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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP7A_chrX_77905693_78055395 | 78005683 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG03041.hp2 HG03195.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0008g0124 | 3 | 233 | 0.0129 | -14 | c.170 others(33): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7B_chr13_51927669_52016450 | 52007134 | AACTGTGG others(7): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0005 | a0005c0026 | a0005c0026t0004 | a0005c0026t0004g0120 | 1 | 302 | 0.0033 | -14 | c.51+ others(29): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 1/20 | chr13 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42435436 | AAAAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0030 | 1 | 310 | 0.0032 | -14 | c.312 others(33): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 33/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42466031 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0088 | 1 | 310 | 0.0032 | -14 | c.232 others(31): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42564892 | AGGAGGGA others(7): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG02257.hp1 HG02818.hp2 others(2): Show |
a0002 | a0002c0005a0002c0007 | a0002c0005t0004a0002c0005t0031a0002c0007t0001 | a0002c0005t0004g0037a0002c0005t0004g0041a0002c0005t0004g0113others(2): Show | 5 | 310 | 0.0161 | -14 | c.134 others(33): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 15/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42576475 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01358.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0127a0001c0001t0030g0126 | 2 | 310 | 0.0065 | -14 | c.112 others(31): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 12/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42635774 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0008 | 1 | 310 | 0.0032 | -14 | c.50- others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42636119 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG03453.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004a0001c0002t0026 | a0001c0001t0004g0043a0001c0002t0004g0131a0001c0002t0026g0012 | 3 | 310 | 0.0097 | -14 | c.50- others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42636144 | ACACACAC others(7): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp1 HG02055.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0008a0001c0001t0010a0001c0001t0018others(1): Show | a0001c0001t0008g0039a0001c0001t0008g0040a0001c0001t0010g0288others(4): Show | 7 | 310 | 0.0226 | -14 | c.50- others(29): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25495056 | ACACCTAT others(7): Show |
A | intron_variant | MODIFIER | HG03486.hp1 NA21309.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0052a0001c0005t0044 | a0001c0003t0052g0113a0001c0005t0044g0018 | 2 | 122 | 0.0164 | -14 | c.221 others(33): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25510174 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0052 | a0001c0003t0052g0113 | 1 | 122 | 0.0082 | -14 | c.222 others(33): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25539060 | AGTGTGTG others(7): Show |
A | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0003 | a0001c0003t0060 | a0001c0003t0060g0115 | 1 | 122 | 0.0082 | -14 | c.581 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25829668 | GTATATAT others(7): Show |
G | intron_variant | MODIFIER | HG02809.hp2 HG03195.hp2 HG03579.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0019a0001c0001t0046a0001c0001t0074others(3): Show | a0001c0001t0019g0004a0001c0001t0046g0045a0001c0001t0074g0116others(3): Show | 6 | 122 | 0.0492 | -14 | c.275 others(33): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25984607 | AAAACAAA others(7): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG03225.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0047a0001c0007t0007 | a0001c0002t0047g0076a0001c0007t0007g0094 | 2 | 122 | 0.0164 | -14 | c.337 others(35): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8B1_chr18_57641426_57808315 | 57656777 | GGGGGAGA others(7): Show |
G | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0092 | 1 | 314 | 0.0032 | -14 | c.270 others(33): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 22/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57672883 | AAAGTATA others(7): Show |
A | intron_variant | MODIFIER | HG02132.hp1 HG03098.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0048 | a0001c0001t0004g0087a0001c0001t0006g0054a0001c0001t0048g0312 | 3 | 314 | 0.0096 | -14 | c.182 others(33): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57672886 | GTATATAT others(7): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01517.hp2 HG02129.hp2 others(15): Show |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0001g0067a0001c0001t0007g0196a0001c0001t0007g0210others(15): Show | 18 | 314 | 0.0573 | -14 | c.182 others(33): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57732295 | ATATGTGT others(7): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp2 others(78): Show |
a0001a0002a0008 | a0001c0001a0001c0005a0001c0016others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0001g0024others(78): Show | 81 | 314 | 0.2580 | -14 | c.-25 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57732958 | CAACATTT others(7): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG02080.hp1 NA18974.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0014a0002c0002t0019others(1): Show | a0001c0001t0011g0184a0002c0002t0014g0207a0002c0002t0014g0237others(3): Show | 6 | 314 | 0.0191 | -14 | c.-25 others(31): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57759155 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0288 | 1 | 314 | 0.0032 | -14 | c.-25 others(33): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57761025 | CATAAAAT others(7): Show |
C | intron_variant | MODIFIER | HG01346.hp2 NA20300.hp1 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0011a0006c0009t0033 | a0001c0001t0011g0159a0006c0009t0033g0080 | 2 | 314 | 0.0064 | -14 | c.-25 others(33): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57764327 | CTTTCTTT others(7): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(114): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0012a0001c0014others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0012others(114): Show | 117 | 314 | 0.3726 | -14 | c.-25 others(33): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57764341 | TTTTCTTT others(7): Show |
T | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0092 | 1 | 314 | 0.0032 | -14 | c.-25 others(33): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57776664 | AAAGTGAC others(7): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0034 | 1 | 314 | 0.0032 | -14 | c.-26 others(33): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B2_chr1_154320525_154356304 | 154355219 | AACACACA others(7): Show |
A | downstream_gene_variant | MODIFIER | HG01517.hp1 HG01884.hp2 HG01891.hp1 others(17): Show |
a0001a0005a0009 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0009a0001c0004t0004others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0083others(13): Show | 20 | 382 | 0.0524 | -14 | c.*61 others(25): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 3916 | chr1 | TogoVar | ||||||
ATP8B3_chr19_1777075_1817276 | 1778866 | TCACACAC others(7): Show |
T | downstream_gene_variant | MODIFIER | HG01081.hp1 NA20905.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0005 | a0001c0001t0001g0063a0002c0003t0005g0313 | 2 | 390 | 0.0051 | -14 | c.*41 others(25): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 3208 | chr19 | TogoVar | ||||||
ATP8B3_chr19_1777075_1817276 | 1795784 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(48): Show |
a0001a0002a0003others(7): Show | a0001c0037a0002c0007a0003c0002others(14): Show | a0001c0037t0009a0002c0007t0004a0003c0002t0002others(16): Show | a0001c0037t0009g0201a0002c0007t0004g0362a0003c0002t0002g0006others(47): Show | 51 | 390 | 0.1308 | -14 | c.205 others(29): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 18/28 | chr19 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 49861416 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02630.hp2 HG02809.hp2 others(4): Show |
a0004a0008 | a0004c0004a0004c0010a0008c0008 | a0004c0004t0005a0004c0004t0011a0004c0010t0005others(1): Show | a0004c0004t0005g0248a0004c0004t0005g0249a0004c0004t0011g0022others(4): Show | 7 | 254 | 0.0276 | -14 | c.329 others(31): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 27/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 49885734 | CCACCCCA others(7): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(90): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0144a0001c0001t0001g0206a0001c0001t0001g0217others(89): Show | 93 | 254 | 0.3661 | -14 | c.269 others(33): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 23/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 49978739 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02809.hp1 HG02976.hp2 |
a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0240a0007c0007t0001g0242a0007c0007t0001g0243 | 3 | 254 | 0.0118 | -14 | c.103 others(31): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 12/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50064851 | AAAGGGAG others(7): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(40): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0014a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0110others(40): Show | 43 | 254 | 0.1693 | -14 | c.87+ others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50072921 | CCTCTCTC others(7): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG02622.hp2 NA19065.hp2 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0002a0004c0004t0009 | a0002c0002t0002g0002a0002c0002t0002g0076a0004c0004t0009g0091 | 3 | 254 | 0.0118 | -14 | c.87+ others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50072970 | CTCTCTCT others(7): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0241 | 1 | 254 | 0.0039 | -14 | c.87+ others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50072974 | CTCTCTCT others(7): Show |
C | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 254 | 0.0039 | -14 | c.87+ others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50073013 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 254 | 0.0039 | -14 | c.87+ others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50073015 | TATATACA others(7): Show |
T | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0108 | 1 | 254 | 0.0039 | -14 | c.87+ others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50073019 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01074.hp1 others(5): Show |
a0001a0015 | a0001c0001a0015c0015 | a0001c0001t0001a0001c0001t0002a0015c0015t0027 | a0001c0001t0001g0134a0001c0001t0001g0135a0001c0001t0001g0136others(5): Show | 8 | 254 | 0.0315 | -14 | c.87+ others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50098266 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01257.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(6): Show | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0238others(10): Show | 13 | 254 | 0.0512 | -14 | c.28+ others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51638069 | TTTTATAT others(7): Show |
T | intron_variant | MODIFIER | HG00544.hp2 NA18943.hp1 NA18961.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0002g0029a0001c0001t0003g0266a0001c0001t0006g0258others(2): Show | 5 | 312 | 0.0160 | -14 | c.166 others(33): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51642725 | CCAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG03490.hp1 NA18943.hp1 others(2): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(2): Show | a0001c0001t0001g0094a0001c0001t0002g0305a0001c0001t0022g0028others(2): Show | 5 | 312 | 0.0160 | -14 | c.150 others(33): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 14/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51718814 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(57): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0287a0001c0001t0002g0274a0001c0001t0003g0166others(57): Show | 60 | 312 | 0.1923 | -14 | c.328 others(31): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 3/27 | chr20 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79118382 | ACGTTTTT others(7): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0020 | a0003c0020t0004 | a0003c0020t0004g0289 | 1 | 298 | 0.0034 | -14 | c.558 others(31): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 4/29 | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79157207 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG01106.hp1 others(48): Show |
a0001a0012a0015others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(14): Show | a0001c0001t0001g0116a0001c0001t0001g0118a0001c0001t0001g0140others(48): Show | 51 | 298 | 0.1711 | -14 | c.778 others(31): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79185064 | AGCAGGTG others(7): Show |
A | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0290 | 1 | 298 | 0.0034 | -14 | c.874 others(31): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 8/29 | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79190533 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | NA18992.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0178 | 1 | 298 | 0.0034 | -14 | c.874 others(31): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79234655 | GTGTGGGT others(7): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG03195.hp1 HG03225.hp1 others(1): Show |
a0001a0014 | a0001c0014a0001c0017a0014c0022 | a0001c0014t0006a0001c0017t0004a0014c0022t0004 | a0001c0014t0006g0017a0001c0014t0006g0093a0001c0017t0004g0099others(1): Show | 4 | 298 | 0.0134 | -14 | c.110 others(35): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79356854 | TCCGTGTG others(7): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(70): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0002a0001c0003t0002a0001c0004t0002others(8): Show | a0001c0001t0002g0079a0001c0003t0002g0135a0001c0003t0002g0149others(70): Show | 73 | 298 | 0.2450 | -14 | c.290 others(33): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79357414 | TCTGTGTG others(7): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 298 | 0.0034 | -14 | c.290 others(33): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79357570 | TCCGTGTG others(7): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0171 | 1 | 298 | 0.0034 | -14 | c.290 others(33): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79357726 | TCCGTGTG others(7): Show |
T | intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0172 | 1 | 298 | 0.0034 | -14 | c.290 others(33): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |