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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PANK3_chr5_168543495_168584368 | 168548035 | TACACACA others(5): Show |
T | downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0096 | 1 | 416 | 0.0024 | -12 | c.*95 others(23): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 459 | chr5 | TogoVar | ||||||
PANK3_chr5_168543495_168584368 | 168579041 | AAGGCTAG others(5): Show |
A | intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0332 | 1 | 416 | 0.0024 | -12 | c.28+ others(25): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 1/6 | chr5 | TogoVar | ||||||
PANK3_chr5_168543495_168584368 | 168582885 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0103 | 1 | 416 | 0.0024 | -12 | c.-36 others(23): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3518 | chr5 | TogoVar | ||||||
PANX3_chr11_124606428_124625356 | 124607336 | TAGAAAGA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02027.hp1 HG02055.hp1 HG02622.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(3): Show | 9 | 420 | 0.0214 | -12 | c.-42 others(23): Show |
PANX3 | ENSG00000154143.3 | transcript | ENST00000284288.3 | protein_coding | 4091 | chr11 | TogoVar | ||||||
PAOX_chr10_133374262_133396694 | 133390410 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 346 | 0.0029 | -12 | c.139 others(29): Show |
PAOX | ENSG00000148832.16 | transcript | ENST00000278060.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAPLN_chr14_73232506_73279623 | 73247796 | CCGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG03130.hp1 HG03710.hp2 |
a0001a0017 | a0001c0006a0017c0021 | a0001c0006t0004a0017c0021t0001a0017c0021t0022 | a0001c0006t0004g0374a0017c0021t0001g0269a0017c0021t0022g0272 | 3 | 418 | 0.0072 | -12 | c.334 others(29): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 5/26 | chr14 | TogoVar | ||||||
PAPLN_chr14_73232506_73279623 | 73247889 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(184): Show |
a0001a0002a0003others(20): Show | a0001c0003a0001c0004a0001c0006others(29): Show | a0001c0003t0001a0001c0003t0003a0001c0004t0001others(41): Show | a0001c0003t0001g0058a0001c0003t0001g0065a0001c0003t0001g0068others(176): Show | 187 | 418 | 0.4474 | -12 | c.334 others(29): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAPLN_chr14_73232506_73279623 | 73247984 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00609.hp1 others(74): Show |
a0001a0003a0010others(6): Show | a0001c0004a0003c0002a0003c0032others(10): Show | a0001c0004t0001a0003c0002t0001a0003c0002t0003others(18): Show | a0001c0004t0001g0056a0003c0002t0001g0006a0003c0002t0001g0007others(70): Show | 77 | 418 | 0.1842 | -12 | c.334 others(29): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAPLN_chr14_73232506_73279623 | 73257753 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0206 | 1 | 418 | 0.0024 | -12 | c.162 others(31): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAPOLA_chr14_96497382_96572116 | 96498395 | CTTTTTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 310 | 0.0032 | -12 | c.-41 others(23): Show |
PAPOLA | ENSG00000090060.19 | transcript | ENST00000216277.13 | protein_coding | 3986 | chr14 | TogoVar | ||||||
PAPOLA_chr14_96497382_96572116 | 96559550 | CCTCTCTC others(5): Show |
C | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 310 | 0.0032 | -12 | c.200 others(31): Show |
PAPOLA | ENSG00000090060.19 | transcript | ENST00000216277.13 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAPOLA_chr14_96497382_96572116 | 96570346 | TTGTGTGT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(4): Show | 7 | 310 | 0.0226 | -12 | c.*52 others(23): Show |
PAPOLA | ENSG00000090060.19 | transcript | ENST00000216277.13 | protein_coding | 3231 | chr14 | TogoVar | ||||||
PAPOLB_chr7_4852738_4867030 | 4855620 | TAAAAAAA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0000 | 1 | 438 | 0.0023 | -12 | c.*42 others(23): Show |
PAPOLB | ENSG00000218823.2 | transcript | ENST00000404991.2 | protein_coding | 2117 | chr7 | TogoVar | ||||||
PAPOLG_chr2_60751268_60807086 | 60804130 | TAAAAAAA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 328 | 0.0031 | -12 | c.*69 others(23): Show |
PAPOLG | ENSG00000115421.13 | transcript | ENST00000238714.8 | protein_coding | 2045 | chr2 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176545415 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02723.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0002 | a0001c0001t0002g0033a0001c0001t0004g0116a0001c0002t0002g0040 | 3 | 118 | 0.0254 | -12 | c.-91 others(31): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176554992 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0109 | 1 | 118 | 0.0085 | -12 | c.-91 others(29): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176569147 | TACACACC others(5): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0115 | 1 | 118 | 0.0085 | -12 | c.919 others(31): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176623564 | TTCCTTCC others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01074.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0017a0001c0001t0021others(10): Show | a0001c0001t0004g0077a0001c0001t0017g0107a0001c0001t0021g0071others(14): Show | 17 | 118 | 0.1441 | -12 | c.199 others(33): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176623758 | CCTTTCTT others(5): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0085 | 1 | 118 | 0.0085 | -12 | c.199 others(33): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176634799 | GAGATAGA others(5): Show |
G | intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0053 | 1 | 118 | 0.0085 | -12 | c.199 others(33): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176634837 | GATAGATA others(5): Show |
G | intron_variant | MODIFIER | HG01978.hp2 HG02572.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0037a0001c0001t0047 | a0001c0001t0004g0029a0001c0001t0037g0018a0001c0001t0047g0017 | 3 | 118 | 0.0254 | -12 | c.199 others(33): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176634857 | CATAGATA others(5): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0040 | 1 | 118 | 0.0085 | -12 | c.199 others(33): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176666561 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02083.hp1 HG03516.hp1 HG03688.hp1 others(3): Show |
a0001a0010 | a0001c0001a0001c0006a0010c0007 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0033a0001c0001t0004g0077a0001c0001t0005g0008others(3): Show | 6 | 118 | 0.0509 | -12 | c.199 others(31): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176678087 | GGAGAGCA others(5): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0022 | 1 | 118 | 0.0085 | -12 | c.213 others(31): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176735677 | AATCTATC others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0009a0001c0001t0001g0020a0001c0001t0001g0064others(26): Show | 29 | 118 | 0.2458 | -12 | c.379 others(31): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176796688 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG03831.hp1 | a0010 | a0010c0007 | a0010c0007t0002 | a0010c0007t0002g0088 | 1 | 118 | 0.0085 | -12 | c.513 others(31): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176809951 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG03688.hp2 HG03831.hp1 HG03831.hp2 |
a0001a0010 | a0001c0001a0010c0007 | a0001c0001t0001a0001c0001t0002a0010c0007t0002 | a0001c0001t0001g0103a0001c0001t0002g0072a0010c0007t0002g0088 | 3 | 118 | 0.0254 | -12 | c.520 others(31): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA2_chr1_176458175_176850601 | 176816152 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG02258.hp2 HG03195.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0005a0001c0001t0006a0001c0002t0036others(1): Show | a0001c0001t0005g0047a0001c0001t0006g0086a0001c0002t0036g0015others(1): Show | 4 | 118 | 0.0339 | -12 | c.520 others(33): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAPPA_chr9_116148791_116407321 | 116225806 | TATCCATC others(5): Show |
T | intron_variant | MODIFIER | HG01981.hp1 HG02717.hp2 HG03130.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0013others(3): Show | a0001c0001t0001g0036a0001c0001t0002g0013a0001c0002t0013g0012others(3): Show | 6 | 234 | 0.0256 | -12 | c.211 others(31): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PAPPA_chr9_116148791_116407321 | 116231660 | CGGATGGA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(45): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0054a0001c0001t0001g0110a0001c0001t0001g0111others(45): Show | 48 | 234 | 0.2051 | -12 | c.223 others(31): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PAPPA_chr9_116148791_116407321 | 116289121 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG02451.hp1 HG02572.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0011a0001c0002t0007a0001c0005t0005others(3): Show | a0001c0001t0011g0028a0001c0002t0007g0064a0001c0002t0007g0068others(4): Show | 7 | 234 | 0.0299 | -12 | c.295 others(33): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PAPPA_chr9_116148791_116407321 | 116289173 | AGCATATA others(5): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0004 | a0002c0004t0017 | a0002c0004t0017g0008 | 1 | 234 | 0.0043 | -12 | c.295 others(33): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 9/21 | chr9 | TogoVar | ||||||
PAPPA_chr9_116148791_116407321 | 116314060 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02818.hp1 HG02922.hp1 others(1): Show |
a0001a0002a0008 | a0001c0002a0001c0047a0002c0003others(1): Show | a0001c0002t0017a0001c0047t0002a0002c0003t0047others(1): Show | a0001c0002t0017g0042a0001c0047t0002g0015a0002c0003t0047g0073others(1): Show | 4 | 234 | 0.0171 | -12 | c.314 others(33): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PAPPA_chr9_116148791_116407321 | 116385234 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0211 | 1 | 234 | 0.0043 | -12 | c.477 others(31): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PAPSS1_chr4_107608666_107725234 | 107621608 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0229 | 1 | 276 | 0.0036 | -12 | c.173 others(31): Show |
PAPSS1 | ENSG00000138801.9 | transcript | ENST00000265174.5 | protein_coding | 11/11 | chr4 | TogoVar | ||||||
PAPSS2_chr10_87654878_87752705 | 87676872 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(110): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0031others(110): Show | 113 | 372 | 0.3038 | -12 | c.27+ others(29): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAPSS2_chr10_87654878_87752705 | 87701300 | TTTCCTTC others(5): Show |
T | intron_variant | MODIFIER | HG01515.hp2 HG02559.hp1 HG02572.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019a0001c0001t0047others(1): Show | a0001c0001t0001g0115a0001c0001t0001g0262a0001c0001t0019g0166others(2): Show | 5 | 372 | 0.0134 | -12 | c.28- others(27): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAPSS2_chr10_87654878_87752705 | 87701319 | CCTTCCTT others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00738.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0152a0001c0001t0001g0231a0001c0001t0001g0245others(32): Show | 35 | 372 | 0.0941 | -12 | c.28- others(27): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAPSS2_chr10_87654878_87752705 | 87701323 | CCTTCCTT others(5): Show |
C | intron_variant | MODIFIER | NA18960.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0311a0001c0001t0007g0349 | 2 | 372 | 0.0054 | -12 | c.28- others(27): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAPSS2_chr10_87654878_87752705 | 87701327 | CCTTTCTT others(5): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG01358.hp2 HG02083.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0038a0001c0001t0002g0043a0001c0001t0002g0087others(9): Show | 12 | 372 | 0.0323 | -12 | c.28- others(27): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAPSS2_chr10_87654878_87752705 | 87701388 | CTTTCTTT others(5): Show |
C | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0368 | 1 | 372 | 0.0027 | -12 | c.28- others(27): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAPSS2_chr10_87654878_87752705 | 87703276 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00639.hp2 others(62): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0050a0001c0001t0001g0143a0001c0001t0001g0152others(62): Show | 65 | 372 | 0.1747 | -12 | c.28- others(27): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69300590 | CTTCTTTC others(5): Show |
C | intron_variant | MODIFIER | HG02015.hp2 HG02080.hp2 NA18522.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0232a0001c0001t0002g0233a0001c0001t0004g0002others(2): Show | 5 | 284 | 0.0176 | -12 | c.-27 others(31): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69300841 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01167.hp1 HG02015.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0003t0003others(1): Show | a0001c0001t0001g0121a0001c0001t0001g0145a0001c0001t0001g0179others(8): Show | 11 | 284 | 0.0387 | -12 | c.-27 others(31): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69301859 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp1 HG02630.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0122a0001c0001t0002g0123a0001c0001t0002g0124others(9): Show | 12 | 284 | 0.0423 | -12 | c.-27 others(31): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69319158 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02809.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0019 | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0003g0005others(1): Show | 4 | 284 | 0.0141 | -12 | c.-27 others(33): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69322691 | GGAAGAAG others(5): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp1 HG02809.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0019 | a0001c0001t0001g0030a0001c0001t0001g0041a0001c0001t0002g0015others(1): Show | 4 | 284 | 0.0141 | -12 | c.-27 others(33): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69322762 | AAGAAGAA others(5): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240a0001c0001t0001g0241 | 2 | 284 | 0.0070 | -12 | c.-27 others(33): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69322772 | GGGAGAAG others(5): Show |
G | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0139 | 1 | 284 | 0.0035 | -12 | c.-27 others(33): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69322778 | AGAAGAAG others(5): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02965.hp2 NA18969.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0283a0001c0001t0002g0067a0001c0001t0002g0094others(3): Show | 6 | 284 | 0.0211 | -12 | c.-27 others(33): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |