| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| POTEB_chr15_21841329_21882735 | 21850827 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00621.hp1 others(26): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0004a0003c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0005others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(25): Show | 29 | 64 | 0.4531 | -28 | c.129 others(47): Show |
POTEB | ENSG00000233917.9 | transcript | ENST00000439682.2 | protein_coding | 9/10 | chr15 | TogoVar | ||||||
| POTEB_chr15_21841329_21882735 | 21871384 | CACACACA others(21): Show |
C | intron_variant | MODIFIER | HG02148.hp1 HG02293.hp2 HG03098.hp1 |
a0001a0011 | a0001c0004a0011c0016 | a0001c0004t0005a0011c0016t0003 | a0001c0004t0005g0023a0001c0004t0005g0024a0011c0016t0003g0031 | 3 | 64 | 0.0469 | -28 | c.699 others(43): Show |
POTEB | ENSG00000233917.9 | transcript | ENST00000439682.2 | protein_coding | 3/10 | chr15 | TogoVar | ||||||
| POTEB_chr15_21841329_21882735 | 21878891 | CTCAAAAA others(21): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(27): Show |
a0001a0009a0013 | a0001c0001a0009c0010a0013c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(26): Show | 30 | 64 | 0.4688 | -28 | c.-16 others(39): Show |
POTEB | ENSG00000233917.9 | transcript | ENST00000439682.2 | protein_coding | 1157 | chr15 | TogoVar | ||||||
| POTED_chr21_13604777_13650823 | 13609721 | ACGCCTCA others(21): Show |
A | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0038 | 1 | 416 | 0.0024 | -28 | c.-50 others(37): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 55 | chr21 | TogoVar | ||||||
| POTED_chr21_13604777_13650823 | 13609745 | GCGCCCGC others(21): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(296): Show |
a0001a0003a0005others(7): Show | a0001c0001a0001c0003a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(46): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0016others(169): Show | 299 | 416 | 0.7188 | -28 | c.-48 others(37): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 31 | chr21 | TogoVar | ||||||
| POTEG_chr14_19397486_19439341 | 19432379 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0024 | a0024c0031 | a0024c0031t0017 | a0024c0031t0017g0098 | 1 | 111 | 0.0090 | -28 | c.521 others(45): Show |
POTEG | ENSG00000187537.13 | transcript | ENST00000547848.5 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
| POTEI_chr2_130454455_130514328 | 130507297 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0032 | 1 | 125 | 0.0080 | -28 | c.521 others(45): Show |
POTEI | ENSG00000196834.14 | transcript | ENST00000451531.7 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| POU1F1_chr3_87254404_87281584 | 87260868 | TTTTTTTT others(21): Show |
T | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0152 | 1 | 420 | 0.0024 | -28 | c.665 others(43): Show |
POU1F1 | ENSG00000064835.12 | transcript | ENST00000350375.7 | protein_coding | 5/5 | chr3 | TogoVar | ||||||
| POU1F1_chr3_87254404_87281584 | 87277772 | TTTTCAAA others(21): Show |
T | upstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 420 | 0.0024 | -28 | c.-13 others(39): Show |
POU1F1 | ENSG00000064835.12 | transcript | ENST00000350375.7 | protein_coding | 1189 | chr3 | TogoVar | ||||||
| POU2AF1_chr11_111347255_111384275 | 111352965 | GGAAGGAA others(21): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG01952.hp1 HG01952.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0023a0001c0001t0025others(2): Show | a0001c0001t0013g0005a0001c0001t0013g0049a0001c0001t0013g0053others(9): Show | 16 | 384 | 0.0417 | -28 | c.*12 others(39): Show |
POU2AF1 | ENSG00000110777.12 | transcript | ENST00000393067.8 | protein_coding | 5/5 | 1268 | chr11 | TogoVar | |||||
| POU2AF2_chr11_111240725_111291401 | 111264491 | CGAAAGAA others(21): Show |
C | intron_variant | MODIFIER | HG01978.hp2 HG01981.hp2 NA18953.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0176a0001c0001t0002g0105a0001c0001t0002g0106others(1): Show | 4 | 380 | 0.0105 | -28 | c.120 others(45): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| POU2AF3_chr11_111293546_111313735 | 111309944 | ATGAGGAG others(21): Show |
A | downstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 468 | 0.0021 | -28 | c.*15 others(39): Show |
POU2AF3 | ENSG00000214290.9 | transcript | ENST00000610738.6 | protein_coding | 1210 | chr11 | TogoVar | ||||||
| POU2F1_chr1_167215886_167432340 | 167343632 | ATTTTTTT others(21): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02976.hp1 HG03041.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017a0001c0001t0051others(3): Show | a0001c0001t0002g0035a0001c0001t0017g0006a0001c0001t0051g0106others(3): Show | 6 | 292 | 0.0206 | -28 | c.127 others(47): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| POU2F3_chr11_120235140_120324945 | 120274084 | AAAGAAAG others(21): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG02896.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179a0001c0001t0002g0180a0001c0001t0002g0217 | 3 | 320 | 0.0094 | -28 | c.132 others(45): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| POU4F2_chr4_146633893_146647474 | 146643042 | CCTCTCTC others(21): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG01516.hp2 others(22): Show |
a0001a0003 | a0001c0019a0003c0003 | a0001c0019t0023a0003c0003t0003a0003c0003t0016 | a0001c0019t0023g0002a0003c0003t0003g0002a0003c0003t0003g0003others(1): Show | 25 | 414 | 0.0604 | -28 | c.*22 others(39): Show |
POU4F2 | ENSG00000151615.3 | transcript | ENST00000281321.3 | protein_coding | 569 | chr4 | TogoVar | ||||||
| POU5F1_chr6_31159337_31175682 | 31161092 | TGCAGTGA others(21): Show |
T | downstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0001 | 1 | 445 | 0.0023 | -28 | c.*34 others(39): Show |
POU5F1 | ENSG00000204531.21 | transcript | ENST00000259915.13 | protein_coding | 3244 | chr6 | TogoVar | ||||||
| POU6F1_chr12_51181936_51223062 | 51219847 | ATATACAT others(21): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 440 | 0.0023 | -28 | c.-22 others(39): Show |
POU6F1 | ENSG00000184271.18 | transcript | ENST00000333640.12 | protein_coding | 1786 | chr12 | TogoVar | ||||||
| POU6F1_chr12_51181936_51223062 | 51219949 | GTATGTGT others(21): Show |
G | upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0012 | a0001c0012t0104 | a0001c0012t0104g0362 | 1 | 440 | 0.0023 | -28 | c.-23 others(39): Show |
POU6F1 | ENSG00000184271.18 | transcript | ENST00000333640.12 | protein_coding | 1888 | chr12 | TogoVar | ||||||
| POU6F2_chr7_38972909_39473601 | 39454655 | GATATATA others(21): Show |
G | intron_variant | MODIFIER | HG01516.hp2 HG02148.hp2 HG03239.hp1 |
a0001a0002 | a0001c0002a0001c0007a0002c0003 | a0001c0002t0001a0001c0007t0001a0002c0003t0027 | a0001c0002t0001g0084a0001c0007t0001g0106a0002c0003t0027g0169 | 3 | 170 | 0.0177 | -28 | c.148 others(47): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| PPARA_chr22_46145526_46248755 | 46185938 | TATATATA others(21): Show |
T | intron_variant | MODIFIER | HG04184.hp2 NA18952.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0009a0003c0003t0010 | a0001c0001t0009g0091a0003c0003t0010g0031 | 2 | 200 | 0.0100 | -28 | c.-43 others(45): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PPARGC1A_chr4_23787021_23895047 | 23811889 | CTTTTTTT others(21): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0155 | 1 | 342 | 0.0029 | -28 | c.201 others(45): Show |
PPARGC1A | ENSG00000109819.9 | transcript | ENST00000264867.7 | protein_coding | 10/12 | chr4 | TogoVar | ||||||
| PPBP_chr4_73981439_73993190 | 73982164 | CAAAAAAA others(21): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG01069.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 43 | 368 | 0.1169 | -28 | c.*50 others(39): Show |
PPBP | ENSG00000163736.4 | transcript | ENST00000296028.4 | protein_coding | 4274 | chr4 | TogoVar | ||||||
| PPCDC_chr15_75018590_75055726 | 75048928 | CCCTGGCA others(21): Show |
C | intron_variant | MODIFIER | NA18986.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0124 | 1 | 398 | 0.0025 | -28 | c.529 others(43): Show |
PPCDC | ENSG00000138621.12 | transcript | ENST00000342932.8 | protein_coding | 5/5 | chr15 | TogoVar | ||||||
| PPFIA2_chr12_81252975_81764350 | 81415198 | AAAAAAAA others(21): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 168 | 0.0060 | -28 | c.646 others(45): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 7/32 | chr12 | TogoVar | ||||||
| PPFIA2_chr12_81252975_81764350 | 81422128 | GTATATAT others(21): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG02145.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0077a0001c0001t0001g0112a0001c0001t0001g0119others(14): Show | 17 | 168 | 0.1012 | -28 | c.646 others(47): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 7/32 | chr12 | TogoVar | ||||||
| PPFIA2_chr12_81252975_81764350 | 81637236 | ATTTTTTT others(21): Show |
A | intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113 | 1 | 168 | 0.0060 | -28 | c.303 others(47): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | ||||||
| PPIAL4A_chr1_120884771_120895530 | 120889443 | GAAGAAAG others(21): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 280 | 0.0036 | -28 | c.-37 others(37): Show |
PPIAL4A | ENSG00000263353.4 | transcript | ENST00000577856.3 | protein_coding | 327 | chr1 | TogoVar | ||||||
| PPIAL4C_chr1_149578848_149589607 | 149583511 | AAAGAAAG others(21): Show |
A | upstream_gene_variant | MODIFIER | HG01192.hp1 HG01361.hp1 HG02155.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 448 | 0.0067 | -28 | c.-38 others(37): Show |
PPIAL4C | ENSG00000288867.1 | transcript | ENST00000585245.3 | protein_coding | 336 | chr1 | TogoVar | ||||||
| PPIAL4C_chr1_149578848_149589607 | 149583515 | AAAGAAAG others(21): Show |
A | upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 448 | 0.0022 | -28 | c.-38 others(37): Show |
PPIAL4C | ENSG00000288867.1 | transcript | ENST00000585245.3 | protein_coding | 332 | chr1 | TogoVar | ||||||
| PPIAL4C_chr1_149578848_149589607 | 149583519 | AAAGAAAG others(21): Show |
A | upstream_gene_variant | MODIFIER | HG02896.hp1 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 448 | 0.0045 | -28 | c.-37 others(37): Show |
PPIAL4C | ENSG00000288867.1 | transcript | ENST00000585245.3 | protein_coding | 328 | chr1 | TogoVar | ||||||
| PPIAL4C_chr1_149578848_149589607 | 149583523 | AAAGAAAA others(21): Show |
A | upstream_gene_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 448 | 0.0022 | -28 | c.-37 others(37): Show |
PPIAL4C | ENSG00000288867.1 | transcript | ENST00000585245.3 | protein_coding | 324 | chr1 | TogoVar | ||||||
| PPIAL4H_chr1_146339006_146349765 | 146345018 | ATTTCTTT others(21): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp1 HG02698.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 416 | 0.0096 | -28 | c.-33 others(37): Show |
PPIAL4H | ENSG00000270339.4 | transcript | ENST00000584068.4 | protein_coding | 254 | chr1 | TogoVar | ||||||
| PPIL6_chr6_109385215_109445628 | 109397862 | AAATGATT others(21): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0031 | 1 | 396 | 0.0025 | -28 | c.824 others(45): Show |
PPIL6 | ENSG00000185250.16 | transcript | ENST00000521072.7 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
| PPM1E_chr17_58750854_58990179 | 58816768 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0222a0001c0001t0005g0210 | 2 | 312 | 0.0064 | -28 | c.464 others(47): Show |
PPM1E | ENSG00000175175.6 | transcript | ENST00000308249.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PPM1E_chr17_58750854_58990179 | 58816772 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213 | 1 | 312 | 0.0032 | -28 | c.464 others(47): Show |
PPM1E | ENSG00000175175.6 | transcript | ENST00000308249.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PPM1J_chr1_112704998_112720332 | 112706454 | CACACACA others(21): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 422 | 0.0024 | -28 | c.*36 others(39): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3543 | chr1 | TogoVar | ||||||
| PPM1J_chr1_112704998_112720332 | 112706458 | CACACACC others(21): Show |
C | downstream_gene_variant | MODIFIER | HG03195.hp2 HG03239.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006a0001c0001t0002g0016 | 3 | 422 | 0.0071 | -28 | c.*36 others(39): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3539 | chr1 | TogoVar | ||||||
| PPM1J_chr1_112704998_112720332 | 112706460 | CACACCAC others(21): Show |
C | downstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 422 | 0.0024 | -28 | c.*36 others(39): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3537 | chr1 | TogoVar | ||||||
| PPM1J_chr1_112704998_112720332 | 112706462 | CACCACAC others(21): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(15): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0008t0001 | a0001c0001t0001g0002a0001c0001t0001g0021a0001c0001t0001g0027others(6): Show | 18 | 422 | 0.0427 | -28 | c.*36 others(39): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3535 | chr1 | TogoVar | ||||||
| PPM1J_chr1_112704998_112720332 | 112706464 | CCACACAC others(21): Show |
C | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01346.hp1 NA18987.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 5 | 422 | 0.0119 | -28 | c.*36 others(39): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3533 | chr1 | TogoVar | ||||||
| PPM1L_chr3_160751231_161083902 | 160843426 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 206 | 0.0049 | -28 | c.399 others(47): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PPM1L_chr3_160751231_161083902 | 160954896 | CTTCCTTC others(21): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0031 | 1 | 206 | 0.0049 | -28 | c.400 others(45): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PPM1N_chr19_45493443_45507513 | 45493742 | TTATTTTA others(21): Show |
T | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02451.hp1 |
a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0009 | 2 | 436 | 0.0046 | -28 | c.-47 others(39): Show |
PPM1N | ENSG00000213889.11 | transcript | ENST00000451287.7 | protein_coding | 4700 | chr19 | TogoVar | ||||||
| PPP1R12A_chr12_79768568_79940097 | 79899233 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(188): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0127a0001c0001t0001g0130a0001c0001t0001g0188others(187): Show | 191 | 312 | 0.6122 | -28 | c.238 others(47): Show |
PPP1R12A | ENSG00000058272.19 | transcript | ENST00000450142.7 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
| PPP1R12B_chr1_202343699_202597702 | 202373888 | TTGGTCAA others(21): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0026a0001c0001t0060 | a0001c0001t0009g0065a0001c0001t0009g0066a0001c0001t0026g0008others(2): Show | 5 | 254 | 0.0197 | -28 | c.291 others(47): Show |
PPP1R12B | ENSG00000077157.23 | transcript | ENST00000608999.6 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PPP1R13L_chr19_45374638_45410069 | 45397468 | CTCTCTCT others(21): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0109 | 1 | 376 | 0.0027 | -28 | c.199 others(43): Show |
PPP1R13L | ENSG00000104881.16 | transcript | ENST00000360957.10 | protein_coding | 3/12 | chr19 | TogoVar | ||||||
| PPP1R16B_chr20_38800697_38928024 | 38895946 | TCCCTCCC others(21): Show |
T | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0108 | 1 | 244 | 0.0041 | -28 | c.467 others(43): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PPP1R16B_chr20_38800697_38928024 | 38896078 | TCCTCCCT others(21): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp1 HG02723.hp2 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0043a0001c0003t0005g0045a0001c0003t0005g0175 | 3 | 244 | 0.0123 | -28 | c.467 others(43): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PPP1R16B_chr20_38800697_38928024 | 38896104 | TCCCCTCC others(21): Show |
T | intron_variant | MODIFIER | HG02145.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0041a0001c0001t0006g0182 | 2 | 244 | 0.0082 | -28 | c.467 others(43): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | chr20 | TogoVar | ||||||
| PPP1R16B_chr20_38800697_38928024 | 38896112 | CTTCCTTC others(21): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 244 | 0.0041 | -28 | c.467 others(43): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |