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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP6V0C_chr16_2508952_2525218 | 2517713 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG03688.hp1 NA18957.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0014a0001c0001t0001g0046a0001c0003t0001g0014 | 4 | 336 | 0.0119 | -8 | c.80- others(23): Show |
ATP6V0C | ENSG00000185883.12 | transcript | ENST00000330398.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP6V0C_chr16_2508952_2525218 | 2520251 | GGGGCGGG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00558.hp2 HG03209.hp1 HG03209.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0031a0001c0001t0001g0066others(1): Show | 6 | 336 | 0.0179 | -8 | c.*50 others(17): Show |
ATP6V0C | ENSG00000185883.12 | transcript | ENST00000330398.9 | protein_coding | 34 | chr16 | TogoVar | ||||||
ATP6V0D1_chr16_67433019_67486157 | 67433721 | CACACACA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp1 HG02280.hp2 HG02451.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0002a0001c0001t0003g0003a0001c0001t0003g0020others(13): Show | 21 | 174 | 0.1207 | -8 | c.*47 others(19): Show |
ATP6V0D1 | ENSG00000159720.13 | transcript | ENST00000290949.8 | protein_coding | 4297 | chr16 | TogoVar | ||||||
ATP6V0D1_chr16_67433019_67486157 | 67434127 | CTCCAAGA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01496.hp1 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076a0001c0001t0001g0151 | 2 | 174 | 0.0115 | -8 | c.*43 others(19): Show |
ATP6V0D1 | ENSG00000159720.13 | transcript | ENST00000290949.8 | protein_coding | 3891 | chr16 | TogoVar | ||||||
ATP6V0D1_chr16_67433019_67486157 | 67466326 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02280.hp1 HG02615.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0080a0001c0001t0002g0012a0001c0001t0002g0013others(6): Show | 13 | 174 | 0.0747 | -8 | c.131 others(27): Show |
ATP6V0D1 | ENSG00000159720.13 | transcript | ENST00000290949.8 | protein_coding | 1/7 | chr16 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86095170 | TTAAATAA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02630.hp1 HG02886.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0002c0002t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0008g0283others(1): Show | 4 | 360 | 0.0111 | -8 | c.-38 others(19): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 3739 | chr8 | TogoVar | ||||||
ATP6V0D2_chr8_86093910_86159225 | 86145313 | AGAAAGAA others(1): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0262a0001c0001t0002g0263a0001c0001t0002g0264 | 3 | 360 | 0.0083 | -8 | c.639 others(25): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0D2_chr8_86093910_86159225 | 86145349 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02145.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0112a0001c0001t0004g0113a0001c0001t0004g0114others(2): Show | 5 | 360 | 0.0139 | -8 | c.639 others(25): Show |
ATP6V0D2 | ENSG00000147614.4 | transcript | ENST00000285393.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 172981383 | GAGGAAGG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01884.hp1 HG01891.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0113a0001c0001t0001g0128a0001c0001t0001g0204others(22): Show | 25 | 292 | 0.0856 | -8 | c.-24 others(19): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 2387 | chr5 | TogoVar | ||||||
ATP6V0E1_chr5_172978771_173040445 | 172986777 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp2 HG01243.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0001g0207others(14): Show | 17 | 292 | 0.0582 | -8 | c.104 others(25): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V0E1_chr5_172978771_173040445 | 173030921 | GTATTTAT others(1): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02630.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0005a0001c0001t0001g0085a0001c0001t0001g0086others(8): Show | 12 | 292 | 0.0411 | -8 | c.*37 others(25): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP6V0E2_chr7_149868969_149885695 | 149883990 | TGGAGGGA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0002g0003a0001c0001t0002g0012others(9): Show | 79 | 438 | 0.1804 | -8 | c.*46 others(19): Show |
ATP6V0E2 | ENSG00000171130.19 | transcript | ENST00000425642.3 | protein_coding | 3296 | chr7 | TogoVar | ||||||
ATP6V1A_chr3_113742035_113817056 | 113749263 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG02818.hp1 HG02895.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0136a0001c0001t0004g0021a0001c0001t0004g0022others(3): Show | 6 | 312 | 0.0192 | -8 | c.-14 others(25): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1A_chr3_113742035_113817056 | 113770029 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(114): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0036a0001c0001t0001g0109a0001c0001t0001g0110others(103): Show | 117 | 312 | 0.3750 | -8 | c.-13 others(25): Show |
ATP6V1A | ENSG00000114573.12 | transcript | ENST00000273398.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70940907 | CTTTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01261.hp2 HG01891.hp1 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(6): Show | a0001c0001t0001g0057a0001c0002t0001g0004a0001c0002t0001g0012others(17): Show | 24 | 440 | 0.0546 | -8 | c.119 others(25): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1B1_chr2_70930900_70970431 | 70945701 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG02056.hp2 HG02572.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0008a0003c0016others(1): Show | a0001c0002t0001a0002c0008t0002a0003c0016t0001others(1): Show | a0001c0002t0001g0146a0002c0008t0002g0367a0002c0008t0002g0368others(8): Show | 12 | 440 | 0.0273 | -8 | c.174 others(25): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103032004 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0026others(3): Show | a0001c0001t0002g0003a0001c0001t0002g0008a0001c0001t0002g0014others(60): Show | 86 | 412 | 0.2087 | -8 | c.-39 others(25): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C1_chr8_103016083_103078051 | 103059890 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0001g0040others(208): Show | 291 | 412 | 0.7063 | -8 | c.642 others(25): Show |
