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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAWR_chr12_79579879_79695964 | 79613961 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0004 | a0004c0006 | a0004c0006t0011 | a0004c0006t0011g0239 | 1 | 256 | 0.0039 | -35 | c.649 others(50): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 36973100 | GAAAGGAA others(28): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00738.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0110a0001c0001t0001g0212a0001c0001t0002g0084others(24): Show | 27 | 274 | 0.0985 | -35 | c.605 others(52): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | ||||||
PBK_chr8_27804624_27842817 | 27835914 | TGAGCACA others(28): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(383): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(227): Show | 386 | 392 | 0.9847 | -35 | c.-21 others(52): Show |
PBK | ENSG00000168078.10 | transcript | ENST00000301905.9 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45814421 | AGTGGTGA others(28): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 292 | 0.0034 | -35 | c.-12 others(56): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCCB_chr3_136245340_136335169 | 136319564 | ATTTTTGT others(28): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 300 | 0.0033 | -35 | c.109 others(54): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 10/14 | chr3 | TogoVar | ||||||
PCCB_chr3_136245340_136335169 | 136329078 | ATTTCTAG others(28): Show |
A | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 300 | 0.0033 | -35 | c.149 others(52): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 14/14 | chr3 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 31056441 | GGAAAGAA others(28): Show |
G | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0121 | 1 | 214 | 0.0047 | -35 | c.339 others(56): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCDH7_chr4_30715369_31151800 | 31097600 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(40): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0052a0001c0001t0001g0093a0001c0001t0002g0061others(40): Show | 43 | 214 | 0.2009 | -35 | c.339 others(56): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
PCDH9_chr13_66297834_67235336 | 66382506 | AACAAAGA others(28): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG02965.hp1 HG03579.hp1 |
a0001a0003 | a0001c0003a0001c0004a0003c0013 | a0001c0003t0001a0001c0004t0001a0003c0013t0002 | a0001c0003t0001g0039a0001c0004t0001g0043a0003c0013t0002g0015 | 3 | 80 | 0.0375 | -35 | c.334 others(56): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 4/4 | chr13 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 707466 | CCCTGTTT others(28): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(19): Show |
a0001a0002 | a0001c0003a0002c0007 | a0001c0003t0005a0001c0003t0010a0001c0003t0029others(2): Show | a0001c0003t0005g0122a0001c0003t0005g0123a0001c0003t0005g0124others(19): Show | 22 | 366 | 0.0601 | -35 | c.-19 others(54): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 707479 | TGGGGGCC others(28): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp2 others(28): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0002g0013a0001c0001t0003g0017a0001c0001t0003g0020others(28): Show | 31 | 366 | 0.0847 | -35 | c.-19 others(54): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCSK1_chr5_96385333_96438248 | 96424979 | TAGAAAGA others(28): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0020a0001c0001t0026a0001c0002t0012others(2): Show | a0001c0001t0020g0113a0001c0001t0026g0312a0001c0002t0012g0041others(3): Show | 6 | 392 | 0.0153 | -35 | c.396 others(50): Show |
PCSK1 | ENSG00000175426.11 | transcript | ENST00000311106.8 | protein_coding | 3/13 | chr5 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101386091 | GTCTCGGT others(28): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0006 | a0006c0020 | a0006c0020t0001 | a0006c0020t0001g0007 | 1 | 336 | 0.0030 | -35 | c.131 others(54): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 9/21 | chr15 | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24593441 | CTTTCTTT others(28): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01346.hp1 HG01993.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(3): Show | a0001c0001t0001g0076a0001c0001t0001g0108a0001c0001t0008g0040others(8): Show | 11 | 260 | 0.0423 | -35 | c.335 others(52): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 3/7 | chrX | TogoVar | ||||||
PDCD1_chr2_241844884_241863894 | 241861964 | CAATCTCC others(28): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 407 | 0.0025 | -35 | c.-31 others(46): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 3071 | chr2 | TogoVar | ||||||
PDCD1_chr2_241844884_241863894 | 241863367 | GTCAGCCA others(28): Show |
G | upstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0010 | 1 | 407 | 0.0025 | -35 | c.-45 others(46): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 4474 | chr2 | TogoVar | ||||||
PDE11A_chr2_177618244_178077777 | 177631499 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0003 | a0001c0003t0049 | a0001c0003t0049g0143 | 1 | 170 | 0.0059 | -35 | c.264 others(54): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 19/19 | chr2 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20464584 | GTAAGATG others(28): Show |
G | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 198 | 0.0051 | -35 | c.961 others(54): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | chr12 | TogoVar | ||||||
PDE4DIP_chr1_148839428_149038016 | 148866595 | AGGAAGGA others(28): Show |
A | intron_variant | MODIFIER | HG01981.hp1 HG03139.hp1 HG03579.hp2 |
a0001a0004a0008 | a0001c0001a0004c0016a0008c0012 | a0001c0001t0011a0004c0016t0014a0008c0012t0008 | a0001c0001t0011g0004a0004c0016t0014g0020a0008c0012t0008g0005 | 3 | 24 | 0.1250 | -35 | c.77- others(50): Show |
PDE4DIP | ENSG00000178104.22 | transcript | ENST00000695795.1 | protein_coding | 2/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PDE6A_chr5_149852953_149949793 | 149923503 | AATAACAT others(28): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02809.hp2 HG03098.hp2 others(1): Show |
a0003a0006 | a0003c0007a0006c0019 | a0003c0007t0001a0003c0007t0021a0006c0019t0006 | a0003c0007t0001g0317a0003c0007t0001g0318a0003c0007t0021g0316others(1): Show | 4 | 328 | 0.0122 | -35 | c.859 others(52): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 649644 | GAGGCCTG others(28): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02622.hp1 others(1): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0005a0001c0009t0009 | a0001c0001t0005g0265a0001c0009t0009g0050a0001c0009t0009g0263others(1): Show | 4 | 308 | 0.0130 | -35 | c.712 others(52): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDE6B_chr4_620573_675782 | 658028 | ATCCAGGG others(28): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG03041.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0093 | 3 | 308 | 0.0097 | -35 | c.140 others(52): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDGFB_chr22_39218359_39249982 | 39247878 | AAAAAAAA others(28): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02976.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0077a0001c0002t0006g0090 | 2 | 386 | 0.0052 | -35 | c.-39 others(46): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2897 | chr22 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247880 | AAAAAAAA others(28): Show |
A | upstream_gene_variant | MODIFIER | HG03453.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0036 | a0001c0001t0026g0096a0001c0001t0036g0153 | 2 | 386 | 0.0052 | -35 | c.-39 others(46): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2899 | chr22 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247882 | AAAAAAAA others(28): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0095 | 1 | 386 | 0.0026 | -35 | c.-39 others(46): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2901 | chr22 | TogoVar | ||||||
PDILT_chr16_20354175_20409737 | 20367008 | ATTTCTCT others(28): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0337 | 1 | 406 | 0.0025 | -35 | c.111 others(54): Show |
PDILT | ENSG00000169340.10 | transcript | ENST00000302451.9 | protein_coding | 8/11 | chr16 | TogoVar | ||||||
PDK1_chr2_172551090_172613669 | 172608062 | TGAGACCC others(28): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0067 | 1 | 342 | 0.0029 | -35 | c.*12 others(48): Show |
PDK1 | ENSG00000152256.14 | transcript | ENST00000282077.8 | protein_coding | 11/11 | 12095 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
PDLIM2_chr8_22575475_22599298 | 22598681 | TGCTAGGG others(28): Show |
T | downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 380 | 0.0026 | -35 | c.*47 others(46): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 4384 | chr8 | TogoVar | ||||||
PDPN_chr1_13578832_13622957 | 13602009 | ATGCCTTT others(28): Show |
A | intron_variant | MODIFIER | NA18986.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0204a0001c0001t0006g0205 | 2 | 446 | 0.0045 | -35 | c.68- others(50): Show |
PDPN | ENSG00000162493.17 | transcript | ENST00000621990.5 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117357766 | CAAAAAAA others(28): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 322 | 0.0031 | -35 | c.872 others(54): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41383969 | ATTTTTTT others(28): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00621.hp1 others(36): Show |
a0001a0002a0003others(6): Show | a0001c0004a0002c0002a0002c0009others(16): Show | a0001c0004t0001a0001c0004t0005a0002c0002t0001others(19): Show | a0001c0004t0001g0011a0001c0004t0001g0157a0001c0004t0005g0051others(36): Show | 39 | 206 | 0.1893 | -35 | c.844 others(56): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PEF1_chr1_31624866_31649876 | 31643086 | AGAAGACC others(28): Show |
A | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 | 1 | 346 | 0.0029 | -35 | c.24+ others(50): Show |
PEF1 | ENSG00000162517.13 | transcript | ENST00000373703.5 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
PET100_chr19_7624793_7636956 | 7627561 | GAAACCCC others(28): Show |
G | upstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 402 | 0.0025 | -35 | c.-22 others(46): Show |
PET100 | ENSG00000229833.11 | transcript | ENST00000594797.6 | protein_coding | 2231 | chr19 | TogoVar | ||||||
PET100_chr19_7624793_7636956 | 7633923 | AAAGGCCC others(28): Show |
A | downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | -35 | c.*23 others(46): Show |
PET100 | ENSG00000229833.11 | transcript | ENST00000594797.6 | protein_coding | 1968 | chr19 | TogoVar | ||||||
PEX12_chr17_35569795_35583571 | 35581290 | ATATATAT others(28): Show |
A | upstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0006 | 1 | 436 | 0.0023 | -35 | c.-33 others(46): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 2720 | chr17 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577546 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0255 | 1 | 258 | 0.0039 | -35 | c.170 others(54): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10577548 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 258 | 0.0039 | -35 | c.170 others(54): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PEX14_chr1_10469950_10635758 | 10577552 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01167.hp2 others(2): Show |
a0001a0004 | a0001c0002a0004c0011 | a0001c0002t0001a0004c0011t0001 | a0001c0002t0001g0183a0001c0002t0001g0185a0001c0002t0001g0196others(2): Show | 5 | 258 | 0.0194 | -35 | c.170 others(54): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PF4V1_chr4_73848296_73859483 | 73855073 | ATATATAT others(28): Show |
A | downstream_gene_variant | MODIFIER | HG02071.hp2 HG02615.hp1 HG03098.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0002t0001g0002 | 3 | 448 | 0.0067 | -35 | c.*95 others(44): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 591 | chr4 | TogoVar | ||||||
PF4V1_chr4_73848296_73859483 | 73855075 | ATATATAT others(28): Show |
A | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02055.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0002g0001a0001c0002t0001g0002 | 11 | 448 | 0.0246 | -35 | c.*95 others(44): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 593 | chr4 | TogoVar | ||||||
PFKL_chr21_44295053_44332373 | 44304022 | GCCAGTCC others(28): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(187): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(151): Show | 190 | 392 | 0.4847 | -35 | c.86- others(50): Show |
PFKL | ENSG00000141959.17 | transcript | ENST00000349048.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PGBD2_chr1_248901235_248924146 | 248915435 | AAAATAGG others(28): Show |
A | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0175 | 1 | 422 | 0.0024 | -35 | c.18- others(50): Show |
PGBD2 | ENSG00000185220.12 | transcript | ENST00000329291.6 | protein_coding | 2/2 | chr1 | TogoVar | ||||||
PGM2_chr4_37821686_37867937 | 37844412 | TGGGGTGG others(28): Show |
T | frameshift_variant | HIGH | NA19076.hp2 | a0006 | a0006c0017 | a0006c0017t0005 | a0006c0017t0005g0272 | 1 | 446 | 0.0022 | -35 | c.771 others(42): Show |
p.Val others(5): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 7/14 | 818/3211 | 771/1839 | 257/612 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
PHACTR1_chr6_12711767_13292837 | 13218853 | AAAGAGAA others(28): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01261.hp1 HG01361.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0032others(22): Show | 25 | 108 | 0.2315 | -35 | c.987 others(52): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR2_chr6_143672965_143836185 | 143676969 | AAAATGAT others(28): Show |
A | upstream_gene_variant | MODIFIER | HG02559.hp1 HG02615.hp2 HG02622.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0018others(1): Show | a0001c0001t0011a0001c0001t0029a0001c0001t0041others(4): Show | a0001c0001t0011g0305a0001c0001t0029g0306a0001c0001t0041g0309others(4): Show | 7 | 310 | 0.0226 | -35 | c.-11 others(46): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 995 | chr6 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59675101 | CTTCCCTT others(28): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0159 | 1 | 250 | 0.0040 | -35 | c.119 others(54): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
PHF20L1_chr8_132770388_132853807 | 132775216 | CCAGAGCC others(28): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0156a0001c0001t0001g0157others(3): Show | 8 | 392 | 0.0204 | -35 | c.-46 others(44): Show |
PHF20L1 | ENSG00000129292.21 | transcript | ENST00000395386.7 | protein_coding | 171 | chr8 | TogoVar | ||||||
PHF2_chr9_93571584_93684587 | 93671770 | GGATGTAG others(28): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02647.hp2 others(1): Show |
a0001 | a0001c0001a0001c0015a0001c0017 | a0001c0001t0001a0001c0015t0013a0001c0017t0001 | a0001c0001t0001g0295a0001c0001t0001g0296a0001c0015t0013g0147others(1): Show | 4 | 350 | 0.0114 | -35 | c.234 others(54): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PHGR1_chr15_40346033_40361434 | 40357440 | ACTGGAGT others(28): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG03927.hp2 NA20905.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0007a0001c0001t0001g0086a0002c0002t0001g0011 | 3 | 436 | 0.0069 | -35 | c.*11 others(46): Show |
PHGR1 | ENSG00000233041.8 | transcript | ENST00000448599.2 | protein_coding | 1007 | chr15 | TogoVar | ||||||
PHOSPHO1_chr17_49218366_49235787 | 49228262 | TTCCTTCC others(28): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 420 | 0.0024 | -35 | c.-67 others(52): Show |
PHOSPHO1 | ENSG00000173868.12 | transcript | ENST00000310544.9 | protein_coding | 1/2 | chr17 | TogoVar |