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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCLO_chr7_82749012_83167884 | 83038017 | A | ATATCTTT others(13): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0044 | a0044c0078 | a0044c0078t0002 | a0044c0078t0002g0136 | 1 | 188 | 0.0053 | 20 | c.330 others(41): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83038023 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 188 | 0.0053 | 20 | c.330 others(41): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83050227 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01361.hp2 HG01952.hp2 |
a0001a0003a0010 | a0001c0001a0003c0097a0010c0011 | a0001c0001t0002a0003c0097t0002a0010c0011t0001 | a0001c0001t0002g0013a0003c0097t0002g0175a0010c0011t0001g0164 | 3 | 188 | 0.0160 | 20 | c.330 others(41): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83057317 | C | CATATACA others(13): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0010 | a0001c0010t0007 | a0001c0010t0007g0088 | 1 | 188 | 0.0053 | 20 | c.330 others(41): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83057348 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0008 | a0008c0026 | a0008c0026t0002 | a0008c0026t0002g0066 | 1 | 188 | 0.0053 | 20 | c.330 others(41): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83059357 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG03491.hp2 NA19070.hp2 NA19088.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0007 | a0001c0001t0002g0015a0002c0004t0007g0085a0002c0004t0007g0141 | 3 | 188 | 0.0160 | 20 | c.330 others(41): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83093472 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0018 | a0018c0034 | a0018c0034t0005 | a0018c0034t0005g0059 | 1 | 188 | 0.0053 | 20 | c.330 others(41): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83107712 | T | TATAAAAA others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01361.hp1 others(6): Show |
a0001a0003a0006others(2): Show | a0001c0001a0003c0023a0006c0014others(3): Show | a0001c0001t0004a0001c0001t0005a0003c0023t0005others(4): Show | a0001c0001t0004g0087a0001c0001t0004g0150a0001c0001t0005g0113others(6): Show | 9 | 188 | 0.0479 | 20 | c.330 others(41): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83107713 | A | ATAAAAAG others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00544.hp1 others(112): Show |
a0001a0002a0003others(52): Show | a0001c0001a0001c0003a0001c0010others(72): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(87): Show | a0001c0001t0001g0148a0001c0001t0002g0107a0001c0001t0002g0140others(112): Show | 115 | 188 | 0.6117 | 20 | c.330 others(41): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83134242 | T | TATATATA others(13): Show |
splice_region_variant others(1): Show |
LOW | NA21309.hp2 | a0003 | a0003c0090 | a0003c0090t0036 | a0003c0090t0036g0173 | 1 | 188 | 0.0053 | 20 | c.330 others(33): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCNP_chr3_101569180_101599465 | 101573112 | A | AACACACA others(13): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG01167.hp1 HG01169.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026a0001c0001t0001g0062a0001c0001t0001g0230others(5): Show | 11 | 424 | 0.0259 | 20 | c.-11 others(31): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 1067 | chr3 | TogoVar | ||||||
PCNP_chr3_101569180_101599465 | 101586571 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 424 | 0.0024 | 20 | c.354 others(37): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46365105 | C | CGGGGTTC others(13): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0131 | 1 | 332 | 0.0030 | 20 | c.260 others(39): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 14/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46365408 | A | ATCACTGC others(13): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0066 | a0066c0086 | a0066c0086t0001 | a0066c0086t0001g0068 | 1 | 332 | 0.0030 | 20 | c.261 others(39): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 14/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46365568 | T | TTCACTCC others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp2 others(99): Show |
a0001a0002a0016others(17): Show | a0001c0001a0001c0012a0001c0019others(23): Show | a0001c0001t0001a0001c0012t0001a0001c0019t0001others(23): Show | a0001c0001t0001g0121a0001c0001t0001g0123a0001c0001t0001g0139others(99): Show | 102 | 332 | 0.3072 | 20 | c.261 others(38): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 14/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910148 | T | TCCTCCCC others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0138a0001c0003t0013g0140a0001c0003t0013g0141others(3): Show | 6 | 352 | 0.0171 | 20 | c.153 others(37): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70971115 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0028 | a0001c0028t0003 | a0001c0028t0003g0263 | 1 | 352 | 0.0028 | 20 | c.604 others(37): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 5/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70994396 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG01167.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0154a0001c0001t0001g0187a0001c0001t0001g0204others(4): Show | 7 | 352 | 0.0199 | 20 | c.244 others(39): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 7/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70994396 | G | GATATATG others(13): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03041.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0137a0001c0003t0013g0138a0001c0003t0013g0140others(1): Show | 4 | 352 | 0.0114 | 20 | c.244 others(39): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 7/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70994427 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0010 | a0001c0010t0071 | a0001c0010t0071g0351 | 1 | 352 | 0.0028 | 20 | c.244 others(39): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 7/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71003080 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0144 | 1 | 352 | 0.0028 | 20 | c.263 others(39): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 8/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71098553 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0008 | a0001c0008t0022 | a0001c0008t0022g0105 | 1 | 352 | 0.0028 | 20 | c.559 others(39): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 30/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71119428 | C | CTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01175.hp1 HG01243.hp1 others(22): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(9): Show | a0001c0001t0001g0169a0001c0001t0001g0171a0001c0001t0001g0176others(22): Show | 25 | 352 | 0.0710 | 20 | c.*94 others(31): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 4047 | chr14 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233037502 | T | TTTTCTTT others(13): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02698.hp1 NA19091.hp1 others(1): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0006 | a0001c0001t0001a0003c0003t0002a0005c0006t0002 | a0001c0001t0001g0093a0003c0003t0002g0008a0003c0003t0002g0069others(1): Show | 4 | 146 | 0.0274 | 20 | c.435 others(41): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 25/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233169644 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0021 | a0002c0021t0001 | a0002c0021t0001g0035 | 1 | 146 | 0.0069 | 20 | c.327 others(39): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 17/33 | chr1 | TogoVar | ||||||
PCSK1_chr5_96385333_96438248 | 96412752 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0063 | 1 | 392 | 0.0026 | 20 | c.710 others(35): Show |
PCSK1 | ENSG00000175426.11 | transcript | ENST00000311106.8 | protein_coding | 6/13 | chr5 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17268033 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02148.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0019 | a0001c0001t0005g0092a0001c0001t0009g0003a0001c0001t0019g0086 | 3 | 274 | 0.0110 | 20 | c.282 others(37): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17287431 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0157 | 1 | 274 | 0.0037 | 20 | c.282 others(39): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17333910 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG01175.hp2 others(14): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0129a0001c0001t0001g0193a0001c0001t0002g0041others(14): Show | 17 | 274 | 0.0620 | 20 | c.283 others(39): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17335427 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0038a0001c0001t0041 | a0001c0001t0003g0002a0001c0001t0038g0267a0001c0001t0041g0222 | 3 | 274 | 0.0110 | 20 | c.283 others(39): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17347896 | G | GAAAGAAA others(13): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 274 | 0.0037 | 20 | c.283 others(39): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17391906 | G | GAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00609.hp1 others(45): Show |
a0001 | a0001c0001a0001c0011a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0019a0001c0001t0001g0046a0001c0001t0001g0120others(45): Show | 48 | 274 | 0.1752 | 20 | c.544 others(39): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17433785 | T | TTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0066 | 1 | 274 | 0.0037 | 20 | c.710 others(37): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17480184 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0013 | 1 | 274 | 0.0037 | 20 | c.143 others(39): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17484865 | G | GATAGAAT others(13): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00621.hp1 others(53): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0060a0001c0001t0001g0120a0001c0001t0001g0141others(53): Show | 56 | 274 | 0.2044 | 20 | c.*27 others(31): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 288 | chr20 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17484865 | G | GATAGGAT others(13): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0007 | a0001c0007t0012 | a0001c0007t0012g0268 | 1 | 274 | 0.0037 | 20 | c.*27 others(31): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 288 | chr20 | TogoVar | ||||||
PCSK4_chr19_1476428_1495350 | 1493708 | G | GACACACA others(13): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00621.hp1 others(51): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(29): Show | 54 | 400 | 0.1350 | 20 | c.-33 others(31): Show |
PCSK4 | ENSG00000115257.15 | transcript | ENST00000300954.10 | protein_coding | 3359 | chr19 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 75908875 | T | TTATCTAT others(13): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0025 | 1 | 166 | 0.0060 | 20 | c.192 others(39): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76040377 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0068 | 1 | 166 | 0.0060 | 20 | c.632 others(39): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76046160 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0047 | a0047c0041 | a0047c0041t0024 | a0047c0041t0024g0133 | 1 | 166 | 0.0060 | 20 | c.632 others(39): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76173496 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0014 | a0014c0022 | a0014c0022t0002 | a0014c0022t0002g0109 | 1 | 166 | 0.0060 | 20 | c.175 others(39): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76175256 | G | GGAATCGA others(13): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 166 | 0.0060 | 20 | c.190 others(37): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76273564 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02723.hp1 NA18983.hp1 NA19090.hp1 |
a0001a0015 | a0001c0001a0001c0004a0015c0023 | a0001c0001t0056a0001c0004t0001a0015c0023t0004 | a0001c0001t0056g0028a0001c0004t0001g0022a0015c0023t0004g0005 | 3 | 166 | 0.0181 | 20 | c.314 others(41): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 24/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76351447 | G | GGAAAGAA others(13): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03490.hp1 NA20805.hp2 |
a0002a0021 | a0002c0009a0002c0084a0021c0099 | a0002c0009t0007a0002c0084t0011a0021c0099t0030 | a0002c0009t0007g0039a0002c0084t0011g0092a0021c0099t0030g0140 | 3 | 166 | 0.0181 | 20 | c.506 others(37): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76351499 | A | AGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0015 | a0015c0074 | a0015c0074t0006 | a0015c0074t0006g0037 | 1 | 166 | 0.0060 | 20 | c.506 others(37): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK6_chr15_101298933_101494707 | 101392593 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0108 | 1 | 336 | 0.0030 | 20 | c.120 others(37): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101412712 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0198a0001c0011t0001g0202 | 2 | 336 | 0.0060 | 20 | c.824 others(39): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 6/21 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101454980 | G | GAATAAAT others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0003 | a0003c0024 | a0003c0024t0004 | a0003c0024t0004g0315 | 1 | 336 | 0.0030 | 20 | c.298 others(39): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 1/21 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101454980 | G | GAATGAAT others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02723.hp2 HG02809.hp1 |
a0001a0002 | a0001c0002a0001c0003a0002c0017 | a0001c0002t0003a0001c0003t0001a0002c0017t0001 | a0001c0002t0003g0243a0001c0003t0001g0092a0002c0017t0001g0030 | 3 | 336 | 0.0089 | 20 | c.298 others(39): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 1/21 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101471344 | C | CGTCCACC others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(76): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(44): Show | a0001c0001t0001g0173a0001c0001t0001g0184a0001c0001t0001g0200others(76): Show | 79 | 336 | 0.2351 | 20 | c.297 others(39): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 1/21 | chr15 | TogoVar |