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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR5D18_chr11_55814630_55825571 | 55823246 | T | TATATATA others(29): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 434 | 0.0023 | 36 | c.*26 others(47): Show |
OR5D18 | ENSG00000186119.9 | transcript | ENST00000333976.7 | protein_coding | 2676 | chr11 | TogoVar | ||||||
OR6J1_chr14_22625929_22649352 | 22636225 | G | GCCCTCTC others(29): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0221 | 1 | 362 | 0.0028 | 36 | c.-27 others(53): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
OR6J1_chr14_22625929_22649352 | 22636430 | C | CTCTCCCT others(29): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0282 | 1 | 362 | 0.0028 | 36 | c.-27 others(53): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
OR6N1_chr1_158759236_158777195 | 158767418 | A | ATTTCCCC others(29): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0066 | 1 | 472 | 0.0021 | 36 | c.-18 others(51): Show |
OR6N1 | ENSG00000197403.5 | transcript | ENST00000641846.1 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
OR6Q1_chr11_58025953_58036906 | 58034735 | T | TTTCCTTC others(29): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01257.hp2 HG01258.hp1 others(16): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0008 | a0001c0001t0000a0002c0002t0000a0007c0008t0000 | a0001c0001t0000g0000a0002c0002t0000g0000a0007c0008t0000g0000 | 19 | 416 | 0.0457 | 36 | c.*28 others(47): Show |
OR6Q1 | ENSG00000279051.5 | transcript | ENST00000302622.4 | protein_coding | 2830 | chr11 | TogoVar | ||||||
OR6Q1_chr11_58025953_58036906 | 58034792 | C | CCCTTCCT others(29): Show |
downstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 416 | 0.0024 | 36 | c.*28 others(47): Show |
OR6Q1 | ENSG00000279051.5 | transcript | ENST00000302622.4 | protein_coding | 2887 | chr11 | TogoVar | ||||||
OR8B3_chr11_124390534_124404024 | 124401222 | C | CAGAGAGA others(29): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 452 | 0.0022 | 36 | c.-25 others(47): Show |
OR8B3 | ENSG00000284609.2 | transcript | ENST00000641139.1 | protein_coding | 2199 | chr11 | TogoVar | ||||||
OR8H2_chr11_56098687_56112658 | 56101843 | G | GTGCTGGA others(29): Show |
upstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 452 | 0.0022 | 36 | c.-23 others(47): Show |
OR8H2 | ENSG00000181767.3 | transcript | ENST00000313503.2 | protein_coding | 1843 | chr11 | TogoVar | ||||||
OR9Q1_chr11_58018881_58186616 | 58034735 | T | TTTCCTTC others(29): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01257.hp1 HG01258.hp2 others(11): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0071a0001c0001t0001g0072others(10): Show | 14 | 324 | 0.0432 | 36 | c.-93 others(55): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ORC3_chr6_87585135_87672451 | 87644079 | C | CTTTTTTT others(29): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 378 | 0.0027 | 36 | c.138 others(55): Show |
ORC3 | ENSG00000135336.16 | transcript | ENST00000392844.8 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
OSBP2_chr22_30689874_30912813 | 30730774 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0001a0002 | a0001c0003a0002c0017 | a0001c0003t0002a0002c0017t0001 | a0001c0003t0002g0187a0002c0017t0001g0188 | 2 | 268 | 0.0075 | 36 | c.645 others(55): Show |
OSBP2 | ENSG00000184792.16 | transcript | ENST00000332585.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
OSBPL10_chr3_31655825_31986262 | 31740857 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0144a0001c0001t0002g0140a0001c0001t0006g0186others(1): Show | 4 | 186 | 0.0215 | 36 | c.940 others(53): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 5/11 | chr3 | TogoVar | ||||||
OSBPL10_chr3_31655825_31986262 | 31740857 | T | TTTTATAT others(29): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 186 | 0.0054 | 36 | c.940 others(53): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 5/11 | chr3 | TogoVar | ||||||
OSBPL11_chr3_125523858_125600497 | 125565796 | G | GGAATGCC others(29): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0206 | 1 | 340 | 0.0029 | 36 | c.868 others(53): Show |
OSBPL11 | ENSG00000144909.8 | transcript | ENST00000296220.6 | protein_coding | 6/12 | chr3 | TogoVar | ||||||
OSBPL1A_chr18_24157052_24402824 | 24175109 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0200 | 1 | 206 | 0.0049 | 36 | c.209 others(55): Show |
OSBPL1A | ENSG00000141447.19 | transcript | ENST00000319481.8 | protein_coding | 21/27 | chr18 | TogoVar | ||||||
OSBPL3_chr7_24791540_24985178 | 24901265 | G | GAGATGGC others(29): Show |
intron_variant | MODIFIER | HG02717.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105a0001c0001t0001g0106 | 2 | 326 | 0.0061 | 36 | c.-14 others(55): Show |
OSBPL3 | ENSG00000070882.13 | transcript | ENST00000313367.7 | protein_coding | 1/22 | chr7 | TogoVar | ||||||
OSBPL6_chr2_178189512_178407893 | 178208766 | G | GTCCTTCC others(29): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 200 | 0.0050 | 36 | c.-35 others(57): Show |
OSBPL6 | ENSG00000079156.17 | transcript | ENST00000190611.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
OSCAR_chr19_54089668_54105803 | 54089940 | G | GTTTTTTT others(29): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00544.hp1 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0033a0001c0001t0001g0052others(14): Show | 20 | 443 | 0.0452 | 36 | c.*52 others(47): Show |
OSCAR | ENSG00000170909.14 | transcript | ENST00000358375.9 | protein_coding | 4727 | chr19 | TogoVar | ||||||
OSCAR_chr19_54089668_54105803 | 54095546 | T | TCAGGAAG others(29): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02040.hp1 HG02055.hp1 others(24): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0015a0001c0001t0001g0115a0001c0001t0001g0129others(23): Show | 27 | 443 | 0.0610 | 36 | c.656 others(51): Show |
OSCAR | ENSG00000170909.14 | transcript | ENST00000358375.9 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
OSCAR_chr19_54089668_54105803 | 54101538 | T | TCAGATAG others(29): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00673.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0012others(17): Show | 21 | 443 | 0.0474 | 36 | c.-74 others(45): Show |
OSCAR | ENSG00000170909.14 | transcript | ENST00000358375.9 | protein_coding | 736 | chr19 | TogoVar | ||||||
OSCAR_chr19_54089668_54105803 | 54101538 | T | TTAGATAG others(29): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG01081.hp2 HG01123.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0002c0002t0001 | a0001c0001t0001g0143a0001c0001t0001g0146a0001c0001t0001g0173others(5): Show | 8 | 443 | 0.0181 | 36 | c.-74 others(45): Show |
OSCAR | ENSG00000170909.14 | transcript | ENST00000358375.9 | protein_coding | 736 | chr19 | TogoVar | ||||||
OSCP1_chr1_36412906_36455451 | 36427299 | C | CTTTTTTT others(29): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0300 | 1 | 380 | 0.0026 | 36 | c.517 others(53): Show |
OSCP1 | ENSG00000116885.18 | transcript | ENST00000235532.9 | protein_coding | 4/9 | chr1 | TogoVar | ||||||
OSGEPL1_chr2_189741660_189767792 | 189744990 | T | TCTACTAC others(29): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG02572.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0004a0001c0001t0001g0083a0002c0003t0001g0010 | 5 | 358 | 0.0140 | 36 | c.*21 others(47): Show |
OSGEPL1 | ENSG00000128694.12 | transcript | ENST00000264151.10 | protein_coding | 1669 | chr2 | TogoVar | ||||||
OSGEPL1_chr2_189741660_189767792 | 189745027 | C | CTACTACT others(29): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0075 | 1 | 358 | 0.0028 | 36 | c.*21 others(47): Show |
OSGEPL1 | ENSG00000128694.12 | transcript | ENST00000264151.10 | protein_coding | 1632 | chr2 | TogoVar | ||||||
OSGEPL1_chr2_189741660_189767792 | 189745027 | C | CTACTACT others(29): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023 | 1 | 358 | 0.0028 | 36 | c.*21 others(47): Show |
OSGEPL1 | ENSG00000128694.12 | transcript | ENST00000264151.10 | protein_coding | 1632 | chr2 | TogoVar | ||||||
OSGEPL1_chr2_189741660_189767792 | 189745027 | C | CTACTACT others(29): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0073 | 1 | 358 | 0.0028 | 36 | c.*21 others(47): Show |
OSGEPL1 | ENSG00000128694.12 | transcript | ENST00000264151.10 | protein_coding | 1632 | chr2 | TogoVar | ||||||
OSGEPL1_chr2_189741660_189767792 | 189745027 | C | CTACTACT others(29): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 358 | 0.0028 | 36 | c.*21 others(47): Show |
OSGEPL1 | ENSG00000128694.12 | transcript | ENST00000264151.10 | protein_coding | 1632 | chr2 | TogoVar | ||||||
OSGIN1_chr16_83948240_83971332 | 83950806 | T | TACACACA others(29): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 HG02083.hp1 HG04204.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0004 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0004t0004g0124 | 3 | 350 | 0.0086 | 36 | c.-25 others(47): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2433 | chr16 | TogoVar | ||||||
OSTF1_chr9_75083514_75152265 | 75139027 | C | CTTCTTTC others(29): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02040.hp1 HG02683.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0018 | a0001c0001t0002g0073a0001c0001t0002g0090a0001c0001t0002g0123others(5): Show | 8 | 366 | 0.0219 | 36 | c.487 others(53): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OTOA_chr16_21658968_21765729 | 21695891 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 320 | 0.0031 | 36 | c.740 others(53): Show |
OTOA | ENSG00000155719.18 | transcript | ENST00000646100.2 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
OTOA_chr16_21658968_21765729 | 21714300 | T | TCTTCCTT others(29): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0312 | 1 | 320 | 0.0031 | 36 | c.132 others(53): Show |
OTOA | ENSG00000155719.18 | transcript | ENST00000646100.2 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
OTOF_chr2_26452203_26483124 | 26476535 | C | CCCCTTCC others(29): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0049 | 1 | 330 | 0.0030 | 36 | c.436 others(51): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 5/28 | chr2 | TogoVar | ||||||
OTOF_chr2_26452203_26483124 | 26476697 | T | TCCCCACC others(29): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01167.hp2 |
a0005 | a0005c0017 | a0005c0017t0001 | a0005c0017t0001g0025 | 2 | 330 | 0.0061 | 36 | c.435 others(51): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 5/28 | chr2 | TogoVar | ||||||
OTOF_chr2_26452203_26563756 | 26476535 | C | CCCCTTCC others(29): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0181 | 1 | 284 | 0.0035 | 36 | c.267 others(53): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000272371.7 | protein_coding | 22/46 | chr2 | TogoVar | ||||||
OTOF_chr2_26452203_26563756 | 26476697 | T | TCCCCACC others(29): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01167.hp2 |
a0012 | a0012c0031 | a0012c0031t0001 | a0012c0031t0001g0175a0012c0031t0001g0177 | 2 | 284 | 0.0070 | 36 | c.267 others(53): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000272371.7 | protein_coding | 22/46 | chr2 | TogoVar | ||||||
OTOG_chr11_17542259_17651044 | 17552531 | C | CCCCACCT others(29): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01123.hp2 HG02080.hp1 others(18): Show |
a0011a0015a0017others(15): Show | a0011c0011a0015c0012a0017c0034others(15): Show | a0011c0011t0001a0015c0012t0001a0017c0034t0001others(15): Show | a0011c0011t0001g0146a0015c0012t0001g0133a0015c0012t0001g0134others(17): Show | 21 | 268 | 0.0784 | 36 | c.292 others(51): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OTUD7A_chr15_31470398_31875673 | 31564387 | G | GTTTTTTT others(29): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18993.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0166a0001c0002t0001g0199 | 2 | 244 | 0.0082 | 36 | c.332 others(53): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 4/12 | chr15 | TogoVar | ||||||
OTUD7A_chr15_31470398_31875673 | 31753704 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0142 | 1 | 244 | 0.0041 | 36 | c.-99 others(55): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
OTUD7A_chr15_31470398_31875673 | 31860622 | G | GATAAATA others(29): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01884.hp2 HG02109.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0037a0001c0001t0079others(2): Show | a0001c0001t0005g0049a0001c0001t0037g0080a0001c0001t0079g0047others(3): Show | 6 | 244 | 0.0246 | 36 | c.-10 others(55): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
OTULIN_chr5_14659718_14704850 | 14662911 | G | GGAAAAGA others(29): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 354 | 0.0028 | 36 | c.-19 others(47): Show |
OTULIN | ENSG00000154124.6 | transcript | ENST00000284274.5 | protein_coding | 1806 | chr5 | TogoVar | ||||||
OXCT1_chr5_41725065_41875425 | 41859891 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01255.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0092a0001c0001t0001g0093others(1): Show | 4 | 200 | 0.0200 | 36 | c.278 others(53): Show |
OXCT1 | ENSG00000083720.13 | transcript | ENST00000196371.10 | protein_coding | 3/16 | chr5 | TogoVar | ||||||
OXSR1_chr3_38160537_38260484 | 38162100 | C | CATATTTC others(29): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0105a0001c0001t0004g0019 | 2 | 248 | 0.0081 | 36 | c.-37 others(47): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 3436 | chr3 | TogoVar | ||||||
P2RX1_chr17_3891592_3921465 | 3911021 | C | CCTCCAGG others(29): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0117 | 1 | 378 | 0.0027 | 36 | c.137 others(53): Show |
P2RX1 | ENSG00000108405.4 | transcript | ENST00000225538.4 | protein_coding | 1/11 | chr17 | TogoVar | ||||||
P2RX2_chr12_132613776_132627388 | 132618228 | A | AAAAGAAA others(29): Show |
upstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 386 | 0.0026 | 36 | c.-58 others(45): Show |
P2RX2 | ENSG00000187848.15 | transcript | ENST00000643471.2 | protein_coding | 547 | chr12 | TogoVar | ||||||
P2RX2_chr12_132613776_132627388 | 132618231 | A | AAAAGAAA others(29): Show |
upstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 386 | 0.0026 | 36 | c.-58 others(45): Show |
P2RX2 | ENSG00000187848.15 | transcript | ENST00000643471.2 | protein_coding | 544 | chr12 | TogoVar | ||||||
P2RX2_chr12_132613776_132627388 | 132618232 | A | AAAAGAAA others(29): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG01256.hp1 HG02056.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 386 | 0.0104 | 36 | c.-58 others(45): Show |
P2RX2 | ENSG00000187848.15 | transcript | ENST00000643471.2 | protein_coding | 543 | chr12 | TogoVar | ||||||
P2RX7_chr12_121127876_121193032 | 121130820 | A | AGAAAGAA others(29): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG04199.hp1 |
a0008a0029 | a0008c0007a0029c0037 | a0008c0007t0002a0029c0037t0001 | a0008c0007t0002g0305a0029c0037t0001g0306 | 2 | 366 | 0.0055 | 36 | c.-21 others(47): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 2055 | chr12 | TogoVar | ||||||
P2RX7_chr12_121127876_121193032 | 121136023 | A | AAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG03516.hp1 NA19080.hp1 |
a0002a0007 | a0002c0002a0007c0008 | a0002c0002t0001a0007c0008t0001 | a0002c0002t0001g0295a0007c0008t0001g0296 | 2 | 366 | 0.0055 | 36 | c.125 others(53): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
P2RX7_chr12_121127876_121193032 | 121136023 | A | AAAAAAAA others(29): Show |
intron_variant | MODIFIER | NA19004.hp2 NA19079.hp2 |
a0002a0008 | a0002c0002a0008c0007 | a0002c0002t0003a0008c0007t0002 | a0002c0002t0003g0317a0008c0007t0002g0316 | 2 | 366 | 0.0055 | 36 | c.125 others(53): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
P2RX7_chr12_121127876_121193032 | 121136023 | A | AAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03669.hp2 |
a0008a0017 | a0008c0007a0017c0020 | a0008c0007t0002a0017c0020t0002 | a0008c0007t0002g0334a0017c0020t0002g0335 | 2 | 366 | 0.0055 | 36 | c.125 others(53): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |