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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCNT_chr21_46319156_46450769 | 46380145 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00735.hp1 others(58): Show |
a0002a0003a0006others(10): Show | a0002c0002a0002c0018a0002c0032others(15): Show | a0002c0002t0001a0002c0018t0001a0002c0032t0001others(16): Show | a0002c0002t0001g0035a0002c0002t0001g0036a0002c0002t0001g0037others(58): Show | 61 | 332 | 0.1837 | -12 | c.316 others(31): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46381196 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01099.hp2 HG01106.hp1 others(23): Show |
a0001a0007a0009others(6): Show | a0001c0019a0007c0005a0009c0009others(6): Show | a0001c0019t0001a0007c0005t0001a0009c0009t0001others(6): Show | a0001c0019t0001g0262a0007c0005t0001g0024a0007c0005t0001g0025others(23): Show | 26 | 332 | 0.0783 | -12 | c.316 others(29): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46424699 | CCCTGCTC others(5): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01515.hp2 HG02083.hp2 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(4): Show | a0001c0001t0001g0239a0002c0002t0001g0066a0002c0002t0001g0193others(8): Show | 11 | 332 | 0.0331 | -12 | c.718 others(31): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 32/46 | chr21 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70907817 | GCGGCGGC others(5): Show |
G | 5_prime_UTR_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0195 | 1 | 352 | 0.0028 | -12 | c.-22 others(19): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/36 | 11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
PCNX1_chr14_70902459_71120382 | 70910064 | CCCTCCTC others(5): Show |
C | intron_variant | MODIFIER | NA18522.hp2 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0070 | a0001c0002t0011g0255a0001c0002t0070g0328 | 2 | 352 | 0.0057 | -12 | c.153 others(29): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910145 | CCCTCCTC others(5): Show |
C | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0036 | 1 | 352 | 0.0028 | -12 | c.153 others(29): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910154 | CCCTCCTC others(5): Show |
C | intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0315 | 1 | 352 | 0.0028 | -12 | c.153 others(29): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70994396 | GATATATA others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00735.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0005others(1): Show | a0001c0001t0001g0227a0001c0001t0001g0229a0001c0001t0001g0231others(9): Show | 13 | 352 | 0.0369 | -12 | c.244 others(31): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 7/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70994419 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG01106.hp2 others(27): Show |
a0001a0012 | a0001c0001a0012c0021 | a0001c0001t0002a0001c0001t0017a0001c0001t0020others(5): Show | a0001c0001t0002g0004a0001c0001t0002g0013a0001c0001t0002g0014others(27): Show | 30 | 352 | 0.0852 | -12 | c.244 others(31): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 7/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71006103 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01167.hp1 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(20): Show | a0001c0001t0001g0183a0001c0001t0001g0187a0001c0001t0001g0204others(32): Show | 35 | 352 | 0.0994 | -12 | c.263 others(31): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 8/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71051168 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02602.hp2 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0127a0001c0001t0028g0128 | 2 | 352 | 0.0057 | -12 | c.444 others(29): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 23/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71061961 | TTTTAGCA others(5): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG03486.hp1 |
a0001 | a0001c0013 | a0001c0013t0031 | a0001c0013t0031g0348a0001c0013t0031g0349 | 2 | 352 | 0.0057 | -12 | c.485 others(31): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 26/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX2_chr1_232978435_233300725 | 232984108 | ATTTTTTT others(5): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02922.hp2 | a0004 | a0004c0005 | a0004c0005t0020 | a0004c0005t0020g0039 | 1 | 146 | 0.0069 | -12 | c.*18 others(21): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 34/34 | 184 | chr1 | TogoVar | |||||
PCNX2_chr1_232978435_233300725 | 233067365 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG02258.hp1 HG02486.hp1 others(4): Show |
a0001a0002a0004others(3): Show | a0001c0004a0002c0013a0004c0035others(3): Show | a0001c0004t0001a0002c0013t0001a0002c0013t0005others(4): Show | a0001c0004t0001g0024a0002c0013t0001g0122a0002c0013t0005g0053others(4): Show | 7 | 146 | 0.0480 | -12 | c.407 others(33): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 23/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233119592 | AAAAAACA others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp2 NA19011.hp1 NA19091.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0087a0002c0002t0001g0140a0002c0002t0001g0141 | 3 | 146 | 0.0206 | -12 | c.383 others(33): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 21/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233126505 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 146 | 0.0069 | -12 | c.383 others(31): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 21/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233137295 | AGTGTGAG others(5): Show |
A | intron_variant | MODIFIER | HG01952.hp1 HG02015.hp2 HG04115.hp2 others(3): Show |
a0001a0017 | a0001c0009a0017c0025 | a0001c0009t0001a0017c0025t0001 | a0001c0009t0001g0074a0001c0009t0001g0078a0001c0009t0001g0080others(3): Show | 6 | 146 | 0.0411 | -12 | c.366 others(31): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 20/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233185084 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG02622.hp1 HG03130.hp2 others(5): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0007a0004c0005others(4): Show | a0001c0001t0001a0001c0007t0003a0004c0005t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0041a0001c0007t0003g0114others(5): Show | 8 | 146 | 0.0548 | -12 | c.306 others(31): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 15/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233233424 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG01358.hp1 | a0009 | a0009c0012 | a0009c0012t0002 | a0009c0012t0002g0064 | 1 | 146 | 0.0069 | -12 | c.235 others(31): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 9/33 | chr1 | TogoVar | ||||||
PCNX3_chr11_65610776_65642439 | 65636776 | ACCTCAGC others(5): Show |
A | disruptive_inframe_deletion | MODERATE | HG02258.hp1 HG02280.hp2 HG02572.hp1 others(4): Show |
a0004a0016 | a0004c0007a0016c0041 | a0004c0007t0006a0016c0041t0001 | a0004c0007t0006g0012a0004c0007t0006g0059a0016c0041t0001g0002 | 7 | 396 | 0.0177 | -12 | c.592 others(21): Show |
p.Leu others(15): Show |
PCNX3 | ENSG00000197136.5 | transcript | ENST00000355703.4 | protein_coding | 35/35 | 6460/7102 | 5924/6105 | 1975/2034 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
PCOLCE_chr7_100597363_100613175 | 100609222 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 332 | 0.0030 | -12 | c.*11 others(23): Show |
PCOLCE | ENSG00000106333.13 | transcript | ENST00000223061.6 | protein_coding | 1048 | chr7 | TogoVar | ||||||
PCP4L1_chr1_161253745_161290450 | 161263237 | GTTTTTGT others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00544.hp1 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0009others(47): Show | 66 | 402 | 0.1642 | -12 | c.9+4 others(25): Show |
PCP4L1 | ENSG00000248485.2 | transcript | ENST00000504449.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PCP4_chr21_39862438_39934392 | 39880130 | GTATCTAT others(5): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01071.hp2 HG01934.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0006a0001c0001t0001g0016a0001c0001t0001g0030others(16): Show | 19 | 428 | 0.0444 | -12 | c.9+1 others(27): Show |
PCP4 | ENSG00000183036.11 | transcript | ENST00000328619.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCP4_chr21_39862438_39934392 | 39880182 | CTATATCT others(5): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0411a0001c0001t0001g0414 | 2 | 428 | 0.0047 | -12 | c.9+1 others(27): Show |
PCP4 | ENSG00000183036.11 | transcript | ENST00000328619.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCP4_chr21_39862438_39934392 | 39880186 | ATCTATCT others(5): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02976.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0209a0001c0001t0001g0211a0001c0001t0002g0210 | 3 | 428 | 0.0070 | -12 | c.9+1 others(27): Show |
PCP4 | ENSG00000183036.11 | transcript | ENST00000328619.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCP4_chr21_39862438_39934392 | 39927279 | GATCTATC others(5): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 428 | 0.0023 | -12 | c.62- others(27): Show |
PCP4 | ENSG00000183036.11 | transcript | ENST00000328619.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCP4_chr21_39862438_39934392 | 39927318 | CTATCATC others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02683.hp2 HG03710.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0046a0001c0001t0001g0077others(1): Show | 4 | 428 | 0.0094 | -12 | c.62- others(27): Show |
PCP4 | ENSG00000183036.11 | transcript | ENST00000328619.10 | protein_coding | 2/2 | chr21 | TogoVar | ||||||
PCP4_chr21_39862438_39934392 | 39927361 | CTATCTAT others(5): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG03041.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079a0001c0001t0001g0095a0001c0001t0001g0264 | 3 | 428 | 0.0070 | -12 | c.62- others(27): Show |
PCP4 | ENSG00000183036.11 | transcript | ENST00000328619.10 | protein_coding | 2/2 | chr21 | TogoVar | ||||||
PCSK1N_chrX_48826096_48840610 | 48834779 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 314 | 0.0032 | -12 | c.114 others(27): Show |
PCSK1N | ENSG00000102109.9 | transcript | ENST00000218230.6 | protein_coding | 1/2 | chrX | TogoVar | ||||||
PCSK1_chr5_96385333_96438248 | 96425008 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp1 HG01074.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0004g0201a0001c0001t0004g0235a0001c0001t0004g0236others(12): Show | 16 | 392 | 0.0408 | -12 | c.396 others(27): Show |
PCSK1 | ENSG00000175426.11 | transcript | ENST00000311106.8 | protein_coding | 3/13 | chr5 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17258761 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 274 | 0.0037 | -12 | c.178 others(29): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17268031 | GTGTATAT others(5): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG00735.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018a0001c0001t0027 | a0001c0001t0005g0073a0001c0001t0018g0072a0001c0001t0027g0016 | 3 | 274 | 0.0110 | -12 | c.282 others(29): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17295213 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0010 | a0001c0010t0005 | a0001c0010t0005g0108 | 1 | 274 | 0.0037 | -12 | c.282 others(31): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17331055 | CCACAGTG others(5): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0226 | 1 | 274 | 0.0037 | -12 | c.283 others(31): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17347787 | CGAAAGAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00673.hp1 HG01109.hp2 others(17): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0060a0001c0001t0001g0129a0001c0001t0001g0159others(17): Show | 20 | 274 | 0.0730 | -12 | c.283 others(31): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17347856 | GAAAGAGG others(5): Show |
G | intron_variant | MODIFIER | HG01169.hp1 HG02056.hp2 HG03130.hp1 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0178a0001c0001t0001g0192a0001c0001t0001g0214others(8): Show | 11 | 274 | 0.0402 | -12 | c.283 others(31): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | chr20 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17347860 | GAGGAGAG others(5): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp1 HG01175.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0175a0001c0001t0002g0170a0001c0001t0002g0259others(6): Show | 9 | 274 | 0.0329 | -12 | c.283 others(31): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17347872 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG02129.hp1 HG02559.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(1): Show | a0001c0001t0001g0264a0001c0001t0010g0024a0001c0001t0012g0136others(2): Show | 5 | 274 | 0.0183 | -12 | c.283 others(31): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17347952 | GAAAGAAA others(5): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp2 HG02615.hp2 others(4): Show |
a0001 | a0001c0001a0001c0007a0001c0011 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0002g0229a0001c0001t0003g0135a0001c0001t0011g0142others(4): Show | 7 | 274 | 0.0256 | -12 | c.283 others(31): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17347956 | GAAAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(78): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0046a0001c0001t0001g0049a0001c0001t0001g0057others(78): Show | 81 | 274 | 0.2956 | -12 | c.283 others(31): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17348046 | GAAAGGAA others(5): Show |
G | intron_variant | MODIFIER | HG02148.hp2 NA19030.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0054 | a0001c0001t0001g0265a0001c0001t0003g0269a0001c0001t0054g0034 | 3 | 274 | 0.0110 | -12 | c.283 others(31): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | chr20 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17348050 | GGAAAGAA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(72): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0049a0001c0001t0001g0121a0001c0001t0001g0131others(72): Show | 75 | 274 | 0.2737 | -12 | c.283 others(31): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17378590 | CGGATGGA others(5): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018 | a0001c0001t0005g0073a0001c0001t0018g0072 | 2 | 274 | 0.0073 | -12 | c.543 others(29): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17378632 | GATGGATG others(5): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG01255.hp2 HG01515.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0002g0169a0001c0001t0006g0075a0001c0001t0006g0076others(3): Show | 6 | 274 | 0.0219 | -12 | c.543 others(29): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17421807 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00597.hp1 others(121): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0060a0001c0001t0001g0120a0001c0001t0001g0121others(121): Show | 124 | 274 | 0.4526 | -12 | c.621 others(29): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17479796 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0045 | 1 | 274 | 0.0037 | -12 | c.143 others(31): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17481388 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0267 | 1 | 274 | 0.0037 | -12 | c.143 others(29): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK4_chr19_1476428_1495350 | 1478412 | GTTTTGTT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02809.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0029 | a0001c0001t0001a0001c0002t0004a0001c0029t0004 | a0001c0001t0001g0008a0001c0001t0001g0030a0001c0001t0001g0048others(2): Show | 6 | 400 | 0.0150 | -12 | c.*33 others(23): Show |
PCSK4 | ENSG00000115257.15 | transcript | ENST00000300954.10 | protein_coding | 3015 | chr19 | TogoVar | ||||||
PCSK4_chr19_1476428_1495350 | 1479620 | ACGGTGCT others(5): Show |
A | downstream_gene_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 400 | 0.0025 | -12 | c.*21 others(23): Show |
PCSK4 | ENSG00000115257.15 | transcript | ENST00000300954.10 | protein_coding | 1807 | chr19 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 75889111 | AATACATA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01255.hp1 HG01884.hp1 HG02055.hp1 others(6): Show |
a0003a0004a0007others(6): Show | a0003c0098a0004c0006a0007c0008others(6): Show | a0003c0098t0017a0004c0006t0006a0007c0008t0012others(6): Show | a0003c0098t0017g0043a0004c0006t0006g0041a0007c0008t0012g0008others(6): Show | 9 | 166 | 0.0542 | -12 | c.-20 others(23): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 1561 | chr9 | TogoVar |