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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCED1B_chr12_47074621_47241660 | 47217448 | G | GAAAGAAA others(27): Show |
intron_variant | MODIFIER | HG03516.hp2 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 a0001c0001t0002g0269 |
2 | 320 | 0.0063 | 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 | 45 | 0.0222 | 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 | a0002c0002t0002g0086 | 1 | 331 | 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 | a0001c0001t0001g0236 | 1 | 178 | 0.0056 | 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 | a0002c0002t0001g0068 | 1 | 330 | 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 | a0001c0001t0001g0159 a0001c0001t0004g0151 a0001c0001t0010g0149 others(1): Show |
4 | 304 | 0.0132 | 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 | 327 | 0.0031 | 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 | a0001c0001t0037g0036 | 1 | 67 | 0.0149 | 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 | a0001c0001t0008g0245 a0001c0001t0010g0178 |
2 | 68 | 0.0294 | 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 | a0001c0002t0003g0249 a0001c0002t0003g0275 |
2 | 3 | 0.6667 | 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 | 339 | 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 | a0001c0001t0001g0109 a0001c0001t0006g0084 |
2 | 202 | 0.0099 | 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 | 201 | 0.0050 | 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 | 201 | 0.0050 | 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 | a0001c0001t0001g0104 a0001c0001t0002g0112 |
2 | 202 | 0.0099 | 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 | a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0005g0074 others(2): Show |
5 | 48 | 0.1042 | 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 | a0001c0001t0001g0197 | 1 | 90 | 0.0111 | 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 | a0001c0001t0004g0270 | 1 | 428 | 0.0023 | 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 | a0001c0001t0002g0308 a0001c0012t0002g0292 |
2 | 168 | 0.0119 | 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 | a0001c0001a0005c0015a0006c0014 | a0001c0001t0002a0001c0001t0003a0005c0015t0002others(1): Show | a0001c0001t0002g0067 a0001c0001t0002g0228 a0001c0001t0002g0297 others(12): Show |
16 | 182 | 0.0879 | 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 | a0001c0001t0002g0196 a0001c0001t0003g0107 a0001c0001t0003g0116 others(2): Show |
5 | 171 | 0.0292 | 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 | a0001c0001t0002g0062 a0001c0001t0002g0251 |
2 | 168 | 0.0119 | 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 | a0001c0002t0066 | a0001c0002t0066g0187 | 1 | 119 | 0.0084 | 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 | a0001c0002t0084 | a0001c0002t0084g0170 | 1 | 119 | 0.0084 | 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 | a0001c0001t0064 | a0001c0001t0064g0164 | 1 | 137 | 0.0073 | 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 | a0001c0001t0041 | a0001c0001t0041g0094 | 1 | 137 | 0.0073 | 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 | a0004c0004t0002g0181 | 1 | 316 | 0.0032 | 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 | a0002c0002t0001g0099 | 1 | 83 | 0.0120 | 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 | a0001c0001t0001g0179 a0001c0001t0019g0234 |
2 | 66 | 0.0303 | 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 | 257 | 0.0039 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0120 others(8): Show |
11 | 93 | 0.1183 | 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 | 317 | 0.0032 | 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 | 36 | 0.0278 | 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 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0020 others(23): Show |
26 | 70 | 0.3714 | 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 | a0002c0005t0012g0149 a0002c0005t0012g0150 a0002c0005t0012g0151 |
3 | 25 | 0.1200 | 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 | 23 | 0.0435 | 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 | a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0309 others(5): Show |
9 | 31 | 0.2903 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(4): Show | a0001c0001t0001g0034 a0001c0001t0002g0050 a0001c0001t0011g0193 others(4): Show |
7 | 14 | 0.5000 | 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 | a0002c0012t0005 | a0002c0012t0005g0216 | 1 | 69 | 0.0145 | 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 | a0001c0001t0001g0099 a0001c0001t0003g0042 a0001c0001t0003g0142 |
3 | 75 | 0.0400 | 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 | a0001c0001t0001g0016 a0001c0001t0001g0067 a0001c0001t0001g0072 others(8): Show |
11 | 140 | 0.0786 | 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 |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0038 others(100): Show |
103 | 322 | 0.3199 | 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 | a0001c0001t0001g0087 a0001c0001t0001g0096 a0001c0001t0001g0242 others(19): Show |
22 | 322 | 0.0683 | 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 | a0001c0001t0005g0022 a0001c0002t0001g0075 a0001c0002t0005g0253 |
3 | 83 | 0.0361 | 34 | c.263 others(51): 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 | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 81 | 0.0123 | 34 | c.263 others(51): 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 | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 81 | 0.0123 | 34 | c.263 others(51): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156824327 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0052 | 1 | 115 | 0.0087 | 34 | c.315 others(53): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFRL_chr8_17572216_17648144 | 17641896 | T | TCCCCGCC others(27): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 40 | 0.0250 | 34 | c.940 others(49): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDIA2_chr16_278164_292215 | 285937 | C | CCCCGCGG others(27): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0111 | 1 | 386 | 0.0026 | 34 | c.111 others(51): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDIA5_chr3_123062025_123167104 | 123117374 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02886.hp1 HG03041.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0008 | a0001c0001t0001a0001c0003t0001a0002c0008t0001 | a0001c0001t0001g0083 a0001c0001t0001g0282 a0001c0003t0001g0270 others(1): Show |
4 | 14 | 0.2857 | 34 | c.609 others(51): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |