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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PEBP4_chr8_22708251_22932914 | 22749805 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02818.hp1 HG04184.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0002a0003c0004t0004 | a0001c0001t0001g0063 a0002c0002t0002g0234 a0002c0002t0002g0242 others(1): Show |
4 | 278 | 0.0144 | 21 | c.358 others(40): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
PEG3_chr19_56805082_56845726 | 56814215 | A | AGCAGCCT others(14): Show |
disruptive_inframe_insertion | MODERATE | HG03688.hp2 HG04115.hp1 |
a0015 | a0015c0019 | a0015c0019t0005 | a0015c0019t0005g0055 | 2 | 416 | 0.0048 | 21 | c.420 others(30): Show |
p.Ala others(36): Show |
PEG3 | ENSG00000198300.14 | transcript | ENST00000326441.15 | protein_coding | 10/10 | 4620/8754 | 4226/4767 | 1409/1588 | chr19 | TogoVar | |||
PELP1_chr17_4664774_4709137 | 4694497 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02630.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0002a0001c0015 | a0001c0002t0005a0001c0002t0006a0001c0015t0001 | a0001c0002t0005g0230 a0001c0002t0006g0005 a0001c0002t0006g0224 others(3): Show |
8 | 316 | 0.0253 | 21 | c.250 others(38): Show |
PELP1 | ENSG00000141456.16 | transcript | ENST00000572293.7 | protein_coding | 1/16 | chr17 | TogoVar | |||||||
PEPD_chr19_33381950_33526791 | 33431992 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG01192.hp2 others(19): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0078 others(19): Show |
22 | 314 | 0.0701 | 21 | c.672 others(40): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | |||||||
PEPD_chr19_33381950_33526791 | 33432010 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0171 | 1 | 314 | 0.0032 | 21 | c.672 others(40): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | |||||||
PEPD_chr19_33381950_33526791 | 33485491 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 314 | 0.0032 | 21 | c.503 others(38): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 6/14 | chr19 | TogoVar | |||||||
PER3_chr1_7779291_7850177 | 7806810 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 410 | 0.0024 | 21 | c.113 others(40): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PER3_chr1_7779291_7850177 | 7806812 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02135.hp1 NA18956.hp2 others(3): Show |
a0001a0022 | a0001c0003a0022c0030 | a0001c0003t0001a0001c0003t0004a0022c0030t0001 | a0001c0003t0001g0095 a0001c0003t0001g0109 a0001c0003t0001g0110 others(3): Show |
6 | 410 | 0.0146 | 21 | c.113 others(40): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7806812 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01099.hp2 HG01192.hp2 others(7): Show |
a0001a0019 | a0001c0003a0019c0031 | a0001c0003t0001a0001c0003t0004a0001c0003t0016others(1): Show | a0001c0003t0001g0062 a0001c0003t0001g0129 a0001c0003t0001g0130 others(7): Show |
10 | 410 | 0.0244 | 21 | c.113 others(40): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7815991 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0125 | 1 | 410 | 0.0024 | 21 | c.152 others(40): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(14): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0116 | 1 | 408 | 0.0025 | 21 | c.-26 others(32): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(14): Show |
upstream_gene_variant | MODIFIER | NA18947.hp2 NA18987.hp1 NA19011.hp2 others(2): Show |
a0002a0008 | a0002c0002a0008c0030 | a0002c0002t0002a0008c0030t0002 | a0002c0002t0002g0020 a0002c0002t0002g0257 a0008c0030t0002g0260 |
5 | 408 | 0.0123 | 21 | c.-26 others(32): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(14): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG03942.hp2 |
a0002a0015 | a0002c0002a0015c0043 | a0002c0002t0002a0015c0043t0002 | a0002c0002t0002g0048 a0015c0043t0002g0266 |
2 | 408 | 0.0049 | 21 | c.-26 others(32): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(14): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 HG01978.hp1 HG02083.hp2 others(5): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0004 | a0002c0002t0002g0006 a0002c0002t0002g0010 a0002c0002t0002g0019 others(3): Show |
8 | 408 | 0.0196 | 21 | c.-26 others(32): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(14): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00609.hp2 others(25): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0105 a0001c0001t0001g0136 others(18): Show |
28 | 408 | 0.0686 | 21 | c.-26 others(32): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTCTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 NA19003.hp1 NA19010.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0007t0001 | a0001c0001t0001g0129 a0001c0001t0003g0119 a0001c0007t0001g0005 |
3 | 408 | 0.0074 | 21 | c.-26 others(32): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PEX12_chr17_35569795_35583571 | 35581367 | T | TATAATAT others(14): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | 21 | c.-33 others(32): Show |
PEX12 | ENSG00000108733.11 | transcript | ENST00000225873.9 | protein_coding | 2797 | chr17 | TogoVar | |||||||
PEX14_chr1_10469950_10635758 | 10577556 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 258 | 0.0039 | 21 | c.170 others(40): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX5L_chr3_179789958_180041937 | 180011270 | A | AGTTCCTT others(14): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0002 | a0002c0002t0032 | a0002c0002t0032g0180 | 1 | 220 | 0.0046 | 21 | c.21+ others(38): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7196999 | A | ATTATATA others(14): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 428 | 0.0023 | 21 | c.449 others(38): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7197144 | A | ATTATATA others(14): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01081.hp1 HG01516.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0011 a0001c0001t0002g0029 a0001c0001t0002g0167 others(7): Show |
14 | 428 | 0.0327 | 21 | c.449 others(38): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7197232 | T | TGTAATAA others(14): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0037 | 2 | 428 | 0.0047 | 21 | c.449 others(38): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | chr12 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7197316 | T | TTATATAT others(14): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0202 | 1 | 428 | 0.0023 | 21 | c.449 others(38): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | chr12 | TogoVar | |||||||
PFKL_chr21_44295053_44332373 | 44301169 | A | AGAAGGAA others(14): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0186 | 1 | 392 | 0.0026 | 21 | c.85+ others(35): Show |
PFKL | ENSG00000141959.17 | transcript | ENST00000349048.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3113654 | A | ATGACTAC others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(246): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(51): Show | a0001c0001t0002g0006 a0001c0001t0002g0022 a0001c0001t0002g0036 others(246): Show |
249 | 402 | 0.6194 | 21 | c.137 others(38): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 13/21 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425907 | A | AACCCGCC others(14): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 438 | 0.0023 | 21 | c.-40 others(30): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 283 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425908 | A | ACCCGCCA others(14): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG02135.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 2 | 438 | 0.0046 | 21 | c.-40 others(30): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 282 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425908 | A | ACCCGCCA others(14): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 438 | 0.0023 | 21 | c.-40 others(30): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 282 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425908 | A | ACCCGCCG others(14): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG01361.hp1 HG01934.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(7): Show |
19 | 438 | 0.0434 | 21 | c.-40 others(30): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 282 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425912 | G | GCCGCCCG others(14): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 438 | 0.0023 | 21 | c.-39 others(30): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 278 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425919 | G | GCCGCCCG others(14): Show |
upstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 438 | 0.0023 | 21 | c.-38 others(30): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 271 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425919 | G | GCCGCCCT others(14): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG02083.hp1 HG02965.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0023 others(2): Show |
7 | 438 | 0.0160 | 21 | c.-38 others(30): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 271 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425926 | G | GCCGCCCG others(14): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 HG02129.hp1 HG03654.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 |
7 | 438 | 0.0160 | 21 | c.-38 others(30): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 264 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425926 | G | GCCGCCCG others(14): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG01975.hp2 HG02027.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(6): Show |
12 | 438 | 0.0274 | 21 | c.-38 others(30): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 264 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425926 | G | GCCGCCCT others(14): Show |
upstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 438 | 0.0023 | 21 | c.-38 others(30): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 264 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425926 | G | GCCGCCCT others(14): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG01069.hp1 NA18951.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0026 others(1): Show |
7 | 438 | 0.0160 | 21 | c.-38 others(30): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 264 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425954 | T | TCCGCCCG others(14): Show |
upstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 438 | 0.0023 | 21 | c.-35 others(30): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 236 | chr10 | TogoVar | |||||||
PGAP1_chr2_196828004_196931707 | 196832775 | A | ATTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 HG01109.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 a0001c0001t0002g0141 |
2 | 188 | 0.0106 | 21 | c.*84 others(32): Show |
PGAP1 | ENSG00000197121.15 | transcript | ENST00000354764.9 | protein_coding | 228 | chr2 | TogoVar | |||||||
PGAP3_chr17_39666122_39693057 | 39691556 | A | AAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0191 | 1 | 376 | 0.0027 | 21 | c.-35 others(32): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3500 | chr17 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 382108 | T | TGGGGCGC others(14): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01106.hp1 others(5): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0003a0002c0005t0006a0002c0005t0013others(1): Show | a0002c0002t0003g0172 a0002c0005t0006g0049 a0002c0005t0006g0050 others(4): Show |
8 | 376 | 0.0213 | 21 | c.-30 others(30): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 131 | chr16 | TogoVar | |||||||
PGBD5_chr1_230309490_230431332 | 230396284 | T | TTCCCTTT others(14): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0003 | a0002c0003t0063 | a0002c0003t0063g0233 | 1 | 288 | 0.0035 | 21 | c.331 others(40): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
PGGT1B_chr5_115199012_115267877 | 115238291 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02273.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0268 a0001c0001t0050g0272 |
2 | 372 | 0.0054 | 21 | c.328 others(36): Show |
PGGT1B | ENSG00000164219.10 | transcript | ENST00000419445.6 | protein_coding | 3/8 | chr5 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15482563 | T | TCTTTCTT others(14): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0042 | 1 | 382 | 0.0026 | 21 | c.-31 others(32): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3063 | chr19 | TogoVar | |||||||
PGLYRP2_chr19_15463645_15484501 | 15482612 | C | CTTCCTTC others(14): Show |
upstream_gene_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 382 | 0.0026 | 21 | c.-32 others(32): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 3112 | chr19 | TogoVar | |||||||
PGLYRP3_chr1_153292116_153317952 | 153297581 | G | GAAAGAAA others(14): Show |
3_prime_UTR_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0013 | a0002c0013t0099 | a0002c0013t0099g0142 | 1 | 434 | 0.0023 | 21 | c.*37 others(30): Show |
PGLYRP3 | ENSG00000159527.4 | transcript | ENST00000683862.1 | protein_coding | 8/8 | 374 | chr1 | TogoVar | ||||||
PGM2L1_chr11_74325316_74403433 | 74355553 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0004 | a0004c0005 | a0004c0005t0046 | a0004c0005t0046g0126 | 1 | 380 | 0.0026 | 21 | c.556 others(38): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 5/13 | chr11 | TogoVar | |||||||
PGM5_chr9_68351611_68536061 | 68376834 | T | TTTCTCTT others(14): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0040 | 1 | 246 | 0.0041 | 21 | c.262 others(38): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/10 | chr9 | TogoVar | |||||||
PGM5_chr9_68351611_68536061 | 68376834 | T | TTTCTTTC others(14): Show |
intron_variant | MODIFIER | NA18955.hp1 NA19003.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0049 a0001c0002t0002g0068 |
2 | 246 | 0.0081 | 21 | c.262 others(38): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/10 | chr9 | TogoVar | |||||||
PGM5_chr9_68351611_68536061 | 68376835 | C | CTTTCTTT others(14): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0017 | a0001c0017t0018 | a0001c0017t0018g0069 | 1 | 246 | 0.0041 | 21 | c.262 others(38): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PGPEP1_chr19_18335598_18374950 | 18338732 | T | TAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 NA18964.hp1 NA18984.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0053a0001c0001t0054others(2): Show | a0001c0001t0019g0048 a0001c0001t0053g0012 a0001c0001t0054g0049 others(2): Show |
5 | 412 | 0.0121 | 21 | c.-19 others(32): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 1865 | chr19 | TogoVar |