign | C | T | false | reverse | 16,844 |
526 | 526 | 376,579 | NM_000546.6(TP53):c.1065T>C (p.Ala355=) | TP53 | 17 | 7,670,644 | 7,670,644 | Likely benign | A | G | false | reverse | 16,846 |
292 | 292 | 236,443 | NM_000546.6(TP53):c.1066G>C (p.Gly356Arg) | TP53 | 17 | 7,670,643 | 7,670,643 | Likely benign | C | G | false | reverse | 16,847 |
1,554 | 1,554 | 2,861,648 | NM_000546.6(TP53):c.1068G>C (p.Gly356=) | TP53 | 17 | 7,670,641 | 7,670,641 | Likely benign | C | G | false | reverse | 16,849 |
791 | 791 | 485,293 | NM_000546.6(TP53):c.1077A>G (p.Pro359=) | TP53 | 17 | 7,670,632 | 7,670,632 | Likely benign | T | C | false | reverse | 16,858 |
1,567 | 1,567 | 2,912,220 | NM_000546.6(TP53):c.1077A>C (p.Pro359=) | TP53 | 17 | 7,670,632 | 7,670,632 | Likely benign | T | G | false | reverse | 16,858 |
113 | 113 | 151,717 | NM_000546.6(TP53):c.1079G>C (p.Gly360Ala) | TP53 | 17 | 7,670,630 | 7,670,630 | Likely benign | C | G | false | reverse | 16,860 |
1,475 | 1,475 | 2,022,836 | NM_000546.6(TP53):c.1080G>A (p.Gly360=) | TP53 | 17 | 7,670,629 | 7,670,629 | Likely benign | C | T | false | reverse | 16,861 |
1,293 | 1,293 | 1,367,346 | NM_000546.6(TP53):c.1080G>T (p.Gly360=) | TP53 | 17 | 7,670,629 | 7,670,629 | Likely benign | C | A | false | reverse | 16,861 |
1,322 | 1,322 | 1,539,111 | NM_000546.6(TP53):c.1080G>C (p.Gly360=) | TP53 | 17 | 7,670,629 | 7,670,629 | Likely benign | C | G | false | reverse | 16,861 |
370 | 370 | 256,461 | NM_000546.6(TP53):c.1083G>A (p.Gly361=) | TP53 | 17 | 7,670,626 | 7,670,626 | Likely benign | C | T | false | reverse | 16,864 |
1,472 | 1,472 | 2,012,273 | NM_000546.6(TP53):c.1083G>T (p.Gly361=) | TP53 | 17 | 7,670,626 | 7,670,626 | Likely benign | C | A | false | reverse | 16,864 |
1,062 | 1,062 | 814,446 | NM_000546.6(TP53):c.1089G>A (p.Arg363=) | TP53 | 17 | 7,670,620 | 7,670,620 | Likely benign | C | T | false | reverse | 16,870 |
39 | 39 | 91,599 | NM_000546.6(TP53):c.1093C>T (p.His365Tyr) | TP53 | 17 | 7,670,616 | 7,670,616 | Likely benign | G | A | false | reverse | 16,874 |
1,226 | 1,226 | 1,126,805 | NM_000546.6(TP53):c.1095C>T (p.His365=) | TP53 | 17 | 7,670,614 | 7,670,614 | Likely benign | G | A | false | reverse | 16,876 |
76 | 76 | 139,099 | NM_000546.6(TP53):c.1096T>G (p.Ser366Ala) | TP53 | 17 | 7,670,613 | 7,670,613 | Likely benign | A | C | false | reverse | 16,877 |
1,625 | 1,625 | 3,307,681 | NM_000546.6(TP53):c.1100+1G>T | TP53 | 17 | 7,670,608 | 7,670,608 | Likely pathogenic | C | A | true | reverse | 16,882 |
1,291 | 1,291 | 1,359,715 | NM_000546.6(TP53):c.1100+2T>A | TP53 | 17 | 7,670,607 | 7,670,607 | Likely pathogenic | A | T | true | reverse | 16,883 |
517 | 517 | 375,715 | NM_000546.6(TP53):c.1100+3G>C | TP53 | 17 | 7,670,606 | 7,670,606 | Likely benign | C | G | false | reverse | 16,884 |
880 | 880 | 532,177 | NM_000546.6(TP53):c.1100+7G>A | TP53 | 17 | 7,670,602 | 7,670,602 | Likely benign | C | T | false | reverse | 16,888 |
1,225 | 1,225 | 1,126,804 | NM_000546.6(TP53):c.1100+9C>A | TP53 | 17 | 7,670,600 | 7,670,600 | Likely benign | G | T | false | reverse | 16,890 |
665 | 665 | 468,356 | NM_000546.6(TP53):c.1100+10C>T | TP53 | 17 | 7,670,599 | 7,670,599 | Likely benign | G | A | false | reverse | 16,891 |
586 | 586 | 402,996 | NM_000546.6(TP53):c.1100+10C>A | TP53 | 17 | 7,670,599 | 7,670,599 | Likely benign | G | T | false | reverse | 16,891 |
927 | 927 | 619,737 | NM_000546.6(TP53):c.1100+12C>G | TP53 | 17 | 7,670,597 | 7,670,597 | Likely benign | G | C | false | reverse | 16,893 |
1,329 | 1,329 | 1,563,590 | NM_000546.6(TP53):c.1100+14G>A | TP53 | 17 | 7,670,595 | 7,670,595 | Likely benign | C | T | false | reverse | 16,895 |
825 | 825 | 485,504 | NM_000546.6(TP53):c.1100+15C>T | TP53 | 17 | 7,670,594 | 7,670,594 | Likely benign | G | A | false | reverse | 16,896 |
516 | 516 | 375,714 | NM_000546.6(TP53):c.1100+16C>T | TP53 | 17 | 7,670,593 | 7,670,593 | Likely benign | G | A | false | reverse | 16,897 |
1,604 | 1,604 | 3,072,287 | NM_000546.6(TP53):c.1100+20T>C | TP53 | 17 | 7,670,589 | 7,670,589 | Likely benign | A | G | false | reverse | 16,901 |
1,156 | 1,156 | 916,568 | NM_000546.6(TP53):c.1100+20T>G | TP53 | 17 | 7,670,589 | 7,670,589 | Likely benign | A | C | false | reverse | 16,901 |
1,058 | 1,058 | 800,071 | NM_000546.6(TP53):c.1100+30A>T | TP53 | 17 | 7,670,579 | 7,670,579 | Benign/Likely benign | T | A | false | reverse | 16,911 |
1,368 | 1,368 | 1,690,058 | NM_000546.6(TP53):c.1100+31C>T | TP53 | 17 | 7,670,578 | 7,670,578 | Likely benign | G | A | false | reverse | 16,912 |
1,277 | 1,277 | 1,260,498 | NM_000546.6(TP53):c.1101-221G>A | TP53 | 17 | 7,669,911 | 7,669,911 | Benign | C | T | false | reverse | 17,579 |
1,276 | 1,276 | 1,259,437 | NM_000546.6(TP53):c.1101-49C>T | TP53 | 17 | 7,669,739 | 7,669,739 | Benign | G | A | false | reverse | 17,751 |
1,596 | 1,596 | 3,014,855 | NM_000546.6(TP53):c.1101-20C>T | TP53 | 17 | 7,669,710 | 7,669,710 | Likely benign | G | A | false | reverse | 17,780 |
1,325 | 1,325 | 1,549,187 | NM_000546.6(TP53):c.1101-17G>A | TP53 | 17 | 7,669,707 | 7,669,707 | Likely benign | C | T | false | reverse | 17,783 |
1,324 | 1,324 | 1,544,089 | NM_000546.6(TP53):c.1101-15T>C | TP53 | 17 | 7,669,705 | 7,669,705 | Likely benign | A | G | false | reverse | 17,785 |
1,155 | 1,155 | 916,565 | NM_000546.6(TP53):c.1101-13C>T | TP53 | 17 | 7,669,703 | 7,669,703 | Likely benign | G | A | false | reverse | 17,787 |
1,569 | 1,569 | 2,915,456 | NM_000546.6(TP53):c.1101-10T>C | TP53 | 17 | 7,669,700 | 7,669,700 | Likely benign | A | G | false | reverse | 17,790 |
1,224 | 1,224 | 1,126,803 | NM_000546.6(TP53):c.1101-8T>A | TP53 | 17 | 7,669,698 | 7,669,698 | Likely benign | A | T | false | reverse | 17,792 |
1,039 | 1,039 | 776,404 | NM_000546.6(TP53):c.1101-7C>T | TP53 | 17 | 7,669,697 | 7,669,697 | Likely benign | G | A | false | reverse | 17,793 |
1,571 | 1,571 | 2,929,912 | NM_000546.6(TP53):c.1101-6C>G | TP53 | 17 | 7,669,696 | 7,669,696 | Likely benign | G | C | false | reverse | 17,794 |
95 | 95 | 151,046 | NM_000546.6(TP53):c.1101-2A>G | TP53 | 17 | 7,669,692 | 7,669,692 | Pathogenic/Likely pathogenic | T | C | true | reverse | 17,798 |
1,275 | 1,275 | 1,254,255 | NM_000546.6(TP53):c.1101-2A>T | TP53 | 17 | 7,669,692 | 7,669,692 | not provided | T | A | false | reverse | 17,798 |
983 | 983 | 623,207 | NM_000546.6(TP53):c.1101-2A>C | TP53 | 17 | 7,669,692 | 7,669,692 | not provided | T | G | false | reverse | 17,798 |
290 | 290 | 236,438 | NM_000546.6(TP53):c.1101-1G>A | TP53 | 17 | 7,669,691 | 7,669,691 | Pathogenic/Likely pathogenic | C | T | true | reverse | 17,799 |
1,460 | 1,460 | 1,858,744 | NM_000546.6(TP53):c.1101-1G>C | TP53 | 17 | 7,669,691 | 7,669,691 | Pathogenic | C | G | true | reverse | 17,799 |
253 | 253 | 186,272 | NM_000546.6(TP53):c.1102C>T (p.His368Tyr) | TP53 | 17 | 7,669,689 | 7,669,689 | Likely benign | G | A | false | reverse | 17,801 |
707 | 707 | 479,279 | NM_000546.6(TP53):c.1104C>T (p.His368=) | TP53 | 17 | 7,669,687 | 7,669,687 | Likely benign | G | A | false | reverse | 17,803 |
1,223 | 1,223 | 1,126,802 | NM_000546.6(TP53):c.1107G>A (p.Leu369=) | TP53 | 17 | 7,669,684 | 7,669,684 | Likely benign | C | T | false | reverse | 17,806 |
914 | 914 | 618,827 | NM_000546.6(TP53):c.1110G>A (p.Lys370=) | TP53 | 17 | 7,669,681 | 7,669,681 | Likely benign | C | T | false | reverse | 17,809 |
1,132 | 1,132 | 914,174 | NM_000546.6(TP53):c.1113C>T (p.Ser371=) | TP53 | 17 | 7,669,678 | 7,669,678 | Likely benign | G | A | false | reverse | 17,812 |
913 | 913 | 618,826 | NM_000546.6(TP53):c.1119G>A (p.Lys373=) | TP53 | 17 | 7,669,672 | 7,669,672 | Likely benign | C | T | false | reverse | 17,818 |
288 | 288 | 236,436 | NM_000546.6(TP53):c.1120G>C (p.Gly374Arg) | TP53 | 17 | 7,669,671 | 7,669,671 | Likely benign | C | G | false | reverse | 17,819 |
1,455 | 1,455 | 1,853,557 | NM_000546.6(TP53):c.1121G>T (p.Gly374Val) | TP53 | 17 | 7,669,670 | 7,669,670 | Likely benign | C | A | false | reverse | 17,820 |
1,459 | 1,459 | 1,856,525 | NM_000546.6(TP53):c.1123C>A (p.Gln375Lys) | TP53 | 17 | 7,669,668 | 7,669,668 | Likely benign | G | T | false | reverse | 17,822 |
912 | 912 | 618,825 | NM_000546.6(TP53):c.1125G>A (p.Gln375=) | TP53 | 17 | 7,669,666 | 7,669,666 | Likely benign | C | T | false | reverse | 17,824 |
860 | 860 | 507,160 | NM_000546.6(TP53):c.1131C>A (p.Thr377=) | TP53 | 17 | 7,669,660 | 7,669,660 | Likely benign | G | T | false | reverse | 17,830 |
1,026 | 1,026 | 756,155 | NM_000546.6(TP53):c.1131C>T (p.Thr377=) | TP53 | 17 | 7,669,660 | 7,669,660 | Likely benign | G | A | false | reverse | 17,830 |
560 | 560 | 402,527 | NM_000546.6(TP53):c.1134C>T (p.Ser378=) | TP53 | 17 | 7,669,657 | 7,669,657 | Likely benign | G | A | false | reverse | 17,833 |
176 | 176 | 185,334 | NM_000546.6(TP53):c.1135C>A (p.Arg379Ser) | TP53 | 17 | 7,669,656 | 7,669,656 | Likely benign | G | T | false | reverse | 17,834 |
256 | 256 | 213,384 | NM_000546.6(TP53):c.1136G>T (p.Arg379Leu) | TP53 | 17 | 7,669,655 | 7,669,655 | Likely benign | C | A | false | reverse | 17,835 |
361 | 361 | 245,067 | NM_000546.6(TP53):c.1136G>A (p.Arg379His) | TP53 | 17 | 7,669,655 | 7,669,655 | Likely benign | C | T | false | reverse | 17,835 |
174 | 174 | 185,332 | NM_000546.6(TP53):c.1137C>T (p.Arg379=) | TP53 | 17 | 7,669,654 | 7,669,654 | Likely benign | G | A | false | reverse | 17,836 |
173 | 173 | 185,331 | NM_000546.6(TP53):c.1149C>T (p.Leu383=) | TP53 | 17 | 7,669,642 | 7,669,642 | Benign/Likely benign | G | A | false | reverse | 17,848 |
696 | 696 | 479,242 | NM_000546.6(TP53):c.1149C>A (p.Leu383=) | TP53 | 17 | 7,669,642 | 7,669,642 | Likely benign | G | T | false | reverse | 17,848 |
148 | 148 | 180,986 | NM_000546.6(TP53):c.1150A>G (p.Met384Val) | TP53 | 17 | 7,669,641 | 7,669,641 | Likely benign | T | C | false | reverse | 17,849 |
585 | 585 | 402,994 | NM_000546.6(TP53):c.1151T>C (p.Met384Thr) | TP53 | 17 | 7,669,640 | 7,669,640 | Likely benign | A | G | false | reverse | 17,850 |
690 | 690 | 479,204 | NM_000546.6(TP53):c.1153T>C (p.Phe385Leu) | TP53 | 17 | 7,669,638 | 7,669,638 | Likely benign | A | G | false | reverse | 17,852 |
1,380 | 1,380 | 1,793,485 | NM_000546.6(TP53):c.1155C>T (p.Phe385=) | TP53 | 17 | 7,669,636 | 7,669,636 | Likely benign | G | A | false | reverse | 17,854 |
1,379 | 1,379 | 1,793,421 | NM_000546.6(TP53):c.1155C>A (p.Phe385Leu) | TP53 | 17 | 7,669,636 | 7,669,636 | Likely benign | G | T | false | reverse | 17,854 |
1,602 | 1,602 | 3,034,368 | NM_000546.6(TP53):c.1158G>A (p.Lys386=) | TP53 | 17 | 7,669,633 | 7,669,633 | Likely benign | C | T | false | reverse | 17,857 |
1,543 | 1,543 | 2,753,442 | NM_000546.6(TP53):c.1159A>C (p.Thr387Pro) | TP53 | 17 | 7,669,632 | 7,669,632 | Likely benign | T | G | false | reverse | 17,858 |
620 | 620 | 420,631 | NM_000546.6(TP53):c.1161A>G (p.Thr387=) | TP53 | 17 | 7,669,630 | 7,669,630 | Likely benign | T | C | false | reverse | 17,860 |
1,376 | 1,376 | 1,790,490 | NM_000546.6(TP53):c.1162G>C (p.Glu388Gln) | TP53 | 17 | 7,669,629 | 7,669,629 | Likely benign | C | G | false | reverse | 17,861 |
98 | 98 | 151,139 | NM_000546.6(TP53):c.1163A>C (p.Glu388Ala) | TP53 | 17 | 7,669,628 | 7,669,628 | Likely benign | T | G | false | reverse | 17,862 |
1,372 | 1,372 | 1,787,548 | NM_000546.6(TP53):c.1164A>T (p.Glu388Asp) | TP53 | 17 | 7,669,627 | 7,669,627 | Likely benign | T | A | false | reverse | 17,863 |
1,031 | 1,031 | 771,854 | NM_000546.6(TP53):c.1167G>T (p.Gly389=) | TP53 | 17 | 7,669,624 | 7,669,624 | Likely benign | C | A | false | reverse | 17,866 |
1,510 | 1,510 | 2,187,624 | NM_000546.6(TP53):c.1170T>G (p.Pro390=) | TP53 | 17 | 7,669,621 | 7,669,621 | Likely benign | A | C | false | reverse | 17,869 |
1,330 | 1,330 | 1,571,780 | NM_000546.6(TP53):c.1173C>T (p.Asp391=) | TP53 | 17 | 7,669,618 | 7,669,618 | Likely benign | G | A | false | reverse | 17,872 |
1,396 | 1,396 | 1,808,497 | NM_000546.6(TP53):c.1177G>T (p.Asp393Tyr) | TP53 | 17 | 7,669,614 | 7,669,614 | Likely benign | C | A | false | reverse | 17,876 |
1,323 | 1,323 | 1,542,459 | NM_000546.6(TP53):c.1179C>T (p.Asp393=) | TP53 | 17 | 7,669,612 | 7,669,612 | Likely benign | G | A | false | reverse | 17,878 |
514 | 514 | 375,710 | NM_000546.6(TP53):c.*13C>T | TP53 | 17 | 7,669,596 | 7,669,596 | Likely benign | G | A | false | reverse | 17,894 |
548 | 548 | 378,788 | NM_000546.6(TP53):c.*15T>C | TP53 | 17 | 7,669,594 | 7,669,594 | Likely benign | A | G | false | reverse | 17,896 |
382 | 382 | 346,177 | NM_000546.6(TP53):c.*205G>A | TP53 | 17 | 7,669,404 | 7,669,404 | Benign | C | T | false | reverse | 18,086 |
1,117 | 1,117 | 878,645 | NM_000546.6(TP53):c.*328G>A | TP53 | 17 | 7,669,281 | 7,669,281 | Benign | C | T | false | reverse | 18,209 |
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