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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCSK5_chr9_75885673_76367975 | 76351533 | G | GAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03130.hp2 NA18906.hp1 |
a0001a0018 | a0001c0013a0018c0069a0018c0089 | a0001c0013t0023a0018c0069t0003a0018c0089t0003 | a0001c0013t0023g0137 a0018c0069t0003g0063 a0018c0089t0003g0099 |
3 | 43 | 0.0698 | 9 | c.506 others(26): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101299836 | A | ACTCTCAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01346.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0002a0001c0007t0002 | a0001c0003t0002g0092 a0001c0003t0002g0114 a0001c0007t0002g0091 |
3 | 334 | 0.0090 | 9 | c.*54 others(20): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 4096 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101316910 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00558.hp1 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(22): Show | a0001c0001t0001g0164 a0001c0001t0001g0214 a0001c0001t0001g0225 others(32): Show |
35 | 181 | 0.1934 | 9 | c.256 others(28): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 19/21 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101342129 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00733.hp1 others(20): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0177 a0001c0001t0001g0207 a0001c0001t0001g0208 others(20): Show |
23 | 96 | 0.2396 | 9 | c.185 others(30): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 13/21 | chr15 | TogoVar | |||||||
PCSK7_chr11_117199337_117237073 | 117215362 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG01074.hp1 others(27): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0003t0004a0001c0003t0007others(1): Show | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0016 others(24): Show |
30 | 351 | 0.0855 | 9 | c.153 others(28): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | |||||||
PCSK7_chr11_117199337_117237073 | 117215406 | A | ATATACTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG01074.hp1 others(16): Show |
a0001 | a0001c0003a0001c0007 | a0001c0003t0002a0001c0003t0004a0001c0003t0007others(1): Show | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0016 others(13): Show |
19 | 391 | 0.0486 | 9 | c.153 others(28): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | |||||||
PCYOX1_chr2_70253137_70286185 | 70283096 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 HG01361.hp2 HG01975.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0003 a0001c0001t0004g0089 a0001c0001t0004g0132 others(3): Show |
11 | 256 | 0.0430 | 9 | c.*57 others(20): Show |
PCYOX1 | ENSG00000116005.12 | transcript | ENST00000433351.7 | protein_coding | 1912 | chr2 | TogoVar | |||||||
PCYOX1_chr2_70253137_70286185 | 70283122 | A | AAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG02809.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0024a0002c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0107 others(4): Show |
10 | 213 | 0.0469 | 9 | c.*57 others(20): Show |
PCYOX1 | ENSG00000116005.12 | transcript | ENST00000433351.7 | protein_coding | 1938 | chr2 | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24571500 | T | TATCATCA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02056.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(18): Show | a0001c0001t0001g0067 a0001c0001t0001g0106 a0001c0001t0005g0199 others(27): Show |
30 | 56 | 0.5357 | 9 | c.897 others(26): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 7/7 | chrX | TogoVar | |||||||
PC_chr11_66843420_66963383 | 66865220 | C | CCCCCAGC others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02615.hp1 HG02647.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0001 | a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 others(1): Show |
4 | 272 | 0.0147 | 9 | c.118 others(26): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 11/22 | chr11 | TogoVar | |||||||
PC_chr11_66843420_66963383 | 66889902 | A | ATTTATGA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00621.hp2 others(55): Show |
a0001a0002a0005 | a0001c0001a0001c0011a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0011t0001others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(55): Show |
58 | 272 | 0.2132 | 9 | c.1-1 others(24): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 3/22 | chr11 | TogoVar | |||||||
PC_chr11_66843420_66963383 | 66955772 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01884.hp1 others(17): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0012 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 others(17): Show |
20 | 272 | 0.0735 | 9 | c.-22 others(28): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 1/22 | chr11 | TogoVar | |||||||
PDCD1_chr2_241844884_241863894 | 241850723 | G | GGCAGCAG others(2): Show |
3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0037 a0001c0001t0007g0063 a0001c0001t0007g0067 others(1): Show |
5 | 395 | 0.0127 | 9 | c.*32 others(18): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 5/5 | 334 | chr2 | TogoVar | ||||||
PDCD5_chr19_32576190_32592453 | 32592293 | A | AGGCTTCT others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00609.hp2 others(14): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 a0001c0003t0001g0041 |
17 | 420 | 0.0405 | 9 | c.*49 others(20): Show |
PDCD5 | ENSG00000105185.12 | transcript | ENST00000590247.7 | protein_coding | 4841 | chr19 | TogoVar | |||||||
PDCD7_chr15_65112379_65138808 | 65135935 | T | TTTGTTGT others(2): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG03139.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0034 a0001c0001t0001g0059 a0001c0005t0001g0123 others(1): Show |
4 | 55 | 0.0727 | 9 | c.-21 others(20): Show |
PDCD7 | ENSG00000090470.15 | transcript | ENST00000204549.9 | protein_coding | 2128 | chr15 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177979611 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01071.hp1 HG01081.hp1 others(36): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(25): Show | a0001c0001t0002g0089 a0001c0001t0005g0085 a0001c0001t0008g0084 others(36): Show |
39 | 81 | 0.4815 | 9 | c.107 others(30): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | |||||||
PDE12_chr3_57551274_57571848 | 57558488 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0046a0001c0001t0047 | a0001c0001t0017g0006 a0001c0001t0046g0006 a0001c0001t0047g0006 |
5 | 253 | 0.0198 | 9 | c.130 others(26): Show |
PDE12 | ENSG00000174840.9 | transcript | ENST00000311180.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PDE1A_chr2_182135041_182432036 | 182384458 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01928.hp2 HG02148.hp1 others(14): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0172 a0001c0001t0002g0076 a0001c0001t0002g0077 others(14): Show |
17 | 78 | 0.2179 | 9 | c.53+ others(26): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
PDE1C_chr7_31746179_32075407 | 31851101 | T | TACACACA others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02300.hp2 HG02486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0006t0001 | a0001c0001t0001g0128 a0001c0001t0001g0258 a0001c0001t0003g0067 others(1): Show |
4 | 5 | 0.8000 | 9 | c.751 others(24): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 7/17 | chr7 | TogoVar | |||||||
PDE1C_chr7_31746179_32075407 | 31998010 | T | TTTATTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00609.hp2 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0099 others(47): Show |
50 | 258 | 0.1938 | 9 | c.128 others(28): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
PDE1C_chr7_31746179_32075407 | 32005578 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02145.hp2 HG02486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0071 a0001c0001t0001g0125 a0001c0001t0003g0115 others(3): Show |
6 | 161 | 0.0373 | 9 | c.128 others(28): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
PDE2A_chr11_72571141_72679422 | 72573442 | C | CGTCCCCG others(2): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001a0001c0013a0001c0015 | a0001c0001t0001a0001c0001t0009a0001c0013t0003others(1): Show | a0001c0001t0001g0051 a0001c0001t0001g0077 a0001c0001t0001g0078 others(3): Show |
6 | 290 | 0.0207 | 9 | c.*39 others(20): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 2698 | chr11 | TogoVar | |||||||
PDE2A_chr11_72571141_72679422 | 72664364 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02559.hp2 HG02602.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0242 a0001c0001t0001g0253 a0001c0002t0001g0203 others(8): Show |
11 | 75 | 0.1467 | 9 | c.71+ others(24): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 1/30 | chr11 | TogoVar | |||||||
PDE3A_chr12_20363537_20693583 | 20481764 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01168.hp1 HG01169.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0012a0001c0001t0041a0001c0001t0084others(15): Show | a0001c0001t0012g0147 a0001c0001t0041g0175 a0001c0001t0084g0089 others(16): Show |
19 | 76 | 0.2500 | 9 | c.961 others(28): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20558691 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00741.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0028a0001c0001t0030others(10): Show | a0001c0001t0002g0053 a0001c0001t0002g0081 a0001c0001t0002g0152 others(13): Show |
16 | 112 | 0.1429 | 9 | c.101 others(28): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20598174 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02647.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0081a0001c0001t0147 | a0001c0001t0001g0116 a0001c0001t0081g0167 a0001c0001t0147g0041 |
3 | 194 | 0.0155 | 9 | c.101 others(30): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 65895932 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02559.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0071 a0001c0001t0005g0064 a0001c0001t0006g0033 others(1): Show |
4 | 15 | 0.2667 | 9 | c.-70 others(28): 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(2): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02165.hp2 HG02559.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0055 a0001c0001t0001g0118 a0001c0001t0002g0080 others(7): Show |
10 | 16 | 0.6250 | 9 | c.281 others(26): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 66090616 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01981.hp1 HG02145.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0066 others(4): Show |
7 | 43 | 0.1628 | 9 | c.282 others(30): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | chr1 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 58980685 | T | TGGGGGGA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01952.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0013 | a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0072 others(3): Show |
6 | 74 | 0.0811 | 9 | c.155 others(28): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 11/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59079666 | T | TTAATAAT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02896.hp2 NA18966.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(1): Show | a0001c0001t0001g0003 a0001c0001t0010g0035 a0001c0001t0011g0017 others(1): Show |
4 | 54 | 0.0741 | 9 | c.809 others(28): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 5/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59081518 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01261.hp2 HG01884.hp2 others(15): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0037 others(15): Show |
18 | 51 | 0.3529 | 9 | c.809 others(28): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 5/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59081518 | T | TTAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0055 |
2 | 35 | 0.0571 | 9 | c.809 others(28): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 5/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59133983 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02895.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0021 | a0001c0001t0003g0044 a0001c0001t0003g0072 a0001c0001t0004g0031 others(1): Show |
4 | 41 | 0.0976 | 9 | c.808 others(28): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 5/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59156320 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02717.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0002g0021 a0001c0001t0004g0027 a0001c0001t0006g0069 others(1): Show |
4 | 30 | 0.1333 | 9 | c.808 others(28): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 5/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59821237 | G | GCAACAAC others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010 | a0001c0001t0006g0067 a0001c0001t0010g0068 |
2 | 37 | 0.0541 | 9 | c.455 others(28): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59872300 | C | CACACACA others(2): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01515.hp1 HG01517.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0002g0021 others(1): Show |
4 | 48 | 0.0833 | 9 | c.455 others(28): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE5A_chr4_119489403_119633804 | 119592456 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01361.hp1 HG01978.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0011 | a0001c0002t0002g0064 a0001c0002t0002g0073 a0001c0002t0002g0118 others(7): Show |
10 | 65 | 0.1538 | 9 | c.831 others(26): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 3/20 | chr4 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149906519 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02572.hp1 others(4): Show |
a0001a0003a0010others(1): Show | a0001c0005a0003c0007a0010c0028others(1): Show | a0001c0005t0041a0003c0007t0001a0003c0007t0013others(2): Show | a0001c0005t0041g0319 a0003c0007t0001g0313 a0003c0007t0001g0314 others(4): Show |
7 | 69 | 0.1014 | 9 | c.106 others(26): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 7/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149947611 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG01928.hp1 HG02027.hp1 others(9): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0033others(4): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0001others(8): Show | a0001c0001t0002g0021 a0001c0001t0002g0068 a0001c0001t0006g0037 others(9): Show |
12 | 207 | 0.0580 | 9 | c.-29 others(20): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 2819 | chr5 | TogoVar | |||||||
PDE6C_chr10_93607537_93671010 | 93611339 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp2 others(41): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(8): Show | a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0050 others(41): Show |
44 | 201 | 0.2189 | 9 | c.-13 others(20): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 1197 | chr10 | TogoVar | |||||||
PDE6C_chr10_93607537_93671010 | 93636395 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02630.hp1 HG02717.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0079 a0001c0001t0001g0110 a0001c0001t0001g0121 others(3): Show |
6 | 379 | 0.0158 | 9 | c.141 others(26): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65841963 | G | GGCCGCCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0084a0001c0001t0085others(2): Show | a0001c0001t0035g0240 a0001c0001t0035g0241 a0001c0001t0084g0239 others(3): Show |
6 | 133 | 0.0451 | 9 | c.-46 others(18): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 1/13 | 456 | chr8 | TogoVar | ||||||
PDE8A_chr15_84976856_85144142 | 85097126 | T | TGTCCTGT others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG01891.hp2 others(24): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0007c0008t0001 | a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 others(24): Show |
27 | 342 | 0.0789 | 9 | c.853 others(24): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PDE8A_chr15_84976856_85144142 | 85119468 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02109.hp2 HG02148.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0104 a0001c0001t0001g0170 others(3): Show |
6 | 70 | 0.0857 | 9 | c.173 others(28): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PDE8B_chr5_77205680_77433256 | 77372201 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02723.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0012 | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(1): Show | a0001c0001t0001g0025 a0001c0001t0007g0029 a0001c0001t0007g0032 others(2): Show |
5 | 232 | 0.0216 | 9 | c.116 others(30): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42653537 | G | GAAGGGGG others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(101): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(9): Show | a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0040 others(101): Show |
104 | 314 | 0.3312 | 9 | c.-27 others(18): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 83 | chr21 | TogoVar | |||||||
PDE9A_chr21_42648621_42780509 | 42653539 | A | AGGGGGGA others(2): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG02280.hp2 HG02486.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0165 a0001c0001t0001g0273 others(5): Show |
8 | 93 | 0.0860 | 9 | c.-27 others(18): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 81 | chr21 | TogoVar | |||||||
PDE9A_chr21_42648621_42780509 | 42726620 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01884.hp2 HG01978.hp1 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0120 a0001c0001t0001g0161 others(7): Show |
11 | 294 | 0.0374 | 9 | c.263 others(26): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42726622 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0069 a0001c0001t0001g0071 others(20): Show |
23 | 262 | 0.0878 | 9 | c.263 others(26): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |