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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PGM5_chr9_68351611_68536061 | 68444614 | ATGAGTTG others(18): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0040 | 1 | 246 | 0.0041 | -25 | c.104 others(46): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PGR_chr11_101024624_101134813 | 101046292 | ATTTTTTT others(18): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0108 | 1 | 254 | 0.0039 | -25 | c.248 others(44): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13218853 | AAAGAGAA others(18): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01261.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0002g0056a0001c0001t0002g0071others(1): Show | 4 | 108 | 0.0370 | -25 | c.987 others(42): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR1_chr6_12711767_13292837 | 13288118 | CTTTTTTT others(18): Show |
C | downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 108 | 0.0093 | -25 | c.*10 others(36): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 282 | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143779899 | TTTATATT others(18): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG01884.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0298a0001c0001t0003g0273 | 2 | 310 | 0.0065 | -25 | c.164 others(44): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59675002 | TCTCCTGT others(18): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01928.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0062a0001c0001t0001g0081a0001c0001t0001g0119others(13): Show | 16 | 250 | 0.0640 | -25 | c.119 others(44): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PHACTR3_chr20_59599540_59852711 | 59822210 | GCAGCCAT others(18): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0035 | 1 | 250 | 0.0040 | -25 | c.132 others(46): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | chr20 | TogoVar | ||||||
PHC2_chr1_33318626_33436095 | 33435962 | CATGAGGG others(18): Show |
C | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01109.hp2 HG01123.hp2 others(38): Show |
a0001 | a0001c0001a0001c0006a0001c0011 | a0001c0001t0005a0001c0001t0012a0001c0001t0017others(4): Show | a0001c0001t0005g0072a0001c0001t0005g0073a0001c0001t0005g0074others(38): Show | 41 | 370 | 0.1108 | -25 | c.-50 others(36): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 4868 | chr1 | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22091381 | TATCTGTC others(18): Show |
T | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0090 | 1 | 231 | 0.0043 | -25 | c.732 others(40): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 6/21 | chrX | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 45975322 | CAAAATAA others(18): Show |
C | intron_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0024 | 1 | 280 | 0.0036 | -25 | c.361 others(42): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 7/18 | chr11 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 45007679 | TGCGCGGG others(18): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00558.hp2 others(43): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0042others(43): Show | 46 | 300 | 0.1533 | -25 | c.120 others(40): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 45007706 | CGCGGGGA others(18): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(99): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0033a0001c0001t0001g0178a0001c0001t0001g0179others(99): Show | 102 | 300 | 0.3400 | -25 | c.120 others(40): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
PHF23_chr17_7230038_7244457 | 7243193 | GCAGCGCC others(18): Show |
G | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02630.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0017a0001c0003t0001g0030 | 6 | 394 | 0.0152 | -25 | c.-39 others(36): Show |
PHF23 | ENSG00000040633.13 | transcript | ENST00000320316.8 | protein_coding | 3737 | chr17 | TogoVar | ||||||
PHF2_chr9_93571584_93684587 | 93587231 | GGAGCCCT others(18): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01168.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0299a0002c0002t0001g0301a0002c0002t0001g0302 | 3 | 350 | 0.0086 | -25 | c.98+ others(42): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PHF2_chr9_93571584_93684587 | 93587462 | GGATGGAG others(18): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG02015.hp1 HG02135.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0023a0002c0002t0001 | a0001c0001t0023g0094a0002c0002t0001g0093a0002c0002t0001g0256 | 3 | 350 | 0.0086 | -25 | c.98+ others(42): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PHF2_chr9_93571584_93684587 | 93666794 | TGAGCCTG others(18): Show |
T | intron_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0178 | 1 | 350 | 0.0029 | -25 | c.218 others(42): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 16/21 | chr9 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678910 | TGTGTGTG others(18): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0070 | 1 | 350 | 0.0029 | -25 | c.*51 others(36): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2477 | chr10 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46803044 | CAAAAAAA others(18): Show |
C | downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0164 | a0001c0001t0164g0318 | 1 | 322 | 0.0031 | -25 | c.*93 others(36): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 173 | chr18 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72790461 | ACACTTAT others(18): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0011 | a0011c0007 | a0011c0007t0002 | a0011c0007t0002g0012 | 1 | 346 | 0.0029 | -25 | c.253 others(42): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PIEZO2_chr18_10665247_11154569 | 11122932 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0055 | a0002c0055t0002 | a0002c0055t0002g0140 | 1 | 158 | 0.0063 | -25 | c.64+ others(42): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 1/55 | chr18 | TogoVar | ||||||
PIGL_chr17_16212210_16331411 | 16320419 | GGAAGGAA others(18): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01106.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0161a0001c0001t0003g0006a0001c0001t0003g0007others(28): Show | 31 | 246 | 0.1260 | -25 | c.660 others(42): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PIGU_chr20_34555542_34682092 | 34590577 | GTAACATA others(18): Show |
G | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0078 | 2 | 320 | 0.0063 | -25 | c.628 others(42): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 7/11 | chr20 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631760 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 320 | 0.0031 | -25 | c.529 others(42): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631761 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01515.hp1 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286a0001c0001t0001g0315a0001c0001t0001g0317 | 3 | 320 | 0.0094 | -25 | c.529 others(42): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631763 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG03130.hp1 HG04199.hp1 NA18962.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163a0001c0001t0001g0164a0001c0001t0001g0205others(1): Show | 4 | 320 | 0.0125 | -25 | c.529 others(42): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631765 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG03471.hp2 NA18612.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0287others(1): Show | 4 | 320 | 0.0125 | -25 | c.529 others(42): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631767 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 320 | 0.0031 | -25 | c.529 others(42): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631775 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 320 | 0.0031 | -25 | c.529 others(42): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631777 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 320 | 0.0031 | -25 | c.529 others(42): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34631779 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01175.hp2 NA18940.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0108a0001c0001t0002g0045 | 2 | 320 | 0.0063 | -25 | c.529 others(42): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | ||||||
PIGU_chr20_34555542_34682092 | 34657968 | CTCCACGG others(18): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02559.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0099others(1): Show | 4 | 320 | 0.0125 | -25 | c.131 others(40): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 1/11 | chr20 | TogoVar | ||||||
PIGX_chr3_196707377_196741007 | 196732234 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0198 | 1 | 416 | 0.0024 | -25 | c.633 others(42): Show |
PIGX | ENSG00000163964.18 | transcript | ENST00000392391.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PIGX_chr3_196707377_196741007 | 196732238 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0172 | 1 | 416 | 0.0024 | -25 | c.633 others(42): Show |
PIGX | ENSG00000163964.18 | transcript | ENST00000392391.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PIGX_chr3_196707377_196741007 | 196732241 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG02280.hp2 HG03139.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0001t0007a0001c0001t0015others(1): Show | a0001c0001t0005g0007a0001c0001t0007g0007a0001c0001t0007g0154others(2): Show | 6 | 416 | 0.0144 | -25 | c.633 others(42): Show |
PIGX | ENSG00000163964.18 | transcript | ENST00000392391.9 | protein_coding | 5/5 | chr3 | TogoVar | ||||||
PIGX_chr3_196707377_196741007 | 196732242 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02683.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0194a0001c0001t0015g0287 | 2 | 416 | 0.0048 | -25 | c.633 others(42): Show |
PIGX | ENSG00000163964.18 | transcript | ENST00000392391.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PIGX_chr3_196707377_196741007 | 196732244 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0191a0001c0001t0007g0193 | 2 | 416 | 0.0048 | -25 | c.633 others(42): Show |
PIGX | ENSG00000163964.18 | transcript | ENST00000392391.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PIGZ_chr3_196941356_196973833 | 196948931 | TTACTTCC others(18): Show |
T | intron_variant | MODIFIER | HG01175.hp2 | a0004 | a0004c0044 | a0004c0044t0003 | a0004c0044t0003g0331 | 1 | 424 | 0.0024 | -25 | c.212 others(40): Show |
PIGZ | ENSG00000119227.8 | transcript | ENST00000412723.6 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
PIK3C2A_chr11_17081575_17212986 | 17193847 | AAAAAGAA others(18): Show |
A | intron_variant | MODIFIER | HG02818.hp1 HG03041.hp2 NA18906.hp2 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0009t0024 | a0001c0002t0001g0201a0001c0002t0001g0292a0001c0009t0024g0293 | 3 | 342 | 0.0088 | -25 | c.-66 others(44): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 1/32 | chr11 | TogoVar | ||||||
PIK3C2B_chr1_204417633_204499805 | 204471068 | CTGGTATT others(18): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG03471.hp1 |
a0001a0016 | a0001c0008a0016c0034 | a0001c0008t0020a0016c0034t0003 | a0001c0008t0020g0015a0016c0034t0003g0119 | 2 | 302 | 0.0066 | -25 | c.-84 others(42): Show |
PIK3C2B | ENSG00000133056.14 | transcript | ENST00000684373.1 | protein_coding | 1/32 | chr1 | TogoVar | ||||||
PIK3CA_chr3_179143357_179245093 | 179205020 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | NA18961.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0147a0001c0001t0007g0148 | 2 | 282 | 0.0071 | -25 | c.114 others(42): Show |
PIK3CA | ENSG00000121879.6 | transcript | ENST00000263967.4 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PIK3CB_chr3_138647698_138839928 | 138693941 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 206 | 0.0049 | -25 | c.189 others(42): Show |
PIK3CB | ENSG00000051382.9 | transcript | ENST00000674063.1 | protein_coding | 14/23 | chr3 | TogoVar | ||||||
PIK3CB_chr3_138647698_138839928 | 138705165 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0205 | 1 | 206 | 0.0049 | -25 | c.153 others(42): Show |
PIK3CB | ENSG00000051382.9 | transcript | ENST00000674063.1 | protein_coding | 11/23 | chr3 | TogoVar | ||||||
PIK3CG_chr7_106860282_106913980 | 106907729 | TATATATA others(18): Show |
T | 3_prime_UTR_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0003 | a0002c0003t0040 | a0002c0003t0040g0110 | 1 | 378 | 0.0027 | -25 | c.*23 others(36): Show |
PIK3CG | ENSG00000105851.11 | transcript | ENST00000496166.6 | protein_coding | 11/11 | 2379 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
PIK3R4_chr3_130673934_130751829 | 130747251 | ATTTTTTT others(18): Show |
A | upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0130 | 1 | 304 | 0.0033 | -25 | c.-10 others(35): Show |
PIK3R4 | ENSG00000196455.8 | transcript | ENST00000356763.8 | protein_coding | 423 | chr3 | TogoVar | ||||||
PIK3R6_chr17_8797722_8872674 | 8827742 | GGAGAGAG others(18): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG02647.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019a0001c0001t0001g0231a0001c0001t0002g0044others(1): Show | 4 | 354 | 0.0113 | -25 | c.139 others(42): Show |
PIK3R6 | ENSG00000276231.5 | transcript | ENST00000619866.5 | protein_coding | 12/19 | chr17 | TogoVar | ||||||
PINK1_chr1_20628458_20656511 | 20630572 | GTTTATTC others(18): Show |
G | upstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0017 | 1 | 458 | 0.0022 | -25 | c.-29 others(36): Show |
PINK1 | ENSG00000158828.8 | transcript | ENST00000321556.5 | protein_coding | 2885 | chr1 | TogoVar | ||||||
PIP5K1B_chr9_68700240_69014176 | 68764510 | AAGCTTAA others(18): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0037a0001c0001t0002g0215 | 2 | 220 | 0.0091 | -25 | c.-86 others(44): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 2/15 | chr9 | TogoVar | ||||||
PIP5K1B_chr9_68700240_69014176 | 68834646 | CTGGAGGT others(18): Show |
C | intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 220 | 0.0046 | -25 | c.69+ others(42): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PISD_chr22_31613491_31667215 | 31637155 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 328 | 0.0031 | -25 | c.321 others(44): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | ||||||
PISD_chr22_31613491_31667215 | 31637157 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02004.hp2 HG02055.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0016a0001c0001t0002g0021others(1): Show | 5 | 328 | 0.0152 | -25 | c.321 others(44): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar |