| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PHEX_chrX_22027325_22256310 | 22044715 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0101a0001c0001t0117 | a0001c0001t0101g0045a0001c0001t0117g0046 | 2 | 231 | 0.0087 | -8 | c.188 others(25): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PHEX_chrX_22027325_22256310 | 22113005 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0054a0001c0001t0055 | a0001c0001t0021g0013a0001c0001t0021g0014a0001c0001t0054g0168others(1): Show | 4 | 231 | 0.0173 | -8 | c.117 others(27): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PHEX_chrX_22027325_22256310 | 22118339 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG02145.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0094a0001c0001t0095a0001c0001t0119others(6): Show | a0001c0001t0094g0120a0001c0001t0095g0119a0001c0001t0119g0004others(6): Show | 9 | 231 | 0.0390 | -8 | c.130 others(27): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PHEX_chrX_22027325_22256310 | 22216492 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01070.hp1 HG01071.hp1 others(28): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0006a0001c0001t0011a0001c0001t0012others(27): Show | a0001c0001t0006g0111a0001c0001t0011g0127a0001c0001t0012g0081others(28): Show | 31 | 231 | 0.1342 | -8 | c.170 others(27): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PHEX_chrX_22027325_22256310 | 22230229 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp2 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0133a0001c0001t0144a0001c0001t0164 | a0001c0001t0133g0094a0001c0001t0144g0028a0001c0001t0164g0116 | 3 | 231 | 0.0130 | -8 | c.207 others(27): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PHEX_chrX_22027325_22256310 | 22249455 | AATATATA others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0078 | 1 | 231 | 0.0043 | -8 | c.*15 others(19): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 22/22 | 1527 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
| PHF10_chr6_169698902_169729500 | 169706723 | TACATACA others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01884.hp1 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0079a0001c0001t0002g0189a0001c0001t0006g0155 | 3 | 394 | 0.0076 | -8 | c.111 others(27): Show |
PHF10 | ENSG00000130024.15 | transcript | ENST00000339209.9 | protein_coding | 9/11 | chr6 | TogoVar | ||||||
| PHF10_chr6_169698902_169729500 | 169706727 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG01074.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0021a0001c0001t0001g0023others(19): Show | 36 | 394 | 0.0914 | -8 | c.111 others(27): Show |
PHF10 | ENSG00000130024.15 | transcript | ENST00000339209.9 | protein_coding | 9/11 | chr6 | TogoVar | ||||||
| PHF11_chr13_49490953_49533976 | 49515455 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01243.hp2 HG01884.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0227a0001c0001t0001g0245a0001c0001t0001g0246others(17): Show | 22 | 414 | 0.0531 | -8 | c.324 others(25): Show |
PHF11 | ENSG00000136147.18 | transcript | ENST00000378319.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PHF14_chr7_10968872_11174618 | 11029359 | TACACTAT others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02630.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0009 | a0001c0002t0001g0027a0001c0002t0001g0104a0001c0002t0001g0106others(2): Show | 5 | 298 | 0.0168 | -8 | c.145 others(25): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| PHF14_chr7_10968872_11174618 | 11123424 | CTGAAGAT others(1): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG03453.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028a0001c0002t0001g0029a0001c0002t0001g0030others(1): Show | 4 | 298 | 0.0134 | -8 | c.277 others(29): Show |
PHF14 | ENSG00000106443.17 | transcript | ENST00000634607.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| PHF1_chr6_33406014_33421439 | 33409705 | CTGTGTGT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG02071.hp2 HG02615.hp2 others(7): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(2): Show | 10 | 363 | 0.0276 | -8 | c.-15 others(19): Show |
PHF1 | ENSG00000112511.18 | transcript | ENST00000374516.8 | protein_coding | 1308 | chr6 | TogoVar | ||||||
| PHF20_chr20_35767015_35955370 | 35787158 | ATTATTTA others(1): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01515.hp2 HG01517.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156a0001c0001t0002g0157a0001c0001t0002g0158others(17): Show | 20 | 206 | 0.0971 | -8 | c.-32 others(27): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PHF20_chr20_35767015_35955370 | 35791441 | GTATCTAT others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00642.hp2 others(67): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0011others(67): Show | 70 | 206 | 0.3398 | -8 | c.-32 others(25): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PHF20_chr20_35767015_35955370 | 35819648 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00642.hp2 others(33): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0003a0002c0002t0008others(2): Show | a0001c0001t0004g0125a0002c0002t0003g0097a0002c0002t0003g0114others(33): Show | 36 | 206 | 0.1748 | -8 | c.83+ others(25): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PHF20_chr20_35767015_35955370 | 35828011 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01081.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0019 | a0001c0001t0004g0098a0001c0001t0004g0099a0001c0001t0004g0100others(11): Show | 14 | 206 | 0.0680 | -8 | c.84- others(25): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PHF20_chr20_35767015_35955370 | 35844543 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00642.hp2 HG01069.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003a0002c0002t0008others(2): Show | a0001c0001t0001g0206a0002c0002t0003g0114a0002c0002t0003g0115others(23): Show | 26 | 206 | 0.1262 | -8 | c.255 others(25): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PHF20_chr20_35767015_35955370 | 35870303 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01081.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0019 | a0001c0001t0004g0091a0001c0001t0004g0099a0001c0001t0004g0100others(12): Show | 15 | 206 | 0.0728 | -8 | c.923 others(23): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PHF20_chr20_35767015_35955370 | 35889009 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01884.hp1 HG02723.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007 | a0001c0001t0002g0174a0001c0001t0002g0175a0001c0001t0004g0091others(7): Show | 10 | 206 | 0.0485 | -8 | c.128 others(29): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PHF21A_chr11_45924319_46126454 | 45981940 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0023a0001c0001t0050others(1): Show | a0001c0001t0015g0270a0001c0001t0023g0248a0001c0001t0023g0249others(2): Show | 5 | 280 | 0.0179 | -8 | c.154 others(25): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 6/18 | chr11 | TogoVar | ||||||
| PHF21A_chr11_45924319_46126454 | 46015895 | CATCTATC others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG00733.hp1 others(52): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0017others(14): Show | a0001c0001t0002g0057a0001c0001t0008g0019a0001c0001t0008g0058others(52): Show | 55 | 280 | 0.1964 | -8 | c.154 others(27): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 6/18 | chr11 | TogoVar | ||||||
| PHF21A_chr11_45924319_46126454 | 46030830 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG03098.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0118a0001c0001t0004g0098a0001c0001t0004g0099others(2): Show | 5 | 280 | 0.0179 | -8 | c.153 others(27): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 6/18 | chr11 | TogoVar | ||||||
| PHF21A_chr11_45924319_46126454 | 46040890 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02572.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0009a0001c0001t0015others(4): Show | a0001c0001t0003g0107a0001c0001t0003g0128a0001c0001t0009g0086others(7): Show | 10 | 280 | 0.0357 | -8 | c.153 others(27): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 6/18 | chr11 | TogoVar | ||||||
| PHF21B_chr22_44876162_45015005 | 44886392 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02280.hp1 others(11): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0003a0001c0001t0044a0001c0002t0003others(6): Show | a0001c0001t0003g0034a0001c0001t0003g0098a0001c0001t0044g0275others(11): Show | 14 | 300 | 0.0467 | -8 | c.119 others(25): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 10/12 | chr22 | TogoVar | ||||||
| PHF21B_chr22_44876162_45015005 | 44949302 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG01433.hp2 others(28): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0084a0001c0001t0001g0088a0001c0001t0001g0090others(28): Show | 31 | 300 | 0.1033 | -8 | c.121 others(27): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
| PHF21B_chr22_44876162_45015005 | 44961845 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01099.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0040a0001c0001t0001g0238a0001c0001t0001g0241others(23): Show | 26 | 300 | 0.0867 | -8 | c.121 others(27): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
| PHF2_chr9_93571584_93684587 | 93662533 | CGGATGGA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG00735.hp1 others(81): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0016others(11): Show | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0031others(76): Show | 84 | 350 | 0.2400 | -8 | c.169 others(25): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PHF3_chr6_63630802_63731011 | 63641528 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02056.hp1 HG02109.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(2): Show | a0001c0001t0001g0199a0001c0001t0004g0200a0001c0001t0014g0018others(3): Show | 6 | 320 | 0.0188 | -8 | c.-25 others(25): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PHF3_chr6_63630802_63731011 | 63649079 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(56): Show |
a0001a0005a0006 | a0001c0001a0001c0010a0001c0012others(2): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0035others(14): Show | a0001c0001t0002g0005a0001c0001t0002g0010a0001c0001t0002g0011others(53): Show | 59 | 320 | 0.1844 | -8 | c.244 others(25): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PHF3_chr6_63630802_63731011 | 63658708 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01361.hp2 others(7): Show |
a0001a0012a0014 | a0001c0001a0001c0016a0012c0009others(1): Show | a0001c0001t0008a0001c0001t0010a0001c0001t0032others(4): Show | a0001c0001t0008g0252a0001c0001t0008g0256a0001c0001t0008g0257others(7): Show | 10 | 320 | 0.0313 | -8 | c.244 others(27): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PHF5A_chr22_41454717_41473692 | 41470528 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0012others(1): Show | a0001c0001t0003g0136a0001c0001t0006g0045a0001c0001t0012g0137others(2): Show | 6 | 408 | 0.0147 | -8 | c.-18 others(19): Show |
PHF5A | ENSG00000100410.8 | transcript | ENST00000216252.4 | protein_coding | 1837 | chr22 | TogoVar | ||||||
| PHF6_chrX_134368312_134433790 | 134379427 | CTTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 283 | 0.0035 | -8 | c.240 others(25): Show |
PHF6 | ENSG00000156531.18 | transcript | ENST00000370803.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PHF6_chrX_134368312_134433790 | 134391189 | GTCTTGAA others(1): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 283 | 0.0035 | -8 | c.241 others(25): Show |
PHF6 | ENSG00000156531.18 | transcript | ENST00000370803.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PHF6_chrX_134368312_134433790 | 134406062 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01192.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0023a0001c0001t0001g0110a0001c0001t0001g0111others(16): Show | 20 | 283 | 0.0707 | -8 | c.419 others(25): Show |
PHF6 | ENSG00000156531.18 | transcript | ENST00000370803.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PHF7_chr3_52405660_52428641 | 52425527 | CTTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02523.hp2 HG04204.hp2 NA19058.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0012a0001c0003t0002g0039 | 6 | 362 | 0.0166 | -8 | c.*22 others(19): Show |
PHF7 | ENSG00000010318.22 | transcript | ENST00000327906.8 | protein_coding | 1887 | chr3 | TogoVar | ||||||
| PHF8_chrX_53931680_54049473 | 53932151 | CTTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 186 | 0.0054 | -8 | c.*69 others(19): Show |
PHF8 | ENSG00000172943.21 | transcript | ENST00000338154.11 | protein_coding | 4528 | chrX | TogoVar | ||||||
| PHGDH_chr1_119706934_119749215 | 119726179 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG03471.hp1 NA18522.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0191a0001c0001t0001g0297a0001c0001t0001g0298others(1): Show | 4 | 400 | 0.0100 | -8 | c.357 others(23): Show |
PHGDH | ENSG00000092621.13 | transcript | ENST00000641023.2 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PHGR1_chr15_40346033_40361434 | 40353110 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(124): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0022others(14): Show | 127 | 436 | 0.2913 | -8 | c.-26 others(21): Show |
PHGR1 | ENSG00000233041.8 | transcript | ENST00000448599.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| PHIP_chr6_78929419_79083254 | 79059618 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG03225.hp1 NA18991.hp1 NA19060.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0055 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0005t0055g0045 | 3 | 318 | 0.0094 | -8 | c.439 others(23): Show |
PHIP | ENSG00000146247.15 | transcript | ENST00000275034.5 | protein_coding | 6/39 | chr6 | TogoVar | ||||||
| PHIP_chr6_78929419_79083254 | 79065764 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp2 HG02572.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0008a0002c0002t0048others(3): Show | a0002c0002t0003g0193a0002c0002t0003g0195a0002c0002t0008g0192others(4): Show | 7 | 318 | 0.0220 | -8 | c.190 others(25): Show |
PHIP | ENSG00000146247.15 | transcript | ENST00000275034.5 | protein_coding | 4/39 | chr6 | TogoVar | ||||||
| PHKA1_chrX_72573814_72719306 | 72578491 | AAAGAAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 237 | 0.0042 | -8 | c.*25 others(19): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 322 | chrX | TogoVar | ||||||
| PHKA1_chrX_72573814_72719306 | 72615752 | GGGAAGGA others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 237 | 0.0042 | -8 | c.236 others(27): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 21/31 | chrX | TogoVar | ||||||
| PHKA1_chrX_72573814_72719306 | 72659518 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01884.hp2 others(33): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0002c0003t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0034others(32): Show | 36 | 237 | 0.1519 | -8 | c.865 others(25): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 8/31 | chrX | TogoVar | ||||||
| PHKA1_chrX_72573814_72719306 | 72707630 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02723.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0145others(2): Show | 5 | 237 | 0.0211 | -8 | c.238 others(25): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 2/31 | chrX | TogoVar | ||||||
| PHLDA3_chr1_201459278_201474188 | 201467639 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG00741.hp2 HG01167.hp2 others(15): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0003g0020a0001c0001t0004g0062a0001c0001t0006g0132others(10): Show | 18 | 442 | 0.0407 | -8 | c.*62 others(23): Show |
PHLDA3 | ENSG00000174307.7 | transcript | ENST00000367311.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
| PHLDB1_chr11_118602615_118663028 | 118623874 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG03041.hp1 HG03098.hp1 others(10): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0006others(1): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0005others(4): Show | a0001c0001t0001g0081a0001c0001t0001g0126a0001c0003t0003g0182others(10): Show | 13 | 356 | 0.0365 | -8 | c.356 others(25): Show |
PHLDB1 | ENSG00000019144.20 | transcript | ENST00000600882.6 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PHLDB1_chr11_118602615_118663028 | 118648269 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(60): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(11): Show | a0001c0001t0001g0051a0001c0001t0001g0104a0001c0001t0001g0130others(54): Show | 63 | 356 | 0.1770 | -8 | c.365 others(25): Show |
PHLDB1 | ENSG00000019144.20 | transcript | ENST00000600882.6 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PHLDB2_chr3_111854265_111981517 | 111855629 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG01071.hp2 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0017a0001c0003t0007others(1): Show | a0001c0001t0003g0054a0001c0001t0003g0158a0001c0001t0003g0238others(16): Show | 19 | 286 | 0.0664 | -8 | c.-39 others(19): Show |
PHLDB2 | ENSG00000144824.21 | transcript | ENST00000431670.7 | protein_coding | 3635 | chr3 | TogoVar | ||||||
| PHLDB2_chr3_111854265_111981517 | 111866928 | GGGGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00733.hp1 others(34): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0028a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(8): Show | a0001c0001t0001g0107a0001c0001t0002g0002a0001c0001t0002g0005others(33): Show | 37 | 286 | 0.1294 | -8 | c.-15 others(25): Show |
PHLDB2 | ENSG00000144824.21 | transcript | ENST00000431670.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PHLDB2_chr3_111854265_111981517 | 111866930 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | NA18944.hp2 NA18991.hp2 NA19011.hp2 |
a0002a0015 | a0002c0002a0015c0025 | a0002c0002t0002a0015c0025t0002 | a0002c0002t0002g0001a0002c0002t0002g0039a0015c0025t0002g0001 | 3 | 286 | 0.0105 | -8 | c.-15 others(25): Show |
PHLDB2 | ENSG00000144824.21 | transcript | ENST00000431670.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |