view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V0D2_chr8_86093910_86159225 | 86145370 | G | GAAAGAA | intron_variant | MODIFIER | HG00733.hp2 HG00741.hp2 HG01069.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0017 others(26): Show |
31 | 202 | 0.1535 | 6 | c.639 others(23): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86149052 | G | GAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG02145.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0040 a0001c0001t0001g0222 a0001c0001t0001g0275 others(2): Show |
5 | 60 | 0.0833 | 6 | c.640 others(23): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP6V0E1_chr5_172978771_173040445 | 173032253 | A | ATTTTAT | intron_variant | MODIFIER | HG01070.hp1 HG01934.hp1 HG02486.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0202 a0001c0001t0001g0203 others(5): Show |
8 | 164 | 0.0488 | 6 | c.*37 others(23): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP6V1A_chr3_113742035_113817056 | 113802249 | C | CAAACTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(126): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0137 a0001c0001t0001g0183 a0001c0001t0001g0222 others(113): Show |
129 | 310 | 0.4161 | 6 | c.149 others(25): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70945699 | G | GATATAT | intron_variant | MODIFIER | HG02165.hp2 HG04199.hp1 NA18952.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0003a0001c0002t0001a0001c0005t0001others(4): Show | a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0002t0001g0006 others(9): Show |
13 | 276 | 0.0471 | 6 | c.174 others(23): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70945701 | G | GATATAT | intron_variant | MODIFIER | HG01074.hp2 HG01346.hp2 HG02258.hp1 others(7): Show |
a0001a0002a0003 | a0001c0005a0001c0007a0001c0035others(5): Show | a0001c0005t0001a0001c0007t0001a0001c0035t0004others(5): Show | a0001c0005t0001g0104 a0001c0007t0001g0161 a0001c0035t0004g0155 others(7): Show |
10 | 73 | 0.1370 | 6 | c.174 others(23): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70950932 | A | ATTTTTT | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 NA18943.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0010others(1): Show | a0001c0001t0006a0001c0005t0001a0002c0010t0002others(1): Show | a0001c0001t0006g0363 a0001c0005t0001g0059 a0001c0005t0001g0184 others(4): Show |
7 | 174 | 0.0402 | 6 | c.175 others(23): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70957250 | A | AATGTAT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG01167.hp1 others(24): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(10): Show | a0001c0001t0001g0022 a0001c0001t0001g0116 a0001c0002t0001g0120 others(22): Show |
27 | 63 | 0.4286 | 6 | c.175 others(21): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1B1_chr2_70930900_70970431 | 70964114 | A | ATTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01255.hp1 HG01255.hp2 others(18): Show |
a0001a0002a0003 | a0001c0002a0001c0005a0002c0003others(3): Show | a0001c0002t0001a0001c0005t0001a0002c0003t0001others(3): Show | a0001c0002t0001g0003 a0001c0002t0001g0010 a0001c0002t0001g0023 others(18): Show |
21 | 64 | 0.3281 | 6 | c.114 others(23): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP6V1B2_chr8_20192381_20226696 | 20196736 | A | AAAGAAG | upstream_gene_variant | MODIFIER | HG02647.hp2 HG02818.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0045 a0001c0001t0001g0187 a0001c0001t0006g0128 |
4 | 317 | 0.0126 | 6 | c.-67 others(15): Show |
ATP6V1B2 | ENSG00000147416.11 | transcript | ENST00000276390.7 | protein_coding | 644 | chr8 | TogoVar | |||||||
ATP6V1C2_chr2_10716630_10790110 | 10788065 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG02080.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0002a0002c0002t0002a0002c0003t0002others(1): Show | a0001c0001t0002g0003 a0001c0001t0002g0198 a0001c0001t0002g0199 others(5): Show |
8 | 211 | 0.0379 | 6 | c.*48 others(17): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 2956 | chr2 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17599577 | C | CAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp1 HG01081.hp1 others(22): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0259 a0001c0001t0003g0258 a0001c0001t0003g0279 others(20): Show |
25 | 259 | 0.0965 | 6 | c.435 others(21): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 6/8 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17604526 | C | CTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00738.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0052 a0001c0001t0001g0139 a0001c0001t0001g0140 others(38): Show |
43 | 284 | 0.1514 | 6 | c.277 others(23): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 4/8 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17626325 | A | AAAAAAG | intron_variant | MODIFIER | HG00673.hp1 HG01109.hp2 HG01884.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0234 a0001c0001t0002g0280 a0001c0001t0002g0294 others(9): Show |
12 | 204 | 0.0588 | 6 | c.33+ others(21): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 1/8 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17629818 | T | TACACAC | upstream_gene_variant | MODIFIER | HG00673.hp1 HG02055.hp2 HG02280.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0002g0254 a0001c0001t0002g0265 a0001c0001t0002g0281 others(14): Show |
17 | 172 | 0.0988 | 6 | c.-11 others(17): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 1070 | chr22 | TogoVar | |||||||
ATP6V1E1_chr22_17587136_17633749 | 17631670 | G | GTGTGTA | upstream_gene_variant | MODIFIER | NA18959.hp2 NA18980.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0077 a0001c0001t0001g0161 a0001c0001t0007g0122 |
3 | 216 | 0.0139 | 6 | c.-30 others(17): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2922 | chr22 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46518490 | A | AACACAC | intron_variant | MODIFIER | HG01884.hp2 HG02040.hp2 HG02155.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0238 others(10): Show |
14 | 56 | 0.2500 | 6 | c.-10 others(25): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46518758 | T | TTGTGTG | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01099.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0029 others(8): Show |
16 | 35 | 0.4571 | 6 | c.-10 others(25): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
ATP6V1E2_chr2_46506847_46547577 | 46525461 | C | CAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG01106.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0029 others(15): Show |
23 | 364 | 0.0632 | 6 | c.-10 others(27): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
ATP6V1F_chr7_128857856_128870847 | 128858576 | T | TACACAC | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02818.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0030 |
3 | 261 | 0.0115 | 6 | c.-43 others(17): Show |
ATP6V1F | ENSG00000128524.5 | transcript | ENST00000249289.5 | protein_coding | 4279 | chr7 | TogoVar | |||||||
ATP6V1G1_chr9_114582769_114603879 | 114588510 | A | AGTGTGT | intron_variant | MODIFIER | HG01934.hp1 HG02717.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0032 a0001c0001t0002g0076 a0001c0001t0003g0077 others(1): Show |
6 | 49 | 0.1224 | 6 | c.82+ others(19): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ATP6V1G1_chr9_114582769_114603879 | 114598990 | G | GTTTTTT | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02559.hp1 HG02559.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0024 others(6): Show |
11 | 91 | 0.1209 | 6 | c.*12 others(17): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 112 | chr9 | TogoVar | |||||||
ATP6V1G3_chr1_198518222_198545680 | 198529195 | A | AATATAT | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0092 |
5 | 280 | 0.0179 | 6 | c.83- others(17): Show |
ATP6V1G3 | ENSG00000151418.12 | transcript | ENST00000367382.6 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53798610 | A | AACACAC | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00621.hp1 others(63): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0002 | a0001c0001t0001g0012 a0001c0001t0002g0002 a0001c0001t0002g0007 others(62): Show |
66 | 147 | 0.4490 | 6 | c.678 others(23): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 8/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53819547 | C | CATATAT | intron_variant | MODIFIER | HG01109.hp1 HG01258.hp1 HG01981.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(7): Show |
10 | 123 | 0.0813 | 6 | c.307 others(23): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | TogoVar | |||||||
ATP6V1H_chr8_53710543_53848245 | 53819585 | T | TATATAA | intron_variant | MODIFIER | HG01169.hp2 HG01257.hp2 HG03017.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0096 others(3): Show |
6 | 196 | 0.0306 | 6 | c.307 others(23): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | TogoVar | |||||||
ATP7A_chrX_77905693_78055395 | 77932919 | G | GGGGAGA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01884.hp2 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0009 | a0003c0004t0009g0130 a0003c0004t0009g0131 a0003c0004t0009g0132 others(2): Show |
5 | 221 | 0.0226 | 6 | c.-22 others(25): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77987444 | T | TTGTGTG | intron_variant | MODIFIER | HG00558.hp2 HG00733.hp2 HG01081.hp2 others(22): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0011a0002c0002others(2): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0010others(6): Show | a0001c0001t0004g0144 a0001c0001t0005g0011 a0001c0001t0005g0124 others(22): Show |
25 | 86 | 0.2907 | 6 | c.121 others(21): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 78002799 | T | TACACAC | intron_variant | MODIFIER | HG02922.hp2 NA19066.hp1 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0008a0002c0002t0002 | a0001c0001t0003g0016 a0001c0001t0008g0122 a0002c0002t0002g0040 |
3 | 127 | 0.0236 | 6 | c.154 others(23): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42435461 | A | AAAAAAC | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01257.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0210 a0001c0001t0006g0222 a0001c0001t0006g0230 others(13): Show |
16 | 151 | 0.1060 | 6 | c.312 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 33/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42468430 | T | TACACAC | intron_variant | MODIFIER | HG01515.hp1 HG01993.hp2 HG02273.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0112 a0001c0001t0002g0102 a0001c0001t0008g0065 others(4): Show |
7 | 69 | 0.1014 | 6 | c.232 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42479996 | T | TTGTGTG | intron_variant | MODIFIER | HG01099.hp2 HG01169.hp1 HG01243.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0053 a0001c0001t0003g0267 a0001c0001t0003g0268 others(8): Show |
11 | 53 | 0.2075 | 6 | c.232 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42507729 | C | CAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0001g0147 a0001c0001t0006g0192 a0001c0001t0006g0193 others(27): Show |
30 | 80 | 0.3750 | 6 | c.194 others(23): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 22/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42558030 | T | TCAAAAA | intron_variant | MODIFIER | HG01099.hp2 HG02257.hp1 HG02257.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(14): Show |
17 | 303 | 0.0561 | 6 | c.134 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 15/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42601535 | A | AAAAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0063 others(48): Show |
51 | 308 | 0.1656 | 6 | c.410 others(23): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 5/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42608363 | A | ATTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG01069.hp1 others(37): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0020 a0001c0001t0001g0055 a0001c0001t0002g0015 others(37): Show |
40 | 299 | 0.1338 | 6 | c.409 others(23): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 5/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635780 | C | CATATAT | intron_variant | MODIFIER | HG01192.hp1 HG02258.hp1 HG03834.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 others(5): Show |
8 | 232 | 0.0345 | 6 | c.50- others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A1_chr4_42403373_42662105 | 42635782 | C | CATATAT | intron_variant | MODIFIER | HG01952.hp1 HG02257.hp1 HG02451.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0058 a0001c0001t0003g0209 a0001c0001t0007g0078 others(6): Show |
9 | 80 | 0.1125 | 6 | c.50- others(21): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25393133 | C | CTTTTTT | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp2 HG01243.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0016others(24): Show | a0001c0001t0002g0079 a0001c0001t0005g0102 a0001c0001t0016g0104 others(25): Show |
28 | 100 | 0.2800 | 6 | c.76+ others(23): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25399397 | C | CTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG01175.hp1 HG01243.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0010a0001c0001t0013a0001c0001t0016others(36): Show | a0001c0001t0010g0100 a0001c0001t0013g0006 a0001c0001t0016g0104 others(37): Show |
40 | 49 | 0.8163 | 6 | c.76+ others(23): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25408670 | C | CTTACCT | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG00741.hp2 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(47): Show | a0001c0001t0001g0036 a0001c0001t0004g0040 a0001c0001t0009g0065 others(50): Show |
53 | 120 | 0.4417 | 6 | c.76+ others(23): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25461852 | A | AAGAAGG | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(26): Show | a0001c0001t0002g0079 a0001c0001t0004g0046 a0001c0001t0011g0062 others(28): Show |
31 | 82 | 0.3780 | 6 | c.77- others(21): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25465755 | C | CTCTCTT | intron_variant | MODIFIER | HG03130.hp1 HG03139.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0001a0001c0015a0001c0016 | a0001c0001t0025a0001c0001t0048a0001c0001t0072others(2): Show | a0001c0001t0025g0009 a0001c0001t0048g0122 a0001c0001t0072g0027 others(2): Show |
5 | 51 | 0.0980 | 6 | c.77- others(21): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25506940 | C | CATATAT | intron_variant | MODIFIER | HG01981.hp2 HG06807.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0040 a0001c0002t0001g0039 |
2 | 34 | 0.0588 | 6 | c.222 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25507219 | T | TTGTGTG | intron_variant | MODIFIER | NA19030.hp2 NA19043.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0054a0001c0001t0074 | a0001c0001t0024g0004 a0001c0001t0054g0103 a0001c0001t0074g0116 |
3 | 111 | 0.0270 | 6 | c.222 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25539060 | A | AGTGTGT | intron_variant | MODIFIER | HG01074.hp2 HG01261.hp2 HG02055.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0009a0001c0001t0017others(3): Show | a0001c0001t0003g0093 a0001c0001t0009g0065 a0001c0001t0017g0051 others(3): Show |
6 | 43 | 0.1395 | 6 | c.581 others(23): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25594984 | G | GTATATA | intron_variant | MODIFIER | HG02965.hp1 NA18906.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0030a0001c0001t0041 | a0001c0001t0008g0073 a0001c0001t0030g0091 a0001c0001t0041g0044 |
3 | 25 | 0.1200 | 6 | c.221 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25594984 | G | GTGTATA | intron_variant | MODIFIER | HG01358.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0046a0001c0005t0021 | a0001c0001t0046g0045 a0001c0005t0021g0030 |
2 | 24 | 0.0833 | 6 | c.221 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25646671 | A | AAAAAAC | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01081.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0016others(15): Show | a0001c0001t0003g0093 a0001c0001t0005g0102 a0001c0001t0016g0104 others(15): Show |
18 | 23 | 0.7826 | 6 | c.221 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 24/36 | chr13 | TogoVar | |||||||
ATP8A2_chr13_25366974_26030851 | 25701723 | A | AACACAC | intron_variant | MODIFIER | HG01081.hp2 HG01175.hp2 HG02258.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0005a0001c0001t0016a0001c0001t0019others(8): Show | a0001c0001t0005g0102 a0001c0001t0016g0104 a0001c0001t0019g0005 others(8): Show |
11 | 32 | 0.3438 | 6 | c.238 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |