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
chr6
88,519,805
88,519,805
T
C
chr6_88519805_T_C
0.003903
0.003168
0.004649
Unknown
true
chr17
16,364,380
16,364,380
T
A
chr17_16364380_T_A
0.049876
0.048894
0.044152
GENE987
missense_variant
MODIFIER
Low/Modifier Impact
false
chr5
70,945,747
70,945,747
A
T
rs792932204
0.044134
0.046446
0.045716
GENE1330
3_prime_UTR_variant
LOW
Low/Modifier Impact
false
chr12
114,302,129
114,302,129
C
G
rs393392014
0.003928
0.005145
0.001971
Unknown
true
chr12
120,236,002
120,236,002
G
A
rs178754860
0.030533
0.026836
0.031561
GENE1128
3_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr11
131,291,309
131,291,309
T
G
chr11_131291309_T_G
0.03077
0.036778
0.016206
GENE1291
splice_acceptor_variant
LOW
Low/Modifier Impact
false
chr11
20,175,036
20,175,036
T
C
chr11_20175036_T_C
0.038256
0.033918
0.019484
GENE875
missense_variant
HIGH
High Impact
false
chr3
131,847,088
131,847,088
C
G
chr3_131847088_C_G
0.003573
0.003799
0.002787
Unknown
true
chr13
38,304,635
38,304,635
G
A
rs340640199
0.369952
0.225858
0.500569
GENE836
synonymous_variant
MODERATE
Moderate Impact
false
chrY
34,827,045
34,827,045
T
G
chrY_34827045_T_G
0.020123
0.013715
0.020963
GENE923
stop_lost
MODIFIER
Low/Modifier Impact
false
chr7
57,922,089
57,922,089
G
T
chr7_57922089_G_T
0.008297
0.008572
0.007453
GENE1555
synonymous_variant
LOW
Low/Modifier Impact
true
chr4
91,279,253
91,279,253
G
A
rs839713864
0.030413
0.022965
0.015475
GENE796
5_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr2
36,593,828
36,593,828
A
C
rs286822241
0.031325
0.043896
0.025195
GENE420
splice_donor_variant
LOW
Low/Modifier Impact
false
chr2
198,219,820
198,219,820
A
G
rs249666368
0.015584
0.012897
0.02163
GENE967
stop_gained
LOW
Low/Modifier Impact
false
chr18
2,088,578
2,088,578
A
G
chr18_2088578_A_G
0.047068
0.039683
0.04607
GENE509
downstream_gene_variant
LOW
Low/Modifier Impact
false
chr3
174,080,073
174,080,073
A
C
rs950588121
0.001357
0.0016
0.000908
Unknown
true
chr12
115,288,099
115,288,099
A
C
rs305450520
0.000884
0.000684
0.000961
GENE895
stop_gained
MODIFIER
Low/Modifier Impact
true
chr1
161,154,686
161,154,686
A
T
rs164757590
0.032224
0.034436
0.040932
GENE1158
3_prime_UTR_variant
LOW
Low/Modifier Impact
false
chr20
8,091,910
8,091,910
G
T
rs554207452
0.040829
0.030189
0.031894
GENE1200
3_prime_UTR_variant
LOW
Low/Modifier Impact
false
chrX
36,440,522
36,440,522
C
A
rs42930737
0.002682
0.002768
0.003498
GENE521
frameshift_variant
MODIFIER
Low/Modifier Impact
true
chrX
122,007,380
122,007,380
G
C
rs579021319
0.018364
0.01714
0.016077
Unknown
false
chr6
162,138,067
162,138,067
T
C
chr6_162138067_T_C
0.003881
0.002766
0.005225
GENE604
splice_acceptor_variant
LOW
Low/Modifier Impact
true
chr10
12,324,481
12,324,481
G
C
chr10_12324481_G_C
0.042851
0.055856
0.030362
GENE1508
stop_gained
MODIFIER
Low/Modifier Impact
false
chr14
39,702,081
39,702,081
C
A
rs982004597
0.028876
0.024016
0.024236
Unknown
false
chr1
225,463,026
225,463,026
A
T
rs955141690
0.020026
0.029495
0.010881
GENE563
upstream_gene_variant
MODERATE
Moderate Impact
false
chr15
6,781,853
6,781,853
T
G
rs374557432
0.032305
0.039208
0.040487
Unknown
false
chr14
45,869,971
45,869,971
T
C
rs883188105
0.03801
0.034931
0.021881
Unknown
false
chr13
71,751,824
71,751,824
A
C
rs774504757
0.031851
0.017076
0.042258
GENE1867
stop_lost
MODIFIER
Low/Modifier Impact
false
chr14
65,763,133
65,763,133
T
A
rs313049808
0.008525
0.005001
0.008745
GENE1646
synonymous_variant
MODERATE
Moderate Impact
true
chr5
78,301,673
78,301,673
G
C
chr5_78301673_G_C
0.006565
0.009678
0.00692
GENE755
splice_acceptor_variant
MODIFIER
Low/Modifier Impact
true
chr11
32,732,395
32,732,395
A
T
chr11_32732395_A_T
0.039027
0.028628
0.046888
GENE814
synonymous_variant
MODIFIER
Low/Modifier Impact
false
chr5
143,796,987
143,796,987
T
A
rs483800060
0.013646
0.010841
0.01324
GENE1196
3_prime_UTR_variant
MODERATE
Moderate Impact
false
chr2
211,779,159
211,779,159
G
T
rs547699418
0.024121
0.0258
0.036126
Unknown
false
chr14
43,443,921
43,443,921
C
A
rs424534888
0.04373
0.032067
0.026595
GENE1893
intron_variant
LOW
Low/Modifier Impact
false
chr15
24,613,060
24,613,060
G
A
rs794136821
0.041334
0.033994
0.052782
GENE1876
splice_donor_variant
MODIFIER
Low/Modifier Impact
false
chr1
99,373,050
99,373,050
T
A
rs763976185
0.035817
0.034933
0.021079
Unknown
false
chr17
71,244,773
71,244,773
A
C
rs679541083
0.025575
0.020822
0.021343
Unknown
false
chrX
131,850,846
131,850,846
C
G
chrX_131850846_C_G
0.040111
0.025811
0.053057
GENE551
start_lost
HIGH
High Impact
false
chr2
230,751,234
230,751,234
A
G
rs765799097
0.027257
0.031795
0.0267
GENE25
stop_lost
MODERATE
Moderate Impact
false
chr17
8,952,317
8,952,317
C
T
rs514115785
0.217394
0.214213
0.209706
Unknown
false
chrY
49,956,336
49,956,336
C
G
chrY_49956336_C_G
0.026082
0.026302
0.013419
Unknown
false
chr8
10,360,786
10,360,786
T
A
chr8_10360786_T_A
0.002636
0.001997
0.00381
GENE1741
5_prime_UTR_variant
LOW
Low/Modifier Impact
true
chr5
52,646,826
52,646,826
G
T
rs383097690
0.019686
0.014965
0.026276
GENE1011
3_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr7
101,810,094
101,810,094
C
T
rs467288402
0.015079
0.010864
0.019557
GENE463
3_prime_UTR_variant
LOW
Low/Modifier Impact
false
chr15
15,325,986
15,325,986
G
A
rs714656846
0.022226
0.023812
0.015993
GENE110
synonymous_variant
MODERATE
Moderate Impact
false
chr7
74,126,087
74,126,087
A
C
chr7_74126087_A_C
0.024159
0.024146
0.027873
GENE674
splice_donor_variant
MODIFIER
Low/Modifier Impact
false
chr2
122,576,410
122,576,410
C
T
rs960472153
0.047125
0.028668
0.025952
GENE234
upstream_gene_variant
MODIFIER
Low/Modifier Impact
false
chr11
118,956,565
118,956,565
A
C
chr11_118956565_A_C
0.004821
0.005839
0.005792
GENE1587
start_lost
MODERATE
Moderate Impact
true
chr1
193,555,264
193,555,264
A
T
chr1_193555264_A_T
0.029702
0.042551
0.019536
GENE1370
downstream_gene_variant
MODIFIER
Low/Modifier Impact
false
chr2
226,982,645
226,982,645
G
T
rs144943450
0.150914
0.225069
0.095266
GENE1780
missense_variant
MODIFIER
Low/Modifier Impact
false
chr17
18,540,263
18,540,263
G
C
chr17_18540263_G_C
0.010691
0.010388
0.00788
GENE1436
frameshift_variant
MODERATE
Moderate Impact
false
chr17
59,430,476
59,430,476
C
T
rs805314949
0.001719
0.000926
0.000887
Unknown
true
chr5
58,846,590
58,846,590
A
G
rs450489863
0.031183
0.017387
0.020539
GENE44
splice_acceptor_variant
LOW
Low/Modifier Impact
false
chrX
16,913,506
16,913,506
G
C
chrX_16913506_G_C
0.034829
0.04306
0.042356
GENE1233
frameshift_variant
MODIFIER
Low/Modifier Impact
false
chr20
61,431,620
61,431,620
T
A
chr20_61431620_T_A
0.047985
0.060518
0.065345
Unknown
false
chr1
209,681,616
209,681,616
G
T
rs993441552
0.00964
0.008885
0.008735
Unknown
true
chr20
17,411,361
17,411,361
G
C
rs737421675
0.02978
0.030017
0.024431
GENE803
downstream_gene_variant
LOW
Low/Modifier Impact
false
chr6
76,688,032
76,688,032
G
A
rs406742214
0.038377
0.023816
0.039265
GENE526
intron_variant
LOW
Low/Modifier Impact
false
chr17
15,192,538
15,192,538
T
A
rs590903711
0.019489
0.010152
0.023656
GENE274
frameshift_variant
MODIFIER
Low/Modifier Impact
false
chr18
55,193,028
55,193,028
C
G
chr18_55193028_C_G
0.0958
0.077546
0.072556
GENE1553
downstream_gene_variant
LOW
Low/Modifier Impact
false
chr4
145,657,270
145,657,270
C
A
rs21740779
0.039221
0.046258
0.044169
GENE1677
5_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr6
54,544,186
54,544,186
G
A
chr6_54544186_G_A
0.043707
0.029598
0.024567
Unknown
false
chr14
80,767,520
80,767,520
C
T
rs250973665
0.001348
0.001063
0.001766
GENE1230
splice_acceptor_variant
MODERATE
Moderate Impact
true
chr1
28,698,620
28,698,620
A
G
rs740975227
0.013412
0.009902
0.016662
GENE830
3_prime_UTR_variant
MODERATE
Moderate Impact
false
chr11
127,094,046
127,094,046
C
A
chr11_127094046_C_A
0.025286
0.02443
0.012696
GENE1627
start_lost
LOW
Low/Modifier Impact
false
chrX
38,078,111
38,078,111
G
T
rs553575415
0.101622
0.053086
0.051906
Unknown
false
chr18
37,253,684
37,253,684
A
T
rs70658404
0.242219
0.173719
0.300703
GENE482
5_prime_UTR_variant
LOW
Low/Modifier Impact
false
chr2
180,209,880
180,209,880
A
T
rs499461536
0.43608
0.32447
0.633038
GENE1892
splice_donor_variant
MODIFIER
Low/Modifier Impact
false
chr10
26,959,704
26,959,704
C
T
rs610395812
0.117047
0.064217
0.092957
Unknown
false
chrX
137,900,359
137,900,359
C
A
rs23514423
0.007474
0.005142
0.004904
Unknown
true
chr10
117,450,379
117,450,379
T
C
rs872214678
0.048786
0.029805
0.03673
GENE10
missense_variant
LOW
Low/Modifier Impact
false
chr3
90,018,273
90,018,273
A
T
chr3_90018273_A_T
0.021642
0.022745
0.014936
GENE1692
3_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr1
34,788,810
34,788,810
A
G
rs551483330
0.306553
0.425431
0.253241
GENE1181
upstream_gene_variant
LOW
Low/Modifier Impact
false
chr6
159,627,831
159,627,831
T
C
chr6_159627831_T_C
0.032207
0.019911
0.030737
Unknown
false
chrY
40,700,110
40,700,110
A
C
chrY_40700110_A_C
