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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLRG1_chr4_154530005_154555400 | 154533383 | AAAAAAAA others(6): Show |
A | downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 430 | 0.0023 | -13 | c.*32 others(24): Show |
PLRG1 | ENSG00000171566.12 | transcript | ENST00000499023.7 | protein_coding | 1621 | chr4 | TogoVar | |||||||
PLS1_chr3_142591393_142718664 | 142600904 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0159 a0001c0001t0001g0162 |
3 | 276 | 0.0109 | -13 | c.-37 others(30): Show |
PLS1 | ENSG00000120756.13 | transcript | ENST00000457734.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLS1_chr3_142591393_142718664 | 142600906 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG03041.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0004 a0002c0003t0002g0120 |
2 | 276 | 0.0073 | -13 | c.-37 others(30): Show |
PLS1 | ENSG00000120756.13 | transcript | ENST00000457734.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLS1_chr3_142591393_142718664 | 142600908 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0254 | 1 | 276 | 0.0036 | -13 | c.-37 others(30): Show |
PLS1 | ENSG00000120756.13 | transcript | ENST00000457734.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLS1_chr3_142591393_142718664 | 142600910 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 276 | 0.0036 | -13 | c.-37 others(30): Show |
PLS1 | ENSG00000120756.13 | transcript | ENST00000457734.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLS1_chr3_142591393_142718664 | 142704635 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0156 others(2): Show |
5 | 276 | 0.0181 | -13 | c.162 others(28): Show |
PLS1 | ENSG00000120756.13 | transcript | ENST00000457734.7 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLS3_chrX_115556174_115655861 | 115606160 | CTTTTCTT others(6): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01167.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(12): Show |
15 | 254 | 0.0591 | -13 | c.-8- others(28): Show |
PLS3 | ENSG00000102024.19 | transcript | ENST00000355899.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLS3_chrX_115556174_115655861 | 115633799 | TTTTTTAT others(6): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0121 |
2 | 254 | 0.0079 | -13 | c.501 others(28): Show |
PLS3 | ENSG00000102024.19 | transcript | ENST00000355899.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLS3_chrX_115556174_115655861 | 115641061 | AAGGAGTT others(6): Show |
A | intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 254 | 0.0039 | -13 | c.987 others(28): Show |
PLS3 | ENSG00000102024.19 | transcript | ENST00000355899.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLSCR4_chr3_146187335_146256105 | 146191723 | TATATATA others(6): Show |
T | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0303 | 1 | 380 | 0.0026 | -13 | c.*26 others(24): Show |
PLSCR4 | ENSG00000114698.15 | transcript | ENST00000354952.7 | protein_coding | 611 | chr3 | TogoVar | |||||||
PLSCR4_chr3_146187335_146256105 | 146191738 | ATTTTTTT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0014a0001c0001t0024 | a0001c0001t0009g0022 a0001c0001t0014g0025 a0001c0001t0024g0217 |
5 | 380 | 0.0132 | -13 | c.*26 others(24): Show |
PLSCR4 | ENSG00000114698.15 | transcript | ENST00000354952.7 | protein_coding | 596 | chr3 | TogoVar | |||||||
PLSCR4_chr3_146187335_146256105 | 146229588 | TTTTCATT others(6): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02258.hp2 others(10): Show |
a0002a0003a0005 | a0002c0002a0003c0003a0005c0005 | a0002c0002t0003a0002c0002t0006a0002c0002t0007others(9): Show | a0002c0002t0003g0307 a0002c0002t0006g0090 a0002c0002t0007g0306 others(10): Show |
13 | 380 | 0.0342 | -13 | c.-21 others(30): Show |
PLSCR4 | ENSG00000114698.15 | transcript | ENST00000354952.7 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
PLVAP_chr19_17346455_17382342 | 17379904 | GTTTTTTT others(6): Show |
G | upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0023 | 1 | 436 | 0.0023 | -13 | c.-26 others(24): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2563 | chr19 | TogoVar | |||||||
PLVAP_chr19_17346455_17382342 | 17381457 | ATTTTTTT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02622.hp1 HG02886.hp2 NA18953.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0233 a0001c0001t0001g0321 a0001c0001t0002g0046 others(3): Show |
6 | 436 | 0.0138 | -13 | c.-41 others(24): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 4116 | chr19 | TogoVar | |||||||
PLVAP_chr19_17346455_17382342 | 17382275 | AAAAAAAA others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0142 | 1 | 436 | 0.0023 | -13 | c.-50 others(24): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 4934 | chr19 | TogoVar | |||||||
PLXDC1_chr17_39058313_39156637 | 39095376 | CCCCAACC others(6): Show |
C | intron_variant | MODIFIER | HG02015.hp1 NA19003.hp1 |
a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0144 a0001c0004t0007g0148 |
2 | 320 | 0.0063 | -13 | c.812 others(30): Show |
PLXDC1 | ENSG00000161381.14 | transcript | ENST00000315392.9 | protein_coding | 7/13 | chr17 | TogoVar | |||||||
PLXDC2_chr10_19811432_20294856 | 19852425 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp2 HG02055.hp1 others(12): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0027others(11): Show | a0001c0001t0001g0132 a0001c0001t0004g0096 a0001c0001t0027g0158 others(12): Show |
15 | 180 | 0.0833 | -13 | c.112 others(32): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 19927713 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0003 | a0003c0003 | a0003c0003t0023 | a0003c0003t0023g0047 | 1 | 180 | 0.0056 | -13 | c.113 others(32): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 19928749 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG03098.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0087a0002c0002t0064 | a0001c0001t0087g0095 a0002c0002t0064g0021 |
2 | 180 | 0.0111 | -13 | c.113 others(32): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20033191 | TATAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp1 HG02630.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0027a0001c0001t0061others(2): Show | a0001c0001t0004g0107 a0001c0001t0027g0158 a0001c0001t0061g0030 others(2): Show |
5 | 180 | 0.0278 | -13 | c.325 others(32): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20044211 | GTCTTTCT others(6): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 180 | 0.0056 | -13 | c.325 others(30): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
PLXNA2_chr1_208017242_208249384 | 208128695 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02055.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0019a0002c0002 | a0001c0001t0001a0001c0001t0032a0001c0001t0047others(3): Show | a0001c0001t0001g0192 a0001c0001t0032g0236 a0001c0001t0047g0253 others(5): Show |
8 | 312 | 0.0256 | -13 | c.150 others(34): Show |
PLXNA2 | ENSG00000076356.7 | transcript | ENST00000367033.4 | protein_coding | 4/31 | chr1 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132151293 | AGAAGAAG others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00621.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(12): Show | a0001c0001t0001g0019 a0001c0001t0001g0045 a0001c0001t0001g0048 others(16): Show |
19 | 88 | 0.2159 | -13 | c.466 others(32): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 25/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132178729 | CACTTGTA others(6): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG03688.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0002 | a0001c0002t0003g0004 a0001c0003t0002g0060 |
2 | 88 | 0.0227 | -13 | c.387 others(30): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 20/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132188998 | GAGAGAGA others(6): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0020 | a0001c0020t0012 | a0001c0020t0012g0037 | 1 | 88 | 0.0114 | -13 | c.285 others(32): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 14/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132259436 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0010 | a0001c0010t0011 | a0001c0010t0011g0001 | 1 | 88 | 0.0114 | -13 | c.150 others(34): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 4/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132282610 | GAAAAAAA others(6): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG02257.hp2 HG02647.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0019a0002c0016 | a0001c0001t0001a0001c0001t0003a0001c0019t0006others(1): Show | a0001c0001t0001g0052 a0001c0001t0003g0072 a0001c0019t0006g0075 others(1): Show |
4 | 88 | 0.0455 | -13 | c.150 others(34): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 4/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132561291 | CTCCTTCT others(6): Show |
C | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0024 | a0001c0024t0008 | a0001c0024t0008g0030 | 1 | 88 | 0.0114 | -13 | c.-87 others(32): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 1/31 | chr7 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50306119 | TCTTGGCA others(6): Show |
T | intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0013 | a0002c0013t0003 | a0002c0013t0003g0239 | 1 | 302 | 0.0033 | -13 | c.-74 others(30): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 1/36 | chr22 | TogoVar | |||||||
PLXNC1_chr12_94143577_94312675 | 94215572 | AGATAGAT others(6): Show |
A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG03834.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0009 a0001c0003t0001g0276 a0001c0003t0001g0277 |
3 | 298 | 0.0101 | -13 | c.155 others(32): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 5/30 | chr12 | TogoVar | |||||||
PLXNC1_chr12_94143577_94312675 | 94301953 | CCTTAGCC others(6): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0003a0001c0014t0003 | a0001c0001t0003g0135 a0001c0014t0003g0016 a0001c0014t0003g0017 others(1): Show |
4 | 298 | 0.0134 | -13 | c.438 others(30): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 28/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PML_chr15_73989716_74052827 | 74029302 | ATGCACAC others(6): Show |
A | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 342 | 0.0029 | -13 | c.125 others(32): Show |
PML | ENSG00000140464.20 | transcript | ENST00000268058.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PML_chr15_73989716_74052827 | 74048578 | ACCCCCCC others(6): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0010 | a0001c0001t0001g0248 a0001c0001t0007g0082 a0001c0001t0010g0123 |
3 | 342 | 0.0088 | -13 | c.*35 others(24): Show |
PML | ENSG00000140464.20 | transcript | ENST00000268058.8 | protein_coding | 752 | chr15 | TogoVar | |||||||
PMM2_chr16_8792839_8854325 | 8833936 | ACAGTGTA others(6): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0016 | a0001c0001t0010g0027 a0001c0001t0010g0028 a0001c0001t0010g0029 others(4): Show |
7 | 408 | 0.0172 | -13 | c.640 others(32): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PMM2_chr16_8792839_8854325 | 8851977 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG01256.hp1 others(20): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0004a0001c0001t0008a0001c0010t0004 | a0001c0001t0004g0009 a0001c0001t0004g0220 a0001c0001t0004g0298 others(18): Show |
23 | 408 | 0.0564 | -13 | c.*41 others(24): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2653 | chr16 | TogoVar | |||||||
PMP22_chr17_15224779_15270326 | 15240403 | GTATTTTT others(6): Show |
G | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0183 | 1 | 426 | 0.0024 | -13 | c.179 others(28): Show |
PMP22 | ENSG00000109099.16 | transcript | ENST00000312280.9 | protein_coding | 3/4 | chr17 | TogoVar | |||||||
PMPCA_chr9_136405658_136428761 | 136410479 | GCGTCGCC others(6): Show |
G | upstream_gene_variant | MODIFIER | HG02970.hp2 HG04204.hp1 NA18986.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0091 a0001c0002t0003g0006 a0001c0002t0003g0011 |
4 | 390 | 0.0103 | -13 | c.-18 others(22): Show |
PMPCA | ENSG00000165688.14 | transcript | ENST00000371717.8 | protein_coding | 178 | chr9 | TogoVar | |||||||
PMS1_chr2_189779450_189882629 | 189809447 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0214 | 1 | 234 | 0.0043 | -13 | c.418 others(30): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PMS1_chr2_189779450_189882629 | 189864688 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02735.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0003t0001 | a0001c0001t0008g0038 a0001c0003t0001g0041 |
2 | 234 | 0.0086 | -13 | c.234 others(30): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 5969147 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01258.hp1 others(1): Show |
a0001a0002a0004 | a0001c0002a0002c0001a0004c0005 | a0001c0002t0008a0002c0001t0001a0004c0005t0003 | a0001c0002t0008g0251 a0002c0001t0001g0182 a0004c0005t0003g0001 |
4 | 408 | 0.0098 | -13 | c.*42 others(24): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 1777 | chr7 | TogoVar | |||||||
PMVK_chr1_154919740_154941719 | 154921479 | TTGAAATA others(6): Show |
T | downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0117 | 1 | 294 | 0.0034 | -13 | c.*36 others(24): Show |
PMVK | ENSG00000163344.6 | transcript | ENST00000368467.4 | protein_coding | 3260 | chr1 | TogoVar | |||||||
PNCK_chrX_153664733_153678813 | 153677549 | ATATATAT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0014 a0001c0001t0003g0052 |
3 | 276 | 0.0109 | -13 | c.-37 others(24): Show |
PNCK | ENSG00000130822.16 | transcript | ENST00000340888.8 | protein_coding | 3737 | chrX | TogoVar | |||||||
PNCK_chrX_153664733_153678813 | 153677705 | TATATATA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02572.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0025 a0001c0001t0004g0011 a0001c0001t0004g0024 |
6 | 276 | 0.0217 | -13 | c.-39 others(24): Show |
PNCK | ENSG00000130822.16 | transcript | ENST00000340888.8 | protein_coding | 3893 | chrX | TogoVar | |||||||
PNCK_chrX_153664733_153678813 | 153677727 | AGTGTATA others(6): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00741.hp2 HG01175.hp1 others(42): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(16): Show |
45 | 276 | 0.1630 | -13 | c.-39 others(24): Show |
PNCK | ENSG00000130822.16 | transcript | ENST00000340888.8 | protein_coding | 3915 | chrX | TogoVar | |||||||
PNISR_chr6_99393050_99430308 | 99419152 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 406 | 0.0025 | -13 | c.-11 others(32): Show |
PNISR | ENSG00000132424.17 | transcript | ENST00000369239.10 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PNISR_chr6_99393050_99430308 | 99419178 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00741.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0003 a0001c0001t0002g0018 a0001c0001t0002g0158 others(14): Show |
35 | 406 | 0.0862 | -13 | c.-11 others(32): Show |
PNISR | ENSG00000132424.17 | transcript | ENST00000369239.10 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PNKD_chr2_218265519_218351793 | 218293927 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0129 | 1 | 280 | 0.0036 | -13 | c.236 others(32): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PNKD_chr2_218265519_218351793 | 218318950 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0005a0001c0008t0003 | a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0005 others(3): Show |
6 | 280 | 0.0214 | -13 | c.237 others(32): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PNKP_chr19_49856204_49872576 | 49859444 | AGCCAGGC others(6): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02647.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 3 | 430 | 0.0070 | -13 | c.*17 others(24): Show |
PNKP | ENSG00000039650.12 | transcript | ENST00000322344.8 | protein_coding | 1759 | chr19 | TogoVar | |||||||
PNLDC1_chr6_159795276_159825704 | 159795452 | TCTTAACG others(6): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp2 others(112): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0013 | a0001c0001t0001a0001c0007t0001a0003c0013t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0013 others(65): Show |
115 | 400 | 0.2875 | -13 | c.-48 others(24): Show |
PNLDC1 | ENSG00000146453.13 | transcript | ENST00000392167.4 | protein_coding | 4823 | chr6 | TogoVar |