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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHACTR2_chr6_143672965_143836185 | 143827178 | A | ATATATAT others(18): Show |
3_prime_UTR_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0052 | 1 | 310 | 0.0032 | 25 | c.*35 others(36): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 13/13 | 3509 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
PHACTR3_chr20_59599540_59852711 | 59622981 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00741.hp2 HG01175.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0150a0001c0001t0001g0164a0001c0001t0001g0177others(9): Show | 12 | 250 | 0.0480 | 25 | c.118 others(44): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59668870 | T | TTTTTATT others(18): Show |
intron_variant | MODIFIER | NA18962.hp2 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0058a0001c0001t0003g0136 | 2 | 250 | 0.0080 | 25 | c.118 others(44): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22224947 | A | AATTATCA others(18): Show |
intron_variant | MODIFIER | HG00609.hp1 HG03654.hp1 HG04184.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(1): Show | a0001c0001t0001g0230a0001c0001t0012g0081a0001c0001t0014g0210others(1): Show | 4 | 231 | 0.0173 | 25 | c.190 others(44): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22224947 | A | AATTATCA others(18): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0046a0001c0001t0047a0001c0001t0051others(6): Show | a0001c0001t0046g0164a0001c0001t0047g0170a0001c0001t0051g0171others(6): Show | 9 | 231 | 0.0390 | 25 | c.190 others(44): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22249451 | A | ATATATAT others(18): Show |
3_prime_UTR_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0145 | a0001c0004t0145g0010 | 1 | 231 | 0.0043 | 25 | c.*14 others(36): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1499 | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22249455 | A | AAATATAT others(18): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0127 | a0001c0001t0127g0047 | 1 | 231 | 0.0043 | 25 | c.*15 others(36): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1504 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
PHF12_chr17_28900250_28956518 | 28923651 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 232 | 0.0043 | 25 | c.715 others(40): Show |
PHF12 | ENSG00000109118.14 | transcript | ENST00000332830.9 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 45958419 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0004 | 1 | 280 | 0.0036 | 25 | c.997 others(42): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 10/18 | chr11 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 45958419 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0130 | 1 | 280 | 0.0036 | 25 | c.997 others(42): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 10/18 | chr11 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 45971890 | C | CTTTCTTT others(18): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01943.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0215a0001c0001t0002g0057a0001c0001t0002g0064others(26): Show | 29 | 280 | 0.1036 | 25 | c.361 others(40): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 7/18 | chr11 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 45975377 | T | TAAAATAA others(18): Show |
intron_variant | MODIFIER | HG02647.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0064 | a0001c0001t0023g0248a0001c0001t0064g0247 | 2 | 280 | 0.0071 | 25 | c.361 others(42): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 7/18 | chr11 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 45975377 | T | TAAAATAA others(18): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0096 | 1 | 280 | 0.0036 | 25 | c.361 others(42): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 7/18 | chr11 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 46099563 | C | CACACACA others(18): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 280 | 0.0036 | 25 | c.-23 others(44): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 1/18 | chr11 | TogoVar | ||||||
PHF23_chr17_7230038_7244457 | 7233087 | C | CAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | NA18943.hp2 NA18992.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0040 | 3 | 394 | 0.0076 | 25 | c.*25 others(36): Show |
PHF23 | ENSG00000040633.13 | transcript | ENST00000320316.8 | protein_coding | 1950 | chr17 | TogoVar | ||||||
PHF3_chr6_63630802_63731011 | 63727737 | A | AAATATAT others(18): Show |
downstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0041 | 1 | 320 | 0.0031 | 25 | c.*14 others(38): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 1727 | chr6 | TogoVar | ||||||
PHLDB2_chr3_111854265_111981517 | 111866014 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01943.hp2 HG01952.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0016others(2): Show | a0001c0001t0001g0185a0001c0001t0001g0228a0001c0001t0004g0183others(6): Show | 9 | 286 | 0.0315 | 25 | c.-15 others(42): Show |
PHLDB2 | ENSG00000144824.21 | transcript | ENST00000431670.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PHLDB3_chr19_43470103_43509746 | 43487591 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01168.hp1 HG01169.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0002t0002 | a0001c0001t0002g0016a0001c0001t0002g0017a0001c0001t0002g0019others(14): Show | 17 | 396 | 0.0429 | 25 | c.115 others(42): Show |
PHLDB3 | ENSG00000176531.11 | transcript | ENST00000292140.10 | protein_coding | 9/15 | chr19 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62766074 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 192 | 0.0052 | 25 | c.157 others(46): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAAAAAAT others(18): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 192 | 0.0052 | 25 | c.157 others(46): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAAAATAT others(18): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0005 | 1 | 192 | 0.0052 | 25 | c.157 others(46): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAATATAT others(18): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18984.hp1 NA19066.hp1 |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0002t0001a0001c0010t0001 | a0001c0001t0001g0040a0001c0002t0001g0122a0001c0010t0001g0191 | 3 | 192 | 0.0156 | 25 | c.157 others(46): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02970.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0005a0001c0013t0001 | a0001c0001t0001g0044a0001c0001t0005g0080a0001c0013t0001g0136 | 3 | 192 | 0.0156 | 25 | c.157 others(46): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62849830 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02717.hp2 NA19075.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051a0001c0001t0001g0183 | 2 | 192 | 0.0104 | 25 | c.190 others(46): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62849832 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 192 | 0.0052 | 25 | c.190 others(46): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | chr18 | TogoVar | ||||||
PHLPP2_chr16_71639924_71729701 | 71670695 | A | ACACACAC others(18): Show |
intron_variant | MODIFIER | HG03688.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0026a0001c0001t0014g0066 | 2 | 324 | 0.0062 | 25 | c.153 others(44): Show |
PHLPP2 | ENSG00000040199.18 | transcript | ENST00000568954.5 | protein_coding | 10/18 | chr16 | TogoVar | ||||||
PHLPP2_chr16_71639924_71729701 | 71719964 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0284 | 1 | 324 | 0.0031 | 25 | c.-7+ others(40): Show |
PHLPP2 | ENSG00000040199.18 | transcript | ENST00000568954.5 | protein_coding | 1/18 | chr16 | TogoVar | ||||||
PHOSPHO1_chr17_49218366_49235787 | 49232385 | C | CAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0102a0001c0001t0003g0044 | 2 | 420 | 0.0048 | 25 | c.-19 others(36): Show |
PHOSPHO1 | ENSG00000173868.12 | transcript | ENST00000310544.9 | protein_coding | 1599 | chr17 | TogoVar | ||||||
PHYHD1_chr9_128915982_128947038 | 128918312 | G | GTTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | NA18982.hp2 NA19000.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0190a0001c0002t0001g0252 | 2 | 404 | 0.0050 | 25 | c.-35 others(36): Show |
PHYHD1 | ENSG00000175287.19 | transcript | ENST00000372592.8 | protein_coding | 2669 | chr9 | TogoVar | ||||||
PHYHD1_chr9_128915982_128947038 | 128918313 | G | GTTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 404 | 0.0025 | 25 | c.-35 others(36): Show |
PHYHD1 | ENSG00000175287.19 | transcript | ENST00000372592.8 | protein_coding | 2668 | chr9 | TogoVar | ||||||
PHYHD1_chr9_128915982_128947038 | 128918313 | G | GTTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 404 | 0.0025 | 25 | c.-35 others(36): Show |
PHYHD1 | ENSG00000175287.19 | transcript | ENST00000372592.8 | protein_coding | 2668 | chr9 | TogoVar | ||||||
PHYKPL_chr5_178203471_178237802 | 178203504 | T | TAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0144 | 2 | 440 | 0.0046 | 25 | c.*54 others(36): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 4966 | chr5 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97642924 | C | CCTTCCTT others(18): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0086 | 1 | 350 | 0.0029 | 25 | c.435 others(42): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PI4K2A_chr10_97635671_97681434 | 97679000 | T | TGTGTGTG others(18): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 350 | 0.0029 | 25 | c.*52 others(36): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2567 | chr10 | TogoVar | ||||||
PI4KA_chr22_20702691_20863811 | 20780775 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01433.hp2 HG02071.hp1 others(6): Show |
a0001 | a0001c0003a0001c0013 | a0001c0003t0003a0001c0013t0001 | a0001c0003t0003g0306a0001c0003t0003g0308a0001c0003t0003g0311others(6): Show | 9 | 334 | 0.0270 | 25 | c.232 others(46): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 19/54 | chr22 | TogoVar | ||||||
PI4KA_chr22_20702691_20863811 | 20847141 | C | CCATCTCA others(18): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0186a0001c0001t0009g0187 | 2 | 334 | 0.0060 | 25 | c.157 others(42): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 1/54 | chr22 | TogoVar | ||||||
PIAS1_chr15_68049315_68198847 | 68179564 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0061 | 1 | 260 | 0.0039 | 25 | c.148 others(44): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PIAS2_chr18_46798218_46922507 | 46807355 | T | TATATATA others(18): Show |
3_prime_UTR_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0140 | a0001c0001t0140g0303 | 1 | 322 | 0.0031 | 25 | c.*50 others(36): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5077 | chr18 | TogoVar | |||||
PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(18): Show |
3_prime_UTR_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0112 | 1 | 322 | 0.0031 | 25 | c.*50 others(36): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | |||||
PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(18): Show |
3_prime_UTR_variant | MODIFIER | HG01934.hp1 NA18955.hp2 |
a0001 | a0001c0001 | a0001c0001t0128a0001c0001t0164 | a0001c0001t0128g0273a0001c0001t0164g0318 | 2 | 322 | 0.0062 | 25 | c.*50 others(36): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | |||||
PIBF1_chr13_72777133_73021461 | 72844752 | C | CACACACG others(18): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02647.hp2 HG02818.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0046a0002c0002t0003g0047a0002c0002t0003g0048 | 3 | 346 | 0.0087 | 25 | c.122 others(44): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PIBF1_chr13_72777133_73021461 | 72844758 | C | CACACACG others(18): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01256.hp1 HG01258.hp1 others(4): Show |
a0002a0010 | a0002c0002a0010c0013 | a0002c0002t0002a0002c0002t0003a0010c0013t0003 | a0002c0002t0002g0089a0002c0002t0003g0020a0002c0002t0003g0023others(4): Show | 7 | 346 | 0.0202 | 25 | c.122 others(44): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PIBF1_chr13_72777133_73021461 | 72904433 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01952.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299a0001c0001t0001g0322 | 2 | 346 | 0.0058 | 25 | c.148 others(44): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PID1_chr2_229018973_229276287 | 229134231 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01952.hp1 HG01975.hp1 NA18967.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0076a0001c0001t0001g0143a0001c0001t0003g0117others(1): Show | 4 | 256 | 0.0156 | 25 | c.177 others(44): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10698012 | C | CGGATGCA others(18): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(143): Show |
a0001a0002a0003others(28): Show | a0001c0002a0001c0003a0001c0006others(83): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(96): Show | a0001c0002t0001g0096a0001c0002t0001g0108a0001c0002t0001g0128others(143): Show | 146 | 158 | 0.9241 | 25 | c.669 others(42): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 44/55 | chr18 | TogoVar | ||||||
PIEZO2_chr18_10665247_11154569 | 10844422 | G | GATAAAAT others(18): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG01123.hp2 others(29): Show |
a0001a0002a0003others(13): Show | a0001c0006a0001c0007a0001c0028others(23): Show | a0001c0006t0001a0001c0007t0001a0001c0028t0001others(24): Show | a0001c0006t0001g0138a0001c0007t0001g0100a0001c0007t0001g0113others(29): Show | 32 | 158 | 0.2025 | 25 | c.917 others(44): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 7/55 | chr18 | TogoVar | ||||||
PIF1_chr15_64810632_64830647 | 64814491 | C | CTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0083 | 1 | 348 | 0.0029 | 25 | c.*18 others(36): Show |
PIF1 | ENSG00000140451.13 | transcript | ENST00000559239.2 | protein_coding | 1140 | chr15 | TogoVar | ||||||
PIGL_chr17_16212210_16331411 | 16216786 | C | CAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0088 | 2 | 246 | 0.0081 | 25 | c.-44 others(34): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 423 | chr17 | TogoVar | ||||||
PIGL_chr17_16212210_16331411 | 16311467 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG01070.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0019others(35): Show | 38 | 246 | 0.1545 | 25 | c.427 others(42): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PIGN_chr18_62036164_62192056 | 62062882 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0037 | 1 | 342 | 0.0029 | 25 | c.267 others(44): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 30/30 | chr18 | TogoVar |