view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHKG2_chr16_30743425_30766176 | 30749106 | C | CTGCTGCT others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01081.hp2 HG01099.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0018 others(2): Show |
6 | 118 | 0.0508 | 9 | c.95+ others(22): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PHKG2_chr16_30743425_30766176 | 30749130 | G | GTGGTGGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00673.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0018 others(22): Show |
50 | 106 | 0.4717 | 9 | c.95+ others(22): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62735564 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02723.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0002a0001c0016 | a0001c0002t0001a0001c0002t0015a0001c0016t0001 | a0001c0002t0001g0107 a0001c0002t0001g0115 a0001c0002t0001g0139 others(6): Show |
9 | 125 | 0.0720 | 9 | c.157 others(30): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62898013 | C | CTCTTCTC others(2): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02735.hp1 HG02738.hp1 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0006a0003c0004t0018 | a0001c0002t0006g0005 a0001c0002t0006g0049 a0003c0004t0018g0061 |
3 | 190 | 0.0158 | 9 | c.244 others(28): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 6/16 | chr18 | TogoVar | |||||||
PHLPP1_chr18_62710541_62985433 | 62898015 | C | CTTCTCCT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01081.hp2 others(27): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0030 others(27): Show |
30 | 144 | 0.2083 | 9 | c.244 others(28): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP2_chr16_71639924_71729701 | 71697215 | T | TAAATAAA others(2): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02523.hp1 HG03688.hp2 others(5): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0002 | a0001c0002t0002g0144 a0001c0005t0002g0162 a0001c0005t0002g0163 others(5): Show |
8 | 199 | 0.0402 | 9 | c.418 others(26): Show |
PHLPP2 | ENSG00000040199.18 | transcript | ENST00000568954.5 | protein_coding | 3/18 | chr16 | TogoVar | |||||||
PHTF1_chr1_113691831_113764486 | 113715648 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01516.hp2 HG01517.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0102 a0001c0001t0001g0114 others(18): Show |
21 | 56 | 0.3750 | 9 | c.624 others(26): Show |
PHTF1 | ENSG00000116793.16 | transcript | ENST00000369604.6 | protein_coding | 7/18 | chr1 | TogoVar | |||||||
PHTF2_chr7_77793773_77962225 | 77809224 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG01192.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0031 a0001c0001t0001g0301 a0001c0001t0003g0305 others(40): Show |
43 | 140 | 0.3071 | 9 | c.-36 others(28): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHTF2_chr7_77793773_77962225 | 77841075 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01261.hp2 HG01884.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0150 a0001c0001t0001g0226 a0001c0001t0001g0227 others(11): Show |
14 | 102 | 0.1373 | 9 | c.45+ others(22): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHTF2_chr7_77793773_77962225 | 77947125 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp1 others(71): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0017others(11): Show | a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 others(71): Show |
74 | 311 | 0.2379 | 9 | c.185 others(28): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHYHIPL_chr10_59171643_59252770 | 59244562 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG00741.hp1 others(25): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006 | a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 others(25): Show |
28 | 43 | 0.6512 | 9 | c.597 others(24): Show |
PHYHIPL | ENSG00000165443.12 | transcript | ENST00000373880.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PHYH_chr10_13272799_13305064 | 13274947 | A | AAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01168.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0262 a0001c0001t0001g0264 others(3): Show |
6 | 432 | 0.0139 | 9 | c.*33 others(20): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 2851 | chr10 | TogoVar | |||||||
PHYH_chr10_13272799_13305064 | 13283131 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01361.hp1 HG01891.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0069 others(21): Show |
24 | 33 | 0.7273 | 9 | c.828 others(24): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
PHYH_chr10_13272799_13305064 | 13298718 | C | CACCACTA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02258.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0179 a0001c0001t0002g0163 a0001c0002t0001g0180 others(6): Show |
9 | 32 | 0.2813 | 9 | c.76- others(22): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
PHYH_chr10_13272799_13305064 | 13298718 | C | CACTACTA others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01106.hp2 HG01169.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(6): Show | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 others(14): Show |
18 | 41 | 0.4390 | 9 | c.76- others(22): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
PHYH_chr10_13272799_13305064 | 13298767 | A | ACTACTAC others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01168.hp1 HG01169.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0050 others(24): Show |
30 | 186 | 0.1613 | 9 | c.76- others(22): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
PHYKPL_chr5_178203471_178237802 | 178203504 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00673.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0030 others(25): Show |
33 | 78 | 0.4231 | 9 | c.*54 others(20): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 4966 | chr5 | TogoVar | |||||||
PI4K2A_chr10_97635671_97681434 | 97642819 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02895.hp2 HG02897.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0015 | a0001c0003t0003g0097 a0001c0003t0003g0098 a0001c0003t0003g0123 others(4): Show |
7 | 301 | 0.0233 | 9 | c.435 others(26): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97642823 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG03516.hp2 HG04228.hp1 NA20129.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0007 | a0001c0002t0002g0068 a0001c0002t0006g0071 a0001c0002t0006g0073 others(1): Show |
4 | 290 | 0.0138 | 9 | c.435 others(26): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97650278 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01175.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0002a0001c0002t0004others(9): Show | a0001c0001t0002g0141 a0001c0001t0002g0180 a0001c0002t0002g0068 others(30): Show |
33 | 118 | 0.2797 | 9 | c.436 others(24): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PI4K2B_chr4_25229033_25284204 | 25258213 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00621.hp2 others(133): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 others(92): Show |
136 | 417 | 0.3261 | 9 | c.757 others(24): Show |
PI4K2B | ENSG00000038210.14 | transcript | ENST00000264864.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PI4K2B_chr4_25229033_25284204 | 25265198 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG00741.hp2 others(45): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0009 | a0001c0001t0004a0001c0001t0005a0001c0001t0013others(4): Show | a0001c0001t0004g0011 a0001c0001t0004g0023 a0001c0001t0004g0024 others(34): Show |
48 | 134 | 0.3582 | 9 | c.107 others(28): Show |
PI4K2B | ENSG00000038210.14 | transcript | ENST00000264864.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PI4KA_chr22_20702691_20863811 | 20825069 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01891.hp1 HG02258.hp1 others(3): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0002g0260 a0001c0002t0001g0029 a0001c0004t0001g0041 others(3): Show |
6 | 216 | 0.0278 | 9 | c.368 others(24): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 3/54 | chr22 | TogoVar | |||||||
PIAS1_chr15_68049315_68198847 | 68177278 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00642.hp2 others(24): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 others(24): Show |
27 | 91 | 0.2967 | 9 | c.148 others(26): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PIAS1_chr15_68049315_68198847 | 68179564 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01978.hp2 HG02723.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032 | a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0212 others(2): Show |
5 | 34 | 0.1471 | 9 | c.148 others(28): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46806353 | C | CTTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(16): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0010a0001c0001t0034a0001c0001t0036others(10): Show | a0001c0001t0010g0063 a0001c0001t0010g0077 a0001c0001t0010g0091 others(16): Show |
19 | 110 | 0.1727 | 9 | c.*60 others(20): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 6079 | chr18 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72858023 | T | TTGCTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(43): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0002c0014others(3): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(5): Show | a0001c0001t0001g0186 a0001c0001t0001g0331 a0001c0001t0001g0332 others(43): Show |
46 | 68 | 0.6765 | 9 | c.132 others(28): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72951918 | T | TCTTGTTG others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 NA18939.hp1 NA18952.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 others(5): Show |
8 | 344 | 0.0233 | 9 | c.183 others(30): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72987858 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01884.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0210 a0002c0002t0002g0212 a0002c0002t0002g0221 others(3): Show |
6 | 131 | 0.0458 | 9 | c.205 others(30): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 73001582 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(95): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0006t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(95): Show |
98 | 104 | 0.9423 | 9 | c.222 others(28): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 73010810 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG01975.hp1 others(16): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0002t0002a0002c0005t0002 | a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0122 others(16): Show |
19 | 47 | 0.4043 | 9 | c.222 others(28): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PICALM_chr11_85952175_86074084 | 86036945 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(190): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0069 a0001c0001t0001g0070 others(187): Show |
193 | 319 | 0.6050 | 9 | c.131 others(26): Show |
PICALM | ENSG00000073921.18 | transcript | ENST00000393346.8 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
PICALM_chr11_85952175_86074084 | 86056134 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01358.hp2 HG01884.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0082 others(14): Show |
17 | 163 | 0.1043 | 9 | c.130 others(28): Show |
PICALM | ENSG00000073921.18 | transcript | ENST00000393346.8 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
PICK1_chr22_38052404_38080701 | 38061343 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02055.hp1 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0056 a0001c0001t0001g0063 others(1): Show |
5 | 263 | 0.0190 | 9 | c.153 others(26): Show |
PICK1 | ENSG00000100151.16 | transcript | ENST00000356976.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PID1_chr2_229018973_229276287 | 229031215 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00735.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0027 others(35): Show |
38 | 132 | 0.2879 | 9 | c.178 others(26): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229054720 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0059 a0001c0001t0005g0069 a0001c0001t0006g0060 |
3 | 235 | 0.0128 | 9 | c.178 others(28): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229184022 | A | ATCCCATA others(2): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03486.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0020 | a0001c0001t0003g0029 a0001c0001t0003g0233 a0001c0002t0020g0148 |
3 | 254 | 0.0118 | 9 | c.31- others(26): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88726660 | T | TCAGCGGG others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp2 others(39): Show |
a0002a0004a0005others(15): Show | a0002c0031a0004c0004a0004c0020others(25): Show | a0002c0031t0020a0004c0004t0001a0004c0020t0001others(27): Show | a0002c0031t0020g0124 a0004c0004t0001g0038 a0004c0004t0001g0049 others(39): Show |
42 | 279 | 0.1505 | 9 | c.370 others(24): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 25/50 | chr16 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10883816 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01975.hp2 HG02280.hp1 others(12): Show |
a0001a0002a0005others(5): Show | a0001c0002a0001c0003a0001c0021others(10): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0002others(12): Show | a0001c0002t0001g0097 a0001c0002t0002g0092 a0001c0003t0002g0032 others(12): Show |
15 | 58 | 0.2586 | 9 | c.330 others(28): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 4/55 | chr18 | TogoVar | |||||||
PIF1_chr15_64810632_64830647 | 64817132 | G | GTATACAA others(2): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02280.hp2 HG02602.hp2 others(7): Show |
a0002a0010a0016 | a0002c0002a0010c0016a0016c0027 | a0002c0002t0001a0002c0002t0003a0010c0016t0001others(1): Show | a0002c0002t0001g0058 a0002c0002t0003g0010 a0002c0002t0003g0116 others(2): Show |
10 | 346 | 0.0289 | 9 | c.167 others(26): Show |
PIF1 | ENSG00000140451.13 | transcript | ENST00000559239.2 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
PIGC_chr1_172436457_172449069 | 172437728 | T | TATAATAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG01515.hp1 HG01515.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0002g0002 others(2): Show |
16 | 204 | 0.0784 | 9 | c.*39 others(20): Show |
PIGC | ENSG00000135845.10 | transcript | ENST00000344529.5 | protein_coding | 3728 | chr1 | TogoVar | |||||||
PIGF_chr2_46575937_46622041 | 46578569 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01167.hp1 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0021 a0001c0002t0002g0030 others(7): Show |
17 | 65 | 0.2615 | 9 | c.*29 others(20): Show |
PIGF | ENSG00000151665.13 | transcript | ENST00000281382.11 | protein_coding | 2367 | chr2 | TogoVar | |||||||
PIGH_chr14_67584318_67605268 | 67596295 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18945.hp1 NA18952.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 a0001c0001t0003g0089 a0001c0001t0003g0090 others(1): Show |
7 | 14 | 0.5000 | 9 | c.181 others(26): Show |
PIGH | ENSG00000100564.9 | transcript | ENST00000216452.9 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
PIGH_chr14_67584318_67605268 | 67599950 | A | ACCAAAGA others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01516.hp2 HG01517.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 a0001c0001t0004g0009 a0001c0001t0004g0011 others(7): Show |
46 | 460 | 0.1000 | 9 | c.180 others(22): Show |
PIGH | ENSG00000100564.9 | transcript | ENST00000216452.9 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
PIGL_chr17_16212210_16331411 | 16213489 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01168.hp1 HG01175.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0023 a0001c0001t0001g0046 a0001c0001t0001g0088 others(9): Show |
12 | 103 | 0.1165 | 9 | c.-37 others(20): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 3720 | chr17 | TogoVar | |||||||
PIGL_chr17_16212210_16331411 | 16311467 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01175.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0030 a0001c0001t0002g0033 a0001c0001t0002g0054 others(5): Show |
8 | 10 | 0.8000 | 9 | c.427 others(26): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34650700 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01070.hp1 HG01071.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0151 others(21): Show |
24 | 65 | 0.3692 | 9 | c.196 others(26): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 2/11 | chr20 | TogoVar | |||||||
PIGX_chr3_196707377_196741007 | 196732257 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02486.hp2 HG03704.hp1 others(1): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0003a0001c0007t0023 | a0001c0002t0003g0005 a0001c0002t0003g0192 a0001c0002t0003g0213 others(1): Show |
4 | 384 | 0.0104 | 9 | c.633 others(26): Show |
PIGX | ENSG00000163964.18 | transcript | ENST00000392391.9 | protein_coding | 5/5 | chr3 | TogoVar | |||||||
PIGZ_chr3_196941356_196973833 | 196949060 | C | CCCCTTCC others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG01358.hp2 others(20): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0002a0002c0005others(9): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(10): Show | a0001c0001t0001g0177 a0001c0001t0001g0248 a0001c0001t0001g0288 others(18): Show |
23 | 417 | 0.0552 | 9 | c.212 others(24): Show |
PIGZ | ENSG00000119227.8 | transcript | ENST00000412723.6 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067662 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01255.hp2 HG01975.hp2 others(18): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0003 | a0001c0001t0001a0001c0007t0001a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(7): Show |
21 | 333 | 0.0631 | 9 | c.*20 others(18): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 135 | chr11 | TogoVar |