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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHKB_chr16_47456331_47706523 | 47583558 | TTTAACTA others(2): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG03540.hp1 NA19030.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0048 |
3 | 96 | 0.0313 | -9 | c.774 others(26): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 8/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PHKG1_chr7_56075295_56097952 | 56087194 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01243.hp1 HG01433.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0022 others(10): Show |
18 | 170 | 0.1059 | -9 | c.263 others(24): Show |
PHKG1 | ENSG00000164776.11 | transcript | ENST00000297373.7 | protein_coding | 3/9 | chr7 | TogoVar | |||||||
PHKG2_chr16_30743425_30766176 | 30748999 | GGGTGGTG others(2): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG01346.hp2 HG01943.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 others(5): Show |
13 | 148 | 0.0878 | -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 | 30749240 | GTGCTGGT others(2): Show |
G | intron_variant | MODIFIER | HG02896.hp1 HG03225.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0089 |
3 | 262 | 0.0115 | -9 | c.95+ others(22): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PHLDB1_chr11_118602615_118663028 | 118607329 | TGTGGTGG others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01167.hp1 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0007a0001c0002t0002a0001c0003t0003others(4): Show | a0001c0001t0007g0028 a0001c0001t0007g0285 a0001c0001t0007g0286 others(20): Show |
27 | 51 | 0.5294 | -9 | c.-39 others(18): Show |
PHLDB1 | ENSG00000019144.20 | transcript | ENST00000600882.6 | protein_coding | 285 | chr11 | TogoVar | |||||||
PHLDB2_chr3_111854265_111981517 | 111961903 | GAGACTCA others(2): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG01358.hp1 others(9): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0007a0001c0003t0020 | a0001c0003t0001g0152 a0001c0003t0007g0268 a0001c0003t0007g0269 others(9): Show |
12 | 284 | 0.0423 | -9 | c.287 others(26): Show |
PHLDB2 | ENSG00000144824.21 | transcript | ENST00000431670.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62714196 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02630.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0012a0002c0003t0001 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 others(4): Show |
7 | 124 | 0.0565 | -9 | c.-14 others(20): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1344 | chr18 | TogoVar | |||||||
PHLPP1_chr18_62710541_62985433 | 62888328 | TGTGTGTA others(2): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp1 HG01169.hp1 |
a0003 | a0003c0004 | a0003c0004t0008a0003c0004t0017 | a0003c0004t0008g0058 a0003c0004t0008g0059 a0003c0004t0017g0057 |
3 | 190 | 0.0158 | -9 | c.206 others(28): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 4/16 | chr18 | TogoVar | |||||||
PHOSPHO1_chr17_49218366_49235787 | 49220846 | AAATAATA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00741.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0018 others(12): Show |
37 | 147 | 0.2517 | -9 | c.*33 others(20): Show |
PHOSPHO1 | ENSG00000173868.12 | transcript | ENST00000310544.9 | protein_coding | 2519 | chr17 | TogoVar | |||||||
PHOX2A_chr11_72234077_72249176 | 72240115 | GGCGCCCG others(2): Show |
G | disruptive_inframe_deletion | MODERATE | HG01884.hp2 HG02280.hp1 HG02615.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0018 a0002c0002t0003g0017 a0002c0002t0003g0020 others(1): Show |
7 | 364 | 0.0192 | -9 | c.480 others(16): Show |
p.Ala others(13): Show |
PHOX2A | ENSG00000165462.5 | transcript | ENST00000298231.5 | protein_coding | 3/3 | 660/1699 | 480/855 | 160/284 | chr11 | TogoVar | |||
PHRF1_chr11_571470_617222 | 615468 | CCAGGTGT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02717.hp1 others(1): Show |
a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0059 a0002c0011t0001g0066 a0002c0011t0001g0166 others(1): Show |
4 | 278 | 0.0144 | -9 | c.*36 others(20): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3247 | chr11 | TogoVar | |||||||
PHTF1_chr1_113691831_113764486 | 113696649 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00597.hp1 others(47): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0003c0009t0001 | a0001c0001t0001g0003 a0001c0001t0001g0102 a0001c0001t0001g0103 others(46): Show |
50 | 146 | 0.3425 | -9 | c.*10 others(20): Show |
PHTF1 | ENSG00000116793.16 | transcript | ENST00000369604.6 | protein_coding | 181 | chr1 | TogoVar | |||||||
PHTF2_chr7_77793773_77962225 | 77804011 | TAAGTGTA others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02486.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 others(1): Show |
4 | 312 | 0.0128 | -9 | c.-36 others(26): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 1/18 | chr7 | TogoVar | |||||||
PHTF2_chr7_77793773_77962225 | 77912710 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG02109.hp1 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(1): Show | a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0279 others(6): Show |
9 | 49 | 0.1837 | -9 | c.674 others(26): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHTF2_chr7_77793773_77962225 | 77925495 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02717.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0021a0001c0002t0002 | a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 others(4): Show |
7 | 57 | 0.1228 | -9 | c.101 others(28): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHTF2_chr7_77793773_77962225 | 77927172 | AAAAAAAT others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00741.hp2 others(45): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0022a0001c0002t0025others(1): Show | a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 others(45): Show |
48 | 308 | 0.1558 | -9 | c.101 others(28): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHTF2_chr7_77793773_77962225 | 77959646 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02717.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021 | a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 others(4): Show |
7 | 75 | 0.0933 | -9 | c.*47 others(20): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 2422 | chr7 | TogoVar | |||||||
PHYHIPL_chr10_59171643_59252770 | 59173921 | GTTTTTTT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01433.hp2 HG02809.hp2 HG02965.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 others(3): Show |
6 | 49 | 0.1224 | -9 | c.-29 others(20): Show |
PHYHIPL | ENSG00000165443.12 | transcript | ENST00000373880.9 | protein_coding | 2721 | chr10 | TogoVar | |||||||
PHYH_chr10_13272799_13305064 | 13298922 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG02257.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0148 a0001c0001t0001g0192 a0001c0001t0003g0160 others(1): Show |
4 | 347 | 0.0115 | -9 | c.76- others(22): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
PHYKPL_chr5_178203471_178237802 | 178213501 | TCCACGTG others(2): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01934.hp2 HG02145.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0155 others(9): Show |
14 | 438 | 0.0320 | -9 | c.117 others(26): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 10/12 | chr5 | TogoVar | |||||||
PI4K2A_chr10_97635671_97681434 | 97678922 | TGTGTGTG others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01928.hp2 HG02040.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0037 a0001c0002t0004g0039 a0001c0002t0004g0050 others(2): Show |
5 | 322 | 0.0155 | -9 | c.*51 others(20): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2489 | chr10 | TogoVar | |||||||
PI4KA_chr22_20702691_20863811 | 20767936 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01257.hp2 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0013a0001c0032others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0001others(6): Show | a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 others(22): Show |
25 | 113 | 0.2212 | -9 | c.232 others(28): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 19/54 | chr22 | TogoVar | |||||||
PI4KA_chr22_20702691_20863811 | 20817734 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01346.hp2 HG01358.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0032a0002c0009others(5): Show | a0001c0001t0001a0001c0032t0001a0002c0009t0001others(5): Show | a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 others(19): Show |
22 | 40 | 0.5500 | -9 | c.856 others(24): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 7/54 | chr22 | TogoVar | |||||||
PIBF1_chr13_72777133_73021461 | 72832071 | CCTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01081.hp2 HG01891.hp2 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0107 a0002c0002t0001g0113 a0002c0002t0001g0117 others(10): Show |
13 | 118 | 0.1102 | -9 | c.109 others(28): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 8/17 | chr13 | TogoVar | |||||||
PIBF1_chr13_72777133_73021461 | 72908850 | ACCAGCCT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp1 others(9): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0005c0011t0001 | a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0334 others(9): Show |
12 | 344 | 0.0349 | -9 | c.163 others(26): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72949300 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01106.hp1 others(7): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0011 | a0001c0001t0001a0001c0006t0002a0005c0011t0001 | a0001c0001t0001g0331 a0001c0001t0001g0334 a0001c0001t0001g0336 others(7): Show |
10 | 72 | 0.1389 | -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 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp1 others(9): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0005c0011t0001 | a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0334 others(9): Show |
12 | 137 | 0.0876 | -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 | 73012758 | CAATAATA others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02451.hp2 others(1): Show |
a0001a0009 | a0001c0006a0009c0007 | a0001c0006t0002a0009c0007t0002 | a0001c0006t0002g0344 a0001c0006t0002g0345 a0001c0006t0002g0346 others(1): Show |
4 | 265 | 0.0151 | -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 | 85988658 | TGAGGAAG others(2): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG03209.hp2 HG03471.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0261 |
3 | 356 | 0.0084 | -9 | c.140 others(28): Show |
PICALM | ENSG00000073921.18 | transcript | ENST00000393346.8 | protein_coding | 13/19 | chr11 | TogoVar | |||||||
PICALM_chr11_85952175_86074084 | 86061330 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(164): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0069 a0001c0001t0001g0070 others(164): Show |
167 | 261 | 0.6398 | -9 | c.130 others(26): Show |
PICALM | ENSG00000073921.18 | transcript | ENST00000393346.8 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229071435 | GCACTCTG others(2): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG02886.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0067 a0001c0001t0001g0083 a0001c0001t0001g0197 others(1): Show |
4 | 254 | 0.0157 | -9 | c.178 others(28): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229184280 | TATATATC others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01496.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0090 a0001c0001t0004g0251 a0001c0001t0008g0016 |
3 | 254 | 0.0118 | -9 | c.31- others(26): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229184296 | ATATCCCA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(32): Show |
35 | 247 | 0.1417 | -9 | c.31- others(26): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229184351 | TATATCAC others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(117): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0035 others(117): Show |
120 | 254 | 0.4724 | -9 | c.31- others(26): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
PIDD1_chr11_794184_810231 | 810009 | TCTCCGCC others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00544.hp1 others(101): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0008a0001c0019others(4): Show | a0001c0001t0001a0001c0008t0001a0001c0019t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(10): Show |
104 | 406 | 0.2562 | -9 | c.-49 others(20): Show |
PIDD1 | ENSG00000177595.19 | transcript | ENST00000347755.10 | protein_coding | 4779 | chr11 | TogoVar | |||||||
PIERCE2_chr15_55403495_55423798 | 55421899 | TATAATAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01069.hp2 others(35): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0148 a0001c0001t0002g0017 others(21): Show |
38 | 98 | 0.3878 | -9 | c.*33 others(20): Show |
PIERCE2 | ENSG00000261652.3 | transcript | ENST00000569691.2 | protein_coding | 3102 | chr15 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10731175 | GATTATAT others(2): Show |
G | intron_variant | MODIFIER | HG01123.hp1 HG01192.hp2 HG02148.hp2 others(7): Show |
a0001a0005a0016 | a0001c0002a0001c0007a0001c0028others(5): Show | a0001c0002t0001a0001c0007t0001a0001c0028t0001others(5): Show | a0001c0002t0001g0155 a0001c0007t0001g0101 a0001c0007t0001g0122 others(7): Show |
10 | 61 | 0.1639 | -9 | c.502 others(26): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 11018191 | ATGGTGGT others(2): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG02886.hp2 HG03041.hp1 others(4): Show |
a0002a0004a0005others(2): Show | a0002c0001a0004c0022a0005c0046others(2): Show | a0002c0001t0001a0004c0022t0002a0005c0046t0001others(3): Show | a0002c0001t0001g0026 a0004c0022t0002g0088 a0005c0046t0001g0133 others(4): Show |
7 | 158 | 0.0443 | -9 | c.161 others(28): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 2/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 11078112 | TATACACA others(2): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp1 HG02109.hp2 others(16): Show |
a0001a0002a0005others(5): Show | a0001c0021a0001c0033a0001c0059others(12): Show | a0001c0021t0002a0001c0033t0002a0001c0059t0003others(15): Show | a0001c0021t0002g0089 a0001c0033t0002g0039 a0001c0059t0003g0111 others(16): Show |
19 | 158 | 0.1203 | -9 | c.65- others(26): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 1/55 | chr18 | TogoVar | |||||||
PIF1_chr15_64810632_64830647 | 64827840 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02109.hp2 others(31): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0004others(4): Show | a0001c0001t0001a0001c0003t0001a0002c0004t0001others(5): Show | a0001c0001t0001g0021 a0001c0001t0001g0063 a0001c0001t0001g0077 others(15): Show |
34 | 43 | 0.7907 | -9 | c.-23 others(20): Show |
PIF1 | ENSG00000140451.13 | transcript | ENST00000559239.2 | protein_coding | 2194 | chr15 | TogoVar | |||||||
PIGBOS1_chr15_55312184_55324123 | 55318263 | AATTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0031 |
6 | 414 | 0.0145 | -9 | c.-75 others(24): Show |
PIGBOS1 | ENSG00000225973.4 | transcript | ENST00000436697.3 | protein_coding | 1/1 | chr15 | TogoVar | |||||||
PIGB_chr15_55314222_55360648 | 55318263 | AATTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02965.hp2 others(3): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0001a0004c0006t0001 | a0002c0002t0001g0076 a0004c0006t0001g0010 a0004c0006t0001g0075 others(1): Show |
6 | 374 | 0.0160 | -9 | c.-98 others(18): Show |
PIGB | ENSG00000069943.10 | transcript | ENST00000164305.10 | protein_coding | 958 | chr15 | TogoVar | |||||||
PIGG_chr4_494210_545200 | 541941 | TAATATAT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02738.hp1 HG03017.hp1 HG03540.hp1 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0002a0004c0004t0002others(1): Show | a0001c0001t0001g0165 a0002c0002t0002g0246 a0004c0004t0002g0013 others(9): Show |
13 | 360 | 0.0361 | -9 | c.*25 others(20): Show |
PIGG | ENSG00000174227.16 | transcript | ENST00000453061.7 | protein_coding | 1742 | chr4 | TogoVar | |||||||
PIGK_chr1_77083989_77224430 | 77088419 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp2 others(95): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0008a0001c0001t0019others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(86): Show |
98 | 216 | 0.4537 | -9 | c.*39 others(20): Show |
PIGK | ENSG00000142892.15 | transcript | ENST00000370812.8 | protein_coding | 569 | chr1 | TogoVar | |||||||
PIGL_chr17_16212210_16331411 | 16264599 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02155.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0108 a0001c0001t0001g0158 a0001c0001t0001g0162 others(11): Show |
14 | 37 | 0.3784 | -9 | c.335 others(28): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PIGN_chr18_62036164_62192056 | 62038919 | AAATAATA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00673.hp1 HG01109.hp1 others(18): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0003t0002a0001c0005t0004others(6): Show | a0001c0001t0001g0246 a0001c0001t0001g0278 a0001c0003t0002g0036 others(18): Show |
21 | 53 | 0.3962 | -9 | c.*69 others(20): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 2244 | chr18 | TogoVar | |||||||
PIGN_chr18_62036164_62192056 | 62062882 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02165.hp2 NA18944.hp2 NA18946.hp1 others(9): Show |
a0001a0008 | a0001c0008a0001c0020a0008c0012 | a0001c0008t0006a0001c0020t0023a0008c0012t0006 | a0001c0008t0006g0285 a0001c0008t0006g0286 a0001c0008t0006g0288 others(9): Show |
12 | 53 | 0.2264 | -9 | c.267 others(28): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 30/30 | chr18 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 571281 | CTGGCGCC others(2): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01981.hp1 others(6): Show |
a0001a0002a0009 | a0001c0004a0002c0001a0009c0023 | a0001c0004t0004a0001c0004t0006a0001c0004t0014others(2): Show | a0001c0004t0004g0319 a0001c0004t0004g0321 a0001c0004t0004g0322 others(6): Show |
9 | 405 | 0.0222 | -9 | c.-10 others(26): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PIGZ_chr3_196941356_196973833 | 196949019 | CCCTTCCC others(2): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02615.hp1 HG02895.hp2 |
a0004a0006 | a0004c0009a0006c0031 | a0004c0009t0001a0006c0031t0001 | a0004c0009t0001g0235 a0004c0009t0001g0236 a0006c0031t0001g0237 |
3 | 419 | 0.0072 | -9 | c.212 others(24): Show |
PIGZ | ENSG00000119227.8 | transcript | ENST00000412723.6 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
PIGZ_chr3_196941356_196973833 | 196955559 | TTTTCTTT others(2): Show |
T | intron_variant | MODIFIER | HG01981.hp1 NA18990.hp2 NA18991.hp2 others(5): Show |
a0001a0002a0010 | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(4): Show | a0001c0001t0001g0193 a0001c0004t0001g0153 a0001c0006t0001g0152 others(5): Show |
8 | 422 | 0.0190 | -9 | c.1-3 others(22): Show |
PIGZ | ENSG00000119227.8 | transcript | ENST00000412723.6 | protein_coding | 1/2 | chr3 | TogoVar |