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_006525.2_P559S
NP_006525.2
559
P
S
1,420
NCOA3
775,436
0
test
existing
2
NP_003734.3
null
NP_653213.6_G881R
NP_653213.6
881
G
R
2,211
LOXHD1
1,875,098
1
test
existing
2
NP_653213.6
null
NP_064551.3_G180V
NP_064551.3
180
G
V
725
MCCC1
1,458,456
1
test
existing
2
NP_001280202.1
null
NP_000268.1_E78K
NP_000268.1
78
E
K
452
PAH
102,636
1
test
existing
3
NP_004170.1
null
NP_000073.1_D266A
NP_000073.1
266
D
A
396
ERCC8
973,767
1
test
existing
1
NP_000073.1
null
NP_057240.3_R586Q
NP_057240.3
586
R
Q
643
MTMR2
543,468
0
test
existing
2
NP_056273.2
null
NP_000391.1_R666W
NP_000391.1
666
R
W
760
ERCC2
1,415,975
1
test
existing
2
NP_000391.1
null
NP_056303.3_G89R
NP_056303.3
89
G
R
385
PNKD
334,310
0
test
existing
2
NP_056303.3
null
NP_000797.2_E446G
NP_000797.2
446
E
G
456
GABRA1
833,667
0
test
existing
1
NP_068712.1
null
NP_006454.1_T313I
NP_006454.1
313
T
I
424
STAMBP
420,170
1
test
existing
1
NP_006454.1
null
NP_078941.2_G237D
NP_078941.2
237
G
D
514
TBL1XR1
917,885
1
test
existing
1
NP_078941.2
null
NP_003602.1_M159T
NP_003602.1
159
M
T
1,012
OFD1
702,488
0
test
existing
2
NP_003602.1
null
NP_000381.1_N601S
NP_000381.1
601
N
S
653
CHM
698,222
0
test
existing
2
NP_001368782.1
null
NP_001153605.1_P782L
NP_001153605.1
782
P
L
951
KCNQ5
2,179,950
0
test
existing
2
NP_001153605.1
null
NP_000414.2_V634M
NP_000414.2
634
V
M
639
null
null
0
test
existing
null
NP_004684.2
null
NP_002046.1_E69K
NP_002046.1
69
E
K
432
GFAP
190,333
1
test
existing
2
NP_116116.1
null
NP_000424.2_V297A
NP_000424.2
297
V
A
526
NCF2
281,319
0
test
existing
2
NP_006638.1
null
NP_056374.2_K460R
NP_056374.2
460
K
R
1,596
SETBP1
2,158,653
0
test
existing
1
NP_056374.2
null
NP_004251.4_P793L
NP_004251.4
793
P
L
1,208
RECQL4
1,178,690
0
test
existing
1
NP_004251.4
null
NP_071445.1_A660G
NP_071445.1
660
A
G
1,040
null
null
0
test
existing
null
NP_006083.1
null
NP_001369746.2_L235R
NP_001369746.2
235
L
R
476
null
null
0
test
existing
null
NP_001369746.2
null
NP_001035197.1_S727N
NP_001035197.1
727
S
N
1,453
null
null
0
test
existing
null
NP_001035197.1
null
NP_068761.4_P1031R
NP_068761.4
1,031
P
R
1,133
TRAPPC11
448,698
0
test
existing
2
NP_951008.1
null
NP_476429.2_R375G
NP_476429.2
375
R
G
628
KRT3
1,665,660
0
test
existing
2
NP_004684.2
null
NP_000797.2_R214H
NP_000797.2
214
R
H
456
GABRA1
265,162
1
test
existing
2
NP_068712.1
null
NP_001017995.1_S883G
NP_001017995.1
883
S
G
911
SH3PXD2B
743,206
0
test
existing
2
NP_001017995.1
null
NP_000534.3_Y369H
NP_000534.3
369
Y
H
631
SMPD1
992,700
1
test
existing
1
NP_000534.3
null
NP_004362.2_Q1051E
NP_004362.2
1,051
Q
E
1,224
null
null
0
test
existing
null
NP_004362.2
null
NP_004510.1_G723E
NP_004510.1
723
G
E
872
KCNQ3
138,050
0
test
existing
2
NP_001191753.1
null
NP_005207.3_R298Q
NP_005207.3
298
R
Q
439
DDOST
295,113
0
test
existing
2
NP_005207.3
null
NP_066264.4_R89G
NP_066264.4
89
R
G
630
CHAT
806,470
1
test
existing
2
NP_001333475.2
null
NP_009193.2_T154A
NP_009193.2
154
T
A
189
PARK7
1,119,998
1
test
existing
1
NP_009193.2
null
NP_001866.2_T924S
NP_001866.2
924
T
S
1,500
CPS1
703,102
0
test
existing
1
NP_001866.2
null
NP_057457.1_R156S
NP_057457.1
156
R
S
414
null
null
0
test
existing
null
NP_057457.1
null
NP_004378.1_A119S
NP_004378.1
119
A
S
324
NKX2-5
9,018
0
test
existing
2
NP_001129743.2
null
NP_001258750.1_E177K
NP_001258750.1
177
E
K
219
TREM2
356,674
0
test
existing
2
NP_001258750.1
null
NP_000780.1_R1279Q
NP_000780.1
1,279
R
Q
1,306
ACE
256,807
0
test
existing
2
NP_001369629.1
null
NP_004966.1_F416L
NP_004966.1
416
F
L
858
KCNB1
633,635
1
test
existing
2
NP_004966.1
null
NP_003150.1_H127R
NP_003150.1
127
H
R
1,030
CDKL5
143,818
1
test
existing
2
NP_001310218.1
null
NP_000273.2_Q293E
NP_000273.2
293
Q
E
728
null
null
1
test
existing
null
NP_000273.2
null
NP_056375.2_F182L
NP_056375.2
182
F
L
960
null
null
0
test
existing
null
NP_056375.2
null
NP_001289.1_S401P
NP_001289.1
401
S
P
694
CNGA3
1,444,626
1
test
existing
2
NP_001032406.1
null
NP_004362.2_E863Q
NP_004362.2
863
E
Q
1,224
COPA
1,895,530
0
test
existing
1
NP_004362.2
null
NP_000240.1_L292P
NP_000240.1
292
L
P
756
MLH1
90,404
1
test
existing
2
NP_001341549.1
null
NP_001181939.1_S431L
NP_001181939.1
431
S
L
556
GRHL3
1,611,093
0
test
existing
2
NP_001181939.1
null
NP_056080.1_V131E
NP_056080.1
131
V
E
733
SATB2
420,691
1
test
existing
1
NP_056080.1
null
NP_064551.3_R444H
NP_064551.3
444
R
H
725
MCCC1
203,796
1
test
existing
2
NP_001280202.1
null
NP_000483.3_R560T
NP_000483.3
560
R
T
1,480
CFTR
7,113
1
test
existing
4
NP_005836.2
null
NP_000052.1_R288W
NP_000052.1
288
R
W
659
BTK
11,366
1
test
existing
2
NP_005537.3
null
NP_982301.1_S151L
NP_982301.1
151
S
L
461
null
null
0
test
existing
null
NP_982301.1
null
NP_003916.1_S123L
NP_003916.1
123
S
L
580
MBD4
1,338,160
0
test
existing
2
NP_001263201.1
null
NP_056374.2_E1352K
NP_056374.2
1,352
E
K
1,596
SETBP1
1,389,169
0
test
existing
1
NP_056374.2
null
NP_000527.2_M443I
NP_000527.2
443
M
I
527
RAG2
496,627
1
test
existing
1
NP_000527.2
null
NP_000527.2_G32V
NP_000527.2
32
G
V
527
null
null
1
test
existing
null
NP_000527.2
null
NP_003051.1_P46S
NP_003051.1
46
P
S
557
SLC22A5
193,250
1
test
existing
2
NP_003050.2
null
NP_055134.2_S402F
NP_055134.2
402
S
F
911
LEMD3
883,454
0
test
existing
2
NP_055134.2
null
NP_003051.1_V446F
NP_003051.1
446
V
F
557
SLC22A5
1,424,767
1
test
existing
2
NP_003050.2
null
NP_036234.3_S608F
NP_036234.3
608
S
F
1,566
RERE
2,336,654
0
test
existing
1
NP_036234.3
null
NP_079492.2_P343L
NP_079492.2
343
P
L
417
WNT10A
1,413,070
1
test
existing
1
NP_478679.1
null
NP_115484.2_P366L
NP_115484.2
366
P
L
888
SEMA6B
2,348,795
0
test
existing
1
NP_115484.2
null
NP_004637.1_E246K
NP_004637.1
246
E
K
1,241
null
null
0
test
existing
null
NP_004637.1
null
NP_076984.2_G275D
NP_076984.2
275
G
D
526
ALG8
2,563
1
test
existing
1
NP_076984.2
null
NP_997235.3_R400H
NP_997235.3
400
R
H
525
CYP4V2
39,254
1
test
existing
2
NP_835235.1
null
NP_000268.1_T278I
NP_000268.1
278
T
I
452
PAH
102,863
1
test
existing
3
NP_004170.1
null
NP_000780.1_R1286H
NP_000780.1
1,286
R
H
1,306
null
null
0
test
existing
null
NP_001369629.1
null
NP_004510.1_A375T
NP_004510.1
375
A
T
872
KCNQ3
1,067,624
1
test
existing
1
NP_001191753.1
null
NP_000268.1_R420G
NP_000268.1
420
R
G
452
PAH
2,421,739
1
test
existing
2
NP_004170.1
null
NP_001356355.1_V182L
NP_001356355.1
182
V
L
885
KMT5B
2,502,481
1
test
existing
1
NP_001356355.1
null
NP_005948.3_R68G
NP_005948.3
68
R
G
656
MTHFR
187,869
1
test
existing
2
NP_005948.3
null
NP_001258750.1_S183C
NP_001258750.1
183
S
C
219
TREM2
907,356
0
test
existing
2
NP_001258750.1
null
NP_003156.1_G272R
NP_003156.1
272
G
R
603
STXBP1
1,017,158
0
test
existing
1
NP_001361243.1
null
NP_006256.1_L522V
NP_006256.1
522
L
V
631
RAD21
1,775,332
0
test
existing
2
NP_001130038.2
null
NP_443077.1_R191P
NP_443077.1
191
R
P
250
MMAB
2,501,701
1
test
existing
1
NP_443077.1
null
NP_742105.1_Y562N
NP_742105.1
562
Y
N
872
KCNQ2
2,001,199
1
test
existing
2
NP_001191753.1
null
NP_000483.3_N1303I
NP_000483.3
1,303
N
I
1,480
CFTR
53,846
1
test
existing
2
NP_005836.2
null
NP_000466.2_E52A
NP_000466.2
52
E
A
470
NR0B1
854,941
0
test
existing
1
NP_000466.2
null
NP_003150.1_Y86D
NP_003150.1
86
Y
D
1,030
CDKL5
1,067,592
1
test
existing
1
NP_001310218.1
null
NP_112190.2_A135V
NP_112190.2
135
A
V
546
CDT1
128,676
0
test
existing
2
NP_112190.2
null
NP_068712.1_A305D
NP_068712.1
305
A
D
473
GABRB3
450,287
1
test
existing
1
NP_068712.1
null
NP_000491.4_R427C
NP_000491.4
427
R
C
495
CYP21A2
585,748
1
test
existing
2
NP_000763.1
null
NP_001273540.1_E679D
NP_001273540.1
679
E
D
796
REPS1
1,166,689
0
test
existing
1
NP_004717.2
null
NP_060599.1_R95C
NP_060599.1
95
R
C
261
PNPO
1,297,019
1
test
existing
2
NP_060599.1
null
NP_001357188.2_E45G
NP_001357188.2
45
E
G
610
MEN1
643,100
1
test
existing
2
NP_001357188.2
null
NP_003485.1_E729K
NP_003485.1
729
E
K
2,080
DYSF
572,853
0
test
existing
1
NP_001124459.1
null
NP_004954.2_Y1072C
NP_004954.2
1,072
Y
C
1,073
GUCY2C
782,874
0
test
existing
1
NP_003986.2
null
NP_068711.1_I288T
NP_068711.1
288
I
T
512
GABRB2
421,916
1
test
existing
2
NP_068712.1
null
NP_060798.2_V1143D
NP_060798.2
1,143
V
D
1,494
null
null
0
test
existing
null
NP_060798.2
null
NP_003602.1_E998K
NP_003602.1
998
E
K
1,012
OFD1
1,653,522
0
test
existing
2
NP_003602.1
null
NP_060798.2_S236L
NP_060798.2
236
S
L
1,494
MBD5
1,639,029
0
test
existing
2
NP_060798.2
null
NP_849164.2_V60I
NP_849164.2
60
V
I
383
CERS3
774,226
0
test
existing
2
NP_849164.2
null
NP_000197.1_V152A
NP_000197.1
152
V
A
369
IL2RG
36,386
1
test
existing
2
NP_000197.1
null
NP_001008537.1_R1423H
NP_001008537.1
1,423
R
H
1,516
NEXMIF
684,546
0
test
existing
2
NP_001008537.1
null
NP_001547.1_T344M
NP_001547.1
344
T
M
756
null
null
0
test
existing
null
NP_001229707.1
null
NP_001098548.2_I962V
NP_001098548.2
962
I
V
1,051
null
null
0
test
existing
null
NP_001098548.2
null
NP_000197.1_A348T
NP_000197.1
348
A
T
369
IL2RG
855,653
0
test
existing
1
NP_000197.1
null
NP_003602.1_R467H
NP_003602.1
467
R
H
1,012
OFD1
1,164,897
0
test
existing
2
NP_003602.1
null
NP_003150.1_D193A
NP_003150.1
193
D
A
1,030
CDKL5
1,432,338
1
test
existing
1
NP_001310218.1
null
NP_000415.2_L463P
NP_000415.2
463
L
P
590
KRT5
14,639
1
test
existing
2
NP_004684.2
null
NP_002388.2_A341T
NP_002388.2
341
A
T
473
null
null
0
test
existing
null
NP_001351274.1
null
NP_000243.1_T66I
NP_000243.1
66
T
I
603
MTM1
1,338,304
1
test
existing
1
NP_056273.2
null