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_000251.3_G1782A
NP_000251.3
1,782
G
A
2,215
null
null
1
test
existing
null
NP_000251.3
null
NP_000242.1_R524P
NP_000242.1
524
R
P
934
MSH2
1,759
1
test
existing
3
NP_001393582.1
null
NP_036425.1_V1022M
NP_036425.1
1,022
V
M
1,479
PXDN
772,109
0
test
existing
1
NP_653252.4
null
NP_004637.1_M389I
NP_004637.1
389
M
I
1,241
NPHS1
1,966,495
0
test
existing
1
NP_004637.1
null
NP_000242.1_D295A
NP_000242.1
295
D
A
934
MSH2
1,764,866
0
test
existing
1
NP_001393582.1
null
NP_849164.2_R229H
NP_849164.2
229
R
H
383
CERS3
2,429,320
1
test
existing
1
NP_849164.2
null
NP_742105.1_S195P
NP_742105.1
195
S
P
872
KCNQ2
205,866
1
test
existing
2
NP_001191753.1
null
NP_000240.1_L653P
NP_000240.1
653
L
P
756
MLH1
216,336
1
test
existing
2
NP_001341549.1
null
NP_054722.2_S969F
NP_054722.2
969
S
F
1,227
DHX38
791,648
0
test
existing
2
NP_054722.2
null
NP_003150.1_V999M
NP_003150.1
999
V
M
1,030
CDKL5;RS1
94,110
0
test
existing
2
NP_001310218.1
null
NP_000251.3_G519D
NP_000251.3
519
G
D
2,215
MYO7A
43,151
1
test
existing
2
NP_000251.3
null
NP_000245.2_D919G
NP_000245.2
919
D
G
1,265
MTR
138,289
0
test
existing
2
NP_000245.2
null
NP_000035.2_A736D
NP_000035.2
736
A
D
920
AR
2,445,373
1
test
existing
1
NP_000035.2
null
NP_000243.1_T186I
NP_000243.1
186
T
I
603
MTM1
158,982
1
test
existing
2
NP_056273.2
null
NP_056375.2_R290Q
NP_056375.2
290
R
Q
960
OPA1
5,084
1
test
existing
2
NP_056375.2
null
NP_004966.1_A552T
NP_004966.1
552
A
T
858
KCNB1
1,215,098
0
test
existing
2
NP_004966.1
null
NP_001839.2_G311D
NP_001839.2
311
G
D
1,028
COL6A1
289,651
1
test
existing
2
NP_001840.3
null
NP_004264.2_A389P
NP_004264.2
389
A
P
479
CHST3
1,332,850
1
test
existing
1
NP_004264.2
null
NP_060798.2_D1094N
NP_060798.2
1,094
D
N
1,494
MBD5
755,372
0
test
existing
1
NP_060798.2
null
NP_000021.1_P11R
NP_000021.1
11
P
R
392
AGXT
204,069
1
test
existing
2
NP_000021.1
null
NP_000892.2_E35Q
NP_000892.2
35
E
Q
984
NR3C2
347,738
0
test
existing
2
NP_000892.2
null
NP_036318.1_D156N
NP_036318.1
156
D
N
319
FOXE3
617,852
0
test
existing
2
NP_004464.2
null
NP_006507.2_V165I
NP_006507.2
165
V
I
492
SLC2A1
379,258
1
test
existing
2
NP_001315549.1
null
NP_008825.4_D132H
NP_008825.4
132
D
H
532
FMO3
260,072
0
test
existing
2
NP_008825.4
null
NP_000268.1_G289R
NP_000268.1
289
G
R
452
PAH
102,882
1
test
existing
3
NP_004170.1
null
NP_443077.1_R186W
NP_443077.1
186
R
W
250
MMAB
3,095
1
test
existing
2
NP_443077.1
null
NP_000780.1_P202L
NP_000780.1
202
P
L
1,306
null
null
0
test
existing
null
NP_001369629.1
null
NP_000243.1_G378V
NP_000243.1
378
G
V
603
MTM1
1,028,156
1
test
existing
1
NP_056273.2
null
NP_002171.2_R946W
NP_002171.2
946
R
W
993
IGHMBP2
245,633
0
test
existing
2
NP_002171.2
null
NP_006507.2_N34K
NP_006507.2
34
N
K
492
SLC2A1
666,289
1
test
existing
1
NP_001315549.1
null
NP_000268.1_A309S
NP_000268.1
309
A
S
452
PAH
1,468,012
1
test
existing
1
NP_004170.1
null
NP_000425.1_L302V
NP_000425.1
302
L
V
415
NEU1
2,040,993
0
test
existing
1
NP_000425.1
null
NP_005328.2_T730M
NP_005328.2
730
T
M
1,127
NCKAP1L
2,046,294
0
test
existing
1
NP_005328.2
null
NP_055496.2_T991M
NP_055496.2
991
T
M
1,143
DHX34
2,458,359
0
test
existing
1
NP_055496.2
null
NP_115763.2_A31E
NP_115763.2
31
A
E
1,243
WNK4
889,956
0
test
existing
2
NP_115763.2
null
NP_001070884.2_D362E
NP_001070884.2
362
D
E
369
TMEM231
786,835
0
test
existing
2
NP_001070886.1
null
NP_000243.1_D443A
NP_000243.1
443
D
A
603
MTM1
158,919
1
test
existing
1
NP_056273.2
null
NP_006281.1_F127C
NP_006281.1
127
F
C
790
TNFAIP3
135,334
0
test
existing
2
NP_006281.1
null
NP_000491.4_G292R
NP_000491.4
292
G
R
495
CYP21A2
1,498,831
1
test
existing
1
NP_000763.1
null
NP_003485.1_T1622K
NP_003485.1
1,622
T
K
2,080
null
null
0
test
existing
null
NP_001124459.1
null
NP_742105.1_M208V
NP_742105.1
208
M
V
872
KCNQ2
21,793
1
test
existing
1
NP_001191753.1
null
NP_002238.2_D950N
NP_002238.2
950
D
N
1,178
KCNMA1
978,933
1
test
existing
2
NP_001027006.2
null
NP_004628.4_T168M
NP_004628.4
168
T
M
207
null
null
0
test
existing
null
NP_653194.1
null
NP_065071.1_K91R
NP_065071.1
91
K
R
1,067
ZMIZ1
487,354
1
test
existing
1
NP_113637.3
null
NP_000147.1_W45R
NP_000147.1
45
W
R
236
GAMT
328,352
1
test
existing
3
NP_000147.1
null
NP_000274.3_P125A
NP_000274.3
125
P
A
854
PDE6B
281,812
0
test
existing
2
NP_000274.3
null
NP_056374.2_D1389G
NP_056374.2
1,389
D
G
1,596
null
null
0
test
existing
null
NP_056374.2
null
NP_006281.1_P587L
NP_006281.1
587
P
L
790
TNFAIP3
1,667,172
0
test
existing
1
NP_006281.1
null
NP_054733.2_S1087L
NP_054733.2
1,087
S
L
2,136
SNRNP200
7,928
1
test
existing
2
NP_006819.2
null
NP_001258750.1_T96K
NP_001258750.1
96
T
K
219
TREM2
356,678
0
test
existing
2
NP_001258750.1
null
NP_001840.3_D1001E
NP_001840.3
1,001
D
E
1,019
COL6A2
340,388
0
test
existing
2
NP_001840.3
null
NP_002606.3_P132R
NP_002606.3
132
P
R
418
SERPINF1
322,004
0
test
existing
2
NP_002606.3
null
NP_002769.1_C241G
NP_002769.1
241
C
G
524
PSAP
1,676,842
1
test
existing
1
NP_001078851.1
null
NP_004966.1_M375V
NP_004966.1
375
M
V
858
KCNB1
957,470
1
test
existing
1
NP_004966.1
null
NP_000243.1_D380V
NP_000243.1
380
D
V
603
MTM1
158,900
1
test
existing
1
NP_056273.2
null
NP_653213.6_Q1150R
NP_653213.6
1,150
Q
R
2,211
null
null
0
test
existing
null
NP_653213.6
null
NP_000483.3_A46D
NP_000483.3
46
A
D
1,480
CFTR
53,238
1
test
existing
3
NP_005836.2
null
NP_068712.1_M308R
NP_068712.1
308
M
R
473
GABRB3
1,364,700
1
test
existing
1
NP_068712.1
null
NP_001278.1_E313K
NP_001278.1
313
E
K
805
null
null
1
test
existing
null
NP_001821.2
null
NP_000240.1_L155R
NP_000240.1
155
L
R
756
MLH1
90,241
1
test
existing
3
NP_001341549.1
null
NP_004046.2_R438S
NP_004046.2
438
R
S
640
null
null
0
test
existing
null
NP_004046.2
null
NP_000251.3_M850V
NP_000251.3
850
M
V
2,215
MYO7A
2,175,493
0
test
existing
1
NP_000251.3
null
NP_056374.2_G870S
NP_056374.2
870
G
S
1,596
SETBP1
1,035
1
test
existing
2
NP_056374.2
null
NP_060798.2_R1147Q
NP_060798.2
1,147
R
Q
1,494
MBD5
206,118
0
test
existing
2
NP_060798.2
null
NP_000268.1_F55S
NP_000268.1
55
F
S
452
PAH
120,266
1
test
existing
3
NP_004170.1
null
NP_000052.1_R525G
NP_000052.1
525
R
G
659
BTK
663,091
1
test
existing
1
NP_005537.3
null
NP_000483.3_R347L
NP_000483.3
347
R
L
1,480
CFTR
7,171
1
test
existing
2
NP_005836.2
null
NP_004199.1_R422W
NP_004199.1
422
R
W
613
AIFM1
162,479
1
test
existing
2
NP_665811.1
null
NP_001288.3_G238S
NP_001288.3
238
G
S
1,251
CNGB1
93,704
0
test
existing
2
NP_001288.3
null
NP_004367.2_I347T
NP_004367.2
347
I
T
388
COX15
722,849
0
test
existing
1
NP_001358954.1
null
NP_775771.3_T566K
NP_775771.3
566
T
K
1,244
null
null
0
test
existing
null
NP_775771.3
null
NP_000052.1_T117P
NP_000052.1
117
T
P
659
BTK
1,359,343
1
test
existing
1
NP_005537.3
null
NP_000956.2_W218C
NP_000956.2
218
W
C
448
RARB
1,710,327
1
test
existing
1
NP_955366.1
null
NP_001003800.1_M784V
NP_001003800.1
784
M
V
855
BICD2
541,292
0
test
existing
2
NP_001003800.1
null
NP_000249.1_M149I
NP_000249.1
149
M
I
195
MYL3
181,444
1
test
existing
2
NP_524144.1
null
NP_000138.2_P146L
NP_000138.2
146
P
L
466
FUCA1
296,889
0
test
existing
2
NP_000138.2
null
NP_056080.1_M418R
NP_056080.1
418
M
R
733
SATB2
521,523
1
test
existing
2
NP_056080.1
null
NP_000251.3_T2109I
NP_000251.3
2,109
T
I
2,215
MYO7A
164,724
1
test
existing
3
NP_000251.3
null
NP_066566.3_G359R
NP_066566.3
359
G
R
555
DAB1
221,922
0
test
existing
1
NP_066566.3
null
NP_001307127.1_R66H
NP_001307127.1
66
R
H
486
KRT86
66,547
0
test
existing
2
NP_004684.2
null
NP_000483.3_H897Y
NP_000483.3
897
H
Y
1,480
null
null
0
test
existing
null
NP_005836.2
null
NP_112224.1_I1565V
NP_112224.1
1,565
I
V
1,849
SBF2
381,819
0
test
existing
2
NP_112224.1
null
NP_001547.1_F734L
NP_001547.1
734
F
L
756
IKBKB
1,109,884
0
test
existing
2
NP_001229707.1
null
NP_001357188.2_C241Y
NP_001357188.2
241
C
Y
610
MEN1
200,980
1
test
existing
2
NP_001357188.2
null
NP_612422.2_G76D
NP_612422.2
76
G
D
327
HOGA1
204,280
1
test
existing
2
NP_612422.2
null
NP_892003.2_T456S
NP_892003.2
456
T
S
467
KAT8
2,340,050
0
test
existing
1
NP_892003.2
null
NP_000534.3_G579S
NP_000534.3
579
G
S
631
SMPD1
2,982
1
test
existing
2
NP_000534.3
null
NP_000483.3_Y563C
NP_000483.3
563
Y
C
1,480
CFTR
1,706,063
1
test
existing
2
NP_005836.2
null
NP_742105.1_V103D
NP_742105.1
103
V
D
872
KCNQ2
1,426,976
1
test
existing
1
NP_001191753.1
null
NP_078790.2_L99P
NP_078790.2
99
L
P
501
CYP2R1
2,134
1
test
existing
2
NP_000763.1
null
NP_009125.1_P21S
NP_009125.1
21
P
S
543
CHEK2
1,752,167
0
test
existing
1
NP_009125.1
null
NP_005546.2_I178N
NP_005546.2
178
I
N
564
KRT6B
430,318
1
test
existing
1
NP_004684.2
null
NP_002240.3_H155Q
NP_002240.3
155
H
Q
731
KCNN3
2,471,884
0
test
existing
1
NP_002240.3
null
NP_001357188.2_S178C
NP_001357188.2
178
S
C
610
MEN1
988,365
1
test
existing
1
NP_001357188.2
null
NP_938011.1_D470N
NP_938011.1
470
D
N
1,630
NHS
1,955,030
0
test
existing
2
NP_001129496.1
null
NP_003051.1_S28R
NP_003051.1
28
S
R
557
SLC22A5
1,472,873
1
test
existing
1
NP_003050.2
null
NP_004966.1_V349F
NP_004966.1
349
V
F
858
KCNB1
633,624
1
test
existing
2
NP_004966.1
null
NP_001840.3_Q888R
NP_001840.3
888
Q
R
1,019
COL6A2
1,491,901
0
test
existing
1
NP_001840.3
null
NP_000651.3_R218H
NP_000651.3
218
R
H
390
TGFB1
12,529
1
test
existing
2
NP_000651.3
null
NP_004378.1_F145L
NP_004378.1
145
F
L
324
NKX2-5
1,515,823
1
test
existing
1
NP_001129743.2
null