chrom
stringclasses
19 values
pos
int64
90.7k
249M
ref
stringclasses
4 values
alt
stringclasses
4 values
OMIM
stringclasses
113 values
consequence
stringclasses
12 values
label
bool
2 classes
tss_dist
int64
0
372k
match_group
stringclasses
338 values
1
112,956,192
C
T
MIM 610021
5_prime_UTR_variant
true
3
5_prime_UTR_variant_5
1
116,667,652
A
T
null
5_prime_UTR_variant
false
80
5_prime_UTR_variant_4
1
118,989,585
G
A
null
PLS
false
28
PLS_1
1
144,461,476
A
G
null
5_prime_UTR_variant
false
81
5_prime_UTR_variant_4
1
148,844,309
G
A
null
5_prime_UTR_variant
false
40
5_prime_UTR_variant_3
1
148,844,640
G
T
null
5_prime_UTR_variant
false
26
5_prime_UTR_variant_0
1
149,103,581
G
A
null
PLS
false
19
PLS_3
1
150,811,509
T
C
null
3_prime_UTR_variant
false
2,600
3_prime_UTR_variant_2
1
152,037,054
T
C
null
PLS
false
49
PLS_4
1
152,687,329
G
A
null
3_prime_UTR_variant
false
1,205
3_prime_UTR_variant_0
1
152,786,180
C
A
null
PLS
false
33
PLS_0
1
153,001,778
C
T
null
5_prime_UTR_variant
false
26
5_prime_UTR_variant_0
1
153,057,485
C
T
null
5_prime_UTR_variant
false
26
5_prime_UTR_variant_0
1
153,373,787
A
G
null
3_prime_UTR_variant
false
1,833
3_prime_UTR_variant_1
1
153,420,517
T
C
null
3_prime_UTR_variant
false
2,572
3_prime_UTR_variant_2
1
154,567,831
A
G
null
5_prime_UTR_variant
false
3
5_prime_UTR_variant_5
1
154,608,755
G
C
null
5_prime_UTR_variant
false
41
5_prime_UTR_variant_3
1
155,301,467
T
C
MIM 266200
PLS
true
28
PLS_1
1
155,301,478
C
G
MIM 266200
PLS
true
39
PLS_2
1
156,126,057
C
T
null
PLS
false
102
PLS_5
1
156,126,596
G
A
null
5_prime_UTR_variant
false
40
5_prime_UTR_variant_3
1
156,292,862
A
C
null
3_prime_UTR_variant
false
1,213
3_prime_UTR_variant_0
1
158,254,492
A
G
null
5_prime_UTR_variant
false
67
5_prime_UTR_variant_6
1
158,353,943
T
G
null
5_prime_UTR_variant
false
26
5_prime_UTR_variant_0
1
158,357,108
T
C
null
3_prime_UTR_variant
false
1,213
3_prime_UTR_variant_0
1
158,754,747
T
C
null
5_prime_UTR_variant
false
26
5_prime_UTR_variant_0
1
159,009,146
A
G
null
5_prime_UTR_variant
false
150
5_prime_UTR_variant_7
1
159,927,336
C
T
null
3_prime_UTR_variant
false
1,828
3_prime_UTR_variant_1
1
159,927,342
T
C
null
3_prime_UTR_variant
false
1,834
3_prime_UTR_variant_1
1
160,032,009
G
C
MIM 610293
PLS
true
18
PLS_3
1
161,044,937
A
G
null
5_prime_UTR_variant
false
3
5_prime_UTR_variant_5
1
161,166,434
C
A
null
5_prime_UTR_variant
false
3
5_prime_UTR_variant_5
1
162,368,695
A
G
null
3_prime_UTR_variant
false
1,786
3_prime_UTR_variant_1
1
162,381,796
G
A
null
5_prime_UTR_variant
false
67
5_prime_UTR_variant_6
1
165,445,274
C
A
null
5_prime_UTR_variant
false
80
5_prime_UTR_variant_4
1
166,058,040
C
T
null
3_prime_UTR_variant
false
108,928
3_prime_UTR_variant_4
1
166,058,634
T
C
null
3_prime_UTR_variant
false
108,334
3_prime_UTR_variant_4
1
166,058,664
G
A
null
3_prime_UTR_variant
false
108,304
3_prime_UTR_variant_4
1
166,059,499
A
G
null
3_prime_UTR_variant
false
107,469
3_prime_UTR_variant_3
1
166,059,558
C
T
null
3_prime_UTR_variant
false
107,410
3_prime_UTR_variant_3
1
166,059,575
G
A
null
3_prime_UTR_variant
false
107,393
3_prime_UTR_variant_3
1
166,059,676
C
T
null
3_prime_UTR_variant
false
107,292
3_prime_UTR_variant_3
1
166,060,226
T
C
null
3_prime_UTR_variant
false
106,742
3_prime_UTR_variant_3
1
167,630,073
T
G
null
PLS
false
19
PLS_3
1
167,936,749
A
G
null
5_prime_UTR_variant
false
40
5_prime_UTR_variant_3
1
168,136,861
A
G
null
5_prime_UTR_variant
false
68
5_prime_UTR_variant_6
1
168,137,545
C
T
null
5_prime_UTR_variant
false
27
5_prime_UTR_variant_1
1
168,544,036
A
G
null
PLS
false
38
PLS_2
1
169,733,631
C
A
null
5_prime_UTR_variant
false
27
5_prime_UTR_variant_0
1
169,764,726
T
C
null
PLS
false
20
PLS_3
1
171,485,638
C
T
null
5_prime_UTR_variant
false
81
5_prime_UTR_variant_4
1
171,600,579
T
C
null
PLS
false
41
PLS_2
1
171,652,619
G
A
MIM 137750
5_prime_UTR_variant
true
68
5_prime_UTR_variant_6
1
171,652,737
A
C
MIM 137750
PLS
true
48
PLS_4
1
171,970,150
C
A
null
5_prime_UTR_variant
false
27
5_prime_UTR_variant_1
1
173,917,430
G
C
MIM 613118
PLS
true
102
PLS_5
1
175,192,713
G
T
null
5_prime_UTR_variant
false
40
5_prime_UTR_variant_3
1
178,869,250
G
A
null
5_prime_UTR_variant
false
27
5_prime_UTR_variant_1
1
180,198,509
T
C
null
3_prime_UTR_variant
false
1,826
3_prime_UTR_variant_1
1
181,317,731
C
A
null
5_prime_UTR_variant
false
40
5_prime_UTR_variant_3
1
182,391,708
C
G
null
5_prime_UTR_variant
false
81
5_prime_UTR_variant_4
1
182,453,532
G
A
null
5_prime_UTR_variant
false
147
5_prime_UTR_variant_7
1
182,671,948
G
A
null
PLS
false
18
PLS_3
1
183,186,170
G
A
null
PLS
false
67
PLS_6
1
183,186,264
A
G
null
5_prime_UTR_variant
false
0
5_prime_UTR_variant_2
1
183,590,706
G
A
null
PLS
false
101
PLS_5
1
183,653,315
T
A
null
5_prime_UTR_variant
false
0
5_prime_UTR_variant_2
1
184,037,758
T
A
null
PLS
false
28
PLS_1
1
185,156,912
G
A
null
5_prime_UTR_variant
false
40
5_prime_UTR_variant_3
1
196,651,787
C
T
null
5_prime_UTR_variant
false
3
5_prime_UTR_variant_5
1
200,620,682
C
T
null
5_prime_UTR_variant
false
68
5_prime_UTR_variant_6
1
200,738,897
T
C
null
5_prime_UTR_variant
false
3
5_prime_UTR_variant_5
1
200,858,678
A
G
null
3_prime_UTR_variant
false
2,583
3_prime_UTR_variant_2
1
201,127,255
A
G
null
PLS
false
70
PLS_6
1
202,161,626
T
C
null
PLS
false
37
PLS_2
1
202,727,119
C
T
null
3_prime_UTR_variant
false
2,595
3_prime_UTR_variant_2
1
202,807,320
G
A
null
5_prime_UTR_variant
false
27
5_prime_UTR_variant_1
1
203,305,490
G
A
null
PLS
false
28
PLS_1
1
203,351,776
A
T
null
PLS
false
17
PLS_3
1
203,795,675
C
T
null
5_prime_UTR_variant
false
3
5_prime_UTR_variant_5
1
205,257,160
T
C
null
PLS
false
28
PLS_1
1
206,768,184
T
C
null
3_prime_UTR_variant
false
2,579
3_prime_UTR_variant_2
1
206,946,508
C
A
null
PLS
false
41
PLS_2
1
207,890,463
G
A
null
5_prime_UTR_variant
false
28
5_prime_UTR_variant_1
1
209,651,362
A
T
null
5_prime_UTR_variant
false
27
5_prime_UTR_variant_0
1
209,802,016
T
A
MIM 119300
5_prime_UTR_variant
true
149
5_prime_UTR_variant_7
1
215,082,634
C
T
null
PLS
false
102
PLS_5
1
215,083,545
G
A
null
5_prime_UTR_variant
false
27
5_prime_UTR_variant_1
1
217,137,726
C
T
null
5_prime_UTR_variant
false
27
5_prime_UTR_variant_1
1
220,879,423
A
G
null
PLS
false
19
PLS_3
1
222,739,765
A
G
null
5_prime_UTR_variant
false
80
5_prime_UTR_variant_4
1
223,665,771
C
T
null
PLS
false
47
PLS_4
1
224,158,091
T
C
null
3_prime_UTR_variant
false
17,664
3_prime_UTR_variant_5
1
224,330,140
C
T
null
5_prime_UTR_variant
false
0
5_prime_UTR_variant_2
1
226,871,336
C
T
null
5_prime_UTR_variant
false
67
5_prime_UTR_variant_6
1
228,083,263
G
C
null
5_prime_UTR_variant
false
40
5_prime_UTR_variant_3
1
228,149,860
A
G
MIM 608804
PLS
true
69
PLS_6
1
228,406,870
T
G
null
PLS
false
34
PLS_0
1
232,561,594
T
C
null
PLS
false
35
PLS_0
1
232,629,959
G
C
null
5_prime_UTR_variant
false
149
5_prime_UTR_variant_7