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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCDH7_chr4_30715369_31151800 | 30894479 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0181 | 1 | 214 | 0.0047 | -21 | c.317 others(42): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCDH7_chr4_30715369_31151800 | 31097614 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | NA21309.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0037a0001c0005t0022 | a0001c0001t0037g0074a0001c0005t0022g0102 | 2 | 214 | 0.0094 | -21 | c.339 others(42): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 31108369 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG02055.hp2 NA19030.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0004a0001c0006t0007 | a0001c0002t0004g0135a0001c0006t0007g0210 | 2 | 214 | 0.0094 | -21 | c.339 others(42): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCDH9_chr13_66297834_67235336 | 66811606 | TCTGCCTG others(14): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG03041.hp2 others(2): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0015others(2): Show | a0001c0001t0006a0001c0002t0009a0001c0015t0001others(2): Show | a0001c0001t0006g0063a0001c0002t0009g0014a0001c0015t0001g0048others(2): Show | 5 | 80 | 0.0625 | -21 | c.313 others(42): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 3/4 | chr13 | TogoVar | ||||||
PCDHA10_chr5_140850897_141017347 | 140924895 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01978.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203a0001c0001t0001g0204 | 2 | 260 | 0.0077 | -21 | c.238 others(42): Show |
PCDHA10 | ENSG00000250120.8 | transcript | ENST00000307360.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA11_chr5_140863957_141017347 | 140924895 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01978.hp2 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071a0001c0001t0001g0072 | 2 | 260 | 0.0077 | -21 | c.239 others(42): Show |
PCDHA11 | ENSG00000249158.7 | transcript | ENST00000398640.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA12_chr5_140870308_141017347 | 140924895 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01978.hp2 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074a0001c0001t0001g0075 | 2 | 260 | 0.0077 | -21 | c.236 others(42): Show |
PCDHA12 | ENSG00000251664.5 | transcript | ENST00000398631.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA13_chr5_140877124_141017347 | 140924895 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01978.hp2 HG02257.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0083a0001c0002t0001g0084 | 2 | 260 | 0.0077 | -21 | c.239 others(42): Show |
PCDHA13 | ENSG00000239389.8 | transcript | ENST00000289272.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA1_chr5_140781140_141017347 | 140924895 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01978.hp2 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0044 | 2 | 200 | 0.0100 | -21 | c.239 others(42): Show |
PCDHA1 | ENSG00000204970.10 | transcript | ENST00000504120.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA2_chr5_140789852_141017347 | 140924895 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01978.hp1 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0042 | 2 | 202 | 0.0099 | -21 | c.238 others(42): Show |
PCDHA2 | ENSG00000204969.7 | transcript | ENST00000526136.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA3_chr5_140796057_141017347 | 140924895 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01978.hp2 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0067 | 2 | 208 | 0.0096 | -21 | c.239 others(42): Show |
PCDHA3 | ENSG00000255408.4 | transcript | ENST00000522353.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA4_chr5_140802068_141017347 | 140924895 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01978.hp2 HG02257.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0059a0002c0002t0001g0065 | 2 | 212 | 0.0094 | -21 | c.238 others(42): Show |
PCDHA4 | ENSG00000204967.13 | transcript | ENST00000530339.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA5_chr5_140816613_141017347 | 140924895 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01978.hp1 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162a0001c0001t0001g0180 | 2 | 220 | 0.0091 | -21 | c.235 others(42): Show |
PCDHA5 | ENSG00000204965.9 | transcript | ENST00000529859.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA6_chr5_140822960_141017347 | 140924895 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01978.hp1 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101a0001c0001t0001g0106 | 2 | 236 | 0.0085 | -21 | c.239 others(42): Show |
PCDHA6 | ENSG00000081842.18 | transcript | ENST00000529310.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA7_chr5_140829269_141017347 | 140924895 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01978.hp2 HG02257.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0107a0002c0001t0001g0117 | 2 | 248 | 0.0081 | -21 | c.235 others(42): Show |
PCDHA7 | ENSG00000204963.6 | transcript | ENST00000525929.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA8_chr5_140836187_141017347 | 140924895 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01978.hp2 HG02257.hp2 |
a0002a0013 | a0002c0002a0013c0016 | a0002c0002t0001a0013c0016t0001 | a0002c0002t0001g0204a0013c0016t0001g0203 | 2 | 258 | 0.0078 | -21 | c.239 others(42): Show |
PCDHA8 | ENSG00000204962.6 | transcript | ENST00000531613.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHA9_chr5_140843382_141017347 | 140924895 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01978.hp1 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175a0001c0001t0001g0176 | 2 | 256 | 0.0078 | -21 | c.239 others(42): Show |
PCDHA9 | ENSG00000204961.7 | transcript | ENST00000532602.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHAC1_chr5_140921299_141017347 | 140924895 | AAAAAAAA others(14): Show |
A | upstream_gene_variant | MODIFIER | HG01978.hp1 HG02257.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0133a0001c0002t0001g0175 | 2 | 280 | 0.0071 | -21 | c.-19 others(32): Show |
PCDHAC1 | ENSG00000248383.5 | transcript | ENST00000253807.3 | protein_coding | 1403 | chr5 | TogoVar | ||||||
PCDHB1_chr5_141046374_141064346 | 141048112 | CAATTTTT others(14): Show |
C | upstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 1 | 422 | 0.0024 | -21 | c.-33 others(32): Show |
PCDHB1 | ENSG00000171815.6 | transcript | ENST00000306549.6 | protein_coding | 3261 | chr5 | TogoVar | ||||||
PCED1B_chr12_47074621_47241660 | 47089480 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0241 | 1 | 322 | 0.0031 | -21 | c.-60 others(40): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 733050 | GCCCCTGC others(14): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 NA19240.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002a0002c0002t0057 | a0001c0001t0002g0329a0002c0002t0002g0331a0002c0002t0057g0330 | 3 | 366 | 0.0082 | -21 | c.-9- others(34): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | chr4 | TogoVar | ||||||
PCGF6_chr10_103297796_103356140 | 103339807 | AAAAACAC others(14): Show |
A | intron_variant | MODIFIER | HG00609.hp2 NA18747.hp1 NA18977.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279a0001c0001t0001g0280a0001c0001t0001g0307others(1): Show | 4 | 372 | 0.0108 | -21 | c.782 others(38): Show |
PCGF6 | ENSG00000156374.16 | transcript | ENST00000369847.4 | protein_coding | 6/9 | chr10 | TogoVar | ||||||
PCLAF_chr15_64359304_64386441 | 64377489 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02922.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0060a0001c0001t0014g0279a0001c0001t0014g0280 | 3 | 298 | 0.0101 | -21 | c.128 others(36): Show |
PCLAF | ENSG00000166803.14 | transcript | ENST00000300035.9 | protein_coding | 2/3 | chr15 | TogoVar | ||||||
PCM1_chr8_17917988_18034948 | 18001995 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00609.hp2 others(40): Show |
a0001a0003a0009others(2): Show | a0001c0001a0003c0003a0003c0006others(5): Show | a0001c0001t0002a0003c0003t0002a0003c0003t0011others(14): Show | a0001c0001t0002g0045a0001c0001t0002g0072a0003c0003t0002g0216others(40): Show | 43 | 368 | 0.1169 | -21 | c.482 others(40): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 29/38 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17348031 | GAAGAAAG others(14): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG02071.hp1 HG02738.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0013a0001c0001t0015others(1): Show | a0001c0001t0008g0242a0001c0001t0008g0246a0001c0001t0013g0119others(3): Show | 6 | 274 | 0.0219 | -21 | c.283 others(40): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 75994396 | CTTTCTTT others(14): Show |
C | intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0087 | 1 | 166 | 0.0060 | -21 | c.411 others(38): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 75994400 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0025 | 1 | 166 | 0.0060 | -21 | c.411 others(38): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76173496 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 NA19030.hp1 |
a0002a0011 | a0002c0016a0002c0047a0011c0007 | a0002c0016t0019a0002c0047t0045a0011c0007t0008 | a0002c0016t0019g0064a0002c0047t0045g0123a0011c0007t0008g0006 | 3 | 166 | 0.0181 | -21 | c.175 others(40): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK6_chr15_101298933_101494707 | 101490312 | GCAGGCCG others(14): Show |
G | upstream_gene_variant | MODIFIER | HG00735.hp2 HG02647.hp2 HG02886.hp1 others(3): Show |
a0001a0004 | a0001c0019a0001c0058a0001c0059others(1): Show | a0001c0019t0001a0001c0019t0003a0001c0019t0005others(3): Show | a0001c0019t0001g0306a0001c0019t0003g0303a0001c0019t0005g0304others(3): Show | 6 | 336 | 0.0179 | -21 | c.-66 others(30): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 606 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101490320 | TGCAGGTG others(14): Show |
T | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02451.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0267a0001c0001t0001g0269a0001c0001t0002g0270others(6): Show | 9 | 336 | 0.0268 | -21 | c.-67 others(30): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 614 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101490383 | TGCAGGTG others(14): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0146 | 1 | 336 | 0.0030 | -21 | c.-73 others(30): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 677 | chr15 | TogoVar | ||||||
PCYT1A_chr3_196229368_196292726 | 196243493 | TCCCTCTC others(14): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0288 | 1 | 310 | 0.0032 | -21 | c.487 others(36): Show |
PCYT1A | ENSG00000161217.12 | transcript | ENST00000431016.6 | protein_coding | 5/8 | chr3 | TogoVar | ||||||
PCYT1A_chr3_196229368_196292726 | 196250485 | GGCTGAGG others(14): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01070.hp1 HG01071.hp1 others(19): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0013a0001c0001t0017others(1): Show | a0001c0001t0003g0163a0001c0001t0003g0164a0001c0001t0003g0165others(18): Show | 22 | 310 | 0.0710 | -21 | c.218 others(38): Show |
PCYT1A | ENSG00000161217.12 | transcript | ENST00000431016.6 | protein_coding | 3/8 | chr3 | TogoVar | ||||||
PCYT1A_chr3_196229368_196292726 | 196250779 | CCAGATAC others(14): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0288 | 1 | 310 | 0.0032 | -21 | c.218 others(38): Show |
PCYT1A | ENSG00000161217.12 | transcript | ENST00000431016.6 | protein_coding | 3/8 | chr3 | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24593445 | CTTTTCTT others(14): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0067 | a0001c0002t0067g0176 | 1 | 260 | 0.0039 | -21 | c.335 others(38): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 3/7 | chrX | TogoVar | ||||||
PDAP1_chr7_99389673_99413597 | 99397056 | CCTCCACG others(14): Show |
C | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0152a0001c0001t0005g0158 | 2 | 334 | 0.0060 | -21 | c.488 others(36): Show |
PDAP1 | ENSG00000106244.13 | transcript | ENST00000350498.8 | protein_coding | 5/5 | chr7 | TogoVar | ||||||
PDCD11_chr10_103391626_103451294 | 103422055 | TTTATTAT others(14): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG03491.hp2 others(5): Show |
a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0007a0005c0009t0001g0026a0005c0009t0001g0117others(1): Show | 8 | 362 | 0.0221 | -21 | c.249 others(38): Show |
PDCD11 | ENSG00000148843.15 | transcript | ENST00000369797.8 | protein_coding | 17/35 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PDE1C_chr7_31746179_32075407 | 32027607 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01257.hp1 others(8): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0060a0001c0001t0001g0189a0001c0001t0002g0105others(8): Show | 11 | 262 | 0.0420 | -21 | c.128 others(40): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20386049 | TAAATATA others(14): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG02896.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0092a0001c0001t0094a0001c0001t0098others(3): Show | a0001c0001t0092g0123a0001c0001t0094g0122a0001c0001t0098g0121others(3): Show | 6 | 198 | 0.0303 | -21 | c.960 others(40): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3A_chr12_20363537_20693583 | 20467933 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG03098.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0011a0001c0001t0028a0001c0001t0068others(3): Show | a0001c0001t0011g0011a0001c0001t0028g0012a0001c0001t0068g0010others(3): Show | 6 | 198 | 0.0303 | -21 | c.961 others(40): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3A_chr12_20363537_20693583 | 20541075 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0100 | 1 | 198 | 0.0051 | -21 | c.961 others(40): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3A_chr12_20363537_20693583 | 20574558 | CTTATTTA others(14): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(1): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0137a0002c0002t0138a0002c0005t0013 | a0002c0002t0137g0193a0002c0002t0138g0031a0002c0005t0013g0104others(1): Show | 4 | 198 | 0.0202 | -21 | c.101 others(42): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE6A_chr5_149852953_149949793 | 149923505 | TAACATAA others(14): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0006 | a0001c0006t0024 | a0001c0006t0024g0049 | 1 | 328 | 0.0031 | -21 | c.859 others(38): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 630215 | AGGCCGAG others(14): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0043 | 1 | 308 | 0.0033 | -21 | c.468 others(38): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDE6C_chr10_93607537_93671010 | 93654790 | CTTTCTTT others(14): Show |
C | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0019 | 1 | 384 | 0.0026 | -21 | c.193 others(38): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135935166 | AGAATTTT others(14): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004 | a0001c0001t0002g0092a0001c0002t0004g0008 | 2 | 142 | 0.0141 | -21 | c.22- others(38): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247876 | AAAAAAAA others(14): Show |
A | upstream_gene_variant | MODIFIER | HG01256.hp1 HG03669.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0002g0201a0001c0001t0002g0203 | 3 | 386 | 0.0078 | -21 | c.-39 others(32): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2895 | chr22 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247880 | AAAAAAAA others(14): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG03486.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0003a0002c0004t0041 | a0001c0001t0002g0197a0001c0001t0003g0005a0002c0004t0041g0196 | 3 | 386 | 0.0078 | -21 | c.-39 others(32): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2899 | chr22 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247884 | AAAAAAAT others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 386 | 0.0026 | -21 | c.-39 others(32): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2903 | chr22 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156825551 | AAATAATA others(14): Show |
A | intron_variant | MODIFIER | HG02155.hp2 HG04228.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0077a0001c0002t0005g0070 | 2 | 208 | 0.0096 | -21 | c.315 others(40): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar |