| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP6V1C2_chr2_10716630_10790110 | 10788065 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00733.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0002c0002t0002a0002c0003t0002 | a0001c0001t0002g0175a0001c0001t0002g0191a0001c0001t0002g0289others(17): Show | 20 | 354 | 0.0565 | 5 | c.*48 others(16): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 2956 | chr2 | TogoVar | ||||||
| ATP6V1C2_chr2_10716630_10790110 | 10789407 | G | GAAAAC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(128): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0011a0002c0002t0002others(6): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0004others(126): Show | 131 | 354 | 0.3701 | 5 | c.*61 others(16): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 4298 | chr2 | TogoVar | ||||||
| ATP6V1E1_chr22_17587136_17633749 | 17596976 | C | CTGTAA | intron_variant | MODIFIER | HG03041.hp2 HG03130.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021a0001c0001t0003g0201 | 3 | 370 | 0.0081 | 5 | c.530 others(22): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 7/8 | chr22 | TogoVar | ||||||
| ATP6V1E1_chr22_17587136_17633749 | 17599577 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG00733.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0045a0001c0001t0001g0150a0001c0001t0001g0191others(63): Show | 70 | 370 | 0.1892 | 5 | c.435 others(20): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 6/8 | chr22 | TogoVar | ||||||
| ATP6V1E1_chr22_17587136_17633749 | 17626325 | A | AAAAAG | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00639.hp2 others(80): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0007others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0002g0025others(75): Show | 83 | 370 | 0.2243 | 5 | c.33+ others(20): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 1/8 | chr22 | TogoVar | ||||||
| ATP6V1E2_chr2_46506847_46547577 | 46518811 | T | TGTGTG | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG00639.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0081others(1): Show | 4 | 410 | 0.0098 | 5 | c.-10 others(24): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
| ATP6V1E2_chr2_46506847_46547577 | 46525461 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00738.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0020a0001c0001t0001g0045a0001c0001t0001g0047others(30): Show | 35 | 410 | 0.0854 | 5 | c.-10 others(26): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
| ATP6V1FNB_chr7_128861330_128877047 | 128861347 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
a0001a0005a0008 | a0001c0001a0005c0005a0008c0009 | a0001c0001t0004a0001c0001t0007a0001c0001t0017others(2): Show | a0001c0001t0004g0004a0001c0001t0007g0005a0001c0001t0017g0004others(2): Show | 8 | 442 | 0.0181 | 5 | c.-50 others(16): Show |
ATP6V1FNB | ENSG00000272899.4 | transcript | ENST00000609480.4 | protein_coding | 4982 | chr7 | TogoVar | ||||||
| ATP6V1FNB_chr7_128861330_128877047 | 128861823 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02056.hp1 HG02129.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0006a0001c0001t0005g0009a0001c0001t0005g0014others(1): Show | 12 | 442 | 0.0272 | 5 | c.-45 others(16): Show |
ATP6V1FNB | ENSG00000272899.4 | transcript | ENST00000609480.4 | protein_coding | 4506 | chr7 | TogoVar | ||||||
| ATP6V1F_chr7_128857856_128870847 | 128861347 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG02257.hp2 HG02258.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017a0001c0001t0002g0005a0001c0001t0002g0008others(1): Show | 10 | 442 | 0.0226 | 5 | c.-15 others(16): Show |
ATP6V1F | ENSG00000128524.5 | transcript | ENST00000249289.5 | protein_coding | 1508 | chr7 | TogoVar | ||||||
| ATP6V1F_chr7_128857856_128870847 | 128861823 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02056.hp1 HG02129.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009a0001c0002t0001g0006a0001c0002t0001g0038 | 13 | 442 | 0.0294 | 5 | c.-10 others(16): Show |
ATP6V1F | ENSG00000128524.5 | transcript | ENST00000249289.5 | protein_coding | 1032 | chr7 | TogoVar | ||||||
| ATP6V1G1_chr9_114582769_114603879 | 114596986 | C | CTTTTT | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 NA18961.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0035a0001c0001t0006g0059a0001c0001t0006g0060others(3): Show | 7 | 420 | 0.0167 | 5 | c.184 others(20): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| ATP6V1G1_chr9_114582769_114603879 | 114598990 | G | GTTTTT | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00642.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(16): Show | 29 | 420 | 0.0691 | 5 | c.*12 others(16): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 112 | chr9 | TogoVar | ||||||
| ATP6V1H_chr8_53710543_53848245 | 53765454 | A | AACAAC | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01071.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0262a0001c0001t0003g0002a0001c0001t0003g0003others(2): Show | 5 | 286 | 0.0175 | 5 | c.117 others(24): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | TogoVar | ||||||
| ATP7A_chrX_77905693_78055395 | 77956726 | C | CCCTTT | intron_variant | MODIFIER | HG02886.hp1 | a0005 | a0005c0006 | a0005c0006t0008 | a0005c0006t0008g0119 | 1 | 233 | 0.0043 | 5 | c.-21 others(24): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP7A_chrX_77905693_78055395 | 77956726 | C | CTCTTT | intron_variant | MODIFIER | HG00558.hp2 HG02015.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0005a0001c0001t0010a0001c0014t0005 | a0001c0001t0005g0126a0001c0001t0005g0128a0001c0001t0005g0130others(4): Show | 7 | 233 | 0.0300 | 5 | c.-21 others(24): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | TogoVar | ||||||
| ATP7A_chrX_77905693_78055395 | 77987444 | T | TGTGTG | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 233 | 0.0043 | 5 | c.121 others(20): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | TogoVar | ||||||
| ATP7A_chrX_77905693_78055395 | 77987455 | T | TGTGTG | intron_variant | MODIFIER | NA18987.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0074 | 1 | 233 | 0.0043 | 5 | c.121 others(20): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP7A_chrX_77905693_78055395 | 78011679 | G | GTGAAT | intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0148 | 1 | 233 | 0.0043 | 5 | c.217 others(19): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP7A_chrX_77905693_78055395 | 78035831 | T | TCTTCA | intron_variant | MODIFIER | NA18985.hp1 | a0012 | a0012c0013 | a0012c0013t0017 | a0012c0013t0017g0102 | 1 | 233 | 0.0043 | 5 | c.351 others(24): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP7B_chr13_51927669_52016450 | 51972411 | C | CTCAAT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(149): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0025a0002c0002others(23): Show | a0001c0001t0001a0001c0025t0003a0002c0002t0002others(42): Show | a0001c0001t0001g0239a0001c0001t0001g0277a0001c0025t0003g0147others(139): Show | 152 | 302 | 0.5033 | 5 | c.128 others(24): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 2/20 | chr13 | TogoVar | ||||||
| ATP7B_chr13_51927669_52016450 | 51992979 | C | CAAAAA | intron_variant | MODIFIER | HG01099.hp2 HG01123.hp1 HG01168.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0002c0002t0002a0003c0003t0016 | a0001c0001t0003g0118a0001c0001t0003g0119a0001c0001t0003g0144others(4): Show | 7 | 302 | 0.0232 | 5 | c.52- others(22): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 1/20 | chr13 | TogoVar | ||||||
| ATP7B_chr13_51927669_52016450 | 52011455 | T | TCGGCG | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(98): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0011others(13): Show | a0001c0001t0003a0002c0002t0002a0002c0002t0007others(20): Show | a0001c0001t0003g0056a0001c0001t0003g0111a0002c0002t0002g0002others(91): Show | 101 | 302 | 0.3344 | 5 | c.-12 others(14): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 6 | chr13 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42435461 | A | AAAAAC | intron_variant | MODIFIER | HG00280.hp2 HG01255.hp1 HG02055.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0025 | a0001c0001t0006g0252a0001c0001t0007g0045a0001c0001t0007g0083others(7): Show | 10 | 310 | 0.0323 | 5 | c.312 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 33/36 | chr4 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42446080 | C | CAAAAA | intron_variant | MODIFIER | HG00738.hp1 HG01257.hp1 HG01358.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(3): Show | a0001c0001t0001g0127a0001c0001t0001g0129a0001c0001t0010g0291others(8): Show | 11 | 310 | 0.0355 | 5 | c.295 others(22): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 31/36 | chr4 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42500365 | A | AAAAAC | intron_variant | MODIFIER | HG00558.hp2 HG01099.hp2 HG01175.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(8): Show | a0001c0001t0002g0132a0001c0001t0006g0235a0001c0001t0010g0291others(11): Show | 14 | 310 | 0.0452 | 5 | c.215 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 24/36 | chr4 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42507729 | C | CAAAAA | intron_variant | MODIFIER | HG01255.hp1 HG01928.hp2 HG02273.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0007a0001c0002t0004a0001c0002t0013others(4): Show | a0001c0001t0007g0045a0001c0001t0007g0116a0001c0001t0007g0118others(6): Show | 9 | 310 | 0.0290 | 5 | c.194 others(22): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 22/36 | chr4 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42507780 | T | TAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG02258.hp1 HG02258.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0004t0004others(1): Show | a0001c0001t0001g0072a0001c0001t0005g0309a0001c0004t0004g0110others(6): Show | 9 | 310 | 0.0290 | 5 | c.194 others(22): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 22/36 | chr4 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42576475 | C | CAAAAA | intron_variant | MODIFIER | HG01169.hp1 HG01361.hp1 HG01943.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0012 | a0001c0001t0002g0144a0001c0001t0002g0148a0001c0001t0003g0267others(3): Show | 6 | 310 | 0.0194 | 5 | c.112 others(22): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 12/36 | chr4 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42653294 | C | CCATAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(198): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0027a0001c0001t0001g0050a0001c0001t0001g0053others(198): Show | 201 | 310 | 0.6484 | 5 | c.49+ others(20): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42657253 | T | TCGCCC | upstream_gene_variant | MODIFIER | NA18952.hp2 NA18969.hp1 NA18978.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0003g0243a0001c0001t0003g0261a0001c0001t0003g0262others(4): Show | 7 | 310 | 0.0226 | 5 | c.-38 others(14): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 149 | chr4 | TogoVar | ||||||
| ATP8A2_chr13_25366974_26030851 | 25389983 | C | CTTTTG | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0005a0001c0001t0041a0001c0001t0046others(5): Show | a0001c0001t0005g0102a0001c0001t0041g0044a0001c0001t0046g0045others(5): Show | 8 | 122 | 0.0656 | 5 | c.76+ others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25393133 | C | CTTTTT | intron_variant | MODIFIER | HG01074.hp1 HG02273.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0015a0001c0001t0041a0001c0002t0003others(4): Show | a0001c0001t0015g0016a0001c0001t0041g0044a0001c0002t0003g0088others(4): Show | 7 | 122 | 0.0574 | 5 | c.76+ others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25399397 | C | CTTTTT | intron_variant | MODIFIER | HG01069.hp2 HG02015.hp2 HG02698.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0015a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0015g0082a0001c0002t0001g0083a0001c0002t0002g0037others(5): Show | 8 | 122 | 0.0656 | 5 | c.76+ others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25465711 | C | CTTTCT | intron_variant | MODIFIER | HG01109.hp1 HG02622.hp1 HG02965.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0008a0001c0001t0040a0001c0001t0041others(6): Show | a0001c0001t0008g0073a0001c0001t0040g0038a0001c0001t0041g0044others(6): Show | 9 | 122 | 0.0738 | 5 | c.77- others(20): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25465715 | C | CTTTCT | intron_variant | MODIFIER | HG02280.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0066a0001c0009t0037 | a0001c0001t0066g0092a0001c0009t0037g0008 | 2 | 122 | 0.0164 | 5 | c.77- others(20): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25643990 | C | CTATTT | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00738.hp1 others(113): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(100): Show | a0001c0001t0001g0036a0001c0001t0002g0079a0001c0001t0003g0093others(113): Show | 116 | 122 | 0.9508 | 5 | c.221 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25646671 | A | AAAAAC | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG00741.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0024others(16): Show | a0001c0001t0001g0036a0001c0001t0002g0079a0001c0001t0024g0003others(20): Show | 23 | 122 | 0.1885 | 5 | c.221 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | chr13 | TogoVar | ||||||
| ATP8A2_chr13_25366974_26030851 | 25717418 | T | TAAAAA | intron_variant | MODIFIER | HG02258.hp1 HG02895.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0066a0001c0003t0069a0001c0006t0020others(1): Show | a0001c0001t0066g0092a0001c0003t0069g0012a0001c0006t0020g0085others(1): Show | 4 | 122 | 0.0328 | 5 | c.238 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25730070 | G | GCCCAC | intron_variant | MODIFIER | HG01081.hp1 HG02015.hp2 HG02258.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0008a0001c0001t0009a0001c0001t0010others(19): Show | a0001c0001t0008g0073a0001c0001t0009g0065a0001c0001t0010g0100others(20): Show | 23 | 122 | 0.1885 | 5 | c.238 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25762268 | C | CAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0010a0001c0003t0073a0001c0004t0068others(1): Show | a0001c0002t0010g0118a0001c0003t0073g0001a0001c0004t0068g0071others(1): Show | 4 | 122 | 0.0328 | 5 | c.238 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25793035 | G | GGAGAA | intron_variant | MODIFIER | HG02015.hp1 HG02257.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0039a0001c0003t0010a0001c0003t0014others(1): Show | a0001c0002t0039g0099a0001c0003t0010g0026a0001c0003t0014g0111others(1): Show | 4 | 122 | 0.0328 | 5 | c.267 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25813382 | T | TATATG | intron_variant | MODIFIER | HG01074.hp1 HG02257.hp1 HG02280.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0005a0001c0001t0015a0001c0001t0016others(12): Show | a0001c0001t0005g0102a0001c0001t0015g0016a0001c0001t0016g0104others(14): Show | 17 | 122 | 0.1393 | 5 | c.268 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25857546 | G | GTTTCT | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp1 HG03540.hp2 |
a0001 | a0001c0004a0001c0016 | a0001c0004t0003a0001c0004t0068a0001c0016t0045 | a0001c0004t0003g0007a0001c0004t0068g0071a0001c0016t0045g0105 | 3 | 122 | 0.0246 | 5 | c.295 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25859202 | A | AAAAAC | intron_variant | MODIFIER | HG01496.hp1 HG02895.hp2 HG03486.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0063a0001c0003t0052a0001c0005t0044others(2): Show | a0001c0002t0063g0050a0001c0003t0052g0113a0001c0005t0044g0018others(2): Show | 5 | 122 | 0.0410 | 5 | c.295 others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25891317 | C | CTTTTG | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01261.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0001t0042a0001c0002t0001others(3): Show | a0001c0001t0018g0041a0001c0001t0042g0059a0001c0002t0001g0039others(3): Show | 6 | 122 | 0.0492 | 5 | c.318 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8B1_chr18_57641426_57808315 | 57661714 | T | TATATA | intron_variant | MODIFIER | HG00733.hp1 HG01361.hp2 HG02055.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0077a0001c0001t0003g0269others(4): Show | 7 | 314 | 0.0223 | 5 | c.241 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 21/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57667208 | T | TTTTTA | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG00735.hp1 others(23): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0086a0001c0001t0001g0098others(23): Show | 26 | 314 | 0.0828 | 5 | c.221 others(20): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 19/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57668554 | T | TAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(69): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0003a0001c0001t0001g0067a0001c0001t0001g0086others(69): Show | 72 | 314 | 0.2293 | 5 | c.209 others(20): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 18/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57680585 | A | AAAAAC | intron_variant | MODIFIER | HG00558.hp2 HG00733.hp1 HG00738.hp1 others(85): Show |
a0001a0007a0010 | a0001c0001a0001c0014a0001c0018others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0001g0015others(85): Show | 88 | 314 | 0.2803 | 5 | c.163 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar |