variant_key
stringlengths
16
9.31k
gene
stringclasses
10 values
chrom
stringclasses
7 values
pos
int64
1.25M
190M
ref
stringlengths
1
9.3k
alt
stringclasses
905 values
region_type
stringclasses
10 values
delta
float64
-0.12
0.41
ref_score
float64
-1.19
-0.51
alt_score
float64
-1.2
-0.5
clinvar_class
stringclasses
13 values
clinvar_stars
int64
0
3
chr17:43039470:G>A
BRCA1
chr17
43,039,470
G
A
intergenic
0.000348
-1.036411
-1.036064
B/LB
3
chr17:43039817:G>A
BRCA1
chr17
43,039,817
G
A
intergenic
-0.000113
-1.037307
-1.037419
B/LB
3
chr17:43039998:C>CAT
BRCA1
chr17
43,039,998
C
CAT
intergenic
0.000043
-1.043535
-1.043492
B/LB
3
chr17:43040164:C>T
BRCA1
chr17
43,040,164
C
T
intergenic
0.000543
-1.051824
-1.051281
B/LB
3
chr17:43041128:C>G
BRCA1
chr17
43,041,128
C
G
intergenic
-0.000341
-1.062355
-1.062696
B/LB
3
chr17:43041406:A>T
BRCA1
chr17
43,041,406
A
T
intergenic
-0.000544
-1.077332
-1.077876
B/LB
3
chr17:43041621:G>T
BRCA1
chr17
43,041,621
G
T
intergenic
-0.000479
-1.095144
-1.095623
B/LB
3
chr17:43041659:TGGCCCCACCTGTCTGGGATTCAGTGGGTCTGGGAATTTGCATATCTAACAAATTCCTAGGTGATGGTGTTGCCCCCTCACACTCCTATCAGGGGATCATGCTTTGAGAGCCTCTGCACTGAACTGTAAATGTTAAGCTGTCATATCATTTTGAGTCCTTGAAACCATGTCTCCACAGTTCATATTCCCCAGCCACCAGAGTCGGGAGGATCTCTCTCCAGATCTTGATTCCTACCAGTCCCTTAAACAATTGCTTACATTTTCCTGATCCTCCAGACATTCAGGATCAGCCCCTCTACACCTCC...
BRCA1
chr17
43,041,659
TGGCCCCACCTGTCTGGGATTCAGTGGGTCTGGGAATTTGCATATCTAACAAATTCCTAGGTGATGGTGTTGCCCCCTCACACTCCTATCAGGGGATCATGCTTTGAGAGCCTCTGCACTGAACTGTAAATGTTAAGCTGTCATATCATTTTGAGTCCTTGAAACCATGTCTCCACAGTTCATATTCCCCAGCCACCAGAGTCGGGAGGATCTCTCTCCAGATCTTGATTCCTACCAGTCCCTTAAACAATTGCTTACATTTTCCTGATCCTCCAGACATTCAGGATCAGCCCCTCTACACCTCCCCAATCCCTGCTCTC...
CTGTG
intergenic
0.145825
-1.096811
-0.950986
P/LP
0
chr17:43041661:GCCCCACCTGTCTGGGATTCAGTGGGTCTGGGAATTTGCATATCTAACAAATTCCTAGGTGATGGTGTTGCCCCCTCACACTCCTATCAGGGGATCATGCTTTGAGAGCCTCTGCACTGAACTGTAAATGTTAAGCTGTCATATCATTTTGAGTCCTTGAAACCATGTCTCCACAGTTCATATTCCCCAGCCACCAGAGTCGGGAGGATCTCTCTCCAGATCTTGATTCCTACCAGTCCCTTAAACAATTGCTTACATTTTCCTGATCCTCCAGACATTCAGGATCAGCCCCTCTACACCTCCCC...
BRCA1
chr17
43,041,661
GCCCCACCTGTCTGGGATTCAGTGGGTCTGGGAATTTGCATATCTAACAAATTCCTAGGTGATGGTGTTGCCCCCTCACACTCCTATCAGGGGATCATGCTTTGAGAGCCTCTGCACTGAACTGTAAATGTTAAGCTGTCATATCATTTTGAGTCCTTGAAACCATGTCTCCACAGTTCATATTCCCCAGCCACCAGAGTCGGGAGGATCTCTCTCCAGATCTTGATTCCTACCAGTCCCTTAAACAATTGCTTACATTTTCCTGATCCTCCAGACATTCAGGATCAGCCCCTCTACACCTCCCCAATCCCTGCTCTCCA...
TG
intergenic
0.14537
-1.096844
-0.951474
P/LP
1
chr17:43041892:A>T
BRCA1
chr17
43,041,892
A
T
intergenic
0.000119
-1.092075
-1.091956
B/LB
3
chr17:43042867:T>C
BRCA1
chr17
43,042,867
T
C
intergenic
0.000119
-1.021368
-1.021249
B/LB
3
chr17:43043007:T>A
BRCA1
chr17
43,043,007
T
A
intergenic
-0.000133
-1.034506
-1.034639
B/LB
3
chr17:43043075:G>A
BRCA1
chr17
43,043,075
G
A
intergenic
-0.00005
-1.036902
-1.036952
B/LB
3
chr17:43043693:G>C
BRCA1
chr17
43,043,693
G
C
intergenic
0.000366
-1.00798
-1.007613
B/LB
3
chr17:43043755:A>G
BRCA1
chr17
43,043,755
A
G
intergenic
-0.000217
-0.999423
-0.99964
B/LB
3
chr17:43044292:GGTGGAAGTGTTTGCTACCAAGTTTATTTGCAGTGTTAACAGCACAACATTTACAAAACGTATTTTGTACAATCAAGTCTTCACTGCCCTTGCACACTGGGGGGGCTAGGGAAGACCTAGTCCTTCCAACAGCTATAAACAGTCCTGGATAATGGGTTTATGAAAAACACTTTTTCTTCCTTCAGCAAGCAAAATTATTTATGAAGCTGTATGGTTTCAGCAACAGGGAGCAAAGGAAAAAAATCACCTCAAAGAAAGCAACAGCTTCCTTCCTGGTGGGATCTGTCATTTTATAGATATGAAAT...
BRCA1
chr17
43,044,292
GGTGGAAGTGTTTGCTACCAAGTTTATTTGCAGTGTTAACAGCACAACATTTACAAAACGTATTTTGTACAATCAAGTCTTCACTGCCCTTGCACACTGGGGGGGCTAGGGAAGACCTAGTCCTTCCAACAGCTATAAACAGTCCTGGATAATGGGTTTATGAAAAACACTTTTTCTTCCTTCAGCAAGCAAAATTATTTATGAAGCTGTATGGTTTCAGCAACAGGGAGCAAAGGAAAAAAATCACCTCAAAGAAAGCAACAGCTTCCTTCCTGGTGGGATCTGTCATTTTATAGATATGAAATATTCATGCCAGAGGT...
G
intergenic
0.002094
-0.965825
-0.963732
P/LP
1
chr17:43044314:T>A
BRCA1
chr17
43,044,314
T
A
utr3
-0.000284
-0.966384
-0.966668
VUS
1
chr17:43044319:T>C
BRCA1
chr17
43,044,319
T
C
utr3
-0.000175
-0.967059
-0.967234
VUS
1
chr17:43044334:CACA>C
BRCA1
chr17
43,044,334
CACA
C
utr3
0.000625
-0.967504
-0.966879
VUS
2
chr17:43044341:T>C
BRCA1
chr17
43,044,341
T
C
utr3
-0.000227
-0.966875
-0.967102
VUS
1
chr17:43044345:C>T
BRCA1
chr17
43,044,345
C
T
utr3
-0.000045
-0.966843
-0.966889
B/LB
3
chr17:43044350:C>T
BRCA1
chr17
43,044,350
C
T
utr3
0.000038
-0.966756
-0.966718
B/LB
3
chr17:43044385:A>G
BRCA1
chr17
43,044,385
A
G
utr3
-0.000446
-0.966806
-0.967253
VUS
1
chr17:43044390:G>A
BRCA1
chr17
43,044,390
G
A
utr3
-0.000023
-0.966703
-0.966726
B/LB
3
chr17:43044391:G>A
BRCA1
chr17
43,044,391
G
A
utr3
0.000261
-0.966655
-0.966394
B/LB
1
chr17:43044396:G>A
BRCA1
chr17
43,044,396
G
A
utr3
0.000152
-0.96697
-0.966818
VUS
1
chr17:43044405:G>A
BRCA1
chr17
43,044,405
G
A
utr3
-0.000023
-0.96722
-0.967243
VUS
1
chr17:43044405:GACC>G
BRCA1
chr17
43,044,405
GACC
G
utr3
0.000195
-0.96722
-0.967025
VUS
1
chr17:43044406:A>G
BRCA1
chr17
43,044,406
A
G
utr3
0.000042
-0.967242
-0.967199
Conflicting_classifications_of_pathogenicity
1
chr17:43044491:T>C
BRCA1
chr17
43,044,491
T
C
utr3
0.000003
-0.966904
-0.966901
VUS
1
chr17:43044538:C>A
BRCA1
chr17
43,044,538
C
A
utr3
0.000072
-0.963518
-0.963446
B/LB
1
chr17:43044538:C>T
BRCA1
chr17
43,044,538
C
T
utr3
-0.000008
-0.963518
-0.963526
VUS
1
chr17:43044564:C>T
BRCA1
chr17
43,044,564
C
T
utr3
-0.000029
-0.961105
-0.961134
B/LB
3
chr17:43044591:T>G
BRCA1
chr17
43,044,591
T
G
utr3
-0.000123
-0.95993
-0.960053
VUS
1
chr17:43044723:T>G
BRCA1
chr17
43,044,723
T
G
utr3
0.000016
-0.948382
-0.948365
VUS
1
chr17:43044749:G>A
BRCA1
chr17
43,044,749
G
A
utr3
-0.000035
-0.946825
-0.946861
VUS
1
chr17:43044803:C>CTTTTTTTTT
BRCA1
chr17
43,044,803
C
CTTTTTTTTT
utr3
0.001284
-0.947147
-0.945862
B/LB
1
chr17:43044803:C>CTTTTTTTTTTTTTTTTTTTTTTCT
BRCA1
chr17
43,044,803
C
CTTTTTTTTTTTTTTTTTTTTTTCT
utr3
0.002382
-0.947147
-0.944764
B/LB
1
chr17:43044803:CT>C
BRCA1
chr17
43,044,803
CT
C
utr3
-0.000192
-0.947147
-0.947339
B/LB
3
chr17:43044803:CTT>C
BRCA1
chr17
43,044,803
CTT
C
utr3
-0.000311
-0.947147
-0.947457
VUS
1
chr17:43044803:CTTTTT>C
BRCA1
chr17
43,044,803
CTTTTT
C
utr3
-0.000674
-0.947147
-0.94782
VUS
2
chr17:43044803:CTTTTTTT>C
BRCA1
chr17
43,044,803
CTTTTTTT
C
utr3
-0.001017
-0.947147
-0.948163
VUS
1
chr17:43044818:T>G
BRCA1
chr17
43,044,818
T
G
utr3
-0.000993
-0.947031
-0.948024
VUS
1
chr17:43044877:A>G
BRCA1
chr17
43,044,877
A
G
utr3
-0.000692
-0.94737
-0.948061
VUS
0
chr17:43044885:C>T
BRCA1
chr17
43,044,885
C
T
utr3
-0.000346
-0.947665
-0.948011
B/LB
0
chr17:43044896:G>A
BRCA1
chr17
43,044,896
G
A
utr3
0.000101
-0.947727
-0.947626
B/LB
3
chr17:43044920:AGCCACCTGAGTAGCTGGGATTACAGGTGTCCACCACCATGACCGGCTAATTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCCAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGGTTTCAAGTTTCCTTTTCATTTCTAATACCTGCCTCAGAATTTCCTCCCCAATGTTCCACTCCAACATTTGAGAACTGCCCAAGGACTATTCTGACTTTAAGTCACATAATCGATCCCAAGCAC...
BRCA1
chr17
43,044,920
AGCCACCTGAGTAGCTGGGATTACAGGTGTCCACCACCATGACCGGCTAATTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCTCCAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGGTTTCAAGTTTCCTTTTCATTTCTAATACCTGCCTCAGAATTTCCTCCCCAATGTTCCACTCCAACATTTGAGAACTGCCCAAGGACTATTCTGACTTTAAGTCACATAATCGATCCCAAGCACTCTCCTTCCATTGAA...
A
utr3
-0.006558
-0.947471
-0.954029
P/LP
1
chr17:43044927:T>C
BRCA1
chr17
43,044,927
T
C
utr3
0.000008
-0.947392
-0.947384
B/LB
2
chr17:43044934:C>A
BRCA1
chr17
43,044,934
C
A
utr3
-0.000711
-0.947209
-0.94792
VUS
0
chr17:43044956:C>T
BRCA1
chr17
43,044,956
C
T
utr3
-0.000293
-0.947208
-0.947501
B/LB
0
chr17:43044964:G>A
BRCA1
chr17
43,044,964
G
A
utr3
0.000187
-0.947361
-0.947174
VUS
1
chr17:43044984:G>A
BRCA1
chr17
43,044,984
G
A
utr3
-0.000439
-0.946908
-0.947347
VUS
1
chr17:43044992:G>C
BRCA1
chr17
43,044,992
G
C
utr3
-0.000706
-0.947291
-0.947997
VUS
1
chr17:43044994:G>C
BRCA1
chr17
43,044,994
G
C
utr3
-0.000625
-0.947276
-0.947901
VUS
1
chr17:43045007:TGGCCAGGCTGGTTTCGAACTCCTGACCTCCAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGGTTTCAAGTTTCCTTTTCATTTCTAATACCTGCCTCAGAATTTCCTCCCCAATGTTCCACTCCAACATTTGAGAACTGCCCAAGGACTATTCTGACTTTAAGTCACATAATCGATCCCAAGCACTCTCCTTCCATTGAAGGGTCTGACTCTCTGCCTTTGTGAACACAGGGTTTTAGAGAAGTAAACTTAGGGAAACCAGCTATTCTCTTG...
BRCA1
chr17
43,045,007
TGGCCAGGCTGGTTTCGAACTCCTGACCTCCAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGGTTTCAAGTTTCCTTTTCATTTCTAATACCTGCCTCAGAATTTCCTCCCCAATGTTCCACTCCAACATTTGAGAACTGCCCAAGGACTATTCTGACTTTAAGTCACATAATCGATCCCAAGCACTCTCCTTCCATTGAAGGGTCTGACTCTCTGCCTTTGTGAACACAGGGTTTTAGAGAAGTAAACTTAGGGAAACCAGCTATTCTCTTGAGGCCAAGCCACTCT...
T
utr3
-0.007924
-0.947549
-0.955472
P/LP
1
chr17:43045046:GCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGGTTTCAAGTTTCCTTTTCATTTCTAATACCTGCCTCAGAATTTCCTCCCCAATGTTCCACTCCAACATTTGAGAACTGCCCAAGGACTATTCTGACTTTAAGTCACATAATCGATCCCAAGCACTCTCCTTCCATTGAAGGGTCTGACTCTCTGCCTTTGTGAACACAGGGTTTTAGAGAAGTAAACTTAGGGAAACCAGCTATTCTCTTGAGGCCAAGCCACTCTGTGCTTCCAGCCCTAAGCCAACAA...
BRCA1
chr17
43,045,046
GCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGGTTTCAAGTTTCCTTTTCATTTCTAATACCTGCCTCAGAATTTCCTCCCCAATGTTCCACTCCAACATTTGAGAACTGCCCAAGGACTATTCTGACTTTAAGTCACATAATCGATCCCAAGCACTCTCCTTCCATTGAAGGGTCTGACTCTCTGCCTTTGTGAACACAGGGTTTTAGAGAAGTAAACTTAGGGAAACCAGCTATTCTCTTGAGGCCAAGCCACTCTGTGCTTCCAGCCCTAAGCCAACAACAGCCTGAATAGAAA...
G
utr3
-0.047462
-0.946492
-0.993955
P/LP
0
chr17:43045060:CC>TT
BRCA1
chr17
43,045,060
CC
TT
utr3
-0.000779
-0.945626
-0.946405
VUS
1
chr17:43045082:C>T
BRCA1
chr17
43,045,082
C
T
utr3
0
-0.944199
-0.944199
VUS
1
chr17:43045111:TC>T
BRCA1
chr17
43,045,111
TC
T
utr3
-0.000576
-0.942109
-0.942685
VUS
1
chr17:43045129:C>G
BRCA1
chr17
43,045,129
C
G
utr3
-0.000126
-0.942287
-0.942414
VUS
1
chr17:43045141:T>C
BRCA1
chr17
43,045,141
T
C
utr3
-0.000024
-0.942418
-0.942441
B/LB
0
chr17:43045149:C>G
BRCA1
chr17
43,045,149
C
G
utr3
-0.000427
-0.94255
-0.942977
Conflicting_classifications_of_pathogenicity
1
chr17:43045152:A>G
BRCA1
chr17
43,045,152
A
G
utr3
0.000112
-0.942534
-0.942422
VUS
0
chr17:43045192:C>T
BRCA1
chr17
43,045,192
C
T
utr3
-0.000003
-0.943633
-0.943636
VUS
2
chr17:43045195:A>C
BRCA1
chr17
43,045,195
A
C
utr3
-0.000032
-0.943436
-0.943469
VUS
1
chr17:43045212:C>T
BRCA1
chr17
43,045,212
C
T
utr3
0.000197
-0.944199
-0.944003
VUS
2
chr17:43045256:C>A
BRCA1
chr17
43,045,256
C
A
utr3
-0.000226
-0.949587
-0.949812
B/LB
3
chr17:43045288:TTAGGGAAA>CTCTTGAGGCCAAGCCACTCTGTGCTT
BRCA1
chr17
43,045,288
TTAGGGAAA
CTCTTGAGGCCAAGCCACTCTGTGCTT
utr3
0.001304
-0.952516
-0.951212
VUS
1
chr17:43045290:A>C
BRCA1
chr17
43,045,290
A
C
utr3
-0.000264
-0.953027
-0.953291
VUS
1
chr17:43045368:A>G
BRCA1
chr17
43,045,368
A
G
utr3
-0.000078
-0.962369
-0.962447
VUS
1
chr17:43045371:G>C
BRCA1
chr17
43,045,371
G
C
utr3
-0.000302
-0.962679
-0.962981
VUS
1
chr17:43045386:G>A
BRCA1
chr17
43,045,386
G
A
utr3
0.000047
-0.965181
-0.965134
B/LB
1
chr17:43045405:T>C
BRCA1
chr17
43,045,405
T
C
utr3
0.000148
-0.963153
-0.963005
VUS
1
chr17:43045412:C>T
BRCA1
chr17
43,045,412
C
T
utr3
0.000191
-0.964772
-0.964581
VUS
1
chr17:43045449:T>C
BRCA1
chr17
43,045,449
T
C
utr3
0.000042
-0.962527
-0.962486
B/LB
3
chr17:43045491:C>T
BRCA1
chr17
43,045,491
C
T
utr3
0.000082
-0.969405
-0.969323
VUS
1
chr17:43045541:G>C
BRCA1
chr17
43,045,541
G
C
utr3
-0.000033
-0.970472
-0.970505
VUS
1
chr17:43045551:A>C
BRCA1
chr17
43,045,551
A
C
utr3
0.000123
-0.970213
-0.970091
VUS
1
chr17:43045570:GGACA>G
BRCA1
chr17
43,045,570
GGACA
G
utr3
0.000115
-0.970393
-0.970277
P/LP
0
chr17:43045571:G>A
BRCA1
chr17
43,045,571
G
A
utr3
0.000006
-0.970299
-0.970293
B/LB
1
chr17:43045571:G>C
BRCA1
chr17
43,045,571
G
C
utr3
-0.000011
-0.970299
-0.97031
B/LB
0
chr17:43045572:A>G
BRCA1
chr17
43,045,572
A
G
utr3
0.000044
-0.970352
-0.970308
B/LB
1
chr17:43045573:C>T
BRCA1
chr17
43,045,573
C
T
utr3
-0.000044
-0.970377
-0.970421
B/LB
2
chr17:43045573:CAGT>C
BRCA1
chr17
43,045,573
CAGT
C
utr3
0.000314
-0.970377
-0.970063
VUS
2
chr17:43045578:G>T
BRCA1
chr17
43,045,578
G
T
utr3
-0.000109
-0.970189
-0.970299
B/LB
0
chr17:43045619:G>A
BRCA1
chr17
43,045,619
G
A
utr3
-0.000132
-0.970418
-0.970549
Conflicting_classifications_of_pathogenicity
1
chr17:43045619:G>C
BRCA1
chr17
43,045,619
G
C
utr3
-0.000049
-0.970418
-0.970466
VUS
1
chr17:43045635:A>T
BRCA1
chr17
43,045,635
A
T
utr3
0.000115
-0.970651
-0.970536
VUS
0
chr17:43045638:C>T
BRCA1
chr17
43,045,638
C
T
utr3
-0.000059
-0.970726
-0.970786
B/LB
2
chr17:43045641:G>C
BRCA1
chr17
43,045,641
G
C
utr3
-0.000237
-0.970739
-0.970976
B/LB
3
chr17:43045646:C>T
BRCA1
chr17
43,045,646
C
T
utr3
0.000017
-0.970635
-0.970619
B/LB
1
chr17:43045655:C>G
BRCA1
chr17
43,045,655
C
G
utr3
-0.000009
-0.970025
-0.970034
B/LB
1
chr17:43045657:G>A
BRCA1
chr17
43,045,657
G
A
utr3
-0.000318
-0.970036
-0.970353
B/LB
2
chr17:43045663:G>C
BRCA1
chr17
43,045,663
G
C
utr3
-0.000024
-0.969927
-0.969951
VUS
2
chr17:43045664:T>C
BRCA1
chr17
43,045,664
T
C
utr3
-0.000309
-0.97001
-0.970319
VUS
1
chr17:43045664:T>G
BRCA1
chr17
43,045,664
T
G
utr3
0.000018
-0.97001
-0.969992
B/LB
1
chr17:43045669:G>A
BRCA1
chr17
43,045,669
G
A
utr3
-0.000275
-0.969988
-0.970263
null
0
chr17:43045670:G>C
BRCA1
chr17
43,045,670
G
C
utr3
-0.00034
-0.969954
-0.970294
VUS
1
chr17:43045671:CTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAAT>C
BRCA1
chr17
43,045,671
CTGCAGTCAGTAGTGGCTGTGGGGGATCTGGGGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGGGTCACCACAGGTGCCTCACACATCTGCCCAAT
C
utr3
-0.018992
-0.970017
-0.98901
P/LP
0
chr17:43045673:G>A
BRCA1
chr17
43,045,673
G
A
utr3
-0.000224
-0.970081
-0.970305
Conflicting_classifications_of_pathogenicity
1