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
1,555
1,555
2,868,948
NM_000546.6(TP53):c.993+15G>C
TP53
17
7,673,520
7,673,520
Likely benign
C
G
false
reverse
13,970
1,591
1,591
2,991,219
NM_000546.6(TP53):c.993+15G>A
TP53
17
7,673,520
7,673,520
Likely benign
C
T
false
reverse
13,970
1,464
1,464
1,895,175
NM_000546.6(TP53):c.993+17C>T
TP53
17
7,673,518
7,673,518
Likely benign
G
A
false
reverse
13,972
1,505
1,505
2,156,215
NM_000546.6(TP53):c.993+19T>A
TP53
17
7,673,516
7,673,516
Likely benign
A
T
false
reverse
13,974
1,508
1,508
2,170,123
NM_000546.6(TP53):c.993+20C>T
TP53
17
7,673,515
7,673,515
Likely benign
G
A
false
reverse
13,975
285
285
225,770
NM_000546.6(TP53):c.993+141G>A
TP53
17
7,673,394
7,673,394
Likely benign
C
T
false
reverse
14,096
935
935
619,760
NM_000546.6(TP53):c.993+176C>T
TP53
17
7,673,359
7,673,359
Likely benign
G
A
false
reverse
14,131
922
922
619,636
NM_000546.6(TP53):c.993+177C>T
TP53
17
7,673,358
7,673,358
Likely benign
G
A
false
reverse
14,132
1,146
1,146
916,044
NM_000546.6(TP53):c.993+184T>C
TP53
17
7,673,351
7,673,351
Likely benign
A
G
false
reverse
14,139
1,152
1,152
916,521
NM_000546.6(TP53):c.993+185A>G
TP53
17
7,673,350
7,673,350
Likely benign
T
C
false
reverse
14,140
808
808
485,340
NM_000546.6(TP53):c.993+189T>A
TP53
17
7,673,346
7,673,346
Likely benign
A
T
false
reverse
14,144
1,160
1,160
916,575
NM_000546.6(TP53):c.993+189T>C
TP53
17
7,673,346
7,673,346
Likely benign
A
G
false
reverse
14,144
1,159
1,159
916,573
NM_000546.6(TP53):c.993+195G>A
TP53
17
7,673,340
7,673,340
Likely benign
C
T
false
reverse
14,150
806
806
485,335
NM_000546.6(TP53):c.993+198C>T
TP53
17
7,673,337
7,673,337
Likely benign
G
A
false
reverse
14,153
771
771
485,105
NM_000546.6(TP53):c.993+199C>G
TP53
17
7,673,336
7,673,336
Likely benign
G
C
false
reverse
14,154
1,158
1,158
916,570
NM_000546.6(TP53):c.993+203C>T
TP53
17
7,673,332
7,673,332
Likely benign
G
A
false
reverse
14,158
805
805
485,334
NM_000546.6(TP53):c.993+213A>G
TP53
17
7,673,322
7,673,322
Likely benign
T
C
false
reverse
14,168
770
770
485,100
NM_000546.6(TP53):c.993+216A>C
TP53
17
7,673,319
7,673,319
Likely benign
T
G
false
reverse
14,171
795
795
485,310
NM_000546.6(TP53):c.993+223T>C
TP53
17
7,673,312
7,673,312
Likely benign
A
G
false
reverse
14,178
77
77
139,100
NM_000546.6(TP53):c.993+223T>G
TP53
17
7,673,312
7,673,312
Benign/Likely benign
A
C
false
reverse
14,178
387
387
358,962
NM_000546.6(TP53):c.993+227A>C
TP53
17
7,673,308
7,673,308
Likely benign
T
G
false
reverse
14,182
769
769
485,098
NM_000546.6(TP53):c.993+228A>G
TP53
17
7,673,307
7,673,307
Likely benign
T
C
false
reverse
14,183
932
932
619,752
NM_000546.6(TP53):c.993+232G>C
TP53
17
7,673,303
7,673,303
Likely benign
C
G
false
reverse
14,187
386
386
358,961
NM_000546.6(TP53):c.993+234G>A
TP53
17
7,673,301
7,673,301
Likely benign
C
T
false
reverse
14,189
1,151
1,151
916,520
NM_000546.6(TP53):c.993+240A>T
TP53
17
7,673,295
7,673,295
Likely benign
T
A
false
reverse
14,195
385
385
358,960
NM_000546.6(TP53):c.993+244G>A
TP53
17
7,673,291
7,673,291
Likely benign
C
T
false
reverse
14,199
830
830
485,512
NM_000546.6(TP53):c.993+244G>C
TP53
17
7,673,291
7,673,291
Likely benign
C
G
false
reverse
14,199
829
829
485,510
NM_000546.6(TP53):c.993+245G>A
TP53
17
7,673,290
7,673,290
Likely benign
C
T
false
reverse
14,200
794
794
485,308
NM_000546.6(TP53):c.993+248C>T
TP53
17
7,673,287
7,673,287
Likely benign
G
A
false
reverse
14,203
1,167
1,167
916,749
NM_000546.6(TP53):c.993+267A>G
TP53
17
7,673,268
7,673,268
Likely benign
T
C
false
reverse
14,222
1,150
1,150
916,519
NM_000546.6(TP53):c.993+277T>A
TP53
17
7,673,258
7,673,258
Likely benign
A
T
false
reverse
14,232
768
768
485,097
NM_000546.6(TP53):c.993+285G>A
TP53
17
7,673,250
7,673,250
Likely benign
C
T
false
reverse
14,240
1,145
1,145
916,042
NM_000546.6(TP53):c.993+286A>G
TP53
17
7,673,249
7,673,249
Likely benign
T
C
false
reverse
14,241
767
767
485,095
NM_000546.6(TP53):c.993+287T>C
TP53
17
7,673,248
7,673,248
Likely benign
A
G
false
reverse
14,242
931
931
619,747
NM_000546.6(TP53):c.993+289G>A
TP53
17
7,673,246
7,673,246
Likely benign
C
T
false
reverse
14,244
828
828
485,507
NM_000546.6(TP53):c.993+290T>C
TP53
17
7,673,245
7,673,245
Likely benign
A
G
false
reverse
14,245
1,157
1,157
916,569
NM_000546.6(TP53):c.993+295C>T
TP53
17
7,673,240
7,673,240
Likely benign
G
A
false
reverse
14,250
1,149
1,149
916,517
NM_000546.6(TP53):c.993+299C>T
TP53
17
7,673,236
7,673,236
Likely benign
G
A
false
reverse
14,254
827
827
485,506
NM_000546.6(TP53):c.993+307C>G
TP53
17
7,673,228
7,673,228
Likely benign
G
C
false
reverse
14,262
930
930
619,746
NM_000546.6(TP53):c.993+310G>T
TP53
17
7,673,225
7,673,225
Likely benign
C
A
false
reverse
14,265
803
803
485,330
NM_000546.6(TP53):c.993+310G>A
TP53
17
7,673,225
7,673,225
Likely benign
C
T
false
reverse
14,265
800
800
485,325
NM_000546.6(TP53):c.993+312C>T
TP53
17
7,673,223
7,673,223
Likely benign
G
A
false
reverse
14,267
792
792
485,298
NM_000546.6(TP53):c.993+313G>A
TP53
17
7,673,222
7,673,222
Likely benign
C
T
false
reverse
14,268
934
934
619,758
NM_000546.6(TP53):c.993+317G>A
TP53
17
7,673,218
7,673,218
Likely benign
C
T
false
reverse
14,272
929
929
619,742
NM_000546.6(TP53):c.993+318T>C
TP53
17
7,673,217
7,673,217
Likely benign
A
G
false
reverse
14,273
928
928
619,739
NM_000546.6(TP53):c.993+331A>G
TP53
17
7,673,204
7,673,204
Likely benign
T
C
false
reverse
14,286
1,274
1,274
1,235,631
NM_000546.6(TP53):c.993+352C>T
TP53
17
7,673,183
7,673,183
Benign
G
A
false
reverse
14,307
1,268
1,268
1,226,208
NM_000546.6(TP53):c.993+505G>A
TP53
17
7,673,030
7,673,030
Benign
C
T
false
reverse
14,460
1,278
1,278
1,278,348
NM_000546.6(TP53):c.993+577A>T
TP53
17
7,672,958
7,672,958
Benign
T
A
false
reverse
14,532
1,578
1,578
2,950,938
NM_000546.6(TP53):c.994-18C>A
TP53
17
7,670,733
7,670,733
Likely benign
G
T
false
reverse
16,757
1,486
1,486
2,070,542
NM_000546.6(TP53):c.994-18C>T
TP53
17
7,670,733
7,670,733
Likely benign
G
A
false
reverse
16,757
151
151
180,991
NM_000546.6(TP53):c.994-17C>T
TP53
17
7,670,732
7,670,732
Benign/Likely benign
G
A
false
reverse
16,758
1,461
1,461
1,859,935
NM_000546.6(TP53):c.994-17C>G
TP53
17
7,670,732
7,670,732
Likely benign
G
C
false
reverse
16,758
1,335
1,335
1,586,275
NM_000546.6(TP53):c.994-17C>A
TP53
17
7,670,732
7,670,732
Likely benign
G
T
false
reverse
16,758
1,594
1,594
3,007,933
NM_000546.6(TP53):c.994-16T>G
TP53
17
7,670,731
7,670,731
Likely benign
A
C
false
reverse
16,759
1,507
1,507
2,167,794
NM_000546.6(TP53):c.994-15C>T
TP53
17
7,670,730
7,670,730
Likely benign
G
A
false
reverse
16,760
527
527
376,581
NM_000546.6(TP53):c.994-12C>T
TP53
17
7,670,727
7,670,727
Likely benign
G
A
false
reverse
16,763
1,215
1,215
1,105,422
NM_000546.6(TP53):c.994-10G>C
TP53
17
7,670,725
7,670,725
Likely benign
C
G
false
reverse
16,765
1,227
1,227
1,126,806
NM_000546.6(TP53):c.994-8T>G
TP53
17
7,670,723
7,670,723
Likely benign
A
C
false
reverse
16,767
1,356
1,356
1,630,385
NM_000546.6(TP53):c.994-6C>G
TP53
17
7,670,721
7,670,721
Likely benign
G
C
false
reverse
16,769
680
680
469,113
NM_000546.6(TP53):c.994-6C>A
TP53
17
7,670,721
7,670,721
Likely benign
G
T
false
reverse
16,769
1,205
1,205
1,083,626
NM_000546.6(TP53):c.994-6C>T
TP53
17
7,670,721
7,670,721
Likely benign
G
A
false
reverse
16,769
679
679
469,110
NM_000546.6(TP53):c.994-5T>C
TP53
17
7,670,720
7,670,720
Likely benign
A
G
false
reverse
16,770
745
745
479,966
NM_000546.6(TP53):c.994-2A>G
TP53
17
7,670,717
7,670,717
Pathogenic/Likely pathogenic
T
C
true
reverse
16,773
1,257
1,257
1,166,732
NM_000546.6(TP53):c.994-2A>C
TP53
17
7,670,717
7,670,717
not provided
T
G
false
reverse
16,773
1,267
1,267
1,218,334
NM_000546.6(TP53):c.994-2A>T
TP53
17
7,670,717
7,670,717
not provided
T
A
false
reverse
16,773
295
295
236,446
NM_000546.6(TP53):c.994-1G>C
TP53
17
7,670,716
7,670,716
Pathogenic/Likely pathogenic
C
G
true
reverse
16,774
118
118
151,875
NM_000546.6(TP53):c.994-1G>A
TP53
17
7,670,716
7,670,716
Pathogenic/Likely pathogenic
C
T
true
reverse
16,774
1,270
1,270
1,229,978
NM_000546.6(TP53):c.994-1G>T
TP53
17
7,670,716
7,670,716
not provided
C
A
false
reverse
16,774
1,429
1,429
1,825,732
NM_000546.6(TP53):c.995T>A (p.Ile332Asn)
TP53
17
7,670,714
7,670,714
Likely pathogenic
A
T
true
reverse
16,776
1,046
1,046
785,756
NM_000546.6(TP53):c.996C>T (p.Ile332=)
TP53
17
7,670,713
7,670,713
Likely benign
G
A
false
reverse
16,777
180
180
185,338
NM_000546.6(TP53):c.997C>T (p.Arg333Cys)
TP53
17
7,670,712
7,670,712
Likely benign
G
A
false
reverse
16,778
121
121
151,987
NM_000546.6(TP53):c.998G>A (p.Arg333His)
TP53
17
7,670,711
7,670,711
Likely benign
C
T
false
reverse
16,779
621
621
420,637
NM_000546.6(TP53):c.1000G>T (p.Gly334Trp)
TP53
17
7,670,709
7,670,709
Likely pathogenic
C
A
true
reverse
16,781
178
178
185,336
NM_000546.6(TP53):c.1002G>A (p.Gly334=)
TP53
17
7,670,707
7,670,707
Likely benign
C
T
false
reverse
16,783
1,204
1,204
1,083,625
NM_000546.6(TP53):c.1005T>G (p.Arg335=)
TP53
17
7,670,704
7,670,704
Likely benign
A
C
false
reverse
16,786
1,519
1,519
2,423,240
NM_000546.6(TP53):c.1006G>C (p.Glu336Gln)
TP53
17
7,670,703
7,670,703
Likely benign
C
G
false
reverse
16,787
693
693
479,218
NM_000546.6(TP53):c.1008G>A (p.Glu336=)
TP53
17
7,670,701
7,670,701
Likely benign
C
T
false
reverse
16,789
127
127
152,250
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)
TP53
17
7,670,700
7,670,700
Pathogenic/Likely pathogenic
G
A
true
reverse
16,790
135
135
152,542
NM_000546.6(TP53):c.1010G>T (p.Arg337Leu)
TP53
17
7,670,699
7,670,699
Likely pathogenic
C
A
true
reverse
16,791
26
26
27,418
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
TP53
17
7,670,699
7,670,699
Pathogenic/Likely pathogenic
C
T
true
reverse
16,791
146
146
176,640
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro)
TP53
17
7,670,699
7,670,699
Likely pathogenic
C
G
true
reverse
16,791
948
948
621,604
NM_000546.6(TP53):c.1011C>G (p.Arg337=)
TP53
17
7,670,698
7,670,698
Likely benign
G
C
false
reverse
16,792
856
856
506,738
NM_000546.6(TP53):c.1011C>T (p.Arg337=)
TP53
17
7,670,698
7,670,698
Likely benign
G
A
false
reverse
16,792
150
150
180,989
NM_000546.6(TP53):c.1014C>T (p.Phe338=)
TP53
17
7,670,695
7,670,695
Benign/Likely benign
G
A
false
reverse
16,795
108
108
151,607
NM_000546.6(TP53):c.1015G>C (p.Glu339Gln)
TP53
17
7,670,694
7,670,694
Likely benign
C
G
false
reverse
16,796
640
640
432,338
NM_000546.6(TP53):c.1015G>T (p.Glu339Ter)
TP53
17
7,670,694
7,670,694
Pathogenic
C
A
true
reverse
16,796
1,407
1,407
1,816,234
NM_000546.6(TP53):c.1020G>T (p.Met340Ile)
TP53
17
7,670,689
7,670,689
Likely benign
C
A
false
reverse
16,801
277
277
222,734
NM_000546.6(TP53):c.1023C>T (p.Phe341=)
TP53
17
7,670,686
7,670,686
Benign/Likely benign
G
A
false
reverse
16,804
1,541
1,541
2,753,438
NM_000546.6(TP53):c.1023C>G (p.Phe341Leu)
TP53
17
7,670,686
7,670,686
Likely benign
G
C
false
reverse
16,804
149
149
180,988
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
TP53
17
7,670,685
7,670,685
Pathogenic
G
A
true
reverse
16,805
294
294
236,445
NM_000546.6(TP53):c.1025G>A (p.Arg342Gln)
TP53
17
7,670,684
7,670,684
Likely benign
C
T
false
reverse
16,806
257
257
213,385
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro)
TP53
17
7,670,684
7,670,684
Pathogenic/Likely pathogenic
C
G
true
reverse
16,806
1,237
1,237
1,147,700
NM_000546.6(TP53):c.1026A>G (p.Arg342=)
TP53
17
7,670,683
7,670,683
Likely benign
T
C
false
reverse
16,807
1,063
1,063
814,448
NM_000546.6(TP53):c.1030C>T (p.Leu344=)
TP53
17
7,670,679
7,670,679
Likely benign
G
A
false
reverse
16,811
24
24
27,414
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)
TP53
17
7,670,678
7,670,678
Likely pathogenic
A
G
true
reverse
16,812
276
276
222,733
NM_000546.6(TP53):c.1032G>A (p.Leu344=)
TP53
17
7,670,677
7,670,677
Likely benign
C
T
false
reverse
16,813
651
651
467,487
NM_000546.6(TP53):c.1032G>C (p.Leu344=)
TP53
17
7,670,677
7,670,677
Likely benign
C
G
false
reverse
16,813
953
953
622,574
NM_000546.6(TP53):c.1036G>T (p.Glu346Ter)
TP53
17
7,670,673
7,670,673
Pathogenic
C
A
true
reverse
16,817
692
692
479,212
NM_000546.6(TP53):c.1038G>A (p.Glu346=)
TP53
17
7,670,671
7,670,671
Likely benign
C
T
false
reverse
16,819