0.315266
0.193807
0.463558
GENE429
stop_gained
LOW
Low/Modifier Impact
false
chr9
40,973,662
40,973,662
T
C
rs983238844
0.008935
0.01065
0.011532
GENE1571
splice_acceptor_variant
MODIFIER
Low/Modifier Impact
true
chr4
69,838,400
69,838,400
A
T
rs406810405
0.011486
0.008734
0.01577
Unknown
false
chr15
56,174,612
56,174,612
C
G
rs65004211
0.017165
0.01559
0.016503
Unknown
false
chr13
69,113,814
69,113,814
C
G
rs437295693
0.190555
0.108188
0.135221
GENE51
5_prime_UTR_variant
LOW
Low/Modifier Impact
false
chr3
162,952,129
162,952,129
C
G
rs937769588
0.023854
0.028673
0.017384
GENE407
5_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr4
54,035,691
54,035,691
T
A
rs449192742
0.498973
0.281611
0.392715
GENE1408
3_prime_UTR_variant
LOW
Low/Modifier Impact
false
chr1
248,147,543
248,147,543
A
G
chr1_248147543_A_G
0.034404
0.045443
0.039869
GENE219
upstream_gene_variant
MODIFIER
Low/Modifier Impact
false
chr6
168,028,556
168,028,556
G
T
rs569414650
0.037644
0.036401
0.022225
Unknown
false
chrX
89,678,560
89,678,560
T
A
chrX_89678560_T_A
0.030061
0.027049
0.016521
Unknown
false
chr17
15,609,616
15,609,616
T
G
rs948924763
0.049121
0.055443
0.073574
GENE1024
5_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr15
55,328,504
55,328,504
C
T
rs44967387
0.047088
0.059038
0.066653
GENE141
splice_acceptor_variant
MODIFIER
Low/Modifier Impact
false
chr1
143,688,675
143,688,675
C
A
rs217777287
0.337831
0.294991
0.4857
GENE706
splice_acceptor_variant
MODERATE
Moderate Impact
false
chr4
138,881,667
138,881,667
T
G
rs465831088
0.033958
0.035219
0.025455
GENE1696
stop_gained
MODERATE
Moderate Impact
false
chr1
203,449,965
203,449,965
T
G
rs586058261
0.038372
0.044666
0.040857
Unknown
false
chr11
117,031,481
117,031,481
G
T
rs389069541
0.018096
0.020962
0.020233
GENE170
splice_acceptor_variant
LOW
Low/Modifier Impact
false
chr16
7,206,726
7,206,726
A
C
chr16_7206726_A_C
0.021114
0.026147
0.018963
Unknown
false
chr15
53,539,489
53,539,489
G
T
chr15_53539489_G_T
0.045051
0.03688
0.040688
GENE105
frameshift_variant
MODIFIER
Low/Modifier Impact
false
chr16
17,680,547
17,680,547
C
A
chr16_17680547_C_A
0.014911
0.01734
0.013087
GENE1574
frameshift_variant
LOW
Low/Modifier Impact
false
chr14
90,245,246
90,245,246
A
G
chr14_90245246_A_G
0.032042
0.020328
0.043587
GENE167
stop_gained
HIGH
High Impact
false
chr12
82,577,629
82,577,629
T
A
rs80797095
0.04536
0.061348
0.034738
GENE462
frameshift_variant
MODIFIER
Low/Modifier Impact
false
chr1
208,745,505
208,745,505
T
A
rs261238542
0.037082
0.040704
0.02947
Unknown
false
chr7
1,516,294
1,516,294
A
G
rs149456348
0.194838
0.112241
0.118704
GENE1257
splice_acceptor_variant
LOW
Low/Modifier Impact
false
chr5
170,783,725
170,783,725
T
A
rs686768884
0.048701
0.043481
0.042112
Unknown
false
chr6
154,492,044
154,492,044
A
C
rs663003160
0.004268
0.003792
0.004461
Unknown
true
chr1
211,841,492
211,841,492
A
C
rs873256129
0.016374
0.020735
0.008339
GENE774
upstream_gene_variant
MODIFIER
Low/Modifier Impact
false