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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCDHB14_chr5_141218343_141232759 | 141221429 | G | GTATATAT others(27): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 NA19077.hp2 |
a0001a0013 | a0001c0004a0013c0025 | a0001c0004t0004a0013c0025t0006 | a0001c0004t0004g0000a0013c0025t0006g0000 | 2 | 448 | 0.0045 | 34 | c.-20 others(45): Show |
PCDHB14 | ENSG00000120327.7 | transcript | ENST00000239449.7 | protein_coding | 1913 | chr5 | TogoVar | ||||||
PCDHGA1_chr5_141325514_141517975 | 141347131 | G | GTTCTCTC others(27): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 268 | 0.0037 | 34 | c.242 others(55): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA2_chr5_141333760_141517975 | 141347131 | G | GTTCTCTC others(27): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0188 | 1 | 272 | 0.0037 | 34 | c.242 others(53): Show |
PCDHGA2 | ENSG00000081853.15 | transcript | ENST00000394576.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA3_chr5_141338829_141517975 | 141347131 | G | GTTCTCTC others(27): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 270 | 0.0037 | 34 | c.242 others(51): Show |
PCDHGA3 | ENSG00000254245.3 | transcript | ENST00000253812.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB1_chr5_141345099_141517975 | 141347131 | G | GTTCTCTC others(27): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 278 | 0.0036 | 34 | c.-31 others(45): Show |
PCDHGB1 | ENSG00000254221.3 | transcript | ENST00000523390.2 | protein_coding | 2967 | chr5 | TogoVar | ||||||
PCED1B_chr12_47074621_47241660 | 47089461 | C | CATGTATA others(27): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 322 | 0.0031 | 34 | c.-60 others(53): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCED1B_chr12_47074621_47241660 | 47217448 | G | GAAAGAAA others(27): Show |
intron_variant | MODIFIER | HG03516.hp2 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0185a0001c0001t0002g0290 | 2 | 322 | 0.0062 | 34 | c.-58 others(49): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCLO_chr7_82749012_83167884 | 82999583 | T | TATAAAAC others(27): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0017 | 1 | 188 | 0.0053 | 34 | c.330 others(55): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149762729 | T | TATCTATG others(27): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0087 | 1 | 334 | 0.0030 | 34 | c.56- others(49): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149787271 | A | AGAGAGGG others(27): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 334 | 0.0030 | 34 | c.193 others(51): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46320744 | C | CAGGCTCT others(27): Show |
upstream_gene_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0067 | 1 | 332 | 0.0030 | 34 | c.-34 others(45): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 3411 | chr21 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70910049 | T | TCCTCCTC others(27): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18949.hp2 NA19000.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0001g0159a0001c0001t0004g0151a0001c0001t0010g0149others(1): Show | 4 | 352 | 0.0114 | 34 | c.153 others(51): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910148 | T | TCCCCCTC others(27): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0162 | 1 | 352 | 0.0028 | 34 | c.153 others(51): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70994396 | G | GATAGATA others(27): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0046 | 1 | 352 | 0.0028 | 34 | c.244 others(53): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 7/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70994396 | G | GATATATA others(27): Show |
intron_variant | MODIFIER | HG03579.hp2 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010 | a0001c0001t0008g0245a0001c0001t0010g0177 | 2 | 352 | 0.0057 | 34 | c.244 others(53): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 7/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71119428 | C | CTTTTTTT others(27): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 NA18956.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0249a0001c0002t0003g0280 | 2 | 352 | 0.0057 | 34 | c.*94 others(45): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 4047 | chr14 | TogoVar | ||||||
PCOLCE2_chr3_142812874_142894083 | 142882587 | A | ATTATTAT others(27): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 342 | 0.0029 | 34 | c.192 others(51): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
PCOLCE2_chr3_142812874_142894083 | 142893993 | A | ATTATTAT others(27): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 HG02083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0109a0001c0001t0006g0084 | 2 | 342 | 0.0059 | 34 | c.-50 others(45): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 4911 | chr3 | TogoVar | ||||||
PCOLCE2_chr3_142812874_142894083 | 142893993 | A | ATTATTAT others(27): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0091 | 1 | 342 | 0.0029 | 34 | c.-50 others(45): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 4911 | chr3 | TogoVar | ||||||
PCOLCE2_chr3_142812874_142894083 | 142893993 | A | ATTATTAT others(27): Show |
upstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0064 | 1 | 342 | 0.0029 | 34 | c.-50 others(45): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 4911 | chr3 | TogoVar | ||||||
PCOLCE2_chr3_142812874_142894083 | 142893993 | A | ATTATTAT others(27): Show |
upstream_gene_variant | MODIFIER | NA18943.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0104a0001c0001t0002g0112 | 2 | 342 | 0.0059 | 34 | c.-50 others(45): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 4911 | chr3 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17333910 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00733.hp2 HG01099.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0016 | a0001c0001t0001g0141a0001c0001t0001g0159a0001c0001t0005g0073others(2): Show | 5 | 274 | 0.0183 | 34 | c.283 others(53): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17449526 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 274 | 0.0037 | 34 | c.886 others(51): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK7_chr11_117199337_117237073 | 117215364 | T | TTTTGTGT others(27): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0272 | 1 | 460 | 0.0022 | 34 | c.153 others(53): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | ||||||
PCSK7_chr11_117199337_117237073 | 117215380 | G | GTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01496.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0002a0001c0012t0002 | a0001c0001t0002g0310a0001c0012t0002g0294 | 2 | 460 | 0.0044 | 34 | c.153 others(53): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | ||||||
PCSK7_chr11_117199337_117237073 | 117215380 | G | GTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00673.hp2 HG02027.hp1 others(13): Show |
a0001a0005a0006 | a0001c0001a0005c0014a0006c0015 | a0001c0001t0002a0001c0001t0003a0005c0014t0002others(1): Show | a0001c0001t0002g0063a0001c0001t0002g0227a0001c0001t0002g0299others(13): Show | 16 | 460 | 0.0348 | 34 | c.153 others(53): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | ||||||
PCSK7_chr11_117199337_117237073 | 117215380 | G | GTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG00423.hp2 HG03654.hp2 HG03688.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0195a0001c0001t0003g0103a0001c0001t0003g0114others(2): Show | 5 | 460 | 0.0109 | 34 | c.153 others(53): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | ||||||
PCSK7_chr11_117199337_117237073 | 117215380 | G | GTGTGTGT others(27): Show |
intron_variant | MODIFIER | HG02602.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058a0001c0001t0002g0253 | 2 | 460 | 0.0044 | 34 | c.153 others(53): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24637491 | A | AAAAAAAA others(27): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0068 | a0001c0002t0068g0185 | 1 | 260 | 0.0039 | 34 | c.117 others(51): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24637491 | A | AAAAAATA others(27): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0086 | a0001c0002t0086g0169 | 1 | 260 | 0.0039 | 34 | c.117 others(51): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24637509 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0105 | a0001c0001t0105g0255 | 1 | 260 | 0.0039 | 34 | c.117 others(51): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24637509 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0099 | 1 | 260 | 0.0039 | 34 | c.117 others(51): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | ||||||
PDCD6IP_chr3_33793630_33874703 | 33821199 | G | GGGGTTTT others(27): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0183 | 1 | 318 | 0.0031 | 34 | c.335 others(49): Show |
PDCD6IP | ENSG00000170248.15 | transcript | ENST00000307296.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PDE11A_chr2_177618244_178077777 | 177819860 | T | TTCTCTTT others(27): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0100 | 1 | 170 | 0.0059 | 34 | c.157 others(51): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 7/19 | chr2 | TogoVar | ||||||
PDE1A_chr2_182135041_182432036 | 182264878 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0179a0001c0001t0019g0234 | 2 | 264 | 0.0076 | 34 | c.54- others(47): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
PDE1A_chr2_182135041_182432036 | 182264889 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 264 | 0.0038 | 34 | c.54- others(47): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
PDE3B_chr11_14638804_14877044 | 14749899 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00735.hp1 HG00738.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0099a0001c0001t0001g0104a0001c0001t0001g0120others(8): Show | 11 | 332 | 0.0331 | 34 | c.979 others(53): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PDE3B_chr11_14638804_14877044 | 14749910 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 332 | 0.0030 | 34 | c.979 others(53): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PDE4B_chr1_65787895_66379574 | 66090621 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0037 | 1 | 118 | 0.0085 | 34 | c.282 others(55): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PDE4D_chr5_58964038_59898726 | 59200088 | T | TATGTAGA others(27): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01169.hp1 HG01257.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0021others(23): Show | 26 | 74 | 0.3514 | 34 | c.648 others(51): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 2/14 | chr5 | TogoVar | ||||||
PDE5A_chr4_119489403_119633804 | 119632087 | G | GAGATATA others(27): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 NA18522.hp2 NA19240.hp1 |
a0002 | a0002c0005 | a0002c0005t0012 | a0002c0005t0012g0149a0002c0005t0012g0150a0002c0005t0012g0151 | 3 | 336 | 0.0089 | 34 | c.-34 others(45): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 3284 | chr4 | TogoVar | ||||||
PDE5A_chr4_119489403_119633804 | 119632087 | G | GATAGATA others(27): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0006 | a0002c0006t0030 | a0002c0006t0030g0314 | 1 | 336 | 0.0030 | 34 | c.-34 others(45): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 3284 | chr4 | TogoVar | ||||||
PDE5A_chr4_119489403_119633804 | 119632087 | G | GATATATA others(27): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG02523.hp1 HG02698.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003a0002c0003t0010 | a0001c0001t0001g0254a0001c0001t0001g0259a0001c0001t0001g0309others(5): Show | 9 | 336 | 0.0268 | 34 | c.-34 others(45): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 3284 | chr4 | TogoVar | ||||||
PDE6A_chr5_149852953_149949793 | 149900375 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01123.hp1 HG01261.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(4): Show | a0001c0001t0001g0038a0001c0001t0004g0053a0001c0001t0013g0196others(4): Show | 7 | 328 | 0.0213 | 34 | c.111 others(51): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 8/21 | chr5 | TogoVar | ||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0012 | a0002c0012t0006 | a0002c0012t0006g0211 | 1 | 328 | 0.0031 | 34 | c.858 others(51): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135935186 | T | TTTTATAT others(27): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG02074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0099a0001c0001t0003g0042a0001c0001t0003g0142 | 3 | 142 | 0.0211 | 34 | c.22- others(51): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE7B_chr6_135846701_136200574 | 135975574 | A | ACAGCTCT others(27): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02717.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0066a0001c0001t0001g0071others(8): Show | 11 | 142 | 0.0775 | 34 | c.82+ others(51): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42714528 | A | AGGTTAGC others(27): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(100): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0033a0001c0001t0001g0044a0001c0001t0001g0046others(100): Show | 103 | 324 | 0.3179 | 34 | c.262 others(53): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42714721 | G | GGGTTAGC others(27): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01074.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0092a0001c0001t0001g0101a0001c0001t0001g0249others(19): Show | 22 | 324 | 0.0679 | 34 | c.262 others(53): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDE9A_chr21_42648621_42780509 | 42726624 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02258.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001a0001c0002t0005 | a0001c0001t0005g0304a0001c0002t0001g0124a0001c0002t0005g0261 | 3 | 324 | 0.0093 | 34 | c.263 others(51): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |