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 | 25892478 | G | GTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03453.hp1 NA18986.hp1 |
a0001 | a0001c0001a0001c0002a0001c0015 | a0001c0001t0048a0001c0002t0063a0001c0015t0008 | a0001c0001t0048g0122a0001c0002t0063g0050a0001c0015t0008g0015 | 3 | 122 | 0.0246 | 12 | c.318 others(33): 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(5): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02280.hp1 HG02280.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0005a0001c0001t0018a0001c0001t0046others(11): Show | a0001c0001t0005g0102a0001c0001t0018g0041a0001c0001t0046g0045others(11): Show | 14 | 122 | 0.1148 | 12 | c.318 others(33): 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(5): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0070 | a0001c0002t0070g0068 | 1 | 122 | 0.0082 | 12 | c.318 others(33): 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(5): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0041a0001c0002t0023a0001c0003t0073others(3): Show | a0001c0001t0041g0044a0001c0002t0023g0013a0001c0003t0073g0001others(3): Show | 6 | 122 | 0.0492 | 12 | c.337 others(31): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 26002848 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02976.hp2 NA18522.hp2 NA19004.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0018 | a0001c0001t0024a0001c0002t0001a0001c0002t0070others(1): Show | a0001c0001t0024g0003a0001c0002t0001g0035a0001c0002t0070g0068others(1): Show | 4 | 122 | 0.0328 | 12 | c.337 others(31): 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(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(85): Show |
a0001a0004a0008 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0009others(85): Show | 88 | 314 | 0.2803 | 12 | c.353 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 27/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57649190 | A | ATATCTAT others(5): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG02895.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0279a0001c0001t0002g0290a0001c0001t0003g0195others(4): Show | 7 | 314 | 0.0223 | 12 | c.353 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 27/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57658627 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0296 | 1 | 314 | 0.0032 | 12 | c.270 others(31): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 22/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57672883 | A | AGTATATA others(5): Show |
intron_variant | MODIFIER | NA18974.hp1 NA18986.hp2 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0017 | a0001c0001t0001g0066a0001c0001t0003g0241a0001c0001t0017g0248 | 3 | 314 | 0.0096 | 12 | c.182 others(31): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57672931 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0063 | 1 | 314 | 0.0032 | 12 | c.182 others(31): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57713157 | C | CTCTTTCT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(31): Show |
a0001a0010 | a0001c0001a0010c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0014a0001c0001t0001g0049a0001c0001t0001g0061others(31): Show | 34 | 314 | 0.1083 | 12 | c.182 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57713196 | T | TTTCTTTC others(5): Show |
intron_variant | MODIFIER | HG00544.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0081a0001c0001t0011g0184 | 2 | 314 | 0.0064 | 12 | c.182 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57713236 | C | CTTCTTTC others(5): Show |
intron_variant | MODIFIER | NA19087.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0261a0001c0001t0005g0025 | 2 | 314 | 0.0064 | 12 | c.182 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57713240 | C | CTTCCTTC others(5): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0005 | a0001c0005t0016 | a0001c0005t0016g0056 | 1 | 314 | 0.0032 | 12 | c.182 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57713240 | C | CTTCCTTC others(5): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18980.hp2 NA19054.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0014a0002c0002t0019 | a0001c0001t0007g0255a0002c0002t0014g0274a0002c0002t0019g0038others(1): Show | 4 | 314 | 0.0127 | 12 | c.182 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57713240 | C | CTTCTTTC others(5): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01891.hp1 HG01934.hp1 others(6): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0292a0001c0001t0003g0241a0001c0001t0003g0269others(6): Show | 9 | 314 | 0.0287 | 12 | c.182 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57726226 | C | CAAACAAA others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(99): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0001c0018others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0018others(99): Show | 102 | 314 | 0.3248 | 12 | c.181 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57752207 | A | AAATAATA others(5): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01168.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0015a0001c0001t0001g0049a0001c0001t0001g0077others(12): Show | 15 | 314 | 0.0478 | 12 | c.-25 others(31): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57756653 | T | TTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00642.hp1 others(46): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0019a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0001g0006a0001c0001t0001g0049a0001c0001t0001g0053others(46): Show | 49 | 314 | 0.1561 | 12 | c.-25 others(31): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57759155 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0150 | 1 | 314 | 0.0032 | 12 | c.-25 others(31): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57794792 | A | AAAAGAAA others(5): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0304 | 1 | 314 | 0.0032 | 12 | c.-26 others(29): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B2_chr1_154320525_154356304 | 154348432 | A | AGCCCACG others(5): Show |
disruptive_inframe_insertion | MODERATE | NA18990.hp1 | a0008 | a0008c0023 | a0008c0023t0001 | a0008c0023t0001g0060 | 1 | 382 | 0.0026 | 12 | c.319 others(21): Show |
p.Pro others(15): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 27/28 | 3418/5974 | 3203/3573 | 1068/1190 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
ATP8B2_chr1_154320525_154356304 | 154355219 | A | AACACACA others(5): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0169 | 1 | 382 | 0.0026 | 12 | c.*61 others(23): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 3916 | chr1 | TogoVar | ||||||
ATP8B3_chr19_1777075_1817276 | 1778866 | T | TCACACAC others(5): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0320 | 1 | 390 | 0.0026 | 12 | c.*41 others(23): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 3208 | chr19 | TogoVar | ||||||
ATP8B3_chr19_1777075_1817276 | 1778891 | C | CACACACA others(5): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 390 | 0.0026 | 12 | c.*41 others(23): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 3183 | chr19 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 49861473 | T | TCTATCTA others(5): Show |
intron_variant | MODIFIER | HG01081.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0007a0001c0001t0007g0070 | 2 | 254 | 0.0079 | 12 | c.329 others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 27/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 49978739 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02129.hp1 HG02129.hp2 others(9): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0002g0075a0002c0002t0001g0132a0002c0002t0001g0172others(9): Show | 12 | 254 | 0.0472 | 12 | c.103 others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 12/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50003274 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0219 | 1 | 254 | 0.0039 | 12 | c.436 others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 7/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50027379 | G | GTGGATGG others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp2 others(67): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0021others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0028others(21): Show | a0001c0001t0001g0230a0001c0001t0001g0245a0001c0001t0002g0068others(67): Show | 70 | 254 | 0.2756 | 12 | c.362 others(31): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50029238 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03516.hp2 NA19030.hp1 |
a0004a0016 | a0004c0004a0004c0010a0016c0017 | a0004c0004t0011a0004c0010t0005a0016c0017t0001 | a0004c0004t0011g0022a0004c0010t0005g0152a0016c0017t0001g0095 | 3 | 254 | 0.0118 | 12 | c.362 others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50072921 | C | CCTCTCTC others(5): Show |
intron_variant | MODIFIER | HG04204.hp2 NA19006.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0086a0002c0002t0002g0050 | 2 | 254 | 0.0079 | 12 | c.87+ others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50072980 | C | CTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0033 | 1 | 254 | 0.0039 | 12 | c.87+ others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50072980 | C | CTCTCTCT others(5): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029 | 1 | 254 | 0.0039 | 12 | c.87+ others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50073019 | T | TATATACA others(5): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0157 | 1 | 254 | 0.0039 | 12 | c.87+ others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50073019 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0003 | a0003c0003 | a0003c0003t0012 | a0003c0003t0012g0038 | 1 | 254 | 0.0039 | 12 | c.87+ others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50073019 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0127 | 1 | 254 | 0.0039 | 12 | c.87+ others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 3/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50085882 | T | TATGATAT others(5): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 254 | 0.0039 | 12 | c.29- others(29): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50104866 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0105 | 1 | 254 | 0.0039 | 12 | c.28+ others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50104866 | T | TATACACA others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(118): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0021others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(33): Show | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0090others(118): Show | 121 | 254 | 0.4764 | 12 | c.28+ others(27): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51600807 | A | AACACACA others(5): Show |
3_prime_UTR_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0096 | 1 | 312 | 0.0032 | 12 | c.*39 others(21): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 28/28 | 403 | chr20 | TogoVar | |||||
ATP9A_chr20_51591514_51773390 | 51608922 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG02257.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0013a0001c0002t0003a0001c0002t0005others(7): Show | a0001c0001t0013g0134a0001c0002t0003g0039a0001c0002t0003g0066others(9): Show | 12 | 312 | 0.0385 | 12 | c.263 others(29): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 24/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51623801 | A | AAAAGAAA others(5): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0004 | a0001c0004t0070 | a0001c0004t0070g0165 | 1 | 312 | 0.0032 | 12 | c.201 others(31): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 18/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51634855 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0010 | 1 | 312 | 0.0032 | 12 | c.166 others(31): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51635802 | G | GAGGAAGG others(5): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0019a0001c0020 | a0001c0001t0013a0001c0019t0010a0001c0020t0009 | a0001c0001t0013g0060a0001c0019t0010g0129a0001c0020t0009g0127 | 3 | 312 | 0.0096 | 12 | c.166 others(31): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51638068 | A | ACTATATA others(5): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0159 | 1 | 312 | 0.0032 | 12 | c.166 others(31): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51638069 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG02155.hp2 HG03669.hp2 NA19056.hp1 others(1): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0018a0001c0001t0022a0001c0001t0078others(1): Show | a0001c0001t0018g0254a0001c0001t0022g0103a0001c0001t0078g0038others(1): Show | 4 | 312 | 0.0128 | 12 | c.166 others(31): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51638071 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02683.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0004a0001c0005a0001c0008 | a0001c0004t0009a0001c0004t0017a0001c0004t0071others(2): Show | a0001c0004t0009g0179a0001c0004t0017g0170a0001c0004t0071g0097others(3): Show | 6 | 312 | 0.0192 | 12 | c.166 others(31): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51638071 | T | TTTTATAT others(5): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0227 | 1 | 312 | 0.0032 | 12 | c.166 others(31): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51638121 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0085 | 1 | 312 | 0.0032 | 12 | c.166 others(31): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51638121 | A | ATATCTAT others(5): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0060 | a0001c0003t0060g0088 | 1 | 312 | 0.0032 | 12 | c.166 others(31): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar |