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
179,144,270
179,144,270
T
A
rs442082016
0.009722
0.008394
0.010102
GENE751
missense_variant
MODERATE
Moderate Impact
true
chr1
111,058,902
111,058,902
G
C
chr1_111058902_G_C
0.028968
0.017905
0.021791
GENE200
start_lost
MODIFIER
Low/Modifier Impact
false
chr13
101,332,320
101,332,320
G
T
rs649978434
0.017764
0.011469
0.014962
Unknown
false
chr21
19,176,643
19,176,643
T
G
rs60590125
0.015581
0.02031
0.013297
Unknown
false
chr1
98,969,319
98,969,319
T
A
rs150566707
0.012743
0.017124
0.007894
GENE1169
frameshift_variant
MODIFIER
Low/Modifier Impact
false
chr8
109,338,735
109,338,735
T
G
rs939206729
0.014232
0.020447
0.007288
GENE157
intron_variant
MODIFIER
Low/Modifier Impact
false
chr3
15,303,928
15,303,928
A
C
chr3_15303928_A_C
0.011083
0.007754
0.011521
Unknown
false
chr19
14,440,796
14,440,796
A
C
rs691406872
0.031544
0.029107
0.042443
GENE943
frameshift_variant
MODIFIER
Low/Modifier Impact
false
chr17
77,894,281
77,894,281
A
G
rs750776776
0.047473
0.044526
0.034146
Unknown
false
chrX
53,682,134
53,682,134
G
A
rs747235134
0.17912
0.157041
0.135976
GENE846
stop_lost
LOW
Low/Modifier Impact
false
chr16
87,809,915
87,809,915
T
G
rs470671313
0.009748
0.011878
0.007176
Unknown
true
chr2
192,483,935
192,483,935
T
C
rs509635097
0.020807
0.017813
0.021325
GENE1305
splice_acceptor_variant
MODIFIER
Low/Modifier Impact
false
chr7
76,305,944
76,305,944
A
G
rs215084185
0.00043
0.000322
0.0003
NF1
splice_acceptor_variant
HIGH
High Impact
true
chr16
18,510,129
18,510,129
G
C
rs1156348
0.006443
0.006105
0.003466
GENE1081
5_prime_UTR_variant
MODIFIER
Low/Modifier Impact
true
chr14
65,011,451
65,011,451
G
T
chr14_65011451_G_T
0.015182
0.011337
0.019721
GENE1484
missense_variant
MODIFIER
Low/Modifier Impact
false
chr9
48,091,797
48,091,797
T
A
rs37708830
0.003973
0.005791
0.002315
GENE657
missense_variant
HIGH
High Impact
true
chrX
116,092,550
116,092,550
A
G
rs98941005
0.038207
0.045861
0.053692
FMR1
start_lost
LOW
Low/Modifier Impact
false
chr4
60,135,144
60,135,144
A
C
rs580059987
0.02167
0.013572
0.010968
GENE1481
3_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr12
44,747,169
44,747,169
T
A
rs396246900
0.029539
0.015432
0.039617
Unknown
false
chr9
97,144,375
97,144,375
A
G
chr9_97144375_A_G
0.006241
0.006042
0.007689
Unknown
true
chr6
160,006,433
160,006,433
C
A
rs671790726
0.035761
0.035754
0.034455
GENE403
stop_lost
MODIFIER
Low/Modifier Impact
false
chr19
23,156,492
23,156,492
C
G
chr19_23156492_C_G
0.242267
0.329596
0.230005
GENE212
splice_acceptor_variant
MODIFIER
Low/Modifier Impact
false
chr11
28,571,368
28,571,368
T
G
rs211887578
0.041942
0.027696
0.023567
Unknown
false
chr4
156,764,825
156,764,825
C
G
chr4_156764825_C_G
0.049859
0.048533
0.060623
Unknown
false
chr10
10,705,670
10,705,670
T
C
rs452250257
0.018084
0.015005
0.01791
GENE248
5_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr11
38,909,714
38,909,714
T
C
rs893825266
0.025218
0.029696
0.021923
GENE1826
frameshift_variant
MODIFIER
Low/Modifier Impact
false
chr2
23,735,992
23,735,992
T
C
rs239072079
0.017061
0.013339
0.023565
GENE167
upstream_gene_variant
MODIFIER
Low/Modifier Impact
false
chr2
132,555,701
132,555,701
T
G
rs983416593
0.025476
0.034065
0.034511
GENE1558
splice_acceptor_variant
MODIFIER
Low/Modifier Impact
false
chr1
58,199,574
58,199,574
T
A
rs580414339
0.04366
0.060576
0.030414
GENE1295
stop_lost
MODERATE
Moderate Impact
false
chr7
12,261,531
12,261,531
G
A
rs338876590
0.004538
0.005984
0.003623
Unknown
true
chr22
49,208,388
49,208,388
C
T
chr22_49208388_C_T
0.02359
0.024911
0.025878
GENE1369
frameshift_variant
HIGH
High Impact
false
chr12
81,669,634
81,669,634
G
C
rs293517262
0.013761
0.018378
0.010735
BRCA2
3_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr22
9,154,988
9,154,988
C
A
rs493553494
0.020963
0.014673
0.024287
GENE1005
missense_variant
MODIFIER
Low/Modifier Impact
false
chr1
33,552,019
33,552,019
A
C
rs199939548
0.283887
0.199655
0.240852
GENE275
3_prime_UTR_variant
MODERATE
Moderate Impact
false
chr3
132,166,474
132,166,474
T
C
rs787111883
0.033127
0.041007
0.040334
Unknown
false
chr2
191,717,405
191,717,405
A
C
rs640359999
0.025899
0.03422
0.025917
GENE216
stop_gained
MODIFIER
Low/Modifier Impact
false
chr3
1,843,039
1,843,039
T
A
rs675394829
0.023035
0.016741
0.01992
GENE278
splice_acceptor_variant
LOW
Low/Modifier Impact
false
chr17
8,117,672
8,117,672
C
T
chr17_8117672_C_T
0.045417
0.061878
0.037658
GENE1422
frameshift_variant
MODIFIER
Low/Modifier Impact
false
chr14
74,178,701
74,178,701
C
A
rs550298467
0.00149
0.001563
0.001582
Unknown
true
chr8
63,253,182
63,253,182
C
T
rs447635003
0.013942
0.015586
0.012316
GENE1643
intron_variant
MODERATE
Moderate Impact
false
chr19
36,342,738
36,342,738
C
T
rs666864512
0.453776
0.487907
0.615223
Unknown
false
chr10
129,124,081
129,124,081
C
T
rs878083750
0.041285
0.049741
0.029415
GENE1425
synonymous_variant
LOW
Low/Modifier Impact
false
chr15
937,697
937,697
C
A
rs56190208
0.039909
0.049709
0.047906
GENE350
splice_donor_variant
MODIFIER
Low/Modifier Impact
false
chr15
100,460,697
100,460,697
G
A
rs824320952
0.043799
0.040276
0.03277
GENE705
start_lost
MODIFIER
Low/Modifier Impact
false
chr1
225,736,778
225,736,778
T
A
rs602051400
0.290377
0.160692
0.237235
Unknown
false
chrX
133,786,963
133,786,963
G
T
rs334695006
0.026253
0.022147
0.020043
GENE1327
synonymous_variant
LOW
Low/Modifier Impact
false
chr12
113,721,970
113,721,970
T
A
rs490545418
0.022594
0.020794
0.014316
GENE1954
splice_acceptor_variant
MODERATE
Moderate Impact
false
chr16
34,045,757
34,045,757
T
A
chr16_34045757_T_A
0.008353
0.010694
0.009134
GENE1462
splice_acceptor_variant
LOW
Low/Modifier Impact
true
chr4
32,892,973
32,892,973
A
G
rs826535008
0.04705
0.040706
0.066443
GENE263
stop_lost
LOW
Low/Modifier Impact
false
chr16
53,853,469
53,853,469
T
A
chr16_53853469_T_A
0.033791
0.017154
0.033473
GENE1260
5_prime_UTR_variant
LOW
Low/Modifier Impact
false
chr13
47,333,710
47,333,710
T
A
rs611887197
0.486228
0.402984
0.378652
GENE37
downstream_gene_variant
LOW
Low/Modifier Impact
false
chr1
124,755,513
124,755,513
T
A
chr1_124755513_T_A
0.030663
0.025969
0.019297
GENE1644
start_lost
LOW
Low/Modifier Impact
false
chrX
4,878,696
4,878,696
C
G
chrX_4878696_C_G
0.035396
0.040797
0.031964
GENE969
5_prime_UTR_variant
LOW
Low/Modifier Impact
false
chr7
152,033,242
152,033,242
G
T
rs165395468
0.025619
0.032075
0.03795
GENE917
intron_variant
LOW
Low/Modifier Impact
false
chrX
46,850,603
46,850,603
G
A
rs576437610
0.013018
0.012422
0.011453
Unknown
false
chr1
218,049,813
218,049,813
A
C
rs797162950
0.042991
0.053154
0.030735
GENE949
synonymous_variant
MODERATE
Moderate Impact
false
chr12
32,347,160
32,347,160
G
T
rs458466848
0.352937
0.288693
0.44451
GENE288
start_lost
MODIFIER
Low/Modifier Impact
false
chr8
69,586,358
69,586,358
C
G
rs518744035
0.213053
0.290331
0.184095
GENE477
frameshift_variant
MODIFIER
Low/Modifier Impact
false
chr1
223,029,565
223,029,565
A
G
rs807177685
0.026779
0.02042
0.016304
Unknown
false
chr20
44,013,969
44,013,969
T
C
rs463912729
0.014687
0.021185
0.021439
Unknown
false
chr7
128,559,082
128,559,082
G
T
rs638978926
0.007451
0.007013
0.005204
GENE1242
stop_gained
MODERATE
Moderate Impact
true
chr2
101,165,059
101,165,059
G
T
chr2_101165059_G_T
0.025293
0.026556
0.021206
GENE575
splice_acceptor_variant
MODIFIER
Low/Modifier Impact
false
chr13
91,456,037
91,456,037
G
C
rs372066550
0.001246
0.001585
0.001769
GENE183
stop_lost
MODIFIER
Low/Modifier Impact
true
chr12
8,846,478
8,846,478
C
T
rs84824417
0.0389
0.049675
0.055293
Unknown
false
chr21
40,502,640
40,502,640
G
C
chr21_40502640_G_C
0.421004
0.237623
0.404661
GENE690
synonymous_variant
MODIFIER
Low/Modifier Impact
false
chr7
144,913,846
144,913,846
C
G
rs661860636
0.029891
0.020873
0.025734
GENE798
3_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr9
127,357,146
127,357,146
C
G
chr9_127357146_C_G
0.014143
0.007293
0.016905
Unknown
false
chrY
55,448,387
55,448,387
C
T
rs100620387
0.016053
0.015962
0.013378
GENE2
intron_variant
LOW
Low/Modifier Impact
false
chr1
152,847,774
152,847,774
A
G
rs374615517
0.003102
0.003851
0.004553
GENE1470
splice_donor_variant
MODIFIER
Low/Modifier Impact
true
chr4
88,181,554
88,181,554
T
G
rs198991747
0.007977
0.004028
0.011813
GENE998
5_prime_UTR_variant
LOW
Low/Modifier Impact
true
chr8
123,933,905
123,933,905
G
T
rs37418410
0.00812
0.011489
0.01129
Unknown
true
chr18
7,752,640
7,752,640
A
C
rs139509825
0.044452
0.023232
0.032982
GENE664
intron_variant
MODIFIER
Low/Modifier Impact
false
chr19
46,974,845
46,974,845
G
C
rs575248316
0.006135
0.007002
0.004583
GENE353
3_prime_UTR_variant
LOW
Low/Modifier Impact
true
chr7
67,829,338
67,829,338
A
T
chr7_67829338_A_T
0.002909
0.001648
0.001787
Unknown
true
chr8
34,526,903
34,526,903
C
A
rs743422347
0.030466
0.028915
0.026183
GENE1757
start_lost
MODERATE
Moderate Impact
false
chr11
56,435,441
56,435,441
T
C
rs122558313
0.016655
0.022245
0.021655
GENE868
5_prime_UTR_variant
MODIFIER
Low/Modifier Impact
false
chr2
232,795,659
232,795,659
T
A
chr2_232795659_T_A
0.025249
0.037422
0.028054
Unknown
false
chrX
35,511,592
35,511,592
C
T
chrX_35511592_C_T
0.271996
0.38116
0.356829
GENE599
missense_variant
MODERATE
Moderate Impact
false
chr3
57,582,589
57,582,589
C
A
rs491842804
0.223516
0.230115
0.320937
GENE267
splice_acceptor_variant
MODERATE
Moderate Impact
false
chr15
34,452,193
34,452,193
G
T
rs875724434
0.429915
0.445717
0.281437
GENE1764
splice_donor_variant
LOW
Low/Modifier Impact
false
chr5
168,345,307
168,345,307
T
C
rs886049184
0.005221
0.005382
0.004346
Unknown
true
chr14
9,611,068
9,611,068
A
C
rs164533300
0.007
0.009085
0.010168
Unknown
true
chr5
33,534,868
33,534,868
G
T
rs44170460
0.001819
0.001595
0.002047
GENE107
intron_variant
LOW
Low/Modifier Impact
true
chr2
133,750,398
133,750,398
A
C
chr2_133750398_A_C
0.03004
0.036623
0.043642
GENE1125
downstream_gene_variant
LOW
Low/Modifier Impact
false
chr7
39,231,570
39,231,570
A
G
chr7_39231570_A_G
0.004395
0.00388
0.005313
GENE1020
missense_variant
MODIFIER
Low/Modifier Impact
true
chr7
140,663,833
140,663,833
T
A
rs185512671
0.017435
0.00947
0.019907
GENE839
3_prime_UTR_variant
LOW
Low/Modifier Impact
false
chr18
64,603,997
64,603,997
A
T
chr18_64603997_A_T
0.009413
0.005827
0.008062
Unknown
true
chr5
49,036,694
49,036,694
A
C
rs613087467
0.019254
0.018869
0.019382
GENE1093
frameshift_variant
MODIFIER
Low/Modifier Impact
false
chr22
36,019,885
36,019,885
T
G
chr22_36019885_T_G
0.010189
0.010632
0.0118
Unknown
false
chr5
28,363,223
28,363,223
G
A
rs471445455
0.035152
0.027404
0.031765
GENE893
downstream_gene_variant
MODIFIER
Low/Modifier Impact
false
chr8
102,448,081
102,448,081
G
A
rs455311490
0.004898
0.006917
0.003373
GENE644
start_lost
LOW
Low/Modifier Impact
true
chr2
62,975,028
62,975,028
T
A
rs197572276
0.004857
0.006828
0.004536
Unknown
true
chr10
121,239,680
121,239,680
A
C
rs173268228
0.029149
0.017003
0.042153
GENE1698
start_lost
MODERATE
Moderate Impact
false
chr10
2,557,707
2,557,707
T
A
rs877768564
0.027215
0.01853
0.035983
PRNP
frameshift_variant
MODERATE
Moderate Impact
false
chr4
7,839,077
7,839,077
T
A
chr4_7839077_T_A
0.011742
0.015213
0.009865
PARK2
frameshift_variant
LOW
Low/Modifier Impact
false
chr2
211,341,427
211,341,427
G
T
chr2_211341427_G_T
0.02818
0.031749
0.027147
GENE919
splice_acceptor_variant
LOW
Low/Modifier Impact
false
chrX
98,227,217
98,227,217
A
G
chrX_98227217_A_G
0.039786
0.031087
0.05188
GENE424
downstream_gene_variant
MODIFIER
Low/Modifier Impact
false
chr2
52,715,197
52,715,197
A
C
rs436938548
0.043756
0.034116
0.024243
GENE1625
intron_variant
MODIFIER
Low/Modifier Impact
false
chr6
145,264,077
145,264,077
G
A
chr6_145264077_G_A
0.022265
0.028627
0.024536
Unknown
false
chr6
32,063,476
32,063,476
C
G
rs744906210
0.022997
0.01978
0.020769
Unknown
false