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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCED1A_chr20_2830314_2845655 | 2840178 | CCGCGCAT others(13): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 436 | 0.0023 | -20 | c.-22 others(33): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
PCED1B_chr12_47074621_47241660 | 47089474 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00639.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 others(33): Show |
36 | 322 | 0.1118 | -20 | c.-60 others(39): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 701973 | CAAAGAAA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 NA18612.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0005others(2): Show | a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0003g0053 others(3): Show |
7 | 366 | 0.0191 | -20 | c.-41 others(31): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3858 | chr4 | TogoVar | |||||||
PCGF5_chr10_91215663_91289337 | 91246957 | GGATAGAT others(13): Show |
G | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 318 | 0.0031 | -20 | c.210 others(37): Show |
PCGF5 | ENSG00000180628.15 | transcript | ENST00000336126.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCGF5_chr10_91215663_91289337 | 91246965 | GGATAGAT others(13): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG01243.hp2 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0244 |
3 | 318 | 0.0094 | -20 | c.210 others(37): Show |
PCGF5 | ENSG00000180628.15 | transcript | ENST00000336126.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCGF5_chr10_91215663_91289337 | 91249371 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG01255.hp1 HG02074.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0001g0066 others(10): Show |
15 | 318 | 0.0472 | -20 | c.325 others(35): Show |
PCGF5 | ENSG00000180628.15 | transcript | ENST00000336126.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCGF6_chr10_103297796_103356140 | 103315997 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 372 | 0.0027 | -20 | c.910 others(37): Show |
PCGF6 | ENSG00000156374.16 | transcript | ENST00000369847.4 | protein_coding | 8/9 | chr10 | TogoVar | |||||||
PCGF6_chr10_103297796_103356140 | 103339806 | AAAAAACA others(13): Show |
A | intron_variant | MODIFIER | NA18971.hp1 NA18982.hp1 NA18984.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0020 a0002c0002t0004g0024 a0002c0002t0004g0031 others(1): Show |
4 | 372 | 0.0108 | -20 | c.782 others(37): Show |
PCGF6 | ENSG00000156374.16 | transcript | ENST00000369847.4 | protein_coding | 6/9 | chr10 | TogoVar | |||||||
PCIF1_chr20_45929683_45953020 | 45947808 | CTCGGGCC others(13): Show |
C | 3_prime_UTR_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0097 | 1 | 422 | 0.0024 | -20 | c.*54 others(27): Show |
PCIF1 | ENSG00000100982.12 | transcript | ENST00000372409.8 | protein_coding | 17/17 | 54 | chr20 | TogoVar | ||||||
PCLAF_chr15_64359304_64386441 | 64377484 | AAAAAATA others(13): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 298 | 0.0034 | -20 | c.128 others(35): Show |
PCLAF | ENSG00000166803.14 | transcript | ENST00000300035.9 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
PCLAF_chr15_64359304_64386441 | 64377488 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG03471.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0029 | a0001c0001t0002g0056 a0001c0001t0003g0281 a0001c0001t0029g0089 |
3 | 298 | 0.0101 | -20 | c.128 others(35): Show |
PCLAF | ENSG00000166803.14 | transcript | ENST00000300035.9 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83057344 | ATATATTT others(13): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0048 | a0048c0099 | a0048c0099t0003 | a0048c0099t0003g0081 | 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 | 83167523 | GTAGATAG others(13): Show |
G | upstream_gene_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0019 | 1 | 188 | 0.0053 | -20 | c.-49 others(31): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 4640 | chr7 | TogoVar | |||||||
PCM1_chr8_17917988_18034948 | 18001995 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00639.hp1 others(21): Show |
a0003a0011a0016 | a0003c0003a0003c0012a0003c0044others(2): Show | a0003c0003t0002a0003c0003t0007a0003c0003t0009others(9): Show | a0003c0003t0002g0003 a0003c0003t0002g0264 a0003c0003t0007g0219 others(21): Show |
24 | 368 | 0.0652 | -20 | c.482 others(39): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 29/38 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PCMTD1_chr8_51812583_51904036 | 51862048 | TTATAGTA others(13): Show |
T | intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0104 | 1 | 336 | 0.0030 | -20 | c.-95 others(35): Show |
PCMTD1 | ENSG00000168300.14 | transcript | ENST00000522514.6 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
PCMTD1_chr8_51812583_51904036 | 51867476 | GGTGTGTG others(13): Show |
G | intron_variant | MODIFIER | HG01257.hp2 HG01358.hp1 HG01433.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0009a0001c0001t0010a0001c0001t0024others(1): Show | a0001c0001t0009g0226 a0001c0001t0009g0228 a0001c0001t0009g0230 others(8): Show |
12 | 336 | 0.0357 | -20 | c.-95 others(37): Show |
PCMTD1 | ENSG00000168300.14 | transcript | ENST00000522514.6 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
PCNA_chr20_5109953_5124958 | 5111607 | TAAAAAAA others(13): Show |
T | downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 390 | 0.0026 | -20 | c.*36 others(31): Show |
PCNA | ENSG00000132646.11 | transcript | ENST00000379143.10 | protein_coding | 3345 | chr20 | TogoVar | |||||||
PCNT_chr21_46319156_46450769 | 46353715 | GGTGTGTG others(13): Show |
G | intron_variant | MODIFIER | NA18985.hp2 | a0018 | a0018c0050 | a0018c0050t0001 | a0018c0050t0001g0185 | 1 | 332 | 0.0030 | -20 | c.168 others(37): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46365279 | AGGGTTCT others(13): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp2 others(103): Show |
a0001a0002a0015others(17): Show | a0001c0001a0001c0012a0001c0019others(23): Show | a0001c0001t0001a0001c0012t0001a0001c0019t0001others(23): Show | a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0139 others(103): Show |
106 | 332 | 0.3193 | -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 | 46365427 | ATTCACTG others(13): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0055 | a0055c0041 | a0055c0041t0001 | a0055c0041t0001g0159 | 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 | 46380145 | ATTTTTTT others(13): Show |
A | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0311 | 1 | 332 | 0.0030 | -20 | c.316 others(39): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46381196 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00621.hp1 others(62): Show |
a0003a0004a0010others(10): Show | a0003c0003a0003c0080a0003c0084others(13): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0005others(16): Show | a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0132 others(62): Show |
65 | 332 | 0.1958 | -20 | c.316 others(37): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70994411 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 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 | 71006092 | CGTGTGTG others(13): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0006 | a0006c0009 | a0006c0009t0008 | a0006c0009t0008g0214 | 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 | 71006103 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00673.hp2 HG01243.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(5): Show | a0001c0001t0001g0159 a0001c0001t0001g0176 a0001c0001t0001g0217 others(11): Show |
14 | 352 | 0.0398 | -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 | 71041780 | CTACTATA others(13): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00639.hp2 others(50): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0013a0005c0012others(2): Show | a0001c0001t0002a0001c0001t0017a0001c0001t0020others(14): Show | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0010 others(50): Show |
53 | 352 | 0.1506 | -20 | c.386 others(39): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 19/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233028712 | CAATTTTT others(13): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0002 | 1 | 146 | 0.0069 | -20 | c.435 others(39): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 25/33 | chr1 | TogoVar | |||||||
PCNX2_chr1_232978435_233300725 | 233067365 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG03195.hp2 others(2): Show |
a0001a0014a0020others(1): Show | a0001c0001a0001c0007a0014c0038others(2): Show | a0001c0001t0023a0001c0007t0001a0014c0038t0024others(2): Show | a0001c0001t0023g0144 a0001c0007t0001g0002 a0014c0038t0024g0146 others(2): Show |
5 | 146 | 0.0343 | -20 | c.407 others(41): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 23/33 | chr1 | TogoVar | |||||||
PCNX2_chr1_232978435_233300725 | 233130465 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG01952.hp1 HG02015.hp2 others(4): Show |
a0001a0022 | a0001c0007a0001c0009a0022c0025 | a0001c0007t0001a0001c0009t0001a0022c0025t0001 | a0001c0007t0001g0117 a0001c0009t0001g0074 a0001c0009t0001g0078 others(4): Show |
7 | 146 | 0.0480 | -20 | c.383 others(39): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 21/33 | chr1 | TogoVar | |||||||
PCNX2_chr1_232978435_233300725 | 233246136 | GAATGCCC others(13): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01261.hp2 others(8): Show |
a0001a0002a0006others(2): Show | a0001c0007a0001c0030a0002c0011others(3): Show | a0001c0007t0001a0001c0007t0003a0001c0030t0002others(5): Show | a0001c0007t0001g0002 a0001c0007t0001g0019 a0001c0007t0001g0054 others(8): Show |
11 | 146 | 0.0753 | -20 | c.222 others(39): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 8/33 | chr1 | TogoVar | |||||||
PCSK1_chr5_96385333_96438248 | 96425008 | AAAAGAAA others(13): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00673.hp1 HG01361.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0001g0307 a0001c0001t0004g0242 a0001c0001t0006g0110 others(23): Show |
26 | 392 | 0.0663 | -20 | c.396 others(35): Show |
PCSK1 | ENSG00000175426.11 | transcript | ENST00000311106.8 | protein_coding | 3/13 | chr5 | TogoVar | |||||||
PCSK2_chr20_17222040_17489578 | 17347787 | CGAAAGAA others(13): Show |
C | intron_variant | MODIFIER | HG02818.hp1 NA18982.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0265 a0001c0001t0003g0273 a0001c0001t0007g0012 |
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 | 17347872 | AAAAGAAA others(13): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG01109.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0019 a0001c0001t0001g0060 a0001c0001t0001g0148 others(21): Show |
24 | 274 | 0.0876 | -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 | 17348050 | GGAAAGAA others(13): Show |
G | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0008 | a0001c0008t0006 | a0001c0008t0006g0263 | 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 | 17378624 | GATGGATG others(13): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG03130.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0006a0001c0009t0020 | a0001c0001t0006g0078 a0001c0009t0020g0190 |
2 | 274 | 0.0073 | -20 | c.543 others(37): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 75908921 | ATCTCTCT others(13): Show |
A | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0155 | 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 | 75994396 | CTTTCTTT others(13): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01168.hp1 others(25): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0080others(19): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0027others(25): Show | a0001c0001t0002g0077 a0001c0001t0003g0156 a0001c0001t0027g0018 others(25): Show |
28 | 166 | 0.1687 | -20 | c.411 others(37): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 75994400 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02895.hp2 HG02897.hp1 |
a0009a0023 | a0009c0018a0023c0024 | a0009c0018t0002a0023c0024t0004 | a0009c0018t0002g0067 a0023c0024t0004g0071 a0023c0024t0004g0072 |
3 | 166 | 0.0181 | -20 | c.411 others(37): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 76040365 | CTCTCTCT others(13): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01981.hp2 HG02559.hp1 others(2): Show |
a0002a0007a0013others(2): Show | a0002c0016a0007c0076a0013c0085others(2): Show | a0002c0016t0020a0007c0076t0001a0013c0085t0032others(2): Show | a0002c0016t0020g0057 a0007c0076t0001g0029 a0013c0085t0032g0105 others(2): Show |
5 | 166 | 0.0301 | -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 | 76167833 | CTTTAGTT others(13): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG03195.hp2 |
a0004a0005 | a0004c0058a0005c0066 | a0004c0058t0012a0005c0066t0002 | a0004c0058t0012g0054 a0005c0066t0002g0016 |
2 | 166 | 0.0121 | -20 | c.162 others(39): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 76175222 | AAATGGAA others(13): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG01496.hp1 HG02630.hp1 |
a0004a0008a0014 | a0004c0026a0008c0060a0014c0032 | a0004c0026t0052a0008c0060t0043a0014c0032t0009 | a0004c0026t0052g0089 a0008c0060t0043g0166 a0014c0032t0009g0127 |
3 | 166 | 0.0181 | -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 | 76351447 | GGAAAGAA others(13): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0048 | a0048c0083 | a0048c0083t0020 | a0048c0083t0020g0076 | 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 | ||||||
PCSK5_chr9_75885673_76367975 | 76351513 | AAAGAAAG others(13): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0004 | a0004c0006 | a0004c0006t0012 | a0004c0006t0012g0143 a0004c0006t0012g0144 |
2 | 166 | 0.0121 | -20 | c.506 others(37): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24593441 | CTTTCTTT others(13): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG01981.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(9): Show | a0001c0001t0001g0127 a0001c0001t0004g0195 a0001c0001t0010g0215 others(10): Show |
13 | 260 | 0.0500 | -20 | c.335 others(37): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 3/7 | chrX | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24651472 | AATATATA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0207 | 1 | 260 | 0.0039 | -20 | c.-43 others(31): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 4126 | chrX | TogoVar | |||||||
PDCD10_chr3_167678298_167739892 | 167725763 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG02451.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0033 a0001c0001t0003g0149 |
2 | 284 | 0.0070 | -20 | c.-11 others(39): Show |
PDCD10 | ENSG00000114209.15 | transcript | ENST00000392750.7 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 317800 | ACACCTCC others(13): Show |
A | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01099.hp2 others(45): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0261 a0001c0001t0002g0008 a0001c0001t0002g0065 others(43): Show |
48 | 360 | 0.1333 | -20 | c.*32 others(31): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 2827 | chr5 | TogoVar | |||||||
PDE10A_chr6_165322289_165668241 | 165459506 | TAGATAGA others(13): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01433.hp1 HG01515.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0007others(11): Show | a0001c0001t0002g0013 a0001c0002t0001g0179 a0001c0003t0007g0093 others(12): Show |
15 | 222 | 0.0676 | -20 | c.102 others(39): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 3/21 | chr6 | TogoVar | |||||||
PDE10A_chr6_165322289_165668241 | 165459522 | TAGACAGA others(13): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp1 HG02055.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(6): Show | a0001c0001t0001g0185 a0001c0001t0002g0122 a0001c0001t0015g0035 others(7): Show |
10 | 222 | 0.0451 | -20 | c.102 others(39): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 3/21 | chr6 | TogoVar | |||||||
PDE10A_chr6_165322289_165668241 | 165608072 | ATGTATAT others(13): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01167.hp1 HG01884.hp1 others(4): Show |
a0001a0002 | a0001c0006a0001c0015a0001c0031others(1): Show | a0001c0006t0001a0001c0006t0006a0001c0015t0005others(3): Show | a0001c0006t0001g0213 a0001c0006t0006g0211 a0001c0015t0005g0209 others(4): Show |
7 | 222 | 0.0315 | -20 | c.865 others(39): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 1/21 | chr6 | TogoVar |