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 | 143771208 | A | ATATGTAT others(21): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0038 | 1 | 310 | 0.0032 | 28 | c.123 others(47): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59622981 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01433.hp2 HG04228.hp1 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0170a0001c0001t0001g0203a0001c0001t0004g0016 | 3 | 250 | 0.0120 | 28 | c.118 others(47): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59635149 | T | TTCTTTTT others(21): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 250 | 0.0040 | 28 | c.118 others(47): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHC2_chr1_33318626_33436095 | 33356249 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0052 | 1 | 370 | 0.0027 | 28 | c.977 others(43): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 7/14 | chr1 | TogoVar | ||||||
PHC2_chr1_33318626_33436095 | 33356270 | T | TGTATATA others(21): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0031 | 1 | 370 | 0.0027 | 28 | c.977 others(45): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 7/14 | chr1 | TogoVar | ||||||
PHC2_chr1_33318626_33436095 | 33356273 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG01074.hp1 others(11): Show |
a0002a0005 | a0002c0004a0005c0015 | a0002c0004t0004a0005c0015t0004 | a0002c0004t0004g0014a0002c0004t0004g0032a0002c0004t0004g0040others(11): Show | 14 | 370 | 0.0378 | 28 | c.977 others(45): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 7/14 | chr1 | TogoVar | ||||||
PHC3_chr3_170082584_170186733 | 170111394 | G | GAGGAAGG others(21): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00673.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0024 | a0001c0002t0005g0305a0001c0002t0005g0307a0001c0002t0005g0308others(7): Show | 10 | 332 | 0.0301 | 28 | c.235 others(47): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 11/14 | chr3 | TogoVar | ||||||
PHC3_chr3_170082584_170186733 | 170126504 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0109a0001c0001t0014g0110 | 2 | 332 | 0.0060 | 28 | c.178 others(47): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 8/14 | chr3 | TogoVar | ||||||
PHC3_chr3_170082584_170186733 | 170126528 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0111 | 1 | 332 | 0.0030 | 28 | c.178 others(47): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 8/14 | chr3 | TogoVar | ||||||
PHETA1_chr12_111355679_111374095 | 111358247 | C | CTTTTTTT others(21): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013 | 2 | 380 | 0.0053 | 28 | c.*44 others(39): Show |
PHETA1 | ENSG00000198324.14 | transcript | ENST00000683047.1 | protein_coding | 2431 | chr12 | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22041265 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0127 | a0001c0001t0127g0047 | 1 | 231 | 0.0043 | 28 | c.187 others(45): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22249453 | A | AATATATA others(21): Show |
3_prime_UTR_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0104 | a0001c0001t0104g0074 | 1 | 231 | 0.0043 | 28 | c.*15 others(39): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1502 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
PHEX_chrX_22027325_22256310 | 22249455 | A | AAAATATA others(21): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0114 | a0001c0001t0114g0007 | 1 | 231 | 0.0043 | 28 | c.*15 others(39): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1504 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
PHF12_chr17_28900250_28956518 | 28903702 | C | CCTTCCTT others(21): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG03471.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0068a0001c0001t0001g0069 | 3 | 232 | 0.0129 | 28 | c.*24 others(39): Show |
PHF12 | ENSG00000109118.14 | transcript | ENST00000332830.9 | protein_coding | 1547 | chr17 | TogoVar | ||||||
PHF12_chr17_28900250_28956518 | 28923653 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077a0001c0001t0001g0173 | 2 | 232 | 0.0086 | 28 | c.715 others(43): Show |
PHF12 | ENSG00000109118.14 | transcript | ENST00000332830.9 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
PHF14_chr7_10968872_11174618 | 11122352 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18975.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042a0001c0002t0001g0046 | 2 | 298 | 0.0067 | 28 | c.277 others(49): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHF14_chr7_10968872_11174618 | 11122352 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01257.hp1 HG03654.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041a0001c0002t0001g0043a0001c0002t0001g0052 | 3 | 298 | 0.0101 | 28 | c.277 others(49): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHF14_chr7_10968872_11174618 | 11122352 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080a0001c0002t0001g0081 | 2 | 298 | 0.0067 | 28 | c.277 others(49): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHF14_chr7_10968872_11174618 | 11122352 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02486.hp2 HG04199.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0293a0001c0002t0001g0064 | 2 | 298 | 0.0067 | 28 | c.277 others(49): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHF20_chr20_35767015_35955370 | 35904767 | C | CTCCTTCC others(21): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01243.hp1 HG01243.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0003t0005others(1): Show | a0001c0001t0001g0019a0001c0001t0001g0029a0001c0001t0005g0023others(7): Show | 10 | 206 | 0.0485 | 28 | c.156 others(47): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHF20_chr20_35767015_35955370 | 35904793 | C | CCTTCCTT others(21): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 206 | 0.0049 | 28 | c.156 others(47): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHF21A_chr11_45924319_46126454 | 45971890 | C | CTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01258.hp1 HG01346.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(8): Show | a0001c0001t0002g0021a0001c0001t0002g0079a0001c0001t0003g0113others(23): Show | 26 | 280 | 0.0929 | 28 | c.361 others(43): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 7/18 | chr11 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 45986084 | A | AACACACA others(21): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01515.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0021others(1): Show | a0001c0001t0001g0218a0001c0001t0001g0234a0001c0001t0001g0236others(4): Show | 7 | 280 | 0.0250 | 28 | c.154 others(45): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 6/18 | chr11 | TogoVar | ||||||
PHF23_chr17_7230038_7244457 | 7233087 | C | CAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 394 | 0.0025 | 28 | c.*25 others(39): Show |
PHF23 | ENSG00000040633.13 | transcript | ENST00000320316.8 | protein_coding | 1950 | chr17 | TogoVar | ||||||
PHKB_chr16_47456331_47706523 | 47590653 | A | ACTTTGGA others(21): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093a0001c0001t0002g0094 | 2 | 98 | 0.0204 | 28 | c.106 others(47): Show |
PHKB | ENSG00000102893.18 | transcript | ENST00000323584.10 | protein_coding | 10/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PHLDB2_chr3_111854265_111981517 | 111866014 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02040.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0191a0001c0001t0018g0190 | 2 | 286 | 0.0070 | 28 | c.-15 others(45): Show |
PHLDB2 | ENSG00000144824.21 | transcript | ENST00000431670.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PHLDB2_chr3_111854265_111981517 | 111955144 | G | GATATATA others(21): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0160 | 1 | 286 | 0.0035 | 28 | c.287 others(47): Show |
PHLDB2 | ENSG00000144824.21 | transcript | ENST00000431670.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PHLDB3_chr19_43470103_43509746 | 43487591 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01358.hp1 NA18956.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026a0001c0001t0002g0050a0001c0001t0002g0055 | 3 | 396 | 0.0076 | 28 | c.115 others(45): Show |
PHLDB3 | ENSG00000176531.11 | transcript | ENST00000292140.10 | protein_coding | 9/15 | chr19 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAAAAATA others(21): Show |
intron_variant | MODIFIER | NA19083.hp1 NA19083.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0022a0001c0002t0001g0127 | 2 | 192 | 0.0104 | 28 | c.157 others(49): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAAATATA others(21): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 192 | 0.0052 | 28 | c.157 others(49): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0180a0001c0002t0001g0181 | 2 | 192 | 0.0104 | 28 | c.157 others(49): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62766102 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 192 | 0.0052 | 28 | c.157 others(49): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62849824 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 192 | 0.0052 | 28 | c.190 others(49): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62849826 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG03710.hp2 NA19065.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0041 | 3 | 192 | 0.0156 | 28 | c.190 others(49): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62849828 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 192 | 0.0052 | 28 | c.190 others(49): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62849830 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0021 | 1 | 192 | 0.0052 | 28 | c.190 others(49): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP2_chr16_71639924_71729701 | 71670695 | A | AACACACA others(21): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03195.hp1 HG03486.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0045others(6): Show | 9 | 324 | 0.0278 | 28 | c.153 others(47): Show |
PHLPP2 | ENSG00000040199.18 | transcript | ENST00000568954.5 | protein_coding | 10/18 | chr16 | TogoVar | ||||||
PHLPP2_chr16_71639924_71729701 | 71719964 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0281a0001c0001t0004g0282a0001c0001t0004g0283 | 3 | 324 | 0.0093 | 28 | c.-7+ others(43): Show |
PHLPP2 | ENSG00000040199.18 | transcript | ENST00000568954.5 | protein_coding | 1/18 | chr16 | TogoVar | ||||||
PHTF2_chr7_77793773_77962225 | 77911173 | T | TACTATAC others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01256.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0144a0001c0003t0004g0002a0001c0003t0004g0003others(3): Show | 6 | 314 | 0.0191 | 28 | c.674 others(43): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHYHIPL_chr10_59171643_59252770 | 59227975 | G | GAGATATA others(21): Show |
intron_variant | MODIFIER | HG04228.hp1 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035a0001c0001t0002g0045 | 2 | 202 | 0.0099 | 28 | c.107 others(45): Show |
PHYHIPL | ENSG00000165443.12 | transcript | ENST00000373880.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PHYHIPL_chr10_59171643_59252770 | 59227975 | G | GATATATA others(21): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02615.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0078a0001c0001t0001g0079 | 3 | 202 | 0.0149 | 28 | c.107 others(45): Show |
PHYHIPL | ENSG00000165443.12 | transcript | ENST00000373880.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PHYH_chr10_13272799_13305064 | 13304524 | T | TTAAATAA others(21): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00741.hp2 NA18956.hp1 others(6): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0213a0001c0001t0001g0370a0001c0001t0002g0302others(6): Show | 9 | 438 | 0.0206 | 28 | c.-44 others(39): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 4461 | chr10 | TogoVar | ||||||
PHYKPL_chr5_178203471_178237802 | 178203504 | T | TAAAAAAA others(21): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 NA18960.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014a0001c0001t0001g0229a0001c0001t0002g0294 | 3 | 440 | 0.0068 | 28 | c.*54 others(39): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 4966 | chr5 | TogoVar | ||||||
PHYKPL_chr5_178203471_178237802 | 178232828 | T | TCGCCCCG others(21): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG02559.hp2 HG02922.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0003 | a0001c0001t0003g0010a0001c0001t0003g0255a0001c0001t0003g0269others(1): Show | 4 | 440 | 0.0091 | 28 | c.-27 others(37): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 27 | chr5 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97642850 | C | CCTTCCTT others(21): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 350 | 0.0029 | 28 | c.435 others(45): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PI4K2A_chr10_97635671_97681434 | 97642884 | T | TCTTTCTT others(21): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0116 | 1 | 350 | 0.0029 | 28 | c.435 others(45): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PI4K2A_chr10_97635671_97681434 | 97642887 | T | TTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03195.hp1 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0325a0001c0002t0008g0326 | 2 | 350 | 0.0057 | 28 | c.435 others(45): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678880 | G | GGTGTGTG others(21): Show |
downstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 350 | 0.0029 | 28 | c.*51 others(39): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2447 | chr10 | TogoVar | ||||||
PIAS1_chr15_68049315_68198847 | 68050448 | T | TATATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00621.hp2 others(53): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0071a0001c0001t0001g0182others(53): Show | 56 | 260 | 0.2154 | 28 | c.-38 others(39): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 3866 | chr15 | TogoVar | ||||||
PIAS1_chr15_68049315_68198847 | 68050448 | T | TGTATATA others(21): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0164 | 1 | 260 | 0.0039 | 28 | c.-38 others(39): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 3866 | chr15 | TogoVar |