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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP8A2_chr13_25366974_26030851 | 25465748 | C | CCTCCCTC others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02615.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0015a0001c0001t0019a0001c0001t0042others(2): Show | a0001c0001t0015g0082a0001c0001t0019g0004a0001c0001t0042g0059others(2): Show | 5 | 122 | 0.0410 | 8 | c.77- others(23): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25465783 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01175.hp2 others(1): Show |
a0001 | a0001c0004a0001c0019 | a0001c0004t0002a0001c0004t0004a0001c0019t0007 | a0001c0004t0002g0049a0001c0004t0002g0080a0001c0004t0004g0048others(1): Show | 4 | 122 | 0.0328 | 8 | c.77- others(23): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25506940 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01175.hp1 HG01261.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0020 | a0001c0001t0004a0001c0001t0042a0001c0001t0051others(4): Show | a0001c0001t0004g0046a0001c0001t0042g0059a0001c0001t0051g0053others(4): Show | 7 | 122 | 0.0574 | 8 | c.222 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25507219 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02622.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0016a0001c0002t0022others(1): Show | a0001c0002t0003g0088a0001c0002t0016g0011a0001c0002t0022g0117others(1): Show | 4 | 122 | 0.0328 | 8 | c.222 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25510174 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG03130.hp2 NA18952.hp1 NA19004.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0007a0001c0003t0009a0001c0007t0001 | a0001c0003t0007g0109a0001c0003t0009g0107a0001c0007t0001g0081 | 3 | 122 | 0.0246 | 8 | c.222 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25524886 | A | ACTTCCTT others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02965.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007a0001c0010 | a0001c0001t0041a0001c0001t0066a0001c0007t0007others(1): Show | a0001c0001t0041g0044a0001c0001t0066g0092a0001c0007t0007g0094others(1): Show | 4 | 122 | 0.0328 | 8 | c.222 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25539088 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG03486.hp2 NA19240.hp1 |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0008 | a0001c0003t0006g0078a0001c0003t0008g0010 | 2 | 122 | 0.0164 | 8 | c.581 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25594984 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0013 | a0001c0001t0011g0062a0001c0001t0011g0063a0001c0001t0013g0005 | 3 | 122 | 0.0246 | 8 | c.221 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25616310 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02723.hp2 NA19030.hp2 others(2): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0024a0001c0001t0054a0001c0001t0074others(2): Show | a0001c0001t0024g0003a0001c0001t0054g0103a0001c0001t0074g0116others(2): Show | 5 | 122 | 0.0410 | 8 | c.221 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25701723 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02965.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0042a0001c0001t0066others(2): Show | a0001c0001t0013g0005a0001c0001t0042g0059a0001c0001t0066g0092others(2): Show | 5 | 122 | 0.0410 | 8 | c.238 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25704337 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01261.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007a0001c0011 | a0001c0001t0011a0001c0001t0013a0001c0001t0042others(2): Show | a0001c0001t0011g0062a0001c0001t0011g0063a0001c0001t0013g0005others(3): Show | 6 | 122 | 0.0492 | 8 | c.238 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25717418 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0016others(1): Show | a0001c0001t0011a0001c0003t0001a0001c0016t0045others(1): Show | a0001c0001t0011g0061a0001c0003t0001g0106a0001c0016t0045g0105others(1): Show | 4 | 122 | 0.0328 | 8 | c.238 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25723379 | C | CTTTATAC others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 NA18522.hp1 |
a0001 | a0001c0002a0001c0019 | a0001c0002t0003a0001c0019t0007 | a0001c0002t0003g0088a0001c0019t0007g0029 | 2 | 122 | 0.0164 | 8 | c.238 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25743448 | T | TTAGCATG others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01358.hp2 HG02015.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0051a0001c0002t0001others(3): Show | a0001c0001t0002g0079a0001c0001t0051g0053a0001c0002t0001g0032others(3): Show | 6 | 122 | 0.0492 | 8 | c.238 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25762268 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG02015.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0006others(7): Show | a0001c0001t0001g0036a0001c0001t0009g0065a0001c0002t0006g0119others(7): Show | 10 | 122 | 0.0820 | 8 | c.238 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25791542 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0053a0001c0001t0066 | a0001c0001t0053g0114a0001c0001t0066g0092 | 2 | 122 | 0.0164 | 8 | c.267 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25794820 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01081.hp1 HG03195.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0054a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0054g0103a0001c0002t0001g0069a0001c0002t0003g0088others(5): Show | 8 | 122 | 0.0656 | 8 | c.267 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25814098 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0036a0001c0001t0003g0093a0001c0001t0004g0040others(39): Show | 42 | 122 | 0.3443 | 8 | c.268 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25829668 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02630.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0016a0001c0001t0053a0001c0003t0006others(1): Show | a0001c0001t0016g0104a0001c0001t0053g0114a0001c0003t0006g0078others(1): Show | 4 | 122 | 0.0328 | 8 | c.275 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25889245 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02622.hp1 HG03130.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0008a0001c0001t0025a0001c0002t0001others(5): Show | a0001c0001t0008g0073a0001c0001t0025g0009a0001c0002t0001g0032others(5): Show | 8 | 122 | 0.0656 | 8 | c.318 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25902939 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02809.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0026a0001c0002t0039a0001c0002t0063others(1): Show | a0001c0001t0026g0090a0001c0002t0039g0099a0001c0002t0063g0050others(1): Show | 4 | 122 | 0.0328 | 8 | c.318 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25937362 | C | CTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02886.hp2 NA19240.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0015a0001c0001t0050a0001c0001t0064others(1): Show | a0001c0001t0015g0016a0001c0001t0050g0025a0001c0001t0064g0072others(1): Show | 4 | 122 | 0.0328 | 8 | c.318 others(29): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 26002848 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01175.hp1 HG01261.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0042a0001c0001t0051a0001c0002t0071others(1): Show | a0001c0001t0042g0059a0001c0001t0051g0053a0001c0002t0071g0096others(1): Show | 4 | 122 | 0.0328 | 8 | c.337 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8B1_chr18_57641426_57808315 | 57648882 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01074.hp1 HG01257.hp2 others(19): Show |
a0001a0007 | a0001c0001a0001c0014a0001c0016others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0053a0001c0001t0001g0121others(19): Show | 22 | 314 | 0.0701 | 8 | c.353 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 27/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57672883 | A | AGTATATA others(1): Show |
intron_variant | MODIFIER | HG04115.hp2 NA18970.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0194a0001c0001t0003g0264a0001c0001t0012g0178 | 3 | 314 | 0.0096 | 8 | c.182 others(27): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57713157 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01257.hp1 HG01257.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0077a0001c0001t0001g0097a0001c0001t0001g0115others(21): Show | 24 | 314 | 0.0764 | 8 | c.182 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57713236 | C | CTTCTTTC others(1): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01943.hp2 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0130a0001c0001t0003g0258a0001c0001t0006g0074 | 3 | 314 | 0.0096 | 8 | c.182 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57729549 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00741.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0024a0001c0001t0001g0026a0001c0001t0001g0067others(22): Show | 25 | 314 | 0.0796 | 8 | c.181 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57732215 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02698.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025a0001c0001t0049 | a0001c0001t0002g0276a0001c0001t0025g0306a0001c0001t0049g0309 | 3 | 314 | 0.0096 | 8 | c.-25 others(23): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57732842 | C | CGTGAGCC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(306): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0010others(306): Show | 309 | 314 | 0.9841 | 8 | c.-25 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57756236 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02080.hp1 HG02083.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0043a0001c0001t0005g0042a0001c0001t0005g0071others(6): Show | 9 | 314 | 0.0287 | 8 | c.-25 others(27): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57756305 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02698.hp1 others(10): Show |
a0001a0004 | a0001c0001a0001c0012a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0009a0001c0001t0001g0078a0001c0001t0002g0202others(10): Show | 13 | 314 | 0.0414 | 8 | c.-25 others(27): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57782803 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01433.hp2 HG01517.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0067a0001c0001t0002g0227a0001c0001t0002g0228others(5): Show | 8 | 314 | 0.0255 | 8 | c.-26 others(27): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57794792 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01255.hp1 HG01255.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0006a0001c0001t0001g0112a0001c0001t0001g0131others(16): Show | 19 | 314 | 0.0605 | 8 | c.-26 others(25): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B2_chr1_154320525_154356304 | 154322490 | T | TTCTTCTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(73): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0006a0002c0008others(3): Show | a0001c0003t0002a0001c0003t0009a0001c0003t0025others(6): Show | a0001c0003t0002g0004a0001c0003t0002g0010a0001c0003t0002g0026others(42): Show | 76 | 382 | 0.1990 | 8 | c.-32 others(19): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 3034 | chr1 | TogoVar | ||||||
ATP8B3_chr19_1777075_1817276 | 1778866 | T | TCACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG01928.hp2 HG02129.hp2 others(6): Show |
a0000a0001a0003others(2): Show | a0000c0027a0001c0006a0001c0008others(4): Show | a0000c0027t0008a0001c0006t0002a0001c0006t0004others(5): Show | a0000c0027t0008g0263a0001c0006t0002g0034a0001c0006t0004g0377others(6): Show | 9 | 390 | 0.0231 | 8 | c.*41 others(19): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 3208 | chr19 | TogoVar | ||||||
ATP8B3_chr19_1777075_1817276 | 1780973 | T | TAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02055.hp2 others(4): Show |
a0000a0001 | a0000c0023a0000c0027a0000c0029others(3): Show | a0000c0023t0007a0000c0027t0008a0000c0029t0007others(3): Show | a0000c0023t0007g0048a0000c0027t0008g0250a0000c0027t0008g0263others(4): Show | 7 | 390 | 0.0180 | 8 | c.*20 others(19): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 1101 | chr19 | TogoVar | ||||||
ATP8B3_chr19_1777075_1817276 | 1781597 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(92): Show |
a0000a0001a0002others(11): Show | a0000c0020a0000c0032a0000c0035others(25): Show | a0000c0020t0007a0000c0032t0007a0000c0035t0007others(27): Show | a0000c0020t0007g0008a0000c0020t0007g0075a0000c0032t0007g0129others(91): Show | 95 | 390 | 0.2436 | 8 | c.*14 others(19): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 477 | chr19 | TogoVar | ||||||
ATP8B3_chr19_1777075_1817276 | 1797468 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG02300.hp2 others(5): Show |
a0000a0001a0002 | a0000c0054a0001c0001a0001c0004others(2): Show | a0000c0054t0007a0001c0001t0001a0001c0001t0006others(3): Show | a0000c0054t0007g0022a0001c0001t0001g0059a0001c0001t0001g0089others(5): Show | 8 | 390 | 0.0205 | 8 | c.155 others(25): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 14/28 | chr19 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 49861402 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02717.hp2 NA18950.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0030a0002c0002t0002a0003c0003t0001 | a0001c0001t0030g0150a0002c0002t0002g0062a0003c0003t0001g0001 | 3 | 254 | 0.0118 | 8 | c.329 others(25): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 27/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 49861473 | T | TCTACCTA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG03654.hp2 HG03710.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0217a0001c0001t0002g0056a0002c0002t0001g0202 | 3 | 254 | 0.0118 | 8 | c.329 others(25): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 27/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 49913124 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02622.hp1 others(10): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0003a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0019a0003c0003t0001others(6): Show | a0001c0001t0001g0179a0001c0001t0019g0035a0003c0003t0001g0176others(10): Show | 13 | 254 | 0.0512 | 8 | c.214 others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 20/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 49978739 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00558.hp1 others(9): Show |
a0002a0010 | a0002c0002a0010c0012 | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(1): Show | a0002c0002t0001g0124a0002c0002t0001g0151a0002c0002t0001g0164others(9): Show | 12 | 254 | 0.0472 | 8 | c.103 others(25): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 12/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50003274 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(48): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0002c0021others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(13): Show | a0001c0001t0001g0192a0001c0001t0002g0068a0001c0001t0002g0072others(48): Show | 51 | 254 | 0.2008 | 8 | c.436 others(25): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 7/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50021118 | T | TGATAGAT others(1): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02647.hp1 HG02896.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0019a0002c0002t0002a0003c0003t0001others(2): Show | a0001c0001t0019g0035a0002c0002t0002g0037a0002c0002t0002g0050others(4): Show | 7 | 254 | 0.0276 | 8 | c.363 others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50029238 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01258.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0014a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0031others(8): Show | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0253others(14): Show | 17 | 254 | 0.0669 | 8 | c.362 others(25): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50073019 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG02818.hp2 NA18906.hp2 NA18963.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0004 | a0003c0003t0001g0158a0003c0003t0002g0019a0003c0003t0002g0027others(1): Show | 4 | 254 | 0.0158 | 8 | c.87+ others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50073019 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG06807.hp2 NA19064.hp1 |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0001a0003c0003t0002a0005c0005t0002 | a0003c0003t0001g0162a0003c0003t0002g0011a0005c0005t0002g0014 | 3 | 254 | 0.0118 | 8 | c.87+ others(23): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51600807 | A | AACACACA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG01257.hp1 HG01496.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0026a0001c0001t0035a0001c0001t0038others(3): Show | a0001c0001t0026g0043a0001c0001t0026g0285a0001c0001t0035g0194others(4): Show | 7 | 312 | 0.0224 | 8 | c.*39 others(17): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 28/28 | 403 | chr20 | TogoVar | |||||
ATP9A_chr20_51591514_51773390 | 51608922 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(51): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0303a0001c0001t0003g0057a0001c0001t0003g0215others(51): Show | 54 | 312 | 0.1731 | 8 | c.263 others(25): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 24/27 | chr20 | TogoVar |