| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PLK5_chr19_1519077_1541046 | 1528627 | CCCCACCT others(10): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(147): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0016a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(104): Show | 150 | 430 | 0.3488 | -17 | c.329 others(32): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| PLK5_chr19_1519077_1541046 | 1528671 | CCACACCT others(10): Show |
C | intron_variant | MODIFIER | NA18970.hp1 NA19007.hp1 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0016 | 2 | 430 | 0.0047 | -17 | c.329 others(32): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| PLLP_chr16_57251097_57289672 | 57261149 | GGCTAATT others(10): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00621.hp2 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0218a0001c0001t0001g0238a0001c0001t0002g0005others(45): Show | 62 | 370 | 0.1676 | -17 | c.309 others(32): Show |
PLLP | ENSG00000102934.10 | transcript | ENST00000219207.10 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
| PLPP1_chr5_55419854_55539964 | 55512507 | AAAAGAAA others(10): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 294 | 0.0034 | -17 | c.58+ others(34): Show |
PLPP1 | ENSG00000067113.17 | transcript | ENST00000307259.9 | protein_coding | 1/5 | chr5 | TogoVar | ||||||
| PLPP5_chr8_38258130_38274224 | 38268064 | CAACCAGG others(10): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 324 | 0.0031 | -17 | c.275 others(32): Show |
PLPP5 | ENSG00000147535.17 | transcript | ENST00000424479.7 | protein_coding | 3/6 | chr8 | TogoVar | ||||||
| PLPP6_chr9_4657294_4670258 | 4668058 | TTTCCTCA others(10): Show |
T | downstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 478 | 0.0021 | -17 | c.*47 others(28): Show |
PLPP6 | ENSG00000205808.7 | transcript | ENST00000381883.5 | protein_coding | 2801 | chr9 | TogoVar | ||||||
| PLPPR1_chr9_101023727_101330135 | 101078171 | AAGAAGAA others(10): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG02300.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0032a0001c0001t0002g0018a0001c0001t0002g0027others(1): Show | 4 | 203 | 0.0197 | -17 | c.-46 others(36): Show |
PLPPR1 | ENSG00000148123.15 | transcript | ENST00000374874.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PLPPR3_chr19_807488_826955 | 808771 | TGGGCCGG others(10): Show |
T | downstream_gene_variant | MODIFIER | HG04184.hp2 | a0000 | a0000c0019 | a0000c0019t0001 | a0000c0019t0001g0168 | 1 | 398 | 0.0025 | -17 | c.*37 others(28): Show |
PLPPR3 | ENSG00000129951.19 | transcript | ENST00000520876.8 | protein_coding | 3716 | chr19 | TogoVar | ||||||
| PLPPR4_chr1_99259492_99314584 | 99259932 | TGCTTTTT others(10): Show |
T | upstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0274 | 1 | 384 | 0.0026 | -17 | c.-46 others(28): Show |
PLPPR4 | ENSG00000117600.14 | transcript | ENST00000370185.9 | protein_coding | 4559 | chr1 | TogoVar | ||||||
| PLS1_chr3_142591393_142718664 | 142600895 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02630.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0131a0001c0001t0008g0130 | 2 | 276 | 0.0073 | -17 | c.-37 others(34): Show |
PLS1 | ENSG00000120756.13 | transcript | ENST00000457734.7 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
| PLS1_chr3_142591393_142718664 | 142600899 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0112a0001c0001t0004g0113 | 2 | 276 | 0.0073 | -17 | c.-37 others(34): Show |
PLS1 | ENSG00000120756.13 | transcript | ENST00000457734.7 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
| PLS1_chr3_142591393_142718664 | 142600900 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 | 1 | 276 | 0.0036 | -17 | c.-37 others(34): Show |
PLS1 | ENSG00000120756.13 | transcript | ENST00000457734.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PLS1_chr3_142591393_142718664 | 142663696 | ACATGGGG others(10): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01123.hp1 HG01884.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0149a0001c0001t0001g0262a0001c0001t0001g0271others(14): Show | 17 | 276 | 0.0616 | -17 | c.-36 others(32): Show |
PLS1 | ENSG00000120756.13 | transcript | ENST00000457734.7 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
| PLS3_chrX_115556174_115655861 | 115620690 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0172 | 1 | 254 | 0.0039 | -17 | c.74- others(32): Show |
PLS3 | ENSG00000102024.19 | transcript | ENST00000355899.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PLVAP_chr19_17346455_17382342 | 17379909 | TTTTGTTT others(10): Show |
T | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01192.hp2 HG02145.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0008a0001c0001t0002g0018a0001c0001t0002g0096others(6): Show | 9 | 436 | 0.0206 | -17 | c.-26 others(28): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2568 | chr19 | TogoVar | ||||||
| PLVAP_chr19_17346455_17382342 | 17381457 | ATTTTTTT others(10): Show |
A | upstream_gene_variant | MODIFIER | HG02698.hp2 NA18949.hp2 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0221a0001c0001t0001g0222a0001c0001t0003g0245 | 3 | 436 | 0.0069 | -17 | c.-41 others(28): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 4116 | chr19 | TogoVar | ||||||
| PLXDC2_chr10_19811432_20294856 | 20044273 | CTTTCTTT others(10): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0069a0001c0001t0086 | a0001c0001t0069g0169a0001c0001t0086g0097 | 2 | 180 | 0.0111 | -17 | c.325 others(34): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PLXDC2_chr10_19811432_20294856 | 20287641 | ATGTTAAA others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0011 | 1 | 180 | 0.0056 | -17 | c.*78 others(28): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 14/14 | 7823 | chr10 | TogoVar | |||||
| PLXNA4_chr7_132118340_132581470 | 132178731 | CTTGTAAA others(10): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG02080.hp1 HG02257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0033others(1): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0013others(4): Show | a0001c0001t0003g0072a0001c0001t0010g0053a0001c0001t0013g0086others(5): Show | 8 | 88 | 0.0909 | -17 | c.387 others(34): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 20/31 | chr7 | TogoVar | ||||||
| PLXNA4_chr7_132118340_132581470 | 132282610 | GAAAAAAA others(10): Show |
G | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0025 | 1 | 88 | 0.0114 | -17 | c.150 others(38): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 4/31 | chr7 | TogoVar | ||||||
| PLXNB2_chr22_50269979_50312646 | 50307597 | GGCGCTGC others(10): Show |
G | 5_prime_UTR_variant | MODIFIER | NA18995.hp2 | a0003 | a0003c0001 | a0003c0001t0010 | a0003c0001t0010g0010 | 1 | 302 | 0.0033 | -17 | c.-13 others(26): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 1/37 | 17014 | chr22 | TogoVar | |||||
| PLXNC1_chr12_94143577_94312675 | 94201748 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | NA18989.hp2 NA18995.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0002 | a0001c0002t0001g0185a0001c0005t0002g0252 | 2 | 298 | 0.0067 | -17 | c.144 others(36): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PMPCB_chr7_103292435_103319686 | 103318529 | ACTATGGG others(10): Show |
A | downstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 436 | 0.0023 | -17 | c.*62 others(28): Show |
PMPCB | ENSG00000105819.15 | transcript | ENST00000249269.9 | protein_coding | 3844 | chr7 | TogoVar | ||||||
| PNCK_chrX_153664733_153678813 | 153677537 | CATAGTGT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 276 | 0.0036 | -17 | c.-37 others(28): Show |
PNCK | ENSG00000130822.16 | transcript | ENST00000340888.8 | protein_coding | 3725 | chrX | TogoVar | ||||||
| PNISR_chr6_99393050_99430308 | 99396144 | CTTGGGAG others(10): Show |
C | downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0062 | 1 | 406 | 0.0025 | -17 | c.*43 others(28): Show |
PNISR | ENSG00000132424.17 | transcript | ENST00000369239.10 | protein_coding | 1905 | chr6 | TogoVar | ||||||
| PNISR_chr6_99393050_99430308 | 99419174 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 406 | 0.0025 | -17 | c.-11 others(36): Show |
PNISR | ENSG00000132424.17 | transcript | ENST00000369239.10 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
| PNKP_chr19_49856204_49872576 | 49861541 | CAGGGGTC others(10): Show |
C | intron_variant | MODIFIER | NA19081.hp2 | a0014 | a0014c0012 | a0014c0012t0001 | a0014c0012t0001g0091 | 1 | 430 | 0.0023 | -17 | c.138 others(32): Show |
PNKP | ENSG00000039650.12 | transcript | ENST00000322344.8 | protein_coding | 15/16 | chr19 | TogoVar | ||||||
| PNMA6A_chrX_153067454_153080019 | 153068963 | AGAAGGGT others(10): Show |
A | upstream_gene_variant | MODIFIER | HG02129.hp1 | a0017 | a0017c0013 | a0017c0013t0011 | a0017c0013t0011g0013 | 1 | 86 | 0.0116 | -17 | c.-37 others(28): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 3490 | chrX | TogoVar | ||||||
| PNMA8B_chr19_46486191_46500867 | 46498944 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG01169.hp1 HG02080.hp1 NA18969.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002 | a0001c0001t0004g0000a0002c0002t0002g0000 | 3 | 426 | 0.0070 | -17 | c.-34 others(28): Show |
PNMA8B | ENSG00000204851.7 | transcript | ENST00000599531.2 | protein_coding | 3078 | chr19 | TogoVar | ||||||
| PNO1_chr2_68152888_68181238 | 68165366 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | NA18965.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0105 | 1 | 444 | 0.0023 | -17 | c.620 others(34): Show |
PNO1 | ENSG00000115946.8 | transcript | ENST00000263657.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PNPLA8_chr7_108465417_108531135 | 108470377 | AAAAAAAA others(10): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0005 | a0001c0005t0015 | a0001c0005t0015g0152 | 1 | 390 | 0.0026 | -17 | c.*20 others(28): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 39 | chr7 | TogoVar | ||||||
| PNPLA8_chr7_108465417_108531135 | 108505329 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG01993.hp2 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0327a0001c0001t0001g0328a0001c0001t0005g0138 | 3 | 390 | 0.0077 | -17 | c.120 others(36): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
| PNPLA8_chr7_108465417_108531135 | 108505331 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 390 | 0.0026 | -17 | c.120 others(36): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
| PNPLA8_chr7_108465417_108531135 | 108505333 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG03453.hp2 |
a0001 | a0001c0005a0001c0012 | a0001c0005t0015a0001c0012t0009 | a0001c0005t0015g0153a0001c0012t0009g0362 | 2 | 390 | 0.0051 | -17 | c.120 others(36): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
| PNPLA8_chr7_108465417_108531135 | 108505335 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0325 | 1 | 390 | 0.0026 | -17 | c.120 others(36): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
| PNPLA8_chr7_108465417_108531135 | 108505344 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 390 | 0.0026 | -17 | c.120 others(36): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
| PNPLA8_chr7_108465417_108531135 | 108505346 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0086 | 1 | 390 | 0.0026 | -17 | c.120 others(36): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
| PNPLA8_chr7_108465417_108531135 | 108505348 | ATATATTT others(10): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG02683.hp2 HG02698.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008a0001c0001t0002g0033a0001c0001t0002g0043others(2): Show | 6 | 390 | 0.0154 | -17 | c.120 others(36): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
| PNPT1_chr2_55629061_55698844 | 55630978 | CGGGAGGT others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(311): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0009others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(301): Show | 314 | 390 | 0.8051 | -17 | c.*52 others(28): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 3082 | chr2 | TogoVar | ||||||
| PNPT1_chr2_55629061_55698844 | 55657856 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0222 | 1 | 390 | 0.0026 | -17 | c.128 others(36): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 15/27 | chr2 | TogoVar | ||||||
| PNPT1_chr2_55629061_55698844 | 55691864 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0361 | 1 | 390 | 0.0026 | -17 | c.161 others(34): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
| POC1B_chr12_89414718_89531047 | 89528984 | GTTGAGAT others(10): Show |
G | upstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 370 | 0.0027 | -17 | c.-31 others(28): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 2938 | chr12 | TogoVar | ||||||
| PODNL1_chr19_13926187_13943417 | 13926920 | GGGACATA others(10): Show |
G | downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 432 | 0.0023 | -17 | c.*48 others(28): Show |
PODNL1 | ENSG00000132000.14 | transcript | ENST00000588872.3 | protein_coding | 4266 | chr19 | TogoVar | ||||||
| PODXL_chr7_131495271_131561628 | 131523694 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0012 | a0012c0032 | a0012c0032t0038 | a0012c0032t0038g0320 | 1 | 440 | 0.0023 | -17 | c.101 others(36): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
| POGLUT1_chr3_119463963_119499708 | 119495225 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 422 | 0.0024 | -17 | c.*27 others(28): Show |
POGLUT1 | ENSG00000163389.12 | transcript | ENST00000295588.9 | protein_coding | 518 | chr3 | TogoVar | ||||||
| POGZ_chr1_151397724_151464494 | 151459373 | CGGGGGGG others(10): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0006 | 1 | 320 | 0.0031 | -17 | c.-24 others(26): Show |
POGZ | ENSG00000143442.24 | transcript | ENST00000271715.7 | protein_coding | 1/19 | 17170 | chr1 | TogoVar | |||||
| POLA1_chrX_24688918_25001986 | 24806053 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG02040.hp1 HG04199.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168a0001c0001t0001g0176a0001c0001t0001g0181 | 3 | 197 | 0.0152 | -17 | c.296 others(36): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| POLB_chr8_42333494_42376808 | 42363527 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192a0001c0001t0001g0216 | 2 | 314 | 0.0064 | -17 | c.708 others(32): Show |
POLB | ENSG00000070501.12 | transcript | ENST00000265421.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| POLD3_chr11_74587582_74648076 | 74609364 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0040 | 1 | 400 | 0.0025 | -17 | c.220 others(34): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| POLDIP3_chr22_42578721_42619883 | 42603793 | CAAATACA others(10): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0040 | 1 | 360 | 0.0028 | -17 | c.60- others(30): Show |
POLDIP3 | ENSG00000100227.19 | transcript | ENST00000252115.10 | protein_coding | 1/8 | chr22 | TogoVar |