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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP2A3_chr17_3918873_3969437 | 3958869 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0033 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0297a0001c0001t0001g0298a0001c0001t0001g0301others(9): Show | 13 | 332 | 0.0392 | 12 | c.119 others(29): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1/20 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3965849 | T | TTTATTAT others(5): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG02040.hp1 HG02809.hp1 others(6): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0023others(3): Show | a0001c0003t0003a0001c0003t0005a0001c0004t0001others(5): Show | a0001c0003t0003g0078a0001c0003t0005g0072a0001c0003t0005g0114others(6): Show | 9 | 332 | 0.0271 | 12 | c.-15 others(23): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1413 | chr17 | TogoVar | ||||||
ATP2A3_chr17_3918873_3969437 | 3966363 | G | GTTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 332 | 0.0030 | 12 | c.-20 others(23): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 1927 | chr17 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89583790 | C | CGGGGGGG others(5): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 HG01978.hp1 NA19006.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077a0001c0001t0001g0090a0001c0001t0001g0266 | 3 | 332 | 0.0090 | 12 | c.*71 others(23): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 4258 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89630772 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(279): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0001g0036others(278): Show | 282 | 332 | 0.8494 | 12 | c.788 others(27): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 5/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89643065 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0110a0001c0002t0001g0114a0001c0002t0001g0115others(2): Show | 5 | 332 | 0.0151 | 12 | c.209 others(27): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 2/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89658598 | G | GGAGAGAG others(5): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01106.hp2 HG01168.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(2): Show | a0001c0001t0001g0099a0001c0001t0001g0108a0001c0001t0001g0127others(8): Show | 11 | 332 | 0.0331 | 12 | c.-22 others(31): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677954 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0110 | 1 | 332 | 0.0030 | 12 | c.-22 others(33): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677956 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG01081.hp1 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0066others(16): Show | 19 | 332 | 0.0572 | 12 | c.-22 others(33): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B1_chr12_89583049_89713838 | 89677971 | T | TATATACA others(5): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0142 | 1 | 332 | 0.0030 | 12 | c.-22 others(33): Show |
ATP2B1 | ENSG00000070961.17 | transcript | ENST00000428670.8 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10471364 | C | CTGAGTGT others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01074.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0003others(7): Show | a0001c0001t0003g0044a0001c0002t0001g0086a0001c0002t0003g0040others(14): Show | 17 | 290 | 0.0586 | 12 | c.-31 others(33): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10486324 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0048a0001c0002t0004others(7): Show | a0001c0001t0001g0079a0001c0001t0001g0090a0001c0001t0001g0130others(16): Show | 19 | 290 | 0.0655 | 12 | c.-32 others(33): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10488232 | C | CCCATCCA others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01168.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(6): Show | a0001c0001t0001g0021a0001c0001t0001g0158a0001c0001t0009g0008others(7): Show | 10 | 290 | 0.0345 | 12 | c.-32 others(33): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10488234 | T | TATCCATC others(5): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03041.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0004a0001c0012 | a0001c0001t0028a0001c0004t0051a0001c0012t0022 | a0001c0001t0028g0160a0001c0004t0051g0015a0001c0012t0022g0199 | 3 | 290 | 0.0103 | 12 | c.-32 others(33): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10488463 | A | ATTCATTC others(5): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02080.hp2 HG02258.hp1 others(3): Show |
a0001 | a0001c0003a0001c0005a0001c0006others(2): Show | a0001c0003t0003a0001c0005t0001a0001c0006t0001others(2): Show | a0001c0003t0003g0052a0001c0005t0001g0064a0001c0005t0001g0220others(3): Show | 6 | 290 | 0.0207 | 12 | c.-32 others(33): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10488463 | A | ATTCCTTC others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00735.hp1 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0017a0001c0002t0002others(12): Show | a0001c0001t0001g0007a0001c0001t0001g0089a0001c0001t0017g0278others(15): Show | 18 | 290 | 0.0621 | 12 | c.-32 others(33): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10488511 | C | CTTCCTTC others(5): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02155.hp2 HG02738.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(4): Show | a0001c0001t0001g0115a0001c0001t0001g0262a0001c0001t0003g0135others(5): Show | 8 | 290 | 0.0276 | 12 | c.-32 others(33): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10488511 | C | CTTCGTTC others(5): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0243 | 1 | 290 | 0.0035 | 12 | c.-32 others(33): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203624249 | G | GGAAAGAA others(5): Show |
upstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0225 | 1 | 318 | 0.0031 | 12 | c.-34 others(23): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2582 | chr1 | TogoVar | ||||||
ATP2B4_chr1_203621832_203749081 | 203633713 | G | GATAAATA others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(42): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0055a0001c0001t0001g0058a0001c0001t0001g0146others(42): Show | 45 | 318 | 0.1415 | 12 | c.-46 others(31): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203633739 | T | TAAATAAA others(5): Show |
intron_variant | MODIFIER | HG03704.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0020 | a0001c0001t0004g0241a0001c0001t0020g0159 | 2 | 318 | 0.0063 | 12 | c.-46 others(31): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203680621 | A | AAAAGAAA others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(238): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0016others(237): Show | 241 | 318 | 0.7579 | 12 | c.-46 others(31): 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(5): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0022a0001c0001t0026others(1): Show | a0001c0001t0015g0034a0001c0001t0022g0136a0001c0001t0026g0257others(1): Show | 4 | 318 | 0.0126 | 12 | c.193 others(29): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203703164 | C | CGAGAGAG others(5): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0148 | 1 | 318 | 0.0031 | 12 | c.938 others(27): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203717626 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG01168.hp2 others(36): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0092a0001c0001t0002g0162a0001c0001t0002g0164others(36): Show | 39 | 318 | 0.1226 | 12 | c.240 others(31): 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(5): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006a0001c0012 | a0001c0001t0002a0001c0001t0006a0001c0001t0022others(4): Show | a0001c0001t0002g0309a0001c0001t0006g0025a0001c0001t0022g0150others(4): Show | 7 | 318 | 0.0220 | 12 | c.240 others(29): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP2B4_chr1_203621832_203749081 | 203723420 | A | ATCTCTCT others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01069.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0012 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0300a0001c0001t0004g0185a0001c0001t0004g0207others(14): Show | 17 | 318 | 0.0535 | 12 | c.302 others(29): 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(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG01074.hp1 others(12): Show |
a0001a0004 | a0001c0001a0004c0014 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0002g0175a0001c0001t0002g0192a0001c0001t0002g0218others(12): Show | 15 | 318 | 0.0472 | 12 | c.302 others(29): 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(5): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0012 | a0001c0001t0004g0173a0001c0001t0004g0203a0001c0001t0005g0097others(1): Show | 4 | 318 | 0.0126 | 12 | c.*49 others(23): Show |
ATP2B4 | ENSG00000058668.16 | transcript | ENST00000357681.10 | protein_coding | 747 | chr1 | TogoVar | ||||||
ATP2C1_chr3_130889084_131008150 | 130953076 | C | CGTATGTA others(5): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 382 | 0.0026 | 12 | c.532 others(27): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2C1_chr3_130889084_131008150 | 130970369 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02809.hp1 HG03195.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0210others(5): Show | 8 | 382 | 0.0209 | 12 | c.141 others(31): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 17/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84397655 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00639.hp1 others(47): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0419a0001c0001t0002g0007a0001c0001t0003g0426others(47): Show | 50 | 432 | 0.1157 | 12 | c.100 others(27): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84424576 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03471.hp1 |
a0012a0016 | a0012c0033a0016c0036 | a0012c0033t0002a0016c0036t0002 | a0012c0033t0002g0072a0016c0036t0002g0080 | 2 | 432 | 0.0046 | 12 | c.920 others(29): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP2C2_chr16_84363538_84469187 | 84446513 | A | ATAATTTG others(5): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0328 | 1 | 432 | 0.0023 | 12 | c.150 others(27): Show |
ATP2C2 | ENSG00000064270.13 | transcript | ENST00000262429.9 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ATP5F1A_chr18_46075248_46103296 | 46092180 | A | AAATAATA others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 390 | 0.0026 | 12 | c.140 others(27): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
ATP5F1A_chr18_46075248_46103296 | 46094157 | G | GACACATC others(5): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0185 | 1 | 390 | 0.0026 | 12 | c.139 others(27): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
ATP5F1A_chr18_46075248_46103296 | 46094186 | C | CACACACA others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00544.hp2 others(89): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0006 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(28): Show | a0001c0001t0002g0001a0001c0001t0002g0017a0001c0001t0002g0018others(52): Show | 92 | 390 | 0.2359 | 12 | c.139 others(27): Show |
ATP5F1A | ENSG00000152234.16 | transcript | ENST00000398752.11 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
ATP5F1B_chr12_56633175_56650984 | 56648449 | A | AAAAAAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 HG01993.hp1 HG02148.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 4 | 390 | 0.0103 | 12 | c.-24 others(23): Show |
ATP5F1B | ENSG00000110955.9 | transcript | ENST00000262030.8 | protein_coding | 2466 | chr12 | TogoVar | ||||||
ATP5F1E_chr20_59020475_59037335 | 59022000 | T | TAAACAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 404 | 0.0025 | 12 | c.*68 others(23): Show |
ATP5F1E | ENSG00000124172.10 | transcript | ENST00000243997.8 | protein_coding | 3474 | chr20 | TogoVar | ||||||
ATP5F1E_chr20_59020475_59037335 | 59022004 | T | TAAACAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 404 | 0.0025 | 12 | c.*68 others(23): Show |
ATP5F1E | ENSG00000124172.10 | transcript | ENST00000243997.8 | protein_coding | 3470 | chr20 | TogoVar | ||||||
ATP5MC1_chr17_48887787_48900871 | 48899067 | C | CAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 334 | 0.0030 | 12 | c.*32 others(23): Show |
ATP5MC1 | ENSG00000159199.14 | transcript | ENST00000393366.7 | protein_coding | 3197 | chr17 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53664344 | A | AAAATAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01123.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(27): Show | 37 | 418 | 0.0885 | 12 | c.*95 others(21): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 825 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53667956 | C | CACACATA others(5): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 418 | 0.0024 | 12 | c.311 others(29): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53667956 | C | CACATATA others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG01192.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0019a0001c0001t0001g0083others(9): Show | 20 | 418 | 0.0479 | 12 | c.311 others(29): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53667956 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 418 | 0.0024 | 12 | c.311 others(29): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53667998 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 418 | 0.0024 | 12 | c.311 others(29): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53669016 | A | AAAACAAA others(5): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 418 | 0.0024 | 12 | c.311 others(27): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53672083 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA19002.hp2 NA19068.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079a0001c0001t0001g0084a0001c0001t0001g0085 | 3 | 418 | 0.0072 | 12 | c.39+ others(25): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53673319 | A | AAAACAAA others(5): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02257.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0049a0001c0001t0001g0052others(7): Show | 16 | 418 | 0.0383 | 12 | c.-31 others(27): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
ATP5MC2_chr12_53660170_53681083 | 53679238 | C | CGAGAGAG others(5): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 NA18522.hp1 NA18943.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0065a0001c0001t0001g0106others(5): Show | 8 | 418 | 0.0191 | 12 | c.-32 others(23): Show |
ATP5MC2 | ENSG00000135390.21 | transcript | ENST00000394349.9 | protein_coding | 3156 | chr12 | TogoVar |