Dataset Viewer
Auto-converted to Parquet Duplicate
split
large_stringclasses
1 value
source_index
int64
1
32.7k
pair_id
large_stringlengths
19
19
component_id
large_stringlengths
15
15
sequence
large_stringlengths
170
170
alt_sequence
large_stringlengths
170
170
label
bool
2 classes
delta_psi
float32
-1
0.48
delta_psi_rep1
float32
-1
0.54
delta_psi_rep2
float32
-1
0.53
ref_inclusion
float32
0.5
1
alt_inclusion
float32
0
1
chrom
large_stringclasses
24 values
position
int64
155k
248M
ref
large_stringclasses
4 values
alt
large_stringclasses
4 values
strand
large_stringclasses
2 values
variant_offset
int64
10
159
exon_start
int64
41
81
exon_end
int64
99
140
region
large_stringclasses
3 values
splice_site_offset
int64
-53
52
assay_hg38_alignment
large_stringclasses
3 values
test
1
ENSE00000332835_007
ENSE00000332835
GAGGGAGCATGCTTCAGGCAGCCCTTCCGGCATCTACCAGCCATGCCTGCTTTCTCCCACAGGAGGTGAAGGACACAGTGGATGGGCAGAGGATCCTGGAGAAGAAGGGCAGTGCTGCGGTAAGACAGAGCGGTGCCCAAGCACGGCTCCCTCCTACCTGTAGCCTCCCT
GAGGGAGCATGCTTCAGGCAGCCCTTCCAGCATCTACCAGCCATGCCTGCTTTCTCCCACAGGAGGTGAAGGACACAGTGGATGGGCAGAGGATCCTGGAGAAGAAGGGCAGTGCTGCGGTAAGACAGAGCGGTGCCCAAGCACGGCTCCCTCCTACCTGTAGCCTCCCT
false
0.044049
-0.05348
0.141578
0.830145
0.874194
chrX
48,981,506
C
T
-
28
62
119
upstream_intron
-34
exact
test
3
ENSE00000338771_002
ENSE00000338771
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGAGCAGGTGGCAGGCAAAAAC
true
-0.702978
-0.599316
-0.806641
0.712929
0.009951
chr15
40,737,617
C
T
-
150
41
140
downstream_intron
11
exact
test
4
ENSE00000338771_003
ENSE00000338771
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAAAGGGGCAGGTGGCAGGCAAAAAC
false
0.228068
0.268491
0.187646
0.712929
0.940997
chr15
40,737,621
C
T
-
146
41
140
downstream_intron
7
exact
test
5
ENSE00000338771_006
ENSE00000338771
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCAACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
false
0.17361
0.181799
0.165421
0.712929
0.886539
chr15
40,737,661
G
T
-
106
41
140
exon
-34
exact
test
6
ENSE00000338771_008
ENSE00000338771
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCTTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
false
0.192334
0.328778
0.055889
0.712929
0.905263
chr15
40,737,671
G
A
-
96
41
140
exon
-44
exact
test
7
ENSE00000338771_009
ENSE00000338771
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAACCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
false
0.112498
0.239317
-0.01432
0.712929
0.825427
chr15
40,737,674
C
T
-
93
41
140
exon
-47
exact
test
8
ENSE00000338771_010
ENSE00000338771
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTAGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
true
-0.659868
-0.587876
-0.73186
0.712929
0.053061
chr15
40,737,679
A
T
-
88
41
140
exon
48
exact
test
9
ENSE00000338771_012
ENSE00000338771
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAACACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
false
0.087071
0.181799
-0.007657
0.712929
0.8
chr15
40,737,697
T
G
-
70
41
140
exon
30
exact
test
10
ENSE00000338771_013
ENSE00000338771
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGGAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
false
0.087071
0.181799
-0.007657
0.712929
0.8
chr15
40,737,704
T
C
-
63
41
140
exon
23
exact
test
11
ENSE00000338771_014
ENSE00000338771
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTGGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
false
0.151763
0.162933
0.140592
0.712929
0.864692
chr15
40,737,706
T
C
-
61
41
140
exon
21
exact
test
12
ENSE00000338771_016
ENSE00000338771
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCGCCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
false
0.087071
0.181799
-0.007657
0.712929
0.8
chr15
40,737,719
T
C
-
48
41
140
exon
8
exact
test
13
ENSE00000338771_021
ENSE00000338771
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
TTTTAAAACCTCTTATACACACCTCGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
false
0.090987
0.189631
-0.007657
0.712929
0.803916
chr15
40,737,743
A
G
-
24
41
140
upstream_intron
-17
exact
test
14
ENSE00000338771_022
ENSE00000338771
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
TTTTAAAACCTCTTATACACCCCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
false
0.063473
0.129764
-0.002818
0.712929
0.776402
chr15
40,737,747
T
G
-
20
41
140
upstream_intron
-21
exact
test
15
ENSE00000338771_023
ENSE00000338771
TTTTAAAACCTCTTATACACACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
TTTTAAAACCTCTTATACGCACCTTGATCTTTTTGTGGCAGGTCTCTCACCTGAGCTGGCTAGAAAAAAAAACTGCTACAGCCTTGCTTGAAAGCCCTCTCAGTGCCACTGTGGAAGATGCCCTCCAGAGCTTCCTAAAGGTATGAGAGGGGCAGGTGGCAGGCAAAAAC
false
0.069215
0.181799
-0.043368
0.712929
0.782144
chr15
40,737,749
T
C
-
18
41
140
upstream_intron
-23
exact
test
17
ENSE00000373145_001
ENSE00000373145
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
AGGGCAAAAATGAAGGCGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
false
0.015625
0.027751
0.003499
0.984291
0.999916
chr14
93,686,543
T
C
+
16
45
135
upstream_intron
-29
exact
test
18
ENSE00000373145_002
ENSE00000373145
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
AGGGCAAAAATGAAGGTGTGACTCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
false
0.015548
0.02743
0.003667
0.984291
0.99984
chr14
93,686,549
C
T
+
22
45
135
upstream_intron
-23
exact
test
19
ENSE00000373145_003
ENSE00000373145
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
AGGGCAAAAATGAAGGTGTGACCAAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
false
0.000293
0.027751
-0.027164
0.984291
0.984585
chr14
93,686,550
C
A
+
23
45
135
upstream_intron
-22
exact
test
20
ENSE00000373145_004
ENSE00000373145
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTATTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
false
0.015709
0.027751
0.003667
0.984291
1
chr14
93,686,565
G
A
+
38
45
135
upstream_intron
-7
exact
test
21
ENSE00000373145_005
ENSE00000373145
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGCGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
false
0.015709
0.027751
0.003667
0.984291
1
chr14
93,686,574
T
C
+
47
45
135
exon
3
exact
test
22
ENSE00000373145_006
ENSE00000373145
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCAATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
false
0.012514
0.021362
0.003667
0.984291
0.996806
chr14
93,686,586
G
A
+
59
45
135
exon
15
exact
test
23
ENSE00000373145_008
ENSE00000373145
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAAGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
false
0.015709
0.027751
0.003667
0.984291
1
chr14
93,686,600
G
A
+
73
45
135
exon
29
exact
test
24
ENSE00000373145_009
ENSE00000373145
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAGCGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
false
0.011125
0.020319
0.001931
0.984291
0.995416
chr14
93,686,612
A
G
+
85
45
135
exon
41
exact
test
25
ENSE00000373145_010
ENSE00000373145
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAATGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
false
-0.017615
-0.038196
0.002966
0.984291
0.966676
chr14
93,686,613
C
T
+
86
45
135
exon
42
exact
test
26
ENSE00000373145_012
ENSE00000373145
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGGACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
false
0.015621
0.027751
0.003492
0.984291
0.999913
chr14
93,686,641
C
G
+
114
45
135
exon
-21
exact
test
27
ENSE00000373145_013
ENSE00000373145
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACACTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
false
0.015522
0.027751
0.003293
0.984291
0.999813
chr14
93,686,646
G
A
+
119
45
135
exon
-16
exact
test
28
ENSE00000373145_015
ENSE00000373145
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACTGCCACCTGCTCATCCCTCAGGTTC
false
0.007819
0.016284
-0.000645
0.984291
0.992111
chr14
93,686,672
C
T
+
145
45
135
downstream_intron
11
exact
test
29
ENSE00000373145_016
ENSE00000373145
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCACCACCTGCTCATCCCTCAGGTTC
false
0.011188
0.019194
0.003181
0.984291
0.995479
chr14
93,686,673
G
A
+
146
45
135
downstream_intron
12
exact
test
30
ENSE00000373145_018
ENSE00000373145
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCTCCTGCTCATCCCTCAGGTTC
false
0.015709
0.027751
0.003667
0.984291
1
chr14
93,686,676
A
T
+
149
45
135
downstream_intron
15
exact
test
31
ENSE00000373145_019
ENSE00000373145
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCCGCTCATCCCTCAGGTTC
false
0.015627
0.027751
0.003503
0.984291
0.999918
chr14
93,686,679
T
C
+
152
45
135
downstream_intron
18
exact
test
32
ENSE00000373145_021
ENSE00000373145
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATCCCTCAGGTTC
AGGGCAAAAATGAAGGTGTGACCCAGCTGTGTCCTTGTGTTTCAGTGTGGGACTGCAGCGATGGAGTGTGTGAGGCAGTACATCAACGAAGTGCTGGATTTCATGGCAGACATGCACACGCTGACCAAACTGAAGGTGAGATGACCGCCACCTGCTCATTCCTCAGGTTC
false
0.015709
0.027751
0.003667
0.984291
1
chr14
93,686,686
C
T
+
159
45
135
downstream_intron
25
exact
test
34
ENSE00000377990_001
ENSE00000377990
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
CCACTGAGGGAGACTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
false
-0.02748
0.005283
-0.060243
0.97903
0.95155
chr19
45,266,175
G
A
+
12
62
119
upstream_intron
-50
exact
test
35
ENSE00000377990_002
ENSE00000377990
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
CCACTGAGGGAGGCTGAGGGCTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
null
null
null
null
0.97903
null
chr19
45,266,183
T
C
+
20
62
119
upstream_intron
-42
exact
test
36
ENSE00000377990_003
ENSE00000377990
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAGCCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
false
-0.001117
-0.013448
0.011213
0.97903
0.977912
chr19
45,266,205
A
G
+
42
62
119
upstream_intron
-20
exact
test
37
ENSE00000377990_004
ENSE00000377990
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCACCCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
false
-0.030377
-0.050589
-0.010166
0.97903
0.948652
chr19
45,266,205
A
C
+
42
62
119
upstream_intron
-20
exact
test
38
ENSE00000377990_005
ENSE00000377990
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTTGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
false
-0.174019
-0.157612
-0.190427
0.97903
0.80501
chr19
45,266,232
C
T
+
69
62
119
exon
8
exact
test
39
ENSE00000377990_006
ENSE00000377990
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCAGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
false
-0.07825
-0.143455
-0.013044
0.97903
0.90078
chr19
45,266,233
G
A
+
70
62
119
exon
9
exact
test
40
ENSE00000377990_007
ENSE00000377990
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTATGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
false
-0.153345
-0.142093
-0.164597
0.97903
0.825685
chr19
45,266,237
G
A
+
74
62
119
exon
13
exact
test
41
ENSE00000377990_010
ENSE00000377990
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGAGCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
false
-0.004112
-0.012884
0.00466
0.97903
0.974918
chr19
45,266,275
C
G
+
112
62
119
exon
-7
exact
test
42
ENSE00000377990_012
ENSE00000377990
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCTGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
false
0.001433
-0.012137
0.015003
0.97903
0.980463
chr19
45,266,291
C
T
+
128
62
119
downstream_intron
10
exact
test
43
ENSE00000377990_014
ENSE00000377990
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACTCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
false
-0.053848
-0.1431
0.035403
0.97903
0.925181
chr19
45,266,295
C
T
+
132
62
119
downstream_intron
14
exact
test
44
ENSE00000377990_015
ENSE00000377990
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCTGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
false
0.01626
-0.002883
0.035403
0.97903
0.99529
chr19
45,266,296
C
T
+
133
62
119
downstream_intron
15
exact
test
45
ENSE00000377990_016
ENSE00000377990
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCACTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
false
-0.008876
-0.003155
-0.014597
0.97903
0.970154
chr19
45,266,297
G
A
+
134
62
119
downstream_intron
16
exact
test
46
ENSE00000377990_017
ENSE00000377990
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCTCGGCTCAGCCCACAGAC
false
0.020451
0.005498
0.035403
0.97903
0.999481
chr19
45,266,315
A
T
+
152
62
119
downstream_intron
34
exact
test
47
ENSE00000377990_018
ENSE00000377990
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACGGCTCAGCCCACAGAC
CCACTGAGGGAGGCTGAGGGTTTTGGGAGCCACAAATAACCAACCTTCCCCTTCCCTCCCAGATTGTTTCGGCTGTGCACTATTGTCACCAGAAAAATATTGTACACAGGGACCTGAAGGTAAGCCCCCGACCCGCTGTGATCTCAGGGACCACAGCTCAGCCCACAGAC
false
0.005249
-0.009631
0.020129
0.97903
0.984279
chr19
45,266,317
G
A
+
154
62
119
downstream_intron
36
exact
test
50
ENSE00000379229_001
ENSE00000379229
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTGCTAAGTATGGGATGAG
false
0.029414
-0.001562
0.060391
0.967973
0.997388
chrX
72,676,047
T
C
-
153
50
131
downstream_intron
23
exact
test
51
ENSE00000379229_002
ENSE00000379229
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTTTACTAAGTATGGGATGAG
false
0.028968
-0.000979
0.058916
0.967973
0.996942
chrX
72,676,049
C
A
-
151
50
131
downstream_intron
21
exact
test
52
ENSE00000379229_003
ENSE00000379229
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGCTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
false
0.013293
0.00328
0.023306
0.967973
0.981267
chrX
72,676,083
A
G
-
117
50
131
exon
-14
exact
test
53
ENSE00000379229_004
ENSE00000379229
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCTGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
false
0.031602
0.003662
0.059542
0.967973
0.999575
chrX
72,676,085
T
A
-
115
50
131
exon
-16
exact
test
54
ENSE00000379229_005
ENSE00000379229
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAAGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
false
0.016623
-0.000008
0.033255
0.967973
0.984597
chrX
72,676,111
C
T
-
89
50
131
exon
40
exact
test
55
ENSE00000379229_006
ENSE00000379229
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCACGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
false
0.032027
0.003662
0.060391
0.967973
1
chrX
72,676,112
T
G
-
88
50
131
exon
39
exact
test
56
ENSE00000379229_007
ENSE00000379229
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATGTGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
false
0.018456
-0.021884
0.058797
0.967973
0.98643
chrX
72,676,139
T
C
-
61
50
131
exon
12
exact
test
57
ENSE00000379229_008
ENSE00000379229
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTTGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
false
-0.01934
-0.013474
-0.025207
0.967973
0.948633
chrX
72,676,145
G
A
-
55
50
131
exon
6
exact
test
58
ENSE00000379229_009
ENSE00000379229
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTACTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
false
0.029967
0.000714
0.05922
0.967973
0.99794
chrX
72,676,161
A
G
-
39
50
131
upstream_intron
-11
exact
test
59
ENSE00000379229_011
ENSE00000379229
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
GTATTTAGTAGTTATGACTTGCTAATCGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
false
-0.008083
-0.076336
0.060171
0.967973
0.959891
chrX
72,676,174
A
G
-
26
50
131
upstream_intron
-24
exact
test
60
ENSE00000379229_012
ENSE00000379229
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
GTATTTAGTAGTTATGACTTGCTAACTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
false
0.032027
0.003662
0.060391
0.967973
1
chrX
72,676,175
A
G
-
25
50
131
upstream_intron
-25
exact
test
61
ENSE00000379229_014
ENSE00000379229
GTATTTAGTAGTTATGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
GTATTTAGTAGTTACGACTTGCTAATTGTATATTGGTTATTTTATGCCAGGACTTCGGGATATGGGAACGTGGAGACAAGACCAACCAAGGGATCTCAGAGTTGAATGCCAGTTCAGTTGGAATGGCAAAGGTAATTTTCCTTTCCTGTTTGTACTAAGTATGGGATGAG
false
0.031707
0.003023
0.060391
0.967973
0.99968
chrX
72,676,186
A
G
-
14
50
131
upstream_intron
-36
exact
test
64
ENSE00000379234_001
ENSE00000379234
CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTCTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCCATAACATGTAGCTGA
CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTCTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCTATAACATGTAGCTGA
false
0.030167
-0.0571
0.117434
0.936619
0.966785
chrX
72,653,418
G
A
-
154
42
138
downstream_intron
17
exact
test
65
ENSE00000379234_003
ENSE00000379234
CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTCTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCCATAACATGTAGCTGA
CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTCTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCCCTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCCATAACATGTAGCTGA
false
0.063208
0.008106
0.11831
0.936619
0.999827
chrX
72,653,471
T
G
-
101
42
138
exon
-37
exact
test
66
ENSE00000379234_005
ENSE00000379234
CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTCTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCCATAACATGTAGCTGA
CTCTCTGTAAGTCTTTTTTTCCTGCCTTTCTTTTATCTGCAGGTTCAAGAATATAAAGAGGCTGTTGAAGCAGTCCTCATCAAGGGCAAAAATGGAGTCCCACTTCTGCCAGAGCTGTACAGTGTTCCTCCTGACAGGGTGAGTCAGACAGTGCCATAACATGTAGCTGA
false
0.054561
-0.000942
0.110064
0.936619
0.99118
chrX
72,653,509
G
C
-
63
42
138
exon
22
exact
test
68
ENSE00000400053_001
ENSE00000400053
TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG
TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCAGGGAATTGCCCAGGGTATAGGGAG
false
-0.015677
-0.035283
0.003928
0.843303
0.827625
chr7
151,215,943
C
T
-
145
59
122
downstream_intron
24
exact
test
69
ENSE00000400053_002
ENSE00000400053
TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG
TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCTGGGGAATTGCCCAGGGTATAGGGAG
false
0.126781
0.073174
0.180389
0.843303
0.970084
chr7
151,215,944
G
A
-
144
59
122
downstream_intron
23
exact
test
70
ENSE00000400053_003
ENSE00000400053
TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG
TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTAGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG
false
-0.043303
-0.086647
0.000042
0.843303
0.8
chr7
151,215,956
C
T
-
132
59
122
downstream_intron
11
exact
test
71
ENSE00000400053_004
ENSE00000400053
TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG
TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGTCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG
false
0.128309
0.106577
0.150042
0.843303
0.971612
chr7
151,215,959
G
A
-
129
59
122
downstream_intron
8
exact
test
72
ENSE00000400053_008
ENSE00000400053
TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG
TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATGCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG
false
0.114244
0.073978
0.15451
0.843303
0.957547
chr7
151,216,006
G
C
-
82
59
122
exon
24
exact
test
73
ENSE00000400053_011
ENSE00000400053
TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG
TATGTTTCTAACTGGGCTTCCTTTGTCTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG
false
0.107288
0.069637
0.144939
0.843303
0.95059
chr7
151,216,062
A
G
-
26
59
122
upstream_intron
-33
exact
test
74
ENSE00000400053_012
ENSE00000400053
TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG
TATGTTTCTAACTGGGCTTGCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG
false
0.149711
0.110067
0.189355
0.843303
0.993014
chr7
151,216,069
G
C
-
19
59
122
upstream_intron
-40
exact
test
75
ENSE00000400053_013
ENSE00000400053
TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG
TATGTTTCTAACTGAGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG
false
0.151439
0.10725
0.195628
0.843303
0.994742
chr7
151,216,074
C
T
-
14
59
122
upstream_intron
-45
exact
test
76
ENSE00000400053_014
ENSE00000400053
TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG
TATGTTTCTAACTAGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG
false
0.13055
0.075259
0.18584
0.843303
0.973852
chr7
151,216,075
C
T
-
13
59
122
upstream_intron
-46
exact
test
77
ENSE00000400053_015
ENSE00000400053
TATGTTTCTAACTGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG
TATGTTTCTAAATGGGCTTCCTTTGTTTCATGCTTACGTTTCTACTTTTTTCTTCCTAGCTACTACCCACAGATGGCATGATCCGAAAACACTCTCATGTCAAGATAGGGCGTTACCATCAGGTACAGGCCTGGGGTTGGGATCCGGGGAATTGCCCAGGGTATAGGGAG
false
0.130323
0.084434
0.176213
0.843303
0.973626
chr7
151,216,077
G
T
-
11
59
122
upstream_intron
-48
exact
test
80
ENSE00000406138_001
ENSE00000406138
TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC
TGGGTTCAGAGGAGAAAAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC
false
0.033425
0.061624
0.005226
0.966221
0.999646
chr8
86,537,531
C
A
+
16
48
132
upstream_intron
-32
exact
test
81
ENSE00000406138_003
ENSE00000406138
TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC
TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGCAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC
false
0.032959
0.060691
0.005226
0.966221
0.999179
chr8
86,537,560
T
C
+
45
48
132
upstream_intron
-3
exact
test
82
ENSE00000406138_006
ENSE00000406138
TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC
TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACTCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC
false
0.033567
0.061907
0.005226
0.966221
0.999788
chr8
86,537,584
C
T
+
69
48
132
exon
22
exact
test
83
ENSE00000406138_007
ENSE00000406138
TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC
TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACGTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC
false
0.01019
0.019776
0.000604
0.966221
0.976411
chr8
86,537,590
C
G
+
75
48
132
exon
28
exact
test
84
ENSE00000406138_010
ENSE00000406138
TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC
TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGACGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC
false
0.032673
0.062332
0.003013
0.966221
0.998893
chr8
86,537,616
T
C
+
101
48
132
exon
-31
exact
test
85
ENSE00000406138_012
ENSE00000406138
TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC
TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCGTCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC
false
0.033779
0.062332
0.005226
0.966221
1
chr8
86,537,636
A
G
+
121
48
132
exon
-11
exact
test
86
ENSE00000406138_013
ENSE00000406138
TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC
TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATTGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC
false
0.008779
0.062332
-0.044774
0.966221
0.975
chr8
86,537,638
C
T
+
123
48
132
exon
-9
exact
test
87
ENSE00000406138_014
ENSE00000406138
TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCGGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC
TGGGTTCAGAGGAGAACAAATGCTTTTTGTTGTTTGTTTTAAATGTAGGATCTATTTGGAAAGTCAGACCCATACCTGGAATTCCACAAGCAGACATCTGATGGAAACTGGCTAATGGTTCATCAGACAGAGGTGAATATTTGAATTTGAAAAGCAGAGTGGAGGTGTTC
false
-0.039916
0.062332
-0.142164
0.966221
0.926305
chr8
86,537,639
G
A
+
124
48
132
exon
-8
exact
test
89
ENSE00000406871_001
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACGATCATAACTAATTCCTT
false
0.015246
0.014757
0.015735
0.926475
0.941721
chr17
28,585,303
G
C
-
152
44
137
downstream_intron
16
exact
test
90
ENSE00000406871_002
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGATCATCATAACTAATTCCTT
false
0.013581
0.011467
0.015695
0.926475
0.940056
chr17
28,585,304
G
A
-
151
44
137
downstream_intron
15
exact
test
91
ENSE00000406871_003
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGCGACCATCATAACTAATTCCTT
false
0.059266
0.051954
0.066578
0.926475
0.985741
chr17
28,585,307
C
G
-
148
44
137
downstream_intron
12
exact
test
92
ENSE00000406871_004
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATCTGGGACCATCATAACTAATTCCTT
null
null
null
null
0.926475
null
chr17
28,585,310
A
G
-
145
44
137
downstream_intron
9
exact
test
93
ENSE00000406871_005
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGTAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
true
-0.917749
-0.933832
-0.901667
0.926475
0.008726
chr17
28,585,327
G
A
-
128
44
137
exon
-9
exact
test
94
ENSE00000406871_006
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTAGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
true
-0.899329
-0.930759
-0.8679
0.926475
0.027146
chr17
28,585,338
C
T
-
117
44
137
exon
-20
exact
test
95
ENSE00000406871_007
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTAATTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
false
-0.128333
-0.13857
-0.118096
0.926475
0.798142
chr17
28,585,359
G
T
-
96
44
137
exon
-41
exact
test
96
ENSE00000406871_008
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTAGTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
false
-0.073351
-0.09728
-0.049422
0.926475
0.853124
chr17
28,585,359
G
C
-
96
44
137
exon
-41
exact
test
97
ENSE00000406871_009
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAATCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
false
0.048706
0.040303
0.057109
0.926475
0.975182
chr17
28,585,365
C
T
-
90
44
137
exon
-47
exact
test
98
ENSE00000406871_010
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACCGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
false
0.051959
0.032684
0.071234
0.926475
0.978434
chr17
28,585,370
T
G
-
85
44
137
exon
42
exact
test
99
ENSE00000406871_011
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCATCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
false
0.016345
-0.000616
0.033305
0.926475
0.94282
chr17
28,585,376
C
A
-
79
44
137
exon
36
exact
test
100
ENSE00000406871_012
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTGAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
false
-0.001167
0.01111
-0.013443
0.926475
0.925309
chr17
28,585,378
G
C
-
77
44
137
exon
34
exact
test
101
ENSE00000406871_013
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTAGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
true
-0.879929
-0.871585
-0.888274
0.926475
0.046546
chr17
28,585,382
C
T
-
73
44
137
exon
30
exact
test
102
ENSE00000406871_014
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGAAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
false
0.070456
0.058619
0.082293
0.926475
0.996931
chr17
28,585,393
G
T
-
62
44
137
exon
19
exact
test
103
ENSE00000406871_015
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCACGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
false
-0.005525
0.011828
-0.022879
0.926475
0.92095
chr17
28,585,395
T
G
-
60
44
137
exon
17
exact
test
104
ENSE00000406871_016
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATACCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
false
0.022306
-0.002607
0.04722
0.926475
0.948782
chr17
28,585,399
C
T
-
56
44
137
exon
13
exact
test
105
ENSE00000406871_017
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGTCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
false
0.073525
0.064757
0.082293
0.926475
1
chr17
28,585,406
C
A
-
49
44
137
exon
6
exact
test
106
ENSE00000406871_018
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTTTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
false
0.025838
0.014757
0.03692
0.926475
0.952314
chr17
28,585,415
C
A
-
40
44
137
upstream_intron
-4
exact
test
107
ENSE00000406871_019
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTCGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
false
-0.125931
-0.134155
-0.117707
0.926475
0.800544
chr17
28,585,416
A
G
-
39
44
137
upstream_intron
-5
exact
test
108
ENSE00000406871_021
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAGTCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
true
-0.919808
-0.92265
-0.916965
0.926475
0.006668
chr17
28,585,426
T
C
-
29
44
137
upstream_intron
-15
exact
test
109
ENSE00000406871_022
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCCGCGTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
false
-0.105973
-0.094239
-0.117707
0.926475
0.820502
chr17
28,585,433
G
C
-
22
44
137
upstream_intron
-22
exact
test
110
ENSE00000406871_024
ENSE00000406871
TCCAAAGGGAAGGGGTTCCCGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
TCCAAAGGGAAGGGGTTCCTGCCTAGGCAATCTTTCTTTTGTAGGTAGGGCTTCATGCCAAGCAAGAAGAGCTGGTTCAGCAGACAGTGAGTCTTACTTCTACCTTGCAACAAGACTGGAGGTCCATGCAACTGGATGTGAGTATTTGGGACCATCATAACTAATTCCTT
false
0.041206
0.023916
0.058496
0.926475
0.967682
chr17
28,585,436
G
A
-
19
44
137
upstream_intron
-25
exact
test
113
ENSE00000411843_001
ENSE00000411843
TTGACATTCATTGTTACAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA
TTGACATTCATTGTTGCAGAAGGAATTTCTTCCTGTTTCTTATTCCTTTAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGGTACGTCAAAAAGATGAGGCCTATTATGTATGCAAAAAAAA
false
0.026201
0.027418
0.024984
0.971996
0.998197
chr2
210,592,843
A
G
+
15
51
129
upstream_intron
-36
exact
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MFASS Splicing Variant Effects

This dataset packages 28,972 single-nucleotide variants from the Multiplexed Functional Assay of Splicing (MFASS) as one compact benchmark table.

Each row contains the exact 170 bp transcript-oriented assay sequence pair, native exon-inclusion measurements, assay-relative geometry, and canonical GRCh38 locus. Of the 28,972 rows, 27,733 are evaluable and 1,050 are labeled splice-disrupting variants.

Row identity: pair_id is the unique row key. sequence is deliberately not unique: different tested variants in the same exon share the same reference construct. The table contains 2,199 distinct reference sequence values. Never deduplicate these rows by sequence.

Loading

from datasets import load_dataset

dataset = load_dataset("Taykhoom/mfass", split="test")

The Hugging Face split and the first row-level column, split, are both test for consistency with DART-Eval datasets that also contain train rows.

Sequence and target contract

sequence carries the canonical hg38 reference allele and alt_sequence carries the alternate allele. Both are the exact 170 bp constructs represented in transcript orientation; therefore, on strand == "-", the base in the sequence is the complement of the forward-genome ref or alt.

One source variant has a genuine hg19-to-hg38 reference swap. Its sequence order, inclusion measurements, and signed effects are reversed here so every row consistently means hg38 reference to alternate. Missing measurements and labels remain null.

The splice-disrupting-variant label is:

ΔPSI0.50 \Delta\mathrm{PSI} \le -0.50

where delta_psi is alternate minus reference exon inclusion.

Columns

Column Description
split Dataset partition. Always test; retained for DART-Eval schema consistency.
source_index Zero-based row index in the pinned canonical MFASS source table.
pair_id Stable unique identifier for the tested variant pair.
component_id Ensembl exon identifier; use for grouped splits or bootstrap resampling.
sequence Exact 170 bp transcript-oriented assay construct carrying the canonical hg38 reference allele.
alt_sequence Matched 170 bp construct carrying the canonical hg38 alternate allele.
label Nullable splice-disrupting label: delta_psi <= -0.50.
delta_psi Alternate minus reference exon inclusion; the main quantitative target.
delta_psi_rep1 Replicate-1 alternate-minus-reference effect.
delta_psi_rep2 Replicate-2 alternate-minus-reference effect.
ref_inclusion Exon inclusion measured for sequence.
alt_inclusion Exon inclusion measured for alt_sequence.
chrom GRCh38 chromosome using UCSC chr names.
position 1-based GRCh38 SNV position.
ref Forward-genome GRCh38 reference allele.
alt Forward-genome alternate allele.
strand Corrected transcript orientation relative to GRCh38.
variant_offset Zero-based focal-variant index within both 170 bp sequences.
exon_start Zero-based exon start within the assay construct.
exon_end Exclusive exon end within the assay construct.
region Variant location: upstream_intron, exon, or downstream_intron.
splice_site_offset Signed transcript-oriented offset from the relevant splice boundary. Upstream intron values are negative, downstream intron values are positive, and exonic values point inward from the nearest boundary.
assay_hg38_alignment Whole-construct relation to the lifted GRCh38 interval: exact, substitution, or insertion.

Genomic context

No arbitrary fixed genomic window is stored. Use chrom, 1-based position, ref, and alt to extract whatever context length a model requires from the pinned GRCh38 no-alt assembly GCA_000001405.15.

The complete lifted assay interval was validated against each construct. Across 2,198 exons, 2,195 match exactly, two contain one assembly substitution, and one contains one additional GRCh38 base. This becomes 28,930 exact, 32 substitution, and 10 insertion variant rows.

Published baseline reproduction

Method Rows AUROC Average precision
Pangolin 27,733 0.8882 0.4208
SpliceAI 27,733 0.8193 0.3208
SpliceTransformer 27,733 0.7857 0.3174
MMSplice 27,733 0.7582 0.2558
SPANR 27,663 0.7479 0.2279

The exhaustive source, score, and alignment provenance is intentionally omitted from Hugging Face. Stable processing documentation and the internal reproducibility manifest are available at:

The Hugging Face repository is intentionally limited to this card and the compact Parquet. The 92-column full table, 8-column metrics table, root manifest, and processing code remain in the processing repository.

Limitations

  • This release starts from the authors' processed MFASS table; it does not reproduce raw-read processing.
  • Published baseline scores are verified and re-evaluated, not regenerated by rerunning the five models.
  • The assay strings are synthetic transcript-oriented minigene constructs, not arbitrary forward-genome windows. Two exons contain one assembly substitution and one exon contains one additional GRCh38 base.
  • Labels and dPSI are null for 1,239 rows. SPANR has 70 additional missing scores among otherwise evaluable rows.

Sources and citation

Rockie Chong et al. A multiplexed assay for exon recognition reveals that an unappreciated fraction of rare genetic variants cause large-effect splicing disruptions. Molecular Cell 73, 183-194.e8 (2019). https://doi.org/10.1016/j.molcel.2018.10.037

Published baseline scores:

https://github.com/brhanufen/spliceconsensus

License

Artifact-level license status is NOASSERTION; the license: other metadata does not grant a new license. The pinned MFASS repository and GEO record do not state explicit redistribution terms for the processed measurements. Users must review the original MFASS, SpliceConsensus/source-model, NCBI reference, and publication terms. See the processing NOTICE.md for authoritative links.

Permission for third-party redistribution of the processed MFASS measurements and derivatives in this repackaged form remains unresolved; obtain clarification or permission from the MFASS rights holders before redistribution.

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