ATP6V1C1 | ENSG00000155097.12 | transcript | ENST00000518738.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10741892 | CTCCTTCC others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(312): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0015others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(39): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(309): Show | 315 | 354 | 0.8898 | -8 | c.198 others(27): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1C2_chr2_10716630_10790110 | 10757003 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00597.hp1 others(70): Show |
a0001a0002 | a0001c0001a0001c0016a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0025a0001c0001t0001g0047others(69): Show | 73 | 354 | 0.2062 | -8 | c.283 others(25): Show |
ATP6V1C2 | ENSG00000143882.12 | transcript | ENST00000272238.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP6V1D_chr14_67332872_67364804 | 67342181 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(122): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0176a0001c0001t0002g0002a0001c0001t0002g0004others(67): Show | 125 | 348 | 0.3592 | -8 | c.523 others(25): Show |
ATP6V1D | ENSG00000100554.12 | transcript | ENST00000216442.12 | protein_coding | 7/8 | chr14 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17609110 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00733.hp1 others(33): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(23): Show | 36 | 370 | 0.0973 | -8 | c.276 others(25): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 4/8 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17618681 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00733.hp1 others(53): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(41): Show | 56 | 370 | 0.1514 | -8 | c.99+ others(21): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2/8 | chr22 | TogoVar | ||||||
ATP6V1E1_chr22_17587136_17633749 | 17631658 | ATGTGTGT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01243.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0263a0001c0001t0002g0264a0001c0001t0002g0266others(26): Show | 31 | 370 | 0.0838 | -8 | c.-30 others(19): Show |
ATP6V1E1 | ENSG00000131100.13 | transcript | ENST00000253413.10 | protein_coding | 2910 | chr22 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46518490 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG02109.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002a0001c0002t0003 | a0001c0001t0004g0124a0001c0002t0002g0030a0001c0002t0002g0212others(7): Show | 11 | 410 | 0.0268 | -8 | c.-10 others(27): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46518758 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG03486.hp2 NA18948.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0003g0175a0001c0001t0004g0009a0001c0001t0004g0024others(3): Show | 10 | 410 | 0.0244 | -8 | c.-10 others(27): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46533203 | GTAGATAG others(1): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01071.hp1 others(23): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0291a0001c0001t0002g0039a0001c0001t0002g0190others(21): Show | 26 | 410 | 0.0634 | -8 | c.-10 others(27): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46546468 | ATATATGT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02300.hp2 HG03490.hp1 NA18945.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0045a0001c0001t0001g0061a0001c0001t0001g0066others(3): Show | 6 | 410 | 0.0146 | -8 | c.-46 others(19): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 3892 | chr2 | TogoVar | ||||||
ATP6V1E2_chr2_46506847_46547577 | 46546511 | TGTATATA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01516.hp1 HG01516.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0045a0001c0001t0001g0061a0001c0001t0001g0066others(14): Show | 18 | 410 | 0.0439 | -8 | c.-46 others(19): Show |
ATP6V1E2 | ENSG00000250565.7 | transcript | ENST00000522587.6 | protein_coding | 3935 | chr2 | TogoVar | ||||||
ATP6V1G1_chr9_114582769_114603879 | 114588436 | GGCGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp2 others(86): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(1): Show | a0001c0001t0001g0196a0001c0001t0002g0001a0001c0001t0002g0008others(33): Show | 89 | 420 | 0.2119 | -8 | c.82+ others(21): Show |
ATP6V1G1 | ENSG00000136888.8 | transcript | ENST00000374050.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ATP6V1H_chr8_53710543_53848245 | 53755685 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG00735.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0037a0001c0001t0001g0048a0001c0001t0001g0049others(10): Show | 13 | 286 | 0.0455 | -8 | c.127 others(25): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53765454 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02027.hp1 HG02083.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0012a0001c0001t0001g0017a0001c0001t0001g0044others(9): Show | 12 | 286 | 0.0420 | -8 | c.117 others(27): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 11/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53819547 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp1 HG03486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0010a0001c0001t0002g0253a0001c0001t0002g0254others(4): Show | 7 | 286 | 0.0245 | -8 | c.307 others(25): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 4/13 | chr8 | TogoVar | ||||||
ATP6V1H_chr8_53710543_53848245 | 53845264 | AGACTGGT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02886.hp1 HG03209.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257a0001c0001t0002g0258a0001c0001t0002g0261 | 3 | 286 | 0.0105 | -8 | c.-22 others(19): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2020 | chr8 | TogoVar | ||||||
ATP7A_chrX_77905693_78055395 | 77948059 | ATATTTAT others(1): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0023 | a0001c0001t0005g0003a0001c0001t0023g0002 | 2 | 233 | 0.0086 | -8 | c.-21 others(27): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 77948100 | TATTCATT others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0058 | 1 | 233 | 0.0043 | -8 | c.-21 others(27): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 77956726 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00735.hp1 others(8): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0016 | a0001c0001t0001a0002c0002t0002a0007c0016t0007 | a0001c0001t0001g0025a0001c0001t0001g0088a0001c0001t0001g0092others(8): Show | 11 | 233 | 0.0472 | -8 | c.-21 others(27): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78002799 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0042 | 1 | 233 | 0.0043 | -8 | c.154 others(25): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP7A_chrX_77905693_78055395 | 78027993 | GTATTTAT others(1): Show |
G | intron_variant | MODIFIER | HG00609.hp1 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002 | a0001c0001t0004g0210a0002c0002t0002g0042 | 2 | 233 | 0.0086 | -8 | c.291 others(27): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP8A1_chr4_42403373_42662105 | 42435442 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG01515.hp1 HG01993.hp2 HG02300.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(1): Show | a0001c0001t0001g0112a0001c0001t0008g0017a0001c0001t0008g0077others(5): Show | 8 | 310 | 0.0258 | -8 | c.312 others(27): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 33/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555085 | GTATCTAT others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG01255.hp1 HG01943.hp1 others(12): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0053a0001c0001t0001g0059a0001c0001t0001g0069others(12): Show | 15 | 310 | 0.0484 | -8 | c.141 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555135 | ATCTAATC others(1): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG03209.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0018a0002c0005t0019 | a0001c0001t0002g0038a0001c0001t0018g0162a0002c0005t0019g0138 | 3 | 310 | 0.0097 | -8 | c.141 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555138 | TAATCTAT others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG01884.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0004g0025a0001c0001t0005g0186a0001c0001t0005g0199others(3): Show | 6 | 310 | 0.0194 | -8 | c.141 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42555139 | AATCTATC others(1): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01175.hp2 HG01243.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0156a0001c0001t0001g0157a0001c0001t0002g0132others(11): Show | 14 | 310 | 0.0452 | -8 | c.141 others(25): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 16/36 | chr4 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42635780 | CACATATA others(1): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02886.hp1 HG03098.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0009a0002c0005t0019a0002c0005t0034 | a0001c0002t0009g0185a0002c0005t0019g0138a0002c0005t0019g0139others(1): Show | 4 | 310 | 0.0129 | -8 | c.50- others(23): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 1/36 | chr4 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25465663 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01358.hp1 HG03195.hp1 |
a0001 | a0001c0002a0001c0005a0001c0021 | a0001c0002t0001a0001c0005t0021a0001c0021t0055 | a0001c0002t0001g0069a0001c0005t0021g0030a0001c0021t0055g0077 | 3 | 122 | 0.0246 | -8 | c.77- others(23): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25465755 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG02015.hp1 HG02258.hp1 HG02273.hp1 others(5): Show |
a0001 | a0001c0003a0001c0007 | a0001c0003t0001a0001c0003t0006a0001c0003t0007others(5): Show | a0001c0003t0001g0106a0001c0003t0006g0078a0001c0003t0007g0109others(5): Show | 8 | 122 | 0.0656 | -8 | c.77- others(23): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25507257 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG01358.hp1 HG03486.hp1 HG06807.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0010a0001c0002t0005a0001c0003t0052others(2): Show | a0001c0001t0010g0100a0001c0002t0005g0034a0001c0003t0052g0113others(2): Show | 5 | 122 | 0.0410 | -8 | c.222 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25513977 | TGGGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG03579.hp2 NA19030.hp1 |
a0001 | a0001c0008 | a0001c0008t0013a0001c0008t0033a0001c0008t0057 | a0001c0008t0013g0074a0001c0008t0033g0075a0001c0008t0057g0070 | 3 | 122 | 0.0246 | -8 | c.222 others(27): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8A2_chr13_25366974_26030851 | 25524886 | ACTTCCTT others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01081.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0074a0001c0002t0001a0001c0002t0003others(18): Show | a0001c0001t0074g0116a0001c0002t0001g0032a0001c0002t0001g0035others(21): Show | 24 | 122 | 0.1967 | -8 | c.222 others(25): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |