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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1
| 31,455,736
| 31,455,736
|
C
|
A
|
chr1_31455736_C_A
| 0.035174
| 0.050998
| 0.052365
|
GENE1766
|
splice_acceptor_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr17
| 62,462,503
| 62,462,503
|
T
|
G
|
rs640652464
| 0.049612
| 0.043199
| 0.047779
|
Unknown
| false
|
|||
chrX
| 148,311,000
| 148,311,000
|
C
|
A
|
rs928488383
| 0.016379
| 0.02099
| 0.024208
|
GENE1845
|
intron_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr7
| 89,427,849
| 89,427,849
|
A
|
C
|
chr7_89427849_A_C
| 0.014308
| 0.017393
| 0.011003
|
GENE406
|
splice_donor_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr10
| 63,397,748
| 63,397,748
|
T
|
C
|
rs70613537
| 0.030046
| 0.036735
| 0.018706
|
GENE563
|
3_prime_UTR_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr8
| 136,133,500
| 136,133,500
|
C
|
A
|
rs203157413
| 0.0443
| 0.05704
| 0.036026
|
GENE525
|
frameshift_variant
|
MODERATE
|
Moderate Impact
| false
|
chr6
| 21,080,105
| 21,080,105
|
T
|
C
|
chr6_21080105_T_C
| 0.008581
| 0.00601
| 0.012829
|
GENE932
|
downstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr10
| 89,234,145
| 89,234,145
|
A
|
C
|
rs20700111
| 0.019628
| 0.014581
| 0.029404
|
GENE613
|
frameshift_variant
|
MODERATE
|
Moderate Impact
| false
|
chr3
| 18,862,188
| 18,862,188
|
A
|
G
|
rs30372409
| 0.04551
| 0.036278
| 0.052619
|
GENE241
|
splice_acceptor_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr8
| 122,344,333
| 122,344,333
|
C
|
G
|
rs107462987
| 0.146696
| 0.078874
| 0.193274
|
GENE1072
|
start_lost
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr2
| 140,489,113
| 140,489,113
|
A
|
G
|
rs180473082
| 0.194114
| 0.201244
| 0.276951
|
GENE1862
|
downstream_gene_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr13
| 70,294,023
| 70,294,023
|
G
|
T
|
chr13_70294023_G_T
| 0.01597
| 0.022997
| 0.020846
|
GENE1675
|
stop_lost
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr8
| 102,844,267
| 102,844,267
|
A
|
T
|
rs439931228
| 0.046895
| 0.070135
| 0.026388
|
GENE1097
|
downstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr8
| 40,762,423
| 40,762,423
|
T
|
C
|
rs578403794
| 0.026737
| 0.039718
| 0.02128
|
GENE1685
|
missense_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr16
| 71,806,974
| 71,806,974
|
C
|
T
|
chr16_71806974_C_T
| 0.035772
| 0.049007
| 0.05115
|
GENE1432
|
5_prime_UTR_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr6
| 75,789,407
| 75,789,407
|
G
|
C
|
rs312979341
| 0.02379
| 0.013765
| 0.015303
|
Unknown
| false
|
|||
chr12
| 123,593,704
| 123,593,704
|
T
|
C
|
rs75489273
| 0.003731
| 0.005043
| 0.001938
|
Unknown
| true
|
|||
chr10
| 119,751,817
| 119,751,817
|
T
|
A
|
rs486984352
| 0.016484
| 0.016905
| 0.020993
|
GENE1999
|
missense_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr14
| 103,678,066
| 103,678,066
|
C
|
T
|
chr14_103678066_C_T
| 0.043006
| 0.038388
| 0.058716
|
Unknown
| false
|
|||
chr12
| 119,225,139
| 119,225,139
|
A
|
G
|
chr12_119225139_A_G
| 0.015396
| 0.019192
| 0.014915
|
Unknown
| false
|
|||
chr2
| 25,418,006
| 25,418,006
|
A
|
C
|
rs494366249
| 0.045542
| 0.048808
| 0.042936
|
GENE48
|
splice_donor_variant
|
MODERATE
|
Moderate Impact
| false
|
chr2
| 55,857,997
| 55,857,997
|
C
|
G
|
chr2_55857997_C_G
| 0.049788
| 0.030013
| 0.029953
|
GENE1369
|
synonymous_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr8
| 46,277,220
| 46,277,220
|
A
|
C
|
rs501879300
| 0.028045
| 0.015633
| 0.024049
|
Unknown
| false
|
|||
chrX
| 41,256,195
| 41,256,195
|
A
|
C
|
rs200757841
| 0.035125
| 0.023808
| 0.050402
|
Unknown
| false
|
|||
chr2
| 79,021,521
| 79,021,521
|
A
|
G
|
rs437158656
| 0.043006
| 0.036957
| 0.040248
|
Unknown
| false
|
|||
chr1
| 58,212,368
| 58,212,368
|
T
|
G
|
rs311407011
| 0.017205
| 0.017111
| 0.023759
|
Unknown
| false
|
|||
chr13
| 81,954,031
| 81,954,031
|
T
|
G
|
chr13_81954031_T_G
| 0.011748
| 0.009626
| 0.012648
|
Unknown
| false
|
|||
chr1
| 105,033,323
| 105,033,323
|
G
|
C
|
chr1_105033323_G_C
| 0.017911
| 0.016753
| 0.020137
|
GENE1644
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr5
| 10,932,674
| 10,932,674
|
G
|
C
|
rs970433197
| 0.005646
| 0.006943
| 0.008103
|
Unknown
| true
|
|||
chr10
| 59,114,605
| 59,114,605
|
A
|
G
|
rs485475545
| 0.010869
| 0.006786
| 0.006295
|
Unknown
| false
|
|||
chrY
| 20,622,951
| 20,622,951
|
T
|
G
|
rs366260023
| 0.036354
| 0.045401
| 0.036306
|
GENE471
|
5_prime_UTR_variant
|
LOW
|
Low/Modifier Impact
| false
|
chrX
| 39,272,945
| 39,272,945
|
G
|
A
|
chrX_39272945_G_A
| 0.048171
| 0.029524
| 0.040755
|
GENE1133
|
stop_gained
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr8
| 51,800,146
| 51,800,146
|
T
|
A
|
rs539426551
| 0.042889
| 0.062795
| 0.029375
|
NF2
|
stop_lost
|
LOW
|
Low/Modifier Impact
| false
|
chr9
| 3,237,711
| 3,237,711
|
G
|
C
|
rs838057655
| 0.046667
| 0.055943
| 0.023823
|
Unknown
| false
|
|||
chr6
| 61,724,162
| 61,724,162
|
G
|
C
|
rs782064027
| 0.019875
| 0.025057
| 0.023579
|
GENE1052
|
start_lost
|
MODERATE
|
Moderate Impact
| false
|
chr20
| 18,857,622
| 18,857,622
|
A
|
G
|
rs587260933
| 0.046601
| 0.025245
| 0.051891
|
Unknown
| false
|
|||
chr4
| 92,264,447
| 92,264,447
|
T
|
G
|
chr4_92264447_T_G
| 0.014487
| 0.007629
| 0.020433
|
GENE129
|
splice_acceptor_variant
|
HIGH
|
High Impact
| false
|
chr1
| 129,511,038
| 129,511,038
|
A
|
C
|
rs57342839
| 0.237157
| 0.21468
| 0.232179
|
Unknown
| false
|
|||
chr6
| 64,577,275
| 64,577,275
|
C
|
T
|
rs989657087
| 0.037273
| 0.040064
| 0.025268
|
Unknown
| false
|
|||
chr11
| 124,934,514
| 124,934,514
|
C
|
A
|
rs386189946
| 0.035376
| 0.050744
| 0.022954
|
GENE1158
|
splice_donor_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr18
| 58,546,560
| 58,546,560
|
A
|
C
|
rs610743542
| 0.03519
| 0.026343
| 0.029439
|
GENE489
|
upstream_gene_variant
|
MODERATE
|
Moderate Impact
| false
|
chr15
| 57,973,898
| 57,973,898
|
T
|
G
|
rs235283251
| 0.043657
| 0.061649
| 0.054815
|
Unknown
| false
|
|||
chr7
| 1,561,720
| 1,561,720
|
A
|
T
|
chr7_1561720_A_T
| 0.003697
| 0.003964
| 0.004654
|
GENE1652
|
upstream_gene_variant
|
LOW
|
Low/Modifier Impact
| true
|
chr12
| 26,460,729
| 26,460,729
|
C
|
T
|
rs307765634
| 0.009791
| 0.009673
| 0.007887
|
GENE815
|
upstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr12
| 110,274,831
| 110,274,831
|
G
|
A
|
rs978009405
| 0.029387
| 0.018645
| 0.030844
|
Unknown
| false
|
|||
chr6
| 146,370,869
| 146,370,869
|
G
|
T
|
rs201741120
| 0.027825
| 0.030442
| 0.019224
|
Unknown
| false
|
|||
chr12
| 75,847,597
| 75,847,597
|
C
|
T
|
rs183000764
| 0.038618
| 0.036586
| 0.052437
|
GENE40
|
upstream_gene_variant
|
MODERATE
|
Moderate Impact
| false
|
chr5
| 13,604,450
| 13,604,450
|
T
|
C
|
rs740531079
| 0.013561
| 0.015196
| 0.013147
|
Unknown
| false
|
|||
chr5
| 99,496,985
| 99,496,985
|
T
|
C
|
rs201884783
| 0.02237
| 0.011397
| 0.024769
|
Unknown
| false
|
|||
chr6
| 49,766,854
| 49,766,854
|
G
|
C
|
rs158135098
| 0.006973
| 0.009122
| 0.004673
|
GENE1549
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr5
| 133,169,008
| 133,169,008
|
G
|
C
|
chr5_133169008_G_C
| 0.177976
| 0.135163
| 0.096642
|
Unknown
| false
|
|||
chr6
| 97,583,695
| 97,583,695
|
G
|
C
|
rs261495030
| 0.001033
| 0.000858
| 0.000628
|
Unknown
| true
|
|||
chr5
| 44,471,566
| 44,471,566
|
G
|
T
|
chr5_44471566_G_T
| 0.025929
| 0.031756
| 0.016132
|
GENE412
|
stop_lost
|
MODERATE
|
Moderate Impact
| false
|
chr3
| 88,636,663
| 88,636,663
|
T
|
C
|
chr3_88636663_T_C
| 0.013428
| 0.006838
| 0.019508
|
GENE7
|
missense_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr1
| 215,342,403
| 215,342,403
|
C
|
T
|
chr1_215342403_C_T
| 0.007404
| 0.00396
| 0.010539
|
GENE265
|
3_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr15
| 92,859,842
| 92,859,842
|
T
|
G
|
chr15_92859842_T_G
| 0.025907
| 0.025564
| 0.020847
|
GENE957
|
stop_gained
|
LOW
|
Low/Modifier Impact
| false
|
chr4
| 157,996,226
| 157,996,226
|
T
|
G
|
rs404442076
| 0.034078
| 0.050489
| 0.042319
|
GENE20
|
upstream_gene_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr2
| 40,476,553
| 40,476,553
|
T
|
C
|
rs59582998
| 0.024863
| 0.024372
| 0.012646
|
GENE1624
|
stop_lost
|
MODERATE
|
Moderate Impact
| false
|
chr9
| 63,648,005
| 63,648,005
|
T
|
G
|
rs655250257
| 0.036802
| 0.046253
| 0.03974
|
Unknown
| false
|
|||
chr1
| 105,667,988
| 105,667,988
|
A
|
G
|
rs962478329
| 0.016619
| 0.011258
| 0.013525
|
GENE627
|
splice_acceptor_variant
|
HIGH
|
High Impact
| false
|
chr2
| 84,700,929
| 84,700,929
|
C
|
A
|
chr2_84700929_C_A
| 0.095859
| 0.068191
| 0.072841
|
GENE1224
|
frameshift_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr11
| 92,095,526
| 92,095,526
|
G
|
A
|
rs386801361
| 0.045686
| 0.050341
| 0.067074
|
Unknown
| false
|
|||
chr19
| 21,032,667
| 21,032,667
|
G
|
A
|
chr19_21032667_G_A
| 0.030602
| 0.017522
| 0.020929
|
GENE402
|
splice_donor_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr8
| 6,073,509
| 6,073,509
|
A
|
G
|
chr8_6073509_A_G
| 0.042201
| 0.040464
| 0.027701
|
GENE230
|
stop_gained
|
LOW
|
Low/Modifier Impact
| false
|
chr13
| 43,419,442
| 43,419,442
|
G
|
C
|
rs528366361
| 0.021391
| 0.021929
| 0.010844
|
GENE1540
|
frameshift_variant
|
MODERATE
|
Moderate Impact
| false
|
chr7
| 62,838,756
| 62,838,756
|
G
|
A
|
rs55645840
| 0.01027
| 0.007531
| 0.014933
|
Unknown
| false
|
|||
chr8
| 68,328,694
| 68,328,694
|
C
|
G
|
chr8_68328694_C_G
| 0.038413
| 0.030209
| 0.022675
|
Unknown
| false
|
|||
chr11
| 21,177,498
| 21,177,498
|
T
|
C
|
chr11_21177498_T_C
| 0.015867
| 0.009191
| 0.020042
|
GENE1166
|
stop_gained
|
MODERATE
|
Moderate Impact
| false
|
chr5
| 118,312,047
| 118,312,047
|
C
|
A
|
rs406373586
| 0.049993
| 0.058163
| 0.032672
|
GENE552
|
splice_acceptor_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr1
| 243,294,492
| 243,294,492
|
A
|
C
|
rs857036907
| 0.279954
| 0.220055
| 0.213553
|
Unknown
| false
|
|||
chr5
| 33,154,348
| 33,154,348
|
T
|
A
|
rs947304717
| 0.031714
| 0.043549
| 0.027819
|
HTT
|
5_prime_UTR_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr6
| 43,911,311
| 43,911,311
|
A
|
T
|
rs531412539
| 0.490289
| 0.391838
| 0.438381
|
GENE1563
|
5_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chrX
| 74,514,061
| 74,514,061
|
C
|
G
|
rs88504706
| 0.048371
| 0.026456
| 0.07248
|
GENE1745
|
splice_donor_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr17
| 56,551,641
| 56,551,641
|
C
|
T
|
chr17_56551641_C_T
| 0.009027
| 0.005777
| 0.009079
|
Unknown
| true
|
|||
chr15
| 99,159,795
| 99,159,795
|
G
|
A
|
rs187357078
| 0.006771
| 0.008473
| 0.00532
|
Unknown
| true
|
|||
chr5
| 36,061,494
| 36,061,494
|
T
|
C
|
rs566160397
| 0.036407
| 0.049506
| 0.032788
|
GENE1081
|
start_lost
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr21
| 40,227,887
| 40,227,887
|
C
|
A
|
rs908999766
| 0.025446
| 0.018021
| 0.016343
|
Unknown
| false
|
|||
chr8
| 14,747,542
| 14,747,542
|
A
|
T
|
chr8_14747542_A_T
| 0.04212
| 0.027277
| 0.028817
|
GENE1909
|
stop_lost
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr6
| 19,786,195
| 19,786,195
|
A
|
T
|
rs795104405
| 0.049304
| 0.026867
| 0.060999
|
GENE673
|
frameshift_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr5
| 141,223,470
| 141,223,470
|
C
|
G
|
chr5_141223470_C_G
| 0.04562
| 0.057312
| 0.024395
|
Unknown
| false
|
|||
chr12
| 66,097,185
| 66,097,185
|
C
|
A
|
chr12_66097185_C_A
| 0.017795
| 0.019671
| 0.011
|
GENE209
|
intron_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr15
| 31,064,026
| 31,064,026
|
T
|
C
|
rs938938970
| 0.007456
| 0.010112
| 0.004805
|
Unknown
| true
|
|||
chrX
| 153,397,986
| 153,397,986
|
C
|
G
|
rs623662390
| 0.264535
| 0.165221
| 0.345485
|
GENE1324
|
frameshift_variant
|
MODERATE
|
Moderate Impact
| false
|
chr21
| 9,997,456
| 9,997,456
|
G
|
T
|
rs727857219
| 0.026372
| 0.024412
| 0.024185
|
GENE303
|
downstream_gene_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr3
| 27,558,111
| 27,558,111
|
C
|
G
|
chr3_27558111_C_G
| 0.042446
| 0.063461
| 0.040686
|
Unknown
| false
|
|||
chr7
| 139,851,166
| 139,851,166
|
G
|
A
|
chr7_139851166_G_A
| 0.019057
| 0.019304
| 0.011546
|
GENE1639
|
upstream_gene_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr22
| 23,131,311
| 23,131,311
|
C
|
A
|
rs374475396
| 0.014269
| 0.018251
| 0.01745
|
GENE1260
|
upstream_gene_variant
|
LOW
|
Low/Modifier Impact
| false
|
chr10
| 111,191,242
| 111,191,242
|
T
|
A
|
rs586751786
| 0.025724
| 0.013577
| 0.027813
|
Unknown
| false
|
|||
chr3
| 16,169,681
| 16,169,681
|
T
|
A
|
rs61260981
| 0.00759
| 0.004999
| 0.006564
|
GENE871
|
downstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
chr16
| 47,689,637
| 47,689,637
|
G
|
A
|
rs939405903
| 0.002888
| 0.003325
| 0.00314
|
GENE295
|
stop_gained
|
LOW
|
Low/Modifier Impact
| true
|
chr18
| 43,882,884
| 43,882,884
|
T
|
G
|
chr18_43882884_T_G
| 0.046805
| 0.02356
| 0.06014
|
GENE203
|
splice_donor_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr4
| 26,415,168
| 26,415,168
|
C
|
G
|
rs68860684
| 0.011122
| 0.014548
| 0.015958
|
GENE1495
|
frameshift_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chrX
| 28,359,070
| 28,359,070
|
A
|
T
|
chrX_28359070_A_T
| 0.018347
| 0.019083
| 0.011421
|
Unknown
| false
|
|||
chrY
| 47,526,689
| 47,526,689
|
C
|
G
|
rs518303367
| 0.025537
| 0.035482
| 0.020566
|
Unknown
| false
|
|||
chr3
| 30,125,745
| 30,125,745
|
C
|
G
|
chr3_30125745_C_G
| 0.030166
| 0.029941
| 0.037421
|
GENE139
|
splice_donor_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr11
| 55,248,347
| 55,248,347
|
A
|
G
|
chr11_55248347_A_G
| 0.028636
| 0.033721
| 0.024979
|
Unknown
| false
|
|||
chr11
| 21,823,990
| 21,823,990
|
C
|
A
|
rs798287269
| 0.048291
| 0.049124
| 0.041465
|
GENE1135
|
splice_acceptor_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr11
| 65,081,739
| 65,081,739
|
G
|
C
|
chr11_65081739_G_C
| 0.40918
| 0.264405
| 0.241101
|
Unknown
| false
|
|||
chr1
| 82,925,272
| 82,925,272
|
A
|
C
|
rs926493239
| 0.022147
| 0.013888
| 0.014598
|
GENE2
|
upstream_gene_variant
|
MODIFIER
|
Low/Modifier Impact
| false
|
chr1
| 48,779,726
| 48,779,726
|
T
|
A
|
chr1_48779726_T_A
| 0.000638
| 0.000807
| 0.00089
|
GENE1879
|
3_prime_UTR_variant
|
MODIFIER
|
Low/Modifier Impact
| true
|
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