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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANKRD30B_chr18_14743172_14859667 | 14747257 | T | TAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG01978.hp2 HG02080.hp2 |
a0001a0002 | a0001c0011a0002c0002 | a0001c0011t0003a0002c0002t0001 | a0001c0011t0003g0223a0002c0002t0001g0136 | 2 | 316 | 0.0063 | 23 | c.-11 others(34): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 914 | chr18 | TogoVar | ||||||
ANKRD30B_chr18_14743172_14859667 | 14766493 | A | AAAGAAAA others(16): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01106.hp1 HG01109.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0034a0001c0001t0002g0019a0001c0001t0002g0276others(2): Show | 5 | 316 | 0.0158 | 23 | c.122 others(42): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 7/43 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ANKRD34B_chr5_80551755_80575280 | 80567621 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02300.hp1 NA18944.hp1 NA18947.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0055a0001c0001t0001g0091others(6): Show | 10 | 392 | 0.0255 | 23 | c.-19 others(40): Show |
ANKRD34B | ENSG00000189127.8 | transcript | ENST00000338682.8 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
ANKRD34B_chr5_80551755_80575280 | 80568925 | C | CACACACA others(16): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 392 | 0.0026 | 23 | c.-19 others(38): Show |
ANKRD34B | ENSG00000189127.8 | transcript | ENST00000338682.8 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
ANKRD39_chr2_96842990_96863016 | 96855972 | T | TCAACAAC others(16): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 314 | 0.0032 | 23 | c.101 others(40): Show |
ANKRD39 | ENSG00000213337.9 | transcript | ENST00000393537.5 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
ANKRD40CL_chr17_50756030_50772518 | 50761614 | T | TTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0055 | 1 | 456 | 0.0022 | 23 | c.202 others(38): Show |
ANKRD40CL | ENSG00000167117.10 | transcript | ENST00000450727.6 | protein_coding | 3/3 | chr17 | TogoVar | ||||||
ANKRD44_chr2_196981662_197315780 | 197170190 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0035 | 1 | 114 | 0.0088 | 23 | c.111 others(42): Show |
ANKRD44 | ENSG00000065413.20 | transcript | ENST00000282272.15 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
ANKRD55_chr5_56094680_56238330 | 56106420 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0300 | 1 | 308 | 0.0033 | 23 | c.163 others(42): Show |
ANKRD55 | ENSG00000164512.18 | transcript | ENST00000341048.9 | protein_coding | 10/11 | chr5 | TogoVar | ||||||
ANKRD55_chr5_56094680_56238330 | 56112511 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 308 | 0.0033 | 23 | c.966 others(38): Show |
ANKRD55 | ENSG00000164512.18 | transcript | ENST00000341048.9 | protein_coding | 9/11 | chr5 | TogoVar | ||||||
ANKRD55_chr5_56094680_56238330 | 56112512 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 308 | 0.0033 | 23 | c.966 others(38): Show |
ANKRD55 | ENSG00000164512.18 | transcript | ENST00000341048.9 | protein_coding | 9/11 | chr5 | TogoVar | ||||||
ANKRD55_chr5_56094680_56238330 | 56135211 | T | TTCCTTCC others(16): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0155 | 2 | 308 | 0.0065 | 23 | c.613 others(40): Show |
ANKRD55 | ENSG00000164512.18 | transcript | ENST00000341048.9 | protein_coding | 7/11 | chr5 | TogoVar | ||||||
ANKRD55_chr5_56094680_56238330 | 56135356 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG02572.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0125a0001c0004t0002g0251 | 2 | 308 | 0.0065 | 23 | c.613 others(40): Show |
ANKRD55 | ENSG00000164512.18 | transcript | ENST00000341048.9 | protein_coding | 7/11 | chr5 | TogoVar | ||||||
ANKRD55_chr5_56094680_56238330 | 56166091 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 308 | 0.0033 | 23 | c.422 others(40): Show |
ANKRD55 | ENSG00000164512.18 | transcript | ENST00000341048.9 | protein_coding | 5/11 | chr5 | TogoVar | ||||||
ANKRD55_chr5_56094680_56238330 | 56166095 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG01106.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0018a0002c0002others(1): Show | a0001c0001t0001a0001c0018t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0049a0001c0001t0001g0051a0001c0001t0001g0189others(7): Show | 10 | 308 | 0.0325 | 23 | c.422 others(40): Show |
ANKRD55 | ENSG00000164512.18 | transcript | ENST00000341048.9 | protein_coding | 5/11 | chr5 | TogoVar | ||||||
ANKRD55_chr5_56094680_56238330 | 56166099 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 308 | 0.0033 | 23 | c.422 others(40): Show |
ANKRD55 | ENSG00000164512.18 | transcript | ENST00000341048.9 | protein_coding | 5/11 | chr5 | TogoVar | ||||||
