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chrom
stringclasses
23 values
pos
int64
14.7k
249M
ref
stringclasses
4 values
alt
stringclasses
4 values
pip
float64
0
1
maf
float64
0.01
0.5
consequence
stringclasses
16 values
label
bool
2 classes
tss_dist
int64
0
5.43M
exon_dist
int64
0
5.43M
match_group
stringlengths
13
39
1
14,677
G
A
0.992227
0.055024
intron_variant
true
50,740
50,740
intron_variant_0
1
54,490
G
A
1
0.159938
intergenic_variant
true
10,927
10,927
intergenic_variant_0
1
63,671
G
A
0.998592
0.156388
non_coding_transcript_exon_variant
true
1,746
1,746
non_coding_transcript_exon_variant_0
1
63,697
T
C
0.977568
0.195652
non_coding_transcript_exon_variant
true
1,720
1,720
non_coding_transcript_exon_variant_1
1
108,826
G
C
1
0.040023
intron_variant
true
43,407
37,241
intron_variant_1
1
286,747
A
G
1
0.151295
intron_variant
true
164,929
163,991
intron_variant_2
1
788,511
G
C
0.006783
0.095685
intron_variant
false
101,857
101,857
intron_variant_79
1
826,965
A
G
0.999965
0.028132
non_coding_transcript_exon_variant
true
96,956
96,956
non_coding_transcript_exon_variant_2
1
849,670
G
A
0.001924
0.206767
non_coding_transcript_exon_variant
false
74,251
74,251
non_coding_transcript_exon_variant_56
1
851,741
T
A
0.004169
0.160069
non_coding_transcript_exon_variant
false
72,180
72,180
non_coding_transcript_exon_variant_73
1
852,019
G
T
0.007326
0.19373
splice_donor_5th_base_variant
false
71,902
71,902
splice_donor_5th_base_variant_0
1
917,584
T
G
0.996919
0.199664
non_coding_transcript_exon_variant
true
6,337
6,337
non_coding_transcript_exon_variant_3
1
936,972
G
C
0.993869
0.322299
intron_variant
true
2,301
1,076
intron_variant_3
1
963,620
C
T
0.975933
0.016227
non_coding_transcript_exon_variant
true
2,860
116
non_coding_transcript_exon_variant_4
1
975,014
C
T
0.999977
0.357634
3_prime_UTR_variant
true
1,502
0
3_prime_UTR_variant_0
1
978,953
C
G
0.92198
0.455994
missense_variant
true
3,138
0
missense_variant_0
1
995,982
G
A
0.999998
0.385654
non_coding_transcript_exon_variant
true
3,997
2,978
non_coding_transcript_exon_variant_5
1
998,750
G
C
0.92228
0.170116
upstream_gene_variant
true
1,229
210
upstream_gene_variant_0
1
999,842
C
A
0.913649
0.479245
missense_variant
true
137
0
missense_variant_1
1
1,000,731
C
T
0.914588
0.471427
upstream_gene_variant
true
405
405
upstream_gene_variant_1
1
1,013,855
G
A
0.006932
0.066667
intron_variant
false
358
127
intron_variant_235
1
1,015,336
A
T
0.948151
0.061077
downstream_gene_variant
true
1,839
796
downstream_gene_variant_0
1
1,021,472
C
T
0.006045
0.459391
intron_variant
false
1,349
727
intron_variant_98
1
1,091,327
C
A
0.981916
0.432272
synonymous_variant
true
845
0
synonymous_variant_0
1
1,103,805
C
T
0.998775
0.063859
intron_variant
true
2,320
2,149
intron_variant_4
1
1,111,648
A
G
0.938128
0.056478
intron_variant
true
4,431
3,372
intron_variant_5
1
1,171,767
G
A
0.977755
0.015464
intergenic_variant
true
2,111
2,111
intergenic_variant_1
1
1,173,872
A
G
0.999998
0.318565
non_coding_transcript_exon_variant
true
6
6
non_coding_transcript_exon_variant_6
1
1,217,221
A
G
0.999374
0.055225
3_prime_UTR_variant
true
3,068
0
3_prime_UTR_variant_1
1
1,217,251
C
A
1
0.117091
3_prime_UTR_variant
true
3,098
0
3_prime_UTR_variant_2
1
1,220,424
T
C
0.986704
0.115646
non_coding_transcript_exon_variant
true
6,271
1,419
non_coding_transcript_exon_variant_7
1
1,281,631
A
C
0.009698
0.113725
intron_variant
false
292
21
intron_variant_411
1
1,285,896
C
T
0.997892
0.010327
intron_variant
true
1,211
28
intron_variant_6
1
1,321,228
G
A
0.999952
0.128333
intron_variant
true
3,400
132
intron_variant_7
1
1,321,991
C
G
0.00831
0.018182
splice_polypyrimidine_tract_variant
false
2,637
7
splice_polypyrimidine_tract_variant_1
1
1,327,982
G
A
0.004407
0.117225
3_prime_UTR_variant
false
2,741
0
3_prime_UTR_variant_2
1
1,374,801
A
G
0.939584
0.074534
splice_polypyrimidine_tract_variant
true
354
0
splice_polypyrimidine_tract_variant_0
1
1,407,014
G
A
0.928647
0.03597
synonymous_variant
true
16
0
synonymous_variant_1
1
1,407,232
G
C
1
0.206178
5_prime_UTR_variant
true
56
0
5_prime_UTR_variant_0
1
1,419,214
A
G
1
0.129061
synonymous_variant
true
1,875
0
synonymous_variant_2
1
1,440,430
C
G
0.999921
0.262734
3_prime_UTR_variant
true
4,695
0
3_prime_UTR_variant_3
1
1,445,187
T
G
0.977652
0.255888
intergenic_variant
true
4,500
2,305
intergenic_variant_2
1
1,452,888
C
A
0.007438
0.252294
intron_variant
false
2,974
454
intron_variant_115
1
1,456,829
G
C
0.998681
0.197115
intron_variant
true
6,915
298
intron_variant_8
1
1,490,718
G
A
0.985992
0.01916
intron_variant
true
18,934
47
intron_variant_9
1
1,497,903
C
T
0.997855
0.019315
downstream_gene_variant
true
14,257
55
downstream_gene_variant_1
1
1,500,069
T
C
0.007243
0.013015
intergenic_variant
false
12,091
2,221
intergenic_variant_91
1
1,500,526
T
C
0.9857
0.014193
intergenic_variant
true
11,634
2,678
intergenic_variant_3
1
1,506,823
C
T
0.948958
0.018933
intron_variant
true
5,337
5,337
intron_variant_10
1
1,517,976
T
C
0.999686
0.068383
intron_variant
true
5,446
201
intron_variant_11
1
1,525,927
C
T
0.99046
0.014439
intron_variant
true
1,972
532
intron_variant_12
1
1,531,013
G
A
0.986648
0.014475
intron_variant
true
7,058
1,682
intron_variant_13
1
1,534,166
G
A
0.999945
0.310606
3_prime_UTR_variant
true
6,182
0
3_prime_UTR_variant_4
1
1,538,924
C
A
0.00582
0.32358
intron_variant
false
1,424
130
intron_variant_276
1
1,658,830
C
G
0.999653
0.232621
intron_variant
true
172
82
intron_variant_14
1
1,659,060
G
A
0.999402
0.271394
upstream_gene_variant
true
48
48
upstream_gene_variant_2
1
1,665,061
C
T
0.999999
0.21677
3_prime_UTR_variant
true
6,049
0
3_prime_UTR_variant_5
1
1,665,581
C
G
0.998828
0.237304
3_prime_UTR_variant
true
6,569
0
3_prime_UTR_variant_6
1
1,674,848
G
C
0.970624
0.030805
intron_variant
true
15,836
613
intron_variant_15
1
1,680,158
G
A
0.98803
0.026369
intron_variant
true
12,564
3,312
intron_variant_16
1
1,688,409
C
G
0.921037
0.410778
intron_variant
true
4,313
2,565
intron_variant_17
1
1,689,221
G
A
1
0.034921
intron_variant
true
3,501
1,753
intron_variant_18
1
1,730,405
G
C
0.951414
0.404046
non_coding_transcript_exon_variant
true
6,048
6,048
non_coding_transcript_exon_variant_8
1
1,733,506
G
A
1
0.011795
intron_variant
true
9,149
9,149
intron_variant_19
1
1,742,468
G
C
0.991183
0.467058
intron_variant
true
14,798
8,762
intron_variant_20
1
1,742,672
C
T
0.924624
0.390924
intron_variant
true
14,594
8,558
intron_variant_21
1
1,743,238
G
C
0.996256
0.38812
intron_variant
true
14,028
7,992
intron_variant_22
1
1,744,499
C
T
1
0.437462
non_coding_transcript_exon_variant
true
12,767
6,731
non_coding_transcript_exon_variant_9
1
1,845,552
G
T
1
0.012972
intron_variant
true
13,267
5,870
intron_variant_23
1
1,851,793
C
T
0.914395
0.032179
intron_variant
true
19,508
12,111
intron_variant_24
1
1,892,085
G
C
0.999861
0.169859
5_prime_UTR_variant
true
968
968
5_prime_UTR_variant_1
1
1,913,643
T
C
0.008263
0.432067
intergenic_variant
false
1,463
1,463
intergenic_variant_89
1
1,921,045
A
G
0.938207
0.352239
downstream_gene_variant
true
1,766
904
downstream_gene_variant_2
1
1,959,595
C
T
0.955724
0.065152
intron_variant
true
31,332
367
intron_variant_25
1
2,019,112
G
A
1
0.188887
upstream_gene_variant
true
215
215
upstream_gene_variant_3
1
2,022,137
G
A
0.991452
0.396907
intron_variant
true
2,653
2,646
intron_variant_26
1
2,061,538
G
T
1
0.201155
intron_variant
true
10,730
1,947
intron_variant_27
1
2,189,679
C
T
0.999999
0.369459
3_prime_UTR_variant
true
5,067
0
3_prime_UTR_variant_7
1
2,217,665
C
T
0.956601
0.015686
intron_variant
true
10,652
10,652
intron_variant_28
1
2,300,156
A
C
0.974979
0.063665
intron_variant
true
71,837
2,820
intron_variant_29
1
2,320,766
C
T
0.90081
0.14538
non_coding_transcript_exon_variant
true
67,569
485
non_coding_transcript_exon_variant_10
1
2,340,787
C
T
0.940313
0.281142
intron_variant
true
47,548
3,937
intron_variant_30
1
2,412,603
G
C
0.977347
0.042636
intron_variant
true
39
39
intron_variant_31
1
2,416,027
C
T
0.904936
0.216366
intergenic_variant
true
2,230
2,230
intergenic_variant_4
1
2,493,455
T
C
0.999864
0.31792
non_coding_transcript_exon_variant
true
13,567
1,399
non_coding_transcript_exon_variant_11
1
2,496,273
C
T
0.003858
0.392625
intron_variant
false
16,385
332
intron_variant_178
1
2,522,373
G
A
0.009239
0.27561
intron_variant
false
4,221
573
intron_variant_326
1
2,684,707
G
T
0.008349
0.426247
intron_variant
false
51,691
39,144
intron_variant_458
1
2,747,586
G
A
0.004344
0.0141
intron_variant
false
42,077
36,021
intron_variant_1
1
2,771,799
C
G
0.005217
0.012777
intron_variant
false
17,864
11,808
intron_variant_24
1
2,781,735
C
T
0.00665
0.034654
intron_variant
false
7,928
1,872
intron_variant_415
1
2,784,424
A
G
0.00665
0.034654
non_coding_transcript_exon_variant
false
5,239
649
non_coding_transcript_exon_variant_92
1
2,787,547
T
C
0.00665
0.034654
synonymous_variant
false
2,116
0
synonymous_variant_1
1
3,373,043
T
C
0.991129
0.346516
non_coding_transcript_exon_variant
true
23,446
12,104
non_coding_transcript_exon_variant_12
1
3,425,232
C
T
0.981891
0.083333
non_coding_transcript_exon_variant
true
28,741
347
non_coding_transcript_exon_variant_13
1
3,531,796
G
A
0.907067
0.45082
intron_variant
true
348
348
intron_variant_32
1
3,774,964
A
G
1
0.287313
intron_variant
true
2,139
333
intron_variant_33
1
3,786,773
G
C
0.999998
0.381181
intron_variant
true
9,723
74
intron_variant_34
1
3,816,902
C
T
0.007031
0.413437
intron_variant
false
20,404
532
intron_variant_328
1
3,874,969
G
A
0.989985
0.433694
intron_variant
true
17,493
2,397
intron_variant_35
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