Dataset Viewer
reference_name
stringclasses 24
values | start_position
int64 322
249M
| end_position
int64 322
249M
| reference_bases
stringclasses 4
values | alternate_bases
stringclasses 4
values | variant_id
stringlengths 8
19
| allele_frequency
float64 0
0.5
| african_allele_frequency
float64 0
0.74
| european_allele_frequency
float64 0
0.75
| gene_symbol
stringlengths 0
8
| consequence
stringclasses 14
values | impact
stringclasses 5
values | impact_category
stringclasses 4
values | is_rare
bool 2
classes |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr5
| 23,853,035
| 23,853,035
|
G
|
A
|
rs741692835
| 0.043607
| 0.050655
| 0.039057
|
GENE706
|
splice_donor_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr18
| 75,263,592
| 75,263,592
|
C
|
T
|
rs828018279
| 0.02272
| 0.023637
| 0.031725
|
GENE1134
|
5_prime_UTR_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr5
| 81,653,319
| 81,653,319
|
T
|
A
|
chr5_81653319_T_A
| 0.028694
| 0.024957
| 0.026971
|
Unknown
| false
|
|||
chr15
| 26,349,926
| 26,349,926
|
T
|
G
|
rs986918231
| 0.043969
| 0.036025
| 0.036563
|
GENE230
|
intron_variant
|
MODERATE
|
Moderate Impact
| false
|
chr9
| 87,260,325
| 87,260,325
|
T
|
G
|
rs436172305
| 0.022758
| 0.023818
| 0.03155
|
GENE83
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chrY
| 17,075,717
| 17,075,717
|
A
|
C
|
rs743319863
| 0.043386
| 0.048974
| 0.05932
|
GENE455
|
synonymous_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr19
| 18,210,760
| 18,210,760
|
T
|
C
|
rs78565862
| 0.014264
| 0.010828
| 0.015722
|
Unknown
| false
|
|||
chr5
| 11,469,874
| 11,469,874
|
C
|
A
|
chr5_11469874_C_A
| 0.000406
| 0.00048
| 0.000571
|
GENE903
|
upstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr11
| 57,554,825
| 57,554,825
|
G
|
A
|
rs509720350
| 0.02202
| 0.025722
| 0.014634
|
GENE901
|
splice_donor_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr2
| 175,692,486
| 175,692,486
|
A
|
G
|
rs185337489
| 0.005899
| 0.003144
| 0.00666
|
GENE1636
|
frameshift_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr8
| 134,506,109
| 134,506,109
|
A
|
T
|
rs593901348
| 0.045869
| 0.053016
| 0.036722
|
GENE1636
|
start_lost
|
LOW
|
Low/Modifier Impact
| false
|
chr10
| 54,237,883
| 54,237,883
|
A
|
G
|
rs217326508
| 0.00544
| 0.0052
| 0.004312
|
GENE1960
|
splice_donor_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr9
| 48,970,379
| 48,970,379
|
A
|
C
|
rs968278429
| 0.007336
| 0.009673
| 0.00976
|
GENE498
|
stop_gained
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr13
| 2,210,038
| 2,210,038
|
C
|
G
|
rs68501650
| 0.039132
| 0.044526
| 0.030896
|
GENE1395
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr17
| 62,638,756
| 62,638,756
|
G
|
C
|
rs357052012
| 0.040728
| 0.031044
| 0.054419
|
GENE1853
|
start_lost
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr1
| 89,818,303
| 89,818,303
|
C
|
A
|
rs338697504
| 0.015248
| 0.011991
| 0.007984
|
GENE967
|
5_prime_UTR_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr2
| 3,273,947
| 3,273,947
|
T
|
A
|
rs315721074
| 0.005215
| 0.003751
| 0.004068
|
GENE1737
|
start_lost
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr3
| 2,995,546
| 2,995,546
|
A
|
T
|
rs324147236
| 0.036715
| 0.023993
| 0.027759
|
Unknown
| false
|
|||
chr1
| 210,752,271
| 210,752,271
|
T
|
G
|
chr1_210752271_T_G
| 0.014297
| 0.019113
| 0.016217
|
GENE203
|
splice_donor_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr8
| 111,220,280
| 111,220,280
|
G
|
C
|
chr8_111220280_G_C
| 0.042402
| 0.061129
| 0.024866
|
GENE248
|
start_lost
|
LOW
|
Low/Modifier Impact
| false
|
chrX
| 47,931,420
| 47,931,420
|
T
|
C
|
rs613660902
| 0.495698
| 0.312419
| 0.458875
|
Unknown
| false
|
|||
chr4
| 6,185,397
| 6,185,397
|
C
|
T
|
rs641790296
| 0.019329
| 0.024847
| 0.027574
|
GENE236
|
intron_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr2
| 128,061,356
| 128,061,356
|
A
|
T
|
rs376220698
| 0.04107
| 0.048624
| 0.060306
|
Unknown
| false
|
|||
chr16
| 75,265,133
| 75,265,133
|
G
|
C
|
chr16_75265133_G_C
| 0.044322
| 0.042356
| 0.049501
|
Unknown
| false
|
|||
chr1
| 97,374,595
| 97,374,595
|
C
|
A
|
rs704938467
| 0.457797
| 0.412788
| 0.497636
|
GENE144
|
splice_acceptor_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr3
| 175,757,078
| 175,757,078
|
A
|
G
|
rs109899917
| 0.030298
| 0.019758
| 0.033384
|
GENE1815
|
stop_gained
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr9
| 137,562,140
| 137,562,140
|
C
|
A
|
rs430793282
| 0.021895
| 0.027
| 0.023133
|
GENE1891
|
missense_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr3
| 59,921,085
| 59,921,085
|
T
|
A
|
chr3_59921085_T_A
| 0.049906
| 0.063022
| 0.026638
|
GENE544
|
intron_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr4
| 96,665,816
| 96,665,816
|
G
|
C
|
rs111635217
| 0.042285
| 0.036805
| 0.024127
|
Unknown
| false
|
|||
chr7
| 33,566,276
| 33,566,276
|
A
|
T
|
rs81544164
| 0.004984
| 0.004371
| 0.005776
|
GENE325
|
downstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr16
| 30,087,394
| 30,087,394
|
C
|
A
|
rs118700017
| 0.040553
| 0.044089
| 0.054976
|
GENE1193
|
stop_gained
|
MODERATE
|
Moderate Impact
| false
|
chr1
| 110,141,334
| 110,141,334
|
T
|
C
|
rs324131043
| 0.038231
| 0.035125
| 0.030429
|
Unknown
| false
|
|||
chr3
| 45,963,638
| 45,963,638
|
A
|
T
|
rs520603607
| 0.041534
| 0.051204
| 0.051977
|
NF1
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr10
| 11,813,097
| 11,813,097
|
G
|
T
|
chr10_11813097_G_T
| 0.14266
| 0.180401
| 0.124289
|
GENE634
|
synonymous_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr14
| 26,928,868
| 26,928,868
|
A
|
T
|
rs946544769
| 0.0038
| 0.004851
| 0.002622
|
GENE1932
|
stop_lost
|
LOW
|
Low/Modifier Impact
| true
|
chr4
| 26,401,798
| 26,401,798
|
A
|
T
|
rs676184781
| 0.039807
| 0.056617
| 0.033457
|
GENE667
|
downstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr16
| 39,703,175
| 39,703,175
|
G
|
A
|
chr16_39703175_G_A
| 0.003643
| 0.004195
| 0.00478
|
GENE1773
|
splice_donor_variant
|
MODERATE
|
Moderate Impact
| true
|
chr2
| 208,612,968
| 208,612,968
|
G
|
C
|
rs472511587
| 0.033597
| 0.034907
| 0.029656
|
GENE1206
|
start_lost
|
LOW
|
Low/Modifier Impact
| false
|
chr7
| 58,534,673
| 58,534,673
|
A
|
C
|
rs854295331
| 0.014814
| 0.018572
| 0.012447
|
Unknown
| false
|
|||
chr9
| 80,653,231
| 80,653,231
|
A
|
G
|
chr9_80653231_A_G
| 0.014219
| 0.008297
| 0.020178
|
Unknown
| false
|
|||
chr10
| 12,631,676
| 12,631,676
|
C
|
G
|
rs258539020
| 0.029429
| 0.043738
| 0.025993
|
GENE324
|
synonymous_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr11
| 7,996,080
| 7,996,080
|
C
|
A
|
rs434037210
| 0.001803
| 0.001553
| 0.001727
|
Unknown
| true
|
|||
chr4
| 171,584,725
| 171,584,725
|
A
|
G
|
rs503063709
| 0.043404
| 0.041554
| 0.022192
|
Unknown
| false
|
|||
chr1
| 58,320,479
| 58,320,479
|
G
|
T
|
chr1_58320479_G_T
| 0.02413
| 0.029847
| 0.016446
|
GENE1585
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr9
| 37,481,419
| 37,481,419
|
G
|
T
|
chr9_37481419_G_T
| 0.01486
| 0.021081
| 0.019854
|
GENE1207
|
splice_acceptor_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr11
| 2,943,749
| 2,943,749
|
C
|
G
|
rs401262735
| 0.397745
| 0.503573
| 0.559131
|
Unknown
| false
|
|||
chr5
| 113,871,850
| 113,871,850
|
A
|
C
|
chr5_113871850_A_C
| 0.025158
| 0.037438
| 0.030615
|
GENE1867
|
intron_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr1
| 172,995,272
| 172,995,272
|
C
|
A
|
chr1_172995272_C_A
| 0.213934
| 0.250899
| 0.222818
|
GENE619
|
stop_gained
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr6
| 158,829,134
| 158,829,134
|
G
|
A
|
rs952137259
| 0.012896
| 0.012452
| 0.006646
|
GENE1382
|
start_lost
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr5
| 10,750,219
| 10,750,219
|
G
|
C
|
rs92373647
| 0.477213
| 0.701691
| 0.425427
|
GENE1218
|
synonymous_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr5
| 72,318,030
| 72,318,030
|
T
|
G
|
chr5_72318030_T_G
| 0.043837
| 0.024003
| 0.062781
|
GENE417
|
3_prime_UTR_variant
|
HIGH
|
High Impact
| false
|
chr19
| 53,112,373
| 53,112,373
|
T
|
C
|
rs956207718
| 0.047303
| 0.054099
| 0.043038
|
Unknown
| false
|
|||
chr5
| 157,066,833
| 157,066,833
|
C
|
A
|
rs903354503
| 0.007072
| 0.009536
| 0.00972
|
GENE1590
|
upstream_gene_variant
|
LOW
|
Low/Modifier Impact
| true
|
chr11
| 127,246,681
| 127,246,681
|
A
|
T
|
chr11_127246681_A_T
| 0.007348
| 0.006423
| 0.006709
|
GENE204
|
synonymous_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr9
| 129,542,512
| 129,542,512
|
T
|
G
|
chr9_129542512_T_G
| 0.030163
| 0.024093
| 0.021359
|
GENE129
|
start_lost
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr5
| 110,713,458
| 110,713,458
|
T
|
C
|
chr5_110713458_T_C
| 0.014887
| 0.00771
| 0.008657
|
GENE1596
|
start_lost
|
LOW
|
Low/Modifier Impact
| false
|
chrX
| 124,647,156
| 124,647,156
|
A
|
C
|
rs746124593
| 0.005284
| 0.004264
| 0.005734
|
Unknown
| true
|
|||
chr9
| 34,137,299
| 34,137,299
|
C
|
A
|
chr9_34137299_C_A
| 0.016448
| 0.022053
| 0.021193
|
GENE458
|
3_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr10
| 84,007,138
| 84,007,138
|
C
|
T
|
chr10_84007138_C_T
| 0.013341
| 0.009964
| 0.009001
|
Unknown
| false
|
|||
chr15
| 93,739,917
| 93,739,917
|
A
|
G
|
rs368682560
| 0.021169
| 0.020045
| 0.031126
|
Unknown
| false
|
|||
chr16
| 27,883,662
| 27,883,662
|
T
|
C
|
chr16_27883662_T_C
| 0.03841
| 0.020718
| 0.050739
|
GENE1358
|
stop_lost
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr6
| 14,169,213
| 14,169,213
|
G
|
T
|
rs978417683
| 0.186769
| 0.13305
| 0.276888
|
GENE749
|
synonymous_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr1
| 248,452,294
| 248,452,294
|
G
|
A
|
rs726614869
| 0.018888
| 0.016469
| 0.015025
|
GENE666
|
start_lost
|
LOW
|
Low/Modifier Impact
| false
|
chr3
| 118,013,622
| 118,013,622
|
C
|
A
|
rs853569409
| 0.291792
| 0.161102
| 0.242483
|
GENE1629
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr10
| 89,802,667
| 89,802,667
|
T
|
G
|
chr10_89802667_T_G
| 0.006975
| 0.005477
| 0.004468
|
GENE348
|
downstream_gene_variant
|
MODERATE
|
Moderate Impact
| true
|
chr21
| 7,685,707
| 7,685,707
|
A
|
C
|
chr21_7685707_A_C
| 0.04723
| 0.056666
| 0.042709
|
Unknown
| false
|
|||
chr5
| 24,199,503
| 24,199,503
|
C
|
A
|
rs18133755
| 0.001654
| 0.001171
| 0.002236
|
GENE1834
|
intron_variant
|
MODERATE
|
Moderate Impact
| true
|
chr4
| 166,194,183
| 166,194,183
|
G
|
C
|
rs518480133
| 0.0121
| 0.00811
| 0.008737
|
GENE430
|
upstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr1
| 184,299,945
| 184,299,945
|
T
|
G
|
chr1_184299945_T_G
| 0.018729
| 0.022446
| 0.017133
|
Unknown
| false
|
|||
chr19
| 42,462,615
| 42,462,615
|
T
|
G
|
rs456967935
| 0.03242
| 0.027741
| 0.035848
|
Unknown
| false
|
|||
chr12
| 44,835,008
| 44,835,008
|
C
|
G
|
chr12_44835008_C_G
| 0.024298
| 0.022574
| 0.01804
|
Unknown
| false
|
|||
chr3
| 29,063,209
| 29,063,209
|
C
|
T
|
rs694700200
| 0.484573
| 0.549305
| 0.548695
|
Unknown
| false
|
|||
chr17
| 73,204,681
| 73,204,681
|
G
|
A
|
rs323417067
| 0.024097
| 0.016499
| 0.01917
|
Unknown
| false
|
|||
chr9
| 107,981,811
| 107,981,811
|
G
|
A
|
chr9_107981811_G_A
| 0.048944
| 0.032503
| 0.045992
|
GENE450
|
missense_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr2
| 185,792,744
| 185,792,744
|
A
|
C
|
rs622448793
| 0.04595
| 0.040374
| 0.035795
|
Unknown
| false
|
|||
chr6
| 67,839,521
| 67,839,521
|
A
|
T
|
chr6_67839521_A_T
| 0.009163
| 0.010503
| 0.00728
|
GENE168
|
missense_variant
|
LOW
|
Low/Modifier Impact
| true
|
chr5
| 163,852,896
| 163,852,896
|
A
|
T
|
chr5_163852896_A_T
| 0.005249
| 0.003259
| 0.00317
|
Unknown
| true
|
|||
chr12
| 129,776,550
| 129,776,550
|
C
|
G
|
chr12_129776550_C_G
| 0.089526
| 0.107541
| 0.097264
|
Unknown
| false
|
|||
chr2
| 34,519,674
| 34,519,674
|
C
|
A
|
chr2_34519674_C_A
| 0.005617
| 0.006745
| 0.003636
|
Unknown
| true
|
|||
chr11
| 18,343,988
| 18,343,988
|
G
|
C
|
chr11_18343988_G_C
| 0.232741
| 0.223222
| 0.250435
|
Unknown
| false
|
|||
chr11
| 123,798,479
| 123,798,479
|
T
|
A
|
chr11_123798479_T_A
| 0.040037
| 0.022399
| 0.040468
|
GENE461
|
3_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr3
| 60,217,374
| 60,217,374
|
A
|
T
|
rs476016470
| 0.046398
| 0.042527
| 0.066747
|
GENE1599
|
intron_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr18
| 79,535,749
| 79,535,749
|
C
|
G
|
chr18_79535749_C_G
| 0.031291
| 0.045644
| 0.042446
|
GENE472
|
missense_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr1
| 26,016,355
| 26,016,355
|
T
|
C
|
rs439397843
| 0.010933
| 0.009392
| 0.016006
|
GENE1228
|
frameshift_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr9
| 221,803
| 221,803
|
T
|
A
|
chr9_221803_T_A
| 0.025419
| 0.016656
| 0.027614
|
GENE1139
|
stop_lost
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr4
| 110,172,379
| 110,172,379
|
C
|
G
|
rs248134300
| 0.311379
| 0.308104
| 0.321563
|
GENE1920
|
stop_lost
|
LOW
|
Low/Modifier Impact
| false
|
chr7
| 115,724,666
| 115,724,666
|
G
|
C
|
rs623183610
| 0.017649
| 0.025473
| 0.015989
|
GENE1426
|
synonymous_variant
|
MODERATE
|
Moderate Impact
| false
|
chr9
| 20,201,395
| 20,201,395
|
C
|
T
|
rs147513078
| 0.400043
| 0.259594
| 0.541701
|
GENE439
|
missense_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr2
| 81,754,074
| 81,754,074
|
A
|
G
|
chr2_81754074_A_G
| 0.028452
| 0.021579
| 0.024764
|
GENE244
|
start_lost
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr13
| 73,868,141
| 73,868,141
|
G
|
T
|
rs802547778
| 0.04679
| 0.051242
| 0.06298
|
GENE1799
|
3_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr2
| 70,631,083
| 70,631,083
|
T
|
G
|
rs968560695
| 0.005382
| 0.005583
| 0.003925
|
GENE1076
|
upstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr21
| 3,697,267
| 3,697,267
|
T
|
A
|
rs332080762
| 0.005264
| 0.007571
| 0.00352
|
GENE1803
|
splice_acceptor_variant
|
HIGH
|
High Impact
| true
|
chr10
| 93,383,308
| 93,383,308
|
A
|
G
|
rs612932711
| 0.01416
| 0.02058
| 0.010163
|
Unknown
| false
|
|||
chr8
| 40,190,674
| 40,190,674
|
A
|
T
|
rs684858892
| 0.487824
| 0.471373
| 0.50739
|
GENE1748
|
start_lost
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr7
| 141,250,428
| 141,250,428
|
C
|
A
|
rs194972528
| 0.018043
| 0.018903
| 0.014097
|
GENE385
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr1
| 122,014,428
| 122,014,428
|
A
|
G
|
rs938795202
| 0.023833
| 0.018813
| 0.028965
|
Unknown
| false
|
|||
chr14
| 15,723,789
| 15,723,789
|
A
|
T
|
rs95098127
| 0.042556
| 0.048284
| 0.049336
|
Unknown
| false
|
|||
chr18
| 41,304,146
| 41,304,146
|
T
|
A
|
rs889864831
| 0.021168
| 0.023009
| 0.01594
|
GENE951
|
splice_donor_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr22
| 33,698,290
| 33,698,290
|
T
|
G
|
rs866605134
| 0.030159
| 0.035229
| 0.042274
|
GENE81
|
intron_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chrY
| 12,756,842
| 12,756,842
|
G
|
T
|
rs928749702
| 0.027013
| 0.022871
| 0.025168
|
Unknown
| false
|
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