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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2M_chr12_9062708_9120919 | 9120886 | T | TGTGTGTG others(2): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 HG02698.hp2 NA19063.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0202 | 4 | 332 | 0.0121 | 9 | c.-50 others(20): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 4968 | chr12 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42696121 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(86): Show |
a0002a0005 | a0002c0003a0002c0008a0005c0006 | a0002c0003t0001a0002c0003t0004a0002c0003t0008others(3): Show | a0002c0003t0001g0002a0002c0003t0001g0008a0002c0003t0001g0009others(81): Show | 89 | 406 | 0.2192 | 9 | c.-18 others(26): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42722222 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 HG02293.hp1 HG02735.hp2 others(10): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0013 | a0001c0001t0007a0001c0001t0016a0001c0001t0020others(3): Show | a0001c0001t0007g0059a0001c0001t0016g0056a0001c0001t0020g0026others(10): Show | 13 | 406 | 0.0320 | 9 | c.-16 others(20): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1353 | chr22 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125112678 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02451.hp2 others(6): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0004a0001c0009others(3): Show | a0001c0001t0001a0001c0004t0004a0001c0009t0001others(3): Show | a0001c0001t0001g0077a0001c0001t0001g0356a0001c0001t0001g0357others(6): Show | 9 | 364 | 0.0247 | 9 | c.916 others(26): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AADAT_chr4_170055222_170094956 | 170056435 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG02129.hp1 HG02132.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0039others(4): Show | 10 | 378 | 0.0265 | 9 | c.*44 others(20): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3786 | chr4 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69464194 | A | AAACAACA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01433.hp1 HG02572.hp2 HG02970.hp2 |
a0001a0003a0004 | a0001c0001a0003c0020a0004c0013 | a0001c0001t0104a0003c0020t0084a0004c0013t0043 | a0001c0001t0104g0292a0003c0020t0084g0105a0004c0013t0043g0284 | 3 | 298 | 0.0101 | 9 | c.*11 others(22): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 22/22 | 11674 | chr2 | TogoVar | |||||
AAK1_chr2_69452997_69648739 | 69633217 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01258.hp1 HG02040.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0004a0001c0001t0006a0001c0008t0135others(2): Show | a0001c0001t0004g0254a0001c0001t0004g0257a0001c0001t0004g0259others(5): Show | 8 | 298 | 0.0269 | 9 | c.163 others(26): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69644165 | T | TTCGCGCC others(2): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02965.hp1 |
a0001 | a0001c0001a0001c0009a0001c0011 | a0001c0001t0124a0001c0009t0125a0001c0011t0029 | a0001c0001t0124g0188a0001c0009t0125g0179a0001c0011t0029g0293 | 3 | 298 | 0.0101 | 9 | c.-82 others(18): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 427 | chr2 | TogoVar | ||||||
AANAT_chr17_76462603_76475117 | 76463309 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG00741.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(1): Show | 42 | 426 | 0.0986 | 9 | c.-44 others(20): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 4293 | chr17 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56341389 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(32): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0003a0003c0003t0002g0010a0003c0003t0002g0025others(25): Show | 35 | 382 | 0.0916 | 9 | c.290 others(28): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | chr4 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122140485 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG01361.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0067a0001c0001t0001g0068others(13): Show | 17 | 384 | 0.0443 | 9 | c.-16 others(26): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37009823 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02258.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0025a0001c0001t0001g0029a0001c0001t0001g0030others(2): Show | 5 | 245 | 0.0204 | 9 | c.139 others(28): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37014267 | G | GTAATAAT others(2): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02647.hp2 HG02886.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0004 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0026others(7): Show | 10 | 245 | 0.0408 | 9 | c.139 others(28): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATK_chr17_81112295_81171221 | 81140854 | G | GCCGTGGG others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp2 others(3): Show |
a0003 | a0003c0003a0003c0007a0003c0020 | a0003c0003t0002a0003c0007t0001a0003c0020t0001 | a0003c0003t0002g0009a0003c0003t0002g0047a0003c0007t0001g0121others(1): Show | 6 | 368 | 0.0163 | 9 | c.56- others(24): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81141531 | G | GGCCACAG others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02809.hp1 HG02895.hp1 others(2): Show |
a0007a0012a0015others(1): Show | a0007c0071a0012c0016a0015c0022others(1): Show | a0007c0071t0001a0012c0016t0001a0015c0022t0012others(1): Show | a0007c0071t0001g0204a0012c0016t0001g0184a0015c0022t0012g0246others(2): Show | 5 | 368 | 0.0136 | 9 | c.56- others(24): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81141928 | C | CTTCCTTC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00733.hp2 others(54): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0011a0001c0066others(28): Show | a0001c0001t0001a0001c0011t0001a0001c0066t0001others(31): Show | a0001c0001t0001g0005a0001c0001t0001g0098a0001c0001t0001g0143others(49): Show | 57 | 368 | 0.1549 | 9 | c.56- others(24): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8754179 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp1 others(62): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0022others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0058a0001c0001t0001g0076a0001c0001t0001g0090others(62): Show | 65 | 362 | 0.1796 | 9 | c.317 others(26): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCA10_chr17_69143007_69233824 | 69210081 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01074.hp2 HG01243.hp2 others(19): Show |
a0001a0004a0009others(1): Show | a0001c0001a0004c0004a0009c0018others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(5): Show | a0001c0001t0002g0040a0001c0001t0002g0066a0001c0001t0002g0079others(19): Show | 22 | 348 | 0.0632 | 9 | c.100 others(28): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69210842 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02559.hp1 HG02630.hp1 others(6): Show |
a0005a0006 | a0005c0005a0006c0007 | a0005c0005t0004a0006c0007t0004 | a0005c0005t0004g0184a0005c0005t0004g0199a0005c0005t0004g0213others(6): Show | 9 | 348 | 0.0259 | 9 | c.100 others(28): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214981942 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01517.hp2 HG02818.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0023others(3): Show | a0001c0002t0001a0001c0002t0011a0001c0003t0001others(4): Show | a0001c0002t0001g0028a0001c0002t0001g0061a0001c0002t0001g0151others(6): Show | 9 | 198 | 0.0455 | 9 | c.457 others(26): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 30/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215016582 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01258.hp1 HG02293.hp1 HG02293.hp2 others(2): Show |
a0001 | a0001c0004a0001c0006a0001c0011 | a0001c0004t0001a0001c0004t0010a0001c0006t0002others(1): Show | a0001c0004t0001g0042a0001c0004t0010g0198a0001c0006t0002g0171others(2): Show | 5 | 198 | 0.0253 | 9 | c.178 others(26): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 14/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215062684 | C | CGGCATGC others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01070.hp1 HG01070.hp2 others(69): Show |
a0001a0002a0007others(8): Show | a0001c0001a0001c0002a0001c0004others(23): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(38): Show | a0001c0001t0002g0030a0001c0001t0002g0035a0001c0001t0002g0117others(69): Show | 72 | 198 | 0.3636 | 9 | c.317 others(26): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 3/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215086919 | T | TTCATTAT others(2): Show |
intron_variant | MODIFIER | NA18906.hp1 NA18906.hp2 |
a0003a0004 | a0003c0065a0004c0061 | a0003c0065t0001a0004c0061t0015 | a0003c0065t0001g0103a0004c0061t0015g0181 | 2 | 198 | 0.0101 | 9 | c.164 others(28): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215086919 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02647.hp2 HG02922.hp2 others(2): Show |
a0001a0005 | a0001c0003a0001c0010a0001c0012others(2): Show | a0001c0003t0001a0001c0010t0009a0001c0012t0004others(2): Show | a0001c0003t0001g0044a0001c0010t0009g0001a0001c0012t0004g0065others(2): Show | 5 | 198 | 0.0253 | 9 | c.164 others(28): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48231656 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02723.hp2 HG06807.hp1 others(1): Show |
a0012a0023a0057others(1): Show | a0012c0045a0023c0018a0057c0036others(1): Show | a0012c0045t0002a0023c0018t0004a0057c0036t0007others(1): Show | a0012c0045t0002g0075a0023c0018t0004g0091a0057c0036t0007g0083others(1): Show | 4 | 178 | 0.0225 | 9 | c.763 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48232139 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01243.hp1 HG02615.hp2 others(6): Show |
a0007a0009a0016others(5): Show | a0007c0101a0009c0107a0016c0094others(6): Show | a0007c0101t0003a0009c0107t0001a0016c0094t0002others(6): Show | a0007c0101t0003g0139a0009c0107t0001g0112a0016c0094t0002g0078others(6): Show | 9 | 178 | 0.0506 | 9 | c.764 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48410093 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00741.hp1 others(17): Show |
a0001a0002a0003others(10): Show | a0001c0010a0002c0022a0003c0003others(11): Show | a0001c0010t0002a0002c0022t0002a0003c0003t0004others(13): Show | a0001c0010t0002g0074a0002c0022t0002g0124a0003c0003t0004g0029others(17): Show | 20 | 178 | 0.1124 | 9 | c.120 others(28): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48431342 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03471.hp2 HG03579.hp1 others(1): Show |
a0007a0022a0037others(1): Show | a0007c0011a0022c0020a0037c0100others(1): Show | a0007c0011t0007a0022c0020t0001a0037c0100t0001others(1): Show | a0007c0011t0007g0165a0022c0020t0001g0007a0037c0100t0001g0041others(1): Show | 4 | 178 | 0.0225 | 9 | c.125 others(30): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48624532 | C | CGTTGTTG others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(143): Show |
a0001a0002a0003others(74): Show | a0001c0001a0001c0010a0001c0103others(97): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(112): Show | a0001c0001t0001g0004a0001c0001t0001g0064a0001c0001t0001g0177others(143): Show | 146 | 178 | 0.8202 | 9 | c.148 others(30): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 59/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA1_chr9_104776006_104933155 | 104882028 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02895.hp2 HG02922.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0015a0003c0038others(3): Show | a0001c0001t0001a0002c0015t0013a0003c0038t0005others(3): Show | a0001c0001t0001g0195a0002c0015t0013g0305a0003c0038t0005g0307others(3): Show | 6 | 318 | 0.0189 | 9 | c.421 others(26): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104928903 | G | GAAACAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(65): Show |
a0001a0003a0004others(14): Show | a0001c0001a0001c0005a0001c0035others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(46): Show | a0001c0001t0001g0026a0001c0001t0001g0077a0001c0001t0001g0082others(65): Show | 68 | 318 | 0.2138 | 9 | c.-10 others(20): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 749 | chr9 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69274839 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01257.hp2 HG01258.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0016a0001c0004t0005g0324a0001c0004t0005g0325others(3): Show | 6 | 350 | 0.0171 | 9 | c.259 others(26): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 19/38 | chr17 | TogoVar | ||||||
ABCA5_chr17_69239311_69332133 | 69303759 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01074.hp2 others(7): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0008others(1): Show | a0001c0002t0001a0001c0002t0013a0001c0006t0001others(3): Show | a0001c0002t0001g0002a0001c0002t0001g0073a0001c0002t0001g0122others(6): Show | 10 | 350 | 0.0286 | 9 | c.931 others(24): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69103911 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02451.hp1 others(5): Show |
a0002a0003a0005others(1): Show | a0002c0002a0003c0003a0003c0009others(2): Show | a0002c0002t0002a0003c0003t0001a0003c0009t0001others(2): Show | a0002c0002t0002g0187a0003c0003t0001g0270a0003c0003t0001g0271others(5): Show | 8 | 326 | 0.0245 | 9 | c.274 others(26): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 20/38 | chr17 | TogoVar | ||||||
ABCA6_chr17_69073702_69146895 | 69134888 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(9): Show |
a0003a0006 | a0003c0009a0006c0007a0006c0010 | a0003c0009t0001a0006c0007t0001a0006c0010t0001 | a0003c0009t0001g0261a0006c0007t0001g0008a0006c0007t0001g0021others(5): Show | 12 | 326 | 0.0368 | 9 | c.461 others(24): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4/38 | chr17 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1050782 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18983.hp1 NA19066.hp1 others(3): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0009a0004c0004others(3): Show | a0001c0001t0003a0002c0009t0001a0004c0004t0001others(3): Show | a0001c0001t0003g0018a0002c0009t0001g0008a0004c0004t0001g0023others(3): Show | 6 | 30 | 0.2000 | 9 | c.255 others(26): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABCA8_chr17_68862289_68960392 | 68958575 | A | ATAATATA others(2): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 HG02896.hp1 HG02965.hp1 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0006a0004c0008others(2): Show | a0001c0001t0001a0002c0006t0001a0004c0008t0001others(2): Show | a0001c0001t0001g0155a0001c0001t0001g0207a0001c0001t0001g0239others(7): Show | 10 | 274 | 0.0365 | 9 | c.-35 others(20): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3184 | chr17 | TogoVar | ||||||
ABCB1_chr7_87498017_87605884 | 87502546 | A | ATTATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 HG03453.hp1 HG03516.hp1 |
a0001a0013 | a0001c0001a0001c0003a0013c0019 | a0001c0001t0009a0001c0003t0009a0013c0019t0009 | a0001c0001t0009g0267a0001c0003t0009g0113a0013c0019t0009g0237 | 3 | 352 | 0.0085 | 9 | c.*16 others(20): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 470 | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20661534 | C | CTCTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG01071.hp2 others(16): Show |
a0002a0007a0012others(7): Show | a0002c0012a0007c0011a0012c0013others(8): Show | a0002c0012t0001a0007c0011t0001a0007c0011t0004others(11): Show | a0002c0012t0001g0084a0007c0011t0001g0077a0007c0011t0001g0079others(16): Show | 19 | 360 | 0.0528 | 9 | c.170 others(28): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20679471 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(112): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0005a0002c0003others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(52): Show | a0001c0001t0001g0114a0001c0001t0001g0182a0001c0001t0001g0183others(112): Show | 115 | 360 | 0.3194 | 9 | c.170 others(28): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20704075 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02109.hp1 HG02615.hp1 others(10): Show |
a0001a0004a0007others(6): Show | a0001c0001a0001c0064a0004c0004others(8): Show | a0001c0001t0001a0001c0064t0001a0004c0004t0001others(9): Show | a0001c0001t0001g0138a0001c0064t0001g0246a0004c0004t0001g0132others(10): Show | 13 | 360 | 0.0361 | 9 | c.233 others(26): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB7_chrX_75046048_75161283 | 75104047 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0158a0001c0001t0010g0161 | 2 | 232 | 0.0086 | 9 | c.334 others(26): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75104047 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00639.hp2 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0024a0001c0001t0001g0029others(24): Show | 28 | 232 | 0.1207 | 9 | c.334 others(26): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15949611 | G | GCGCCGCC others(2): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG02109.hp1 HG02145.hp2 others(14): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0020others(10): Show | a0001c0001t0004g0106a0001c0001t0005g0094a0001c0001t0005g0099others(14): Show | 17 | 249 | 0.0683 | 9 | c.-14 others(18): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16010037 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02647.hp1 HG02717.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(6): Show | a0001c0001t0001g0069a0001c0001t0004g0118a0001c0002t0001g0080others(7): Show | 10 | 249 | 0.0402 | 9 | c.351 others(24): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16034023 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02970.hp1 HG02976.hp1 HG03139.hp1 others(2): Show |
a0001a0007 | a0001c0001a0007c0027 | a0001c0001t0004a0001c0001t0005a0007c0027t0001 | a0001c0001t0004g0106a0001c0001t0005g0024a0001c0001t0005g0025others(2): Show | 5 | 249 | 0.0201 | 9 | c.677 others(24): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC2_chr10_99777640_99857594 | 99839089 | G | GGGGGGCA others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01516.hp1 HG03239.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0056a0001c0001t0001g0259others(6): Show | 9 | 336 | 0.0268 | 9 | c.361 others(28): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | chr10 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50651066 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01884.hp2 HG02055.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0008a0001c0001t0001g0087a0001c0001t0001g0306others(12): Show | 15 | 342 | 0.0439 | 9 | c.46- others(24): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC4_chr13_95014835_95306451 | 95151608 | G | GAGAAGGA others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02630.hp2 others(10): Show |
a0001a0002 | a0001c0002a0001c0009a0001c0024others(10): Show | a0001c0002t0005a0001c0009t0001a0001c0024t0006others(10): Show | a0001c0002t0005g0027a0001c0009t0001g0047a0001c0024t0006g0032others(10): Show | 13 | 248 | 0.0524 | 9 | c.245 others(28): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 19/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95244620 | A | AGGAAGGA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG01256.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0126a0001c0001t0001g0173a0001c0001t0001g0198others(2): Show | 5 | 248 | 0.0202 | 9 | c.306 others(26): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 3/30 | chr13 | TogoVar |