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 | 46436469 | GGCCCCCC others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp1 others(48): Show |
a0001a0003a0010others(8): Show | a0001c0030a0003c0003a0003c0080others(10): Show | a0001c0030t0001a0003c0003t0001a0003c0003t0002others(12): Show | a0001c0030t0001g0053a0003c0003t0001g0124a0003c0003t0001g0125others(48): Show | 51 | 332 | 0.1536 | -8 | c.899 others(25): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 39/46 | chr21 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70976354 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01167.hp2 HG01168.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0012a0001c0002t0016 | a0001c0002t0003g0254a0001c0002t0003g0279a0001c0002t0003g0280others(9): Show | 12 | 352 | 0.0341 | -8 | c.605 others(23): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 5/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70994396 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00735.hp2 others(34): Show |
a0001a0016 | a0001c0002a0001c0032a0016c0030 | a0001c0002t0006a0001c0002t0011a0001c0002t0019others(9): Show | a0001c0002t0006g0272a0001c0002t0006g0287a0001c0002t0006g0288others(34): Show | 37 | 352 | 0.1051 | -8 | c.244 others(27): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 7/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71006103 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00733.hp2 HG01109.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0020others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(11): Show | a0001c0001t0001g0154a0001c0001t0001g0170a0001c0001t0001g0182others(26): Show | 29 | 352 | 0.0824 | -8 | c.263 others(27): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 8/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71068420 | ATGTATAT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG02738.hp2 HG03704.hp1 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0011 | a0001c0002t0006g0330a0001c0002t0006g0332a0001c0002t0011g0329 | 3 | 352 | 0.0085 | -8 | c.485 others(27): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 26/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71094601 | CTTATGGA others(1): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02922.hp2 HG03453.hp2 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0073a0001c0010t0071a0001c0010t0072 | a0001c0002t0073g0253a0001c0010t0071g0351a0001c0010t0072g0350 | 3 | 352 | 0.0085 | -8 | c.558 others(27): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 30/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX2_chr1_232978435_233300725 | 232996974 | ATGTACAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00673.hp2 others(33): Show |
a0003a0004a0006others(9): Show | a0003c0003a0004c0005a0004c0035others(15): Show | a0003c0003t0002a0003c0003t0007a0003c0003t0008others(23): Show | a0003c0003t0002g0008a0003c0003t0002g0048a0003c0003t0002g0055others(33): Show | 36 | 146 | 0.2466 | -8 | c.579 others(27): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 32/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233074594 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG01358.hp1 others(19): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0004a0001c0031others(12): Show | a0001c0001t0001a0001c0001t0011a0001c0004t0001others(13): Show | a0001c0001t0001g0093a0001c0001t0011g0113a0001c0004t0001g0023others(19): Show | 22 | 146 | 0.1507 | -8 | c.407 others(29): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 23/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233080401 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02055.hp2 HG02886.hp1 others(4): Show |
a0001a0007a0010others(1): Show | a0001c0001a0001c0007a0007c0039others(2): Show | a0001c0001t0003a0001c0001t0006a0001c0007t0001others(3): Show | a0001c0001t0003g0037a0001c0001t0006g0120a0001c0007t0001g0002others(4): Show | 7 | 146 | 0.0480 | -8 | c.407 others(27): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 23/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233116379 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp2 HG02630.hp1 others(4): Show |
a0001a0006a0007others(1): Show | a0001c0004a0006c0043a0007c0010others(1): Show | a0001c0004t0001a0006c0043t0002a0007c0010t0001others(1): Show | a0001c0004t0001g0023a0001c0004t0001g0024a0001c0004t0001g0026others(4): Show | 7 | 146 | 0.0480 | -8 | c.383 others(29): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 21/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233119403 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01106.hp2 HG02258.hp1 others(2): Show |
a0001a0004a0006others(2): Show | a0001c0004a0004c0035a0006c0014others(2): Show | a0001c0004t0001a0004c0035t0001a0006c0014t0002others(2): Show | a0001c0004t0001g0020a0004c0035t0001g0025a0006c0014t0002g0012others(2): Show | 5 | 146 | 0.0343 | -8 | c.383 others(29): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 21/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233185084 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01952.hp1 others(14): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0009others(8): Show | a0001c0001t0005a0001c0001t0011a0001c0007t0001others(10): Show | a0001c0001t0005g0102a0001c0001t0011g0113a0001c0007t0001g0002others(14): Show | 17 | 146 | 0.1164 | -8 | c.306 others(27): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 15/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233218209 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG01070.hp1 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0013others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(12): Show | a0001c0001t0001g0068a0001c0001t0001g0075a0001c0001t0001g0097others(19): Show | 22 | 146 | 0.1507 | -8 | c.250 others(23): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 10/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233233424 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00741.hp2 others(26): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0004a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(21): Show | a0001c0001t0001g0041a0001c0001t0001g0067a0001c0001t0004g0091others(26): Show | 29 | 146 | 0.1986 | -8 | c.235 others(27): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 9/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233285678 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG01192.hp1 HG01257.hp2 others(6): Show |
a0002a0014a0015 | a0002c0002a0002c0011a0002c0013others(2): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0021others(5): Show | a0002c0002t0001g0057a0002c0002t0001g0088a0002c0002t0005g0009others(6): Show | 9 | 146 | 0.0616 | -8 | c.153 others(25): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 1/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233289802 | ATGGCAAC others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01192.hp1 others(9): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0002c0011others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(7): Show | a0001c0001t0001g0098a0002c0002t0001g0032a0002c0002t0001g0057others(9): Show | 12 | 146 | 0.0822 | -8 | c.153 others(25): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 1/33 | chr1 | TogoVar | ||||||
PCOLCE_chr7_100597363_100613175 | 100609222 | CTTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01255.hp2 HG01981.hp2 HG02559.hp1 others(3): Show |
a0001a0003a0007 | a0001c0001a0003c0008a0007c0013 | a0001c0001t0001a0003c0008t0001a0007c0013t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0010others(3): Show | 6 | 332 | 0.0181 | -8 | c.*11 others(19): Show |
PCOLCE | ENSG00000106333.13 | transcript | ENST00000223061.6 | protein_coding | 1048 | chr7 | TogoVar | ||||||
PCP4_chr21_39862438_39934392 | 39927279 | GATCTATC others(1): Show |
G | intron_variant | MODIFIER | NA18952.hp1 NA18983.hp1 NA19009.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045a0001c0001t0001g0101a0001c0001t0001g0172others(2): Show | 5 | 428 | 0.0117 | -8 | c.62- others(23): Show |
PCP4 | ENSG00000183036.11 | transcript | ENST00000328619.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCP4_chr21_39862438_39934392 | 39927365 | CTATCATC others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp1 others(180): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0010others(179): Show | 183 | 428 | 0.4276 | -8 | c.62- others(23): Show |
PCP4 | ENSG00000183036.11 | transcript | ENST00000328619.10 | protein_coding | 2/2 | chr21 | TogoVar | ||||||
PCSK1N_chrX_48826096_48840610 | 48834779 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(73): Show |
a0001a0005a0009 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0040a0001c0001t0001g0049a0001c0002t0001g0002others(11): Show | 76 | 314 | 0.2420 | -8 | c.114 others(23): Show |
PCSK1N | ENSG00000102109.9 | transcript | ENST00000218230.6 | protein_coding | 1/2 | chrX | TogoVar | ||||||
PCSK1_chr5_96385333_96438248 | 96421993 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00558.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0206a0001c0001t0004g0009a0001c0001t0004g0131others(30): Show | 34 | 392 | 0.0867 | -8 | c.544 others(21): Show |
PCSK1 | ENSG00000175426.11 | transcript | ENST00000311106.8 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
PCSK1_chr5_96385333_96438248 | 96425008 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG00642.hp2 others(41): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0196a0001c0001t0001g0206others(37): Show | 44 | 392 | 0.1122 | -8 | c.396 others(23): Show |
PCSK1 | ENSG00000175426.11 | transcript | ENST00000311106.8 | protein_coding | 3/13 | chr5 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17248175 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01099.hp2 HG01256.hp2 HG01261.hp2 others(15): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0019a0001c0001t0001g0148a0001c0001t0001g0265others(15): Show | 18 | 274 | 0.0657 | -8 | c.178 others(27): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17275084 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(63): Show |
a0001 | a0001c0001a0001c0010a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0025a0001c0001t0001g0120a0001c0001t0001g0126others(63): Show | 66 | 274 | 0.2409 | -8 | c.282 others(27): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17295213 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0036 | a0001c0001t0026g0153a0001c0001t0026g0155a0001c0001t0036g0026 | 3 | 274 | 0.0110 | -8 | c.282 others(27): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17347787 | CGAAAGAA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00621.hp2 others(38): Show |
a0001 | a0001c0001a0001c0010a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0019a0001c0001t0001g0049a0001c0001t0001g0052others(38): Show | 41 | 274 | 0.1496 | -8 | c.283 others(27): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17347860 | GAGGAGAG others(1): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG01884.hp2 HG02451.hp2 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0131a0001c0001t0001g0167a0001c0001t0001g0198others(5): Show | 8 | 274 | 0.0292 | -8 | c.283 others(27): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | chr20 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17347861 | AGGAGAGA others(1): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01261.hp1 HG01515.hp2 others(3): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0015a0001c0001t0019a0001c0001t0022others(3): Show | a0001c0001t0015g0043a0001c0001t0019g0086a0001c0001t0022g0200others(3): Show | 6 | 274 | 0.0219 | -8 | c.283 others(27): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | chr20 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17347872 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01884.hp1 HG01978.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0120a0001c0001t0001g0159a0001c0001t0001g0201others(9): Show | 12 | 274 | 0.0438 | -8 | c.283 others(27): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17347934 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp2 HG01109.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0060others(31): Show | 34 | 274 | 0.1241 | -8 | c.283 others(27): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17347956 | GAAAGAGA others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00621.hp1 others(37): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0052a0001c0001t0001g0129a0001c0001t0001g0130others(37): Show | 40 | 274 | 0.1460 | -8 | c.283 others(27): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17347960 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(22): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0025a0001c0001t0003g0001a0001c0001t0003g0002others(22): Show | 25 | 274 | 0.0912 | -8 | c.283 others(27): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17348050 | GGAAAGAA others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG01109.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0001g0046a0001c0001t0003g0135a0001c0001t0003g0220others(11): Show | 14 | 274 | 0.0511 | -8 | c.283 others(27): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17372385 | TAATAAAT others(1): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01256.hp1 HG01258.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0141a0001c0001t0001g0164a0001c0001t0001g0274others(7): Show | 10 | 274 | 0.0365 | -8 | c.543 others(25): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17378590 | CGGATGGA others(1): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG01891.hp1 HG02258.hp2 others(13): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(5): Show | a0001c0001t0001g0019a0001c0001t0001g0057a0001c0001t0010g0152others(13): Show | 16 | 274 | 0.0584 | -8 | c.543 others(25): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17479796 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0012a0001c0001t0020a0001c0001t0031others(2): Show | a0001c0001t0012g0132a0001c0001t0012g0136a0001c0001t0012g0191others(5): Show | 8 | 274 | 0.0292 | -8 | c.143 others(27): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK2_chr20_17222040_17489578 | 17481388 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp2 HG01123.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0001g0198a0001c0001t0009g0003a0001c0001t0009g0097others(10): Show | 13 | 274 | 0.0475 | -8 | c.143 others(25): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 75888813 | AAAATAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01071.hp2 others(27): Show |
a0001a0002a0003others(16): Show | a0001c0049a0001c0063a0002c0009others(24): Show | a0001c0049t0013a0001c0063t0003a0002c0009t0007others(25): Show | a0001c0049t0013g0120a0001c0063t0003g0066a0002c0009t0007g0039others(27): Show | 30 | 166 | 0.1807 | -8 | c.-23 others(19): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 1859 | chr9 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 75889111 | AATACATA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01123.hp2 others(15): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0095a0002c0009others(9): Show | a0001c0001t0002a0001c0001t0035a0001c0095t0002others(12): Show | a0001c0001t0002g0097a0001c0001t0002g0101a0001c0001t0002g0112others(15): Show | 18 | 166 | 0.1084 | -8 | c.-20 others(19): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 1561 | chr9 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 75902214 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02622.hp2 others(7): Show |
a0001a0004a0006others(7): Show | a0001c0013a0004c0070a0006c0014others(7): Show | a0001c0013t0023a0004c0070t0042a0006c0014t0048others(7): Show | a0001c0013t0023g0137a0004c0070t0042g0050a0006c0014t0048g0115others(7): Show | 10 | 166 | 0.0602 | -8 | c.192 others(27): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 75908867 | CTTTCTAT others(1): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG03130.hp2 |
a0001a0015 | a0001c0013a0015c0023 | a0001c0013t0023a0015c0023t0004 | a0001c0013t0023g0137a0015c0023t0004g0005 | 2 | 166 | 0.0121 | -8 | c.192 others(27): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 75908875 | TTATCTAT others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp1 NA18991.hp1 NA21309.hp2 |
a0001a0019a0021 | a0001c0001a0019c0025a0021c0099 | a0001c0001t0008a0019c0025t0005a0021c0099t0030 | a0001c0001t0008g0068a0019c0025t0005g0032a0021c0099t0030g0140 | 3 | 166 | 0.0181 | -8 | c.192 others(27): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 75908917 | ATCTATCT others(1): Show |
A | intron_variant | MODIFIER | HG01258.hp2 HG01934.hp2 HG02647.hp1 others(6): Show |
a0002a0006a0011others(6): Show | a0002c0046a0006c0014a0011c0043others(6): Show | a0002c0046t0010a0006c0014t0021a0011c0043t0024others(6): Show | a0002c0046t0010g0125a0006c0014t0021g0117a0011c0043t0024g0136others(6): Show | 9 | 166 | 0.0542 | -8 | c.192 others(27): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 75908933 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp1 NA19030.hp2 |
a0002a0016 | a0002c0094a0016c0028 | a0002c0094t0025a0016c0028t0062 | a0002c0094t0025g0090a0016c0028t0062g0074 | 2 | 166 | 0.0121 | -8 | c.192 others(27): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 75928596 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG03453.hp1 NA19091.hp2 |
a0001a0015 | a0001c0001a0015c0023 | a0001c0001t0026a0015c0023t0018 | a0001c0001t0026g0087a0015c0023t0018g0111 | 2 | 166 | 0.0121 | -8 | c.193 others(25): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 75976274 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01516.hp2 others(3): Show |
a0002a0003a0012others(1): Show | a0002c0019a0003c0005a0012c0020others(2): Show | a0002c0019t0011a0003c0005t0007a0003c0005t0011others(3): Show | a0002c0019t0011g0085a0003c0005t0007g0030a0003c0005t0011g0094others(3): Show | 6 | 166 | 0.0361 | -8 | c.298 others(25): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 75995744 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01168.hp2 HG01169.hp2 others(5): Show |
a0005a0006a0016others(3): Show | a0005c0002a0006c0012a0016c0028others(3): Show | a0005c0002t0009a0006c0012t0046a0016c0028t0061others(3): Show | a0005c0002t0009g0153a0005c0002t0009g0160a0005c0002t0009g0162others(5): Show | 8 | 166 | 0.0482 | -8 | c.411 others(25): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76007796 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG02965.hp1 HG03471.hp2 others(1): Show |
a0001a0006a0011others(1): Show | a0001c0049a0006c0067a0011c0043others(1): Show | a0001c0049t0013a0006c0067t0001a0011c0043t0024others(1): Show | a0001c0049t0013g0120a0006c0067t0001g0058a0011c0043t0024g0136others(1): Show | 4 | 166 | 0.0241 | -8 | c.412 others(27): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76040325 | GTCTCTCT others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG01934.hp1 HG02738.hp1 others(1): Show |
a0001a0007a0020 | a0001c0001a0001c0054a0007c0015others(1): Show | a0001c0001t0002a0001c0054t0010a0007c0015t0001others(1): Show | a0001c0001t0002g0077a0001c0054t0010g0095a0007c0015t0001g0059others(1): Show | 4 | 166 | 0.0241 | -8 | c.632 others(27): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76040377 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01069.hp2 others(39): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0049a0002c0009others(31): Show | a0001c0001t0002a0001c0049t0013a0002c0009t0007others(38): Show | a0001c0001t0002g0101a0001c0049t0013g0120a0002c0009t0007g0039others(39): Show | 42 | 166 | 0.2530 | -8 | c.632 others(27): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |