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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP1A3_chr19_41961582_41999230 | 41970487 | A | G | synonymous_variant | LOW | HG01884.hp2 HG02559.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0003a0001c0008a0001c0009 | a0001c0003t0003a0001c0008t0003a0001c0009t0003 | a0001c0003t0003g0153a0001c0003t0003g0170a0001c0003t0003g0196others(3): Show | 6 | 282 | 0.0213 | 0 | c.231 others(4): Show |
p.Asn others(6): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 17/23 | 2473/3551 | 2319/3042 | 773/1013 | chr19 | TogoVar | ||
ATP1A3_chr19_41961582_41999230 | 41978709 | G | A | synonymous_variant | LOW | HG03669.hp2 NA20905.hp1 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0002 | a0001c0005t0001g0108a0001c0005t0002g0182 | 2 | 282 | 0.0071 | 0 | c.152 others(4): Show |
p.Ser others(6): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 12/23 | 1681/3551 | 1527/3042 | 509/1013 | chr19 | TogoVar | ||
ATP1A3_chr19_41961582_41999230 | 41981616 | C | T | synonymous_variant | LOW | HG01175.hp2 HG03491.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0259a0001c0004t0002g0260 | 2 | 282 | 0.0071 | 0 | c.132 others(4): Show |
p.Ala others(6): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 11/23 | 1477/3551 | 1323/3042 | 441/1013 | chr19 | TogoVar | ||
ATP1A3_chr19_41961582_41999230 | 41984957 | G | T | synonymous_variant | LOW | HG03942.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0025 | 1 | 282 | 0.0036 | 0 | c.954 others(3): Show |
p.Ile others(6): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 8/23 | 1108/3551 | 954/3042 | 318/1013 | chr19 | TogoVar | ||
ATP1A3_chr19_41961582_41999230 | 41985125 | G | A | synonymous_variant | LOW | NA18942.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0026 | 1 | 282 | 0.0036 | 0 | c.786 others(3): Show |
p.Thr others(6): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 8/23 | 940/3551 | 786/3042 | 262/1013 | chr19 | TogoVar | ||
ATP1A3_chr19_41961582_41999230 | 41985364 | A | C | synonymous_variant | LOW | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(232): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(218): Show | 235 | 282 | 0.8333 | 0 | c.666 others(3): Show |
p.Thr others(6): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 7/23 | 820/3551 | 666/3042 | 222/1013 | chr19 | TogoVar | ||
ATP1A3_chr19_41961582_41999230 | 41985873 | G | A | synonymous_variant | LOW | HG02922.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0116 | 1 | 282 | 0.0036 | 0 | c.597 others(3): Show |
p.His others(6): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 6/23 | 751/3551 | 597/3042 | 199/1013 | chr19 | TogoVar | ||
ATP1A3_chr19_41961582_41999230 | 41986224 | G | A | synonymous_variant | LOW | HG04204.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0221 | 1 | 282 | 0.0036 | 0 | c.363 others(3): Show |
p.Tyr others(6): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 5/23 | 517/3551 | 363/3042 | 121/1013 | chr19 | TogoVar | ||
ATP1A3_chr19_41961582_41999230 | 41988101 | C | T | synonymous_variant | LOW | HG02818.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0154 | 1 | 282 | 0.0036 | 0 | c.192 others(3): Show |
p.Arg others(5): Show |
ATP1A3 | ENSG00000105409.19 | transcript | ENST00000648268.1 | protein_coding | 4/23 | 346/3551 | 192/3042 | 64/1013 | chr19 | TogoVar | ||
ATP1A4_chr1_160146603_160191980 | 160152046 | G | A | synonymous_variant | LOW | HG01891.hp2 HG02258.hp2 HG02280.hp2 others(15): Show |
a0002a0009a0022 | a0002c0008a0002c0022a0009c0032others(2): Show | a0002c0008t0001a0002c0022t0001a0009c0032t0001others(2): Show | a0002c0008t0001g0008a0002c0008t0001g0009a0002c0008t0001g0214others(13): Show | 18 | 418 | 0.0431 | 0 | c.6G> others(1): Show |
p.Gly others(4): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 1/22 | 444/3809 | 6/3090 | 2/1029 | chr1 | TogoVar | ||
ATP1A4_chr1_160146603_160191980 | 160152095 | C | A | synonymous_variant | LOW | HG03209.hp1 | a0001 | a0001c0034 | a0001c0034t0008 | a0001c0034t0008g0099 | 1 | 418 | 0.0024 | 0 | c.55C others(2): Show |
p.Arg others(5): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 1/22 | 493/3809 | 55/3090 | 19/1029 | chr1 | TogoVar | ||
ATP1A4_chr1_160146603_160191980 | 160152109 | A | G | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(21): Show |
a0001a0003a0004others(1): Show | a0001c0011a0001c0020a0001c0063others(5): Show | a0001c0011t0001a0001c0020t0001a0001c0063t0001others(5): Show | a0001c0011t0001g0015a0001c0011t0001g0286a0001c0011t0001g0396others(20): Show | 24 | 418 | 0.0574 | 0 | c.69A others(2): Show |
p.Lys others(5): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 1/22 | 507/3809 | 69/3090 | 23/1029 | chr1 | TogoVar | ||
ATP1A4_chr1_160146603_160191980 | 160152181 | G | A | synonymous_variant | LOW | NA18956.hp1 NA18971.hp2 |
a0001 | a0001c0035a0001c0036 | a0001c0035t0001a0001c0036t0001 | a0001c0035t0001g0304a0001c0036t0001g0303 | 2 | 418 | 0.0048 | 0 | c.141 others(3): Show |
p.Val others(5): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 1/22 | 579/3809 | 141/3090 | 47/1029 | chr1 | TogoVar | ||
ATP1A4_chr1_160146603_160191980 | 160155110 | C | T | synonymous_variant | LOW | HG02055.hp1 | a0001 | a0001c0051 | a0001c0051t0001 | a0001c0051t0001g0336 | 1 | 418 | 0.0024 | 0 | c.273 others(3): Show |
p.Pro others(5): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 3/22 | 711/3809 | 273/3090 | 91/1029 | chr1 | TogoVar | ||
ATP1A4_chr1_160146603_160191980 | 160155152 | C | T | synonymous_variant | LOW | HG02622.hp2 HG02965.hp2 NA19030.hp2 |
a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0400a0001c0019t0001g0401a0001c0019t0001g0402 | 3 | 418 | 0.0072 | 0 | c.315 others(3): Show |
p.Phe others(6): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 3/22 | 753/3809 | 315/3090 | 105/1029 | chr1 | TogoVar | ||
ATP1A4_chr1_160146603_160191980 | 160159483 | G | A | synonymous_variant | LOW | HG02647.hp2 HG02896.hp1 HG02897.hp1 others(2): Show |
a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0001a0002c0013t0002g0177a0002c0013t0002g0178 | 5 | 418 | 0.0120 | 0 | c.735 others(3): Show |
p.Leu others(6): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 6/22 | 1173/3809 | 735/3090 | 245/1029 | chr1 | TogoVar | ||
ATP1A4_chr1_160146603_160191980 | 160164415 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(232): Show |
a0001a0002a0003others(9): Show | a0001c0003a0001c0004a0001c0011others(21): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0005others(28): Show | a0001c0003t0001g0020a0001c0003t0001g0043a0001c0003t0001g0044others(223): Show | 235 | 418 | 0.5622 | 0 | c.103 others(4): Show |
p.Ala others(6): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 7/22 | 1476/3809 | 1038/3090 | 346/1029 | chr1 | TogoVar | ||
ATP1A4_chr1_160146603_160191980 | 160166560 | G | A | synonymous_variant | LOW | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(185): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0011others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0035a0001c0001t0001g0054a0001c0001t0001g0056others(174): Show | 188 | 418 | 0.4498 | 0 | c.108 others(4): Show |
p.Ala others(6): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 8/22 | 1518/3809 | 1080/3090 | 360/1029 | chr1 | TogoVar | ||
ATP1A4_chr1_160146603_160191980 | 160166668 | C | T | synonymous_variant | LOW | HG03704.hp1 | a0002 | a0002c0053 | a0002c0053t0002 | a0002c0053t0002g0127 | 1 | 418 | 0.0024 | 0 | c.118 others(4): Show |
p.Val others(6): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 8/22 | 1626/3809 | 1188/3090 | 396/1029 | chr1 | TogoVar | ||
ATP1A4_chr1_160146603_160191980 | 160171323 | T | C | synonymous_variant | LOW | HG02280.hp1 HG03098.hp2 |
a0008 | a0008c0025 | a0008c0025t0001 | a0008c0025t0001g0101a0008c0025t0001g0102 | 2 | 418 | 0.0048 | 0 | c.156 others(4): Show |
p.Leu others(6): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 11/22 | 2002/3809 | 1564/3090 | 522/1029 | chr1 | TogoVar | ||
ATP1A4_chr1_160146603_160191980 | 160171406 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(412): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0003a0001c0004others(57): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(72): Show | a0001c0001t0001g0035a0001c0001t0001g0054a0001c0001t0001g0056others(396): Show | 415 | 418 | 0.9928 | 0 | c.164 others(4): Show |
p.Tyr others(6): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 11/22 | 2085/3809 | 1647/3090 | 549/1029 | chr1 | TogoVar | ||
ATP1A4_chr1_160146603_160191980 | 160171742 | C | A | synonymous_variant | LOW | HG02145.hp1 HG02451.hp2 HG02886.hp1 others(3): Show |
a0001a0006a0008 | a0001c0045a0006c0015a0008c0046 | a0001c0045t0001a0006c0015t0001a0008c0046t0009 | a0001c0045t0001g0058a0006c0015t0001g0059a0006c0015t0001g0060others(3): Show | 6 | 418 | 0.0144 | 0 | c.183 others(4): Show |
p.Arg others(6): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 12/22 | 2277/3809 | 1839/3090 | 613/1029 | chr1 | TogoVar | ||
ATP1A4_chr1_160146603_160191980 | 160174734 | G | A | synonymous_variant | LOW | HG02683.hp2 HG03704.hp1 HG03710.hp1 others(1): Show |
a0001a0002 | a0001c0042a0002c0030a0002c0053 | a0001c0042t0001a0002c0030t0002a0002c0053t0002 | a0001c0042t0001g0106a0002c0030t0002g0118a0002c0030t0002g0195others(1): Show | 4 | 418 | 0.0096 | 0 | c.229 others(4): Show |
p.Thr others(6): Show |
ATP1A4 | ENSG00000132681.17 | transcript | ENST00000368081.9 | protein_coding | 15/22 | 2736/3809 | 2298/3090 | 766/1029 | chr1 | TogoVar | ||
ATP1B1_chr1_169101690_169137719 | 169106898 | G | A | synonymous_variant | LOW | HG02970.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0270 | 1 | 412 | 0.0024 | 0 | c.69G others(2): Show |
p.Glu others(5): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 1/6 | 209/2216 | 69/912 | 23/303 | chr1 | TogoVar | ||
ATP1B1_chr1_169101690_169137719 | 169111494 | G | A | synonymous_variant | LOW | HG01081.hp1 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0059a0001c0002t0005g0060 | 2 | 412 | 0.0049 | 0 | c.222 others(3): Show |
p.Pro others(5): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 2/6 | 362/2216 | 222/912 | 74/303 | chr1 | TogoVar | ||
ATP1B1_chr1_169101690_169137719 | 169124978 | G | A | synonymous_variant | LOW | HG02735.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0181 | 1 | 412 | 0.0024 | 0 | c.321 others(3): Show |
p.Arg others(6): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 3/6 | 461/2216 | 321/912 | 107/303 | chr1 | TogoVar | ||
ATP1B2_chr17_7645926_7662770 | 7654101 | A | G | synonymous_variant | LOW | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(305): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(55): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(76): Show | 308 | 440 | 0.7000 | 0 | c.396 others(3): Show |
p.Gly others(6): Show |
ATP1B2 | ENSG00000129244.9 | transcript | ENST00000250111.9 | protein_coding | 4/7 | 989/3341 | 396/873 | 132/290 | chr17 | TogoVar | ||
ATP1B2_chr17_7645926_7662770 | 7655577 | C | T | synonymous_variant | LOW | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0004 | 2 | 440 | 0.0046 | 0 | c.660 others(3): Show |
p.Asn others(6): Show |
ATP1B2 | ENSG00000129244.9 | transcript | ENST00000250111.9 | protein_coding | 6/7 | 1253/3341 | 660/873 | 220/290 | chr17 | TogoVar | ||
ATP1B2_chr17_7645926_7662770 | 7655862 | C | T | synonymous_variant | LOW | HG01243.hp2 HG02717.hp1 |
a0001 | a0001c0005 | a0001c0005t0033 | a0001c0005t0033g0002 | 2 | 440 | 0.0046 | 0 | c.840 others(3): Show |
p.Arg others(6): Show |
ATP1B2 | ENSG00000129244.9 | transcript | ENST00000250111.9 | protein_coding | 7/7 | 1433/3341 | 840/873 | 280/290 | chr17 | TogoVar | ||
ATP1B3_chr3_141871643_141931549 | 141876897 | C | T | synonymous_variant | LOW | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0160a0001c0003t0002g0161 | 2 | 408 | 0.0049 | 0 | c.96C others(2): Show |
p.Thr others(5): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/7 | 255/1847 | 96/840 | 32/279 | chr3 | TogoVar | ||
ATP1B3_chr3_141871643_141931549 | 141907195 | C | T | synonymous_variant | LOW | HG03516.hp1 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0305a0001c0002t0001g0306 | 2 | 408 | 0.0049 | 0 | c.267 others(3): Show |
p.Thr others(5): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 3/7 | 426/1847 | 267/840 | 89/279 | chr3 | TogoVar | ||
ATP1B3_chr3_141871643_141931549 | 141913770 | T | C | synonymous_variant | LOW | NA19043.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0304 | 1 | 408 | 0.0025 | 0 | c.465 others(3): Show |
p.Ser others(6): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 4/7 | 624/1847 | 465/840 | 155/279 | chr3 | TogoVar | ||
ATP1B4_chrX_120357089_120388237 | 120375499 | C | T | synonymous_variant | LOW | HG02056.hp1 | a0001 | a0001c0007 | a0001c0007t0023 | a0001c0007t0023g0023 | 1 | 353 | 0.0028 | 0 | c.690 others(3): Show |
p.Cys others(6): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 5/8 | 770/4757 | 690/1074 | 230/357 | chrX | TogoVar | ||
ATP23_chr12_57936567_57964148 | 57951823 | T | C | synonymous_variant | LOW | HG00544.hp1 HG01069.hp2 HG01123.hp1 others(82): Show |
a0001a0005 | a0001c0003a0005c0008 | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(8): Show | a0001c0003t0001g0003a0001c0003t0001g0008a0001c0003t0001g0009others(30): Show | 85 | 393 | 0.2163 | 0 | c.381 others(3): Show |
p.Leu others(6): Show |
ATP23 | ENSG00000166896.9 | transcript | ENST00000300145.4 | protein_coding | 4/6 | 516/3134 | 381/741 | 127/246 | chr12 | TogoVar | ||
ATP23_chr12_57936567_57964148 | 57951844 | T | C | synonymous_variant | LOW | HG01243.hp2 HG02145.hp2 HG02622.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0002a0001c0005t0004a0001c0005t0005 | a0001c0005t0002g0051a0001c0005t0004g0019a0001c0005t0005g0019others(1): Show | 4 | 393 | 0.0102 | 0 | c.402 others(3): Show |
p.Cys others(6): Show |
ATP23 | ENSG00000166896.9 | transcript | ENST00000300145.4 | protein_coding | 4/6 | 537/3134 | 402/741 | 134/246 | chr12 | TogoVar | ||
ATP23_chr12_57936567_57964148 | 57956848 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(245): Show |
a0001a0002a0005 | a0001c0003a0001c0004a0002c0001others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(20): Show | a0001c0003t0001g0003a0001c0003t0001g0008a0001c0003t0001g0009others(98): Show | 248 | 393 | 0.6310 | 0 | c.699 others(3): Show |
p.His others(6): Show |
ATP23 | ENSG00000166896.9 | transcript | ENST00000300145.4 | protein_coding | 6/6 | 834/3134 | 699/741 | 233/246 | chr12 | TogoVar | ||
ATP2A1_chr16_28873488_28909466 | 28879523 | G | A | synonymous_variant | LOW | NA20129.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0063 | 1 | 380 | 0.0026 | 0 | c.159 others(3): Show |
p.Val others(5): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 3/23 | 343/3493 | 159/2985 | 53/994 | chr16 | TogoVar | ||
ATP2A1_chr16_28873488_28909466 | 28887472 | T | C | synonymous_variant | LOW | HG00099.hp2 HG00642.hp2 HG00741.hp2 others(114): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0006a0002c0004others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0002t0001g0003a0001c0002t0001g0006a0001c0002t0001g0012others(86): Show | 117 | 380 | 0.3079 | 0 | c.678 others(3): Show |
p.Thr others(6): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 8/23 | 862/3493 | 678/2985 | 226/994 | chr16 | TogoVar | ||
ATP2A1_chr16_28873488_28909466 | 28894511 | G | A | synonymous_variant | LOW | HG04184.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0100 | 1 | 380 | 0.0026 | 0 | c.119 others(4): Show |
p.Lys others(6): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 11/23 | 1375/3493 | 1191/2985 | 397/994 | chr16 | TogoVar | ||
ATP2A1_chr16_28873488_28909466 | 28898301 | G | A | synonymous_variant | LOW | HG00558.hp1 HG00609.hp2 HG00673.hp1 others(17): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0031a0001c0003t0001g0134a0001c0003t0001g0284others(16): Show | 20 | 380 | 0.0526 | 0 | c.161 others(4): Show |
p.Thr others(6): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 14/23 | 1798/3493 | 1614/2985 | 538/994 | chr16 | TogoVar | ||
ATP2A1_chr16_28873488_28909466 | 28900790 | C | T | synonymous_variant | LOW | HG03486.hp2 NA19240.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0028 | 2 | 380 | 0.0053 | 0 | c.197 others(4): Show |
p.Phe others(6): Show |
ATP2A1 | ENSG00000196296.14 | transcript | ENST00000395503.9 | protein_coding | 15/23 | 2158/3493 | 1974/2985 | 658/994 | chr16 | TogoVar | ||
ATP2A2_chr12_110276247_110356093 | 110281870 | A | G | synonymous_variant | LOW | HG00738.hp1 HG01069.hp2 |
a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0220a0001c0005t0009g0221 | 2 | 228 | 0.0088 | 0 | c.81A others(2): Show |
p.Glu others(5): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 1/20 | 624/8295 | 81/3129 | 27/1042 | chr12 | TogoVar | ||
ATP2A2_chr12_110276247_110356093 | 110296601 | A | G | splice_region_variant others(1): Show |
LOW | HG00738.hp1 HG01069.hp2 |
a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0220a0001c0005t0009g0221 | 2 | 228 | 0.0088 | 0 | c.327 others(3): Show |
p.Glu others(6): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/20 | 870/8295 | 327/3129 | 109/1042 | chr12 | TogoVar | ||
ATP2A2_chr12_110276247_110356093 | 110326424 | C | T | synonymous_variant | LOW | HG04228.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0104 | 1 | 228 | 0.0044 | 0 | c.579 others(3): Show |
p.Pro others(6): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 7/20 | 1122/8295 | 579/3129 | 193/1042 | chr12 | TogoVar | ||
ATP2A2_chr12_110276247_110356093 | 110342302 | G | A | synonymous_variant | LOW | HG01261.hp2 HG01515.hp2 HG01516.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0114a0001c0002t0001g0117a0001c0002t0001g0118others(1): Show | 4 | 228 | 0.0175 | 0 | c.217 others(4): Show |
p.Ala others(6): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 15/20 | 2715/8295 | 2172/3129 | 724/1042 | chr12 | TogoVar | ||
ATP2A2_chr12_110276247_110356093 | 110342440 | A | G | synonymous_variant | LOW | HG02145.hp2 | a0001 | a0001c0008 | a0001c0008t0030 | a0001c0008t0030g0184 | 1 | 228 | 0.0044 | 0 | c.231 others(4): Show |
p.Glu others(6): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 15/20 | 2853/8295 | 2310/3129 | 770/1042 | chr12 | TogoVar | ||
ATP2A2_chr12_110276247_110356093 | 110345269 | A | G | synonymous_variant | LOW | HG01891.hp2 HG02486.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0004a0001c0003t0020 | a0001c0003t0002g0019a0001c0003t0002g0020a0001c0003t0004g0217others(1): Show | 4 | 228 | 0.0175 | 0 | c.262 others(4): Show |
p.Lys others(6): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 18/20 | 3171/8295 | 2628/3129 | 876/1042 | chr12 | TogoVar | ||
ATP2A2_chr12_110276247_110356093 | 110346007 | C | T | synonymous_variant | LOW | HG02717.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0024 | 1 | 228 | 0.0044 | 0 | c.274 others(4): Show |
p.Ser others(6): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 19/20 | 3291/8295 | 2748/3129 | 916/1042 | chr12 | TogoVar | ||
ATP2A2_chr12_110276247_110356093 | 110346266 | C | G | synonymous_variant | LOW | NA18995.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0163 | 1 | 228 | 0.0044 | 0 | c.292 others(4): Show |
p.Pro others(6): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 20/20 | 3468/8295 | 2925/3129 | 975/1042 | chr12 | TogoVar | ||
ATP2A3_chr17_3918873_3969437 | 3929439 | C | T | synonymous_variant | LOW | HG01109.hp1 HG01243.hp2 HG01891.hp2 others(19): Show |
a0002 | a0002c0006a0002c0015a0002c0016others(6): Show | a0002c0006t0001a0002c0006t0010a0002c0006t0026others(9): Show | a0002c0006t0001g0004a0002c0006t0001g0047a0002c0006t0001g0050others(17): Show | 22 | 332 | 0.0663 | 0 | c.275 others(4): Show |
p.Ser others(6): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 19/21 | 2897/4695 | 2751/3000 | 917/999 | chr17 | TogoVar |