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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANP32E_chr1_150213417_150241112 | 150225665 | T | TCAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02615.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0007 | a0001c0003t0001g0300a0001c0003t0001g0314a0001c0003t0007g0298others(1): Show | 4 | 370 | 0.0108 | 9 | c.681 others(24): Show |
ANP32E | ENSG00000143401.15 | transcript | ENST00000583931.6 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
ANPEP_chr15_89779895_89819852 | 89781953 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG01109.hp2 others(25): Show |
a0001a0002a0003others(5): Show | a0001c0002a0002c0001a0003c0004others(6): Show | a0001c0002t0007a0002c0001t0001a0003c0004t0002others(7): Show | a0001c0002t0007g0346a0002c0001t0001g0120a0003c0004t0002g0023others(25): Show | 28 | 404 | 0.0693 | 9 | c.*33 others(20): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 2941 | chr15 | TogoVar | ||||||
ANTKMT_chr16_716146_727590 | 719796 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG02074.hp1 NA18940.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 7 | 392 | 0.0179 | 9 | c.-14 others(20): Show |
ANTKMT | ENSG00000103254.10 | transcript | ENST00000569529.6 | protein_coding | 1349 | chr16 | TogoVar | ||||||
ANXA10_chr4_168087537_168192736 | 168155655 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02970.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0235a0001c0001t0001g0236a0001c0003t0001g0014 | 3 | 284 | 0.0106 | 9 | c.196 others(26): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
ANXA10_chr4_168087537_168192736 | 168155721 | A | ATAAATAT others(2): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG03041.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0108a0002c0002t0001g0200a0002c0002t0001g0201 | 3 | 284 | 0.0106 | 9 | c.196 others(26): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
ANXA10_chr4_168087537_168192736 | 168156183 | T | TTATATAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(86): Show |
a0001 | a0001c0001a0001c0008a0001c0009 | a0001c0001t0001a0001c0008t0001a0001c0009t0001 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0019others(85): Show | 89 | 284 | 0.3134 | 9 | c.196 others(26): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANXA10_chr4_168087537_168192736 | 168182318 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0001a0001c0003t0001a0001c0011t0001 | a0001c0001t0001g0018a0001c0001t0001g0042a0001c0001t0001g0213others(5): Show | 8 | 284 | 0.0282 | 9 | c.783 others(24): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANXA10_chr4_168087537_168192736 | 168188545 | C | CGAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218a0001c0001t0001g0219a0001c0001t0001g0228others(2): Show | 5 | 284 | 0.0176 | 9 | c.*11 others(20): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 810 | chr4 | TogoVar | ||||||
ANXA2R_chr5_43034371_43045319 | 43043895 | T | TAATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG01361.hp2 HG01884.hp1 others(17): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0004c0004t0001 | a0001c0001t0001g0000a0001c0001t0002g0000a0004c0004t0001g0000 | 20 | 296 | 0.0676 | 9 | c.-38 others(20): Show |
ANXA2R | ENSG00000177721.5 | transcript | ENST00000616064.2 | protein_coding | 3577 | chr5 | TogoVar | ||||||
ANXA3_chr4_78546770_78615447 | 78578330 | A | AGAGAGAG others(2): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01255.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0237a0001c0001t0001g0238a0001c0001t0001g0279others(1): Show | 4 | 330 | 0.0121 | 9 | c.104 others(24): Show |
ANXA3 | ENSG00000138772.13 | transcript | ENST00000264908.11 | protein_coding | 3/12 | chr4 | TogoVar | ||||||
ANXA3_chr4_78546770_78615447 | 78590832 | A | AAGCCACT others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0006 | a0001c0002t0001g0019a0001c0002t0001g0037a0001c0002t0001g0041others(3): Show | 6 | 330 | 0.0182 | 9 | c.404 others(24): Show |
ANXA3 | ENSG00000138772.13 | transcript | ENST00000264908.11 | protein_coding | 6/12 | chr4 | TogoVar | ||||||
ANXA3_chr4_78546770_78615447 | 78593625 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02145.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0001g0299a0001c0002t0001g0019a0001c0002t0001g0037others(20): Show | 23 | 330 | 0.0697 | 9 | c.484 others(26): Show |
ANXA3 | ENSG00000138772.13 | transcript | ENST00000264908.11 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANXA4_chr2_69737134_69832112 | 69785551 | T | TTGATGAT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01167.hp1 HG01243.hp1 others(28): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0003g0004a0001c0001t0003g0137a0001c0001t0003g0142others(27): Show | 31 | 346 | 0.0896 | 9 | c.10- others(24): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANXA4_chr2_69737134_69832112 | 69793250 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02155.hp1 HG02155.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0003g0176a0001c0001t0005g0334a0001c0001t0005g0336others(6): Show | 9 | 346 | 0.0260 | 9 | c.97+ others(24): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANXA6_chr5_151095706_151162779 | 151114613 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01175.hp1 others(10): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(4): Show | a0001c0002t0001g0028a0001c0003t0001g0133a0001c0003t0001g0153others(10): Show | 13 | 408 | 0.0319 | 9 | c.157 others(28): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 20/25 | chr5 | TogoVar | ||||||
ANXA7_chr10_73370101_73419058 | 73401263 | A | ATACACAC others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01346.hp1 HG02257.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0044a0001c0002t0002g0050a0001c0002t0002g0051others(7): Show | 10 | 264 | 0.0379 | 9 | c.-1- others(22): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 1/12 | chr10 | TogoVar | ||||||
ANXA7_chr10_73370101_73419058 | 73416109 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG01256.hp2 HG02602.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0009a0001c0002t0002g0013a0001c0002t0002g0048others(9): Show | 12 | 264 | 0.0455 | 9 | c.-21 others(20): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 2052 | chr10 | TogoVar | ||||||
ANXA8_chr10_47462993_47489115 | 47465077 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 HG01433.hp2 HG02559.hp2 others(27): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0022others(13): Show | 30 | 412 | 0.0728 | 9 | c.*37 others(20): Show |
ANXA8 | ENSG00000265190.7 | transcript | ENST00000585281.6 | protein_coding | 2915 | chr10 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36517206 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03130.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0067a0001c0001t0001g0082others(1): Show | 4 | 306 | 0.0131 | 9 | c.160 others(28): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94765439 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG00639.hp2 others(35): Show |
a0001a0003a0006 | a0001c0001a0001c0014a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0029a0001c0001t0001g0031a0001c0001t0001g0034others(35): Show | 38 | 182 | 0.2088 | 9 | c.797 others(26): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94859027 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(122): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0015a0001c0016others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0016others(122): Show | 125 | 182 | 0.6868 | 9 | c.136 others(30): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94895219 | T | TAATAAAA others(2): Show |
intron_variant | MODIFIER | HG04204.hp1 NA18971.hp2 NA18991.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0118a0005c0005t0001g0113a0005c0005t0001g0114others(1): Show | 4 | 182 | 0.0220 | 9 | c.136 others(30): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94906455 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02155.hp1 HG03098.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0031a0001c0001t0002g0007a0001c0001t0002g0017others(9): Show | 12 | 182 | 0.0659 | 9 | c.136 others(30): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94934315 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG02922.hp1 others(2): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0003a0007c0006t0003 | a0001c0001t0003g0108a0007c0006t0003g0104a0007c0006t0003g0106others(2): Show | 5 | 182 | 0.0275 | 9 | c.166 others(28): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95020918 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01258.hp2 HG01515.hp1 others(18): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0038a0001c0001t0001g0067a0001c0001t0001g0071others(18): Show | 21 | 182 | 0.1154 | 9 | c.211 others(30): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95041444 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | NA18969.hp1 NA19088.hp2 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0074a0005c0005t0001g0117 | 2 | 182 | 0.0110 | 9 | c.211 others(30): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | chr9 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200657161 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(65): Show |
a0001a0002a0005 | a0001c0001a0001c0008a0001c0019others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0002others(4): Show | a0001c0001t0001g0196a0001c0001t0001g0357a0001c0001t0002g0017others(65): Show | 68 | 370 | 0.1838 | 9 | c.317 others(26): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200663596 | T | TCTCTCTC others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(93): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0027a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(10): Show | a0001c0001t0001g0054a0001c0001t0001g0124a0001c0001t0001g0162others(93): Show | 96 | 370 | 0.2595 | 9 | c.354 others(26): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 31/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AP1B1_chr22_29322680_29393570 | 29351925 | G | GGCACAGA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG02083.hp2 others(11): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0257a0001c0002t0001g0272a0001c0002t0001g0275others(11): Show | 14 | 378 | 0.0370 | 9 | c.939 others(24): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 7/22 | chr22 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29370466 | A | AAAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02071.hp1 HG02145.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0009a0001c0003t0014 | a0001c0003t0002g0036a0001c0003t0002g0096a0001c0003t0002g0098others(4): Show | 7 | 378 | 0.0185 | 9 | c.-27 others(26): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 1/22 | chr22 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71768500 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02257.hp1 others(16): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0016others(5): Show | a0001c0001t0002g0298a0001c0001t0005g0043a0001c0001t0016g0041others(16): Show | 19 | 320 | 0.0594 | 9 | c.642 others(26): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 6/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71782466 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02486.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0023 | a0001c0001t0005g0093a0001c0001t0005g0112a0001c0001t0005g0114others(8): Show | 11 | 320 | 0.0344 | 9 | c.201 others(26): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 2/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71794835 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01168.hp1 HG01169.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(4): Show | a0001c0001t0005g0122a0001c0001t0007g0071a0001c0001t0007g0072others(15): Show | 18 | 320 | 0.0563 | 9 | c.-3- others(24): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16215194 | C | CAGGGGCG others(2): Show |
intron_variant | MODIFIER | NA18971.hp2 NA19002.hp2 NA19007.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0002a0001c0002t0015 | a0001c0001t0008g0261a0001c0002t0002g0155a0001c0002t0002g0164others(1): Show | 4 | 308 | 0.0130 | 9 | c.546 others(26): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16244882 | T | TTTGTTGT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01358.hp1 NA18955.hp2 NA18971.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0122a0001c0001t0129a0001c0001t0131others(2): Show | a0001c0001t0122g0274a0001c0001t0129g0232a0001c0001t0131g0236others(2): Show | 5 | 308 | 0.0162 | 9 | c.*10 others(22): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 10481 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M1_chr19_16192911_16250906 | 16244882 | T | TTTTTTGT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01346.hp2 HG01433.hp2 HG02145.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0009a0001c0001t0035others(14): Show | a0001c0001t0006g0001a0001c0001t0006g0024a0001c0001t0006g0025others(22): Show | 28 | 308 | 0.0909 | 9 | c.*10 others(22): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 10450 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M1_chr19_16192911_16250906 | 16250325 | T | TGTGTGTG others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG03927.hp2 HG04204.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0149a0001c0002t0002a0001c0002t0005 | a0001c0001t0149g0231a0001c0002t0002g0125a0001c0002t0005g0161 | 3 | 308 | 0.0097 | 9 | c.*15 others(22): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4420 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00639.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0196a0001c0001t0001g0286a0001c0001t0001g0289others(32): Show | 39 | 394 | 0.0990 | 9 | c.*25 others(20): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834439 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 318 | 0.0031 | 9 | c.427 others(26): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834479 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03704.hp2 NA19076.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0145a0001c0001t0001g0172 | 3 | 318 | 0.0094 | 9 | c.427 others(26): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49772254 | T | TTTTGTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01081.hp2 HG02055.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0001 | a0001c0001t0001g0178a0001c0001t0001g0189a0001c0001t0002g0044others(8): Show | 11 | 342 | 0.0322 | 9 | c.67+ others(24): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35707134 | C | CTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0292a0001c0002t0001g0293a0001c0002t0001g0295others(3): Show | 6 | 372 | 0.0161 | 9 | c.245 others(28): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35720574 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01515.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0357a0001c0001t0005g0134a0001c0001t0005g0149others(1): Show | 4 | 372 | 0.0108 | 9 | c.278 others(28): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | chr17 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78059555 | A | ACTCAGCT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00642.hp2 others(101): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(101): Show | 104 | 226 | 0.4602 | 9 | c.257 others(30): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78184686 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02630.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0077a0001c0004t0002g0001a0001c0004t0002g0002others(3): Show | 6 | 226 | 0.0266 | 9 | c.787 others(26): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78229570 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02280.hp1 HG02451.hp1 others(6): Show |
a0001a0006 | a0001c0005a0006c0013 | a0001c0005t0001a0001c0005t0002a0006c0013t0002 | a0001c0005t0001g0195a0001c0005t0002g0187a0001c0005t0002g0188others(6): Show | 9 | 226 | 0.0398 | 9 | c.280 others(26): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78298993 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG01168.hp1 HG01168.hp2 others(37): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(5): Show | a0001c0001t0001g0037a0001c0001t0001g0197a0001c0001t0001g0198others(37): Show | 40 | 226 | 0.1770 | 9 | c.-44 others(20): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 4296 | chr5 | TogoVar | ||||||
AP3M2_chr8_42148063_42176183 | 42166591 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01258.hp2 HG01891.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0003g0011a0001c0001t0003g0146a0001c0001t0003g0147others(10): Show | 19 | 392 | 0.0485 | 9 | c.804 others(24): Show |
AP3M2 | ENSG00000070718.13 | transcript | ENST00000396926.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
AP3S1_chr5_115836935_115919081 | 115839322 | T | TGCATGCA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(137): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(124): Show | 140 | 378 | 0.3704 | 9 | c.-27 others(20): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 2612 | chr5 | TogoVar | ||||||
AP4B1_chr1_113889194_113909799 | 113897142 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG01891.hp1 others(16): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0015a0001c0001t0001g0074a0001c0003t0001g0031others(6): Show | 19 | 434 | 0.0438 | 9 | c.130 others(26): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 7/9 | chr1 | TogoVar |