view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OSGEPL1_chr2_189741660_189767792 | 189742865 | GACACACA others(45): Show |
G | downstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 224 | 0.0045 | -52 | c.*42 others(63): Show |
OSGEPL1 | ENSG00000128694.12 | transcript | ENST00000264151.10 | protein_coding | 3794 | chr2 | TogoVar | |||||||
OSTF1_chr9_75083514_75152265 | 75128477 | CATATATA others(45): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG03098.hp1 NA19009.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009 | a0001c0001t0002g0145 a0001c0001t0004g0154 a0001c0001t0004g0319 others(1): Show |
4 | 118 | 0.0339 | -52 | c.132 others(67): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OTUD7A_chr15_31470398_31875673 | 31510784 | TACATATG others(45): Show |
T | intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 243 | 0.0041 | -52 | c.894 others(69): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3685986 | CCAGCCTG others(45): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 2 | 358 | 0.0056 | -52 | c.981 others(69): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3699873 | GAAAGGAA others(45): Show |
G | upstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 360 | 0.0028 | -52 | c.-39 others(63): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3719 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3699877 | GGAAGGAA others(45): Show |
G | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01069.hp2 HG01071.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0240 a0001c0001t0001g0270 others(8): Show |
12 | 338 | 0.0355 | -52 | c.-39 others(63): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3723 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3699881 | GGAAGGAA others(45): Show |
G | upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 350 | 0.0029 | -52 | c.-39 others(63): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3727 | chr17 | TogoVar | |||||||
P2RY2_chr11_73213281_73247427 | 73244193 | TCCTTTCC others(45): Show |
T | downstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 413 | 0.0024 | -52 | c.*89 others(63): Show |
P2RY2 | ENSG00000175591.12 | transcript | ENST00000393597.7 | protein_coding | 1767 | chr11 | TogoVar | |||||||
PABIR1_chr9_68775065_68790566 | 68779149 | GACTGAAT others(45): Show |
G | upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 434 | 0.0023 | -52 | c.-10 others(62): Show |
PABIR1 | ENSG00000187866.10 | transcript | ENST00000394264.7 | protein_coding | 915 | chr9 | TogoVar | |||||||
PACS2_chr14_105309748_105403147 | 105356645 | CTGTTTCC others(45): Show |
C | intron_variant | MODIFIER | HG02976.hp2 NA19030.hp2 |
a0002 | a0002c0002 | a0002c0002t0026a0002c0002t0027 | a0002c0002t0026g0188 a0002c0002t0027g0113 |
2 | 208 | 0.0096 | -52 | c.423 others(69): Show |
PACS2 | ENSG00000179364.15 | transcript | ENST00000447393.6 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PACS2_chr14_105309748_105403147 | 105356871 | TCAGGCGA others(45): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0005 | a0002c0005t0018 | a0002c0005t0018g0177 | 1 | 189 | 0.0053 | -52 | c.423 others(69): Show |
PACS2 | ENSG00000179364.15 | transcript | ENST00000447393.6 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAH_chr12_102831889_102922244 | 102868126 | GTATATAT others(45): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02451.hp1 others(11): Show |
a0001a0003 | a0001c0003a0001c0004a0001c0015others(1): Show | a0001c0003t0003a0001c0004t0001a0001c0004t0002others(4): Show | a0001c0003t0003g0286 a0001c0004t0001g0100 a0001c0004t0001g0136 others(11): Show |
14 | 263 | 0.0532 | -52 | c.442 others(69): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAQR5_chr15_69293912_69412780 | 69355292 | CTTTCTTT others(45): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02622.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0002g0125 others(6): Show |
9 | 281 | 0.0320 | -52 | c.-11 others(71): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205380230 | GTAAAGAA others(45): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG02723.hp1 HG03453.hp1 others(2): Show |
a0002a0003a0004others(1): Show | a0002c0004a0002c0008a0003c0010others(2): Show | a0002c0004t0002a0002c0008t0001a0003c0010t0006others(2): Show | a0002c0004t0002g0035 a0002c0008t0001g0054 a0003c0010t0006g0021 others(2): Show |
5 | 54 | 0.0926 | -52 | c.263 others(73): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD6G_chr18_80152232_80252514 | 80184502 | GCAGAGGG others(45): Show |
G | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0227 | 1 | 379 | 0.0026 | -52 | c.295 others(71): Show |
PARD6G | ENSG00000178184.16 | transcript | ENST00000353265.8 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
PASD1_chrX_151558675_151681739 | 151653860 | CTCCCTCC others(45): Show |
C | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0136 | 1 | 207 | 0.0048 | -52 | c.717 others(69): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PATL1_chr11_59631716_59674037 | 59672314 | ATATATAT others(45): Show |
A | upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 273 | 0.0037 | -52 | c.-34 others(63): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 3278 | chr11 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771859 | TGAGAGAG others(45): Show |
T | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02717.hp1 HG03540.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0025 a0002c0005t0001g0039 |
3 | 339 | 0.0088 | -52 | c.-24 others(61): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 105 | chr21 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771897 | AGAGAGAG others(45): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02055.hp2 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0126 a0001c0001t0001g0165 |
3 | 358 | 0.0084 | -52 | c.-28 others(61): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 143 | chr21 | TogoVar | |||||||
PBX3_chr9_125742373_125972377 | 125780370 | ACCCCACC others(45): Show |
A | intron_variant | MODIFIER | HG01346.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 a0001c0001t0002g0094 |
2 | 292 | 0.0068 | -52 | c.274 others(71): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45886286 | GCAGAGGA others(45): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(160): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 others(159): Show |
163 | 290 | 0.5621 | -52 | c.11- others(67): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45886422 | TGCGGGTG others(45): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 290 | 0.0034 | -52 | c.11- others(67): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45886600 | CGTGGTGA others(45): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(258): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 others(257): Show |
261 | 290 | 0.9000 | -52 | c.11- others(67): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45898308 | AGTCTCCC others(45): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01928.hp2 HG01943.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0013a0001c0001t0017others(5): Show | a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 others(42): Show |
45 | 289 | 0.1557 | -52 | c.166 others(69): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92132623 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG03041.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(1): Show | a0001c0001t0001g0102 a0001c0001t0006g0021 a0001c0001t0006g0053 others(2): Show |
5 | 152 | 0.0329 | -52 | c.303 others(73): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54307040 | GTATATAT others(45): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00741.hp2 others(9): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0002g0068 others(9): Show |
12 | 77 | 0.1558 | -52 | c.876 others(71): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54307052 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 100 | 0.0100 | -52 | c.876 others(71): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54307040 | GTATATAT others(45): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG00741.hp2 others(8): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0038 a0001c0001t0001g0063 others(8): Show |
11 | 71 | 0.1549 | -52 | c.876 others(71): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54307052 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 92 | 0.0109 | -52 | c.876 others(71): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 721729 | TCTCTGTG others(45): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(57): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0026 others(56): Show |
60 | 364 | 0.1648 | -52 | c.-18 others(71): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 758686 | CCCCTCTC others(45): Show |
C | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 363 | 0.0028 | -52 | c.463 others(69): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 759269 | CCCCTCTC others(45): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0287 | 1 | 364 | 0.0027 | -52 | c.463 others(69): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 759534 | CCCCTCTC others(45): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0287 | 1 | 364 | 0.0027 | -52 | c.463 others(69): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCMTD2_chr20_64250748_64281226 | 64270179 | TGTGCACG others(45): Show |
T | intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 330 | 0.0030 | -52 | c.706 others(69): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17303495 | AATATAAT others(45): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(64): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0164 others(64): Show |
67 | 270 | 0.2481 | -52 | c.282 others(71): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101311911 | CCCCTCAC others(45): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG06807.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0001 | a0001c0003t0002g0049 a0001c0004t0001g0100 |
2 | 327 | 0.0061 | -52 | c.269 others(71): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318166 | TCCCACCC others(45): Show |
T | downstream_gene_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0286 | 1 | 351 | 0.0028 | -52 | c.*36 others(63): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3193 | chr5 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177660080 | TTTCTTTC others(45): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG00735.hp2 others(21): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0011others(14): Show | a0001c0001t0003g0049 a0001c0001t0003g0138 a0001c0001t0007g0052 others(21): Show |
24 | 168 | 0.1429 | -52 | c.264 others(71): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 19/19 | chr2 | TogoVar | |||||||
PDE3A_chr12_20363537_20693583 | 20386102 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0009 | a0001c0001t0026a0002c0004t0124a0003c0009t0115 | a0001c0001t0026g0014 a0001c0001t0026g0015 a0002c0004t0124g0194 others(1): Show |
4 | 138 | 0.0290 | -52 | c.960 others(71): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20386120 | TAAATATA others(45): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01516.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0082a0001c0001t0085 | a0001c0001t0032g0004 a0001c0001t0082g0170 a0001c0001t0085g0002 |
3 | 66 | 0.0455 | -52 | c.960 others(71): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 58981450 | AAAGTTAA others(45): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp1 HG01071.hp2 others(60): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(60): Show |
63 | 74 | 0.8514 | -52 | c.155 others(71): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 11/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59574059 | AAAATATA others(45): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02895.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0004t0007 | a0001c0001t0003g0044 a0001c0001t0005g0050 a0001c0004t0007g0011 |
3 | 73 | 0.0411 | -52 | c.455 others(73): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59574093 | TAAATATA others(45): Show |
T | intron_variant | MODIFIER | HG01884.hp1 NA18945.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0038 a0001c0001t0002g0053 a0001c0001t0011g0017 |
3 | 74 | 0.0405 | -52 | c.455 others(73): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE9A_chr21_42648621_42780509 | 42670373 | CACACATT others(45): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02145.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0018 a0001c0001t0002g0016 a0001c0001t0005g0022 others(11): Show |
14 | 322 | 0.0435 | -52 | c.70- others(69): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402610 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | HG03704.hp1 | a0004 | a0004c0003 | a0004c0003t0002 | a0004c0003t0002g0058 | 1 | 206 | 0.0049 | -52 | c.844 others(73): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 179901187 | TAAAACAT others(45): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp2 others(197): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0035 others(197): Show |
200 | 218 | 0.9174 | -52 | c.94- others(67): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 2/14 | chr3 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230395718 | TCTCCTCA others(45): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG04204.hp2 |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0030 | a0002c0003t0002g0236 a0002c0003t0030g0234 |
2 | 284 | 0.0070 | -52 | c.331 others(71): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
PGF_chr14_74936834_74960597 | 74945324 | AACTCGGG others(45): Show |
A | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 404 | 0.0025 | -52 | c.485 others(67): Show |
PGF | ENSG00000119630.14 | transcript | ENST00000555567.6 | protein_coding | 6/6 | chr14 | TogoVar | |||||||
PHACTR3_chr20_59599540_59852711 | 59785824 | GCTTCATT others(45): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0097 a0001c0001t0003g0090 a0001c0001t0006g0022 others(1): Show |
4 | 248 | 0.0161 | -52 | c.117 others(73): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHLDB3_chr19_43470103_43509746 | 43509339 | ATACAAAA others(45): Show |
A | upstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0215 | 1 | 394 | 0.0025 | -52 | c.-48 others(63): Show |
PHLDB3 | ENSG00000176531.11 | transcript | ENST00000292140.10 | protein_coding | 4594 | chr19 | TogoVar |