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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCNX1_chr14_70902459_71120382 | 71003080 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03041.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0039a0001c0003t0013 | a0001c0001t0039g0006 a0001c0003t0013g0134 a0001c0003t0013g0136 others(1): Show |
4 | 104 | 0.0385 | 19 | c.263 others(38): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 8/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 71119428 | C | CTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00741.hp1 others(26): Show |
a0001 | a0001c0001a0001c0013a0001c0020others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(9): Show | a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0185 others(26): Show |
29 | 30 | 0.9667 | 19 | c.*94 others(30): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 4047 | chr14 | TogoVar | |||||||
PCNX2_chr1_232978435_233300725 | 233169644 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0006 | a0006c0041 | a0006c0041t0002 | a0006c0041t0002g0046 | 1 | 120 | 0.0083 | 19 | c.327 others(38): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 17/33 | chr1 | TogoVar | |||||||
PCOLCE_chr7_100597363_100613175 | 100607090 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03098.hp2 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0029 a0001c0001t0001g0046 a0002c0002t0002g0045 |
3 | 260 | 0.0115 | 19 | c.941 others(34): Show |
PCOLCE | ENSG00000106333.13 | transcript | ENST00000223061.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PCSK1_chr5_96385333_96438248 | 96412752 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0125 | 1 | 106 | 0.0094 | 19 | c.710 others(34): Show |
PCSK1 | ENSG00000175426.11 | transcript | ENST00000311106.8 | protein_coding | 6/13 | chr5 | TogoVar | |||||||
PCSK2_chr20_17222040_17489578 | 17433812 | T | TCTCTCTC others(12): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 221 | 0.0045 | 19 | c.710 others(36): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17450017 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0154 | 1 | 36 | 0.0278 | 19 | c.886 others(36): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 76173496 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0095 | a0001c0095t0002 | a0001c0095t0002g0102 | 1 | 12 | 0.0833 | 19 | c.175 others(38): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101316910 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03579.hp2 NA19240.hp1 |
a0001 | a0001c0003a0001c0010 | a0001c0003t0005a0001c0010t0005 | a0001c0003t0005g0068 a0001c0010t0005g0253 |
2 | 148 | 0.0135 | 19 | c.256 others(38): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 19/21 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101342129 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0285 | 1 | 74 | 0.0135 | 19 | c.185 others(40): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 13/21 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101392593 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01884.hp1 HG01884.hp2 others(6): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0001c0010others(3): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(6): Show | a0001c0002t0001g0179 a0001c0002t0003g0294 a0001c0003t0001g0112 others(6): Show |
9 | 82 | 0.1098 | 19 | c.120 others(36): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 8/21 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101489563 | G | GGCGCCCC others(12): Show |
frameshift_variant | HIGH | NA18967.hp2 | a0016 | a0016c0066 | a0016c0066t0002 | a0016c0066t0002g0323 | 1 | 287 | 0.0035 | 19 | c.107 others(26): Show |
p.Pro others(4): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 1/22 | 144/4272 | 107/2910 | 36/969 | chr15 | TogoVar | |||
PCSK6_chr15_101298933_101494707 | 101489575 | G | GCCCCCCG others(12): Show |
frameshift_variant | HIGH | HG02148.hp2 | a0012 | a0012c0072 | a0012c0072t0001 | a0012c0072t0001g0335 | 1 | 322 | 0.0031 | 19 | c.77_ others(24): Show |
p.Ala others(4): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 1/22 | 132/4272 | 95/2910 | 32/969 | chr15 | TogoVar | |||
PCYOX1_chr2_70253137_70286185 | 70283096 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0033 | 1 | 246 | 0.0041 | 19 | c.*57 others(30): Show |
PCYOX1 | ENSG00000116005.12 | transcript | ENST00000433351.7 | protein_coding | 1912 | chr2 | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24637491 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01496.hp2 HG03017.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0031a0001c0001t0050 | a0001c0001t0001g0128 a0001c0001t0031g0127 a0001c0001t0031g0129 others(1): Show |
4 | 122 | 0.0328 | 19 | c.117 others(36): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | |||||||
PC_chr11_66843420_66963383 | 66903773 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | 113 | 0.0177 | 19 | c.1-3 others(34): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 3/22 | chr11 | TogoVar | |||||||
PC_chr11_66843420_66963383 | 66903773 | A | AAAAATAT others(12): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 112 | 0.0089 | 19 | c.1-3 others(34): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 3/22 | chr11 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 310792 | T | TTTGTATA others(12): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 358 | 0.0028 | 19 | c.368 others(34): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 318164 | C | CCCCCTTC others(12): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 358 | 0.0028 | 19 | c.*36 others(30): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3191 | chr5 | TogoVar | |||||||
PDCL2_chr4_55551519_55597245 | 55571686 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 84 | 0.0119 | 19 | c.219 others(36): Show |
PDCL2 | ENSG00000163440.12 | transcript | ENST00000295645.9 | protein_coding | 3/5 | chr4 | TogoVar | |||||||
PDC_chr1_186438566_186466114 | 186455797 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02135.hp2 HG03490.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0124 |
5 | 205 | 0.0244 | 19 | c.-25 others(36): Show |
PDC | ENSG00000116703.14 | transcript | ENST00000391997.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
PDC_chr1_186438566_186466114 | 186459781 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 399 | 0.0025 | 19 | c.-25 others(36): Show |
PDC | ENSG00000116703.14 | transcript | ENST00000391997.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
PDE10A_chr6_165322289_165668241 | 165495989 | G | GCAGACCA others(12): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 220 | 0.0045 | 19 | c.995 others(38): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 2/21 | chr6 | TogoVar | |||||||
PDE10A_chr6_165322289_165668241 | 165542612 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01257.hp1 NA18948.hp1 NA19074.hp1 |
a0001 | a0001c0001a0001c0033 | a0001c0001t0001a0001c0001t0002a0001c0033t0003 | a0001c0001t0001g0182 a0001c0001t0002g0164 a0001c0033t0003g0216 |
3 | 102 | 0.0294 | 19 | c.994 others(34): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 2/21 | chr6 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177737449 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02698.hp2 |
a0001a0010 | a0001c0001a0010c0019 | a0001c0001t0007a0010c0019t0001 | a0001c0001t0007g0052 a0010c0019t0001g0113 |
2 | 165 | 0.0121 | 19 | c.178 others(38): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 10/19 | chr2 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177957910 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG01099.hp2 others(24): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(22): Show | a0001c0001t0002g0079 a0001c0001t0005g0152 a0001c0001t0008g0084 others(24): Show |
27 | 62 | 0.4355 | 19 | c.107 others(40): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | |||||||
PDE12_chr3_57551274_57571848 | 57554286 | C | CAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0003 | 1 | 385 | 0.0026 | 19 | c.-20 others(30): Show |
PDE12 | ENSG00000174840.9 | transcript | ENST00000311180.9 | protein_coding | 1987 | chr3 | TogoVar | |||||||
PDE1C_chr7_31746179_32075407 | 31875835 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0089 | 1 | 260 | 0.0038 | 19 | c.492 others(36): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 5/17 | chr7 | TogoVar | |||||||
PDE1C_chr7_31746179_32075407 | 31895580 | T | TCTCTCTC others(12): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0052 | 1 | 63 | 0.0159 | 19 | c.129 others(38): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
PDE1C_chr7_31746179_32075407 | 31932765 | C | CTCCATTT others(12): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 260 | 0.0038 | 19 | c.129 others(38): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
PDE3B_chr11_14638804_14877044 | 14728209 | T | TTGGATAA others(12): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 330 | 0.0030 | 19 | c.979 others(38): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 65887247 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 55 | 0.0182 | 19 | c.-70 others(38): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 65887414 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 15 | 0.0667 | 19 | c.-70 others(38): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 65924077 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01255.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0028 a0001c0001t0001g0086 a0001c0001t0002g0029 others(10): Show |
13 | 19 | 0.6842 | 19 | c.281 others(36): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 66090616 | A | ATGTGTGT others(12): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03209.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0087 a0001c0001t0002g0088 a0001c0001t0008g0057 others(1): Show |
4 | 40 | 0.1000 | 19 | c.282 others(40): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | chr1 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59413457 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0028 | 1 | 27 | 0.0370 | 19 | c.456 others(40): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59649904 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03225.hp2 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0052 a0001c0001t0005g0008 |
2 | 28 | 0.0714 | 19 | c.455 others(40): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59649905 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0015 a0001c0001t0015g0066 |
2 | 23 | 0.0870 | 19 | c.455 others(40): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59732899 | T | TTAAGTGA others(12): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01257.hp2 HG01361.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0020 others(19): Show |
22 | 74 | 0.2973 | 19 | c.455 others(40): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149889081 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 198 | 0.0051 | 19 | c.172 others(38): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 13/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149906519 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01496.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0060others(8): Show | a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0010g0080 others(12): Show |
15 | 77 | 0.1948 | 19 | c.106 others(36): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 7/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149920943 | A | AAAGAAAG others(12): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0007 | a0003c0007t0013 | a0003c0007t0013g0315 | 1 | 326 | 0.0031 | 19 | c.933 others(34): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 5/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01891.hp1 others(2): Show |
a0001a0007 | a0001c0001a0007c0022 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0001g0125 a0001c0001t0004g0182 a0001c0001t0010g0116 others(2): Show |
5 | 73 | 0.0685 | 19 | c.858 others(36): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03669.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0130 a0001c0001t0003g0180 |
2 | 70 | 0.0286 | 19 | c.858 others(36): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01081.hp1 NA18979.hp2 NA18980.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0168 a0001c0001t0002g0184 a0001c0001t0006g0169 others(3): Show |
6 | 74 | 0.0811 | 19 | c.858 others(36): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATTT others(12): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02647.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0009a0001c0004t0005 | a0001c0001t0009g0177 a0001c0004t0005g0178 |
2 | 70 | 0.0286 | 19 | c.858 others(36): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 642725 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02970.hp2 HG03225.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0257 a0002c0003t0005g0258 a0002c0003t0005g0260 others(1): Show |
4 | 179 | 0.0223 | 19 | c.711 others(36): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 668430 | G | GCTACCCC others(12): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02922.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0003a0001c0012t0003 | a0001c0001t0003g0006 a0001c0012t0003g0031 a0001c0012t0003g0032 |
4 | 303 | 0.0132 | 19 | c.250 others(36): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 668580 | A | ACTACCCC others(12): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 303 | 0.0033 | 19 | c.250 others(36): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 669534 | C | CCCATGCT others(12): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 298 | 0.0034 | 19 | c.250 others(36): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |