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
chrX
107,552,337
107,552,337
T
C
chrX_107552337_T_C
0.016355
0.017688
0.024332
Unknown
false
chr2
200,511,139
200,511,139
C
T
rs588091478
0.021662
0.012234
0.022693
GENE1527
stop_gained
LOW
Low/Modifier Impact
false
chr10
126,170,179
126,170,179
T
G
chr10_126170179_T_G
0.001211
0.000878
0.001611
Unknown
true
chr6
159,083,320
159,083,320
A
G
rs850439340
0.018207
0.017204
0.017356
GENE248
missense_variant
LOW
Low/Modifier Impact
false
chr9
21,901,188
21,901,188
G
C
rs526393471
0.027339
0.01836
0.03863
GENE885
frameshift_variant
LOW
Low/Modifier Impact
false
chr14
61,539,428
61,539,428
T
C
rs92849034
0.041587
0.061687
0.039917
Unknown
false
chr1
127,128,299
127,128,299
T
C
rs220900538
0.004223
0.003352
0.002422
Unknown
true
chr7
35,114,963
35,114,963
C
G
rs103317065
0.045685
0.06243
0.034353
Unknown
false
chr2
29,260,843
29,260,843
C
T
rs730780949
0.028116
0.014617
0.032969
GENE1164
missense_variant
MODERATE
Moderate Impact
false
chr8
61,606,632
61,606,632
T
C
chr8_61606632_T_C
0.003909
0.003565
0.003059
GENE963
upstream_gene_variant
MODIFIER
Low/Modifier Impact
true
chr18
53,480,670
53,480,670
G
A
rs293851750
0.025687
0.014858
0.03849
GENE1072
stop_gained
MODIFIER
Low/Modifier Impact
false
chr6
19,414,931
19,414,931
T
A
rs368559359
0.020973
0.011463
0.023097
Unknown
false
chrX
56,553,264
56,553,264
T
C
rs942270698
0.153223
0.196018
0.204217
GENE784
downstream_gene_variant
MODIFIER
Low/Modifier Impact
false
chr9
20,800,279
20,800,279
T
G
rs518517513
0.046584
0.045316
0.049572
GENE89
3_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr19
4,316,987
4,316,987
C
G
rs619946460
0.023633
0.018575
0.023268
GENE143
missense_variant
MODIFIER
Low/Modifier Impact
false
chr12
7,665,885
7,665,885
C
T
chr12_7665885_C_T
0.02581
0.024742
0.035926
GENE72
splice_donor_variant
MODIFIER
Low/Modifier Impact
false
chr11
80,121,515
80,121,515
T
C
rs408063364
0.004701
0.003453
0.002563
GENE942
downstream_gene_variant
MODIFIER
Low/Modifier Impact
true
chr5
144,924,450
144,924,450
C
T
rs317120426
0.041338
0.035971
0.024878
GENE1226
3_prime_UTR_variant
LOW
Low/Modifier Impact
false
chr9
95,521,490
95,521,490
A
T
rs375885118
0.430369
0.499944
0.589302
Unknown
false
chr12
67,129,874
67,129,874
T
A
rs529028170
0.174135
0.104546
0.194894
GENE961
stop_lost
MODIFIER
Low/Modifier Impact
false
chr3
21,588,585
21,588,585
A
C
chr3_21588585_A_C
0.012976
0.007869
0.012415
Unknown
false
chr20
32,716,671
32,716,671
T
C
rs50961377
0.015532
0.015882
0.02097
FMR1
splice_donor_variant
LOW
Low/Modifier Impact
false
chr2
236,307,650
236,307,650
A
C
rs766614298
0.040385
0.023663
0.047311
PARK2
splice_acceptor_variant
LOW
Low/Modifier Impact
false
chrY
17,328,574
17,328,574
G
A
rs190420603
0.016543
0.015686
0.02268
Unknown
false
chr6
97,798,097
97,798,097
T
C
rs800972821
0.040151
0.027795
0.05152
Unknown
false
chr8
18,834,276
18,834,276
C
G
chr8_18834276_C_G
0.220981
0.165271
0.263255
Unknown
false
chr2
38,568,637
38,568,637
T
A
chr2_38568637_T_A
0.017075
0.023903
0.017974
GENE1834
missense_variant
HIGH
High Impact
false
chr15
4,035,178
4,035,178
C
T
rs220504208
0.003071
0.001618
0.002462
Unknown
true
chr1
77,762,558
77,762,558
T
C
chr1_77762558_T_C
0.143613
0.208317
0.129097
GENE1504
upstream_gene_variant
HIGH
High Impact
false
chr5
50,541,519
50,541,519
T
G
chr5_50541519_T_G
0.040066
0.022963
0.042728
GENE726
missense_variant
MODIFIER
Low/Modifier Impact
false
chr14
45,449,644
45,449,644
T
C
rs734020977
0.019133
0.012642
0.011319
Unknown
false
chr4
108,488,360
108,488,360
G
C
rs636513210
0.297744
0.427793
0.162343
GENE954
intron_variant
MODERATE
Moderate Impact
false
chr14
49,700,617
49,700,617
A
C
chr14_49700617_A_C
0.007446
0.005404
0.008996
GENE1781
splice_donor_variant
MODERATE
Moderate Impact
true
chr4
110,992,858
110,992,858
C
T
rs748600020
0.022329
0.020195
0.029139
GENE446
frameshift_variant
MODERATE
Moderate Impact
false
chrX
135,854,896
135,854,896
T
C
rs588594666
0.155494
0.2058
0.209996
GENE1650
splice_acceptor_variant
LOW
Low/Modifier Impact
false
chr18
34,474,714
34,474,714
C
G
rs450422640
0.015477
0.011833
0.011914
Unknown
false
chr3
35,234,788
35,234,788
T
C
rs49950196
0.028355
0.02848
0.040951
GENE212
synonymous_variant
LOW
Low/Modifier Impact
false
chr4
175,155,018
175,155,018
A
G
rs833458509
0.021455
0.026458
0.023049
GENE1641
5_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr10
127,556,905
127,556,905
T
G
rs336200854
0.040625
0.043742
0.055737
GENE1592
start_lost
LOW
Low/Modifier Impact
false
chr2
74,048,225
74,048,225
G
C
chr2_74048225_G_C
0.005717
0.006723
0.002925
GENE1421
downstream_gene_variant
LOW
Low/Modifier Impact
true
chr2
55,733,762
55,733,762
C
T
chr2_55733762_C_T
0.035884
0.020384
0.030902
GENE1814
synonymous_variant
HIGH
High Impact
false
chr17
69,455,795
69,455,795
T
G
rs457722826
0.259096
0.220878
0.324969
Unknown
false
chr1
5,068,066
5,068,066
G
C
rs943608301
0.034162
0.036433
0.037684
GENE1051
downstream_gene_variant
MODIFIER
Low/Modifier Impact
false
chr5
45,006,694
45,006,694
G
A
rs485140398
0.029518
0.033982
0.015224
GENE1732
stop_lost
MODERATE
Moderate Impact
false
chr5
38,742,255
38,742,255
A
T
rs712951027
0.031455
0.04224
0.031717
GENE1136
missense_variant
MODIFIER
Low/Modifier Impact
false
chrY
6,011,286
6,011,286
T
G
rs582889892
0.021866
0.014337
0.017007
GENE345
intron_variant
LOW
Low/Modifier Impact
false
chr3
67,660,842
67,660,842
G
A
rs571874112
0.154288
0.156156
0.136361
GENE1283
3_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chrX
121,505,406
121,505,406
G
A
chrX_121505406_G_A
0.010897
0.011
0.01406
GENE220
synonymous_variant
MODIFIER
Low/Modifier Impact
false
chr7
18,816,059
18,816,059
G
A
chr7_18816059_G_A
0.032653
0.02141
0.028893
GENE851
frameshift_variant
MODIFIER
Low/Modifier Impact
false
chr3
196,565,672
196,565,672
C
T
chr3_196565672_C_T
0.047253
0.039071
0.057646
GENE1954
stop_gained
MODIFIER
Low/Modifier Impact
false
chr11
32,503,972
32,503,972
G
T
chr11_32503972_G_T
0.022093
0.022625
0.02123
GENE1878
intron_variant
MODIFIER
Low/Modifier Impact
false
chr3
189,245,696
189,245,696
G
T
rs767180148
0.029619
0.01921
0.020714
GENE1450
start_lost
MODIFIER
Low/Modifier Impact
false
chr4
167,548,183
167,548,183
C
A
chr4_167548183_C_A
0.009221
0.00516
0.012693
GENE153
stop_gained
MODIFIER
Low/Modifier Impact
true
chr6
41,553,284
41,553,284
A
C
rs846729493
0.157683
0.13202
0.229902
GENE1516
5_prime_UTR_variant
LOW
Low/Modifier Impact
false
chr8
99,395,820
99,395,820
T
A
chr8_99395820_T_A
0.03335
0.024232
0.034884
GENE1552
splice_acceptor_variant
LOW
Low/Modifier Impact
false
chr7
70,407,424
70,407,424
A
G
rs256977783
0.015718
0.011762
0.018227
Unknown
false
chr15
82,572,414
82,572,414
C
T
chr15_82572414_C_T
0.005864
0.007291
0.00855
GENE1601
upstream_gene_variant
MODIFIER
Low/Modifier Impact
true
chr7
4,418,045
4,418,045
G
T
rs795995097
0.044161
0.066196
0.050399
Unknown
false
chr11
36,883,829
36,883,829
G
A
chr11_36883829_G_A
0.000948
0.000995
0.000703
Unknown
true
chr2
42,393,140
42,393,140
C
A
rs642792443
0.041169
0.060223
0.056645
Unknown
false
chr2
213,197,695
213,197,695
C
T
chr2_213197695_C_T
0.045127
0.044977
0.049967
GENE1580
stop_gained
HIGH
High Impact
false
chr10
105,263,156
105,263,156
C
T
rs277003845
0.001486
0.000812
0.000805
Unknown
true
chr7
150,134,224
150,134,224
C
T
rs137356805
0.017693
0.026341
0.025134
GENE1389
missense_variant
MODIFIER
Low/Modifier Impact
false
chr12
51,091,562
51,091,562
C
A
rs92283959
0.002792
0.002307
0.004058
Unknown
true
chr2
38,830,720
38,830,720
T
A
rs926233607
0.024038
0.013489
0.019606
GENE455
stop_lost
MODIFIER
Low/Modifier Impact
false
chr16
42,347,050
42,347,050
T
C
rs515689829
0.034997
0.049175
0.028776
Unknown
false
chr20
40,220,084
40,220,084
A
T
rs826374212
0.002292
0.002724
0.001321
GENE1509
intron_variant
MODIFIER
Low/Modifier Impact
true
chr15
89,785,278
89,785,278
C
G
rs389093439
0.415343
0.599744
0.266986
GENE709
frameshift_variant
MODIFIER
Low/Modifier Impact
false
chr8
82,965,749
82,965,749
A
T
rs175337239
0.043667
0.026215
0.036942
GENE1575
splice_donor_variant
MODIFIER
Low/Modifier Impact
false
chr16
4,258,253
4,258,253
G
C
rs604805362
0.039874
0.029395
0.044396
GENE617
synonymous_variant
LOW
Low/Modifier Impact
false
chr11
44,395,287
44,395,287
T
G
chr11_44395287_T_G
0.021666
0.015536
0.028241
Unknown
false
chr6
162,329,865
162,329,865
C
T
rs762096811
0.026535
0.034496
0.032094
Unknown
false
chr10
34,718,265
34,718,265
G
A
rs608765518
0.017123
0.017698
0.018863
Unknown
false
chr13
53,489,105
53,489,105
G
T
chr13_53489105_G_T
0.043917
0.037175
0.049498
GENE1488
upstream_gene_variant
LOW
Low/Modifier Impact
false
chr10
104,147,850
104,147,850
T
G
rs215282839
0.034926
0.04569
0.03705
Unknown
false
chr19
3,621,117
3,621,117
A
G
chr19_3621117_A_G
0.047349
0.066366
0.046084
GENE192
splice_acceptor_variant
MODIFIER
Low/Modifier Impact
false
chr1
152,325,075
152,325,075
G
T
rs794027568
0.042522
0.061095
0.058713
GENE1318
frameshift_variant
LOW
Low/Modifier Impact
false
chr1
13,786,083
13,786,083
T
C
rs889622284
0.007537
0.01071
0.006958
GENE41
5_prime_UTR_variant
MODIFIER
Low/Modifier Impact
true
chr18
14,156,443
14,156,443
T
A
chr18_14156443_T_A
0.072506
0.100575
0.037162
GENE1105
splice_acceptor_variant
MODIFIER
Low/Modifier Impact
false
chrY
5,429,032
5,429,032
T
G
rs542480325
0.008625
0.009851
0.011086
Unknown
true
chr3
125,842,031
125,842,031
T
A
chr3_125842031_T_A
0.004327
0.00506
0.006132
Unknown
true
chr8
15,326,277
15,326,277
A
C
rs51810228
0.043523
0.025373
0.022411
Unknown
false
chr19
39,478,113
39,478,113
T
G
rs458656409
0.00517
0.006764
0.004531
Unknown
true
chr6
153,460,934
153,460,934
A
C
rs882407214
0.03306
0.033349
0.034895
GENE818
upstream_gene_variant
HIGH
High Impact
false
chrX
94,410,463
94,410,463
C
A
rs67551176
0.038629
0.029339
0.035494
Unknown
false
chr2
6,767,576
6,767,576
T
C
rs224783623
0.006864
0.006513
0.009601
GENE683
stop_gained
LOW
Low/Modifier Impact
true
chr1
185,779,872
185,779,872
T
A
rs197431449
0.005061
0.002727
0.0031
Unknown
true
chr10
19,822,034
19,822,034
A
C
chr10_19822034_A_C
0.004055
0.00384
0.002863
GENE73
stop_gained
MODIFIER
Low/Modifier Impact
true
chr21
27,757,964
27,757,964
G
T
chr21_27757964_G_T
0.033258
0.019563
0.025826
GENE695
stop_gained
MODIFIER
Low/Modifier Impact
false
chr22
41,048,584
41,048,584
C
T
chr22_41048584_C_T
0.023215
0.019416
0.023357
GENE22
synonymous_variant
MODIFIER
Low/Modifier Impact
false
chr2
34,633,062
34,633,062
T
G
rs615041022
0.016538
0.012125
0.011345
GENE1299
3_prime_UTR_variant
LOW
Low/Modifier Impact
false
chr7
46,723,095
46,723,095
G
C
rs666145986
0.018543
0.027236
0.023594
GENE1215
3_prime_UTR_variant
HIGH
High Impact
false
chr3
73,869,050
73,869,050
T
C
chr3_73869050_T_C
0.005731
0.003382
0.007333
Unknown
true
chr7
134,782,679
134,782,679
A
C
chr7_134782679_A_C
0.033421
0.048212
0.036808
Unknown
false
chr4
102,556,539
102,556,539
G
A
rs725114220
0.005443
0.003527
0.002917
GENE1180
splice_donor_variant
LOW
Low/Modifier Impact
true
chr11
46,336,672
46,336,672
C
G
rs794242549
0.019454
0.014912
0.013627
Unknown
false
chr13
98,648,070
98,648,070
G
A
chr13_98648070_G_A
0.040111
0.03863
0.038944
Unknown
false
chrY
10,798,210
10,798,210
T
C
rs536379479
0.006331
0.003509
0.00907
Unknown
true
chr12
40,681,391
40,681,391
A
C
chr12_40681391_A_C
0.046787
0.063268
0.063361
GENE220
start_lost
MODIFIER
Low/Modifier Impact
false
chr16
52,455,831
52,455,831
A
C
rs677646125
0.046292
0.052603
0.066353
GENE1693
synonymous_variant
MODIFIER
Low/Modifier Impact
false