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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATM_chr11_108218067_108374102 | 108273331 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0086 | 1 | 94 | 0.0106 | 15 | c.328 others(32): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 22/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATN1_chr12_6922959_6947321 | 6936728 | A | ACAGCAGC others(8): Show |
disruptive_inframe_insertion | MODERATE | HG01167.hp2 HG03669.hp2 NA18964.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0057 a0001c0001t0001g0061 others(1): Show |
5 | 126 | 0.0397 | 15 | c.149 others(24): Show |
p.Gln others(13): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 5/10 | 2097/4702 | 1509/3573 | 503/1190 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ATOSA_chr15_52576321_52684388 | 52597165 | G | GTTCTGTT others(8): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0094 | 1 | 9 | 0.1111 | 15 | c.264 others(34): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 9/12 | chr15 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52640571 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0194 | 1 | 39 | 0.0256 | 15 | c.17- others(32): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52672172 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0248 | 1 | 137 | 0.0073 | 15 | c.16+ others(30): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25779845 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0025 | a0025c0073 | a0025c0073t0002 | a0025c0073t0002g0281 | 1 | 29 | 0.0345 | 15 | c.654 others(32): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25786617 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0044 | a0044c0051 | a0044c0051t0001 | a0044c0051t0001g0024 | 1 | 32 | 0.0313 | 15 | c.450 others(32): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160653431 | T | TATTACAT others(8): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01255.hp2 HG02698.hp1 others(5): Show |
a0001a0013a0024 | a0001c0001a0001c0002a0013c0027others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0118 a0001c0001t0003g0045 a0001c0001t0003g0046 others(5): Show |
8 | 204 | 0.0392 | 15 | c.676 others(32): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160653497 | T | TATTACAT others(8): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0013 | a0002c0013t0042 | a0002c0013t0042g0179 | 1 | 164 | 0.0061 | 15 | c.676 others(32): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160654704 | G | GTCATCGT others(8): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0007 | a0007c0015 | a0007c0015t0004 | a0007c0015t0004g0176 | 1 | 214 | 0.0047 | 15 | c.676 others(32): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160669918 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01069.hp1 HG01071.hp2 others(18): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0065 a0001c0001t0001g0170 a0001c0001t0002g0069 others(18): Show |
21 | 62 | 0.3387 | 15 | c.675 others(30): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160704914 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02572.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0028others(2): Show | a0001c0001t0008a0001c0008t0037a0001c0028t0008others(3): Show | a0001c0001t0008g0172 a0001c0008t0037g0023 a0001c0028t0008g0030 others(3): Show |
6 | 38 | 0.1579 | 15 | c.-20 others(36): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160812060 | G | GAGAGAGA others(8): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01168.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0002c0003t0005 | a0001c0001t0009g0080 a0002c0003t0005g0089 |
2 | 233 | 0.0086 | 15 | c.-57 others(36): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | |||||||
ATP10D_chr4_47480275_47598486 | 47482454 | C | CTCTTCTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG03041.hp2 HG03540.hp1 others(1): Show |
a0001a0003a0011others(1): Show | a0001c0003a0003c0004a0011c0020others(1): Show | a0001c0003t0001a0003c0004t0005a0011c0020t0009others(1): Show | a0001c0003t0001g0073 a0003c0004t0005g0072 a0011c0020t0009g0115 others(1): Show |
4 | 219 | 0.0183 | 15 | c.-31 others(26): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 2820 | chr4 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112718795 | T | TGAGTAGC others(8): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0013 | 1 | 252 | 0.0040 | 15 | c.39+ others(32): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182839603 | T | TTTTTATT others(8): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 322 | 0.0031 | 15 | c.656 others(32): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
ATP11B_chr3_182788504_182926629 | 182839604 | A | ATTTATTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(128): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(124): Show |
131 | 275 | 0.4764 | 15 | c.656 others(32): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP11B_chr3_182788504_182926629 | 182926293 | G | GCATGGCT others(8): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01255.hp2 HG01257.hp1 others(23): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0005a0001c0002t0004a0001c0002t0007others(4): Show | a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0005g0253 others(23): Show |
26 | 322 | 0.0807 | 15 | c.*81 others(26): Show |
ATP11B | ENSG00000058063.16 | transcript | ENST00000323116.10 | protein_coding | 4665 | chr3 | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139803685 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0207 | 1 | 34 | 0.0294 | 15 | c.555 others(30): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 6/29 | chrX | TogoVar | |||||||
ATP11C_chrX_139721348_139938053 | 139866343 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01993.hp2 HG02071.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0015a0001c0003t0002others(2): Show | a0001c0001t0002g0181 a0001c0001t0002g0189 a0001c0001t0002g0195 others(8): Show |
11 | 99 | 0.1111 | 15 | c.28- others(32): Show |
ATP11C | ENSG00000101974.15 | transcript | ENST00000682941.1 | protein_coding | 1/29 | chrX | TogoVar | |||||||
ATP13A2_chr1_16980958_17016928 | 16982107 | G | GGGTTTTG others(8): Show |
downstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 364 | 0.0027 | 15 | c.*41 others(26): Show |
ATP13A2 | ENSG00000159363.19 | transcript | ENST00000326735.13 | protein_coding | 3850 | chr1 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194409693 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01261.hp1 HG02630.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0038 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0218 others(9): Show |
12 | 130 | 0.0923 | 15 | c.357 others(34): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194410331 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 275 | 0.0036 | 15 | c.357 others(34): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 33/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194415661 | C | CTGTTTTT others(8): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0267 | 1 | 153 | 0.0065 | 15 | c.340 others(34): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 31/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194421944 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02615.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 others(2): Show |
5 | 139 | 0.0360 | 15 | c.331 others(34): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194428231 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 155 | 0.0065 | 15 | c.294 others(32): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 28/33 | chr3 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194468386 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0016 | 1 | 207 | 0.0048 | 15 | c.-46 others(32): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 2/33 | chr3 | TogoVar | |||||||
ATP13A4_chr3_193393967_193559895 | 193541248 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02155.hp1 NA19009.hp2 NA19077.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0022 a0002c0003t0001g0131 a0002c0003t0001g0132 |
3 | 221 | 0.0136 | 15 | c.60+ others(32): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193284007 | G | GATTATTA others(8): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02572.hp1 HG03098.hp1 others(4): Show |
a0001a0025 | a0001c0007a0001c0012a0025c0045 | a0001c0007t0001a0001c0012t0001a0025c0045t0001 | a0001c0007t0001g0154 a0001c0007t0001g0176 a0001c0007t0001g0177 others(4): Show |
7 | 51 | 0.1373 | 15 | c.322 others(32): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 27/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193354940 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG01099.hp2 others(42): Show |
a0001a0003a0009others(4): Show | a0001c0006a0001c0013a0003c0002others(5): Show | a0001c0006t0001a0001c0013t0001a0003c0002t0001others(6): Show | a0001c0006t0001g0032 a0001c0013t0001g0063 a0001c0013t0001g0086 others(40): Show |
45 | 158 | 0.2848 | 15 | c.537 others(30): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 5/29 | chr3 | TogoVar | |||||||
ATP13A5_chr3_193269789_193383753 | 193354940 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02922.hp1 |
a0001a0003 | a0001c0012a0003c0002 | a0001c0012t0001a0003c0002t0001 | a0001c0012t0001g0021 a0001c0012t0001g0023 a0003c0002t0001g0022 |
3 | 116 | 0.0259 | 15 | c.537 others(30): Show |
ATP13A5 | ENSG00000187527.12 | transcript | ENST00000342358.9 | protein_coding | 5/29 | chr3 | TogoVar | |||||||
ATP1A2_chr1_160110759_160148591 | 160119256 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 2 | 0.5000 | 15 | c.13- others(30): Show |
ATP1A2 | ENSG00000018625.15 | transcript | ENST00000361216.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP1A4_chr1_160146603_160191980 | 160186086 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00733.hp1 others(65): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0257 a0001c0001t0001g0311 a0001c0001t0001g0340 others(64): Show |
68 | 163 | 0.4172 | 15 | c.297 others(32): 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(8): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0303 | 1 | 80 | 0.0125 | 15 | c.*34 others(26): Show |
ATP1B1 | ENSG00000143153.14 | transcript | ENST00000367815.9 | protein_coding | 2296 | chr1 | TogoVar | |||||||
ATP1B2_chr17_7645926_7662770 | 7646539 | T | TTTTTGTA others(8): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 438 | 0.0023 | 15 | c.-49 others(26): Show |
ATP1B2 | ENSG00000129244.9 | transcript | ENST00000250111.9 | protein_coding | 4386 | chr17 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 106 | 0.0094 | 15 | c.-23 others(26): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AAAAAAAT others(8): Show |
upstream_gene_variant | MODIFIER | HG01943.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0039 a0001c0001t0005g0016 |
2 | 107 | 0.0187 | 15 | c.-23 others(26): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AAAAATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 | 1 | 106 | 0.0094 | 15 | c.-23 others(26): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | AAATATAT others(8): Show |
upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 106 | 0.0094 | 15 | c.-23 others(26): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141874438 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 106 | 0.0094 | 15 | c.-23 others(26): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 2204 | chr3 | TogoVar | |||||||
ATP1B3_chr3_141871643_141931549 | 141879777 | T | TCAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0385 | 1 | 323 | 0.0031 | 15 | c.109 others(32): Show |
ATP1B3 | ENSG00000069849.11 | transcript | ENST00000286371.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP1B4_chrX_120357089_120388237 | 120374560 | A | AATATAAT others(8): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0028 | 2 | 341 | 0.0059 | 15 | c.563 others(30): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATP2A2_chr12_110276247_110356093 | 110309140 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0189 | 1 | 45 | 0.0222 | 15 | c.463 others(34): Show |
ATP2A2 | ENSG00000174437.18 | transcript | ENST00000539276.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3965849 | T | TTTATTAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG01106.hp2 others(29): Show |
a0001a0002a0006 | a0001c0003a0001c0004a0001c0005others(6): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(15): Show | a0001c0003t0001g0074 a0001c0003t0001g0079 a0001c0003t0002g0069 others(29): Show |
32 | 240 | 0.1333 | 15 | c.-15 others(26): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1413 | chr17 | TogoVar | |||||||
ATP2A3_chr17_3918873_3969437 | 3965855 | A | ATTATTAT others(8): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0061 | 1 | 330 | 0.0030 | 15 | c.-15 others(26): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1419 | chr17 | TogoVar | |||||||
ATP2B1_chr12_89583049_89713838 | 89583790 | C | CGGGGGGG others(8): Show |
downstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 95 | 0.0105 | 15 | c.*71 others(26): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 4258 | chr12 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203624451 | A | AAGGAGGG others(8): Show |
upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0280 | 1 | 316 | 0.0032 | 15 | c.-32 others(26): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2380 | chr1 | TogoVar | |||||||
ATP2B4_chr1_203621832_203749081 | 203686685 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(39): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0023others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0006 a0001c0001t0001g0042 a0001c0001t0001g0057 others(39): Show |
42 | 74 | 0.5676 | 15 | c.193 others(32): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203719225 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0136 | 1 | 277 | 0.0036 | 15 | c.240 others(34): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203723457 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 224 | 0.0045 | 15 | c.302 others(32): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |