ClinVar Miner

Variants studied for skeletal muscle disorder

Included ClinVar conditions (610):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign affects association pathogenic, low penetrance risk factor other not provided total
9541 7805 49879 51530 8406 3 4 1 11 1 424 120100

Gene and significance breakdown #

Total genes and gene combinations: 695
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association pathogenic, low penetrance risk factor other not provided total
TTN 284 2304 6503 10500 1457 0 0 0 0 0 31 19249
NEB 581 489 2236 4769 416 0 0 0 0 0 9 7812
DMD 1968 433 2046 3160 426 0 0 1 0 0 9 7570
PLEC 67 14 2730 1834 253 0 0 0 0 0 13 4880
LAMA2 513 468 1113 2239 148 0 0 0 0 0 12 4303
FLNC 296 77 1801 1882 181 0 0 0 0 0 7 4159
SYNE1 103 35 2187 1517 392 0 0 0 0 0 2 3998
SYNE2 2 4 1909 1147 407 0 0 0 0 0 4 3241
COL6A3 85 51 1093 1282 329 0 0 0 0 0 9 2648
COL12A1 56 32 1243 1187 131 0 0 0 0 0 18 2607
SDHA 145 68 1263 812 53 0 0 0 0 0 8 2283
NEB, RIF1 211 191 580 1255 112 0 0 0 0 0 5 2138
COL6A2 147 86 638 772 164 0 0 0 0 0 9 1640
CAPN3 297 239 501 604 41 0 0 0 0 0 15 1481
COL6A1 105 56 372 684 319 0 0 0 0 0 8 1435
RYR1 145 181 787 153 97 0 0 0 4 0 19 1255
DYSF 204 323 500 130 87 0 0 0 0 0 9 1118
POMGNT1, TSPAN1 95 154 344 513 19 0 0 0 0 0 2 1024
SMCHD1 52 16 491 413 50 0 0 0 0 0 1 1016
ANO5 108 65 530 291 50 1 0 0 0 0 9 1001
POMT1 120 93 337 433 61 0 0 0 0 0 0 973
POMT2 78 70 374 444 45 0 0 0 0 0 3 970
BAG3 83 7 559 276 47 0 0 0 0 0 1 939
FKRP 131 116 381 380 16 0 0 0 0 0 1 937
MYH2, MYHAS 43 20 563 313 33 0 0 0 0 0 0 937
GNE 125 130 355 379 18 1 0 0 0 0 12 901
DOK7 77 25 295 465 42 0 0 0 0 0 2 889
DES 81 41 498 263 28 0 0 0 0 0 4 880
LDB3 10 1 551 273 46 0 0 0 0 0 0 864
MEGF10 32 14 528 286 46 0 0 0 0 0 0 854
FKTN 82 67 386 325 31 0 0 0 0 0 0 840
LARGE1 53 10 296 450 37 0 0 0 0 0 1 823
ATP2A1 48 18 371 281 24 0 0 0 0 0 4 713
TRAPPC11 40 22 347 283 32 0 0 0 0 0 0 708
ITGA7 31 20 345 279 46 0 0 0 0 0 3 705
SGCA 91 131 199 313 19 0 0 0 0 0 0 669
MTM1 174 72 115 258 66 0 0 0 0 0 2 650
BIN1 8 6 310 257 39 0 0 0 0 0 2 582
STIM1 18 13 283 211 29 0 0 0 0 0 2 548
KBTBD13 4 2 307 182 78 0 0 0 0 0 1 547
DAG1 11 7 332 185 15 0 0 0 0 0 2 544
CCDC78 1 1 272 210 30 0 0 0 0 0 2 511
KCNA1 17 12 283 146 57 0 0 0 0 0 5 510
SELENON 79 39 220 178 28 0 0 0 0 0 1 506
SGCD 28 15 209 227 26 0 0 0 0 0 0 490
TNPO3 3 5 245 214 29 0 0 0 0 0 1 489
VCP 19 13 162 261 35 0 0 0 0 0 1 484
CNTN1 16 4 215 220 28 0 0 0 0 0 3 483
SUN1 0 0 242 185 51 0 0 0 0 0 0 478
EMD 80 15 172 219 25 0 0 0 0 0 0 477
HADHB 60 65 130 227 22 0 0 0 0 0 0 470
ACTA1 124 79 156 106 20 0 0 0 0 0 7 446
SGCG 71 63 143 175 28 0 0 0 0 0 0 444
KLHL40 27 19 245 137 21 0 0 0 0 0 1 438
GAREM2, HADHA 63 22 87 260 18 0 0 0 0 0 0 433
RBCK1 27 8 183 198 20 0 0 0 0 0 0 433
AMPD1 4 5 266 137 25 0 0 0 0 0 2 414
SGCB 66 54 135 185 7 0 0 0 0 0 1 409
PRICKLE2 2 0 238 146 21 0 0 0 0 0 0 406
POMGNT2 23 4 229 135 13 0 0 0 0 0 0 399
FHL1 72 15 159 137 16 0 0 0 0 0 1 395
HADHA 52 31 70 245 8 0 0 0 0 0 0 395
B3GALNT2 36 18 191 130 12 0 0 0 0 0 0 377
MATR3 3 1 189 138 49 0 0 0 0 0 0 367
DNAJB6 14 4 195 126 33 0 0 0 0 0 0 363
TAFAZZIN 45 48 142 141 10 0 0 0 0 0 0 359
HNRNPDL 2 0 199 153 13 0 0 0 0 0 0 358
CACNA1S 14 2 120 150 72 0 0 0 0 0 0 355
CRPPA 50 14 151 122 22 0 0 0 0 0 0 353
MYOT, PKD2L2-DT 7 3 206 124 22 0 0 0 0 0 1 341
CHKB, CHKB-CPT1B 30 6 164 132 18 0 0 0 0 0 1 330
TPM3 22 19 182 95 26 0 0 0 0 0 12 322
GH-LCR, SCN4A 31 16 194 66 75 0 0 0 0 0 3 314
MYH7 33 26 184 54 49 0 0 0 0 0 6 299
LMOD3 23 4 175 84 16 0 0 0 0 0 0 298
GMPPB 32 18 124 111 6 0 0 0 0 0 0 281
LIMS2 2 2 152 96 16 0 0 0 0 0 0 267
TNNT1 22 13 113 118 14 0 0 0 0 0 1 266
HNRNPA2B1 5 1 68 168 23 0 0 0 0 0 0 264
KLHL41 21 6 129 85 15 0 0 0 0 0 0 252
LOC101927055, TTN 1 6 82 154 22 0 0 0 0 0 0 245
POMGNT1 20 31 101 91 5 0 0 0 0 0 0 232
LMNA 39 25 133 31 12 0 0 0 0 0 8 231
TOR1AIP1 5 11 112 91 14 0 0 0 0 0 0 228
POMK 24 2 122 77 8 0 0 0 0 0 1 227
GTPBP1, SUN2 0 0 128 81 17 0 0 0 0 0 0 226
STAC3 12 4 106 89 9 0 0 0 0 0 5 218
TIA1 1 0 105 92 16 0 0 0 0 0 0 213
LOC126806422, TTN 1 43 49 121 15 0 0 0 0 0 0 208
GYG1 22 5 94 73 13 0 0 0 0 0 0 202
LOC126806423, TTN 5 39 48 107 13 0 0 0 0 0 0 195
CHCHD10 4 1 102 69 10 0 0 0 0 0 4 188
DM1, DMPK, LOC107075317, LOC109461477 176 0 0 0 12 0 0 0 0 0 0 187
LOC126806425, TTN 1 40 50 100 20 0 0 0 0 0 0 184
ORAI1 4 7 98 61 8 0 0 0 0 0 1 176
B4GAT1 4 1 86 77 6 0 0 0 0 0 1 172
LOC126806424, TTN 4 34 48 91 14 0 0 0 0 0 0 172
LOC130008987, ORAI1 3 0 114 47 3 0 0 0 0 0 1 166
LOC126806430, TTN 0 2 47 115 20 0 0 0 0 0 0 164
LOC126806421, TTN 1 30 44 87 12 0 0 0 0 0 0 163
SUN2 0 0 79 71 13 0 0 0 0 0 0 163
LOC126862500, MYH2, MYHAS 12 9 89 49 6 0 0 0 0 0 0 160
SCN4A 12 5 107 38 31 0 0 0 0 0 1 160
ASTN2, TRIM32 8 6 133 8 6 0 0 0 0 0 1 159
LOC126806431, TTN 0 2 52 103 11 0 0 0 0 0 0 156
LOC126806426, TTN 1 27 35 81 8 0 0 0 0 0 0 144
NDUFA10 0 0 116 12 16 0 0 0 0 0 0 144
LOC112577517, TOR1AIP1 7 0 92 42 3 0 0 0 0 0 0 142
LOC126806420, TTN 0 31 38 70 15 0 0 0 0 0 0 138
POLG 32 23 81 6 4 0 0 0 0 0 6 137
KIF21A 8 2 57 11 56 0 0 0 0 0 0 132
LOC129935183, TTN 2 13 84 31 7 0 0 0 0 0 0 130
ITGA7, LOC126861535 7 5 68 44 6 0 0 0 0 0 0 129
LOC126806433, TTN 0 7 48 76 4 0 0 0 0 0 0 129
LOC126806427, TTN 2 6 46 77 13 0 0 0 0 0 0 128
MYPN 9 3 89 14 11 0 0 0 0 0 1 126
DNM2 15 6 54 10 47 0 0 0 0 0 1 125
LOC126806428, TTN 0 1 38 88 10 0 0 0 0 0 0 122
CFL2 8 1 68 31 12 0 0 0 0 0 0 118
TYMP 43 32 40 4 8 0 0 0 0 0 0 117
AMPD3 1 1 89 8 14 1 0 0 0 0 0 112
RRM2B 5 3 53 12 36 0 0 0 0 0 1 107
TWNK 15 11 51 6 29 0 0 0 0 0 1 106
ACTN2 2 2 76 12 11 0 0 0 0 0 0 101
LDB3, LOC110121486 2 1 59 37 8 0 0 0 0 0 2 100
MYO18B 12 17 53 4 14 0 0 0 0 0 2 99
CLCN1 5 4 27 22 28 0 0 0 0 0 14 98
LAMA2, LOC123864065 12 9 25 50 5 0 0 0 0 0 2 98
DPM2 7 2 42 43 6 0 0 0 0 0 0 95
LOC124418421, STIM1 0 0 69 21 2 0 0 0 0 0 0 92
LOC126806373, NEB 5 3 31 62 3 0 0 0 0 0 0 91
PUS1 5 16 47 19 13 0 0 0 0 0 0 89
LOC126806429, TTN 0 0 31 56 10 0 0 0 0 0 0 86
SLC25A4 6 1 47 6 26 0 0 0 0 0 0 85
CAPN3, LOC126862115 17 8 27 32 3 0 0 0 0 0 0 83
LOC126859837, SYNE1 3 1 42 35 6 0 0 0 0 0 0 83
NUBPL 0 1 70 2 10 0 0 0 0 0 0 83
LOC126807526, MATR3 1 0 48 32 3 0 0 0 0 0 0 78
COL12A1, LOC126859712 1 0 36 32 5 0 0 0 0 0 0 74
VMA21 9 1 31 20 14 0 0 0 0 0 0 73
LOC129992585, SGCB 19 13 19 29 0 0 0 0 0 0 0 71
LMOD3, LOC126806710 7 1 32 23 7 0 0 0 0 0 0 69
LOC126862501, MYH2, MYHAS 5 4 35 23 5 0 0 0 0 0 0 69
LOC130067862, SCO2, TYMP 30 11 24 7 6 0 0 0 0 0 0 69
LOC129935182, TTN 4 8 44 13 1 0 0 0 0 0 0 67
LOC126807238, TRAPPC11 2 1 30 30 5 0 0 0 0 0 0 66
NDUFS1 1 2 47 10 5 0 0 0 0 0 0 65
NCAPH2, SCO2 16 16 31 3 0 0 0 0 0 0 0 63
TMEM43 2 1 44 7 8 0 0 0 0 0 0 62
ESR1, SYNE1 0 0 37 13 12 0 0 0 0 0 0 61
COL6A3, LOC126806573 1 0 22 32 7 0 0 0 0 0 0 60
LOC126861897, MHRT, MYH7 13 6 35 3 5 0 0 0 0 0 3 60
NDUFAF4 0 0 44 7 7 0 0 0 0 0 0 58
DOK7, LOC129992118 3 1 26 25 3 0 0 0 0 0 0 57
MT-TT 1 0 6 10 36 0 0 0 0 0 0 53
TCAP 4 8 35 3 3 0 0 0 0 0 1 53
ZC4H2 26 11 15 0 1 0 0 0 0 0 1 52
DPM3 13 2 27 6 3 0 0 0 0 0 1 49
SDHD 6 6 35 1 3 0 0 0 0 0 0 49
FOXRED1 1 0 42 2 2 0 0 0 0 0 0 47
YARS2 7 4 26 4 8 0 0 0 0 0 0 45
TPM2 8 5 18 6 8 0 0 0 0 0 1 44
MILR1, POLG2 4 1 23 4 13 0 0 0 0 0 0 43
POLG, POLGARF 5 11 18 6 2 0 0 0 0 0 1 43
ASIC4, SPEG 6 5 25 1 7 0 0 0 0 0 1 42
LAMA2, LOC126859784 6 3 12 21 0 0 0 0 0 0 0 41
CRYAB 7 1 26 3 6 0 0 0 0 0 3 40
LOC129997480, SYNE1 1 0 20 19 3 0 0 0 0 0 0 40
NDUFS2 0 0 35 2 3 0 0 0 0 0 0 40
MYF6 0 0 26 12 3 0 0 0 0 0 0 39
NDUFS4 9 17 10 0 4 0 0 0 0 0 0 39
SPEG 4 1 30 1 2 0 0 0 0 0 1 39
DMD, LOC129391296 33 4 1 0 0 0 0 0 0 0 0 38
DNASE1L1, LOC130068869, TAFAZZIN 2 4 16 17 1 0 0 0 0 0 0 38
COL6A3, LOC122889011 11 8 10 8 1 0 0 0 0 0 0 37
NDUFV1 0 1 34 0 2 0 0 0 0 0 0 37
B3GALNT2, TBCE 2 2 22 11 0 0 0 0 0 0 0 36
MSTO1 11 10 22 1 1 0 0 0 0 0 0 36
BVES 4 2 27 0 3 0 0 0 0 0 0 35
CRPPA, LOC129998005 6 0 19 7 3 0 0 0 0 0 0 35
DOK7, LOC126806951 2 2 12 18 2 0 0 0 0 0 0 35
MT-TH 1 1 12 4 16 0 0 0 0 0 2 35
NDUFAF1 0 0 27 4 4 0 0 0 0 0 0 35
ADSS1 5 5 19 0 5 0 0 0 0 0 1 33
MT-TW 7 1 8 5 13 0 0 0 0 0 1 33
LOC126862902, RYR1 3 5 15 6 7 0 0 0 0 0 0 32
MHRT, MYH7 4 3 21 5 5 0 0 0 0 0 1 32
MT-TF 4 2 5 6 15 0 0 0 0 0 2 32
CAV3, OXTR 9 4 20 3 1 0 0 0 0 0 0 31
MT-TK 6 2 6 7 10 0 0 0 0 0 6 31
LOC126859838, SYNE1 1 0 14 16 1 0 0 0 0 0 0 30
LOC129935184, TTN 2 0 20 10 4 0 0 0 0 0 1 30
MT-TL1 12 4 8 4 6 0 0 0 0 0 6 30
MT-TC 1 0 6 4 19 0 0 0 0 0 0 29
MT-TG 0 1 11 5 11 0 0 0 0 0 0 28
MT-TQ 2 1 4 4 17 0 0 0 0 0 1 28
MT-TV 4 3 12 6 5 0 0 0 0 0 2 28
NDUFAF3 1 0 27 0 0 0 0 0 0 0 0 28
ANXA11 2 0 1 1 23 0 0 0 0 0 0 27
FLNC, LOC129999273 2 0 10 13 2 0 0 0 0 0 0 27
LOC130001334, PLEC 1 0 12 11 3 0 0 0 0 0 0 27
MT-TD 0 1 9 6 11 0 0 0 0 0 0 27
DNA2 5 3 9 6 3 0 0 0 0 0 1 26
KCNA1, LOC130007218 0 0 19 6 1 0 0 0 0 0 0 26
DMD, MIR3915, MIR548F5 23 0 2 0 0 0 0 0 0 0 0 25
MT-TS2 3 2 7 2 13 0 0 0 0 0 1 25
RXYLT1 9 4 11 1 1 0 0 0 0 0 1 25
CASQ1 3 2 17 2 0 0 0 0 0 0 0 23
LOC129999289, TNPO3 0 0 10 12 1 0 0 0 0 0 0 23
LOC130056177, POMT2 0 0 13 6 4 0 0 0 0 0 0 23
MT-TS1 4 0 6 3 10 0 0 0 0 0 1 23
PNPLA8 5 5 10 1 2 0 0 0 0 0 0 23
BCL2L2-PABPN1, PABPN1 10 1 14 0 0 0 0 0 0 0 0 22
DNM1L, YARS2 0 0 5 17 7 0 0 0 0 0 0 22
JAG2 6 4 17 0 0 0 0 0 0 0 0 22
MT-TI 4 3 5 2 10 0 0 0 0 0 0 22
MT-TL2 3 1 6 2 9 0 0 0 0 0 1 22
CAPN3, LOC130056921 6 3 5 11 1 0 0 0 0 0 0 21
INPP5K 9 2 8 0 2 0 0 0 0 0 0 21
MT-TA 3 0 6 4 8 0 0 0 0 0 0 21
PYROXD1 7 2 5 0 8 0 0 0 0 0 0 21
TUBB3 8 3 5 0 0 0 0 0 0 0 13 21
LOC126861898, MYH7 2 6 10 3 2 0 0 0 0 0 0 20
MICU1 14 6 4 0 1 0 0 0 0 0 0 20
MT-TP 3 1 9 2 6 0 0 0 0 0 0 20
MT-TR 2 3 3 4 8 0 0 0 0 0 0 20
MT-TY 2 0 9 5 4 0 0 0 0 0 0 20
NDUFS3 0 0 20 0 0 0 0 0 0 0 0 20
LOC126859921, SUN1 0 0 11 7 1 0 0 0 0 0 0 19
LOC129935185, TTN 0 1 13 5 1 0 0 0 0 0 0 19
MT-TE 5 3 2 2 9 0 0 0 0 0 0 19
MYBPC1 4 1 4 2 9 0 0 0 0 0 0 19
NDUFS8 0 0 18 0 1 0 0 0 0 0 0 19
COL6A2, FTCD 1 0 1 8 11 0 0 0 0 0 0 18
MYL2 4 2 10 1 1 0 0 0 0 0 0 18
COX15 5 4 7 0 2 0 0 0 0 0 0 17
DNASE1L1, TAFAZZIN 3 2 6 6 1 0 0 0 0 0 0 17
GMPPB, LOC129936764 2 0 6 8 1 0 0 0 0 0 0 17
LMNA, LOC129931597 3 6 6 1 1 0 0 0 0 0 1 17
LOC126861242, NDUFV1 2 2 13 1 0 0 0 0 0 0 0 17
NDUFS7 0 0 15 0 2 0 0 0 0 0 0 17
SDHB 6 1 7 4 2 0 0 0 0 0 0 17
TOP3A 3 2 3 2 7 0 0 0 0 0 0 17
CRPPA, LOC129998004 4 0 8 4 0 0 0 0 0 0 0 16
LMNA, LOC126805877 3 3 8 3 1 0 0 0 0 0 0 16
LOC126859836, SYNE1 0 0 7 6 4 0 0 0 0 0 0 16
LOC130056175, POMT2 4 5 8 4 0 0 0 0 0 0 0 16
MT-ND5 7 3 4 0 0 0 0 0 0 0 7 16
DMPK 5 1 7 0 2 0 0 0 0 0 0 15
LOC126806432, TTN 0 0 12 2 1 0 0 0 0 0 0 15
MT-TN 1 0 5 2 7 0 0 0 0 0 0 15
BIN1, LOC122819150 0 0 13 1 0 0 0 0 0 0 0 14
MT-TM 1 1 5 1 6 0 0 0 0 0 0 14
MYH2 1 1 12 0 0 0 0 0 0 0 0 14
NDUFV2 0 0 11 1 2 0 0 0 0 0 0 14
TK2 7 1 2 1 3 0 0 0 0 0 0 14
CEP63, KY 4 1 5 0 3 0 0 0 0 0 0 13
DGUOK 7 2 3 1 1 0 0 0 0 0 0 13
FLAD1 10 0 2 1 0 0 0 0 0 0 0 13
ISCU 2 0 6 2 4 0 0 0 0 0 2 13
LOC129391106, RYR1 1 1 7 4 2 0 0 0 0 0 0 13
NDUFA11 0 0 13 0 0 0 0 0 0 0 0 13
NDUFA2, TMCO6 0 0 11 0 2 0 0 0 0 0 0 13
NDUFAF2 0 1 10 2 0 0 0 0 0 0 0 13
RYR3 4 0 10 0 0 0 0 0 0 0 0 13
SACS, SGCG 1 0 2 7 3 0 0 0 0 0 0 13
SDHAF1 1 0 10 1 1 0 0 0 0 0 0 13
​intergenic 9 0 2 0 1 0 0 0 0 0 0 12
DPM2, LOC130002675 0 0 11 0 1 0 0 0 0 0 0 12
LOC129993885, NDUFS4 1 2 8 0 1 0 0 0 0 0 0 12
LOC130062084, SMCHD1 1 1 4 6 1 0 0 0 0 0 0 12
LOC130065089, TNNT1 4 0 5 3 0 0 0 0 0 0 0 12
NDUFS6 0 0 11 0 1 0 0 0 0 0 0 12
LOC129935186, TTN 0 2 3 7 1 0 0 0 0 0 0 11
LOC130067862, TYMP 6 2 4 1 0 0 0 0 0 0 0 11
MT-CYB 3 3 3 0 0 0 0 0 0 0 2 11
ZFPM2 6 1 4 1 0 0 0 0 0 0 0 11
CCDC174 0 0 5 1 4 0 0 0 0 0 0 10
GFER 5 2 3 0 1 0 0 0 0 0 2 10
LOC112552175, NDUFA11 0 0 7 1 2 0 0 0 0 0 0 10
LOC129935473, NDUFS1 0 0 9 0 1 0 0 0 0 0 0 10
POGLUT1 7 1 0 0 2 0 0 0 0 0 0 10
CAV3 4 1 2 1 1 0 0 0 0 0 1 9
COL25A1 4 3 2 0 0 0 0 0 0 0 0 9
CRPPA, LOC129389757 1 0 4 4 0 0 0 0 0 0 0 9
LOC130009240, PUS1 1 3 2 2 1 0 0 0 0 0 0 9
LOC130055816, SYNE2 0 0 6 0 3 0 0 0 0 0 0 9
LOC130067864, TYMP 7 2 3 0 1 0 0 0 0 0 0 9
MAP3K20 3 0 0 1 5 0 0 0 0 0 0 9
PAX7 4 1 4 0 1 0 0 0 0 0 0 9
SQSTM1 1 1 2 2 3 0 0 0 0 0 0 9
CHKB, CHKB-CPT1B, LOC130067882 1 1 2 5 0 0 0 0 0 0 0 8
DM1, DMPK, LOC107075317, LOC109461477, LOC129929040 5 0 0 0 3 0 0 0 0 1 0 8
DNM2, LOC130063529 0 0 7 0 1 0 0 0 0 0 0 8
FXR1 4 0 3 1 0 0 0 0 0 0 0 8
LOC132090059, PUS1 1 2 3 2 3 0 0 0 0 0 0 8
PLS3 5 3 5 0 0 0 0 0 0 0 0 8
SVIL 2 0 4 2 0 0 0 0 0 0 0 8
UNC45B 5 2 2 0 1 0 0 0 0 0 0 8
ALDH1A2 4 0 3 0 0 0 0 0 0 0 0 7
COA6 3 0 1 1 2 0 0 0 0 0 0 7
COL12A1, LOC129996730 1 1 3 2 0 0 0 0 0 0 0 7
DMD, MIR548F5 6 1 0 0 0 0 0 0 0 0 0 7
DYSF, LOC122787137 1 3 4 1 1 0 0 0 0 0 0 7
GYG1, LOC129937737 0 3 2 2 0 0 0 0 0 0 0 7
HADHA, HADHB 2 0 2 2 1 0 0 0 0 0 0 7
HMGCR 7 0 0 0 0 0 0 0 0 0 0 7
HMGCS1 7 0 0 0 0 0 0 0 0 0 0 7
HNRNPA1 2 2 2 1 0 0 0 0 0 0 0 7
LOC126861897, MYH7 0 1 5 1 1 0 0 0 0 0 0 7
LOC130064279, SDHAF1 2 1 4 0 0 0 0 0 0 0 0 7
LOC130064357, RYR1 0 0 6 1 1 0 0 0 0 0 0 7
MT-ND1 4 3 0 0 0 0 0 0 0 0 3 7
RNASEH1 3 1 2 0 2 0 0 0 0 0 0 7
SCO2, TYMP 0 0 5 3 1 0 0 0 0 0 0 7
SLC16A1 2 1 0 2 2 0 0 0 0 0 0 7
TRIP4 3 0 2 1 1 0 0 0 0 0 0 7
BVES, POPDC3 6 0 0 0 0 0 0 0 0 0 0 6
DMD, LOC129391296, LOC129391297 5 1 0 0 0 0 0 0 0 0 0 6
HACD1 6 0 0 0 0 0 0 0 0 0 0 6
LOC130000897, RRM2B 0 0 1 0 5 0 0 0 0 0 0 6
LOC130006217, NDUFV1 0 0 5 0 1 0 0 0 0 0 0 6
LOC130062145, NDUFV2 0 0 6 0 0 0 0 0 0 0 0 6
MTMR14 0 1 4 1 0 0 0 0 0 0 0 6
MYRF 0 6 0 0 0 0 0 0 0 0 0 6
NCAPH2, SCO2, TYMP 0 0 1 3 4 0 0 0 0 0 0 6
DMD, MIR3915 3 1 1 0 0 0 0 0 0 0 0 5
FANCI, POLG 0 0 2 0 3 0 0 0 0 0 0 5
GFER, LOC130058203 2 2 1 1 0 0 0 0 0 0 0 5
LOC129993501, SLC25A4 0 0 2 0 3 0 0 0 0 0 0 5
LOC130005165, STIM1 0 0 3 2 0 0 0 0 0 0 0 5
LOC130056176, POMT2 0 0 1 4 0 0 0 0 0 0 0 5
LOC130064281, SDHAF1 0 0 3 1 1 0 0 0 0 0 0 5
MYOD1 3 1 1 0 0 0 0 0 0 0 0 5
TIMMDC1 0 1 4 0 0 0 0 0 0 0 0 5
TNNI3, TNNT1 1 0 1 2 3 0 0 0 0 0 0 5
DNAJB4 4 0 0 0 0 0 0 0 0 0 0 4
DNMT3B 1 0 2 1 0 0 0 0 0 0 0 4
FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 2 2 0 0 0 0 0 0 0 0 4
FOXRED1, LOC130007026 0 0 3 0 1 0 0 0 0 0 0 4
FREM2 0 2 0 0 0 0 0 0 2 0 0 4
JPH1 1 3 0 0 0 0 0 0 0 0 0 4
LARGE1, LOC130067281 0 0 4 0 0 0 0 0 0 0 0 4
LOC129931761, NDUFS2 0 0 3 0 1 0 0 0 0 0 0 4
LOC130067866, TYMP 0 0 4 0 0 0 0 0 0 0 0 4
POPDC1 2 1 1 2 0 0 0 0 0 0 0 4
SMPX 4 0 0 0 0 0 0 0 0 0 0 4
TUBA1A 2 2 0 0 0 0 0 0 0 0 0 4
ACTA1, LOC122152321 0 0 1 0 2 0 0 0 0 0 0 3
ATP2A1, RABEP2 1 0 1 0 1 0 0 0 0 0 0 3
BET1 3 0 0 0 0 0 0 0 0 0 0 3
BICD2 1 2 0 0 0 0 0 0 0 0 0 3
CHKB 1 0 2 0 0 0 0 0 0 0 0 3
COL6A1, COL6A2, COL6A2-DT, LOC121853033, LOC130066866 1 0 2 0 0 0 0 0 0 0 0 3
DES, DES-LCR 0 0 2 1 0 0 0 0 0 0 0 3
DGUOK, LOC129934096 2 0 1 0 0 0 0 0 0 0 0 3
DM1, DMPK, LOC107075317 0 0 2 1 0 0 0 0 0 0 0 3
DMD, LOC121627963, LOC125446277, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089 1 1 1 0 0 0 0 0 0 0 0 3
DMD, LOC129391297 3 0 0 0 0 0 0 0 0 0 0 3
DOK7, LOC126806951, LOC129992118 3 0 0 0 0 0 0 0 0 0 0 3
FDX2, FDX2-ZGLP1 2 1 1 0 1 0 0 0 0 0 0 3
FKTN, TAL2, TMEM38B 2 0 1 0 0 0 0 0 0 0 0 3
FRAS1 0 0 0 0 0 0 0 0 3 0 0 3
GAA 1 0 1 0 1 0 0 0 0 0 0 3
GATA6 3 0 0 0 0 0 0 0 0 0 0 3
GGPS1 0 1 2 0 0 0 0 0 0 0 0 3
GPR17, LIMS2 0 0 3 0 0 0 0 0 0 0 0 3
IL1B 0 0 0 0 0 0 3 0 0 0 0 3
LINC00362, LOC130009362, LOC130009363, LOC130009364, LOC130009365, LOC130009366, LOC130009367, LOC130009368, LOC130009369, LOC132090179, SACS, SGCG 2 0 1 0 0 0 0 0 0 0 0 3
LOC114827850, MYL2 0 1 2 0 0 0 0 0 0 0 0 3
LOC126860469, ZFPM2 1 0 1 1 0 0 0 0 0 0 0 3
LOC126861339, SDHD 0 0 2 0 1 0 0 0 0 0 0 3
LOC129930471, POMGNT1 1 0 2 0 0 0 0 0 0 0 0 3
LOC129996857, NDUFAF4 0 0 3 0 0 0 0 0 0 0 0 3
LOC130064280, SDHAF1 3 0 0 0 0 0 0 0 0 0 0 3
LOC130065433, NDUFAF5 0 0 3 0 0 0 0 0 0 0 0 3
LOC132089829, MYPN 0 0 2 0 1 0 0 0 0 0 0 3
MAMLD1, MTM1 2 0 1 0 0 0 0 0 0 0 0 3
MATR3, SNHG4 0 0 2 0 1 0 0 0 0 0 0 3
MT-CO1 0 2 0 0 0 0 0 0 0 0 1 3
MT-CO3 1 0 1 0 0 0 0 0 0 0 1 3
MT-ND6 1 1 1 0 0 0 0 0 0 0 1 3
MYL1 2 1 0 0 1 0 0 0 0 0 0 3
PHOX2A 3 0 1 0 0 0 0 0 0 0 0 3
SCO2 0 0 1 1 2 0 0 0 0 0 0 3
ABCD1, ARHGAP4, AVPR2, DNASE1L1, EMD, FLNA, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, RENBP, RPL10, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187 1 0 1 0 0 0 0 0 0 0 0 2
ACADVL 0 2 0 0 0 0 0 0 0 0 0 2
ACKR3, COL6A3, COPS8 1 0 1 0 0 0 0 0 0 0 0 2
ANXA11, LOC126860977 0 0 0 0 2 0 0 0 0 0 0 2
ARL5A, CACNB4, NEB 2 0 0 0 0 0 0 0 0 0 0 2
ASCC3 0 1 1 0 0 0 0 0 0 0 0 2
ATP6V1F, FLNC, IRF5, KCP, TNPO3 1 0 1 0 0 0 0 0 0 0 0 2
BIN1, LOC112806045 0 0 2 0 0 0 0 0 0 0 0 2
C22orf15, CHCHD10 0 0 2 0 0 0 0 0 0 0 0 2
CAPN3, GANC 1 1 0 0 0 0 0 0 0 0 0 2
CAPN3, LOC126862115, LOC130056920, LOC130056921 2 0 0 0 0 0 0 0 0 0 0 2
CD99L2, GPR50, HMGB3, MAMLD1, MTM1, MTMR1, VMA21 1 0 2 0 0 0 0 0 0 0 0 2
CELSR1 0 0 2 0 0 0 0 0 0 0 0 2
CEP63, KY, LOC123038188 0 1 0 0 1 0 0 0 0 0 0 2
CFL2, LOC130055474, LOC130055475 1 0 1 0 0 0 0 0 0 0 0 2
CHRNA1 2 0 0 0 0 0 0 0 0 0 0 2
CLCN1, LOC123956257 0 0 2 0 0 0 0 0 0 0 0 2
CNBP 0 0 1 0 1 0 0 0 0 0 0 2
COL6A2, LOC121853033 0 0 2 0 0 0 0 0 0 0 0 2
CRPPA, LOC129389758 2 0 0 0 0 0 0 0 0 0 0 2
DM1, DMPK, LOC107075317, LOC129929041 0 0 1 1 0 0 0 0 0 0 0 2
DM1, DMPK, LOC107075317, LOC129929042 0 0 2 0 0 0 0 0 0 0 0 2
DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 1 0 0 0 0 0 0 0 0 0 2
DNMT3B, LOC126863014 1 0 1 0 0 0 0 0 0 0 0 2
DYNC1H1 0 1 1 0 0 0 0 0 0 0 0 2
EDAR, RANBP2 1 1 0 0 0 0 0 0 0 0 0 2
EMD, FLNA 0 0 2 0 0 0 0 0 0 0 0 2
ERCC8, NDUFAF2 1 0 0 0 1 0 0 0 0 0 0 2
ETFDH 0 0 2 0 0 0 0 0 0 0 0 2
FBN1 0 2 0 0 0 0 0 0 0 0 0 2
FDX2, FDX2-ZGLP1, LOC130063486 0 0 1 0 1 0 0 0 0 0 0 2
FGFRL1 0 0 2 0 0 0 0 0 0 0 0 2
FKRP, LOC130064775, STRN4 1 0 1 0 0 0 0 0 0 0 0 2
GNE, LOC130001749 0 0 1 1 0 0 0 0 0 0 0 2
GOSR2, LRRC37A2 0 0 0 0 0 0 0 0 0 0 2 2
HGSNAT, POMK 0 0 2 0 0 0 0 0 0 0 0 2
HSPB8 1 1 0 0 0 0 0 0 0 0 0 2
LARGE1, LOC130067280 0 0 0 0 2 0 0 0 0 0 0 2
LARS2 0 1 1 0 0 0 0 0 0 0 0 2
LDB3, LOC110121486, LOC130004243, LOC132089876 0 0 2 0 0 0 0 0 0 0 0 2
LOC126862156, TRIP4 0 0 1 0 1 0 0 0 0 0 0 2
LOC129936729, NDUFAF3 0 0 2 0 0 0 0 0 0 0 0 2
LOC129936730, NDUFAF3 0 0 2 0 0 0 0 0 0 0 0 2
LOC129936731, NDUFAF3 0 0 2 0 0 0 0 0 0 0 0 2
LOC129992584, LOC129992585, SGCB 1 0 1 0 0 0 0 0 0 0 0 2
LOC129995449, SQSTM1 0 0 2 0 0 0 0 0 0 0 0 2
LOC130000896, RRM2B 0 1 1 0 0 0 0 0 0 0 0 2
LOC130009363, LOC130009364, SGCG 2 0 0 0 0 0 0 0 0 0 0 2
LOC130067861, SCO2 0 0 2 0 0 0 0 0 0 0 0 2
LOC130067861, SCO2, TYMP 0 0 0 0 2 0 0 0 0 0 0 2
LZTR1 1 0 1 0 0 0 0 0 0 0 0 2
MIPEP, PCOTH, SACS, SGCG, TNFRSF19 2 0 0 0 0 0 0 0 0 0 0 2
MRPL36, NDUFS6 0 0 2 0 0 0 0 0 0 0 0 2
MT-ATP6 1 1 0 0 0 0 0 0 0 0 0 2
MYH10 0 0 2 0 0 0 0 0 0 0 0 2
MYO15B 0 0 2 0 0 0 0 0 0 0 0 2
MYOT 0 0 2 0 0 0 0 0 0 0 0 2
NDUFAF5 0 0 1 0 0 0 0 0 0 0 1 2
NDUFS8, TCIRG1 0 0 0 1 1 0 0 0 0 0 0 2
PGAP2, RHOG, STIM1 0 0 2 0 0 0 0 0 0 0 0 2
PMM2 0 2 0 0 0 0 0 0 0 0 0 2
PYGM 1 0 1 0 0 0 0 0 0 0 0 2
RAPSN 0 2 0 0 0 0 0 0 0 0 0 2
RBCK1, TBC1D20 1 0 1 0 0 0 0 0 0 0 0 2
RRM1 2 0 0 0 0 0 0 0 0 0 0 2
SLIRP 0 2 0 0 0 0 0 0 0 0 0 2
TLL2 0 0 2 0 0 0 0 0 0 0 0 2
TMEM126B 1 0 1 0 0 0 0 0 0 0 0 2
TNNC2 2 0 0 0 0 0 0 0 0 0 0 2
AATF, ACACA, C17orf78, DDX52, DUSP14, HNF1B, LHX1, LHX1-DT, LOC105371756, LOC110120863, LOC112529910, LOC125177462, LOC125177463, LOC126862543, LOC126862544, LOC126862545, LOC126862546, LOC126862547, LOC126862548, LOC126862549, LOC129390866, LOC129390867, MIR2909, MIR378J, SNORA90, SYNRG, TADA2A 0 0 1 0 0 0 0 0 0 0 0 1
ABCA1, FKTN, FSD1L, SLC44A1, TAL2, TMEM38B 0 0 1 0 0 0 0 0 0 0 0 1
ABCB10, ACTA1, AGT, ARV1, C1orf131, C1orf198, CAPN9, COG2, DISC1, DISC2, EGLN1, EXOC8, FAM89A, GALNT2, GNPAT, NUP133, PGBD5, SPRTN, TAF5L, TRIM67, TSNAX, TTC13, URB2 0 0 1 0 0 0 0 0 0 0 0 1
ABCB6, ANKZF1, ATG9A, BCS1L, CATIP, CDK5R2, CFAP65, CNOT9, CNPPD1, CRYBA2, CTDSP1, CYP27A1, DES, DNAJB2, DNPEP, FEV, GLB1L, IHH, MIR26B, MIR375, NHEJ1, PLCD4, PNKD, PRKAG3, PTPRN, RESP18, RETREG2, RNF25, SLC11A1, SLC23A3, STK16, STK36, TMBIM1, TTLL4, TUBA4A, USP37, VIL1, WNT10A, WNT6, ZFAND2B, ZNF142 1 0 0 0 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 0 0 0 0 0 1
ABHD5, ACKR2, ANO10, CCDC13, CCK, CTNNB1, CYP8B1, GASK1A, HHATL, HIGD1A, KLHL40, KRBOX1, LYZL4, NKTR, POMGNT2, SEC22C, SNRK, SS18L2, TRAK1, ULK4, VIPR1, ZBTB47, ZNF662 0 0 1 0 0 0 0 0 0 0 0 1
ABL1, AIF1L, EXOSC2, FAM78A, FIBCD1, LAMC3, NUP214, PLPP7, POMT1, PRDM12, PRRC2B, QRFP 0 0 1 0 0 0 0 0 0 0 0 1
ACKR3, AGAP1, AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ASB18, ATG4B, BOK, CAPN10, COL6A3, COPS8, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GBX2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, IQCA1, KIF1A, KLHL30, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 1 0 0 0 0 0 0 0 0 0 0 1
ACKR3, AGXT, ANKMY1, ANO7, AQP12A, AQP12B, ASB1, ATG4B, BOK, CAPN10, COL6A3, COPS8, COPS9, D2HGDH, DTYMK, DUSP28, ERFE, ESPNL, FARP2, GAL3ST2, GPC1, GPR35, HDAC4, HDLBP, HES6, ILKAP, ING5, KIF1A, KLHL30, LRRFIP1, MAB21L4, MIR149, MLPH, MTERF4, NDUFA10, NEU4, OR6B2, OR6B3, OTOS, PASK, PDCD1, PER2, PPP1R7, PRLH, PRR21, RAB17, RAMP1, RBM44, RNPEPL1, SCLY, SEPTIN2, SNED1, STK25, THAP4, TRAF3IP1, TWIST2, UBE2F 1 0 0 0 0 0 0 0 0 0 0 1
ACKR3, COL6A3, COPS8, COPS8-DT, LOC110121230, LOC112840913, LOC122889010, LOC122889011, LOC126806571, LOC126806572, LOC126806573, LOC129935916, LOC129935917, LOC93463 0 0 1 0 0 0 0 0 0 0 0 1
ADCK5, BOP1, CCDC166, CPSF1, CYC1, CYP11B1, CYP11B2, DGAT1, EEF1D, EPPK1, EXOSC4, FAM83H, FBXL6, FOXH1, GFUS, GLI4, GML, GPAA1, GPIHBP1, GPT, GRINA, GSDMD, HGH1, HSF1, KIFC2, LY6D, LY6E, LY6H, LY6S, LYNX1, LYPD2, MAF1, MAFA, MAPK15, MFSD3, MIR1234, MIR661, MROH1, MROH6, NAPRT, NRBP2, OPLAH, PARP10, PLEC, PPP1R16A, PUF60, PYCR3, RECQL4, RHPN1, SCRIB, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SLURP1, SPATC1, TIGD5, TMEM249, TONSL, TOP1MT, VPS28, ZC3H3, ZFP41, ZFTRAF1, ZNF623, ZNF696, ZNF707 0 0 1 0 0 0 0 0 0 0 0 1
ADCK5, BOP1, CCDC166, CPSF1, CYC1, DGAT1, EEF1D, EPPK1, EXOSC4, FAM83H, FBXL6, FOXH1, GFUS, GLI4, GPAA1, GPIHBP1, GRINA, GSDMD, HGH1, HSF1, KIFC2, MAF1, MAFA, MAPK15, MIR1234, MIR661, MROH1, MROH6, NAPRT, NRBP2, OPLAH, PARP10, PLEC, PUF60, PYCR3, RHPN1, SCRIB, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SPATC1, TIGD5, TMEM249, TONSL, TOP1MT, VPS28, ZC3H3, ZFP41, ZFTRAF1, ZNF623, ZNF696, ZNF707 1 0 0 0 0 0 0 0 0 0 0 1
ADCK5, BOP1, CPSF1, CYC1, DGAT1, EXOSC4, FBXL6, FOXH1, GPAA1, GRINA, HGH1, HSF1, KIFC2, MAF1, MIR1234, MIR661, MROH1, OPLAH, PARP10, PLEC, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SPATC1, TMEM249, TONSL, VPS28, ZFTRAF1 0 0 1 0 0 0 0 0 0 0 0 1
ADCY5 0 0 1 0 0 0 0 0 0 0 0 1
ADD1, DOK7, GRK4, HGFAC, HTT, MFSD10, MSANTD1, NOP14, RGS12, SH3BP2 1 0 0 0 0 0 0 0 0 0 0 1
ADGRF3, DRC1, HADHB, OTOF, SELENOI 1 0 0 0 0 0 0 0 0 0 0 1
ADGRG4, BRS3, CD40LG, FHL1, HTATSF1, MAP7D3, VGLL1 1 0 0 0 0 0 0 0 0 0 0 1
ADM2, CHKB, CIMAP1B, CPT1B, KLHDC7B, LMF2, MIOX, NCAPH2, SBF1, SCO2, SYCE3, TYMP 1 0 0 0 0 0 0 0 0 0 0 1
ADSS1, LOC130056631 0 0 1 0 0 0 0 0 0 0 0 1
AGTR1, ANKUB1, CLRN1, COMMD2, CP, CPA3, CPB1, EIF2A, ERICH6, GPR171, GPR87, GYG1, HLTF, HPS3, IGSF10, MED12L, MINDY4B, P2RY12, P2RY13, P2RY14, PFN2, RNF13, SELENOT, SERP1, SIAH2, TM4SF1, TM4SF18, TM4SF4, TSC22D2, WWTR1 1 0 0 0 0 0 0 0 0 0 0 1
AK1, BBLN, CDK9, CFAP157, CIZ1, DPM2, EEIG1, ENG, FPGS, LCN2, LOC102723566, LOC106783495, LOC108281127, LOC113839508, LOC113839509, LOC113839510, LOC113839511, LOC113839512, LOC113839513, LOC113839514, LOC113839515, LOC114827831, LOC116216099, LOC116216100, LOC124310649, LOC124310650, LOC124310651, LOC126860771, LOC129390114, LOC130002649, LOC130002650, LOC130002651, LOC130002652, LOC130002653, LOC130002654, LOC130002655, LOC130002656, LOC130002657, LOC130002658, LOC130002659, LOC130002660, LOC130002661, LOC130002662, LOC130002663, LOC130002664, LOC130002665, LOC130002666, LOC130002667, LOC130002668, LOC130002669, LOC130002670, LOC130002671, LOC130002672, LOC130002673, LOC130002674, LOC130002675, LOC130002676, LOC130002677, LOC130002678, LOC130002679, LOC130002680, LOC130002681, LOC130002682, LOC130002683, LOC130002684, LOC130002685, LOC130002686, LOC130002687, LOC130002688, LOC130002689, LOC130002690, LOC130002691, LOC130002692, LOC130002693, LOC130002694, LRSAM1, MIR2861, MIR3911, MIR3960, MIR4672, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6, STXBP1, TOR2A, TTC16 0 0 1 0 0 0 0 0 0 0 0 1
AK1, BBLN, CDK9, CFAP157, CIZ1, DPM2, EEIG1, ENG, FPGS, LCN2, LRSAM1, MIR2861, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16 1 0 0 0 0 0 0 0 0 0 0 1
AKAP3, ANO2, DYRK4, FERRY3, FGF23, FGF6, GALNT8, KCNA1, KCNA5, KCNA6, NDUFA9, NTF3, RAD51AP1, VWF 0 0 1 0 0 0 0 0 0 0 0 1
AKAP3, CCND2, DYRK4, FERRY3, FGF23, FGF6, GALNT8, KCNA1, KCNA5, KCNA6, NDUFA9, RAD51AP1, TIGAR 0 0 1 0 0 0 0 0 0 0 0 1
ALG14 1 0 0 0 0 0 0 0 0 0 0 1
ALG14, LOC129930989 1 0 0 0 0 0 0 0 0 0 0 1
AMT, ARIH2, ARIH2OS, C3orf62, CCDC71, CIMIP7, DAG1, DALRD3, GPX1, IHO1, IMPDH2, KLHDC8B, LAMB2, MIR191, NDUFAF3, NICN1, P4HTM, QARS1, QRICH1, RHOA, SLC25A20, TCTA, USP19, USP4, WDR6 1 0 0 0 0 0 0 0 0 0 0 1
ANKDD1A, APH1B, CA12, CIAO2A, CILP, CLPX, CSNK1G1, DAPK2, DENND4A, DPP8, FBXL22, HACD3, HERC1, IGDCC3, IGDCC4, INTS14, KBTBD13, LACTB, MEGF11, MTFMT, OAZ2, PARP16, PCLAF, PDCD7, PIF1, PLEKHO2, PPIB, RAB11A, RAB8B, RASL12, RBPMS2, RNU5A-1, RPS27L, SLC24A1, SLC51B, SNX1, SNX22, SPG21, TRIP4, UBAP1L, USP3, ZNF609 0 1 0 0 0 0 0 0 0 0 0 1
ANKMY2, BZW2, CRPPA, LOC129998004, LOC129998005, LOC129998006, LRRC72, SOSTDC1 1 0 0 0 0 0 0 0 0 0 0 1
ANKRD18B, APTX, AQP3, AQP7, ARHGEF39, ARID3C, ATOSB, B4GALT1, BAG1, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CHMP5, CIMIP2B, CLTA, CNTFR, CREB3, DCAF12, DCTN3, DNAI1, DNAJA1, DNAJB5, ENHO, EXOSC3, FAM219A, FAM221B, FANCG, FBXO10, FRMPD1, GALT, GBA2, GLIPR2, GNE, GRHPR, HINT2, HRCT1, IL11RA, KIF24, MELK, MSMP, MYORG, NDUFB6, NFX1, NOL6, NPR2, NUDT2, OR13J1, OR2S2, PAX5, PHF24, PIGO, POLR1E, PRSS3, RECK, RGP1, RIGI, RMRP, RNF38, RPP25L, RUSC2, SIGMAR1, SIT1, SMU1, SPAG8, SPATA31F1, SPATA31G1, SPINK4, SPMIP6, STOML2, TAF1L, TESK1, TLN1, TMEM215, TMEM8B, TOMM5, TOPORS, TPM2, TRMT10B, UBAP1, UBAP2, UBE2R2, UNC13B, VCP, ZBTB5, ZCCHC7 0 0 1 0 0 0 0 0 0 0 0 1
ANKRD18B, APTX, AQP3, AQP7, ARID3C, B4GALT1, BAG1, CCL19, CCL21, CCL27, CHMP5, CNTFR, DCAF12, DCTN3, DNAI1, DNAJA1, DNAJB5, ENHO, FAM219A, GALT, IL11RA, KIF24, MYORG, NDUFB6, NFX1, NOL6, NUDT2, PHF24, PRSS3, RIGI, RPP25L, SIGMAR1, SMU1, SPATA31F1, SPATA31G1, SPINK4, SPMIP6, TAF1L, TMEM215, TOPORS, UBAP1, UBAP2, UBE2R2, VCP 0 0 1 0 0 0 0 0 0 0 0 1
ANKRD54, BAIAP2L2, C1QTNF6, C22orf23, CARD10, CBY1, CDC42EP1, CIMIP4, CSF2RB, CSNK1E, CYTH4, DDX17, DMC1, EIF3L, ELFN2, FAM227A, GALR3, GCAT, GGA1, GTPBP1, H1-0, IFT27, IL2RB, JOSD1, KCNJ4, KCTD17, KDELR3, LGALS1, LGALS2, MAFF, MFNG, MICALL1, MIR659, MPST, NCF4, NOL12, PDXP, PICK1, PLA2G6, POLR2F, PVALB, RAC2, SH3BP1, SLC16A8, SOX10, SSTR3, SUN2, TMEM184B, TMPRSS6, TOMM22, TRIOBP, TST 0 0 1 0 0 0 0 0 0 0 0 1
ANO5, FANCF, SLC17A6 0 0 1 0 0 0 0 0 0 0 0 1
ANO5, LOC130005441 0 0 1 0 0 0 0 0 0 0 0 1
ANTXR2 0 0 0 0 1 0 0 0 0 0 0 1
APOB 0 0 1 0 0 0 0 0 0 0 0 1
APOBR, ATP2A1, ATXN2L, CD19, CLN3, EIF3C, IL27, LAT, NFATC2IP, NUPR1, RABEP2, SGF29, SH2B1, SPNS1, SULT1A1, SULT1A2, TUFM 1 0 0 0 0 0 0 0 0 0 0 1
ARHGAP18, LAMA2, TMEM244 1 0 0 0 0 0 0 0 0 0 0 1
ARHGAP4, AVPR2, EMD, FLNA, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 0 0 0 0 0 1
ARHGEF10 0 0 1 0 0 0 0 0 0 0 0 1
ARID3C, CCL19, CCL21, CCL27, CNTFR, DCTN3, DNAI1, DNAJB5, ENHO, GALT, IL11RA, PHF24, RPP25L, SIGMAR1, SPATA31F1, SPATA31G1, VCP 0 0 1 0 0 0 0 0 0 0 0 1
ASCC1 1 0 0 0 0 0 0 0 0 0 0 1
ASTN2 0 0 1 0 0 0 0 0 0 0 0 1
ATP13A4 0 0 0 0 1 0 0 0 0 0 0 1
ATP2A1, ATXN2L, LOC112340393, LOC129390780, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, MIR4721, SH2B1, TUFM 1 0 0 0 0 0 0 0 0 0 0 1
ATP2A1, LOC130058740, LOC130058741 1 0 0 0 0 0 0 0 0 0 0 1
ATP2B3 1 0 0 0 0 0 0 0 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 0 0 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FLNA, MECP2, OPN1LW, OPN1MW, OPN1MW2, RPL10, TAFAZZIN, TEX28, TKTL1 0 0 1 0 0 0 0 0 0 0 0 1
ATP6AP1, DNASE1L1, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 0 0 0 0 0 1
ATP6V0A4 0 0 0 0 1 0 0 0 0 0 0 1
ATP6V1F, CALU, CCDC136, FLNC, IRF5, KCP, OPN1SW, TNPO3 0 0 1 0 0 0 0 0 0 0 0 1
ATP6V1F, FLNC, KCP 1 0 0 0 0 0 0 0 0 0 0 1
B4GAT1, BBS1, BRMS1, DPP3, MRPL11, NPAS4, PELI3, RIN1, SLC29A2 0 0 1 0 0 0 0 0 0 0 0 1
BIN1, CYP27C1, ERCC3, GPR17, IWS1, LIMS2, MAP3K2, MYO7B, PROC 0 0 1 0 0 0 0 0 0 0 0 1
BIN1, LOC112806045, LOC129934710, LOC129934711, LOC129934712, LOC129934713, LOC129934714 0 0 1 0 0 0 0 0 0 0 0 1
BMPR1A, LDB3 0 0 1 0 0 0 0 0 0 0 0 1
BPIFC, C22orf42, DEPDC5, FBXO7, LARGE1, RFPL2, RFPL3, RFPL3S, RTCB, SLC5A1, SLC5A4, SYN3, TIMP3, YWHAH 0 0 1 0 0 0 0 0 0 0 0 1
CALM3, DACT3, FKRP, GNG8, PRKD2, PTGIR, STRN4 0 0 1 0 0 0 0 0 0 0 0 1
CAPN3, LOC130056920, LOC130056921 1 0 0 0 0 0 0 0 0 0 0 1
CAV3, SSUH2 1 0 0 0 0 0 0 0 0 0 1 1
CCDC141, FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 0 1 0 0 0 0 0 0 0 0 1
CCDC174, LOC126806614 1 0 0 0 0 0 0 0 0 0 0 1
CD46 0 0 0 1 0 0 0 0 0 0 0 1
CD99L2, GPR50, HMGB3, MTM1, MTMR1, VMA21 0 0 1 0 0 0 0 0 0 0 0 1
CDK8 1 0 0 0 0 0 0 0 0 0 0 1
CDRT4, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 0 0 0 0 0 0 1
CHKB, CHKB-CPT1B, LOC130067883 0 0 0 0 1 0 0 0 0 0 0 1
CHN1 0 1 0 0 0 0 0 0 0 0 0 1
CHRND 1 0 0 0 0 0 0 0 0 0 0 1
CLCN5 0 0 0 0 1 0 0 0 0 0 0 1
CLN8 0 0 0 0 1 0 0 0 0 0 0 1
CNBP, LOC108644431 1 0 0 0 0 0 0 0 0 0 0 1
COA5 1 0 0 0 0 0 0 0 0 0 0 1
COASY 1 0 0 0 0 0 0 0 0 0 0 1
COL12A1, COX7A2, FILIP1, IMPG1, MYO6, SENP6, TMEM30A 0 0 1 0 0 0 0 0 0 0 0 1
COL1A1, SGCA 0 0 1 0 0 0 0 0 0 0 0 1
COL6A3, MLPH 0 0 1 0 0 0 0 0 0 0 0 1
COPS9, GPC1, HDAC4, LOC100128563, NDUFA10, OR6B2, OR6B3, OTOS, PRR21 1 0 0 0 0 0 0 0 0 0 0 1
CPT2 0 0 1 0 0 0 0 0 0 0 0 1
CRX 0 0 0 0 1 0 0 0 0 0 0 1
CSNK2A1, RBCK1, SCRT2, SLC52A3, SRXN1, TBC1D20, TCF15 0 0 1 0 0 0 0 0 0 0 0 1
CTNNA1 0 0 1 0 0 0 0 0 0 0 0 1
CYP1B1 0 0 1 0 0 0 0 0 0 0 0 1
DCAF8L1, DCAF8L2, DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB10, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 0 0 0 0 1
DEPDC5 0 0 1 0 0 0 0 0 0 0 0 1
DES, LOC110121267 1 0 0 0 0 0 0 0 0 0 0 1
DES, SPEG 0 0 1 0 0 0 0 0 0 0 0 1
DLGAP1 0 0 1 0 0 0 0 0 0 0 0 1
DMD, FTHL17 0 0 0 0 1 0 0 0 0 0 0 1
DMD, FTHL17, GK, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 0 0 0 0 1
DMD, LOC121627963, LOC125446277, LOC129391296, LOC129391297, LOC130068083, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MIR3915, MIR548F5 1 0 0 0 0 0 0 0 0 0 0 1
DMD, LOC121627963, LOC125446277, LOC129391296, LOC129391297, LOC130068084, LOC130068085, LOC130068086, LOC130068087, LOC130068088, LOC130068089, MIR3915, MIR548F5 0 0 1 0 0 0 0 0 0 0 0 1
DMD, LOC121627963, LOC130068086, LOC130068087, LOC130068088, LOC130068089 1 0 0 0 0 0 0 0 0 0 0 1
DMD, LOC129391296, LOC129391297, MIR3915, MIR548F5 0 1 0 0 0 0 0 0 0 0 0 1
DMD, LOC129391297, MIR3915, MIR548F5 1 0 0 0 0 0 0 0 0 0 0 1
DMD, LOC130068083 1 0 0 0 0 0 0 0 0 0 0 1
DMPK, LOC107075317 0 0 1 0 0 0 0 0 0 0 0 1
DNAAF3, LOC130065089, LOC130065090, LOC130065091, LOC130065092, LOC130065093, LOC130065094, LOC130065095, LOC130065096, LOC130065097, MIR6802, MIR6803, MIR6804, PPP6R1, PTPRH, SYT5, TMEM86B, TNNI3, TNNT1 0 0 1 0 0 0 0 0 0 0 0 1
DNAAF5, FAM20C, PDGFA, PRKAR1B, SUN1 0 0 1 0 0 0 0 0 0 0 0 1
DNAAF5, SUN1 0 0 1 0 0 0 0 0 0 0 0 1
DNAJB5 0 1 0 0 0 0 0 0 0 0 0 1
DNASE1L1, EMD, FLNA, RPL10, TAFAZZIN 0 0 1 0 0 0 0 0 0 0 0 1
DPAGT1 1 0 0 0 0 0 0 0 0 0 0 1
DSP 0 1 0 0 0 0 0 0 0 0 0 1
DTHD1 0 0 1 0 0 0 0 0 0 0 0 1
DYSF, LOC110121121 1 0 0 0 0 0 0 0 0 0 1 1
DYSF, LOC122787136 1 0 0 0 0 0 0 0 0 0 0 1
EMD, LOC107988033, LOC130068862, LOC130068863, LOC130068864 1 0 0 0 0 0 0 0 0 0 0 1
EMD, LOC130068864 0 0 1 0 0 0 0 0 0 0 0 1
EMILIN2, LPIN2, MYL12A, MYL12B, MYOM1, SMCHD1, TGIF1 1 0 0 0 0 0 0 0 0 0 0 1
EMILIN2, LPIN2, MYOM1, SMCHD1 0 0 1 0 0 0 0 0 0 0 0 1
ESR1, FBXO5, LINC02840, LOC105378066, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC129389688, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, MTRF1L, MYCT1, RGS17, SYNE1, VIP 1 0 0 0 0 0 0 0 0 0 0 1
ESR1, LOC129389688, LOC129997477, LOC129997478, SYNE1 0 0 1 0 0 0 0 0 0 0 0 1
EXOSC3 1 0 0 0 0 0 0 0 0 0 0 1
FAM111B 0 1 0 0 0 0 0 0 0 0 0 1
FARS2, LOC126859565 0 1 0 0 0 0 0 0 0 0 0 1
FBXL4 0 1 0 0 0 0 0 0 0 0 0 1
FBXO5, MTRF1L, MYCT1, OPRM1, RGS17, SYNE1, VIP 1 0 0 0 0 0 0 0 0 0 0 1
FGF21, LOC109279247 0 0 1 0 0 0 0 0 0 0 0 1
FKBP14 1 0 0 0 0 0 0 0 0 0 0 1
FKTN, FSD1L, LOC130002286, LOC130002287 1 0 0 0 0 0 0 0 0 0 0 1
FNTA, HOOK3, LOC129389983, LOC130000310, LOC130000311, LOC130000312, LOC130000313, LOC130000314, LOC130000315, MIR4469, POMK, RNF170, THAP1 0 0 1 0 0 0 0 0 0 0 0 1
FOXP3 1 0 0 0 0 0 0 0 0 0 0 1
FREM1 0 0 1 0 0 0 0 0 0 0 0 1
FRMD1 0 0 1 0 0 0 0 0 0 0 0 1
GAMT, NDUFS7 0 0 0 0 1 0 0 0 0 0 0 1
GAS7, GLP2R, MYH1, MYH13, MYH2, MYH4, MYH8, RCVRN 1 0 0 0 0 0 0 0 0 0 0 1
GIPC1 1 0 0 0 0 0 0 0 0 0 0 1
GLI3 0 0 0 0 0 0 0 0 1 0 0 1
HNRNPA1, LOC117038776 0 0 1 0 0 0 0 0 0 0 0 1
HPD, MORN3, ORAI1, RHOF, SETD1B, TMEM120B 1 0 0 0 0 0 0 0 0 0 0 1
HRAS, LRRC56 0 0 1 0 0 0 0 0 0 0 0 1
INSR 0 0 0 1 0 0 0 0 0 0 0 1
ISCU, LOC130008688 0 0 0 0 1 0 0 0 0 0 0 1
ITGA7, TMT1B 0 0 0 0 1 0 0 0 0 0 0 1
KBTBD13, MTFMT, RASL12, SLC51B, SPG21 0 0 1 0 0 0 0 0 0 0 0 1
KCNA1, KCNA5 0 0 1 0 0 0 0 0 0 0 0 1
KIF16B 0 0 1 0 0 0 0 0 0 0 0 1
KIF1A 0 0 1 0 0 0 0 0 0 0 0 1
KIF21A, LOC130007673 0 0 1 0 0 0 0 0 0 0 0 1
KIF5B 1 0 0 0 0 0 0 0 0 0 0 1
L1CAM 0 1 0 0 0 0 0 0 0 0 0 1
LAMA1 0 0 1 0 0 0 0 0 0 0 0 1
LAMA2, LOC123864065, LOC126859783, LOC126859784 1 0 0 0 0 0 0 0 0 0 0 1
LDB3, LOC130004243 0 0 1 0 0 0 0 0 0 0 0 1
LDLRAP1, MAN1C1, SELENON 1 0 0 0 0 0 0 0 0 0 0 1
LINC00362, LOC130009362, LOC132090179, SGCG 0 0 1 0 0 0 0 0 0 0 0 1
LINC00362, LOC132090179, SGCG 1 0 0 0 0 0 0 0 0 0 0 1
LOC101927055, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, TTN 0 0 1 0 0 0 0 0 0 0 0 1
LOC112081391, LOC121832782, LOC121832783, LOC124418420, LOC124418421, LOC130005165, LOC130005166, LOC130005167, LOC130005168, LOC130005169, LOC130005170, LOC130005171, LOC130005172, LOC130005173, STIM1 1 0 0 0 0 0 0 0 0 0 0 1
LOC112081413, NDUFS8 0 0 0 1 0 0 0 0 0 0 0 1
LOC112577517, LOC129932003, TOR1AIP1 1 0 0 0 0 0 0 0 0 0 0 1
LOC112577517, TOR1AIP1, TOR1AIP2 1 0 0 0 0 0 0 0 0 0 0 1
LOC114827851, MYH6, MYH7 0 0 0 1 0 0 0 0 0 0 0 1
LOC114827851, MYH7 0 0 0 1 0 0 0 0 0 0 0 1
LOC120893173, LOC122149342, LOC122149343, LOC122149344, LOC126805978, LOC129388729, PPP1R12B, SYT2 0 0 1 0 0 0 0 0 0 0 0 1
LOC121331314, LOC130001337, LOC130001338, LOC130001339, LOC130001340, LOC130001341, LOC130001342, LOC130001343, LOC130001344, PLEC 0 1 0 0 0 0 0 0 0 0 0 1
LOC121587601, SGCA 0 0 1 0 0 0 0 0 0 0 0 1
LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, PLEKHA3, TTN 0 1 0 0 0 0 0 0 0 0 0 1
LOC126806420, LOC126806421, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, TTN 0 1 0 0 0 0 0 0 0 0 0 1
LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC129388955, TTN 1 0 0 0 0 0 0 0 0 0 0 1
LOC126806425, LOC126806426, LOC126806427, TTN 0 0 1 0 0 0 0 0 0 0 0 1
LOC126806428, LOC126806429, LOC126806430, LOC126806431, TTN 0 0 1 0 0 0 0 0 0 0 0 1
LOC126862500, MYH1, MYH2, MYHAS 0 0 1 0 0 0 0 0 0 0 0 1
LOC129388955, TTN 0 0 1 0 0 0 0 0 0 0 0 1
LOC129994754, MATR3 0 0 0 1 0 0 0 0 0 0 0 1
LOC129994755, MATR3, SNHG4 0 0 1 0 0 0 0 0 0 0 0 1
LOC130000954, LRP12 1 0 0 0 0 0 0 0 0 0 0 1
LOC130001338, PLEC 0 0 0 1 0 0 0 0 0 0 0 1
LOC130001690, VCP 0 0 0 1 0 0 0 0 0 0 0 1
LOC130007527, PYROXD1 0 0 0 0 1 0 0 0 0 0 0 1
LOC130009110, RILPL1 1 0 0 0 0 0 0 0 0 0 0 1
LOC130009362, SGCG 1 0 0 0 0 0 0 0 0 0 0 1
LOC130064350, RYR1 0 0 1 0 0 0 0 0 0 0 0 1
LOC130065089, TNNI3, TNNT1 1 0 0 0 0 0 0 0 0 0 0 1
LOC130065264, RBCK1 0 0 1 0 0 0 0 0 0 0 0 1
LOC130068372, LOC130068373, LOC130068374, ZC3H12B, ZC4H2 1 0 0 0 0 0 0 0 0 0 0 1
LOC130068796, MTM1 1 0 0 0 0 0 0 0 0 0 0 1
LPA 0 0 0 1 0 0 0 0 0 0 0 1
LRIF1 1 0 0 0 0 0 0 0 0 0 0 1
LURAP1, POMGNT1 1 0 0 0 0 0 0 0 0 0 0 1
MB 1 0 0 0 0 0 0 0 0 0 0 1
MCM3AP 0 0 1 0 0 0 0 0 0 0 0 1
MEFV 0 0 0 0 1 0 0 0 0 0 0 1
MET 0 0 1 0 0 0 0 0 0 0 0 1
MFF 0 1 0 0 0 0 0 0 0 0 0 1
MIR208B, MYH7 0 0 1 0 0 0 0 0 0 0 0 1
MIR661, PLEC 0 0 1 0 0 0 0 0 0 0 0 1
MIR6766, POLG 0 0 0 0 1 0 0 0 0 0 0 1
MN1 0 0 1 0 0 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-ND1, MT-ND2, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TF, MT-TI, MT-TK, MT-TL1, MT-TM, MT-TN, MT-TQ, MT-TS1, MT-TV, MT-TW, MT-TY 1 1 0 0 0 0 0 0 0 0 1 1
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 0 0 0 0 0 0 0 0 0 0 1 1
MT-CO1, MT-TS1 1 0 0 0 0 0 0 0 0 0 0 1
MT-CO2 0 1 0 0 0 0 0 0 0 0 0 1
MT-ND1, MT-TL1 1 0 0 0 0 0 0 0 0 0 1 1
MT-ND2 0 1 0 0 0 0 0 0 0 0 0 1
MT-ND3 0 1 0 0 0 0 0 0 0 0 0 1
MT-ND4 1 0 0 0 0 0 0 0 0 0 0 1
MUC5B 0 0 0 0 0 0 1 0 0 0 0 1
MVK 0 0 0 0 1 0 0 0 0 0 0 1
MYF6, OTOGL, PPP1R12A, PTPRQ 0 0 1 0 0 0 0 0 0 0 0 1
MYH1, MYHAS 0 0 1 0 0 0 0 0 0 0 0 1
MYH2, MYH3, SCO1 0 0 1 0 0 0 0 0 0 0 0 1
MYH6, MYH7 0 0 0 0 1 0 0 0 0 0 0 1
MYO15A 0 0 0 1 0 0 0 0 0 0 0 1
NDUFB11 1 0 0 0 0 0 0 0 0 0 0 1
NES 0 0 1 0 0 0 0 0 0 0 0 1
NF1 0 0 0 0 1 0 0 0 0 0 0 1
NIPBL 0 1 0 0 0 0 0 0 0 0 0 1
NOTCH2NLC 1 0 0 0 0 0 0 0 0 0 0 1
OPA1 0 1 0 0 0 0 0 0 0 0 0 1
PABPN1 1 0 0 0 0 0 0 0 0 0 0 1
PAX3 0 0 1 0 0 0 0 0 0 0 0 1
PEPD 0 1 0 0 0 0 0 0 0 0 0 1
PGAP3 1 0 0 0 0 0 0 0 0 0 0 1
PIEZO2 0 0 1 0 0 0 0 0 0 0 0 1
PIK3CA 1 0 0 0 0 0 0 0 0 0 0 1
PKP2 0 0 1 0 0 0 0 0 0 0 0 1
PLOD1 0 0 1 0 0 0 0 0 0 0 0 1
PMS2 1 0 0 0 0 0 0 0 0 0 0 1
PNPLA2 0 0 1 0 0 0 0 0 0 0 0 1
POLRMT 0 0 1 0 0 0 0 0 0 0 0 1
POMT1, UCK1 0 1 0 0 0 0 0 0 0 0 0 1
PPT1 0 0 0 0 1 0 0 0 0 0 0 1
RANBP2 0 0 1 0 0 0 0 0 0 0 0 1
RILPL1 0 0 1 0 0 0 0 0 0 0 0 1
RNF31 0 0 1 0 0 0 0 0 0 0 0 1
ROBO4 0 0 0 0 0 0 0 0 1 0 0 1
SFTPC 0 1 0 0 0 0 0 0 0 0 0 1
SLC25A42 0 1 0 0 0 0 0 0 0 0 0 1
SLC2A1 0 0 1 0 0 0 0 0 0 0 0 1
SNTA1 0 0 1 0 0 0 0 0 0 0 0 1
SRPK3 1 0 0 0 0 0 0 0 0 0 0 1
TP63 0 0 1 0 0 0 0 0 0 0 0 1
TSFM 0 0 1 0 0 0 0 0 0 0 0 1
TUBA1B 0 0 1 0 0 0 0 0 0 0 0 1
TUBB 0 0 1 0 0 0 0 0 0 0 0 1
UTRN 0 1 0 0 0 0 0 0 0 0 0 1
WFS1 1 0 0 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 363
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association pathogenic, low penetrance risk factor other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 6583 3595 38370 48991 5263 0 0 1 0 0 0 102800
Illumina Laboratory Services, Illumina 25 36 5803 1543 3414 0 0 0 0 0 0 9147
Fulgent Genetics, Fulgent Genetics 233 226 3298 661 110 0 0 0 0 0 0 4528
Natera, Inc. 220 60 2641 858 306 0 0 0 0 0 0 4085
Baylor Genetics 713 882 615 3 0 0 0 0 0 0 0 2209
Genome-Nilou Lab 25 23 393 233 1445 0 0 0 0 0 0 2117
Revvity Omics, Revvity 103 107 1479 31 0 0 0 0 0 0 0 1720
OMIM 1271 0 18 0 0 1 0 0 4 0 0 1294
Counsyl 121 645 445 72 2 0 0 0 0 0 0 1285
Myriad Genetics, Inc. 21 636 12 0 0 0 0 0 0 0 0 669
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 50 38 145 90 249 0 0 0 0 0 0 572
Mendelics 365 50 30 31 66 0 0 0 0 0 0 542
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 269 193 1 0 0 0 0 0 0 0 0 463
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 104 149 150 4 13 0 0 0 0 0 0 418
Neuberg Centre For Genomic Medicine, NCGM 61 105 212 1 0 0 0 0 0 0 0 378
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 112 84 145 8 1 0 0 0 0 0 0 350
GeneReviews 150 0 1 0 11 0 0 0 0 0 178 339
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere 13 268 19 0 0 0 0 0 0 0 0 300
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 70 58 139 4 2 0 0 0 0 0 0 272
MGZ Medical Genetics Center 59 83 108 0 0 0 0 0 0 0 0 250
Genetic Services Laboratory, University of Chicago 175 48 15 0 0 0 0 0 0 0 0 238
Centre for Mendelian Genomics, University Medical Centre Ljubljana 36 52 131 8 5 0 0 0 0 0 0 230
3billion 87 70 47 6 0 0 0 0 0 0 0 210
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 114 80 13 0 0 0 0 0 0 0 0 206
Juno Genomics, Hangzhou Juno Genomics, Inc 55 96 34 0 0 0 0 0 0 0 0 183
Athena Diagnostics 92 4 0 0 72 0 0 0 0 0 0 168
Genomic Research Center, Shahid Beheshti University of Medical Sciences 29 21 100 7 2 0 0 0 0 0 0 159
Institute of Molecular, Cell and Systems Biology, University of Glasgow 146 0 0 0 0 0 0 0 0 0 0 146
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 72 65 9 0 0 0 0 0 0 0 0 145
Institute of Human Genetics, University of Leipzig Medical Center 39 33 64 2 3 0 0 0 0 0 0 141
New York Genome Center 6 15 112 0 0 0 0 0 0 0 0 133
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 0 117 117
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 0 115 115
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 69 22 0 0 0 0 0 0 0 0 0 91
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 32 56 1 0 0 0 0 0 0 0 0 89
Institute of Human Genetics, University of Wuerzburg 11 27 40 2 0 0 0 0 0 0 0 80
Molecular Genetics, Royal Melbourne Hospital 15 4 37 11 12 0 0 0 0 0 0 79
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 6 4 65 3 0 0 0 0 0 0 0 78
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 20 24 25 0 0 0 0 0 0 0 0 69
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 13 31 17 0 0 0 0 0 0 0 0 61
Neuromuscular Research, Maastricht University Medical Centre 48 0 0 0 14 0 0 0 0 0 0 61
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 18 9 27 0 0 0 0 0 0 0 0 54
Centogene AG - the Rare Disease Company 13 11 29 0 0 0 0 0 0 0 0 53
Genetics and Molecular Pathology, SA Pathology 14 14 22 1 0 0 0 0 0 0 0 51
Undiagnosed Diseases Network, NIH 22 16 11 1 0 0 0 0 0 0 0 50
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 9 40 0 0 0 0 0 0 50
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 29 13 8 0 0 0 0 0 0 0 0 49
ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen 18 5 2 6 16 0 0 0 0 0 0 47
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 12 13 21 0 0 0 0 0 0 0 0 46
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 1 14 7 20 0 0 0 0 0 0 44
SIB Swiss Institute of Bioinformatics 4 22 15 0 2 0 0 0 0 0 0 43
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 16 9 16 0 0 0 0 0 0 0 0 41
Harry Perkins Institute Of Medical Research, University Of Western Australia 14 17 9 0 0 0 0 0 0 0 0 40
Solve-RD Consortium 0 40 0 0 0 0 0 0 0 0 0 40
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 37 0 0 0 0 0 0 0 0 0 38
Pars Genome Lab 3 0 16 4 12 0 0 0 0 0 0 35
NeuroMeGen, Hospital Clinico Santiago de Compostela 2 32 0 0 0 0 0 0 0 0 0 34
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 12 4 17 0 0 0 0 0 0 0 0 33
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 10 14 9 0 0 0 0 0 0 0 0 33
Pediatric Department, Peking University First Hospital 12 17 3 0 0 0 0 0 0 0 0 32
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 22 10 0 0 0 0 0 0 0 0 0 32
Center for Genetic Medicine Research, Children's National Medical Center 0 31 0 0 0 0 0 0 0 0 0 31
Phosphorus, Inc. 0 0 18 3 10 0 0 0 0 0 0 31
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 14 8 9 0 0 0 0 0 0 0 0 31
MVZ Medizinische Genetik Mainz 2 8 21 0 0 0 0 0 0 0 0 31
Mayo Clinic Laboratories, Mayo Clinic 2 0 28 0 0 0 0 0 0 0 0 30
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 1 5 20 0 0 0 0 0 0 27
Genomics England Pilot Project, Genomics England 9 18 0 0 0 0 0 0 0 0 0 27
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 24 0 2 0 0 0 0 0 0 0 0 26
Daryl Scott Lab, Baylor College of Medicine 4 4 11 0 0 0 0 0 7 0 0 26
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 9 13 4 0 0 0 0 0 0 0 0 26
deCODE genetics, Amgen 2 24 0 0 0 0 0 0 0 0 0 26
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 11 14 0 0 0 0 0 0 0 0 0 25
Breda Genetics srl 3 5 16 1 0 0 0 0 0 0 0 25
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 23 0 0 0 0 0 0 0 0 25
Institute of Human Genetics, University of Goettingen 0 7 16 1 0 0 0 0 0 0 0 24
Knight Diagnostic Laboratories, Oregon Health and Sciences University 5 6 12 1 0 0 0 0 0 0 0 24
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 15 7 0 0 0 0 0 0 0 0 24
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 16 5 1 0 0 2 0 0 0 0 0 24
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 2 8 5 8 0 0 0 0 0 0 24
KTest Genetics, KTest 18 6 0 0 0 0 0 0 0 0 0 24
Institute of Human Genetics, Cologne University 7 8 6 1 0 0 0 0 0 0 0 22
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 4 3 14 0 0 0 0 0 0 0 0 21
Suma Genomics 10 5 6 0 0 0 0 0 0 0 0 21
KardioGenetik, Herz- und Diabeteszentrum NRW 0 14 7 0 0 0 0 0 0 0 0 21
Genomic Medicine Lab, University of California San Francisco 6 7 7 0 0 0 0 0 0 0 0 20
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 8 9 0 0 0 0 0 0 0 0 20
CSER _CC_NCGL, University of Washington 0 1 8 10 0 0 0 0 0 0 0 19
Johns Hopkins Genomics, Johns Hopkins University 4 6 9 0 0 0 0 0 0 0 0 19
Lifecell International Pvt. Ltd 10 9 0 0 0 0 0 0 0 0 0 19
Institute of Immunology and Genetics Kaiserslautern 10 4 5 0 0 0 0 0 0 0 0 19
Clinical Genomics Laboratory, Washington University in St. Louis 3 6 8 0 0 0 0 0 0 0 0 17
UCLA Clinical Genomics Center, UCLA 4 13 0 0 0 0 0 0 0 0 0 17
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 3 10 3 0 0 0 0 0 0 0 0 16
Center of Excellence for Medical Genomics, Chulalongkorn University 8 3 5 0 0 0 0 0 0 0 0 16
DASA 12 4 0 0 0 0 0 0 0 0 0 16
Human Genetics Bochum, Ruhr University Bochum 0 6 10 0 0 0 0 0 0 0 0 16
Breakthrough Genomics, Breakthrough Genomics 10 5 1 0 0 0 0 0 0 0 0 16
Neurogenetics Laboratory, Royal Perth Hospital 15 0 0 0 0 0 0 0 0 0 0 15
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 5 3 7 0 0 0 0 0 0 0 0 15
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 0 0 15 15
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 11 3 0 0 0 0 0 0 0 0 0 14
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 3 6 5 0 0 0 0 0 0 0 0 14
Clinical Genomics Laboratory, Stanford Medicine 1 4 9 0 0 0 0 0 0 0 0 14
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 3 1 8 1 0 0 0 0 0 0 0 13
Center of Genomic medicine, Geneva, University Hospital of Geneva 7 4 2 0 0 0 0 0 0 0 0 13
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 2 6 3 0 2 0 0 0 0 0 0 13
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 5 1 6 1 0 0 0 0 0 0 0 13
Neuropathology Laboratory of Hebei Province, The Second Hospital of Hebei Medical University 9 0 4 0 0 0 0 0 0 0 0 13
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 10 0 0 0 0 0 0 0 0 0 12
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 5 7 0 0 0 0 0 0 0 0 0 12
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 2 6 3 0 0 0 0 0 0 0 0 11
Division of Human Genetics, Children's Hospital of Philadelphia 3 3 5 0 0 0 0 0 0 0 0 11
Hadassah Hebrew University Medical Center 1 10 0 0 0 0 0 0 0 0 0 11
Department of Medical Genetics, National Institute of Health 6 5 0 0 0 0 0 0 0 0 0 11
Center for Personalized Medicine, Children's Hospital Los Angeles 2 4 4 1 0 0 0 0 0 0 0 11
GeniaGeo, Laboratorio Genia 8 3 0 0 0 0 0 0 0 0 0 11
Genetic Diseases Diagnostic Center, Koc University Hospital 0 11 0 0 0 0 0 0 0 0 0 11
Wellcome Centre for Mitochondrial Research, Newcastle University 9 0 1 0 0 0 0 0 0 0 0 10
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 4 5 0 0 0 0 0 0 0 0 10
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 4 4 2 0 0 0 0 0 0 0 0 10
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 2 8 0 0 0 0 0 0 0 0 0 10
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 6 4 0 0 0 0 0 0 0 0 0 10
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 5 5 0 0 0 0 0 0 0 0 0 10
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 8 0 1 0 0 0 0 0 0 0 0 9
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 5 1 1 2 0 0 0 0 0 0 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 7 0 0 0 0 0 0 0 0 8
Department of Human Genetics, Hannover Medical School 1 3 4 0 0 0 0 0 0 0 0 8
Arcensus 1 3 4 0 0 0 0 0 0 0 0 8
School of Medicine, Universitat de Girona 0 0 8 0 0 0 0 0 0 0 0 8
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 2 3 3 0 0 0 0 0 0 0 0 7
Kariminejad - Najmabadi Pathology & Genetics Center 0 2 5 0 0 0 0 0 0 0 0 7
James R Lupski Laboratory, Baylor College Of Medicine 5 1 0 0 1 0 0 0 0 0 0 7
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 1 6 0 0 0 0 0 0 0 0 7
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 2 1 4 0 0 0 0 0 0 0 0 7
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University 0 7 0 0 0 0 0 0 0 0 0 7
Department of Pathophysiology and Transplantation, University of Milan 5 1 1 0 0 0 0 0 0 0 0 7
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 1 5 1 0 0 0 0 0 0 0 0 7
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 3 4 0 0 0 0 0 0 0 0 7
University of Washington Center for Mendelian Genomics, University of Washington 0 6 0 0 0 0 0 0 0 0 0 6
Medical Molecular Genetics Department, National Research Center 1 5 0 0 0 0 0 0 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 1 4 0 0 0 0 0 0 6
Institute of Human Genetics, Heidelberg University 2 4 0 0 0 0 0 0 0 0 0 6
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 5 0 0 0 0 0 0 0 0 6
Provincial Medical Genetics Program of British Columbia, University of British Columbia 2 2 1 0 1 0 0 0 0 0 0 6
Dr.Nikuei Genetic Center 3 1 0 1 1 0 0 0 0 0 0 6
Duke University Health System Sequencing Clinic, Duke University Health System 3 0 1 1 0 0 0 0 0 0 0 5
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 5 0 0 0 0 0 0 0 0 5
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 3 1 1 0 0 0 0 0 0 0 0 5
Clinical Genetics Laboratory, Region Ostergotland 1 4 0 0 0 0 0 0 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 1 0 0 0 0 0 0 0 5
Neuromuscular Diagnostic Laboratory, American University of Beirut Medical Center 5 0 0 0 0 0 0 0 0 0 0 5
Garshasbi Lab, Tarbiat Modares University 0 5 0 0 0 0 0 0 0 0 0 5
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 3 0 2 0 0 0 0 0 0 0 0 5
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 0 2 1 0 2 0 0 0 0 0 0 5
Neuromuscular and Neuropediatric Research Group, Germans Trias i Pujol Research Institute 4 1 0 0 0 0 0 0 0 0 0 5
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 4 0 0 0 0 0 0 0 0 0 5
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 5 0 0 0 0 0 0 0 0 0 5
Next Generation Genetic Polyclinic 0 2 3 0 0 0 0 0 0 0 0 5
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 1 0 1 1 1 0 0 0 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 2 0 0 0 0 0 0 0 0 0 4
Hehr Laboratory, Center for Human Genetics Regensburg 1 3 0 0 0 0 0 0 0 0 0 4
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 1 1 0 0 0 0 0 0 0 4
Sema4, Sema4 2 1 1 0 0 0 0 0 0 0 0 4
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 4 0 0 0 0 0 0 0 0 0 4
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 3 1 0 0 0 0 0 0 0 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 3 0 0 0 0 0 0 0 0 0 4
Institute for Genomic Medicine, Nationwide Children's Hospital 0 4 0 0 0 0 0 0 0 0 0 4
Tehran Medical Genetics Laboratory 0 4 0 0 0 0 0 0 0 0 0 4
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 4 0 0 0 0 0 0 0 0 0 0 4
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 4 0 0 0 0 0 0 0 0 0 0 4
Kids Research, The Children's Hospital at Westmead 2 1 1 0 0 0 0 0 0 0 0 4
Biochemistry Laboratory of CDMU, Chengde Medical University 2 2 0 0 0 0 0 0 0 0 0 4
Reproductive Health Research and Development, BGI Genomics 2 1 1 0 0 0 0 0 0 0 0 4
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 4 0 0 0 0 0 0 0 0 0 0 4
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 0 0 4 0 0 0 0 4
Institute of Human Genetics, University Hospital Muenster 4 0 0 0 0 0 0 0 0 0 0 4
Kids Neuroscience Centre, Sydney Children's Hospitals Network 2 1 1 0 0 0 0 0 0 0 0 4
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 3 0 0 0 0 0 0 0 0 4
Palindrome, Gene Kavoshgaran Aria 4 0 0 0 0 0 0 0 0 0 0 4
Payam Genetics Center, General Welfare Department of North Khorasan Province 2 2 0 0 0 0 0 0 0 0 0 4
Engle Laboratory, Boston Children's Hospital 1 2 0 0 0 0 0 0 0 0 0 3
GeneDx 0 0 1 0 2 0 0 0 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 1 0 0 0 0 0 0 0 0 3
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 1 0 0 0 0 0 0 0 0 0 3
American College of Medical Genetics and Genomics (ACMG) 1 0 0 0 1 0 0 0 0 1 0 3
Blueprint Genetics 1 0 2 0 0 0 0 0 0 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 3 0 0 0 0 0 0 0 0 0 3
Department of Neurology, University Hospital of Strasbourg 3 0 0 0 0 0 0 0 0 0 0 3
Dobyns Lab, Seattle Children's Research Institute 3 0 0 0 0 0 0 0 0 0 0 3
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 3 0 0 0 0 0 0 0 0 0 0 3
Department of Medical Genetics, University Hospital of North Norway 0 0 3 0 0 0 0 0 0 0 0 3
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 2 0 0 0 0 0 0 0 0 3
GenePathDx, GenePath diagnostics 2 0 1 0 0 0 0 0 0 0 0 3
Ege University Pediatric Genetics, Ege University 1 0 2 0 0 0 0 0 0 0 0 3
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 2 0 0 0 0 0 0 0 0 0 3
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 2 1 0 0 0 0 0 0 0 0 3
Dr. Alfred Bastarche Laboratory, Dr. Georges L. Dumont University Hospital Centre 0 2 1 0 0 0 0 0 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 1 0 0 0 0 0 0 0 0 0 3
Molecular Genetics Laboratory, Motol Hospital 2 1 0 0 0 0 0 0 0 0 0 3
Molecular Genetics Lab, CHRU Brest 2 1 0 0 0 0 0 0 0 0 0 3
Pediatric Department, Xiangya Hospital, Central South University 1 2 0 0 0 0 0 0 0 0 0 3
Genomics, Clalit Research Institute, Clalit Health Care 1 2 0 0 0 0 0 0 0 0 0 3
Department of Pathophysiology and Transplantation, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico 3 0 0 0 0 0 0 0 0 0 0 3
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 3 0 0 0 0 0 0 0 0 0 0 3
Institute for Molecular Bioscience, The University of Queensland 1 2 0 0 0 0 0 0 0 0 0 3
DECIPHERD-UDD, Universidad del Desarrollo 1 0 2 0 0 0 0 0 0 0 0 3
Igenomix - Part of Vitrolife Group, Igenomix 0 1 2 0 0 0 0 0 0 0 0 3
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 1 0 0 1 0 0 0 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 0 0 0 0 0 2
Leiden Muscular Dystrophy (CAV3) 0 0 0 0 0 0 0 0 0 0 2 2
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 1 1 0 0 0 0 0 0 0 0 0 2
UniProtKB/Swiss-Prot 0 1 0 0 0 0 0 0 0 0 1 2
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 1 1 0 0 0 0 0 0 0 0 2
Genetics and Personalized Medicine Clinic, Tartu University Hospital 1 1 0 0 0 0 0 0 0 0 0 2
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 2 0 0 0 0 0 0 0 0 0 0 2
Medical Genetics Section, University of Rome Tor Vergata 2 0 0 0 0 0 0 0 0 0 0 2
Biochimie Génétique et moléculaire, CHUGA 1 1 0 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 1 0 0 0 0 0 0 0 0 2
Neurology Department, Peking University First Hospital 1 1 0 0 0 0 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 2 0 0 0 0 0 0 0 0 0 0 2
The Morris Kahn Laboratory of Human Genetics, Ben-Gurion University of the Negev 2 0 0 0 0 0 0 0 0 0 0 2
Emory University School of Medicine, Department of Human Genetics, Emory University 1 1 0 0 0 0 0 0 0 0 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 2 0 0 0 0 0 0 0 0 0 0 2
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 2 0 0 0 0 0 0 0 0 0 2
Reproductive Development, Murdoch Childrens Research Institute 0 0 2 0 0 0 0 0 0 0 0 2
Laboratory of Medical Genetics, University of Torino 0 0 2 0 0 0 0 0 0 0 0 2
Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology 0 1 1 0 0 0 0 0 0 0 0 2
Department of Medical Genetics, University of Pecs 0 2 0 0 0 0 0 0 0 0 0 2
Coyote Medical Laboratory (Beijing), Coyote 2 0 0 0 0 0 0 0 0 0 0 2
Center for Biomedical Information, Shanghai Children’s Hospital 0 0 2 0 0 0 0 0 0 0 0 2
Department of Neurology, Guangzhou First People’s Hospital, School of Medicine, South China University of Technology 2 0 0 0 0 0 0 0 0 0 0 2
Human Genetics Section, Sidra Medicine 0 2 0 0 0 0 0 0 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 2 0 0 0 0 0 0 0 0 0 2
Section for Clinical Neurogenetics, University of Tübingen 1 1 0 0 0 0 0 0 0 0 0 2
Laboratory of Medical Genetics, Tor Vergata University 1 1 0 0 0 0 0 0 0 0 0 2
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 1 0 0 0 0 0 0 0 0 0 2
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 2 0 0 0 0 0 0 0 0 0 2
Department of Obstetrics, Zhejiang Provincial People's Hospital, Zhejiang Provincial People's Hospital 0 2 0 0 0 0 0 0 0 0 0 2
Medical Genetic Department, The Affiliated Hospital of Qingdao University 2 0 0 0 0 0 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 2 0 0 0 0 0 0 0 0 0 2
Department of Toxicogenomics, Maastricht University 0 2 0 0 0 0 0 0 0 0 0 2
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 2 0 0 0 0 0 0 0 0 0 2
Department of Pediatrics, The University of Tokyo 1 1 0 0 0 0 0 0 0 0 0 2
Vockley Lab, University of Pittsburgh 2 0 0 0 0 0 0 0 0 0 0 2
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 1 0 0 0 0 0 0 0 0 0 2
Eurofins-Biomnis 0 2 0 0 0 0 0 0 0 0 0 2
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 2 0 0 0 0 0 0 0 0 0 0 2
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 1 0 0 0 0 0 0 0 0 0 2
Al Jawhara Center for Molecular Medicine, Arabian Gulf University 0 2 0 0 0 0 0 0 0 0 0 2
Neurogenetics, Research Centre for Medical Genetics 2 0 0 0 0 0 0 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 0 0 0 0 0 2
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 2 0 0 0 0 0 0 0 0 0 0 2
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 1 1 0 0 0 0 0 0 0 0 2
Lildballe Lab, Aarhus University Hospital 0 2 0 0 0 0 0 0 0 0 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 2 0 0 0 0 0 0 0 0 0 0 2
Amsterdam UMC Genome Diagnostics, Amsterdam University Medical Center 1 0 0 0 0 0 0 0 0 0 0 1
Centre de Genetique Humaine, Institut de Pathologie et de Genetique 1 0 0 0 0 0 0 0 0 0 0 1
FirmaLab, FirmaLab 1 0 0 0 0 0 0 0 0 0 0 1
MGH Harvard Center for Reproductive Medicine, Massachusetts General Hospital 1 0 0 0 0 0 0 0 0 0 0 1
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Medical University Innsbruck 1 0 0 0 0 0 0 0 0 0 0 1
Leiden Muscular Dystrophy (DPM3) 0 0 0 0 0 0 0 0 0 0 1 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 0 0 0 0 1
Evolutionary and Medical Genetics Laboratory, Center for Cellular and Molecular Biology 0 1 0 0 0 0 0 0 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 0 0 0 0 0 0 0 1
CHU Sainte-Justine Research Center, University of Montreal 1 0 0 0 0 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 0 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 1 0 0 0 0 0 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 0 0 0 0 0 0 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 1 0 0 0 0 0 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 0 0 0 0 0 1
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 0 0 0 0 0 1
Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center 0 1 0 0 0 0 0 0 0 0 0 1
Neuromuscular disorders lab, University of Helsinki 1 0 0 0 0 0 0 0 0 0 0 1
Marco Cassone, Clinical geneticist 1 0 0 0 0 0 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 0 0 0 0 0 1
Laboratory of Dr Salvatore DiMauro, H. Houston Merritt Clinical Research Center., Columbia University Medical Center 1 0 0 0 0 0 0 0 0 0 0 1
ClinGen Cardiomyopathy Variant Curation Expert Panel 0 0 1 0 0 0 0 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 0 0 0 1 0 0 0 0 0 0 0 1
Department of Immunology, University Hospital Southampton NHSFT 0 1 0 0 0 0 0 0 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 1 0 0 0 0 0 0 0 0 0 0 1
Cirak Lab, University Hospital Cologne 1 0 0 0 0 0 0 0 0 0 0 1
Genetic Research, Kawsar Human Genetics Research Center 1 0 0 0 0 0 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 0 0 0 0 0 1
Pediatric Metabolic Diseases, Hacettepe University 1 0 0 0 0 0 0 0 0 0 0 1
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 1 0 0 0 0 0 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 0 0 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine 0 1 0 0 0 0 0 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 0 0 0 0 0 1
IRCCS Fondazione Stella Maris, University of Pisa 1 0 0 0 0 0 0 0 0 0 0 1
Institute of Cell Biology and Neurobiology, Charite - Universitaetsmedizin Berlin 1 0 0 0 0 0 0 0 0 0 0 1
Research Center for Molecular Medicine, Hamadan University of medical science 1 0 0 0 0 0 0 0 0 0 0 1
Hakim Medical Genetics Center Laboratory, Neyshabur University of Medical Sciences 1 0 0 0 0 0 0 0 0 0 0 1
Genatak 0 1 0 0 0 0 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 0 1 0 0 0 0 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 0 0 0 0 0 0 1
Mitochondrial Disorders Lab i+12, Hospital Universitario 12 de Octubre 1 0 0 0 0 0 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 0 0 0 0 0 1
Center of Human Genetics, Erasme Hospital 1 0 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Emek Medical Center 0 1 0 0 0 0 0 0 0 0 0 1
Savagenome Genetic Health Clinic, Tarbiat Modares University 1 0 0 0 0 0 0 0 0 0 0 1
Neurology Institute, Anhui University of Chinese Medicine 1 0 0 0 0 0 0 0 0 0 0 1
Tan Tock Seng Hospital, National Healthcare Group 1 0 0 0 0 0 0 0 0 0 0 1
Cardiogenetic Laboratory, Instituto Murciano de Investigación Biosanitaria 0 1 0 0 0 0 0 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 0 0 0 0 0 1 1
Kowloon West Cluster Laboratory Genetic Service, Princess Margaret Hospital 1 0 0 0 0 0 0 0 0 0 0 1
Genetics, INEBIR 1 0 0 0 0 0 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, Tarbiat Modares University 1 0 0 0 0 0 0 0 0 0 0 1
Rare Disease Group, University of Exeter 0 1 0 0 0 0 0 0 0 0 0 1
CUBI - Core Unit Bioinformatics, Berlin Institute of Health 0 0 1 0 0 0 0 0 0 0 0 1
Prenatal Diagnosis Center, Jiangxi Provincial Maternal and Child Care Hospital 0 0 1 0 0 0 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 0 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 0 0 0 0 0 1
Inborn Errors of Metabolism, Hospital Clinic, IDIBAPS, CIBERER 0 1 0 0 0 0 0 0 0 0 0 1
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 1 0 0 0 0 0 0 0 0 1
Molecular Biology Laboratory, Virgen Macarena University Hospital 0 1 0 0 0 0 0 0 0 0 0 1
MNM Diagnostics 1 0 0 0 0 0 0 0 0 0 0 1
Centro de Registro e Investigacion sobre Anomalias Congenitas, Hospital Civil de Guadalajara Dr. Juan I. Menchaca 1 0 0 0 0 0 0 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 1 0 0 0 0 0 0 0 0 0 0 1
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital 1 0 0 0 0 0 0 0 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 0 1 0 0 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 0 0 0 0 0 1
Precision Medical Center, Wuhan Children's Hospital 0 1 0 0 0 0 0 0 0 0 0 1
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University 1 0 0 0 0 0 0 0 0 0 0 1
Department of Neurogenetics, Institute for Communicative and Cognitive Neurosciences 1 0 0 0 0 0 0 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 0 0 0 0 1
Rare Diseases Genetics and Genomics, Islamia College Peshawar 1 0 0 0 0 0 0 0 0 0 0 1
Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar 1 0 0 0 0 0 0 0 0 0 0 1
Pediatrics Department, Azienda Ospedaliero-Universitaria Policlinico San Marco 0 1 0 0 0 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 0 1 0 0 0 0 0 0 0 0 0 1
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto 1 0 0 0 0 0 0 0 0 0 0 1
Molecular Diagnostics and Clinical Genetics Unit, Hospital Universitari Son Espases/IbSalut 1 0 0 0 0 0 0 0 0 0 0 1
Matsson lab, Uppsala university 0 1 0 0 0 0 0 0 0 0 0 1
Department of Neuromuscular Diseases, Third Hospital of Hebei Medical University 1 0 0 0 0 0 0 0 0 0 0 1
Genexplore Diagnostics and Research Centre Pvt. Ltd., NA 1 0 0 0 0 0 0 0 0 0 0 1
Department of Cardiology, The Fifth Hospital of Shanxi Medical University 0 0 1 0 0 0 0 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 0 0 0 0 0 1
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA 0 1 0 0 0 0 0 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 1 0 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Noor Gene 1 0 0 0 0 0 0 0 0 0 0 1
Neurologia y Psiquiatria, Clinica Alemana Santiago 1 0 0 0 0 0 0 0 0 0 0 1
Genetics Research Group, Universidad San Francisco de Quito 1 0 0 0 0 0 0 0 0 0 0 1
Neurogenetics and Molecular Medicine Laboratory - IPER, Institut De Recerca Sant Joan De Déu 1 0 0 0 0 0 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 0 0 0 0 0 0 1
Laboratorio De Medicina Genomica, Universidad Icesi 0 1 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, First Hospital Of Nanchang 1 0 0 0 0 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Exon Genomics 1 0 0 0 0 0 0 0 0 0 0 1
Children's Medical Center, Molecular Pathology and Cytogenetics Lab, Tehran University of Medical Sciences 0 0 1 0 0 0 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 1 0 0 0 0 0 0 0 0 0 1
Prenatal Diagnosis Center, Peking University People's Hospital 0 1 0 0 0 0 0 0 0 0 0 1
Dept. of Pathology and Cell Biology, NewYork-Presbyterian Hospital/Columbia University Irving Medical Center 0 1 0 0 0 0 0 0 0 0 0 1
Laboratorio de Investigaciones Aplicadas a Neurociencias, Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia 1 0 0 0 0 0 0 0 0 0 0 1
Genetic Laboratory, Progenet 0 1 0 0 0 0 0 0 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 0 1 0 0 0 0 0 0 0 0 1
Laboratorio Biología Molecular, Sanatorio Americano 0 1 0 0 0 0 0 0 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 1 0 0 0 0 0 0 0 0 0 0 1
Unidad de Genética, Hospital Universitario de Canarias 0 1 0 0 0 0 0 0 0 0 0 1
Laboratory of Cardiovascular Genetics, IRCCS Istituto Auxologico Italiano 0 1 0 0 0 0 0 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 0 0 0 0 0 1

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