view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP8A1_chr4_42403373_42662105 | 42635782 | C | CACATATA others(17): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0065 | 1 | 72 | 0.0139 | 24 | c.50- others(39): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635782 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01192.hp2 HG02698.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0001g0112 a0001c0001t0008g0136 a0001c0001t0009g0223 others(3): Show |
6 | 77 | 0.0779 | 24 | c.50- others(39): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635810 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0003 | 1 | 295 | 0.0034 | 24 | c.50- others(39): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42636156 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01109.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0112 a0001c0001t0001g0177 a0001c0001t0001g0178 others(3): Show |
6 | 210 | 0.0286 | 24 | c.50- others(39): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42636156 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02738.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0016 | a0001c0001t0005g0208 a0001c0002t0016g0019 |
2 | 206 | 0.0097 | 24 | c.50- others(39): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42636156 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0186 | 1 | 205 | 0.0049 | 24 | c.50- others(39): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42636156 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02145.hp1 NA19009.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0004 | a0001c0001t0001g0074 a0001c0001t0008g0065 a0001c0002t0004g0023 |
3 | 207 | 0.0145 | 24 | c.50- others(39): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25465748 | C | CCTCCCTC others(17): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0065 | 1 | 36 | 0.0278 | 24 | c.77- others(39): 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(17): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02257.hp1 HG02273.hp1 others(4): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0003t0002a0001c0003t0010others(3): Show | a0001c0003t0001g0106 a0001c0003t0002g0108 a0001c0003t0010g0026 others(4): Show |
7 | 39 | 0.1795 | 24 | c.222 others(43): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25609563 | A | ATTCAAAT others(17): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0026 | a0001c0001t0017g0051 a0001c0001t0026g0089 |
2 | 114 | 0.0175 | 24 | c.221 others(45): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25678427 | T | TGAGTTGA others(17): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02647.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0059a0001c0002t0028a0001c0011t0017 | a0001c0001t0059g0022 a0001c0002t0028g0014 a0001c0011t0017g0121 |
3 | 120 | 0.0250 | 24 | c.221 others(45): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25678441 | T | TCCCTAGA others(17): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02015.hp1 HG02273.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0016 | a0001c0001t0011a0001c0003t0001a0001c0003t0002others(5): Show | a0001c0001t0011g0061 a0001c0003t0001g0106 a0001c0003t0002g0108 others(5): Show |
8 | 120 | 0.0667 | 24 | c.221 others(45): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25889245 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02273.hp1 HG03579.hp2 |
a0001 | a0001c0003a0001c0008 | a0001c0003t0065a0001c0008t0057 | a0001c0003t0065g0033 a0001c0008t0057g0070 |
2 | 23 | 0.0870 | 24 | c.318 others(45): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25892456 | T | TTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03453.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0030a0001c0002t0028a0001c0007t0007 | a0001c0001t0030g0091 a0001c0002t0028g0014 a0001c0007t0007g0094 |
3 | 120 | 0.0250 | 24 | c.318 others(45): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25892478 | G | GTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02809.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0010a0001c0002t0039a0001c0003t0008others(2): Show | a0001c0001t0010g0100 a0001c0002t0039g0099 a0001c0003t0008g0010 others(2): Show |
5 | 59 | 0.0847 | 24 | c.318 others(45): 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(17): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03130.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0010a0001c0001t0041a0001c0001t0072others(1): Show | a0001c0001t0010g0100 a0001c0001t0041g0044 a0001c0001t0072g0027 others(1): Show |
4 | 20 | 0.2000 | 24 | c.318 others(45): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25977026 | T | TCCACCCC others(17): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02896.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0064a0001c0001t0072a0001c0005t0012others(1): Show | a0001c0001t0064g0072 a0001c0001t0072g0027 a0001c0005t0012g0020 others(1): Show |
4 | 80 | 0.0500 | 24 | c.337 others(43): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57643072 | T | TGCTGATT others(17): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(46): Show |
a0001a0005a0011 | a0001c0001a0005c0020a0011c0010 | a0001c0001t0005a0001c0001t0009a0001c0001t0012others(7): Show | a0001c0001t0005g0011 a0001c0001t0005g0013 a0001c0001t0005g0017 others(46): Show |
49 | 312 | 0.1571 | 24 | c.*54 others(35): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 3353 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57648882 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG01081.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0002g0213 a0001c0001t0002g0301 a0001c0001t0004g0055 others(13): Show |
16 | 26 | 0.6154 | 24 | c.353 others(41): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 27/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57649190 | A | ATATCTAT others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(86): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0016a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0002g0200 a0001c0001t0002g0214 a0001c0001t0002g0221 others(86): Show |
89 | 188 | 0.4734 | 24 | c.353 others(41): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 27/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57649208 | A | ATCTATCT others(17): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0176 | 1 | 312 | 0.0032 | 24 | c.353 others(41): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 27/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57680277 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03041.hp2 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0005g0036 |
3 | 16 | 0.1875 | 24 | c.163 others(43): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57713157 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02074.hp2 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0059 a0001c0001t0002g0218 a0001c0001t0011g0181 |
3 | 198 | 0.0152 | 24 | c.182 others(41): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57713193 | T | TTCTTTCT others(17): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0156 | 1 | 310 | 0.0032 | 24 | c.182 others(41): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57713196 | T | TTTCTTTC others(17): Show |
intron_variant | MODIFIER | HG02809.hp2 NA19062.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0050a0002c0002t0014 | a0001c0001t0050g0305 a0002c0002t0014g0207 |
2 | 181 | 0.0110 | 24 | c.182 others(41): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57713240 | C | CTTCCTTC others(17): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 NA19062.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016 | a0001c0001t0001g0024 a0001c0001t0003g0209 a0001c0001t0003g0235 others(1): Show |
4 | 197 | 0.0203 | 24 | c.182 others(41): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57713240 | C | CTTCCTTC others(17): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02129.hp1 NA18945.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0001g0107 a0001c0001t0005g0039 a0001c0001t0005g0136 others(5): Show |
8 | 201 | 0.0398 | 24 | c.182 others(41): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57713240 | C | CTTCCTTC others(17): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02129.hp2 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008 | a0001c0001t0001g0018 a0001c0001t0007g0254 a0001c0001t0008g0037 |
3 | 196 | 0.0153 | 24 | c.182 others(41): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57756192 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03486.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0039a0001c0001t0049 | a0001c0001t0021g0002 a0001c0001t0039g0149 a0001c0001t0049g0309 |
3 | 144 | 0.0208 | 24 | c.-25 others(43): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B1_chr18_57641426_57808315 | 57756305 | A | ATATACAT others(17): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01175.hp2 HG01361.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0077 a0001c0001t0001g0098 a0001c0001t0002g0279 others(7): Show |
10 | 146 | 0.0685 | 24 | c.-25 others(43): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50027379 | G | GTGGATGG others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00735.hp1 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0115 a0001c0001t0001g0254 a0001c0001t0002g0017 others(17): Show |
20 | 51 | 0.3922 | 24 | c.362 others(43): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50029255 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0081 | 1 | 241 | 0.0041 | 24 | c.362 others(41): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | |||||||
ATP8B4_chr15_49853238_50124233 | 50073019 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0230 | 1 | 135 | 0.0074 | 24 | c.87+ others(39): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51635802 | G | GAGGAAGG others(17): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01192.hp2 HG02055.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0001g0205 a0001c0002t0003g0039 a0001c0002t0003g0066 others(5): Show |
8 | 63 | 0.1270 | 24 | c.166 others(43): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51635802 | G | GAGGGAGG others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00639.hp2 others(22): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0269 a0001c0001t0001g0285 a0001c0001t0002g0093 others(22): Show |
25 | 80 | 0.3125 | 24 | c.166 others(43): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51635802 | G | GAGGGAGG others(17): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 56 | 0.0179 | 24 | c.166 others(43): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51635822 | A | AAGGAAGG others(17): Show |
intron_variant | MODIFIER | HG02630.hp1 NA18522.hp2 |
a0001 | a0001c0003 | a0001c0003t0015a0001c0003t0028 | a0001c0003t0015g0115 a0001c0003t0028g0114 |
2 | 294 | 0.0068 | 24 | c.166 others(43): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51638071 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0021 | a0002c0021t0009 | a0002c0021t0009g0200 | 1 | 165 | 0.0061 | 24 | c.166 others(43): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51658888 | C | CGGGGGGG others(17): Show |
intron_variant | MODIFIER | NA18954.hp1 NA19009.hp1 |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0067 | a0001c0004t0005g0186 a0001c0004t0067g0168 |
2 | 50 | 0.0400 | 24 | c.129 others(43): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51718814 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0144 | 1 | 81 | 0.0123 | 24 | c.328 others(41): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 3/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51748948 | T | TAGATAGA others(17): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0083 | 1 | 46 | 0.0217 | 24 | c.69- others(41): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | |||||||
ATP9A_chr20_51591514_51773390 | 51748948 | T | TAGATAGA others(17): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0101 | 1 | 46 | 0.0217 | 24 | c.69- others(41): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79071399 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02809.hp1 NA18949.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0006 | a0001c0001t0001g0047 a0001c0011t0006g0105 |
2 | 3 | 0.6667 | 24 | c.119 others(41): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79073051 | T | TCCTCCCA others(17): Show |
intron_variant | MODIFIER | HG03486.hp2 NA18522.hp2 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0243 a0002c0005t0001g0244 |
2 | 296 | 0.0068 | 24 | c.119 others(41): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79231803 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03195.hp1 |
a0001 | a0001c0014 | a0001c0014t0006 | a0001c0014t0006g0017 a0001c0014t0006g0097 |
2 | 28 | 0.0714 | 24 | c.110 others(45): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79246103 | G | GCACCGCC others(17): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0039 | a0001c0039t0002 | a0001c0039t0002g0266 | 1 | 296 | 0.0034 | 24 | c.110 others(43): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79256257 | C | CCATATAT others(17): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0288 | 1 | 96 | 0.0104 | 24 | c.126 others(43): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 12/29 | chr18 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79256257 | C | CTATATAT others(17): Show |
intron_variant | MODIFIER | HG01981.hp2 HG06807.hp1 NA18946.hp1 others(3): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0003a0001c0003t0011others(2): Show | a0001c0003t0001g0137 a0001c0003t0003g0129 a0001c0003t0003g0144 others(3): Show |
6 | 101 | 0.0594 | 24 | c.126 others(43): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79256284 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02970.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0003a0002c0002t0004 | a0001c0003t0003g0133 a0002c0002t0004g0258 |
2 | 289 | 0.0069 | 24 | c.126 others(43): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79256286 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0011 | a0001c0011t0006 | a0001c0011t0006g0106 | 1 | 258 | 0.0039 | 24 | c.126 others(43): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |