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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCDHGB3_chr5_141365242_141517975 | 141410849 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 296 | 0.0034 | 21 | c.241 others(42): Show |
PCDHGB3 | ENSG00000262209.3 | transcript | ENST00000576222.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB3_chr5_141365242_141517975 | 141454796 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0277 | 1 | 296 | 0.0034 | 21 | c.241 others(42): Show |
PCDHGB3 | ENSG00000262209.3 | transcript | ENST00000576222.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB4_chr5_141382698_141517975 | 141410849 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 294 | 0.0034 | 21 | c.239 others(42): Show |
PCDHGB4 | ENSG00000253953.3 | transcript | ENST00000519479.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB4_chr5_141382698_141517975 | 141454796 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 294 | 0.0034 | 21 | c.239 others(42): Show |
PCDHGB4 | ENSG00000253953.3 | transcript | ENST00000519479.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB5_chr5_141392947_141517975 | 141410849 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 300 | 0.0033 | 21 | c.239 others(42): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB5_chr5_141392947_141517975 | 141454796 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 300 | 0.0033 | 21 | c.239 others(42): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB6_chr5_141403021_141517975 | 141410849 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 | 1 | 302 | 0.0033 | 21 | c.241 others(38): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB6_chr5_141403021_141517975 | 141454796 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0174 | 1 | 302 | 0.0033 | 21 | c.241 others(42): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB7_chr5_141412677_141517975 | 141454796 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0289 | 1 | 306 | 0.0033 | 21 | c.241 others(42): Show |
PCDHGB7 | ENSG00000254122.3 | transcript | ENST00000398594.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCED1B_chr12_47074621_47241660 | 47089457 | A | AAATACAT others(14): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0066 | 2 | 322 | 0.0062 | 21 | c.-60 others(40): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 732349 | C | CCCTTCCC others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(60): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0007a0001c0001t0001g0051a0001c0001t0001g0052others(60): Show | 63 | 366 | 0.1721 | 21 | c.-10 others(38): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF6_chr10_103297796_103356140 | 103302452 | G | GTTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG00738.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0032a0002c0002t0001g0037a0002c0002t0001g0040others(1): Show | 4 | 372 | 0.0108 | 21 | c.*14 others(32): Show |
PCGF6 | ENSG00000156374.16 | transcript | ENST00000369847.4 | protein_coding | 343 | chr10 | TogoVar | ||||||
PCLAF_chr15_64359304_64386441 | 64377488 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 298 | 0.0034 | 21 | c.128 others(36): Show |
PCLAF | ENSG00000166803.14 | transcript | ENST00000300035.9 | protein_coding | 2/3 | chr15 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 82751473 | A | AAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 HG03225.hp1 HG03471.hp2 others(1): Show |
a0001a0060 | a0001c0001a0001c0019a0060c0074 | a0001c0001t0001a0001c0019t0003a0060c0074t0003 | a0001c0001t0001g0133a0001c0001t0001g0148a0001c0019t0003g0132others(1): Show | 4 | 188 | 0.0213 | 21 | c.*71 others(32): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 2538 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 82794459 | C | CTGTTTTT others(14): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02886.hp1 |
a0001a0032 | a0001c0003a0032c0050 | a0001c0003t0029a0032c0050t0008 | a0001c0003t0029g0117a0032c0050t0008g0073 | 2 | 188 | 0.0106 | 21 | c.150 others(42): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 22/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83050227 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02273.hp2 HG03688.hp2 |
a0001a0008a0026 | a0001c0001a0008c0026a0026c0112 | a0001c0001t0002a0008c0026t0002a0026c0112t0002 | a0001c0001t0002g0029a0008c0026t0002g0066a0026c0112t0002g0147 | 3 | 188 | 0.0160 | 21 | c.330 others(42): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83057348 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 188 | 0.0053 | 21 | c.330 others(42): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83057348 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0020 | 1 | 188 | 0.0053 | 21 | c.330 others(42): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83078519 | C | CATTATTA others(14): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01884.hp2 HG02109.hp2 others(18): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0002c0004others(12): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(15): Show | a0001c0001t0001g0133a0001c0003t0001g0032a0001c0003t0002g0185others(18): Show | 21 | 188 | 0.1117 | 21 | c.330 others(42): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83093492 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0021 | a0021c0020 | a0021c0020t0014 | a0021c0020t0014g0026 | 1 | 188 | 0.0053 | 21 | c.330 others(42): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83093492 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02145.hp2 NA18953.hp2 |
a0001a0005a0065 | a0001c0066a0005c0005a0065c0109 | a0001c0066t0006a0005c0005t0028a0065c0109t0004 | a0001c0066t0006g0124a0005c0005t0028g0153a0065c0109t0004g0072 | 3 | 188 | 0.0160 | 21 | c.330 others(42): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83093492 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG01192.hp2 others(13): Show |
a0002a0003a0004others(8): Show | a0002c0004a0002c0007a0003c0022others(9): Show | a0002c0004t0007a0002c0007t0001a0003c0022t0003others(9): Show | a0002c0004t0007g0085a0002c0007t0001g0100a0003c0022t0003g0167others(13): Show | 16 | 188 | 0.0851 | 21 | c.330 others(42): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83093492 | A | ATATATTT others(14): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0008 | a0008c0102 | a0008c0102t0002 | a0008c0102t0002g0055 | 1 | 188 | 0.0053 | 21 | c.330 others(42): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCM1_chr8_17917988_18034948 | 17927124 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0010 | a0010c0014 | a0010c0014t0023 | a0010c0014t0023g0355 | 1 | 368 | 0.0027 | 21 | c.-23 others(38): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PCMT1_chr6_149744741_149816419 | 149758208 | C | CTTTCTTT others(14): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02258.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0195a0001c0001t0001g0213 | 3 | 334 | 0.0090 | 21 | c.55+ others(36): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PCMT1_chr6_149744741_149816419 | 149762651 | A | ATATATCT others(14): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02040.hp1 NA18942.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0094a0002c0002t0002g0096a0002c0002t0002g0097others(1): Show | 4 | 334 | 0.0120 | 21 | c.56- others(36): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PCMTD2_chr20_64250748_64281226 | 64255723 | A | AGGCGGCA others(14): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 332 | 0.0030 | 21 | c.-17 others(30): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 24 | chr20 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46377882 | A | AACCCCCC others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00621.hp1 others(112): Show |
a0003a0004a0005others(22): Show | a0003c0003a0003c0080a0003c0084others(29): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0005others(33): Show | a0003c0003t0001g0124a0003c0003t0001g0125a0003c0003t0001g0132others(112): Show | 115 | 332 | 0.3464 | 21 | c.316 others(40): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910043 | T | TCCTCCTC others(14): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0256 | 1 | 352 | 0.0028 | 21 | c.153 others(38): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910112 | T | TCCTCCTC others(14): Show |
intron_variant | MODIFIER | HG00733.hp1 NA18522.hp1 |
a0004 | a0004c0011 | a0004c0011t0032 | a0004c0011t0032g0112a0004c0011t0032g0113 | 2 | 352 | 0.0057 | 21 | c.153 others(38): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71003080 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03453.hp2 |
a0001 | a0001c0010 | a0001c0010t0071a0001c0010t0072 | a0001c0010t0071g0351a0001c0010t0072g0350 | 2 | 352 | 0.0057 | 21 | c.263 others(40): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 8/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71119428 | C | CTTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG01071.hp1 HG02630.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(4): Show | a0001c0001t0001g0215a0001c0001t0008g0173a0001c0001t0010g0155others(6): Show | 9 | 352 | 0.0256 | 21 | c.*94 others(32): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 4047 | chr14 | TogoVar | ||||||
PCSK1_chr5_96385333_96438248 | 96412752 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03041.hp2 |
a0005 | a0005c0008a0005c0011 | a0005c0008t0011a0005c0011t0011 | a0005c0008t0011g0153a0005c0011t0011g0234 | 2 | 392 | 0.0051 | 21 | c.710 others(36): Show |
PCSK1 | ENSG00000175426.11 | transcript | ENST00000311106.8 | protein_coding | 6/13 | chr5 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17484865 | G | GATAGAAT others(14): Show |
downstream_gene_variant | MODIFIER | NA18983.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163a0001c0001t0002g0166 | 2 | 274 | 0.0073 | 21 | c.*27 others(32): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 288 | chr20 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101316910 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0019 | a0001c0019t0005 | a0001c0019t0005g0304 | 1 | 336 | 0.0030 | 21 | c.256 others(40): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 19/21 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101392593 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02965.hp1 NA19043.hp2 |
a0001a0002 | a0001c0002a0002c0017 | a0001c0002t0003a0002c0017t0003 | a0001c0002t0003g0243a0001c0002t0003g0266a0002c0017t0003g0021 | 3 | 336 | 0.0089 | 21 | c.120 others(38): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101490312 | G | GCAGGCCG others(14): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(101): Show |
a0000a0001a0003others(5): Show | a0000c0028a0001c0001a0001c0002others(21): Show | a0000c0028t0017a0001c0001t0001a0001c0001t0002others(34): Show | a0000c0028t0017g0001a0001c0001t0001g0171a0001c0001t0001g0173others(101): Show | 104 | 336 | 0.3095 | 21 | c.-66 others(30): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 606 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101490312 | G | GCAGGCCG others(14): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0206a0001c0002t0003g0243 | 2 | 336 | 0.0060 | 21 | c.-64 others(30): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 606 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101490320 | T | TGCAGGTG others(14): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 HG01516.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0001a0001c0007t0002 | a0001c0003t0001g0073a0001c0007t0002g0107 | 2 | 336 | 0.0060 | 21 | c.-67 others(30): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 614 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101490383 | T | TGCAGGTG others(14): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00639.hp1 others(22): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(16): Show | a0001c0001t0001g0200a0001c0001t0001g0236a0001c0001t0001g0246others(22): Show | 25 | 336 | 0.0744 | 21 | c.-73 others(30): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 677 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101490404 | C | CGCAGGTG others(14): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(116): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(56): Show | a0001c0001t0002g0292a0001c0001t0002g0296a0001c0001t0009g0295others(116): Show | 119 | 336 | 0.3542 | 21 | c.-75 others(30): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 698 | chr15 | TogoVar | ||||||
PCSK7_chr11_117199337_117237073 | 117215406 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG00741.hp1 NA19064.hp2 NA19087.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0037a0001c0003t0002g0110a0001c0003t0002g0276 | 3 | 460 | 0.0065 | 21 | c.153 others(40): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | ||||||
PCYT1A_chr3_196229368_196292726 | 196250383 | G | GGCTGAGG others(14): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0288 | 1 | 310 | 0.0032 | 21 | c.218 others(38): Show |
PCYT1A | ENSG00000161217.12 | transcript | ENST00000431016.6 | protein_coding | 3/8 | chr3 | TogoVar | ||||||
PC_chr11_66843420_66963383 | 66903773 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 274 | 0.0037 | 21 | c.1-3 others(36): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 3/22 | chr11 | TogoVar | ||||||
PC_chr11_66843420_66963383 | 66959935 | A | ATATATAT others(14): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270a0001c0001t0002g0271 | 2 | 274 | 0.0073 | 21 | c.-18 others(32): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 1553 | chr11 | TogoVar | ||||||
PDCL2_chr4_55551519_55597245 | 55593359 | T | TAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 376 | 0.0027 | 21 | c.-12 others(32): Show |
PDCL2 | ENSG00000163440.12 | transcript | ENST00000295645.9 | protein_coding | 1115 | chr4 | TogoVar | ||||||
PDC_chr1_186438566_186466114 | 186455797 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00673.hp1 HG03017.hp2 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0079 | 3 | 404 | 0.0074 | 21 | c.-25 others(38): Show |
PDC | ENSG00000116703.14 | transcript | ENST00000391997.3 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
PDE10A_chr6_165322289_165668241 | 165542612 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03710.hp1 NA19010.hp1 NA19012.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0011a0001c0004t0026 | a0001c0001t0002g0090a0001c0001t0011g0183a0001c0004t0026g0166 | 3 | 222 | 0.0135 | 21 | c.994 others(36): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 2/21 | chr6 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177957910 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02300.hp1 HG02615.hp2 HG02886.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0005a0001c0001t0017a0001c0006t0055others(2): Show | a0001c0001t0005g0060a0001c0001t0017g0095a0001c0006t0055g0006others(2): Show | 5 | 170 | 0.0294 | 21 | c.107 others(42): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | ||||||
PDE1A_chr2_182135041_182432036 | 182364466 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0228 | 1 | 264 | 0.0038 | 21 | c.53+ others(38): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 1/14 | chr2 | TogoVar |