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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
141 | 141 | 171,614 | NM_000546.6(TP53):c.797G>A (p.Gly266Glu) | TP53 | 17 | 7,673,823 | 7,673,823 | Pathogenic/Likely pathogenic | C | T | true | reverse | 13,667 |
750 | 750 | 480,018 | NM_000546.6(TP53):c.798A>T (p.Gly266=) | TP53 | 17 | 7,673,822 | 7,673,822 | Likely benign | T | A | false | reverse | 13,668 |
105 | 105 | 151,478 | NM_000546.6(TP53):c.799C>T (p.Arg267Trp) | TP53 | 17 | 7,673,821 | 7,673,821 | Pathogenic/Likely pathogenic | G | A | true | reverse | 13,669 |
1,568 | 1,568 | 2,913,762 | NM_000546.6(TP53):c.799C>A (p.Arg267=) | TP53 | 17 | 7,673,821 | 7,673,821 | Likely benign | G | T | false | reverse | 13,669 |
1,404 | 1,404 | 1,813,848 | NM_000546.6(TP53):c.799C>G (p.Arg267Gly) | TP53 | 17 | 7,673,821 | 7,673,821 | Pathogenic | G | C | true | reverse | 13,669 |
1,425 | 1,425 | 1,823,638 | NM_000546.6(TP53):c.801G>T (p.Arg267=) | TP53 | 17 | 7,673,819 | 7,673,819 | Likely benign | C | A | false | reverse | 13,671 |
1,069 | 1,069 | 814,465 | NM_000546.6(TP53):c.801G>A (p.Arg267=) | TP53 | 17 | 7,673,819 | 7,673,819 | Likely benign | C | T | false | reverse | 13,671 |
1,534 | 1,534 | 2,740,102 | NM_000546.6(TP53):c.801G>C (p.Arg267=) | TP53 | 17 | 7,673,819 | 7,673,819 | Likely pathogenic | C | G | true | reverse | 13,671 |
1,068 | 1,068 | 814,463 | NM_000546.6(TP53):c.804C>T (p.Asn268=) | TP53 | 17 | 7,673,816 | 7,673,816 | Likely benign | G | A | false | reverse | 13,674 |
1,535 | 1,535 | 2,740,107 | NM_000546.6(TP53):c.805A>T (p.Ser269Cys) | TP53 | 17 | 7,673,815 | 7,673,815 | Benign | T | A | false | reverse | 13,675 |
1,531 | 1,531 | 2,740,099 | NM_000546.6(TP53):c.806G>T (p.Ser269Ile) | TP53 | 17 | 7,673,814 | 7,673,814 | Likely pathogenic | C | A | true | reverse | 13,676 |
431 | 431 | 363,477 | NM_000546.6(TP53):c.808T>G (p.Phe270Val) | TP53 | 17 | 7,673,812 | 7,673,812 | Pathogenic | A | C | true | reverse | 13,678 |
427 | 427 | 363,473 | NM_000546.6(TP53):c.809T>C (p.Phe270Ser) | TP53 | 17 | 7,673,811 | 7,673,811 | Pathogenic/Likely pathogenic | A | G | true | reverse | 13,679 |
428 | 428 | 363,474 | NM_000546.6(TP53):c.810T>G (p.Phe270Leu) | TP53 | 17 | 7,673,810 | 7,673,810 | Likely pathogenic | A | C | true | reverse | 13,680 |
1,256 | 1,256 | 1,163,116 | NM_000546.6(TP53):c.811G>T (p.Glu271Ter) | TP53 | 17 | 7,673,809 | 7,673,809 | Pathogenic | C | A | true | reverse | 13,681 |
1,618 | 1,618 | 3,307,242 | NM_000546.6(TP53):c.812A>T (p.Glu271Val) | TP53 | 17 | 7,673,808 | 7,673,808 | Likely pathogenic | T | A | true | reverse | 13,682 |
1,358 | 1,358 | 1,643,944 | NM_000546.6(TP53):c.813G>A (p.Glu271=) | TP53 | 17 | 7,673,807 | 7,673,807 | Likely benign | C | T | false | reverse | 13,683 |
191 | 191 | 185,350 | NM_000546.6(TP53):c.814G>A (p.Val272Met) | TP53 | 17 | 7,673,806 | 7,673,806 | Pathogenic | C | T | true | reverse | 13,684 |
905 | 905 | 574,631 | NM_000546.6(TP53):c.814G>C (p.Val272Leu) | TP53 | 17 | 7,673,806 | 7,673,806 | Pathogenic/Likely pathogenic | C | G | true | reverse | 13,684 |
11 | 11 | 27,397 | NM_000546.6(TP53):c.814G>T (p.Val272Leu) | TP53 | 17 | 7,673,806 | 7,673,806 | Likely pathogenic | C | A | true | reverse | 13,684 |
1,229 | 1,229 | 1,126,808 | NM_000546.6(TP53):c.816G>A (p.Val272=) | TP53 | 17 | 7,673,804 | 7,673,804 | Likely benign | C | T | false | reverse | 13,686 |
37 | 37 | 52,763 | NM_000546.6(TP53):c.817C>T (p.Arg273Cys) | TP53 | 17 | 7,673,803 | 7,673,803 | Pathogenic/Likely pathogenic | G | A | true | reverse | 13,687 |
956 | 956 | 622,586 | NM_000546.6(TP53):c.817C>G (p.Arg273Gly) | TP53 | 17 | 7,673,803 | 7,673,803 | Pathogenic/Likely pathogenic | G | C | true | reverse | 13,687 |
479 | 479 | 363,535 | NM_000546.6(TP53):c.817C>A (p.Arg273Ser) | TP53 | 17 | 7,673,803 | 7,673,803 | Pathogenic | G | T | true | reverse | 13,687 |
16 | 16 | 27,405 | NM_000546.6(TP53):c.818G>A (p.Arg273His) | TP53 | 17 | 7,673,802 | 7,673,802 | Pathogenic | C | T | true | reverse | 13,688 |
478 | 478 | 363,534 | NM_000546.6(TP53):c.818G>T (p.Arg273Leu) | TP53 | 17 | 7,673,802 | 7,673,802 | Pathogenic | C | A | true | reverse | 13,688 |
305 | 305 | 236,461 | NM_000546.6(TP53):c.818G>C (p.Arg273Pro) | TP53 | 17 | 7,673,802 | 7,673,802 | Pathogenic/Likely pathogenic | C | G | true | reverse | 13,688 |
1,239 | 1,239 | 1,147,702 | NM_000546.6(TP53):c.822T>G (p.Val274=) | TP53 | 17 | 7,673,798 | 7,673,798 | Likely benign | A | C | false | reverse | 13,692 |
418 | 418 | 363,461 | NM_000546.6(TP53):c.824G>T (p.Cys275Phe) | TP53 | 17 | 7,673,796 | 7,673,796 | Pathogenic | C | A | true | reverse | 13,694 |
263 | 263 | 213,392 | NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) | TP53 | 17 | 7,673,796 | 7,673,796 | Pathogenic/Likely pathogenic | C | T | true | reverse | 13,694 |
710 | 710 | 479,287 | NM_000546.6(TP53):c.825T>G (p.Cys275Trp) | TP53 | 17 | 7,673,795 | 7,673,795 | Likely pathogenic | A | C | true | reverse | 13,695 |
1,191 | 1,191 | 999,967 | NM_000546.6(TP53):c.825T>A (p.Cys275Ter) | TP53 | 17 | 7,673,795 | 7,673,795 | Pathogenic | A | T | true | reverse | 13,695 |
190 | 190 | 185,349 | NM_000546.6(TP53):c.827C>G (p.Ala276Gly) | TP53 | 17 | 7,673,793 | 7,673,793 | Pathogenic | G | C | true | reverse | 13,697 |
1,409 | 1,409 | 1,817,150 | NM_000546.6(TP53):c.828C>A (p.Ala276=) | TP53 | 17 | 7,673,792 | 7,673,792 | Likely benign | G | T | false | reverse | 13,698 |
1,206 | 1,206 | 1,083,627 | NM_000546.6(TP53):c.828C>T (p.Ala276=) | TP53 | 17 | 7,673,792 | 7,673,792 | Likely benign | G | A | false | reverse | 13,698 |
529 | 529 | 376,604 | NM_000546.6(TP53):c.831T>C (p.Cys277=) | TP53 | 17 | 7,673,789 | 7,673,789 | Likely benign | A | G | false | reverse | 13,701 |
841 | 841 | 485,673 | NM_000546.6(TP53):c.831T>A (p.Cys277Ter) | TP53 | 17 | 7,673,789 | 7,673,789 | Pathogenic | A | T | true | reverse | 13,701 |
468 | 468 | 363,522 | NM_000546.6(TP53):c.832C>A (p.Pro278Thr) | TP53 | 17 | 7,673,788 | 7,673,788 | Pathogenic/Likely pathogenic | G | T | true | reverse | 13,702 |
467 | 467 | 363,521 | NM_000546.6(TP53):c.832C>T (p.Pro278Ser) | TP53 | 17 | 7,673,788 | 7,673,788 | Pathogenic/Likely pathogenic | G | A | true | reverse | 13,702 |
303 | 303 | 236,459 | NM_000546.6(TP53):c.833C>T (p.Pro278Leu) | TP53 | 17 | 7,673,787 | 7,673,787 | Pathogenic | G | A | true | reverse | 13,703 |
188 | 188 | 185,347 | NM_000546.6(TP53):c.837G>A (p.Gly279=) | TP53 | 17 | 7,673,783 | 7,673,783 | Likely benign | C | T | false | reverse | 13,707 |
1,135 | 1,135 | 914,184 | NM_000546.6(TP53):c.838A>C (p.Arg280=) | TP53 | 17 | 7,673,782 | 7,673,782 | Likely benign | T | G | false | reverse | 13,708 |
18 | 18 | 27,407 | NM_000546.6(TP53):c.839G>C (p.Arg280Thr) | TP53 | 17 | 7,673,781 | 7,673,781 | Pathogenic/Likely pathogenic | C | G | true | reverse | 13,709 |
955 | 955 | 622,585 | NM_000546.6(TP53):c.840A>C (p.Arg280Ser) | TP53 | 17 | 7,673,780 | 7,673,780 | Pathogenic/Likely pathogenic | T | G | true | reverse | 13,710 |
421 | 421 | 363,464 | NM_000546.6(TP53):c.841G>T (p.Asp281Tyr) | TP53 | 17 | 7,673,779 | 7,673,779 | Pathogenic/Likely pathogenic | C | A | true | reverse | 13,711 |
422 | 422 | 363,465 | NM_000546.6(TP53):c.841G>A (p.Asp281Asn) | TP53 | 17 | 7,673,779 | 7,673,779 | Pathogenic/Likely pathogenic | C | T | true | reverse | 13,711 |
423 | 423 | 363,467 | NM_000546.6(TP53):c.841G>C (p.Asp281His) | TP53 | 17 | 7,673,779 | 7,673,779 | Pathogenic/Likely pathogenic | C | G | true | reverse | 13,711 |
153 | 153 | 180,995 | NM_000546.6(TP53):c.842A>T (p.Asp281Val) | TP53 | 17 | 7,673,778 | 7,673,778 | Pathogenic/Likely pathogenic | T | A | true | reverse | 13,712 |
424 | 424 | 363,468 | NM_000546.6(TP53):c.842A>C (p.Asp281Ala) | TP53 | 17 | 7,673,778 | 7,673,778 | Likely pathogenic | T | G | true | reverse | 13,712 |
92 | 92 | 150,855 | NM_000546.6(TP53):c.842A>G (p.Asp281Gly) | TP53 | 17 | 7,673,778 | 7,673,778 | Pathogenic | T | C | true | reverse | 13,712 |
1,018 | 1,018 | 656,471 | NM_000546.6(TP53):c.843C>T (p.Asp281=) | TP53 | 17 | 7,673,777 | 7,673,777 | Likely benign | G | A | false | reverse | 13,713 |
589 | 589 | 403,007 | NM_000546.6(TP53):c.843C>A (p.Asp281Glu) | TP53 | 17 | 7,673,777 | 7,673,777 | Likely pathogenic | G | T | true | reverse | 13,713 |
1,363 | 1,363 | 1,666,075 | NM_000546.6(TP53):c.844C>A (p.Arg282=) | TP53 | 17 | 7,673,776 | 7,673,776 | Likely benign | G | T | false | reverse | 13,714 |
14 | 14 | 27,403 | NM_000546.6(TP53):c.844C>T (p.Arg282Trp) | TP53 | 17 | 7,673,776 | 7,673,776 | Pathogenic/Likely pathogenic | G | A | true | reverse | 13,714 |
85 | 85 | 150,535 | NM_000546.6(TP53):c.844C>G (p.Arg282Gly) | TP53 | 17 | 7,673,776 | 7,673,776 | Pathogenic | G | C | true | reverse | 13,714 |
482 | 482 | 363,538 | NM_000546.6(TP53):c.845G>C (p.Arg282Pro) | TP53 | 17 | 7,673,775 | 7,673,775 | Pathogenic/Likely pathogenic | C | G | true | reverse | 13,715 |
1,480 | 1,480 | 2,055,481 | NM_000546.6(TP53):c.846G>C (p.Arg282=) | TP53 | 17 | 7,673,774 | 7,673,774 | Likely benign | C | G | false | reverse | 13,716 |
811 | 811 | 485,347 | NM_000546.6(TP53):c.846G>A (p.Arg282=) | TP53 | 17 | 7,673,774 | 7,673,774 | Likely benign | C | T | false | reverse | 13,716 |
61 | 61 | 133,281 | NM_000546.6(TP53):c.847C>T (p.Arg283Cys) | TP53 | 17 | 7,673,773 | 7,673,773 | Likely benign | G | A | false | reverse | 13,717 |
683 | 683 | 469,119 | NM_000546.6(TP53):c.849C>G (p.Arg283=) | TP53 | 17 | 7,673,771 | 7,673,771 | Likely benign | G | C | false | reverse | 13,719 |
262 | 262 | 213,391 | NM_000546.6(TP53):c.851C>T (p.Thr284Ile) | TP53 | 17 | 7,673,769 | 7,673,769 | Likely benign | G | A | false | reverse | 13,721 |
187 | 187 | 185,346 | NM_000546.6(TP53):c.852A>C (p.Thr284=) | TP53 | 17 | 7,673,768 | 7,673,768 | Likely benign | T | G | false | reverse | 13,722 |
1,048 | 1,048 | 785,758 | NM_000546.6(TP53):c.852A>G (p.Thr284=) | TP53 | 17 | 7,673,768 | 7,673,768 | Likely benign | T | C | false | reverse | 13,722 |
609 | 609 | 410,258 | NM_000546.6(TP53):c.853G>A (p.Glu285Lys) | TP53 | 17 | 7,673,767 | 7,673,767 | Pathogenic/Likely pathogenic | C | T | true | reverse | 13,723 |
1,573 | 1,573 | 2,932,241 | NM_000546.6(TP53):c.853G>T (p.Glu285Ter) | TP53 | 17 | 7,673,767 | 7,673,767 | Pathogenic | C | A | true | reverse | 13,723 |
29 | 29 | 27,423 | NM_000546.6(TP53):c.854A>T (p.Glu285Val) | TP53 | 17 | 7,673,766 | 7,673,766 | Pathogenic | T | A | true | reverse | 13,724 |
809 | 809 | 485,343 | NM_000546.6(TP53):c.855G>A (p.Glu285=) | TP53 | 17 | 7,673,765 | 7,673,765 | Likely benign | C | T | false | reverse | 13,725 |
954 | 954 | 622,584 | NM_000546.6(TP53):c.856G>T (p.Glu286Ter) | TP53 | 17 | 7,673,764 | 7,673,764 | Pathogenic | C | A | true | reverse | 13,726 |
186 | 186 | 185,345 | NM_000546.6(TP53):c.856G>A (p.Glu286Lys) | TP53 | 17 | 7,673,764 | 7,673,764 | Pathogenic/Likely pathogenic | C | T | true | reverse | 13,726 |
426 | 426 | 363,472 | NM_000546.6(TP53):c.857A>C (p.Glu286Ala) | TP53 | 17 | 7,673,763 | 7,673,763 | Likely pathogenic | T | G | true | reverse | 13,727 |
1,417 | 1,417 | 1,820,927 | NM_000546.6(TP53):c.861G>A (p.Glu287=) | TP53 | 17 | 7,673,759 | 7,673,759 | Likely benign | C | T | false | reverse | 13,731 |
1,255 | 1,255 | 1,162,106 | NM_000546.6(TP53):c.866T>C (p.Leu289Pro) | TP53 | 17 | 7,673,754 | 7,673,754 | Likely benign | A | G | false | reverse | 13,736 |
302 | 302 | 236,458 | NM_000546.6(TP53):c.867C>T (p.Leu289=) | TP53 | 17 | 7,673,753 | 7,673,753 | Likely benign | G | A | false | reverse | 13,737 |
1,032 | 1,032 | 771,855 | NM_000546.6(TP53):c.867C>G (p.Leu289=) | TP53 | 17 | 7,673,753 | 7,673,753 | Likely benign | G | C | false | reverse | 13,737 |
261 | 261 | 213,390 | NM_000546.6(TP53):c.868C>T (p.Arg290Cys) | TP53 | 17 | 7,673,752 | 7,673,752 | Likely benign | G | A | false | reverse | 13,738 |
62 | 62 | 133,282 | NM_000546.6(TP53):c.869G>A (p.Arg290His) | TP53 | 17 | 7,673,751 | 7,673,751 | Benign | C | T | false | reverse | 13,739 |
861 | 861 | 507,165 | NM_000546.6(TP53):c.870C>A (p.Arg290=) | TP53 | 17 | 7,673,750 | 7,673,750 | Likely benign | G | T | false | reverse | 13,740 |
1,483 | 1,483 | 2,057,552 | NM_000546.6(TP53):c.873G>A (p.Lys291=) | TP53 | 17 | 7,673,747 | 7,673,747 | Likely benign | C | T | false | reverse | 13,743 |
601 | 601 | 403,145 | NM_000546.6(TP53):c.875A>G (p.Lys292Arg) | TP53 | 17 | 7,673,745 | 7,673,745 | Likely benign | T | C | false | reverse | 13,745 |
1,134 | 1,134 | 914,181 | NM_000546.6(TP53):c.876A>G (p.Lys292=) | TP53 | 17 | 7,673,744 | 7,673,744 | Likely benign | T | C | false | reverse | 13,746 |
63 | 63 | 133,283 | NM_000546.6(TP53):c.877G>T (p.Gly293Trp) | TP53 | 17 | 7,673,743 | 7,673,743 | Likely benign | C | A | false | reverse | 13,747 |
1,066 | 1,066 | 814,460 | NM_000546.6(TP53):c.879G>A (p.Gly293=) | TP53 | 17 | 7,673,741 | 7,673,741 | Likely benign | C | T | false | reverse | 13,749 |
556 | 556 | 378,805 | NM_000546.6(TP53):c.880G>T (p.Glu294Ter) | TP53 | 17 | 7,673,740 | 7,673,740 | Pathogenic | C | A | true | reverse | 13,750 |
1,228 | 1,228 | 1,126,807 | NM_000546.6(TP53):c.882G>A (p.Glu294=) | TP53 | 17 | 7,673,738 | 7,673,738 | Likely benign | C | T | false | reverse | 13,752 |
1,633 | 1,633 | 3,385,608 | NM_000546.6(TP53):c.885T>A (p.Pro295=) | TP53 | 17 | 7,673,735 | 7,673,735 | Likely benign | A | T | false | reverse | 13,755 |
66 | 66 | 136,502 | NM_000546.6(TP53):c.885T>C (p.Pro295=) | TP53 | 17 | 7,673,735 | 7,673,735 | Benign/Likely benign | A | G | false | reverse | 13,755 |
68 | 68 | 136,722 | NM_000546.6(TP53):c.886C>T (p.His296Tyr) | TP53 | 17 | 7,673,734 | 7,673,734 | Likely benign | G | A | false | reverse | 13,756 |
45 | 45 | 106,676 | NM_000546.6(TP53):c.887A>G (p.His296Arg) | TP53 | 17 | 7,673,733 | 7,673,733 | Likely pathogenic | T | C | true | reverse | 13,757 |
1,426 | 1,426 | 1,824,478 | NM_000546.6(TP53):c.888C>T (p.His296=) | TP53 | 17 | 7,673,732 | 7,673,732 | Likely benign | G | A | false | reverse | 13,758 |
185 | 185 | 185,344 | NM_000546.6(TP53):c.891C>T (p.His297=) | TP53 | 17 | 7,673,729 | 7,673,729 | Likely benign | G | A | false | reverse | 13,761 |
41 | 41 | 99,230 | NM_000546.6(TP53):c.892G>T (p.Glu298Ter) | TP53 | 17 | 7,673,728 | 7,673,728 | Pathogenic | C | A | true | reverse | 13,762 |
100 | 100 | 151,197 | NM_000546.6(TP53):c.892G>A (p.Glu298Lys) | TP53 | 17 | 7,673,728 | 7,673,728 | Likely benign | C | T | false | reverse | 13,762 |
882 | 882 | 532,194 | NM_000546.6(TP53):c.894G>A (p.Glu298=) | TP53 | 17 | 7,673,726 | 7,673,726 | Likely benign | C | T | false | reverse | 13,764 |
588 | 588 | 403,004 | NM_000546.6(TP53):c.895C>T (p.Leu299=) | TP53 | 17 | 7,673,725 | 7,673,725 | Likely benign | G | A | false | reverse | 13,765 |
1,419 | 1,419 | 1,820,958 | NM_000546.6(TP53):c.897G>T (p.Leu299=) | TP53 | 17 | 7,673,723 | 7,673,723 | Likely benign | C | A | false | reverse | 13,767 |
1,418 | 1,418 | 1,820,955 | NM_000546.6(TP53):c.897G>A (p.Leu299=) | TP53 | 17 | 7,673,723 | 7,673,723 | Likely benign | C | T | false | reverse | 13,767 |
1,420 | 1,420 | 1,821,018 | NM_000546.6(TP53):c.899C>T (p.Pro300Leu) | TP53 | 17 | 7,673,721 | 7,673,721 | Likely benign | G | A | false | reverse | 13,769 |
555 | 555 | 378,801 | NM_000546.6(TP53):c.900C>G (p.Pro300=) | TP53 | 17 | 7,673,720 | 7,673,720 | Likely benign | G | C | false | reverse | 13,770 |
1,047 | 1,047 | 785,757 | NM_000546.6(TP53):c.900C>T (p.Pro300=) | TP53 | 17 | 7,673,720 | 7,673,720 | Likely benign | G | A | false | reverse | 13,770 |
184 | 184 | 185,343 | NM_000546.6(TP53):c.903A>G (p.Pro301=) | TP53 | 17 | 7,673,717 | 7,673,717 | Benign/Likely benign | T | C | false | reverse | 13,773 |
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