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 | 150222439 | TAAAATAA others(4): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0249 | 1 | 370 | 0.0027 | -11 | c.736 others(26): Show |
ANP32E | ENSG00000143401.15 | transcript | ENST00000583931.6 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
ANTKMT_chr16_716146_727590 | 719796 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 NA18990.hp2 NA18993.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0003g0001 | 6 | 392 | 0.0153 | -11 | c.-14 others(22): Show |
ANTKMT | ENSG00000103254.10 | transcript | ENST00000569529.6 | protein_coding | 1349 | chr16 | TogoVar | ||||||
ANTXR1_chr2_69008179_69254327 | 69234938 | CACATTCT others(4): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126a0001c0001t0001g0183 | 2 | 206 | 0.0097 | -11 | c.143 others(32): Show |
ANTXR1 | ENSG00000169604.21 | transcript | ENST00000303714.9 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANTXR2_chr4_79896146_80078229 | 80061669 | TAATTCAC others(4): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(99): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0003a0001c0001t0001g0089a0001c0001t0001g0090others(98): Show | 102 | 268 | 0.3806 | -11 | c.297 others(28): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 3/16 | chr4 | TogoVar | ||||||
ANXA10_chr4_168087537_168192736 | 168153437 | AAAAACAA others(4): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01361.hp2 HG01884.hp2 others(16): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0008a0001c0001t0001g0079a0001c0001t0001g0080others(16): Show | 19 | 284 | 0.0669 | -11 | c.196 others(28): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANXA10_chr4_168087537_168192736 | 168155784 | TATTATAT others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01081.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(4): Show | 8 | 284 | 0.0282 | -11 | c.196 others(28): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
ANXA10_chr4_168087537_168192736 | 168155880 | TGTTATAT others(4): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0108 | 1 | 284 | 0.0035 | -11 | c.196 others(28): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
ANXA10_chr4_168087537_168192736 | 168182318 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0180 | 1 | 284 | 0.0035 | -11 | c.783 others(26): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANXA10_chr4_168087537_168192736 | 168188561 | ATATATAT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 284 | 0.0035 | -11 | c.*11 others(22): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 826 | chr4 | TogoVar | ||||||
ANXA13_chr8_123675794_123742393 | 123677974 | GCATACCT others(4): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02818.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0162a0001c0001t0002g0308a0001c0001t0005g0328others(1): Show | 4 | 374 | 0.0107 | -11 | c.*32 others(22): Show |
ANXA13 | ENSG00000104537.17 | transcript | ENST00000419625.6 | protein_coding | 2819 | chr8 | TogoVar | ||||||
ANXA13_chr8_123675794_123742393 | 123719190 | GTCCTGAT others(4): Show |
G | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 374 | 0.0027 | -11 | c.16- others(26): Show |
ANXA13 | ENSG00000104537.17 | transcript | ENST00000419625.6 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60399024 | GTTTCTTG others(4): Show |
G | upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 334 | 0.0030 | -11 | c.-11 others(22): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 1039 | chr15 | TogoVar | ||||||
ANXA4_chr2_69737134_69832112 | 69757256 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02258.hp2 NA18997.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0030a0002c0002t0002g0040 | 2 | 346 | 0.0058 | -11 | c.-47 others(30): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANXA4_chr2_69737134_69832112 | 69757258 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | NA18982.hp1 NA19078.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0042a0002c0002t0002g0043 | 2 | 346 | 0.0058 | -11 | c.-47 others(30): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANXA4_chr2_69737134_69832112 | 69757260 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0103 | 1 | 346 | 0.0029 | -11 | c.-47 others(30): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANXA4_chr2_69737134_69832112 | 69757266 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 346 | 0.0029 | -11 | c.-47 others(30): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANXA4_chr2_69737134_69832112 | 69778775 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0207a0001c0001t0007g0300a0001c0001t0007g0308 | 3 | 346 | 0.0087 | -11 | c.-46 others(28): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANXA6_chr5_151095706_151162779 | 151103716 | GACACAGG others(4): Show |
G | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228a0001c0001t0001g0229 | 2 | 408 | 0.0049 | -11 | c.184 others(26): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 24/25 | chr5 | TogoVar | ||||||
ANXA6_chr5_151095706_151162779 | 151107875 | GTGTATGT others(4): Show |
G | intron_variant | MODIFIER | HG00558.hp1 NA18943.hp1 NA18952.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0002others(2): Show | a0001c0001t0001g0367a0001c0002t0001g0231a0001c0002t0001g0244others(3): Show | 7 | 408 | 0.0172 | -11 | c.178 others(28): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 23/25 | chr5 | TogoVar | ||||||
ANXA6_chr5_151095706_151162779 | 151114613 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG03225.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0008t0001 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0003g0045others(1): Show | 4 | 408 | 0.0098 | -11 | c.157 others(30): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 20/25 | chr5 | TogoVar | ||||||
ANXA7_chr10_73370101_73419058 | 73373994 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02717.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168a0001c0001t0001g0169a0001c0001t0001g0173 | 3 | 264 | 0.0114 | -11 | c.*20 others(22): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 1106 | chr10 | TogoVar | ||||||
ANXA7_chr10_73370101_73419058 | 73418131 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG02602.hp1 HG03490.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0082a0001c0002t0002g0084 | 2 | 264 | 0.0076 | -11 | c.-41 others(22): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 4074 | chr10 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36516006 | ACCCCTCA others(4): Show |
A | intron_variant | MODIFIER | NA18991.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0209 | 1 | 306 | 0.0033 | -11 | c.160 others(30): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36517930 | CCCACACA others(4): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 306 | 0.0033 | -11 | c.159 others(30): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36540131 | ATCTGATT others(4): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02895.hp2 HG02976.hp2 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0001a0001c0007t0001 | a0001c0003t0001g0260a0001c0007t0001g0016a0001c0007t0001g0029 | 3 | 306 | 0.0098 | -11 | c.130 others(28): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 16/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36563147 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02155.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072a0001c0001t0001g0092 | 2 | 306 | 0.0065 | -11 | c.102 others(32): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 13/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36620054 | CCAGAAAT others(4): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01192.hp2 HG01255.hp1 others(11): Show |
a0001a0002a0014 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0019others(11): Show | 14 | 306 | 0.0458 | -11 | c.702 others(26): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 9/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36684929 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0218 | 1 | 306 | 0.0033 | -11 | c.223 others(28): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36684932 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 NA19063.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0043a0001c0001t0001g0044a0002c0002t0001g0168 | 3 | 306 | 0.0098 | -11 | c.223 others(28): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AOC1_chr7_150847517_150866504 | 150865229 | GTCCTGCC others(4): Show |
G | downstream_gene_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0135 | 1 | 420 | 0.0024 | -11 | c.*40 others(22): Show |
AOC1 | ENSG00000002726.21 | transcript | ENST00000360937.9 | protein_coding | 3726 | chr7 | TogoVar | ||||||
AOC3_chr17_42846199_42863124 | 42863111 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 284 | 0.0035 | -11 | c.*65 others(22): Show |
AOC3 | ENSG00000131471.7 | transcript | ENST00000308423.7 | protein_coding | 4988 | chr17 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94869971 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(111): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0014a0001c0015others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0015others(111): Show | 114 | 182 | 0.6264 | -11 | c.136 others(32): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94885348 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00438.hp1 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0095 | 2 | 182 | 0.0110 | -11 | c.136 others(32): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94913281 | GGAGACTT others(4): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01243.hp2 others(53): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0016a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0115a0001c0001t0001g0118a0001c0001t0001g0120others(53): Show | 56 | 182 | 0.3077 | -11 | c.136 others(32): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94957202 | CTTTTTTG others(4): Show |
C | intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 182 | 0.0055 | -11 | c.187 others(30): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95035507 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 182 | 0.0055 | -11 | c.211 others(32): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95086173 | CGCGTCCA others(4): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0153 | 1 | 182 | 0.0055 | -11 | c.*5- others(24): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200654206 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0364 | 1 | 370 | 0.0027 | -11 | c.307 others(30): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AP1B1_chr22_29322680_29393570 | 29392378 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01109.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0273a0001c0003t0001g0094 | 2 | 378 | 0.0053 | -11 | c.-39 others(22): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 3809 | chr22 | TogoVar | ||||||
AP1G2_chr14_23554567_23572791 | 23560778 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 2 | 396 | 0.0051 | -11 | c.199 others(28): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 19/21 | chr14 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16201456 | TGGCACAA others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(170): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0020others(103): Show | a0001c0001t0004g0226a0001c0001t0004g0229a0001c0001t0004g0237others(170): Show | 173 | 308 | 0.5617 | -11 | c.43- others(26): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16220375 | CTTTTGGG others(4): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0064 | a0001c0002t0064g0169 | 1 | 308 | 0.0033 | -11 | c.547 others(28): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16231287 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 | 1 | 308 | 0.0033 | -11 | c.104 others(30): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16239239 | CTTTTTTT others(4): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02647.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0105a0001c0001t0115others(2): Show | a0001c0001t0024g0289a0001c0001t0024g0290a0001c0001t0105g0287others(3): Show | 6 | 308 | 0.0195 | -11 | c.*48 others(22): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 4834 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M2_chr19_10567671_10592312 | 10575759 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01934.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0251a0001c0001t0001g0255others(1): Show | 5 | 394 | 0.0127 | -11 | c.104 others(28): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 9/11 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10575769 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0165 | 1 | 394 | 0.0025 | -11 | c.104 others(28): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 9/11 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10584037 | CCACATCG others(4): Show |
C | frameshift_variant | HIGH | HG00735.hp1 | a0002 | a0002c0007 | a0002c0007t0003 | a0002c0007t0003g0158 | 1 | 394 | 0.0025 | -11 | c.65_ others(16): Show |
p.Lys others(4): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2/12 | 156/1748 | 65/1272 | 22/423 | chr19 | TogoVar | ||
AP1S2_chrX_15820806_15859813 | 15834468 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01106.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0135a0001c0001t0004g0005a0001c0001t0004g0186others(2): Show | 11 | 318 | 0.0346 | -11 | c.427 others(28): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223828058 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02109.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0028 | a0001c0001t0003g0184a0001c0001t0028g0178 | 2 | 340 | 0.0059 | -11 | c.3+9 others(24): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49771303 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 342 | 0.0029 | -11 | c.67+ others(26): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |