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