| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ATP6V1A_chr3_113742035_113817056 | 113771170 | GTTTGT | G | intron_variant | MODIFIER | HG01891.hp2 HG01934.hp2 HG01952.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0137a0001c0001t0006g0010a0001c0001t0006g0138others(5): Show | 9 | 312 | 0.0289 | -5 | c.-13 others(22): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP6V1A_chr3_113742035_113817056 | 113808145 | CAAAGA | C | intron_variant | MODIFIER | HG01891.hp2 HG03098.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0019 | a0001c0001t0007g0281a0001c0001t0007g0282a0001c0001t0019g0283 | 3 | 312 | 0.0096 | -5 | c.176 others(24): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ATP6V1B1_chr2_70930900_70970431 | 70966592 | AAAAAG | A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0017a0001c0035others(4): Show | a0001c0001t0001a0001c0017t0004a0001c0017t0009others(5): Show | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0031others(12): Show | 15 | 440 | 0.0341 | -5 | c.*14 others(16): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1162 | chr2 | TogoVar | ||||||
| ATP6V1C2_chr2_10716630_10790110 | 10719586 | AGTTTT | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01099.hp2 HG01255.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0113a0001c0001t0001g0210a0001c0001t0001g0211others(26): Show | 29 | 354 | 0.0819 | -5 | c.-21 others(16): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 2043 | chr2 | TogoVar | ||||||
| ATP6V1C2_chr2_10716630_10790110 | 10749130 | CAAAAA | C | intron_variant | MODIFIER | HG01070.hp2 HG02280.hp2 HG02965.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0016a0002c0002t0001a0002c0002t0007others(2): Show | a0001c0001t0016g0220a0002c0002t0001g0096a0002c0002t0001g0161others(3): Show | 6 | 354 | 0.0170 | -5 | c.198 others(22): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ATP6V1C2_chr2_10716630_10790110 | 10767808 | ATTTAT | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01192.hp1 |
a0002 | a0002c0007 | a0002c0007t0009 | a0002c0007t0009g0028a0002c0007t0009g0029a0002c0007t0009g0151 | 3 | 354 | 0.0085 | -5 | c.379 others(20): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ATP6V1C2_chr2_10716630_10790110 | 10789407 | GAAAAC | G | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01433.hp2 HG01934.hp2 others(13): Show |
a0001a0002a0004 | a0001c0006a0002c0004a0004c0011 | a0001c0006t0005a0002c0004t0005a0004c0011t0017 | a0001c0006t0005g0042a0001c0006t0005g0308a0001c0006t0005g0337others(13): Show | 16 | 354 | 0.0452 | -5 | c.*61 others(16): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 4298 | chr2 | TogoVar | ||||||
| ATP6V1D_chr14_67332872_67364804 | 67355449 | CAAAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG02273.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0044a0001c0001t0001g0176a0001c0001t0002g0101others(2): Show | 6 | 348 | 0.0172 | -5 | c.42- others(20): Show |
ATP6V1D | ENSG00000100554.12 | transcript | ENST00000216442.12 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
| ATP6V1G3_chr1_198518222_198545680 | 198543384 | GTTATT | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00735.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0006a0001c0001t0001g0056a0001c0001t0001g0082others(2): Show | 14 | 405 | 0.0346 | -5 | c.-27 others(16): Show |
ATP6V1G3 | ENSG00000151418.12 | transcript | ENST00000367382.6 | protein_coding | 2705 | chr1 | TogoVar | ||||||
| ATP6V1H_chr8_53710543_53848245 | 53755735 | TATATA | T | intron_variant | MODIFIER | HG00741.hp1 NA18973.hp1 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0197a0001c0001t0001g0242 | 3 | 286 | 0.0105 | -5 | c.127 others(22): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
| ATP6V1H_chr8_53710543_53848245 | 53765451 | AACAAC | A | intron_variant | MODIFIER | HG01109.hp2 HG03041.hp2 NA18963.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0177a0001c0001t0001g0188a0001c0001t0001g0189others(5): Show | 8 | 286 | 0.0280 | -5 | c.117 others(24): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | TogoVar | ||||||
| ATP7A_chrX_77905693_78055395 | 77906971 | GTTGTT | G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG02572.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0005a0001c0001t0003g0015a0001c0001t0003g0016others(14): Show | 17 | 233 | 0.0730 | -5 | c.-38 others(16): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 3721 | chrX | TogoVar | ||||||
| ATP7A_chrX_77905693_78055395 | 77948058 | AATATT | A | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0174 | 1 | 233 | 0.0043 | -5 | c.-21 others(24): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | TogoVar | ||||||
| ATP7A_chrX_77905693_78055395 | 78013892 | CTAAGT | C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(80): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0003a0001c0001t0020a0002c0002t0002others(11): Show | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0020g0014others(79): Show | 83 | 233 | 0.3562 | -5 | c.240 others(22): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP7A_chrX_77905693_78055395 | 78014773 | CCTCTT | C | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 233 | 0.0043 | -5 | c.249 others(20): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP7B_chr13_51927669_52016450 | 51940000 | CTTTTT | C | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp2 HG01168.hp1 others(26): Show |
a0002a0003a0009others(2): Show | a0002c0002a0002c0014a0003c0003others(5): Show | a0002c0002t0002a0002c0002t0007a0002c0002t0009others(10): Show | a0002c0002t0002g0117a0002c0002t0002g0136a0002c0002t0007g0039others(24): Show | 29 | 302 | 0.0960 | -5 | c.355 others(22): Show |
ATP7B | ENSG00000123191.17 | transcript | ENST00000242839.10 | protein_coding | 16/20 | chr13 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42448828 | GTTTTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(89): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0112a0001c0001t0001g0152a0001c0001t0002g0051others(89): Show | 92 | 310 | 0.2968 | -5 | c.289 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 30/36 | chr4 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42500365 | AAAAAC | A | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00621.hp2 others(90): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0048others(90): Show | 93 | 310 | 0.3000 | -5 | c.215 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 24/36 | chr4 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42528371 | TGCCAC | T | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017 | a0001c0001t0003g0275a0001c0001t0003g0280a0001c0001t0003g0281others(2): Show | 5 | 310 | 0.0161 | -5 | c.172 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 20/36 | chr4 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42529929 | GCATGA | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02280.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0004a0001c0001t0015a0001c0002t0004others(2): Show | a0001c0001t0004g0043a0001c0001t0015g0011a0001c0002t0004g0018others(5): Show | 8 | 310 | 0.0258 | -5 | c.172 others(24): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 20/36 | chr4 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42555134 | TATCTA | T | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01169.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0004others(1): Show | a0001c0001t0001g0135a0001c0001t0001g0136a0001c0001t0002g0176others(3): Show | 6 | 310 | 0.0194 | -5 | c.141 others(22): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42651181 | CCATGT | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00738.hp1 others(48): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0129a0001c0001t0001g0143a0001c0001t0001g0146others(48): Show | 51 | 310 | 0.1645 | -5 | c.49+ others(20): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | ||||||
| ATP8A1_chr4_42403373_42662105 | 42660733 | AAAAAT | A | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01256.hp1 HG01884.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0002g0014a0001c0001t0002g0015a0001c0001t0002g0034others(13): Show | 16 | 310 | 0.0516 | -5 | c.-38 others(16): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 3629 | chr4 | TogoVar | ||||||
| ATP8A2_chr13_25366974_26030851 | 25446846 | ATTTTG | A | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01069.hp1 others(69): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(63): Show | a0001c0001t0002g0079a0001c0001t0004g0046a0001c0001t0009g0065others(69): Show | 72 | 122 | 0.5902 | -5 | c.77- others(22): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25490732 | TTTTTG | T | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01070.hp1 others(6): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(4): Show | a0001c0001t0001g0036a0001c0001t0003g0093a0001c0001t0011g0061others(6): Show | 9 | 122 | 0.0738 | -5 | c.221 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25531163 | ATATGT | A | intron_variant | MODIFIER | HG02615.hp1 HG02886.hp2 NA19030.hp2 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0024a0001c0001t0054a0001c0001t0064others(2): Show | a0001c0001t0024g0003a0001c0001t0054g0103a0001c0001t0064g0072others(2): Show | 5 | 122 | 0.0410 | -5 | c.420 others(20): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25531395 | TGATTA | T | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01175.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0004a0001c0001t0008a0001c0001t0010others(10): Show | a0001c0001t0004g0040a0001c0001t0004g0046a0001c0001t0008g0073others(11): Show | 14 | 122 | 0.1148 | -5 | c.420 others(20): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 4/36 | chr13 | TogoVar | ||||||
| ATP8A2_chr13_25366974_26030851 | 25601455 | GTTTGT | G | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG02055.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0003a0001c0001t0053a0001c0002t0001others(7): Show | a0001c0001t0003g0093a0001c0001t0053g0114a0001c0002t0001g0069others(7): Show | 10 | 122 | 0.0820 | -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 | 25688411 | GAAGAT | G | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01069.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(44): Show | a0001c0001t0003g0093a0001c0001t0004g0040a0001c0001t0004g0046others(47): Show | 50 | 122 | 0.4098 | -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 | 25738347 | CCCCCA | C | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01081.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0074others(9): Show | a0001c0001t0002g0079a0001c0001t0013g0005a0001c0001t0074g0116others(9): Show | 12 | 122 | 0.0984 | -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 | 25813382 | TATATG | T | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01069.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0018a0001c0001t0030others(13): Show | a0001c0001t0003g0093a0001c0001t0018g0041a0001c0001t0030g0087others(13): Show | 16 | 122 | 0.1312 | -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 | 25853397 | ATATAT | A | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01261.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0001t0042a0001c0002t0001others(1): Show | a0001c0001t0018g0041a0001c0001t0042g0059a0001c0002t0001g0039others(1): Show | 4 | 122 | 0.0328 | -5 | c.295 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 30/36 | chr13 | TogoVar | ||||||
| ATP8A2_chr13_25366974_26030851 | 25869068 | CAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01261.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0018a0001c0001t0030a0001c0001t0042others(11): Show | a0001c0001t0018g0041a0001c0001t0030g0087a0001c0001t0042g0059others(11): Show | 14 | 122 | 0.1148 | -5 | c.318 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25896509 | GTTGAT | G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01074.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0008a0001c0001t0010a0001c0001t0025others(29): Show | a0001c0001t0008g0073a0001c0001t0010g0100a0001c0001t0025g0009others(29): Show | 32 | 122 | 0.2623 | -5 | c.318 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25947430 | TGAGGC | T | intron_variant | MODIFIER | HG02723.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0030a0001c0007t0007 | a0001c0001t0030g0087a0001c0007t0007g0094 | 2 | 122 | 0.0164 | -5 | c.318 others(26): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | chr13 | TogoVar | ||||||
| ATP8A2_chr13_25366974_26030851 | 25953542 | AAAAAG | A | intron_variant | MODIFIER | HG01081.hp2 HG02257.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0025a0001c0002t0031a0001c0003t0008others(4): Show | a0001c0001t0025g0009a0001c0002t0031g0058a0001c0003t0008g0010others(4): Show | 7 | 122 | 0.0574 | -5 | c.318 others(24): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 33/36 | chr13 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57680277 | CAAAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01358.hp2 HG01993.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0066a0001c0001t0003g0236a0001c0001t0003g0239others(13): Show | 16 | 314 | 0.0510 | -5 | c.163 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57680585 | AAAAAC | A | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG00735.hp1 others(26): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0086a0001c0001t0001g0098others(26): Show | 29 | 314 | 0.0924 | -5 | c.163 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57690014 | TCAAAA | T | intron_variant | MODIFIER | HG02257.hp2 HG02630.hp2 HG02922.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0004g0122a0001c0001t0007g0212a0001c0001t0007g0247others(7): Show | 10 | 314 | 0.0319 | -5 | c.122 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 12/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57717547 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(47): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0035a0001c0001t0001g0049a0001c0001t0001g0058others(47): Show | 50 | 314 | 0.1592 | -5 | c.182 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57729549 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(162): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0014others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0006a0001c0001t0001g0016a0001c0001t0001g0043others(162): Show | 165 | 314 | 0.5255 | -5 | c.181 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 2/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57733705 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(151): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0014others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0006a0001c0001t0001g0016a0001c0001t0001g0043others(151): Show | 154 | 314 | 0.4905 | -5 | c.-25 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57738631 | TAAATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(304): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0010others(304): Show | 307 | 314 | 0.9777 | -5 | c.-25 others(22): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57759155 | CAAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG01168.hp2 HG02080.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0043a0001c0001t0002g0275a0001c0001t0004g0124others(11): Show | 14 | 314 | 0.0446 | -5 | c.-25 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57761112 | TATAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(61): Show |
a0001a0004 | a0001c0001a0001c0006a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0016a0001c0001t0001g0086a0001c0001t0001g0112others(61): Show | 64 | 314 | 0.2038 | -5 | c.-25 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57764757 | CAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG02280.hp1 HG02809.hp1 others(8): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0003g0195a0001c0001t0004g0113a0001c0001t0004g0122others(8): Show | 11 | 314 | 0.0350 | -5 | c.-25 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57768386 | CAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG02280.hp1 HG02818.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0004a0001c0001t0007a0001c0001t0010others(3): Show | a0001c0001t0004g0113a0001c0001t0004g0122a0001c0001t0007g0212others(6): Show | 9 | 314 | 0.0287 | -5 | c.-26 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
| ATP8B1_chr18_57641426_57808315 | 57782803 | CTTTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02818.hp2 HG02895.hp2 others(10): Show |
a0001a0003a0004 | a0001c0001a0001c0012a0001c0014others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0112others(10): Show | 13 | 314 | 0.0414 | -5 | c.-26 others(24): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
| ATP8B2_chr1_154320525_154356304 | 154333643 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(80): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0009others(8): Show | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0003t0002g0004others(47): Show | 83 | 382 | 0.2173 | -5 | c.590 others(20): Show |
ATP8B2 | ENSG00000143515.20 | transcript | ENST00000368489.6 | protein_coding | 9/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ATP8B4_chr15_49853238_50124233 | 49883827 | CAAGTA | C | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02622.hp2 |
a0004a0008 | a0004c0004a0008c0008 | a0004c0004t0009a0008c0008t0009a0008c0008t0017 | a0004c0004t0009g0091a0008c0008t0009g0178a0008c0008t0017g0025 | 3 | 254 | 0.0118 | -5 | c.269 others(24): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 23/27 | chr15 | TogoVar |