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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V1E2_chr2_46506847_46547577 | 46514295 | T | TAAAAAGA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(163): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0003a0001c0001t0002g0008a0001c0001t0002g0011others(117): Show | 166 | 410 | 0.4049 | 7 | c.-10 others(26): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46540613 | C | CTTTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02109.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0003 | a0001c0001t0003g0098a0001c0001t0003g0179a0001c0001t0005g0029others(5): Show | 9 | 410 | 0.0220 | 7 | c.-31 others(24): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 2/4 | chr2 | TogoVar | ||||||
ATP6V1FNB_chr7_128861330_128877047 | 128868458 | T | TGATGGCA | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00609.hp1 others(93): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0011 | a0001c0001t0002a0001c0001t0031a0001c0001t0032others(4): Show | a0001c0001t0002g0002a0001c0001t0002g0006a0001c0001t0002g0015others(7): Show | 96 | 442 | 0.2172 | 7 | c.422 others(22): Show |
ATP6V1FNB | ENSG00000272899.4 | transcript | ENST00000609480.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ATP6V1F_chr7_128857856_128870847 | 128868458 | T | TGATGGCA | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(94): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0002c0003t0001a0003c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0009others(10): Show | 97 | 442 | 0.2195 | 7 | c.*28 others(18): Show |
ATP6V1F | ENSG00000128524.5 | transcript | ENST00000249289.5 | protein_coding | 2612 | chr7 | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77987444 | T | TGTGTGTG | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0144 | 1 | 233 | 0.0043 | 7 | c.121 others(22): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 78037980 | G | GTTTTTTT | intron_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0049 | 1 | 233 | 0.0043 | 7 | c.351 others(24): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP8A1_chr4_42403373_42662105 | 42435461 | A | AAAAAAAC | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG04228.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0236a0001c0001t0006g0237a0001c0001t0006g0238others(8): Show | 11 | 310 | 0.0355 | 7 | c.312 others(26): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 33/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42507729 | C | CAAAAAAA | intron_variant | MODIFIER | HG01192.hp2 HG01261.hp1 HG01358.hp1 others(16): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0005g0298a0001c0001t0005g0301a0001c0001t0006g0210others(16): Show | 19 | 310 | 0.0613 | 7 | c.194 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 22/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | A | ATCTATCT | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0018a0001c0002t0007 | a0001c0001t0001g0047a0001c0001t0018g0042a0001c0002t0007g0096others(1): Show | 4 | 310 | 0.0129 | 7 | c.141 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42608363 | A | ATTTTTTT | intron_variant | MODIFIER | HG01081.hp2 HG01978.hp1 HG02622.hp2 others(3): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0010 | a0001c0001t0003a0001c0001t0012a0001c0001t0021others(3): Show | a0001c0001t0003g0201a0001c0001t0012g0308a0001c0001t0021g0187others(3): Show | 6 | 310 | 0.0194 | 7 | c.409 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 5/36 | chr4 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25393133 | C | CTTTTTTT | intron_variant | MODIFIER | HG01496.hp1 HG02258.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0002a0001c0011a0001c0015 | a0001c0002t0016a0001c0002t0023a0001c0002t0028others(2): Show | a0001c0002t0016g0011a0001c0002t0023g0013a0001c0002t0028g0014others(2): Show | 5 | 122 | 0.0410 | 7 | c.76+ others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25399397 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG00741.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0001g0036a0001c0001t0003g0093a0001c0001t0004g0040others(42): Show | 45 | 122 | 0.3689 | 7 | c.76+ others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25531236 | A | ATATATGT | intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG03130.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0015others(1): Show | a0001c0001t0005a0001c0001t0016a0001c0001t0025others(5): Show | a0001c0001t0005g0102a0001c0001t0016g0104a0001c0001t0025g0009others(5): Show | 8 | 122 | 0.0656 | 7 | c.420 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25531273 | T | TATATATG | intron_variant | MODIFIER | HG01261.hp2 HG02257.hp2 HG02896.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0009a0001c0001t0017a0001c0001t0026others(6): Show | a0001c0001t0009g0065a0001c0001t0017g0051a0001c0001t0026g0090others(6): Show | 9 | 122 | 0.0738 | 7 | c.420 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25717418 | T | TAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG02015.hp1 HG02055.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0008a0001c0001t0019a0001c0001t0026others(11): Show | a0001c0001t0008g0073a0001c0001t0019g0004a0001c0001t0026g0090others(11): Show | 14 | 122 | 0.1148 | 7 | c.238 others(28): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25762268 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00741.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0015others(16): Show | a0001c0001t0004g0040a0001c0001t0011g0061a0001c0001t0011g0062others(18): Show | 21 | 122 | 0.1721 | 7 | c.238 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8B1_chr18_57641426_57808315 | 57668554 | T | TAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(151): Show |
a0001a0005a0011 | a0001c0001a0001c0005a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0012others(151): Show | 154 | 314 | 0.4905 | 7 | c.209 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 18/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57672914 | A | AAAACATG | intron_variant | MODIFIER | HG02809.hp2 HG02818.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0050 | a0001c0001t0002g0202a0001c0001t0004g0105a0001c0001t0050g0305 | 3 | 314 | 0.0096 | 7 | c.182 others(26): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 16/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57729549 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp2 others(78): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0018others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0001g0066others(78): Show | 81 | 314 | 0.2580 | 7 | c.181 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57782803 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG00642.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0016a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0015others(24): Show | 27 | 314 | 0.0860 | 7 | c.-26 others(26): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
ATP8B3_chr19_1777075_1817276 | 1780973 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp2 others(33): Show |
a0000a0001a0002others(4): Show | a0000c0020a0000c0023a0000c0029others(21): Show | a0000c0020t0008a0000c0023t0007a0000c0029t0007others(22): Show | a0000c0020t0008g0378a0000c0023t0007g0036a0000c0023t0007g0106others(33): Show | 36 | 390 | 0.0923 | 7 | c.*20 others(18): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 1101 | chr19 | TogoVar | ||||||
ATP8B3_chr19_1777075_1817276 | 1781597 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01070.hp2 HG02486.hp2 HG02738.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0007others(2): Show | a0001c0001t0006a0001c0006t0002a0001c0006t0004others(3): Show | a0001c0001t0006g0374a0001c0001t0006g0375a0001c0006t0002g0045others(8): Show | 11 | 390 | 0.0282 | 7 | c.*14 others(18): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 477 | chr19 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50029238 | T | TAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0026a0002c0002t0001a0002c0002t0003others(6): Show | a0001c0001t0026g0233a0002c0002t0001g0153a0002c0002t0001g0194others(14): Show | 17 | 254 | 0.0669 | 7 | c.362 others(24): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 6/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50086235 | A | ATATATTT | intron_variant | MODIFIER | HG01243.hp1 HG03209.hp1 HG04204.hp1 others(1): Show |
a0001a0005a0017 | a0001c0001a0005c0005a0017c0018 | a0001c0001t0001a0005c0005t0021a0017c0018t0004 | a0001c0001t0001g0089a0001c0001t0001g0090a0005c0005t0021g0040others(1): Show | 4 | 254 | 0.0158 | 7 | c.29- others(24): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
ATP8B4_chr15_49853238_50124233 | 50114103 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00642.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(5): Show | a0001c0001t0001g0144a0002c0002t0001g0128a0002c0002t0001g0130others(14): Show | 17 | 254 | 0.0669 | 7 | c.-43 others(24): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 1/27 | chr15 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51623801 | A | AAAGAAAG | intron_variant | MODIFIER | HG01168.hp2 HG01358.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004a0001c0015others(1): Show | a0001c0001t0009a0001c0001t0013a0001c0001t0024others(6): Show | a0001c0001t0009g0020a0001c0001t0013g0051a0001c0001t0013g0128others(7): Show | 10 | 312 | 0.0321 | 7 | c.201 others(26): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 18/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51634855 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0002g0280a0001c0001t0002g0281a0001c0002t0001g0200others(29): Show | 32 | 312 | 0.1026 | 7 | c.166 others(26): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 15/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51658888 | C | CGGTGGGG | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp1 others(44): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0027a0001c0001t0001g0030a0001c0001t0001g0190others(44): Show | 47 | 312 | 0.1506 | 7 | c.129 others(26): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 13/27 | chr20 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51743396 | A | ATTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp2 others(68): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0015a0001c0001t0001g0037a0001c0001t0001g0077others(68): Show | 71 | 312 | 0.2276 | 7 | c.69- others(24): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79071399 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(95): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0002c0002others(10): Show | a0001c0001t0001a0001c0006t0003a0001c0006t0007others(14): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(95): Show | 98 | 298 | 0.3289 | 7 | c.119 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79086435 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG00741.hp2 others(34): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(10): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0022others(34): Show | 37 | 298 | 0.1242 | 7 | c.120 others(26): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79144738 | C | CTTATTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(204): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0004others(31): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(48): Show | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0091others(203): Show | 207 | 298 | 0.6946 | 7 | c.726 others(22): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79203605 | C | CTTCCTAG | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp2 others(3): Show |
a0002a0005 | a0002c0032a0005c0009 | a0002c0032t0005a0005c0009t0005 | a0002c0032t0005g0195a0005c0009t0005g0165a0005c0009t0005g0166others(3): Show | 6 | 298 | 0.0201 | 7 | c.955 others(24): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79237214 | G | GCCCCTTC | intron_variant | MODIFIER | HG02074.hp2 NA18979.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0039a0001c0001t0001g0040 | 3 | 298 | 0.0101 | 7 | c.110 others(28): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79246115 | T | TGTGTGGA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00733.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0158a0002c0002t0001g0159a0002c0002t0001g0160others(5): Show | 8 | 298 | 0.0269 | 7 | c.110 others(26): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79246262 | T | TGTGTGGA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00733.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0158a0002c0002t0001g0159a0002c0002t0001g0160others(5): Show | 8 | 298 | 0.0269 | 7 | c.110 others(26): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 11/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79367190 | C | CTCCACCG | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00609.hp2 others(97): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(97): Show | 100 | 298 | 0.3356 | 7 | c.301 others(26): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115260005 | A | AATTGAAG | intron_variant | MODIFIER | HG01071.hp2 HG01109.hp1 HG02280.hp1 others(6): Show |
a0002 | a0002c0004a0002c0008a0002c0014 | a0002c0004t0002a0002c0004t0006a0002c0004t0007others(4): Show | a0002c0004t0002g0012a0002c0004t0002g0013a0002c0004t0006g0084others(6): Show | 9 | 128 | 0.0703 | 7 | c.168 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 10/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115303221 | G | GTTTTTGT | intron_variant | MODIFIER | HG00639.hp2 HG02717.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0005a0001c0007 | a0001c0005t0007a0001c0005t0018a0001c0005t0021others(3): Show | a0001c0005t0007g0002a0001c0005t0007g0004a0001c0005t0007g0009others(5): Show | 8 | 128 | 0.0625 | 7 | c.281 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 17/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115350334 | C | CAAAAAAA | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01123.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0001a0001c0002t0004others(3): Show | a0001c0001t0003g0093a0001c0002t0001g0051a0001c0002t0004g0058others(4): Show | 7 | 128 | 0.0547 | 7 | c.317 others(28): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115440638 | A | AGCTAATG | intron_variant | MODIFIER | HG01109.hp1 HG03239.hp2 |
a0001a0002 | a0001c0013a0002c0008 | a0001c0013t0009a0002c0008t0044 | a0001c0013t0009g0078a0002c0008t0044g0063 | 2 | 128 | 0.0156 | 7 | c.332 others(28): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 21/28 | chr10 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115683548 | G | GTTTTTTT | intron_variant | MODIFIER | HG01123.hp1 HG01361.hp2 HG01952.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0036a0001c0001t0001g0065a0001c0001t0001g0085others(6): Show | 9 | 128 | 0.0703 | 7 | c.379 others(28): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRNL1_chr10_115088365_115953999 | 115856428 | C | CAAAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01943.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0065a0001c0001t0001g0120a0001c0001t0001g0124others(19): Show | 22 | 128 | 0.1719 | 7 | c.401 others(26): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATRN_chr20_3466018_3656118 | 3485610 | G | GTTTTTTT | intron_variant | MODIFIER | HG02015.hp2 HG02145.hp2 HG03098.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0003t0002others(2): Show | a0001c0001t0001g0163a0001c0002t0003g0220a0001c0003t0002g0214others(3): Show | 6 | 220 | 0.0273 | 7 | c.410 others(26): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ATRX_chrX_77499880_77791216 | 77538230 | A | ACACACAC | intron_variant | MODIFIER | HG02615.hp2 NA19080.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0005 | a0001c0001t0004g0122a0001c0005t0005g0081 | 2 | 218 | 0.0092 | 7 | c.670 others(28): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 30/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77585583 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG01106.hp1 HG02738.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0117a0002c0002t0001g0140a0002c0002t0002g0210 | 3 | 218 | 0.0138 | 7 | c.621 others(26): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77644184 | C | CTTGGCCT | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0076 | 1 | 218 | 0.0046 | 7 | c.455 others(26): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77651217 | C | CAAAAAAA | intron_variant | MODIFIER | HG02135.hp1 HG02165.hp2 NA19074.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0108a0001c0001t0002g0172a0001c0001t0003g0138others(2): Show | 5 | 218 | 0.0229 | 7 | c.455 others(24): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77671165 | A | ATATATAT | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0082 | 1 | 218 | 0.0046 | 7 | c.380 others(26): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77671167 | A | AAAAAAAT | intron_variant | MODIFIER | HG04115.hp1 NA19011.hp1 NA19083.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0017a0002c0002t0001g0097a0002c0002t0003g0019 | 3 | 218 | 0.0138 | 7 | c.380 others(26): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 10/34 | chrX | TogoVar |