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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHB1_chr17_49399052_49419882 | 49405765 | CACAAACA others(5): Show |
C | intron_variant | MODIFIER | HG00673.hp2 NA18967.hp2 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0088a0001c0001t0003g0036 | 3 | 442 | 0.0068 | -12 | c.607 others(27): Show |
PHB1 | ENSG00000167085.14 | transcript | ENST00000300408.8 | protein_coding | 6/6 | chr17 | TogoVar | ||||||
PHB1_chr17_49399052_49419882 | 49409532 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0104 | 1 | 442 | 0.0023 | -12 | c.251 others(25): Show |
PHB1 | ENSG00000167085.14 | transcript | ENST00000300408.8 | protein_coding | 3/6 | chr17 | TogoVar | ||||||
PHC1_chr12_8909509_8946467 | 8927853 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01261.hp1 HG03139.hp1 others(3): Show |
a0001a0002a0005 | a0001c0002a0001c0021a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0021t0001others(2): Show | a0001c0002t0001g0079a0001c0002t0003g0224a0001c0002t0003g0227others(3): Show | 6 | 368 | 0.0163 | -12 | c.613 others(29): Show |
PHC1 | ENSG00000111752.11 | transcript | ENST00000544916.6 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PHC1_chr12_8909509_8946467 | 8944960 | CCATCATG others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00642.hp1 others(72): Show |
a0001a0003a0006others(1): Show | a0001c0004a0001c0005a0001c0010others(6): Show | a0001c0004t0001a0001c0004t0009a0001c0004t0017others(10): Show | a0001c0004t0001g0008a0001c0004t0001g0017a0001c0004t0001g0027others(54): Show | 75 | 368 | 0.2038 | -12 | c.*55 others(23): Show |
PHC1 | ENSG00000111752.11 | transcript | ENST00000544916.6 | protein_coding | 3494 | chr12 | TogoVar | ||||||
PHC2_chr1_33318626_33436095 | 33354579 | AGGACAGA others(5): Show |
A | intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0232 | 1 | 370 | 0.0027 | -12 | c.139 others(27): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 8/14 | chr1 | TogoVar | ||||||
PHC2_chr1_33318626_33436095 | 33364390 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0232 | 1 | 370 | 0.0027 | -12 | c.976 others(29): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 7/14 | chr1 | TogoVar | ||||||
PHC2_chr1_33318626_33436095 | 33372564 | TGTGACCA others(5): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG00642.hp1 others(34): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0010a0001c0001t0015others(4): Show | a0001c0001t0002g0285a0001c0001t0010g0010a0001c0001t0010g0344others(33): Show | 37 | 370 | 0.1000 | -12 | c.175 others(27): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 2/14 | chr1 | TogoVar | ||||||
PHC2_chr1_33318626_33436095 | 33414177 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0106 | 1 | 370 | 0.0027 | -12 | c.-55 others(31): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 1/14 | chr1 | TogoVar | ||||||
PHC3_chr3_170082584_170186733 | 170111261 | AGAAGGAA others(5): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00639.hp2 others(30): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0031a0001c0001t0001g0079a0001c0001t0002g0181others(30): Show | 33 | 332 | 0.0994 | -12 | c.235 others(31): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 11/14 | chr3 | TogoVar | ||||||
PHC3_chr3_170082584_170186733 | 170111309 | GGAAGGAA others(5): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0212 | 1 | 332 | 0.0030 | -12 | c.235 others(31): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 11/14 | chr3 | TogoVar | ||||||
PHC3_chr3_170082584_170186733 | 170159251 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0045a0001c0001t0054 | a0001c0001t0012g0100a0001c0001t0012g0102a0001c0001t0012g0103others(3): Show | 6 | 332 | 0.0181 | -12 | c.415 others(31): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 4/14 | chr3 | TogoVar | ||||||
PHC3_chr3_170082584_170186733 | 170163461 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0030 | 1 | 332 | 0.0030 | -12 | c.414 others(29): Show |
PHC3 | ENSG00000173889.16 | transcript | ENST00000495893.7 | protein_coding | 4/14 | chr3 | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22041265 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp1 HG01168.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0140a0001c0001t0001g0158a0001c0001t0001g0162others(44): Show | 47 | 231 | 0.2035 | -12 | c.187 others(29): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22044715 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0229 | 1 | 231 | 0.0043 | -12 | c.188 others(29): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22055174 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00609.hp1 others(127): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(96): Show | a0001c0001t0001g0140a0001c0001t0001g0158a0001c0001t0001g0162others(127): Show | 130 | 231 | 0.5628 | -12 | c.349 others(29): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22056763 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0064a0001c0001t0153 | a0001c0001t0021g0013a0001c0001t0021g0014a0001c0001t0064g0130others(1): Show | 4 | 231 | 0.0173 | -12 | c.349 others(29): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22098795 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0092 | a0001c0001t0092g0112 | 1 | 231 | 0.0043 | -12 | c.934 others(27): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22113005 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0127 | a0001c0001t0127g0047 | 1 | 231 | 0.0043 | -12 | c.117 others(31): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22176398 | AAAAAATA others(5): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0049a0001c0001t0134 | a0001c0001t0049g0148a0001c0001t0134g0122 | 2 | 231 | 0.0087 | -12 | c.148 others(31): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22176400 | AAAATATA others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02976.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0046a0001c0001t0100a0001c0001t0118 | a0001c0001t0046g0164a0001c0001t0100g0002a0001c0001t0118g0029 | 3 | 231 | 0.0130 | -12 | c.148 others(31): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22216492 | CTTATTTA others(5): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01981.hp2 HG02293.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0109a0001c0001t0141others(3): Show | a0001c0001t0001g0208a0001c0001t0109g0054a0001c0001t0141g0031others(3): Show | 6 | 231 | 0.0260 | -12 | c.170 others(31): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22230229 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0007 | a0001c0007t0024 | a0001c0007t0024g0082 | 1 | 231 | 0.0043 | -12 | c.207 others(31): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHEX_chrX_22027325_22256310 | 22249453 | AAAATATA others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19030.hp1 | a0004 | a0004c0006 | a0004c0006t0140 | a0004c0006t0140g0123 | 1 | 231 | 0.0043 | -12 | c.*15 others(23): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1502 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
PHEX_chrX_22027325_22256310 | 22249455 | AATATATA others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01081.hp2 HG02622.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0082a0001c0002t0081 | a0001c0001t0082g0005a0001c0002t0081g0114 | 2 | 231 | 0.0087 | -12 | c.*15 others(23): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1523 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
PHF10_chr6_169698902_169729500 | 169706723 | TACATACA others(5): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG03041.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0073a0001c0001t0002g0186a0001c0001t0002g0187 | 3 | 394 | 0.0076 | -12 | c.111 others(31): Show |
PHF10 | ENSG00000130024.15 | transcript | ENST00000339209.9 | protein_coding | 9/11 | chr6 | TogoVar | ||||||
PHF10_chr6_169698902_169729500 | 169706727 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG01069.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0037a0001c0001t0001g0040a0001c0001t0001g0065others(20): Show | 30 | 394 | 0.0761 | -12 | c.111 others(31): Show |
PHF10 | ENSG00000130024.15 | transcript | ENST00000339209.9 | protein_coding | 9/11 | chr6 | TogoVar | ||||||
PHF12_chr17_28900250_28956518 | 28903671 | TTTCCTTC others(5): Show |
T | downstream_gene_variant | MODIFIER | NA18906.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0166 | 2 | 232 | 0.0086 | -12 | c.*25 others(23): Show |
PHF12 | ENSG00000109118.14 | transcript | ENST00000332830.9 | protein_coding | 1578 | chr17 | TogoVar | ||||||
PHF12_chr17_28900250_28956518 | 28903718 | CCCTTCCT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG06807.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109a0001c0001t0001g0111a0001c0001t0001g0186 | 3 | 232 | 0.0129 | -12 | c.*24 others(23): Show |
PHF12 | ENSG00000109118.14 | transcript | ENST00000332830.9 | protein_coding | 1531 | chr17 | TogoVar | ||||||
PHF14_chr7_10968872_11174618 | 11004246 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0109 | 1 | 298 | 0.0034 | -12 | c.104 others(31): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHF14_chr7_10968872_11174618 | 11122342 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01123.hp1 HG01167.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0024a0001c0001t0001g0202a0001c0001t0001g0204others(8): Show | 11 | 298 | 0.0369 | -12 | c.277 others(33): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHF14_chr7_10968872_11174618 | 11122350 | TATACACA others(5): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02723.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0016others(3): Show | 6 | 298 | 0.0201 | -12 | c.277 others(33): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHF14_chr7_10968872_11174618 | 11122352 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02074.hp2 HG02622.hp2 HG02976.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(17): Show | 21 | 298 | 0.0705 | -12 | c.277 others(33): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHF14_chr7_10968872_11174618 | 11137590 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02109.hp2 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0009t0007 | a0001c0002t0001g0027a0001c0009t0007g0200 | 2 | 298 | 0.0067 | -12 | c.277 others(33): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHF14_chr7_10968872_11174618 | 11162072 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 | 1 | 298 | 0.0034 | -12 | c.277 others(31): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHF1_chr6_33406014_33421439 | 33409705 | CTGTGTGT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01175.hp1 HG01192.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 8 | 363 | 0.0220 | -12 | c.-15 others(23): Show |
PHF1 | ENSG00000112511.18 | transcript | ENST00000374516.8 | protein_coding | 1308 | chr6 | TogoVar | ||||||
PHF20L1_chr8_132770388_132853807 | 132775406 | AGGCGGCG others(5): Show |
A | 5_prime_UTR_variant | MODIFIER | NA18612.hp2 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0158a0001c0001t0011g0159 | 2 | 392 | 0.0051 | -12 | c.-26 others(21): Show |
PHF20L1 | ENSG00000129292.21 | transcript | ENST00000395386.7 | protein_coding | 1/21 | 2404 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
PHF20L1_chr8_132770388_132853807 | 132821217 | ATTACATA others(5): Show |
A | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0116 | 1 | 392 | 0.0026 | -12 | c.158 others(31): Show |
PHF20L1 | ENSG00000129292.21 | transcript | ENST00000395386.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PHF20_chr20_35767015_35955370 | 35787158 | ATTATTTA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01081.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0019 | a0001c0001t0004g0098a0001c0001t0004g0099a0001c0001t0004g0100others(11): Show | 14 | 206 | 0.0680 | -12 | c.-32 others(31): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHF20_chr20_35767015_35955370 | 35791441 | GTATCTAT others(5): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG01071.hp2 HG01081.hp1 others(33): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0040others(33): Show | 36 | 206 | 0.1748 | -12 | c.-32 others(30): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHF20_chr20_35767015_35955370 | 35792348 | CGGCTAAT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01081.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0019 | a0001c0001t0004g0098a0001c0001t0004g0099a0001c0001t0004g0100others(11): Show | 14 | 206 | 0.0680 | -12 | c.-32 others(29): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHF20_chr20_35767015_35955370 | 35819648 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 206 | 0.0049 | -12 | c.83+ others(29): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHF20_chr20_35767015_35955370 | 35864407 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 206 | 0.0049 | -12 | c.808 others(29): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHF20_chr20_35767015_35955370 | 35865497 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00642.hp2 others(32): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0008a0002c0002t0016others(1): Show | a0002c0002t0003g0097a0002c0002t0003g0114a0002c0002t0003g0115others(32): Show | 35 | 206 | 0.1699 | -12 | c.808 others(29): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHF20_chr20_35767015_35955370 | 35870303 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00642.hp2 others(34): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0008others(2): Show | a0002c0002t0002g0096a0002c0002t0003g0097a0002c0002t0003g0114others(34): Show | 37 | 206 | 0.1796 | -12 | c.923 others(27): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHF21A_chr11_45924319_46126454 | 45990250 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0008 | 1 | 280 | 0.0036 | -12 | c.154 others(31): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 6/18 | chr11 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 46015895 | CATCTATC others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02165.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002a0002c0002t0013others(1): Show | a0001c0001t0002g0072a0001c0001t0002g0073a0001c0001t0002g0074others(6): Show | 9 | 280 | 0.0321 | -12 | c.154 others(31): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 6/18 | chr11 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 46030820 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG02886.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073a0001c0001t0002g0074 | 2 | 280 | 0.0071 | -12 | c.153 others(31): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 6/18 | chr11 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 46030830 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00642.hp1 others(63): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(17): Show | a0001c0001t0002g0072a0001c0001t0002g0075a0001c0001t0002g0076others(63): Show | 66 | 280 | 0.2357 | -12 | c.153 others(31): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 6/18 | chr11 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 46030859 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0025 | 1 | 280 | 0.0036 | -12 | c.153 others(31): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 6/18 | chr11 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 44884123 | CATGATCA others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(50): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0003c0008others(1): Show | a0001c0001t0002a0001c0001t0022a0001c0001t0034others(4): Show | a0001c0001t0002g0036a0001c0001t0002g0037a0001c0001t0002g0046others(50): Show | 53 | 300 | 0.1767 | -12 | c.137 others(29): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 12/12 | chr22 | TogoVar |