variant_id
string
protein_id
string
pos1
int32
wt_aa
string
mut_aa
string
seq_len
int32
GeneSymbol
string
VariationID
int64
label
int8
split
string
source
string
stars
float32
cluster
string
mut_seq_override
string
NP_079408.3_A914D
NP_079408.3
914
A
D
1,342
WDR19
974,371
1
test
existing
1
NP_079408.3
null
NP_005984.3_G842R
NP_005984.3
842
G
R
1,192
TBCD
2,356,642
0
test
existing
2
NP_005984.3
null
NP_056374.2_T1010I
NP_056374.2
1,010
T
I
1,596
SETBP1
1,432,713
0
test
existing
1
NP_056374.2
null
NP_056089.1_R28Q
NP_056089.1
28
R
Q
1,009
MAN2B2
2,336,220
0
test
existing
1
NP_056089.1
null
NP_060956.1_S199T
NP_060956.1
199
S
T
377
HDAC8
372,994
1
test
existing
1
NP_060956.1
null
NP_075462.3_V422I
NP_075462.3
422
V
I
605
DNAI2
1,145,347
0
test
existing
1
NP_075462.3
null
NP_000525.1_E537K
NP_000525.1
537
E
K
932
PMS1
135,055
0
test
existing
2
NP_000525.1
null
NP_006010.2_G410R
NP_006010.2
410
G
R
830
TCIRG1
3,769,171
1
test
existing
1
NP_001365459.1
null
NP_000242.1_T807S
NP_000242.1
807
T
S
934
null
null
0
test
existing
null
NP_001393582.1
null
NP_001008537.1_N934S
NP_001008537.1
934
N
S
1,516
NEXMIF
474,066
0
test
existing
2
NP_001008537.1
null
NP_056375.2_H20Y
NP_056375.2
20
H
Y
960
OPA1
2,176,959
0
test
existing
1
NP_056375.2
null
NP_037471.2_G222D
NP_037471.2
222
G
D
507
ALG6
739,743
0
test
existing
1
NP_037471.2
null
NP_057616.2_S57A
NP_057616.2
57
S
A
448
INPP5K
746,037
0
test
existing
2
NP_057616.2
null
NP_742105.1_P285S
NP_742105.1
285
P
S
872
KCNQ2
975,869
1
test
existing
2
NP_001191753.1
null
NP_001005463.1_V219A
NP_001005463.1
219
V
A
551
EBF3
976,694
1
test
existing
1
NP_001005463.1
null
NP_004637.1_E45K
NP_004637.1
45
E
K
1,241
null
null
0
test
existing
null
NP_004637.1
null
NP_056512.5_Y297C
NP_056512.5
297
Y
C
421
COQ2
1,436
1
test
existing
1
NP_056512.5
null
NP_000242.1_L478R
NP_000242.1
478
L
R
934
MSH2
1,772,564
1
test
existing
2
NP_001393582.1
null
NP_000251.3_S1471P
NP_000251.3
1,471
S
P
2,215
MYO7A
43,239
1
test
existing
2
NP_000251.3
null
NP_056999.2_H258R
NP_056999.2
258
H
R
558
ATL1
4,348
1
test
existing
2
NP_056274.3
null
NP_006507.2_R92W
NP_006507.2
92
R
W
492
SLC2A1
16,119
1
test
existing
2
NP_001315549.1
null
NP_001008537.1_S1167G
NP_001008537.1
1,167
S
G
1,516
NEXMIF
2,190,668
0
test
existing
1
NP_001008537.1
null
NP_742105.1_G574S
NP_742105.1
574
G
S
872
KCNQ2
1,022,468
1
test
existing
2
NP_001191753.1
null
NP_001369746.2_G255S
NP_001369746.2
255
G
S
476
null
null
0
test
existing
null
NP_001369746.2
null
NP_115763.2_Q742E
NP_115763.2
742
Q
E
1,243
WNK4
718,799
0
test
existing
2
NP_115763.2
null
NP_056999.2_L157S
NP_056999.2
157
L
S
558
ATL1
989,013
1
test
existing
1
NP_056274.3
null
NP_001289.1_E198K
NP_001289.1
198
E
K
694
CNGA3
377,069
0
test
existing
2
NP_001032406.1
null
NP_060798.2_K312N
NP_060798.2
312
K
N
1,494
MBD5
653,969
0
test
existing
1
NP_060798.2
null
NP_000801.1_Y244H
NP_000801.1
244
Y
H
462
GABRA5
2,430,088
0
test
existing
1
NP_068712.1
null
NP_003009.2_L55F
NP_003009.2
55
L
F
197
SFTPC
598,978
1
test
existing
2
NP_003009.2
null
NP_000243.1_V49F
NP_000243.1
49
V
F
603
MTM1
158,940
1
test
existing
1
NP_056273.2
null
NP_000242.1_P652H
NP_000242.1
652
P
H
934
MSH2
90,823
1
test
existing
3
NP_001393582.1
null
NP_001840.3_D955N
NP_001840.3
955
D
N
1,019
null
null
0
test
existing
null
NP_001840.3
null
NP_000797.2_M263T
NP_000797.2
263
M
T
456
GABRA1
2,136,351
1
test
existing
1
NP_068712.1
null
NP_690870.3_R26K
NP_690870.3
26
R
K
276
TANGO2
378,699
1
test
existing
1
NP_690870.3
null
NP_000242.1_L312P
NP_000242.1
312
L
P
934
null
null
0
test
existing
null
NP_001393582.1
null
NP_001866.2_R587H
NP_001866.2
587
R
H
1,500
CPS1
549,934
1
test
existing
2
NP_001866.2
null
NP_742105.1_A306P
NP_742105.1
306
A
P
872
KCNQ2
205,888
1
test
existing
2
NP_001191753.1
null
NP_000078.3_M647T
NP_000078.3
647
M
T
686
CNGA1
2,186,749
0
test
existing
1
NP_001032406.1
null
NP_001019242.1_L92I
NP_001019242.1
92
L
I
213
null
null
1
test
existing
null
NP_001019242.1
null
NP_000035.2_A141T
NP_000035.2
141
A
T
920
AR
434,258
0
test
existing
1
NP_000035.2
null
NP_002290.2_R1455C
NP_002290.2
1,455
R
C
1,927
LCT
982,558
1
test
existing
1
NP_002290.2
null
NP_060552.4_A760T
NP_060552.4
760
A
T
1,133
null
null
1
test
existing
null
NP_060552.4
null
NP_006507.2_T295M
NP_006507.2
295
T
M
492
SLC2A1
207,229
1
test
existing
2
NP_001315549.1
null
NP_001123617.1_P278S
NP_001123617.1
278
P
S
504
YAP1
802,714
0
test
existing
2
NP_001123617.1
null
NP_055496.2_P86S
NP_055496.2
86
P
S
1,143
null
null
0
test
existing
null
NP_055496.2
null
NP_000268.1_V190A
NP_000268.1
190
V
A
452
PAH
102,740
1
test
existing
2
NP_004170.1
null
NP_056374.2_R918Q
NP_056374.2
918
R
Q
1,596
null
null
0
test
existing
null
NP_056374.2
null
NP_338599.1_H124D
NP_338599.1
124
H
D
314
TREX1
429,418
1
test
existing
1
NP_338599.1
null
NP_000052.1_V335D
NP_000052.1
335
V
D
659
BTK
619,022
1
test
existing
1
NP_005537.3
null
NP_000035.2_A766D
NP_000035.2
766
A
D
920
AR
419,720
1
test
existing
1
NP_000035.2
null
NP_008825.4_R387H
NP_008825.4
387
R
H
532
null
null
1
test
existing
null
NP_008825.4
null
NP_001305781.1_E462G
NP_001305781.1
462
E
G
1,337
MAPK8IP3
916,591
1
test
existing
2
NP_001124000.1
null
NP_002769.1_L6F
NP_002769.1
6
L
F
524
PSAP
791,718
0
test
existing
2
NP_001078851.1
null
NP_783328.1_G543S
NP_783328.1
543
G
S
912
DNMT3A
2,431,485
1
test
existing
1
NP_001307822.1
null
NP_001278.1_R526W
NP_001278.1
526
R
W
805
CLCN7
1,453,929
1
test
existing
2
NP_001821.2
null
NP_058648.4_P351A
NP_058648.4
351
P
A
1,264
CDON
260,781
0
test
existing
2
NP_001374848.1
null
NP_000268.1_A345S
NP_000268.1
345
A
S
452
PAH
102,484
1
test
existing
3
NP_004170.1
null
NP_002046.1_L264P
NP_002046.1
264
L
P
432
GFAP
190,346
1
test
existing
1
NP_116116.1
null
NP_003592.3_A56S
NP_003592.3
56
A
S
1,052
SMARCA5
2,409,961
0
test
existing
1
NP_003592.3
null
NP_783328.1_G298W
NP_783328.1
298
G
W
912
DNMT3A
208,714
1
test
existing
1
NP_001307822.1
null
NP_938012.2_K438M
NP_938012.2
438
K
M
560
LMOD3
475,302
0
test
existing
2
NP_997046.1
null
NP_078875.4_V11M
NP_078875.4
11
V
M
856
null
null
0
test
existing
null
NP_071895.3
null
NP_001129277.1_V420A
NP_001129277.1
420
V
A
422
SYT1
2,366,135
0
test
existing
1
NP_001277261.2
null
NP_001222.3_H72R
NP_001222.3
72
H
R
396
CASQ1
788,843
0
test
existing
2
NP_001222.3
null
NP_001308943.1_K815R
NP_001308943.1
815
K
R
873
null
null
0
test
existing
null
NP_001308943.1
null
NP_001003800.1_A326S
NP_001003800.1
326
A
S
855
BICD2
1,439,785
0
test
existing
1
NP_001003800.1
null
NP_055151.3_A128V
NP_055151.3
128
A
V
384
null
null
0
test
existing
null
NP_055151.3
null
NP_742105.1_S314P
NP_742105.1
314
S
P
872
KCNQ2
421,323
1
test
existing
1
NP_001191753.1
null
NP_000491.4_P31L
NP_000491.4
31
P
L
495
CYP21A2
12,153
1
test
existing
2
NP_000763.1
null
NP_056374.2_K368E
NP_056374.2
368
K
E
1,596
SETBP1
2,014,908
0
test
existing
1
NP_056374.2
null
NP_000251.3_E1510K
NP_000251.3
1,510
E
K
2,215
MYO7A
1,799,550
1
test
existing
1
NP_000251.3
null
NP_001182399.1_E407Q
NP_001182399.1
407
E
Q
795
SATB1
1,050,816
1
test
existing
2
NP_056080.1
null
NP_004966.1_A819T
NP_004966.1
819
A
T
858
KCNB1
833,994
0
test
existing
1
NP_004966.1
null
NP_001123617.1_N452D
NP_001123617.1
452
N
D
504
YAP1
722,492
0
test
existing
1
NP_001123617.1
null
NP_060798.2_R1439C
NP_060798.2
1,439
R
C
1,494
MBD5
833,973
0
test
existing
1
NP_060798.2
null
NP_000178.2_P274L
NP_000178.2
274
P
L
445
HGD
1,495,077
1
test
existing
1
NP_000178.2
null
NP_690870.3_D245E
NP_690870.3
245
D
E
276
TANGO2
781,599
0
test
existing
2
NP_690870.3
null
NP_001121370.1_I266V
NP_001121370.1
266
I
V
816
CLCN5
1,086,253
0
test
existing
2
NP_001821.2
null
NP_064716.2_K412N
NP_064716.2
412
K
N
578
null
null
0
test
existing
null
NP_064716.2
null
NP_000425.1_R347Q
NP_000425.1
347
R
Q
415
NEU1
946,980
1
test
existing
1
NP_000425.1
null
NP_000527.2_N173S
NP_000527.2
173
N
S
527
null
null
1
test
existing
null
NP_000527.2
null
NP_004954.2_F281L
NP_004954.2
281
F
L
1,073
GUCY2C
1,170,460
0
test
existing
2
NP_003986.2
null
NP_056999.2_V40F
NP_056999.2
40
V
F
558
ATL1
989,012
1
test
existing
1
NP_056274.3
null
NP_002290.2_S101G
NP_002290.2
101
S
G
1,927
LCT
708,530
0
test
existing
2
NP_002290.2
null
NP_003051.1_S38C
NP_003051.1
38
S
C
557
SLC22A5
1,911,614
1
test
existing
1
NP_003050.2
null
NP_000483.3_L69R
NP_000483.3
69
L
R
1,480
CFTR
1,706,067
1
test
existing
1
NP_005836.2
null
NP_003212.2_A275D
NP_003212.2
275
A
D
460
TFAP2B
8,039
1
test
existing
1
NP_003212.2
null
NP_001003800.1_R566H
NP_001003800.1
566
R
H
855
BICD2
1,057,994
0
test
existing
1
NP_001003800.1
null
NP_001289.1_G572D
NP_001289.1
572
G
D
694
CNGA3
1,995,478
1
test
existing
1
NP_001032406.1
null
NP_000251.3_G1298E
NP_000251.3
1,298
G
E
2,215
null
null
1
test
existing
null
NP_000251.3
null
NP_004966.1_A621S
NP_004966.1
621
A
S
858
KCNB1
708,213
0
test
existing
2
NP_004966.1
null
NP_003150.1_G20D
NP_003150.1
20
G
D
1,030
CDKL5
189,548
1
test
existing
2
NP_001310218.1
null
NP_115763.2_T16I
NP_115763.2
16
T
I
1,243
WNK4
323,311
0
test
existing
2
NP_115763.2
null
NP_060956.1_N256I
NP_060956.1
256
N
I
377
HDAC8
2,022,838
0
test
existing
1
NP_060956.1
null
NP_000052.1_R544S
NP_000052.1
544
R
S
659
BTK
2,138,644
1
test
existing
1
NP_005537.3
null
NP_114432.2_L195P
NP_114432.2
195
L
P
1,249
BRIP1
128,193
0
test
existing
2
NP_114432.2
null
NP_000594.2_A174T
NP_000594.2
174
A
T
1,203
NOS3
739,664
0
test
existing
1
NP_000594.2
null
NP_000391.1_D312N
NP_000391.1
312
D
N
760
ERCC2
134,117
0
test
existing
2
NP_000391.1
null
NP_000435.3_A573P
NP_000435.3
573
A
P
749
PHEX
379,848
1
test
existing
1
NP_009220.2
null