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allele_freqs.txt
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allele_freqs.txt
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PP IDs, variants, and corresponding allele freqs
PP0059
2: 152346522 G>A - NEB (Park: lethal)
AMR_AF = 0.0029
DDD_AF = 0.002897
EAS_AF = 0.001
ESP_AF = 0.002
MAX_AF = 0.004
PAGE_V3_AF = 0.008333
2: 152384078 C>T - NEB (Park: lethal)
DDD_AF = 0.000366
MAX_AF = 0.000366
PAGE_V3_AF = 0.008333
PP0267
1: 15894604 T>C - DNAJC16
No AF data
1: 36216977 TTCC>T - CLSPN
DDD_AF = 0.000366
ESP_AF = 0.00479
MAX_AF = 0.00479
PAGE_V5_AF = 0.006494
17: 5365725 C>G - DHX33
No AF data
PP0004
16: 9857047 G>A - GRIN2A (Park: nonlethal)
MAX_AF = 0.001
SAS_AF = 0.001
20: 60886088 C>T - LAMA5 (Park: nondisease lethal)
DDD_AF = 0.000244
MAX_AF = 0.000244
PAGE_V3_AF = 0.008333
20: 60892813 G>A - LAMA5 (Park: nondisease lethal)
DDD_AF = 0.001379
ESP_AF = 0.00023
MAX_AF = 0.00171912
PAGE_V3_AF = 0.008333
PP0025
1: 39851427 G>A - MACF1 (Park: nondisease lethal)
DDD_AF = 0.000366
ESP_AF = 0.00015
MAX_AF = 0.000925681
PAGE_V3_AF = 0.008333
1: 39901245 A>G - MACF1 (Park: nondisease lethal)
DDD_AF = 0.000122
MAX_AF = 0.000122
PAGE_V3_AF = 0.008333
8: 20069263 G>T - ATP6V1B2
No AF data
9: 91994007 C>T - SEMA4D (Park: nondisease nonlethal)
No AF data
PP0273
1: 245766015 A>G - KIF26B
AMR_AF = 0.0029
DDD_AF = 0.003172
ESP_AF = 0.00207
MAX_AF = 0.00370272
PAGE_V5_AF = 0.003247
1: 245851740 C>T - KIF26B
AFR_AF = 0.0008
DDD_AF = 0.000414
MAX_AF = 0.002
PAGE_V5_AF = 0.003247
SAS_AF = 0.002
PP0053
11: 6411935 TGCTGGCGCTGGC>* - SMPD1 (Park: lethal)
No AF data
12: 48369853 C>A - COL2A1 (Park: lethal)
No AF data
PP0013
17: 29562669 G>A - NF1 (Park: lethal)
No AF data
1: 8418331 C>T - RERE (Park: nondisease lethal)
DDD_AF = 0.000244
MAX_AF = 0.000244
PAGE_V3_AF = 0.008333
1: 8418909 C>T - RERE (Park: nondisease lethal)
MAX_AF = 0.00013224
PAGE_V3_AF = 0.008333
PP0019
1: 160811672 G>T - CD244 (Park: nondisease nonlethal)
DDD_AF = 0.000138
MAX_AF = 0.000138
11: 84028095 G>A - DLG2 (Park: nondisease nonlethal)
No AF data
PP0047
2: 179452447 T>C - TTN (Park: lethal)
DDD_AF = 0.000854
ESP_AF = 0.00058
MAX_AF = 0.000854
PAGE_V3_AF = 0.008333
2: 179611552 C>T - TTN (Park: lethal)
DDD_AF = 0.000732
ESP_AF = 0.00031
MAX_AF = 0.001
PAGE_V3_AF = 0.008333
PP0065
2: 236839424 C>T - AGAP1
No AF data
3: 47727627 G>A - SMARCC1 (Park: nondisease lethal)
No AF data
PP0062
2: 179404498 G>C - TTN (Park: lethal)
AMR_AF = 0.0029
DDD_AF = 0.002897
ESP_AF = 0.00285
MAX_AF = 0.0029
PAGE_V3_AF = 0.008333
SAS_AF = 0.001
2: 179424272 C>A - TTN (Park: lethal)
PAGE_V3_AF = 0.008333
2: 179454530 C>T - TTN (Park: lethal)
AMR_AF = 0.0029
DDD_AF = 0.002685
ESP_AF = 0.0031
MAX_AF = 0.0031
PAGE_V3_AF = 0.008333
SAS_AF = 0.001
2: 179610967 C>T - TTN (Park: lethal)
AMR_AF = 0.0029
DDD_AF = 0.002759
ESP_AF = 0.00285
MAX_AF = 0.003
PAGE_V3_AF = 0.008333
SAS_AF = 0.001
4: 1806099 A>G - FGFR3 (Park: lethal)
No AF data
PP0315
17: 62022122 A>G - SCN4A
PAGE_V5_AF = 0.006494
PP0303
2: 175614789 T>C - CHRNA1
PAGE_V5_AF = 0.003247
2: 175619069 G>T - CHRNA1
PAGE_V5_AF = 0.003247
PP0010
2: 179430460 A>G - TTN (Park: lethal)
MAX_AF = 0.00013224
PAGE_V3_AF = 0.008333
2: 179497758 A>G - TTN (Park: lethal)
AMR_AF = 0.0014
MAX_AF = 0.0014
PAGE_V3_AF = 0.008333
2: 179579172 C>T - TTN (Park: lethal)
DDD_AF = 0.000414
MAX_AF = 0.000414
PAGE_V3_AF = 0.008333
PP IDs, variants, and corresponding allele freqs
PP0126
7: 17375352 C>T - AHR (Park: nondisease lethal)
PAGE_V5_AF = 0.003247
7: 17378731 C>T - AHR (Park: nondisease lethal)
DDD_AF = 0.000138
MAX_AF = 0.000138
PAGE_V5_AF = 0.003247
PP0165
17: 18152667 G>A - FLII (Park: nondisease lethal)
DDD_AF = 0.000966
ESP_AF = 0.00023
MAX_AF = 0.005
PAGE_V5_AF = 0.003247
SAS_AF = 0.001
17: 18155814 T>C - FLII (Park: nondisease lethal)
PAGE_V5_AF = 0.003247
PP0291
11: 1090912 CACCATCACCCTCCCCACCACCCCCACCACCTTCACCACT>C - MUC2 (Park: nonlethal)
PAGE_V5_AF = 0.003247
11: 1090923 T>* - MUC2 (Park: nonlethal)
PAGE_V5_AF = 0.003247
11: 1090933 C>* - MUC2 (Park: nonlethal)
PAGE_V5_AF = 0.003247
11: 1097784 G>A - MUC2 (Park: nonlethal)
DDD_AF = 0.000276
ESP_AF = 0.00039
MAX_AF = 0.00039
PAGE_V5_AF = 0.003247
15: 35084633 G>A - ACTC1 (Park: lethal)
No AF data
PP0297
1: 179308680 G>A - SOAT1 (Park: nondisease nonlethal)
No AF data
PP0210
2: 179396782 C>G - TTN (Park: lethal)
AMR_AF = 0.0014
DDD_AF = 0.007567
ESP_AF = 0.00623
MAX_AF = 0.0089
PAGE_V5_AF = 0.009740
SAS_AF = 0.002
2: 179486037 C>A - TTN (Park: lethal)
AMR_AF = 0.0014
DDD_AF = 0.007322
ESP_AF = 0.0061
MAX_AF = 0.008
PAGE_V5_AF = 0.009740
SAS_AF = 0.002
2: 179582913 C>T - TTN (Park: lethal)
DDD_AF = 0.003051
ESP_AF = 0.00264
MAX_AF = 0.00343824
PAGE_V5_AF = 0.006494
2: 179645962 C>G - TTN (Park: lethal)
DDD_AF = 0.004393
ESP_AF = 0.003
MAX_AF = 0.005
PAGE_V5_AF = 0.006494
PP0099
2: 179478597 C>A - TTN (Park: lethal)
DDD_AF = 0.000488
ESP_AF = 0.00057
MAX_AF = 0.000661201
PAGE_V5_AF = 0.003247
2: 179585312 G>A - TTN (Park: lethal)
AMR_AF = 0.0029
DDD_AF = 0.006102
ESP_AF = 0.00655
MAX_AF = 0.008
PAGE_V5_AF = 0.009740
PP0153
2: 179398591 T>C - TTN (Park: lethal)
AFR_AF = 0.0008
DDD_AF = 0.001953
ESP_AF = 0.00092
MAX_AF = 0.004
PAGE_V5_AF = 0.003247
2: 179610639 T>G - TTN (Park: lethal)
PAGE_V5_AF = 0.003247
PP0315
17: 62022122 A>G - SCN4A
PAGE_V5_AF = 0.006494
2: 179581845 C>A - TTN (Park: lethal)
DDD_AF = 0.000276
MAX_AF = 0.001
PAGE_V5_AF = 0.003247
SAS_AF = 0.001
2: 179590229 A>G - TTN (Park: lethal)
PAGE_V5_AF = 0.003247
8: 37823278 AAGCGC>A - ADRB3 (Park: nonlethal)
DDD_AF = 0.000244
PAGE_V5_AF = 0.006494
PP0312
12: 120650219 G>C - PXN (Park: nondisease lethal)
PAGE_V5_AF = 0.006494
14: 95054087 G>A - SERPINA5 (Park: nondisease nonlethal)
DDD_AF = 0.000976
ESP_AF = 0.00046
MAX_AF = 0.0051
PAGE_V5_AF = 0.006494
SAS_AF = 0.0051
17: 79496095 C>T - FSCN2 (Park: nonlethal)
DDD_AF = 0.001931
ESP_AF = 0.00032
MAX_AF = 0.0041
PAGE_V5_AF = 0.009740
SAS_AF = 0.0041
21: 46895431 G>C - COL18A1 (Park: nonlethal)
DDD_AF = 0.000276
MAX_AF = 0.0041
PAGE_V5_AF = 0.006494
SAS_AF = 0.0041
2: 179435114 G>A - TTN (Park: lethal)
DDD_AF = 0.001103
MAX_AF = 0.0061
PAGE_V5_AF = 0.006494
SAS_AF = 0.0061
4: 106863487 C>T - NPNT (Park: nondisease nonlethal)
DDD_AF = 0.000610
MAX_AF = 0.0061
PAGE_V5_AF = 0.006494
SAS_AF = 0.0061
7: 101943869 CCCCGGTCCCAGT>C - SH2B2 (Park: nondisease nonlethal)
DDD_AF = 0.000138
MAX_AF = 0.0041
PAGE_V5_AF = 0.003247
SAS_AF = 0.0041
7: 101960960 C>T - SH2B2 (Park: nondisease nonlethal)
DDD_AF = 0.000276
MAX_AF = 0.0072
PAGE_V5_AF = 0.003247
SAS_AF = 0.0072
PP0090
19: 49129341 G>A - SPHK2 (Park: nondisease nonlethal)
DDD_AF = 0.001098
ESP_AF = 0.00054
MAX_AF = 0.001098
PAGE_V5_AF = 0.003247
19: 49132795 G>C - SPHK2 (Park: nondisease nonlethal)
PAGE_V5_AF = 0.003247
PP0135
1: 12057463 T>C - MFN2 (Park: lethal)
No AF data
PP0273
1: 245766015 A>G - KIF26B
AMR_AF = 0.0029
DDD_AF = 0.003172
ESP_AF = 0.00207
MAX_AF = 0.00370272
PAGE_V5_AF = 0.003247
1: 245851740 C>T - KIF26B
AFR_AF = 0.0008
DDD_AF = 0.000414
MAX_AF = 0.002
PAGE_V5_AF = 0.003247
SAS_AF = 0.002
PP0258
2: 179499464 A>G - TTN (Park: lethal)
MAX_AF = 0.00013224
PAGE_V5_AF = 0.003247
2: 179559353 C>T - TTN (Park: lethal)
DDD_AF = 0.002621
ESP_AF = 0.00215
MAX_AF = 0.00343824
PAGE_V5_AF = 0.009740
2: 179582760 T>C - TTN (Park: lethal)
DDD_AF = 0.004638
ESP_AF = 0.00571
MAX_AF = 0.00819889
PAGE_V5_AF = 0.009740
2: 179598553 T>G - TTN (Park: lethal)
DDD_AF = 0.002069
ESP_AF = 0.00164
MAX_AF = 0.00290928
PAGE_V5_AF = 0.003247
2: 179615278 A>G - TTN (Park: lethal)
DDD_AF = 0.002621
ESP_AF = 0.00223
MAX_AF = 0.00409944
PAGE_V5_AF = 0.009740
PP0231
2: 179474150 C>T - TTN (Park: lethal)
DDD_AF = 0.000138
ESP_AF = 0.00033
MAX_AF = 0.00033
PAGE_V5_AF = 0.003247
2: 179585312 G>A - TTN (Park: lethal)
AMR_AF = 0.0029
DDD_AF = 0.006102
ESP_AF = 0.00655
MAX_AF = 0.008
PAGE_V5_AF = 0.009740
PP0279
1: 17250945 G>T - CROCC (Park: nondisease nonlethal)
PAGE_V5_AF = 0.003247
1: 17257090 G>A - CROCC (Park: nondisease nonlethal)
DDD_AF = 0.000138
MAX_AF = 0.00026448
PAGE_V5_AF = 0.003247
PP0174
1: 115258748 C>G - NRAS (Park: lethal)
No AF data
PP0187
7: 80293737 G>C - CD36 (Park: nonlethal)
DDD_AF = 0.000488
ESP_AF = 0.00015
MAX_AF = 0.000488
PAGE_V5_AF = 0.003247
7: 80300474 A>G - CD36 (Park: nonlethal)
DDD_AF = 0.000414
MAX_AF = 0.000414
PAGE_V5_AF = 0.003247
PP0186
2: 179419452 A>G - TTN (Park: lethal)
PAGE_V5_AF = 0.003247
2: 179441295 T>C - TTN (Park: lethal)
AMR_AF = 0.0086
DDD_AF = 0.007933
ESP_AF = 0.00659
MAX_AF = 0.0086
PAGE_V5_AF = 0.003247
SAS_AF = 0.0031
2: 179482089 C>T - TTN (Park: lethal)
AFR_AF = 0.0008
DDD_AF = 0.007567
ESP_AF = 0.00656
MAX_AF = 0.0086
PAGE_V5_AF = 0.003247
SAS_AF = 0.002
2: 179545815 C>T - TTN (Park: lethal)
DDD_AF = 0.000138
MAX_AF = 0.001
PAGE_V5_AF = 0.003247
SAS_AF = 0.001
PP0185
2: 179464457 T>C - TTN (Park: lethal)
MAX_AF = 0.00013224
PAGE_V5_AF = 0.003247
2: 179584104 C>G - TTN (Park: lethal)
DDD_AF = 0.000244
MAX_AF = 0.000244
PAGE_V5_AF = 0.003247
PP0184
15: 96877607 T>C - NR2F2 (Park: nondisease lethal)
No AF data
PP0181
4: 169847387 A>G - PALLD (Park: lethal)
No AF data
PP0204
2: 179482763 C>T - TTN (Park: lethal)
AMR_AF = 0.0043
DDD_AF = 0.003173
ESP_AF = 0.00344
MAX_AF = 0.0043
PAGE_V5_AF = 0.006494
SAS_AF = 0.002
2: 179594107 G>C - TTN (Park: lethal)
AMR_AF = 0.0014
DDD_AF = 0.003051
ESP_AF = 0.00338
MAX_AF = 0.00338
PAGE_V5_AF = 0.006494
SAS_AF = 0.001
2: 179645962 C>G - TTN (Park: lethal)
DDD_AF = 0.004393
ESP_AF = 0.003
MAX_AF = 0.005
PAGE_V5_AF = 0.006494
PP0206
1: 94466455 C>T - ABCA4 (Park: nonlethal)
DDD_AF = 0.000244
MAX_AF = 0.000244
PAGE_V5_AF = 0.003247
1: 94517254 C>G - ABCA4 (Park: nonlethal)
AFR_AF = 0.0008
DDD_AF = 0.008828
ESP_AF = 0.00523
MAX_AF = 0.008828
PAGE_V5_AF = 0.009740
SAS_AF = 0.002
PP0207
2: 179455208 G>T - TTN (Park: lethal)
DDD_AF = 0.000138
MAX_AF = 0.000138
PAGE_V5_AF = 0.003247
2: 179639041 C>T - TTN (Park: lethal)
PAGE_V5_AF = 0.003247
6: 143095041 T>C - HIVEP2 (Park: nondisease nonlethal)
No AF data
PP0147
3: 51669688 AG>A - RAD54L2 (Park: nondisease lethal)
No AF data
PP0144
22: 50719544 C>T - PLXNB2 (Park: nondisease lethal)
No AF data
PP0087
11: 103057046 C>T - DYNC2H1 (Park: nondisease lethal)
PAGE_V5_AF = 0.003247
11: 103060543 C>T - DYNC2H1 (Park: nondisease lethal)
DDD_AF = 0.000122
MAX_AF = 0.00013224
PAGE_V5_AF = 0.003247
9: 1051855 G>C - DMRT2 (Park: nondisease lethal)
No AF data
PP0306
15: 91450541 T>C - MAN2A2 (Park: nondisease nonlethal)
No AF data
PP0300
12: 121434140 T>C - HNF1A (Park: nondisease lethal)
No AF data
PP0303
2: 175614789 T>C - CHRNA1
PAGE_V5_AF = 0.003247
2: 175619069 G>T - CHRNA1
PAGE_V5_AF = 0.003247
11
rs658804: A 403515.47>PASS - 103057048
AFR_AF = 0.4985
DDD_AF = 0.607448
EAS_AF = 0.5526
ESP_AF = 0.59755
MAX_AF = 0.67
PAGE_V5_AF = 0.564935
SAS_AF = 0.5675
PP0267
1: 156815568 C>A - INSRR (Park: nondisease lethal)
DDD_AF = 0.000244
MAX_AF = 0.0072
PAGE_V5_AF = 0.006494
SAS_AF = 0.0072
1: 15894604 T>C - DNAJC16
No AF data
13: 32914723 G>C - BRCA2 (Park: lethal)
DDD_AF = 0.000122
MAX_AF = 0.001
PAGE_V5_AF = 0.006494
SAS_AF = 0.001
1: 36216977 TTCC>T - CLSPN
DDD_AF = 0.000366
ESP_AF = 0.00479
MAX_AF = 0.00479
PAGE_V5_AF = 0.006494
1: 39775990 A>C - MACF1 (Park: nondisease lethal)
PAGE_V5_AF = 0.006494
1: 41303392 G>A - KCNQ4 (Park: nonlethal)
PAGE_V5_AF = 0.006494
14: 70515585 G>A - SLC8A3 (Park: nondisease nonlethal)
DDD_AF = 0.000122
MAX_AF = 0.000122
PAGE_V5_AF = 0.006494
17: 5365725 C>G - DHX33
No AF data
7: 100849656 G>T - PLOD3 (Park: nondisease lethal)
PAGE_V5_AF = 0.006494
7: 83634752 T>C - SEMA3A (Park: nondisease lethal)
DDD_AF = 0.000122
PAGE_V5_AF = 0.006494
PP0243
2: 179396051 T>A - TTN (Park: lethal)
PAGE_V5_AF = 0.003247
2: 179578891 T>C - TTN (Park: lethal)
DDD_AF = 0.002075
ESP_AF = 0.00068
MAX_AF = 0.002075
PAGE_V5_AF = 0.003247
2: 179590708 C>T - TTN (Park: lethal)
DDD_AF = 0.002807
ESP_AF = 0.001
MAX_AF = 0.002807
PAGE_V5_AF = 0.003247
PP0120
2: 179436310 T>C - TTN (Park: lethal)
DDD_AF = 0.000276
MAX_AF = 0.0072
PAGE_V5_AF = 0.003247
SAS_AF = 0.0072
2: 179579952 G>A - TTN (Park: lethal)
MAX_AF = 0.002
PAGE_V5_AF = 0.003247
SAS_AF = 0.002
PP0123
2: 179411381 C>T - TTN (Park: lethal)
DDD_AF = 0.000122
MAX_AF = 0.000122
PAGE_V5_AF = 0.003247
2: 179638996 T>C - TTN (Park: lethal)
PAGE_V5_AF = 0.003247
PP0249
2: 179404550 G>A - TTN (Park: lethal)
AFR_AF = 0.0008
DDD_AF = 0.002319
ESP_AF = 0.0029
MAX_AF = 0.0041
PAGE_V5_AF = 0.006494
SAS_AF = 0.0041
2: 179484561 C>T - TTN (Park: lethal)
PAGE_V5_AF = 0.003247
2: 179567340 G>A - TTN (Park: lethal)
AFR_AF = 0.0008
DDD_AF = 0.002319
ESP_AF = 0.00299
PAGE_V5_AF = 0.006494
SAS_AF = 0.0031
2: 179632598 C>T - TTN (Park: lethal)
AFR_AF = 0.0008
DDD_AF = 0.002929
ESP_AF = 0.00323
MAX_AF = 0.0051
PAGE_V5_AF = 0.006494
SAS_AF = 0.0051
PP0162
4: 3494939 G>A - DOK7 (Park: lethal)
DDD_AF = 0.000244
EAS_AF = 0.001
MAX_AF = 0.001
PAGE_V5_AF = 0.003247
4: 3495220 C>A - DOK7 (Park: lethal)
AMR_AF = 0.0029
DDD_AF = 0.001103
EUR_AF = 0.001
MAX_AF = 0.0041
PAGE_V5_AF = 0.003247
SAS_AF = 0.0041
6: 51524453 T>G - PKHD1 (Park: nonlethal)
DDD_AF = 0.000138
MAX_AF = 0.001
PAGE_V5_AF = 0.003247
SAS_AF = 0.001
6: 51798959 G>A - PKHD1 (Park: nonlethal)
PAGE_V5_AF = 0.003247
PP0129
2: 179463562 A>T - TTN (Park: lethal)
DDD_AF = 0.000276
MAX_AF = 0.000276
PAGE_V5_AF = 0.003247
2: 179587610 G>A - TTN (Park: lethal)
DDD_AF = 0.000138
MAX_AF = 0.000138
PAGE_V5_AF = 0.003247