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