ANKRD55_chr5_56094680_56238330 | 56166111 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 | 1 | 308 | 0.0033 | 23 | c.422 others(40): Show |
ANKRD55 | ENSG00000164512.18 | transcript | ENST00000341048.9 | protein_coding | 5/11 | chr5 | TogoVar | ||||||
ANKRD62_chr18_12088843_12134764 | 12102106 | T | TTCTGCAA others(16): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02886.hp2 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0035 | 2 | 392 | 0.0051 | 23 | c.821 others(40): Show |
ANKRD62 | ENSG00000181626.12 | transcript | ENST00000587848.3 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ANKRD63_chr15_40273372_40288064 | 40275280 | G | GTTTTTTT others(16): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 410 | 0.0024 | 23 | c.*61 others(34): Show |
ANKRD63 | ENSG00000230778.2 | transcript | ENST00000434396.2 | protein_coding | 3091 | chr15 | TogoVar | ||||||
ANKRD7_chr7_118219704_118247732 | 118241521 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 406 | 0.0025 | 23 | c.*38 others(38): Show |
ANKRD7 | ENSG00000106013.15 | transcript | ENST00000265224.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ANKS1A_chr6_34884255_35096406 | 34973885 | T | TCCCCTTC others(16): Show |
intron_variant | MODIFIER | HG03579.hp2 NA20300.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0010 | a0001c0002t0004g0052a0001c0002t0010g0072 | 2 | 320 | 0.0063 | 23 | c.435 others(40): Show |
ANKS1A | ENSG00000064999.16 | transcript | ENST00000360359.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ANKS1A_chr6_34884255_35096406 | 34973885 | T | TCCCTTCC others(16): Show |
intron_variant | MODIFIER | HG02004.hp1 NA18986.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0265a0002c0003t0003g0274 | 2 | 320 | 0.0063 | 23 | c.435 others(40): Show |
ANKS1A | ENSG00000064999.16 | transcript | ENST00000360359.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ANKS1B_chr12_98738974_99989936 | 99121318 | G | GGGTGTGT others(16): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 48 | 0.0208 | 23 | c.252 others(44): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 15/26 | chr12 | TogoVar | ||||||
ANKS1B_chr12_98738974_99989936 | 99139440 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0015 | 1 | 48 | 0.0208 | 23 | c.252 others(44): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 15/26 | chr12 | TogoVar | ||||||
ANKS1B_chr12_98738974_99989936 | 99333854 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0022 | 1 | 48 | 0.0208 | 23 | c.175 others(44): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 12/26 | chr12 | TogoVar | ||||||
ANKZF1_chr2_219224806_219241679 | 219241436 | G | GTATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 376 | 0.0027 | 23 | c.*49 others(34): Show |
ANKZF1 | ENSG00000163516.14 | transcript | ENST00000323348.10 | protein_coding | 4758 | chr2 | TogoVar | ||||||
ANO10_chr3_43360848_43627011 | 43480979 | A | ATAATTGT others(16): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(186): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0019a0001c0001t0001g0061a0001c0001t0001g0065others(186): Show | 189 | 224 | 0.8438 | 23 | c.179 others(44): Show |
ANO10 | ENSG00000160746.13 | transcript | ENST00000292246.8 | protein_coding | 11/12 | chr3 | TogoVar | ||||||
ANO3_chr11_26327130_26668289 | 26586503 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01358.hp2 others(7): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0003a0001c0001t0018a0001c0001t0023others(3): Show | a0001c0001t0003g0089a0001c0001t0003g0137a0001c0001t0003g0140others(7): Show | 10 | 190 | 0.0526 | 23 | c.144 others(44): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO5_chr11_22188085_22288357 | 22252029 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0293a0001c0001t0006g0301a0001c0001t0008g0306 | 3 | 364 | 0.0082 | 23 | c.118 others(42): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ANO7_chr2_241183677_241230976 | 241221600 | A | AACTCCGA others(16): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0006 | a0006c0006 | a0006c0006t0003 | a0006c0006t0003g0112 | 1 | 396 | 0.0025 | 23 | c.232 others(42): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANO8_chr19_17318223_17339855 | 17335812 | A | ATGCTTGT others(16): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 HG02647.hp1 HG02809.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0009a0001c0002t0009g0051 | 10 | 364 | 0.0275 | 23 | c.-11 others(34): Show |
ANO8 | ENSG00000074855.11 | transcript | ENST00000159087.7 | protein_coding | 958 | chr19 | TogoVar | ||||||
ANO8_chr19_17318223_17339855 | 17335813 | C | TGCTTGTT others(16): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(95): Show |
a0001a0003a0006 | a0001c0002a0001c0004a0001c0008others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(11): Show | a0001c0002t0001g0008a0001c0002t0001g0016a0001c0002t0001g0017others(37): Show | 98 | 364 | 0.2692 | 23 | c.-11 others(33): Show |
ANO8 | ENSG00000074855.11 | transcript | ENST00000159087.7 | protein_coding | 958 | chr19 | TogoVar | ||||||
ANTXR1_chr2_69008179_69254327 | 69219422 | C | CACACACA others(16): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0062 | 1 | 206 | 0.0049 | 23 | c.143 others(44): Show |
ANTXR1 | ENSG00000169604.21 | transcript | ENST00000303714.9 | protein_coding | 17/17 | chr2 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60399021 | A | AGAGAGAG others(16): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 334 | 0.0030 | 23 | c.-10 others(34): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 1036 | chr15 | TogoVar | ||||||
AOC2_chr17_42839580_42855707 | 42848065 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 | 1 | 290 | 0.0035 | 23 | c.158 others(41): Show |
AOC2 | ENSG00000131480.9 | transcript | ENST00000253799.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AOC3_chr17_42846199_42863124 | 42848065 | C | CTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0008 | 1 | 284 | 0.0035 | 23 | c.-32 others(34): Show |
AOC3 | ENSG00000131471.7 | transcript | ENST00000308423.7 | protein_coding | 3133 | chr17 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94906483 | A | AATAATAA others(16): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 182 | 0.0055 | 23 | c.136 others(44): 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(16): Show |
intron_variant | MODIFIER | HG02976.hp2 HG06807.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0147a0001c0001t0001g0149a0001c0001t0002g0169 | 3 | 182 | 0.0165 | 23 | c.166 others(42): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200657165 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA18939.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0328a0001c0001t0002g0341 | 2 | 370 | 0.0054 | 23 | c.317 others(40): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200657165 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02056.hp2 HG03710.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165a0001c0001t0001g0241a0001c0001t0001g0324others(4): Show | 7 | 370 | 0.0189 | 23 | c.317 others(40): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200657165 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18978.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307a0001c0001t0001g0318a0001c0001t0001g0356 | 3 | 370 | 0.0081 | 23 | c.317 others(40): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200657190 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0003 | a0003c0018 | a0003c0018t0001 | a0003c0018t0001g0222 | 1 | 370 | 0.0027 | 23 | c.317 others(40): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AP1B1_chr22_29322680_29393570 | 29390582 | T | TTTTATTT others(16): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0015a0001c0001t0006g0016 | 2 | 378 | 0.0053 | 23 | c.-21 others(34): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2013 | chr22 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71736117 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0316 | 1 | 320 | 0.0031 | 23 | c.226 others(42): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16250325 | T | TGTGTGTG others(16): Show |
downstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0252 | 1 | 308 | 0.0033 | 23 | c.*15 others(36): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4420 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG02155.hp1 NA18612.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003a0001c0002t0002g0009a0001c0002t0002g0010others(6): Show | 9 | 394 | 0.0228 | 23 | c.*25 others(34): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10585280 | A | AAAGAAAG others(16): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 394 | 0.0025 | 23 | c.43- others(38): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834479 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG01943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072a0001c0001t0001g0197a0001c0001t0001g0206 | 3 | 318 | 0.0094 | 23 | c.427 others(40): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49801132 | G | GTCCCAGG others(16): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 342 | 0.0029 | 23 | c.155 others(38): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 935603 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18964.hp2 NA19066.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0002a0001c0003t0008a0001c0004t0002 | a0001c0002t0002g0240a0001c0002t0002g0248a0001c0003t0008g0189others(1): Show | 4 | 268 | 0.0149 | 23 | c.67+ others(38): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35720573 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 372 | 0.0027 | 23 | c.278 others(42): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |