VARIANTKEY
stringlengths
10
16
LABEL
stringclasses
3 values
ENSG
stringlengths
15
15
GENE_SYMBOL
stringlengths
2
10
AA_POSITION
int64
2
36k
PROTEIN_REF
stringclasses
20 values
PROTEIN_ALT
stringclasses
20 values
1-100196274-A-C
LOF
ENSG00000137992
DBT
477
M
R
1-100196286-T-C
NEUTRAL
ENSG00000137992
DBT
473
N
S
1-100196349-T-C
LOF
ENSG00000137992
DBT
452
H
R
1-100206470-G-A
LOF
ENSG00000137992
DBT
395
T
I
1-100206621-C-T
LOF
ENSG00000137992
DBT
345
G
R
1-100214817-C-G
LOF
ENSG00000137992
DBT
313
K
N
1-100214854-C-T
LOF
ENSG00000137992
DBT
301
R
H
1-100214855-G-A
LOF
ENSG00000137992
DBT
301
R
C
1-100214884-C-A
LOF
ENSG00000137992
DBT
291
R
L
1-100214929-A-C
LOF
ENSG00000137992
DBT
276
F
C
1-100216040-T-C
NEUTRAL
ENSG00000137992
DBT
239
I
V
1-100230765-G-A
LOF
ENSG00000137992
DBT
134
P
L
1-100230855-T-C
LOF
ENSG00000137992
DBT
104
D
G
1-100230872-G-C
LOF
ENSG00000137992
DBT
98
I
M
1-100230914-C-A
LOF
ENSG00000137992
DBT
84
W
C
1-100240860-A-G
NEUTRAL
ENSG00000137992
DBT
26
C
R
1-100240874-C-T
NEUTRAL
ENSG00000137992
DBT
21
R
H
1-100249784-T-C
NEUTRAL
ENSG00000137992
DBT
13
N
D
1-1020239-G-C
NEUTRAL
ENSG00000188157
AGRN
23
V
L
1-1020297-A-C
NEUTRAL
ENSG00000188157
AGRN
42
E
A
1-1022225-G-A
LOF
ENSG00000188157
AGRN
76
G
S
1-1022313-A-T
LOF
ENSG00000188157
AGRN
105
N
I
1-10258602-A-T
LOF
ENSG00000054523
KIF1B
98
Q
L
1-102879759-C-T
NEUTRAL
ENSG00000060718
COL11A1
1,733
R
H
1-102888579-G-C
NEUTRAL
ENSG00000060718
COL11A1
1,536
P
A
1-102888620-C-A
LOF
ENSG00000060718
COL11A1
1,522
G
V
1-102889503-G-T
NEUTRAL
ENSG00000060718
COL11A1
1,472
D
E
1-102914362-G-A
NEUTRAL
ENSG00000060718
COL11A1
1,323
P
L
1-102921528-T-C
NEUTRAL
ENSG00000060718
COL11A1
1,233
N
S
1-102923343-C-T
LOF
ENSG00000060718
COL11A1
1,216
G
D
1-102940407-C-T
NEUTRAL
ENSG00000060718
COL11A1
1,102
G
R
1-10295760-G-A
NEUTRAL
ENSG00000054523
KIF1B
591
G
R
1-102961919-C-T
LOF
ENSG00000060718
COL11A1
1,039
G
S
1-102962705-C-T
LOF
ENSG00000060718
COL11A1
991
G
D
1-102962756-G-T
NEUTRAL
ENSG00000060718
COL11A1
974
P
Q
1-10296902-C-T
NEUTRAL
ENSG00000054523
KIF1B
623
R
C
1-10297018-T-A
NEUTRAL
ENSG00000054523
KIF1B
661
F
L
1-102974846-C-T
LOF
ENSG00000060718
COL11A1
931
G
E
1-102979414-A-T
NEUTRAL
ENSG00000060718
COL11A1
860
F
I
1-102989543-C-T
LOF
ENSG00000060718
COL11A1
790
G
D
1-102989562-C-G
LOF
ENSG00000060718
COL11A1
784
G
R
1-102996039-G-A
NEUTRAL
ENSG00000060718
COL11A1
749
P
S
1-103004633-C-A
LOF
ENSG00000060718
COL11A1
625
G
V
1-103014521-T-C
NEUTRAL
ENSG00000060718
COL11A1
521
Q
R
1-103014561-T-C
NEUTRAL
ENSG00000060718
COL11A1
508
T
A
1-103025546-G-A
NEUTRAL
ENSG00000060718
COL11A1
322
P
L
1-103082940-A-T
NEUTRAL
ENSG00000060718
COL11A1
47
F
I
1-103082941-A-C
NEUTRAL
ENSG00000060718
COL11A1
46
D
E
1-103082949-C-T
NEUTRAL
ENSG00000060718
COL11A1
44
A
T
1-103108127-T-A
NEUTRAL
ENSG00000060718
COL11A1
18
T
S
1-10321744-T-C
NEUTRAL
ENSG00000054523
KIF1B
749
W
R
1-10321829-A-G
NEUTRAL
ENSG00000054523
KIF1B
777
N
S
1-10324771-T-A
NEUTRAL
ENSG00000054523
KIF1B
851
L
M
1-10324813-A-C
NEUTRAL
ENSG00000054523
KIF1B
865
S
R
1-10324838-C-T
NEUTRAL
ENSG00000054523
KIF1B
873
T
I
1-10324883-A-G
NEUTRAL
ENSG00000054523
KIF1B
888
K
R
1-10337189-G-A
NEUTRAL
ENSG00000054523
KIF1B
1,082
R
Q
1-10337438-C-A
NEUTRAL
ENSG00000054523
KIF1B
1,109
N
K
1-10337509-A-G
NEUTRAL
ENSG00000054523
KIF1B
1,133
Y
C
1-10343234-C-T
NEUTRAL
ENSG00000054523
KIF1B
1,212
P
L
1-1035307-C-T
NEUTRAL
ENSG00000188157
AGRN
165
P
L
1-10361732-T-C
NEUTRAL
ENSG00000054523
KIF1B
1,404
V
A
1-10365418-A-C
NEUTRAL
ENSG00000054523
KIF1B
1,508
T
P
1-10365476-G-A
LOF
ENSG00000054523
KIF1B
1,527
S
N
1-10374389-G-A
NEUTRAL
ENSG00000054523
KIF1B
1,674
E
K
1-10376568-C-T
NEUTRAL
ENSG00000054523
KIF1B
1,811
P
L
1-1041197-T-C
NEUTRAL
ENSG00000188157
AGRN
251
V
A
1-1041218-C-T
NEUTRAL
ENSG00000188157
AGRN
258
T
I
1-1041245-C-T
NEUTRAL
ENSG00000188157
AGRN
267
T
M
1-1041583-A-G
NEUTRAL
ENSG00000188157
AGRN
353
Q
R
1-1041648-G-T
NEUTRAL
ENSG00000188157
AGRN
375
A
S
1-1041976-C-T
NEUTRAL
ENSG00000188157
AGRN
400
R
W
1-1042016-G-A
NEUTRAL
ENSG00000188157
AGRN
413
R
H
1-1043248-C-T
NEUTRAL
ENSG00000188157
AGRN
465
P
L
1-1043382-G-A
NEUTRAL
ENSG00000188157
AGRN
510
G
S
1-1043421-G-A
NEUTRAL
ENSG00000188157
AGRN
523
G
R
1-1043440-C-T
NEUTRAL
ENSG00000188157
AGRN
529
A
V
1-1043594-G-A
NEUTRAL
ENSG00000188157
AGRN
554
V
M
1-1044017-G-A
NEUTRAL
ENSG00000188157
AGRN
665
E
K
1-1044340-G-A
NEUTRAL
ENSG00000188157
AGRN
719
G
S
1-1044368-A-T
NEUTRAL
ENSG00000188157
AGRN
728
E
V
1-1045172-G-A
NEUTRAL
ENSG00000188157
AGRN
756
A
T
1-1045488-G-A
NEUTRAL
ENSG00000188157
AGRN
834
R
Q
1-1045751-A-G
NEUTRAL
ENSG00000188157
AGRN
852
Q
R
1-1045759-G-A
NEUTRAL
ENSG00000188157
AGRN
855
V
M
1-1045973-C-T
NEUTRAL
ENSG00000188157
AGRN
897
A
V
1-1046478-C-T
NEUTRAL
ENSG00000188157
AGRN
998
P
L
1-1046833-G-C
NEUTRAL
ENSG00000188157
AGRN
1,088
L
F
1-1046922-C-A
NEUTRAL
ENSG00000188157
AGRN
1,118
T
K
1-1047589-G-A
NEUTRAL
ENSG00000188157
AGRN
1,178
R
Q
1-1048126-C-T
NEUTRAL
ENSG00000188157
AGRN
1,289
P
L
1-1048224-C-T
NEUTRAL
ENSG00000188157
AGRN
1,322
R
W
1-1048281-G-A
NEUTRAL
ENSG00000188157
AGRN
1,341
G
R
1-1048315-G-A
NEUTRAL
ENSG00000188157
AGRN
1,352
G
D
1-1048333-C-T
NEUTRAL
ENSG00000188157
AGRN
1,358
P
L
1-1048900-G-A
NEUTRAL
ENSG00000188157
AGRN
1,380
R
H
1-1049289-C-T
NEUTRAL
ENSG00000188157
AGRN
1,451
P
L
1-1049690-G-A
NEUTRAL
ENSG00000188157
AGRN
1,547
E
K
1-1049746-G-C
NEUTRAL
ENSG00000188157
AGRN
1,565
Q
H
1-1050319-C-T
NEUTRAL
ENSG00000188157
AGRN
1,656
R
W