chrom
stringclasses
12 values
pos
int64
36.1k
249M
ref
stringclasses
4 values
alt
stringclasses
4 values
label
bool
2 classes
subset
stringclasses
8 values
match_group
int64
0
2.16k
rsid
stringlengths
3
15
pip
float64
0
1
traits
stringclasses
279 values
MAF
float64
0
0.5
ld_score
float64
1.01
3.79k
consequence
stringclasses
13 values
consequence_cre
stringclasses
29 values
exon_closest_pc_gene_id
stringlengths
15
15
distance_exon_pc
int64
0
1.68M
exon_closest_nc_gene_id
stringlengths
15
15
distance_exon_nc
int64
0
507k
distance_exon
int64
0
507k
exon_closest_gene_id
stringlengths
15
15
consequence_final
stringclasses
28 values
tss_closest_pc_gene_id
stringlengths
15
15
distance_tss_pc
int64
0
1.69M
tss_closest_nc_gene_id
stringlengths
15
15
distance_tss_nc
int64
0
531k
distance_tss
int64
0
531k
tss_closest_gene_id
stringlengths
15
15
consequence_group
stringclasses
8 values
distance_tss_pc_bin
stringclasses
4 values
distance_exon_pc_bin
stringclasses
7 values
11
45,224,227
G
T
false
missense_variant
296
rs35090414
0.000082
0.084043
93.099
missense_variant
missense_variant
ENSG00000019485
0
ENSG00000019485
1,767
0
ENSG00000019485
missense_variant
ENSG00000019505
61,696
ENSG00000254664
11,064
11,064
ENSG00000254664
missense_variant
NA
NA
11
45,241,789
C
T
false
3_prime_UTR_variant
394
rs3180446
0.004932
0.34478
125.54
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000019505
0
ENSG00000019505
1,911
0
ENSG00000019505
3_prime_UTR_variant
ENSG00000019505
44,134
ENSG00000254664
6,496
6,496
ENSG00000254664
3_prime_UTR_variant
NA
NA
11
45,306,166
T
A
false
distal
319
rs117322817
0.000038
0.018421
35.994
intergenic_variant
dELS
ENSG00000019505
19,824
ENSG00000019505
20,098
19,824
ENSG00000019505
dELS
ENSG00000019505
19,824
ENSG00000019505
20,098
19,824
ENSG00000019505
distal
NA
NA
11
45,855,978
A
G
false
splicing
405
rs2292913
0.002639
0.05549
127.45
splice_region_variant
splice_region_variant
ENSG00000121671
3
ENSG00000121671
3
3
ENSG00000121671
splice_region_variant
ENSG00000121671
8,502
ENSG00000121671
2,296
2,296
ENSG00000121671
splicing
NA
splicing:b0
11
45,926,811
A
G
false
missense_variant
300
rs140734305
0.000148
0.000564
6.7073
missense_variant
missense_variant
ENSG00000165905
0
ENSG00000165905
0
0
ENSG00000165905
missense_variant
ENSG00000165905
359
ENSG00000165905
447
359
ENSG00000165905
missense_variant
NA
NA
11
46,367,331
C
A
false
missense_variant
317
rs147007748
0.000035
0.007974
22.637
missense_variant
missense_variant
ENSG00000149091
0
ENSG00000149091
0
0
ENSG00000149091
missense_variant
ENSG00000149091
320
ENSG00000149091
15
15
ENSG00000149091
missense_variant
NA
NA
11
46,434,894
G
A
false
synonymous_variant
286
rs61999319
0.000111
0.023965
45.877
synonymous_variant
synonymous_variant
ENSG00000110497
0
ENSG00000110497
0
0
ENSG00000110497
synonymous_variant
ENSG00000110497
16,898
ENSG00000244313
5,743
5,743
ENSG00000244313
synonymous_variant
NA
NA
11
46,473,752
A
G
false
distal
364
rs11038900
0.004129
0.17174
378.53
intron_variant
dELS_flank
ENSG00000110497
19,855
ENSG00000110497
17,245
17,245
ENSG00000110497
dELS_flank
ENSG00000110497
55,756
ENSG00000110497
20,140
20,140
ENSG00000110497
distal
NA
NA
11
46,894,628
T
G
false
missense_variant
311
rs72897663
0.00031
0.042569
42.465
missense_variant
missense_variant
ENSG00000134569
0
ENSG00000134569
4,940
0
ENSG00000134569
missense_variant
ENSG00000134569
23,921
ENSG00000134569
4,940
4,940
ENSG00000134569
missense_variant
NA
NA
11
47,166,860
C
T
false
missense_variant
289
rs3740691
0.000481
0.32272
222.82
missense_variant
missense_variant
ENSG00000149182
0
ENSG00000149182
0
0
ENSG00000149182
missense_variant
ENSG00000149182
4,696
ENSG00000149182
1,642
1,642
ENSG00000149182
missense_variant
NA
NA
11
47,216,129
T
C
false
non_coding_transcript_exon_variant
353
rs2291120
0.001242
0.13475
80.572
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000134574
206
ENSG00000134574
0
0
ENSG00000134574
non_coding_transcript_exon_variant
ENSG00000134574
991
ENSG00000134574
783
783
ENSG00000134574
non_coding_transcript_exon_variant
NA
NA
11
47,268,596
G
A
true
missense_variant
300
rs61731956
0.999995
ApoA,HDLC
0.000517
12.498
missense_variant
missense_variant
ENSG00000025434
0
ENSG00000025434
0
0
ENSG00000025434
missense_variant
ENSG00000110514
564
ENSG00000025434
454
454
ENSG00000025434
missense_variant
NA
NA
11
47,358,739
A
G
false
missense_variant
316
rs182990413
0.000448
0.013675
22.74
missense_variant
missense_variant
ENSG00000066336
0
ENSG00000134571
6,036
0
ENSG00000066336
missense_variant
ENSG00000134571
6,036
ENSG00000134571
6,036
6,036
ENSG00000134571
missense_variant
NA
NA
11
47,359,042
G
A
true
distal
358
rs3740689
0.98703
Mono
0.41436
319.21
intron_variant
dELS_flank
ENSG00000066336
35
ENSG00000134571
6,339
35
ENSG00000066336
dELS_flank
ENSG00000134571
6,339
ENSG00000134571
6,339
6,339
ENSG00000134571
distal
NA
NA
11
47,425,651
T
C
false
non_coding_transcript_exon_variant
353
rs17790804
0.00672
0.13282
502.9
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000165916
215
ENSG00000165916
0
0
ENSG00000165916
non_coding_transcript_exon_variant
ENSG00000165916
564
ENSG00000165916
546
546
ENSG00000165916
non_coding_transcript_exon_variant
NA
NA
11
47,654,618
A
G
true
distal
370
rs7107356
0.98307
PP
0.49378
544.92
intergenic_variant
intergenic_variant
ENSG00000165923
4,972
ENSG00000165923
4,972
4,972
ENSG00000165923
intergenic_variant
ENSG00000109919
12,010
ENSG00000109919
12,022
12,010
ENSG00000109919
distal
NA
NA
11
47,679,976
C
A
false
missense_variant
314
rs12286721
0.003357
0.44943
513.97
missense_variant
missense_variant
ENSG00000165923
0
ENSG00000165923
0
0
ENSG00000165923
missense_variant
ENSG00000165923
34,450
ENSG00000165923
10,393
10,393
ENSG00000165923
missense_variant
NA
NA
11
47,835,701
T
C
false
missense_variant
314
rs3816605
0.004258
0.45471
522.57
missense_variant
missense_variant
ENSG00000030066
0
ENSG00000030066
0
0
ENSG00000030066
missense_variant
ENSG00000030066
12,611
ENSG00000271557
5,622
5,622
ENSG00000271557
missense_variant
NA
NA
11
47,996,843
G
A
false
distal
338
rs74679637
0.000153
0.041791
273.47
intron_variant
dELS
ENSG00000149177
15,834
ENSG00000254879
17,562
15,834
ENSG00000149177
dELS
ENSG00000149177
16,115
ENSG00000254879
19,011
16,115
ENSG00000149177
distal
NA
NA
11
48,018,082
T
C
false
distal
334
rs900699
0.000122
0.050096
283.4
intron_variant
dELS
ENSG00000149177
37,073
ENSG00000254879
2,226
2,226
ENSG00000254879
dELS
ENSG00000149177
37,354
ENSG00000254879
2,226
2,226
ENSG00000254879
distal
NA
NA
11
48,144,715
G
C
false
missense_variant
298
rs4752904
0.000378
0.43002
1,248.4
missense_variant
missense_variant
ENSG00000149177
0
ENSG00000149177
362
0
ENSG00000149177
missense_variant
ENSG00000175619
72,094
ENSG00000149177
362
362
ENSG00000149177
missense_variant
NA
NA
11
48,712,387
C
T
false
distal
373
rs59377893
0.000309
0.069855
635.02
intergenic_variant
intergenic_variant
ENSG00000237388
222,664
ENSG00000255053
83,893
83,893
ENSG00000255053
intergenic_variant
ENSG00000237388
223,593
ENSG00000255053
84,840
84,840
ENSG00000255053
distal
NA
NA
11
48,978,951
T
G
false
missense_variant
301
rs139591465
0.007061
0.070521
810.06
missense_variant
missense_variant
ENSG00000220948
0
ENSG00000254764
6,916
0
ENSG00000220948
missense_variant
ENSG00000220948
4,933
ENSG00000254764
12,929
4,933
ENSG00000220948
missense_variant
NA
NA
11
48,993,016
T
G
false
distal
368
rs113242436
0.000095
0.001696
23.876
intergenic_variant
intergenic_variant
ENSG00000220948
9,130
ENSG00000254764
1,134
1,134
ENSG00000254764
intergenic_variant
ENSG00000220948
9,130
ENSG00000254764
1,134
1,134
ENSG00000254764
distal
NA
NA
11
49,054,069
G
A
false
missense_variant
310
rs61886906
0.000088
0.056148
1,184.8
missense_variant
missense_variant
ENSG00000214891
0
ENSG00000288434
3,909
0
ENSG00000214891
missense_variant
ENSG00000214891
5,042
ENSG00000288434
3,909
3,909
ENSG00000288434
missense_variant
NA
NA
11
49,164,722
G
A
false
missense_variant
296
rs61886492
0.000058
0.052147
1,154.7
missense_variant
missense_variant
ENSG00000086205
0
ENSG00000086205
0
0
ENSG00000086205
missense_variant
ENSG00000086205
43,437
ENSG00000086205
7,968
7,968
ENSG00000086205
missense_variant
NA
NA
11
49,192,496
C
A
false
distal
341
rs588458
0.000185
0.41764
1,654.6
intron_variant
dELS
ENSG00000086205
296
ENSG00000086205
257
257
ENSG00000086205
dELS
ENSG00000086205
15,663
ENSG00000086205
5,727
5,727
ENSG00000086205
distal
NA
NA
11
49,207,883
C
G
false
missense_variant
290
rs61886516
0.00003
0.034856
777.43
missense_variant
missense_variant
ENSG00000086205
0
ENSG00000086205
0
0
ENSG00000086205
missense_variant
ENSG00000086205
276
ENSG00000086205
443
276
ENSG00000086205
missense_variant
NA
NA
11
54,897,749
A
G
false
distal
371
rs8189355
0.000266
0.16943
936.01
intergenic_variant
intergenic_variant
ENSG00000221840
189,846
ENSG00000255078
171,932
171,932
ENSG00000255078
intergenic_variant
ENSG00000221840
190,916
ENSG00000255078
172,901
172,901
ENSG00000255078
distal
NA
NA
11
54,898,533
G
A
false
distal
371
rs11525508
0.000089
0.1354
794.33
intergenic_variant
intergenic_variant
ENSG00000221840
190,630
ENSG00000255078
172,716
172,716
ENSG00000255078
intergenic_variant
ENSG00000221840
191,700
ENSG00000255078
173,685
173,685
ENSG00000255078
distal
NA
NA
11
55,087,744
A
C
false
distal
371
rs11229155
0.000504
0.17349
1,168.9
intergenic_variant
intergenic_variant
ENSG00000150244
174,410
ENSG00000255543
179,663
174,410
ENSG00000150244
intergenic_variant
ENSG00000150244
174,410
ENSG00000255543
179,663
174,410
ENSG00000150244
distal
NA
NA
11
55,090,597
C
T
false
distal
371
rs56152290
0.000114
0.12311
891.97
intergenic_variant
intergenic_variant
ENSG00000150244
171,557
ENSG00000255543
176,810
171,557
ENSG00000150244
intergenic_variant
ENSG00000150244
171,557
ENSG00000255543
176,810
171,557
ENSG00000150244
distal
NA
NA
11
55,090,724
A
C
false
distal
371
rs2704125
0.005831
0.16889
514.49
intergenic_variant
intergenic_variant
ENSG00000150244
171,430
ENSG00000255543
176,683
171,430
ENSG00000150244
intergenic_variant
ENSG00000150244
171,430
ENSG00000255543
176,683
171,430
ENSG00000150244
distal
NA
NA
11
55,093,231
T
C
false
distal
371
rs11229452
0.000526
0.1732
1,177.1
intergenic_variant
intergenic_variant
ENSG00000150244
168,923
ENSG00000255543
174,176
168,923
ENSG00000150244
intergenic_variant
ENSG00000150244
168,923
ENSG00000255543
174,176
168,923
ENSG00000150244
distal
NA
NA
11
55,093,446
C
T
true
distal
371
rs12362717
0.9965
Height
0.16358
290.28
intergenic_variant
intergenic_variant
ENSG00000150244
168,708
ENSG00000255543
173,961
168,708
ENSG00000150244
intergenic_variant
ENSG00000150244
168,708
ENSG00000255543
173,961
168,708
ENSG00000150244
distal
NA
NA
11
55,093,509
G
T
false
distal
371
rs9705247
0.000485
0.20383
502.76
intergenic_variant
intergenic_variant
ENSG00000150244
168,645
ENSG00000255543
173,898
168,645
ENSG00000150244
intergenic_variant
ENSG00000150244
168,645
ENSG00000255543
173,898
168,645
ENSG00000150244
distal
NA
NA
11
55,096,451
A
T
false
distal
371
rs2335119
0.00048
0.20399
504.82
intergenic_variant
intergenic_variant
ENSG00000150244
165,703
ENSG00000255543
170,956
165,703
ENSG00000150244
intergenic_variant
ENSG00000150244
165,703
ENSG00000255543
170,956
165,703
ENSG00000150244
distal
NA
NA
11
55,096,660
C
T
false
distal
371
rs35995906
0.000114
0.12324
894.9
intergenic_variant
intergenic_variant
ENSG00000150244
165,494
ENSG00000255543
170,747
165,494
ENSG00000150244
intergenic_variant
ENSG00000150244
165,494
ENSG00000255543
170,747
165,494
ENSG00000150244
distal
NA
NA
11
55,368,743
C
T
false
missense_variant
309
rs7927370
0.000258
0.060673
3,046.3
missense_variant
missense_variant
ENSG00000181958
0
ENSG00000254891
19,785
0
ENSG00000181958
missense_variant
ENSG00000181958
768
ENSG00000254891
19,785
768
ENSG00000181958
missense_variant
NA
NA
11
55,606,755
C
T
false
tss_proximal
403
rs150922252
0.000034
0.001968
36.333
intron_variant
intron_variant
ENSG00000172188
75
ENSG00000254841
66,780
75
ENSG00000172188
tss_proximal
ENSG00000172188
889
ENSG00000254841
66,780
889
ENSG00000172188
tss_proximal
tss_prox:b1
tss_prox:b0
11
55,651,487
T
G
false
missense_variant
309
rs7949664
0.000343
0.075852
3,243
missense_variant
missense_variant
ENSG00000174982
0
ENSG00000254841
22,048
0
ENSG00000174982
missense_variant
ENSG00000174982
3,159
ENSG00000254841
22,048
3,159
ENSG00000174982
missense_variant
NA
NA
11
55,739,824
C
T
false
distal
369
rs71488987
0.002253
0.007355
144.22
intergenic_variant
intergenic_variant
ENSG00000186886
10,202
ENSG00000181837
15,152
10,202
ENSG00000186886
intergenic_variant
ENSG00000186886
16,047
ENSG00000181837
15,152
15,152
ENSG00000181837
distal
NA
NA
11
55,891,274
A
C
false
missense_variant
301
rs61897550
0.000085
0.081424
3,547.9
missense_variant
missense_variant
ENSG00000124900
0
ENSG00000255204
10,030
0
ENSG00000124900
missense_variant
ENSG00000124900
5,353
ENSG00000227806
13,003
5,353
ENSG00000124900
missense_variant
NA
NA
11
55,913,673
G
C
false
missense_variant
301
rs62639688
0.000086
0.081427
3,549.1
missense_variant
missense_variant
ENSG00000187612
0
ENSG00000227806
9,394
0
ENSG00000187612
missense_variant
ENSG00000187612
908
ENSG00000227806
9,394
908
ENSG00000187612
missense_variant
NA
NA
11
55,913,940
A
G
false
missense_variant
301
rs17596422
0.000083
0.081576
3,542.1
missense_variant
missense_variant
ENSG00000187612
0
ENSG00000227806
9,661
0
ENSG00000187612
missense_variant
ENSG00000187612
641
ENSG00000227806
9,661
641
ENSG00000187612
missense_variant
NA
NA
11
55,914,104
A
G
false
missense_variant
301
rs17596519
0.000085
0.081487
3,546.1
missense_variant
missense_variant
ENSG00000187612
0
ENSG00000227806
9,825
0
ENSG00000187612
missense_variant
ENSG00000187612
477
ENSG00000227806
9,825
477
ENSG00000187612
missense_variant
NA
NA
11
55,914,466
G
T
false
missense_variant
301
rs17511797
0.00006
0.081553
3,509.5
missense_variant
missense_variant
ENSG00000187612
0
ENSG00000227806
10,187
0
ENSG00000187612
missense_variant
ENSG00000187612
115
ENSG00000227806
10,187
115
ENSG00000187612
missense_variant
NA
NA
11
55,968,042
G
A
false
missense_variant
301
rs61896165
0.000079
0.081667
3,546.3
missense_variant
missense_variant
ENSG00000174970
0
ENSG00000254807
10,411
0
ENSG00000174970
missense_variant
ENSG00000174970
471
ENSG00000254807
10,411
471
ENSG00000174970
missense_variant
NA
NA
11
55,968,173
C
A
false
missense_variant
301
rs61896167
0.000077
0.081659
3,542.5
missense_variant
missense_variant
ENSG00000174970
0
ENSG00000254807
10,542
0
ENSG00000174970
missense_variant
ENSG00000174970
340
ENSG00000254807
10,542
340
ENSG00000174970
missense_variant
NA
NA
11
56,017,091
A
G
false
distal
368
rs539190523
0.000029
0.001799
25.239
intergenic_variant
intergenic_variant
ENSG00000181785
10,562
ENSG00000182365
1,133
1,133
ENSG00000182365
intergenic_variant
ENSG00000181785
10,562
ENSG00000182365
1,133
1,133
ENSG00000182365
distal
NA
NA
11
56,122,680
G
T
false
missense_variant
310
rs61746202
0.000076
0.081686
3,418.1
missense_variant
missense_variant
ENSG00000181761
0
ENSG00000255140
5,423
0
ENSG00000181761
missense_variant
ENSG00000181761
306
ENSG00000255140
5,423
306
ENSG00000181761
missense_variant
NA
NA
11
56,138,496
T
C
false
splicing
405
rs2449138
0.000073
0.081883
3,395.6
splice_region_variant
splice_region_variant
ENSG00000167822
0
ENSG00000167822
1,457
0
ENSG00000167822
splice_region_variant
ENSG00000167822
1,704
ENSG00000167822
1,704
1,704
ENSG00000167822
splicing
NA
splicing:b0
11
56,290,882
A
G
false
missense_variant
316
rs114602656
0.00012
0.018362
121.69
missense_variant
missense_variant
ENSG00000181693
0
ENSG00000255461
5,658
0
ENSG00000181693
missense_variant
ENSG00000181693
207
ENSG00000255461
6,588
207
ENSG00000181693
missense_variant
NA
NA
11
56,376,116
C
T
false
missense_variant
287
rs17150411
0.002223
0.29672
832.26
missense_variant
missense_variant
ENSG00000172199
0
ENSG00000254903
5,518
0
ENSG00000172199
missense_variant
ENSG00000172199
491
ENSG00000254903
5,518
491
ENSG00000172199
missense_variant
NA
NA
11
56,417,871
T
C
false
missense_variant
310
rs7111634
0.000087
0.080907
2,874.8
missense_variant
missense_variant
ENSG00000279961
0
ENSG00000272987
4,190
0
ENSG00000279961
missense_variant
ENSG00000279961
360
ENSG00000272987
5,174
360
ENSG00000279961
missense_variant
NA
NA
11
56,417,925
C
T
false
missense_variant
310
rs7123108
0.000084
0.08089
2,875.6
missense_variant
missense_variant
ENSG00000279961
0
ENSG00000272987
4,244
0
ENSG00000279961
missense_variant
ENSG00000279961
306
ENSG00000272987
5,228
306
ENSG00000279961
missense_variant
NA
NA
11
56,613,495
G
A
false
missense_variant
316
rs151301846
0.00004
0.017517
482.78
missense_variant
missense_variant
ENSG00000255012
0
ENSG00000255172
6,283
0
ENSG00000255012
missense_variant
ENSG00000255012
1,378
ENSG00000255172
7,314
1,378
ENSG00000255012
missense_variant
NA
NA
11
56,700,892
C
T
false
missense_variant
301
rs11228733
0.007705
0.08548
321.06
missense_variant
missense_variant
ENSG00000174914
0
ENSG00000238041
10,168
0
ENSG00000174914
missense_variant
ENSG00000174914
1,796
ENSG00000238041
10,426
1,796
ENSG00000174914
missense_variant
NA
NA
11
56,743,147
A
G
false
missense_variant
289
rs513873
0.000968
0.31953
468.52
missense_variant
missense_variant
ENSG00000172457
0
ENSG00000172457
0
0
ENSG00000172457
missense_variant
ENSG00000172457
5,548
ENSG00000274770
725
725
ENSG00000274770
missense_variant
NA
NA
11
56,743,878
G
A
false
non_coding_transcript_exon_variant
349
rs67042258
0.000066
0.25866
456.88
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000172457
89
ENSG00000274770
0
0
ENSG00000274770
non_coding_transcript_exon_variant
ENSG00000172457
4,817
ENSG00000274770
4
4
ENSG00000274770
non_coding_transcript_exon_variant
NA
NA
11
56,745,419
A
G
false
distal
384
rs12417975
0.000068
0.25868
453.21
intron_variant
intron_variant
ENSG00000172457
1,630
ENSG00000274770
1,437
1,437
ENSG00000274770
intron_variant
ENSG00000172457
3,276
ENSG00000274770
1,545
1,545
ENSG00000274770
distal
NA
NA
11
56,962,764
C
T
true
distal
372
rs148496057
0.99256
HDLC
0.003961
15.638
intergenic_variant
intergenic_variant
ENSG00000181273
26,149
ENSG00000181282
8,285
8,285
ENSG00000181282
intergenic_variant
ENSG00000181273
26,149
ENSG00000181282
8,285
8,285
ENSG00000181282
distal
NA
NA
11
57,236,848
C
T
false
missense_variant
300
rs145108815
0.00014
0.000463
5.9912
missense_variant
missense_variant
ENSG00000134817
0
ENSG00000134817
0
0
ENSG00000134817
missense_variant
ENSG00000134817
401
ENSG00000134817
386
386
ENSG00000134817
missense_variant
NA
NA
11
57,310,403
C
T
false
missense_variant
307
rs79359831
0.000042
0.000058
38.286
missense_variant
missense_variant
ENSG00000149115
0
ENSG00000149115
0
0
ENSG00000149115
missense_variant
ENSG00000149115
1,065
ENSG00000149115
6,923
1,065
ENSG00000149115
missense_variant
NA
NA
11
57,311,480
C
T
false
tss_proximal
355
rs3935069
0.001079
0.45743
207.31
intron_variant
dELS
ENSG00000149115
10
ENSG00000149115
923
10
ENSG00000149115
tss_proximal
ENSG00000149115
10
ENSG00000149115
8,000
10
ENSG00000149115
tss_proximal
tss_prox:b0
tss_prox:b0
11
57,313,723
G
C
false
missense_variant
314
rs4939134
0.000464
0.46718
177.72
missense_variant
missense_variant
ENSG00000149115
0
ENSG00000149115
0
0
ENSG00000149115
missense_variant
ENSG00000149115
2,253
ENSG00000149115
10,243
2,253
ENSG00000149115
missense_variant
NA
NA
11
57,378,752
A
G
true
missense_variant
301
rs34108746
0.976165
Eosino
0.078008
51.108
missense_variant
missense_variant
ENSG00000156575
0
ENSG00000254979
8,612
0
ENSG00000156575
missense_variant
ENSG00000156575
2,397
ENSG00000186652
11,876
2,397
ENSG00000156575
missense_variant
NA
NA
11
57,410,120
A
G
false
splicing
406
rs62640922
0.002385
0.044116
103.24
splice_region_variant
splice_region_variant
ENSG00000134802
0
ENSG00000134802
821
0
ENSG00000134802
splice_region_variant
ENSG00000254979
6
ENSG00000134802
1,370
6
ENSG00000254979
splicing
NA
splicing:b0
11
57,426,445
G
A
false
non_coding_transcript_exon_variant
349
rs11229028
0.000378
0.25411
130.93
non_coding_transcript_exon_variant
non_coding_transcript_exon_variant
ENSG00000134802
55
ENSG00000134802
0
0
ENSG00000134802
non_coding_transcript_exon_variant
ENSG00000134802
206
ENSG00000134802
33
33
ENSG00000134802
non_coding_transcript_exon_variant
NA
NA
11
57,449,174
A
G
false
distal
368
rs529647866
0.000101
0.001201
25.458
intergenic_variant
intergenic_variant
ENSG00000186907
11,353
ENSG00000252070
1,008
1,008
ENSG00000252070
intergenic_variant
ENSG00000186907
11,353
ENSG00000252070
1,008
1,008
ENSG00000252070
distal
NA
NA
11
57,500,779
C
T
false
splicing
406
rs112450479
0.003125
0.04039
107.64
splice_region_variant
splice_region_variant
ENSG00000149150
0
ENSG00000149150
0
0
ENSG00000149150
splice_region_variant
ENSG00000149150
539
ENSG00000149150
1,101
539
ENSG00000149150
splicing
NA
splicing:b0
11
57,537,364
C
T
false
tss_proximal
377
rs75617847
0.001404
0.094808
80.631
upstream_gene_variant
PLS
ENSG00000214872
230
ENSG00000265566
8,998
230
ENSG00000214872
tss_proximal
ENSG00000214872
230
ENSG00000265566
8,998
230
ENSG00000214872
tss_proximal
tss_prox:b1
tss_prox:b1
11
57,552,877
A
G
false
distal
341
rs2649656
0.000208
0.4274
172.33
intron_variant
dELS
ENSG00000156587
367
ENSG00000156587
367
367
ENSG00000156587
dELS
ENSG00000156587
14,425
ENSG00000156587
7,638
7,638
ENSG00000156587
distal
NA
NA
11
57,712,035
C
A
false
missense_variant
302
rs199862897
0.000088
0.004299
16.166
missense_variant
missense_variant
ENSG00000156603
0
ENSG00000156603
0
0
ENSG00000156603
missense_variant
ENSG00000156603
179
ENSG00000156603
171
171
ENSG00000156603
missense_variant
NA
NA
11
57,741,925
A
T
false
missense_variant
302
rs185768359
0.000327
0.00383
27.718
missense_variant
missense_variant
ENSG00000211450
0
ENSG00000211450
0
0
ENSG00000211450
missense_variant
ENSG00000211450
242
ENSG00000254732
145
145
ENSG00000254732
missense_variant
NA
NA
11
58,031,251
A
G
false
missense_variant
287
rs921135
0.000221
0.29503
362.93
missense_variant
missense_variant
ENSG00000279051
0
ENSG00000200817
4,438
0
ENSG00000279051
missense_variant
ENSG00000279051
297
ENSG00000200817
4,438
297
ENSG00000279051
missense_variant
NA
NA
11
58,031,470
A
G
false
missense_variant
287
rs2513726
0.000246
0.29524
362.47
missense_variant
missense_variant
ENSG00000279051
0
ENSG00000200817
4,657
0
ENSG00000279051
missense_variant
ENSG00000279051
516
ENSG00000200817
4,657
516
ENSG00000279051
missense_variant
NA
NA
11
58,368,287
T
C
false
distal
368
rs140382058
0.000104
0.003929
20.137
intergenic_variant
intergenic_variant
ENSG00000197786
9,217
ENSG00000233499
1,523
1,523
ENSG00000233499
intergenic_variant
ENSG00000197786
9,217
ENSG00000233499
1,523
1,523
ENSG00000233499
distal
NA
NA
11
58,532,000
C
G
false
distal
320
rs2515352
0.000952
0.41077
490.42
intron_variant
dELS
ENSG00000110031
3,808
ENSG00000110031
3,808
3,808
ENSG00000110031
dELS
ENSG00000198283
23,894
ENSG00000255299
26,241
23,894
ENSG00000198283
distal
NA
NA
11
58,588,119
A
T
false
distal
383
rs189807675
0.000026
0.000972
10.578
intron_variant
intron_variant
ENSG00000186660
3,234
ENSG00000255073
3,234
3,234
ENSG00000186660
intron_variant
ENSG00000186660
9,055
ENSG00000255073
8,946
8,946
ENSG00000255073
distal
NA
NA
11
58,654,340
C
T
false
distal
344
rs187777786
0.000048
0.012589
55.767
intron_variant
dELS
ENSG00000149124
11,084
ENSG00000280010
25,811
11,084
ENSG00000149124
dELS
ENSG00000242689
31,674
ENSG00000280010
26,904
26,904
ENSG00000280010
distal
NA
NA
11
58,728,371
A
T
false
tss_proximal
380
rs11229602
0.000048
0.14663
317.24
intron_variant
PLS_flank
ENSG00000149124
292
ENSG00000149124
3,463
292
ENSG00000149124
tss_proximal
ENSG00000149124
357
ENSG00000149124
3,556
357
ENSG00000149124
tss_proximal
tss_prox:b1
tss_prox:b1
11
58,772,053
A
T
false
distal
398
rs4373954
0.000043
0.15631
319.68
intron_variant
pELS
ENSG00000149124
40,078
ENSG00000289621
1,217
1,217
ENSG00000289621
pELS
ENSG00000149124
40,078
ENSG00000289621
1,639
1,639
ENSG00000289621
distal
NA
NA
11
58,880,972
A
G
false
distal
334
rs678727
0.000101
0.04025
328.71
intron_variant
dELS
ENSG00000156689
36,267
ENSG00000254717
2,590
2,590
ENSG00000254717
dELS
ENSG00000156689
36,267
ENSG00000254717
2,669
2,669
ENSG00000254717
distal
NA
NA
11
59,040,821
C
T
false
distal
398
rs36110001
0.00033
0.18943
321.37
intron_variant
pELS
ENSG00000255151
45,485
ENSG00000254399
1,915
1,915
ENSG00000254399
pELS
ENSG00000255151
45,485
ENSG00000254399
1,915
1,915
ENSG00000254399
distal
NA
NA
11
59,073,155
T
C
false
distal
369
rs548200377
0.000054
0.006341
25.128
intergenic_variant
intergenic_variant
ENSG00000255151
13,151
ENSG00000255240
14,495
13,151
ENSG00000255151
intergenic_variant
ENSG00000255151
13,151
ENSG00000255240
14,495
13,151
ENSG00000255151
distal
NA
NA
11
59,814,473
G
T
false
distal
365
rs187149093
0.000044
0.001774
6.7958
intergenic_variant
dELS_flank
ENSG00000166902
3,694
ENSG00000166902
3,699
3,694
ENSG00000166902
dELS_flank
ENSG00000166902
3,694
ENSG00000166902
3,699
3,694
ENSG00000166902
distal
NA
NA
11
59,864,062
C
T
false
missense_variant
306
rs34528912
0.000077
0.038687
18.904
missense_variant
missense_variant
ENSG00000134827
0
ENSG00000134827
0
0
ENSG00000134827
missense_variant
ENSG00000134827
2,424
ENSG00000134827
1,426
1,426
ENSG00000134827
missense_variant
NA
NA
11
59,895,590
T
C
false
missense_variant
311
rs549236
0.000054
0.052284
18.136
missense_variant
missense_variant
ENSG00000285231
0
ENSG00000270929
2,594
0
ENSG00000285231
missense_variant
ENSG00000285231
16,807
ENSG00000270929
2,594
2,594
ENSG00000270929
missense_variant
NA
NA
11
59,928,145
G
A
false
distal
369
rs180843872
0.000316
0.003263
17.741
intergenic_variant
intergenic_variant
ENSG00000284873
10,286
ENSG00000214788
14,733
10,286
ENSG00000284873
intergenic_variant
ENSG00000284873
10,286
ENSG00000214788
14,733
10,286
ENSG00000284873
distal
NA
NA
11
59,950,798
C
T
false
distal
383
rs180859601
0.000067
0.001539
15.641
intron_variant
intron_variant
ENSG00000284873
1,771
ENSG00000214788
2,935
1,771
ENSG00000284873
intron_variant
ENSG00000284873
12,365
ENSG00000214788
7,918
7,918
ENSG00000214788
distal
NA
NA
11
60,079,021
A
G
false
distal
402
rs549680
0.005419
0.28344
202.03
downstream_gene_variant
CA-TF
ENSG00000149516
7,905
ENSG00000255331
619
619
ENSG00000255331
CA-TF
ENSG00000149534
9,239
ENSG00000255331
1,670
1,670
ENSG00000255331
distal
NA
NA
11
60,086,840
C
T
false
distal
347
rs10792255
0.000029
0.2908
198.1
intergenic_variant
pELS_flank
ENSG00000149534
1,420
ENSG00000149534
1,823
1,420
ENSG00000149534
pELS_flank
ENSG00000149534
1,420
ENSG00000149534
1,823
1,420
ENSG00000149534
distal
NA
NA
11
60,088,555
T
C
false
5_prime_UTR_variant
281
rs1441586
0.000341
0.43456
295.57
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000149534
0
ENSG00000149534
108
0
ENSG00000149534
5_prime_UTR_variant
ENSG00000149534
108
ENSG00000149534
108
108
ENSG00000149534
5_prime_UTR_variant
NA
NA
11
60,200,893
G
A
false
3_prime_UTR_variant
392
rs181216218
0.000015
0.028417
47.181
3_prime_UTR_variant
3_prime_UTR_variant
ENSG00000214787
0
ENSG00000214787
359
0
ENSG00000214787
3_prime_UTR_variant
ENSG00000110079
14,852
ENSG00000275344
8,262
8,262
ENSG00000275344
3_prime_UTR_variant
NA
NA
11
60,208,640
C
A
false
missense_variant
297
rs674971
0.0002
0.06253
121.58
missense_variant
missense_variant
ENSG00000214787
0
ENSG00000275344
430
0
ENSG00000214787
missense_variant
ENSG00000214787
21,414
ENSG00000275344
515
515
ENSG00000275344
missense_variant
NA
NA
11
60,282,652
A
G
false
missense_variant
289
rs10792260
0.00033
0.31668
117.73
missense_variant
missense_variant
ENSG00000110079
1,935
ENSG00000110079
0
0
ENSG00000110079
missense_variant
ENSG00000110079
1,985
ENSG00000110079
1,982
1,982
ENSG00000110079
missense_variant
NA
NA
11
60,327,346
C
T
false
5_prime_UTR_variant
280
rs11230265
0.001074
0.36001
279.64
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000166926
0
ENSG00000166926
7,624
0
ENSG00000166926
5_prime_UTR_variant
ENSG00000166926
90
ENSG00000166926
7,624
90
ENSG00000166926
5_prime_UTR_variant
NA
NA
11
60,327,369
C
T
false
5_prime_UTR_variant
280
rs11230266
0.001069
0.36001
279.63
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000166926
0
ENSG00000166926
7,601
0
ENSG00000166926
5_prime_UTR_variant
ENSG00000166926
113
ENSG00000166926
7,601
113
ENSG00000166926
5_prime_UTR_variant
NA
NA
11
60,327,385
C
T
false
5_prime_UTR_variant
280
rs11230267
0.00108
0.36004
279.61
5_prime_UTR_variant
5_prime_UTR_variant
ENSG00000166926
0
ENSG00000166926
7,585
0
ENSG00000166926
5_prime_UTR_variant
ENSG00000166926
129
ENSG00000166926
7,585
129
ENSG00000166926
5_prime_UTR_variant
NA
NA