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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDZRN4_chr12_41183320_41579745 | 41383969 | ATTTTTTT others(20): Show |
A | intron_variant | MODIFIER | HG02257.hp1 NA18612.hp1 NA18942.hp2 others(9): Show |
a0001a0002a0006others(1): Show | a0001c0011a0002c0019a0006c0007others(1): Show | a0001c0011t0003a0002c0019t0003a0006c0007t0003others(1): Show | a0001c0011t0003g0034 a0001c0011t0003g0038 a0001c0011t0003g0052 others(9): Show |
12 | 13 | 0.9231 | -27 | c.844 others(48): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402089 | AATATATA others(20): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp2 |
a0009 | a0009c0021 | a0009c0021t0001 | a0009c0021t0001g0142 a0009c0021t0001g0143 |
2 | 177 | 0.0113 | -27 | c.844 others(48): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402296 | TATACACA others(20): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02647.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002others(3): Show | a0001c0001t0001a0001c0010t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0113 a0001c0010t0004g0118 a0002c0002t0001g0199 others(3): Show |
6 | 204 | 0.0294 | -27 | c.844 others(48): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402514 | GTGTATAT others(20): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02647.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0001a0001c0010t0004a0002c0002t0001others(4): Show | a0001c0001t0001g0113 a0001c0010t0004g0118 a0002c0002t0001g0199 others(4): Show |
7 | 191 | 0.0366 | -27 | c.844 others(48): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEBP4_chr8_22708251_22932914 | 22839854 | CCAAACCC others(20): Show |
C | intron_variant | MODIFIER | HG00733.hp1 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0078 | 1 | 276 | 0.0036 | -27 | c.259 others(46): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
PEG3_chr19_56805082_56845726 | 56845326 | TTGAAAGG others(20): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(106): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0003a0001c0039others(10): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0015others(20): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(60): Show |
109 | 414 | 0.2633 | -27 | c.-50 others(38): Show |
PEG3 | ENSG00000198300.14 | transcript | ENST00000326441.15 | protein_coding | 4601 | chr19 | TogoVar | |||||||
PEMT_chr17_17500563_17596708 | 17547657 | CTCCTCCT others(20): Show |
C | intron_variant | MODIFIER | HG00423.hp2 NA18612.hp2 NA18952.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0099 others(3): Show |
6 | 346 | 0.0173 | -27 | c.205 others(46): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 2/6 | chr17 | TogoVar | |||||||
PER2_chr2_238239044_238293610 | 238288941 | CGCACATG others(20): Show |
C | upstream_gene_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 | 1 | 368 | 0.0027 | -27 | c.-63 others(36): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 332 | chr2 | TogoVar | |||||||
PER2_chr2_238239044_238293610 | 238289519 | GAAAGAAA others(20): Show |
G | upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0305 | 1 | 368 | 0.0027 | -27 | c.-12 others(38): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 910 | chr2 | TogoVar | |||||||
PER2_chr2_238239044_238293610 | 238290127 | GGTGTGTG others(20): Show |
G | upstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 368 | 0.0027 | -27 | c.-18 others(38): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 1518 | chr2 | TogoVar | |||||||
PER2_chr2_238239044_238293610 | 238292519 | TAGAATGG others(20): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0195 | 1 | 368 | 0.0027 | -27 | c.-42 others(38): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 3910 | chr2 | TogoVar | |||||||
PER2_chr2_238239044_238293610 | 238292814 | TGCAACCT others(20): Show |
T | upstream_gene_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 1 | 368 | 0.0027 | -27 | c.-45 others(38): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 4205 | chr2 | TogoVar | |||||||
PER2_chr2_238239044_238293610 | 238292981 | CCGCCTCG others(20): Show |
C | upstream_gene_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0214 | 1 | 368 | 0.0027 | -27 | c.-46 others(38): Show |
PER2 | ENSG00000132326.13 | transcript | ENST00000254657.8 | protein_coding | 4372 | chr2 | TogoVar | |||||||
PERCC1_chr16_1426078_1439441 | 1428251 | TGTCGGTG others(20): Show |
T | upstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0002 | 1 | 376 | 0.0027 | -27 | c.-29 others(38): Show |
PERCC1 | ENSG00000284395.2 | transcript | ENST00000640283.2 | protein_coding | 2826 | chr16 | TogoVar | |||||||
PEX14_chr1_10469950_10635758 | 10577548 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02723.hp1 NA19085.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0239 a0001c0003t0001g0132 |
2 | 232 | 0.0086 | -27 | c.170 others(46): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX14_chr1_10469950_10635758 | 10577550 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02886.hp1 NA20905.hp2 |
a0001 | a0001c0003a0001c0017 | a0001c0003t0001a0001c0017t0001 | a0001c0003t0001g0133 a0001c0017t0001g0130 |
2 | 227 | 0.0088 | -27 | c.170 others(46): Show |
PEX14 | ENSG00000142655.13 | transcript | ENST00000356607.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7196451 | TATGTGTC others(20): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0006 a0001c0001t0008g0214 a0001c0001t0008g0215 |
8 | 426 | 0.0188 | -27 | c.449 others(44): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PF4V1_chr4_73848296_73859483 | 73855079 | ATATATAT others(20): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 414 | 0.0048 | -27 | c.*95 others(36): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 597 | chr4 | TogoVar | |||||||
PF4V1_chr4_73848296_73859483 | 73855081 | ATATATAT others(20): Show |
A | downstream_gene_variant | MODIFIER | NA18941.hp1 NA18968.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 301 | 0.0100 | -27 | c.*96 others(36): Show |
PF4V1 | ENSG00000109272.4 | transcript | ENST00000226524.4 | protein_coding | 599 | chr4 | TogoVar | |||||||
PF4_chr4_73975811_73987027 | 73982164 | CAAAAAAA others(20): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp1 HG02559.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0002g0003 |
5 | 29 | 0.1724 | -27 | c.-23 others(36): Show |
PF4 | ENSG00000163737.5 | transcript | ENST00000296029.4 | protein_coding | 138 | chr4 | TogoVar | |||||||
PFKFB3_chr10_6197932_6240532 | 6215432 | ATAAGGCT others(20): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0382 | 1 | 430 | 0.0023 | -27 | c.299 others(42): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKL_chr21_44295053_44332373 | 44315933 | AGGGCCCA others(20): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0066 | 1 | 390 | 0.0026 | -27 | c.748 others(42): Show |
PFKL | ENSG00000141959.17 | transcript | ENST00000349048.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3105600 | TTCTCTGT others(20): Show |
T | intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0265 | 1 | 400 | 0.0025 | -27 | c.774 others(42): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFN3_chr5_177395109_177405661 | 177396461 | GCTCTCCC others(20): Show |
G | downstream_gene_variant | MODIFIER | HG01981.hp1 HG02630.hp1 HG02818.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000 a0001c0001t0002g0000 |
11 | 407 | 0.0270 | -27 | c.*36 others(38): Show |
PFN3 | ENSG00000196570.3 | transcript | ENST00000358571.3 | protein_coding | 3647 | chr5 | TogoVar | |||||||
PFN3_chr5_177395109_177405661 | 177396515 | TCTCTCCC others(20): Show |
T | downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 411 | 0.0024 | -27 | c.*36 others(38): Show |
PFN3 | ENSG00000196570.3 | transcript | ENST00000358571.3 | protein_coding | 3593 | chr5 | TogoVar | |||||||
PFN3_chr5_177395109_177405661 | 177396542 | GCTCTCCC others(20): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp2 HG03471.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 408 | 0.0074 | -27 | c.*35 others(38): Show |
PFN3 | ENSG00000196570.3 | transcript | ENST00000358571.3 | protein_coding | 3566 | chr5 | TogoVar | |||||||
PFN3_chr5_177395109_177405661 | 177396619 | ATCCGCTC others(20): Show |
A | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 402 | 0.0025 | -27 | c.*35 others(38): Show |
PFN3 | ENSG00000196570.3 | transcript | ENST00000358571.3 | protein_coding | 3489 | chr5 | TogoVar | |||||||
PGLYRP4_chr1_153325120_153353841 | 153350628 | GAAAGGAA others(20): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0030 others(3): Show |
15 | 210 | 0.0714 | -27 | c.-21 others(38): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 1788 | chr1 | TogoVar | |||||||
PGM5_chr9_68351611_68536061 | 68482655 | TCCTCCAA others(20): Show |
T | intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0068 | 1 | 244 | 0.0041 | -27 | c.129 others(46): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13224645 | CAGCAGGG others(20): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01175.hp1 HG01993.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 others(5): Show |
8 | 108 | 0.0741 | -27 | c.987 others(44): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143813794 | ATGTTGAG others(20): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0196 | 1 | 308 | 0.0032 | -27 | c.192 others(46): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22209726 | GCTCCCTC others(20): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0173 | 1 | 229 | 0.0044 | -27 | c.164 others(46): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHEX_chrX_22027325_22256310 | 22209735 | GCTCCCTC others(20): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0042 | a0001c0001t0025g0039 a0001c0001t0025g0043 a0001c0001t0042g0164 |
3 | 213 | 0.0141 | -27 | c.164 others(46): Show |
PHEX | ENSG00000102174.10 | transcript | ENST00000379374.5 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PHF11_chr13_49490953_49533976 | 49513403 | TCACTGCA others(20): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 412 | 0.0024 | -27 | c.324 others(42): Show |
PHF11 | ENSG00000136147.18 | transcript | ENST00000378319.8 | protein_coding | 3/9 | chr13 | TogoVar | |||||||
PHF13_chr1_6608731_6629030 | 6615072 | GGCTGCCG others(20): Show |
G | intron_variant | MODIFIER | NA18968.hp1 NA18993.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 |
3 | 410 | 0.0073 | -27 | c.39+ others(40): Show |
PHF13 | ENSG00000116273.6 | transcript | ENST00000377648.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 44884245 | TCACCACC others(20): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01192.hp1 HG01943.hp2 others(16): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0005a0001c0002t0006a0001c0002t0014others(1): Show | a0001c0002t0005g0068 a0001c0002t0005g0257 a0001c0002t0005g0258 others(16): Show |
19 | 297 | 0.0640 | -27 | c.137 others(44): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 12/12 | chr22 | TogoVar | |||||||
PHF23_chr17_7230038_7244457 | 7243271 | AGGTTTCT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02630.hp2 HG02976.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0022 a0001c0003t0001g0017 a0001c0003t0001g0030 |
7 | 391 | 0.0179 | -27 | c.-40 others(38): Show |
PHF23 | ENSG00000040633.13 | transcript | ENST00000320316.8 | protein_coding | 3815 | chr17 | TogoVar | |||||||
PHKG2_chr16_30743425_30766176 | 30748999 | GGGTGGTG others(20): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0118 | 1 | 136 | 0.0074 | -27 | c.95+ others(40): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PHKG2_chr16_30743425_30766176 | 30749070 | GTGGTGGT others(20): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 224 | 0.0045 | -27 | c.95+ others(40): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PHOSPHO1_chr17_49218366_49235787 | 49228270 | TTCCTTCC others(20): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG02717.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0026 a0001c0001t0002g0009 a0001c0001t0003g0012 |
5 | 418 | 0.0120 | -27 | c.-67 others(44): Show |
PHOSPHO1 | ENSG00000173868.12 | transcript | ENST00000310544.9 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
PI4K2A_chr10_97635671_97681434 | 97678910 | TGTGTGTG others(20): Show |
T | downstream_gene_variant | MODIFIER | HG03710.hp2 NA19090.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0012 a0001c0002t0002g0085 |
2 | 282 | 0.0071 | -27 | c.*51 others(38): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2477 | chr10 | TogoVar | |||||||
PI4K2A_chr10_97635671_97681434 | 97678912 | TGTGTGTG others(20): Show |
T | downstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 344 | 0.0029 | -27 | c.*51 others(38): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2479 | chr10 | TogoVar | |||||||
PIBF1_chr13_72777133_73021461 | 72790485 | CCCTTATA others(20): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0317 | 1 | 344 | 0.0029 | -27 | c.253 others(44): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 2/17 | chr13 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88714229 | TGTGGGTG others(20): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp2 |
a0024 | a0024c0028 | a0024c0028t0001a0024c0028t0010 | a0024c0028t0001g0221 a0024c0028t0010g0003 |
2 | 280 | 0.0071 | -27 | c.*13 others(38): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 1108 | chr16 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88735283 | GCCCAGCA others(20): Show |
G | intron_variant | MODIFIER | HG03139.hp1 | a0027 | a0027c0034 | a0027c0034t0023 | a0027c0034t0023g0277 | 1 | 280 | 0.0036 | -27 | c.155 others(42): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 12/50 | chr16 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10731175 | GATTATAT others(20): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(60): Show |
a0001a0002a0004others(16): Show | a0001c0006a0001c0007a0002c0001others(34): Show | a0001c0006t0001a0001c0007t0001a0002c0001t0001others(38): Show | a0001c0006t0001g0100 a0001c0006t0001g0139 a0001c0007t0001g0114 others(60): Show |
63 | 114 | 0.5526 | -27 | c.502 others(44): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10944490 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0063 | 1 | 158 | 0.0063 | -27 | c.287 others(46): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 3/55 | chr18 | TogoVar | |||||||
PIGK_chr1_77083989_77224430 | 77222556 | TGCACCCA others(20): Show |
T | upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 364 | 0.0027 | -27 | c.-31 others(38): Show |
PIGK | ENSG00000142892.15 | transcript | ENST00000370812.8 | protein_coding | 3127 | chr1 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631758 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | NA18960.hp2 NA18973.hp2 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 a0001c0001t0001g0307 a0001c0001t0001g0312 |
3 | 317 | 0.0095 | -27 | c.529 others(44): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34631759 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | NA18985.hp1 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 a0001c0001t0001g0308 |
2 | 303 | 0.0066 | -27 | c.529 others(44): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 6/11 | chr20 | TogoVar |