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
849
849
497,494
NM_000546.6(TP53):c.672+2T>A
TP53
17
7,674,857
7,674,857
Likely pathogenic
A
T
true
reverse
12,633
989
989
623,213
NM_000546.6(TP53):c.672+2T>G
TP53
17
7,674,857
7,674,857
Pathogenic
A
C
true
reverse
12,633
1,263
1,263
1,199,563
NM_000546.6(TP53):c.672+2T>C
TP53
17
7,674,857
7,674,857
Pathogenic
A
G
true
reverse
12,633
1,561
1,561
2,902,639
NM_000546.6(TP53):c.672+14C>T
TP53
17
7,674,845
7,674,845
Likely benign
G
A
false
reverse
12,645
782
782
485,148
NM_000546.6(TP53):c.672+14C>G
TP53
17
7,674,845
7,674,845
Likely benign
G
C
false
reverse
12,645
531
531
376,611
NM_000546.6(TP53):c.672+15T>G
TP53
17
7,674,844
7,674,844
Likely benign
A
C
false
reverse
12,646
781
781
485,143
NM_000546.6(TP53):c.672+15T>C
TP53
17
7,674,844
7,674,844
Likely benign
A
G
false
reverse
12,646
780
780
485,135
NM_000546.6(TP53):c.672+16G>A
TP53
17
7,674,843
7,674,843
Likely benign
C
T
false
reverse
12,647
161
161
181,004
NM_000546.6(TP53):c.672+18G>C
TP53
17
7,674,841
7,674,841
Benign/Likely benign
C
G
false
reverse
12,649
798
798
485,321
NM_000546.6(TP53):c.672+19G>A
TP53
17
7,674,840
7,674,840
Likely benign
C
T
false
reverse
12,650
1,467
1,467
1,940,739
NM_000546.6(TP53):c.672+20T>A
TP53
17
7,674,839
7,674,839
Likely benign
A
T
false
reverse
12,651
73
73
137,159
NM_000546.6(TP53):c.672+31A>G
TP53
17
7,674,828
7,674,828
Benign/Likely benign
T
C
false
reverse
12,662
72
72
137,158
NM_000546.6(TP53):c.672+35G>T
TP53
17
7,674,824
7,674,824
Likely benign
C
A
false
reverse
12,666
1,284
1,284
1,316,747
NM_000546.6(TP53):c.672+48G>T
TP53
17
7,674,811
7,674,811
Likely benign
C
A
false
reverse
12,679
1,262
1,262
1,185,318
NM_000546.6(TP53):c.672+48G>A
TP53
17
7,674,811
7,674,811
Benign/Likely benign
C
T
false
reverse
12,679
371
371
256,462
NM_000546.6(TP53):c.672+62A>G
TP53
17
7,674,797
7,674,797
Benign
T
C
false
reverse
12,693
1,019
1,019
669,110
NM_000546.6(TP53):c.672+220G>T
TP53
17
7,674,639
7,674,639
Benign
C
A
false
reverse
12,851
1,259
1,259
1,178,209
NM_000546.6(TP53):c.673-100C>T
TP53
17
7,674,390
7,674,390
Likely benign
G
A
false
reverse
13,100
1,610
1,610
3,198,192
NM_000546.6(TP53):c.673-45C>T
TP53
17
7,674,335
7,674,335
Likely benign
G
A
false
reverse
13,155
1,422
1,422
1,822,245
NM_000546.6(TP53):c.673-44C>T
TP53
17
7,674,334
7,674,334
Benign
G
A
false
reverse
13,156
280
280
222,739
NM_000546.6(TP53):c.673-36G>C
TP53
17
7,674,326
7,674,326
Benign
C
G
false
reverse
13,164
1,583
1,583
2,978,662
NM_000546.6(TP53):c.673-20G>T
TP53
17
7,674,310
7,674,310
Likely benign
C
A
false
reverse
13,180
520
520
375,723
NM_000546.6(TP53):c.673-19G>A
TP53
17
7,674,309
7,674,309
Benign/Likely benign
C
T
false
reverse
13,181
1,338
1,338
1,595,364
NM_000546.6(TP53):c.673-18G>A
TP53
17
7,674,308
7,674,308
Likely benign
C
T
false
reverse
13,182
1,497
1,497
2,093,661
NM_000546.6(TP53):c.673-16C>T
TP53
17
7,674,306
7,674,306
Likely benign
G
A
false
reverse
13,184
1,337
1,337
1,593,189
NM_000546.6(TP53):c.673-15T>G
TP53
17
7,674,305
7,674,305
Likely benign
A
C
false
reverse
13,185
833
833
485,521
NM_000546.6(TP53):c.673-13T>C
TP53
17
7,674,303
7,674,303
Likely benign
A
G
false
reverse
13,187
1,342
1,342
1,604,639
NM_000546.6(TP53):c.673-12G>A
TP53
17
7,674,302
7,674,302
Likely benign
C
T
false
reverse
13,188
923
923
619,639
NM_000546.6(TP53):c.673-9A>G
TP53
17
7,674,299
7,674,299
Likely benign
T
C
false
reverse
13,191
816
816
485,363
NM_000546.6(TP53):c.673-5C>A
TP53
17
7,674,295
7,674,295
Likely benign
G
T
false
reverse
13,195
314
314
236,472
NM_000546.6(TP53):c.673-5C>G
TP53
17
7,674,295
7,674,295
Likely benign
G
C
false
reverse
13,195
988
988
623,212
NM_000546.6(TP53):c.673-2A>C
TP53
17
7,674,292
7,674,292
not provided
T
G
false
reverse
13,198
987
987
623,211
NM_000546.6(TP53):c.673-2A>T
TP53
17
7,674,292
7,674,292
Pathogenic/Likely pathogenic
T
A
true
reverse
13,198
667
667
468,384
NM_000546.6(TP53):c.673-2A>G
TP53
17
7,674,292
7,674,292
Pathogenic/Likely pathogenic
T
C
true
reverse
13,198
539
539
376,684
NM_000546.6(TP53):c.673-1G>A
TP53
17
7,674,291
7,674,291
Pathogenic
C
T
true
reverse
13,199
1,266
1,266
1,218,333
NM_000546.6(TP53):c.673-1G>C
TP53
17
7,674,291
7,674,291
Pathogenic/Likely pathogenic
C
G
true
reverse
13,199
355
355
242,981
NM_000546.6(TP53):c.673-1G>T
TP53
17
7,674,291
7,674,291
Pathogenic
C
A
true
reverse
13,199
699
699
479,250
NM_000546.6(TP53):c.675T>C (p.Val225=)
TP53
17
7,674,288
7,674,288
Likely benign
A
G
false
reverse
13,202
1,564
1,564
2,908,653
NM_000546.6(TP53):c.678C>G (p.Gly226=)
TP53
17
7,674,285
7,674,285
Likely benign
G
C
false
reverse
13,205
862
862
507,181
NM_000546.6(TP53):c.678C>A (p.Gly226=)
TP53
17
7,674,285
7,674,285
Likely benign
G
T
false
reverse
13,205
1,488
1,488
2,075,581
NM_000546.6(TP53):c.678C>T (p.Gly226=)
TP53
17
7,674,285
7,674,285
Likely benign
G
A
false
reverse
13,205
725
725
479,342
NM_000546.6(TP53):c.681T>G (p.Ser227=)
TP53
17
7,674,282
7,674,282
Likely benign
A
C
false
reverse
13,208
1,522
1,522
2,423,245
NM_000546.6(TP53):c.682G>T (p.Asp228Tyr)
TP53
17
7,674,281
7,674,281
Likely benign
C
A
false
reverse
13,209
1,281
1,281
1,306,012
NM_000546.6(TP53):c.687T>C (p.Cys229=)
TP53
17
7,674,276
7,674,276
Likely benign
A
G
false
reverse
13,214
1,603
1,603
3,058,874
NM_000546.6(TP53):c.690C>T (p.Thr230=)
TP53
17
7,674,273
7,674,273
Likely benign
G
A
false
reverse
13,217
1,318
1,318
1,531,420
NM_000546.6(TP53):c.693C>T (p.Thr231=)
TP53
17
7,674,270
7,674,270
Likely benign
G
A
false
reverse
13,220
1,139
1,139
914,188
NM_000546.6(TP53):c.693C>A (p.Thr231=)
TP53
17
7,674,270
7,674,270
Likely benign
G
T
false
reverse
13,220
959
959
622,596
NM_000546.6(TP53):c.695T>G (p.Ile232Ser)
TP53
17
7,674,268
7,674,268
Pathogenic
A
C
true
reverse
13,222
1,104
1,104
846,269
NM_000546.6(TP53):c.695T>A (p.Ile232Asn)
TP53
17
7,674,268
7,674,268
Pathogenic/Likely pathogenic
A
T
true
reverse
13,222
93
93
150,938
NM_000546.6(TP53):c.695T>C (p.Ile232Thr)
TP53
17
7,674,268
7,674,268
Pathogenic/Likely pathogenic
A
G
true
reverse
13,222
196
196
185,357
NM_000546.6(TP53):c.696C>T (p.Ile232=)
TP53
17
7,674,267
7,674,267
Likely benign
G
A
false
reverse
13,223
1,217
1,217
1,105,424
NM_000546.6(TP53):c.699C>T (p.His233=)
TP53
17
7,674,264
7,674,264
Likely benign
G
A
false
reverse
13,226
511
511
363,571
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn)
TP53
17
7,674,263
7,674,263
Pathogenic
A
T
true
reverse
13,227
279
279
222,738
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp)
TP53
17
7,674,263
7,674,263
Pathogenic/Likely pathogenic
A
C
true
reverse
13,227
510
510
363,570
NM_000546.6(TP53):c.700T>C (p.Tyr234His)
TP53
17
7,674,263
7,674,263
Pathogenic/Likely pathogenic
A
G
true
reverse
13,227
58
58
133,277
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)
TP53
17
7,674,262
7,674,262
Pathogenic/Likely pathogenic
T
C
true
reverse
13,228
1,202
1,202
1,064,414
NM_000546.6(TP53):c.702C>G (p.Tyr234Ter)
TP53
17
7,674,261
7,674,261
Pathogenic
G
C
true
reverse
13,229
1,547
1,547
2,801,597
NM_000546.6(TP53):c.702C>A (p.Tyr234Ter)
TP53
17
7,674,261
7,674,261
Pathogenic
G
T
true
reverse
13,229
59
59
133,278
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
TP53
17
7,674,259
7,674,259
Benign
T
C
false
reverse
13,231
1,207
1,207
1,083,628
NM_000546.6(TP53):c.705C>T (p.Asn235=)
TP53
17
7,674,258
7,674,258
Likely benign
G
A
false
reverse
13,232
264
264
213,394
NM_000546.6(TP53):c.706T>C (p.Tyr236His)
TP53
17
7,674,257
7,674,257
Pathogenic/Likely pathogenic
A
G
true
reverse
13,233
1,049
1,049
785,759
NM_000546.6(TP53):c.708C>T (p.Tyr236=)
TP53
17
7,674,255
7,674,255
Likely benign
G
A
false
reverse
13,235
1,549
1,549
2,843,127
NM_000546.6(TP53):c.708C>A (p.Tyr236Ter)
TP53
17
7,674,255
7,674,255
Pathogenic
G
T
true
reverse
13,235
1,365
1,365
1,678,277
NM_000546.6(TP53):c.708C>G (p.Tyr236Ter)
TP53
17
7,674,255
7,674,255
Pathogenic
G
C
true
reverse
13,235
462
462
363,515
NM_000546.6(TP53):c.710T>A (p.Met237Lys)
TP53
17
7,674,253
7,674,253
Pathogenic/Likely pathogenic
A
T
true
reverse
13,237
1,412
1,412
1,819,274
NM_000546.6(TP53):c.711G>C (p.Met237Ile)
TP53
17
7,674,252
7,674,252
Pathogenic/Likely pathogenic
C
G
true
reverse
13,238
133
133
152,428
NM_000546.6(TP53):c.711G>A (p.Met237Ile)
TP53
17
7,674,252
7,674,252
Pathogenic
C
T
true
reverse
13,238
958
958
622,595
NM_000546.6(TP53):c.711G>T (p.Met237Ile)
TP53
17
7,674,252
7,674,252
Pathogenic/Likely pathogenic
C
A
true
reverse
13,238
414
414
363,456
NM_000546.6(TP53):c.712T>G (p.Cys238Gly)
TP53
17
7,674,251
7,674,251
Pathogenic
A
C
true
reverse
13,239
413
413
363,455
NM_000546.6(TP53):c.712T>C (p.Cys238Arg)
TP53
17
7,674,251
7,674,251
Pathogenic/Likely pathogenic
A
G
true
reverse
13,239
412
412
363,454
NM_000546.6(TP53):c.713G>C (p.Cys238Ser)
TP53
17
7,674,250
7,674,250
Pathogenic/Likely pathogenic
C
G
true
reverse
13,240
411
411
363,453
NM_000546.6(TP53):c.713G>T (p.Cys238Phe)
TP53
17
7,674,250
7,674,250
Pathogenic/Likely pathogenic
C
A
true
reverse
13,240
158
158
181,000
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)
TP53
17
7,674,250
7,674,250
Pathogenic/Likely pathogenic
C
T
true
reverse
13,240
142
142
171,615
NM_000546.6(TP53):c.714T>G (p.Cys238Trp)
TP53
17
7,674,249
7,674,249
Pathogenic/Likely pathogenic
A
C
true
reverse
13,241
1,632
1,632
3,385,602
NM_000546.6(TP53):c.714T>A (p.Cys238Ter)
TP53
17
7,674,249
7,674,249
Pathogenic
A
T
true
reverse
13,241
463
463
363,516
NM_000546.6(TP53):c.716A>G (p.Asn239Ser)
TP53
17
7,674,247
7,674,247
Likely pathogenic
T
C
true
reverse
13,243
752
752
480,026
NM_000546.6(TP53):c.717C>T (p.Asn239=)
TP53
17
7,674,246
7,674,246
Likely benign
G
A
false
reverse
13,244
907
907
576,031
NM_000546.6(TP53):c.718A>G (p.Ser240Gly)
TP53
17
7,674,245
7,674,245
Pathogenic/Likely pathogenic
T
C
true
reverse
13,245
1,074
1,074
814,472
NM_000546.6(TP53):c.718A>C (p.Ser240Arg)
TP53
17
7,674,245
7,674,245
Likely pathogenic
T
G
true
reverse
13,245
1,526
1,526
2,667,997
NM_000546.6(TP53):c.719G>A (p.Ser240Asn)
TP53
17
7,674,244
7,674,244
Pathogenic
C
T
true
reverse
13,246
1,504
1,504
2,150,562
NM_000546.6(TP53):c.720T>C (p.Ser240=)
TP53
17
7,674,243
7,674,243
Likely benign
A
G
false
reverse
13,247
1,181
1,181
950,308
NM_000546.6(TP53):c.721T>A (p.Ser241Thr)
TP53
17
7,674,242
7,674,242
Pathogenic/Likely pathogenic
A
T
true
reverse
13,248
12
12
27,398
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
TP53
17
7,674,241
7,674,241
Pathogenic/Likely pathogenic
G
A
true
reverse
13,249
486
486
363,542
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr)
TP53
17
7,674,241
7,674,241
Pathogenic/Likely pathogenic
G
T
true
reverse
13,249
144
144
176,503
NM_000546.6(TP53):c.722C>G (p.Ser241Cys)
TP53
17
7,674,241
7,674,241
Pathogenic/Likely pathogenic
G
C
true
reverse
13,249
1,399
1,399
1,812,732
NM_000546.6(TP53):c.723C>T (p.Ser241=)
TP53
17
7,674,240
7,674,240
Likely benign
G
A
false
reverse
13,250
7
7
27,393
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)
TP53
17
7,674,238
7,674,238
Pathogenic/Likely pathogenic
C
T
true
reverse
13,252
1,465
1,465
1,903,534
NM_000546.6(TP53):c.726C>T (p.Cys242=)
TP53
17
7,674,237
7,674,237
Likely benign
G
A
false
reverse
13,253
417
417
363,459
NM_000546.6(TP53):c.726C>G (p.Cys242Trp)
TP53
17
7,674,237
7,674,237
Pathogenic
G
C
true
reverse
13,253
1,310
1,310
1,504,398
NM_000546.6(TP53):c.726C>A (p.Cys242Ter)
TP53
17
7,674,237
7,674,237
Pathogenic
G
T
true
reverse
13,253
435
435
363,481
NM_000546.6(TP53):c.730G>C (p.Gly244Arg)
TP53
17
7,674,233
7,674,233
Likely pathogenic
C
G
true
reverse
13,257
433
433
363,479
NM_000546.6(TP53):c.730G>A (p.Gly244Ser)
TP53
17
7,674,233
7,674,233
Pathogenic
C
T
true
reverse
13,257
657
657
467,518
NM_000546.6(TP53):c.731G>C (p.Gly244Ala)
TP53
17
7,674,232
7,674,232
Pathogenic/Likely pathogenic
C
G
true
reverse
13,258
434
434
363,480
NM_000546.6(TP53):c.731G>T (p.Gly244Val)
TP53
17
7,674,232
7,674,232
Likely pathogenic
C
A
true
reverse
13,258
393
393
360,335
NM_000546.6(TP53):c.731G>A (p.Gly244Asp)
TP53
17
7,674,232
7,674,232
Pathogenic/Likely pathogenic
C
T
true
reverse
13,258
1,216
1,216
1,105,423
NM_000546.6(TP53):c.732C>A (p.Gly244=)
TP53
17
7,674,231
7,674,231
Likely benign
G
T
false
reverse
13,259
278
278
222,737
NM_000546.6(TP53):c.732C>T (p.Gly244=)
TP53
17
7,674,231
7,674,231
Likely benign
G
A
false
reverse
13,259
15
15
27,404
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
TP53
17
7,674,230
7,674,230
Pathogenic
C
T
true
reverse
13,260
2
2
27,388
NM_000546.6(TP53):c.733G>T (p.Gly245Cys)
TP53
17
7,674,230
7,674,230
Pathogenic
C
A
true
reverse
13,260
436
436
363,482
NM_000546.6(TP53):c.734G>T (p.Gly245Val)
TP53
17
7,674,229
7,674,229
Pathogenic
C
A
true
reverse
13,261