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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP11C_chrX_139721348_139938053 | 139769281 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01891.hp1 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0183a0001c0001t0002g0185a0001c0001t0007g0230others(1): Show | 4 | 234 | 0.0171 | 16 | c.221 others(33): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 19/29 | chrX | TogoVar | ||||||
ATP11C_chrX_139721348_139938053 | 139866343 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01952.hp1 HG02293.hp1 others(8): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(3): Show | a0001c0001t0002g0186a0001c0001t0002g0192a0001c0001t0003g0189others(8): Show | 11 | 234 | 0.0470 | 16 | c.28- others(33): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24708900 | G | GGAAAGAA others(9): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 382 | 0.0026 | 16 | c.249 others(33): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGAAAG others(9): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00735.hp2 others(14): Show |
a0001a0004a0013 | a0001c0001a0001c0010a0004c0012others(1): Show | a0001c0001t0001a0001c0010t0001a0004c0012t0001others(1): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0046others(12): Show | 17 | 382 | 0.0445 | 16 | c.249 others(33): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGAAAG others(9): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0163 | 1 | 382 | 0.0026 | 16 | c.249 others(33): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP12A_chr13_24675408_24717472 | 24708946 | A | AAAGAAAG others(9): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0050a0001c0005t0001g0051 | 2 | 382 | 0.0052 | 16 | c.249 others(33): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP13A2_chr1_16980958_17016928 | 16994184 | G | GCGCTCTC others(9): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0036 | 1 | 366 | 0.0027 | 16 | c.154 others(33): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 15/28 | chr1 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194409693 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026 | a0001c0001t0002g0199a0001c0001t0002g0201a0001c0001t0002g0203others(3): Show | 6 | 304 | 0.0197 | 16 | c.357 others(35): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194417396 | G | GACACACA others(9): Show |
intron_variant | MODIFIER | NA18957.hp1 NA18957.hp2 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0016 | a0001c0001t0003g0053a0001c0001t0008g0150a0001c0001t0016g0290 | 3 | 304 | 0.0099 | 16 | c.340 others(35): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194417958 | C | CGGAAGGA others(9): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02257.hp2 HG04199.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0159a0001c0001t0005g0180a0001c0001t0008g0149others(4): Show | 7 | 304 | 0.0230 | 16 | c.340 others(35): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194417985 | A | AAGGAAGG others(9): Show |
intron_variant | MODIFIER | NA18986.hp2 NA18988.hp2 NA18993.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0027 | a0001c0001t0008g0147a0001c0001t0008g0155a0001c0001t0008g0156others(1): Show | 4 | 304 | 0.0132 | 16 | c.340 others(35): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194421944 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0180 | 1 | 304 | 0.0033 | 16 | c.331 others(35): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193504020 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0127 | 1 | 302 | 0.0033 | 16 | c.235 others(33): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 2/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193504020 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0139 | 1 | 302 | 0.0033 | 16 | c.235 others(33): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 2/29 | chr3 | TogoVar | ||||||
ATP13A4_chr3_193393967_193559895 | 193541248 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01346.hp1 NA19068.hp2 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0005 | a0002c0003t0001g0133a0002c0003t0005g0128 | 2 | 302 | 0.0066 | 16 | c.60+ others(33): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
ATP13A5_chr3_193269789_193383753 | 193270069 | A | AATACACA others(9): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 HG03490.hp2 |
a0001a0004 | a0001c0006a0004c0003 | a0001c0006t0001a0004c0003t0002 | a0001c0006t0001g0099a0004c0003t0002g0205 | 2 | 284 | 0.0070 | 16 | c.*49 others(27): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 4719 | chr3 | TogoVar | ||||||
ATP13A5_chr3_193269789_193383753 | 193362813 | C | CTTTCTTT others(9): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0187 | 1 | 284 | 0.0035 | 16 | c.385 others(31): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 3/29 | chr3 | TogoVar | ||||||
ATP13A5_chr3_193269789_193383753 | 193368392 | T | TTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02630.hp1 |
a0012a0024 | a0012c0021a0024c0035 | a0012c0021t0002a0024c0035t0001 | a0012c0021t0002g0263a0024c0035t0001g0171 | 2 | 284 | 0.0070 | 16 | c.64- others(31): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
ATP1A3_chr19_41961582_41999230 | 41972804 | G | GGGAAGGA others(9): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0071a0001c0001t0001g0072a0001c0001t0001g0107others(2): Show | 5 | 282 | 0.0177 | 16 | c.226 others(35): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 16/22 | chr19 | TogoVar | ||||||
ATP1A3_chr19_41961582_41999230 | 41972871 | A | AAAGAAGG others(9): Show |
intron_variant | MODIFIER | HG01891.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0261a0001c0001t0002g0263 | 2 | 282 | 0.0071 | 16 | c.226 others(35): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 16/22 | chr19 | TogoVar | ||||||
ATP1A3_chr19_41961582_41999230 | 41972889 | C | CGGAGGGA others(9): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02109.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021a0001c0001t0001g0261a0001c0001t0002g0022others(5): Show | 8 | 282 | 0.0284 | 16 | c.226 others(35): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 16/22 | chr19 | TogoVar | ||||||
ATP1A4_chr1_160146603_160191980 | 160150361 | G | GTATAGAT others(9): Show |
upstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0398 | 1 | 418 | 0.0024 | 16 | c.-16 others(27): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 1241 | chr1 | TogoVar | ||||||
ATP1A4_chr1_160146603_160191980 | 160186086 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01081.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(9): Show | a0001c0001t0001g0267a0001c0001t0001g0268a0001c0001t0001g0347others(25): Show | 29 | 418 | 0.0694 | 16 | c.297 others(33): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP1B1_chr1_169101690_169137719 | 169135014 | C | CAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0338 | 1 | 412 | 0.0024 | 16 | c.*34 others(27): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 2296 | chr1 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AAAAAAAA others(9): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 408 | 0.0025 | 16 | c.-23 others(27): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AAAAAATA others(9): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 408 | 0.0025 | 16 | c.-23 others(27): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | ||||||
ATP1B3_chr3_141871643_141931549 | 141879777 | T | TCAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00642.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0016others(2): Show | a0001c0001t0004g0010a0001c0001t0004g0336a0001c0001t0004g0344others(50): Show | 54 | 408 | 0.1324 | 16 | c.109 others(33): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2A2_chr12_110276247_110356093 | 110309140 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02004.hp2 HG03490.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0001c0001t0028a0002c0004t0003 | a0001c0001t0003g0193a0001c0001t0003g0204a0001c0001t0028g0207others(2): Show | 5 | 228 | 0.0219 | 16 | c.463 others(35): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2B1_chr12_89583049_89713838 | 89643065 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01071.hp1 others(9): Show |
a0001a0002 | a0001c0002a0002c0011 | a0001c0002t0001a0001c0002t0015a0002c0011t0001 | a0001c0002t0001g0038a0001c0002t0001g0040a0001c0002t0001g0041others(9): Show | 12 | 332 | 0.0361 | 16 | c.209 others(31): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89658598 | G | GGAGAGAG others(9): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01934.hp2 NA18942.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0003c0010t0001 | a0001c0001t0001g0164a0001c0001t0001g0190a0001c0001t0001g0195others(1): Show | 4 | 332 | 0.0121 | 16 | c.-22 others(35): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677954 | T | TTATATAT others(9): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03195.hp2 HG03710.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075a0001c0001t0001g0085a0001c0001t0001g0087others(2): Show | 5 | 332 | 0.0151 | 16 | c.-22 others(37): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677971 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0052 | 1 | 332 | 0.0030 | 16 | c.-22 others(37): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10439853 | T | TCAAGTGA others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00639.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0003a0001c0001t0025a0001c0001t0035others(18): Show | a0001c0001t0003g0219a0001c0001t0025g0154a0001c0001t0035g0116others(32): Show | 35 | 290 | 0.1207 | 16 | c.199 others(33): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 2/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10471364 | C | CTGAGTGT others(9): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02965.hp2 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0006a0001c0009t0043 | a0001c0002t0006g0005a0001c0009t0043g0022 | 2 | 290 | 0.0069 | 16 | c.-31 others(37): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10488232 | C | CCCATCCA others(9): Show |
intron_variant | MODIFIER | HG00733.hp1 HG04204.hp1 |
a0001 | a0001c0002a0001c0033 | a0001c0002t0008a0001c0033t0003 | a0001c0002t0008g0274a0001c0033t0003g0273 | 2 | 290 | 0.0069 | 16 | c.-32 others(37): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10488463 | A | ATTCATTC others(9): Show |
intron_variant | MODIFIER | NA18941.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0028a0001c0003t0001 | a0001c0001t0028g0160a0001c0003t0001g0014 | 2 | 290 | 0.0069 | 16 | c.-32 others(37): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10488463 | A | ATTCCTTC others(9): Show |
intron_variant | MODIFIER | HG01934.hp1 NA18961.hp2 NA19010.hp1 |
a0001 | a0001c0003a0001c0004a0001c0006 | a0001c0003t0001a0001c0004t0002a0001c0006t0003 | a0001c0003t0001g0263a0001c0004t0002g0264a0001c0006t0003g0017 | 3 | 290 | 0.0103 | 16 | c.-32 others(37): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10488511 | C | CTTCCTTC others(9): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01243.hp1 NA20905.hp1 |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0014a0001c0003t0001a0001c0006t0003 | a0001c0001t0014g0251a0001c0003t0001g0261a0001c0006t0003g0288 | 3 | 290 | 0.0103 | 16 | c.-32 others(37): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B3_chrX_153512642_153587929 | 153584577 | A | AAGGGAGG others(9): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0083 | 1 | 267 | 0.0038 | 16 | c.*42 others(27): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1649 | chrX | TogoVar | ||||||
ATP2B3_chrX_153512642_153587929 | 153584581 | A | AAGGAAGG others(9): Show |
downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 | 1 | 267 | 0.0038 | 16 | c.*42 others(27): Show |
ATP2B3 | ENSG00000067842.19 | transcript | ENST00000263519.5 | protein_coding | 1653 | chrX | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203624452 | A | AGGAGGGA others(9): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(177): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0016a0001c0001t0001g0055a0001c0001t0001g0057others(177): Show | 180 | 318 | 0.5660 | 16 | c.-32 others(27): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2379 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203633713 | G | GATAAATA others(9): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01255.hp2 HG02074.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0244a0001c0001t0002g0288a0001c0001t0004g0305 | 3 | 318 | 0.0094 | 16 | c.-46 others(35): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203686685 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG01069.hp2 others(37): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0016a0001c0001t0001g0040a0001c0001t0001g0073others(37): Show | 40 | 318 | 0.1258 | 16 | c.193 others(33): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203717626 | T | TTTTATTT others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(104): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0109a0001c0001t0001g0116a0001c0001t0001g0129others(103): Show | 107 | 318 | 0.3365 | 16 | c.240 others(35): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203719721 | T | TATAAATA others(9): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02148.hp2 HG02615.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0004a0001c0001t0012a0001c0001t0022others(6): Show | a0001c0001t0004g0230a0001c0001t0012g0311a0001c0001t0022g0136others(8): Show | 11 | 318 | 0.0346 | 16 | c.240 others(33): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203723418 | A | ATCTCTCT others(9): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0023 | a0001c0023t0060 | a0001c0023t0060g0019 | 1 | 318 | 0.0031 | 16 | c.302 others(33): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203723420 | A | ATCTCTCT others(9): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01346.hp2 HG01516.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0167a0001c0001t0004g0179a0001c0001t0004g0248others(4): Show | 7 | 318 | 0.0220 | 16 | c.302 others(33): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203723457 | T | TCTCTCTC others(9): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0150 | 1 | 318 | 0.0031 | 16 | c.302 others(33): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203744827 | T | TACACACA others(9): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02257.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0024a0001c0001t0029others(1): Show | a0001c0001t0014g0315a0001c0001t0014g0316a0001c0001t0024g0113others(3): Show | 6 | 318 | 0.0189 | 16 | c.*49 others(27): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 747 | chr1 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130902284 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0375 | 1 | 382 | 0.0026 | 16 | c.6+7 others(29): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |