| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ANGPT1_chr8_107244482_107502918 | 107361510 | CTATAGAA others(23): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01071.hp1 HG01074.hp1 others(28): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0125a0001c0001t0001g0151a0001c0001t0001g0167others(28): Show | 31 | 292 | 0.1062 | -30 | c.298 others(49): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
| ANGPT2_chr8_6494632_6568245 | 6505483 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(240): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(83): Show | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0057others(239): Show | 243 | 336 | 0.7232 | -30 | c.132 others(49): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
| ANGPTL5_chr11_101885674_101921522 | 101911094 | CTTTTTTT others(23): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01099.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0001g0257a0001c0001t0001g0258others(2): Show | 8 | 422 | 0.0190 | -30 | c.-92 others(47): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 1/8 | chr11 | TogoVar | ||||||
| ANGPTL6_chr19_10087338_10107678 | 10093975 | TAAGAGTT others(23): Show |
T | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 462 | 0.0022 | -30 | c.764 others(44): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 3/5 | chr19 | TogoVar | ||||||
| ANK3_chr10_60021298_60394875 | 60112298 | CAACATCT others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(56): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0008others(32): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(42): Show | a0001c0001t0001g0051a0001c0001t0001g0060a0001c0001t0001g0065others(56): Show | 59 | 192 | 0.3073 | -30 | c.294 others(49): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 26/43 | chr10 | TogoVar | ||||||
| ANKAR_chr2_189669670_189751647 | 189704544 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01081.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001a0001c0007t0003 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0007t0001g0227others(1): Show | 4 | 296 | 0.0135 | -30 | c.170 others(47): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ANKAR_chr2_189669670_189751647 | 189742835 | CACACACA others(23): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(91): Show |
a0001a0007a0011others(3): Show | a0001c0001a0007c0011a0011c0019others(3): Show | a0001c0001t0001a0007c0011t0001a0011c0019t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0086a0001c0001t0001g0087others(91): Show | 94 | 296 | 0.3176 | -30 | c.381 others(47): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ANKDD1A_chr15_64906902_64963691 | 64960418 | CCCAGCCA others(23): Show |
C | downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0014 | 1 | 338 | 0.0030 | -30 | c.*32 others(41): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 1728 | chr15 | TogoVar | ||||||
| ANKEF1_chr20_10029987_10063303 | 10034899 | GGGCGGAG others(23): Show |
G | upstream_gene_variant | MODIFIER | HG03195.hp2 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0123a0001c0002t0005g0122 | 2 | 392 | 0.0051 | -30 | c.-54 others(39): Show |
ANKEF1 | ENSG00000132623.16 | transcript | ENST00000378392.6 | protein_coding | 87 | chr20 | TogoVar | ||||||
| ANKFY1_chr17_4158821_4268979 | 4159043 | CGGCTCAC others(23): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01081.hp1 others(23): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0001t0015a0001c0001t0027others(5): Show | a0001c0001t0001g0231a0001c0001t0001g0234a0001c0001t0001g0240others(23): Show | 26 | 300 | 0.0867 | -30 | c.*87 others(41): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 4777 | chr17 | TogoVar | ||||||
| ANKHD1_chr5_140396833_140544849 | 140419917 | CCCCCTCC others(23): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0222 | 1 | 322 | 0.0031 | -30 | c.307 others(49): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ANKHD1_chr5_140396833_140544849 | 140458967 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG03139.hp2 NA18943.hp1 |
a0001a0009 | a0001c0001a0009c0016 | a0001c0001t0001a0009c0016t0001 | a0001c0001t0001g0196a0001c0001t0001g0245a0009c0016t0001g0199 | 3 | 322 | 0.0093 | -30 | c.148 others(47): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 8/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ANKRD11_chr16_89262630_89495561 | 89304325 | CACACAGG others(23): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 310 | 0.0032 | -30 | c.226 others(45): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 4/12 | chr16 | TogoVar | ||||||
| ANKRD28_chr3_15662236_15802979 | 15762189 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | NA19001.hp1 NA19087.hp1 NA19090.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0021 | a0001c0002t0001g0173a0001c0007t0021g0302a0001c0007t0021g0303 | 3 | 340 | 0.0088 | -30 | c.280 others(47): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 3/27 | chr3 | TogoVar | ||||||
| ANKRD29_chr18_23593926_23667911 | 23615974 | CTATGTAT others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0058a0001c0001t0002g0103a0001c0001t0002g0149others(3): Show | 6 | 352 | 0.0171 | -30 | c.723 others(47): Show |
ANKRD29 | ENSG00000154065.17 | transcript | ENST00000592179.6 | protein_coding | 8/9 | chr18 | TogoVar | ||||||
| ANKRD30A_chr10_37120598_37237567 | 37179486 | CTACATTA others(23): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG03471.hp1 |
a0001a0045 | a0001c0001a0045c0023 | a0001c0001t0001a0045c0023t0001 | a0001c0001t0001g0188a0045c0023t0001g0020 | 2 | 286 | 0.0070 | -30 | c.242 others(49): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 24/35 | chr10 | TogoVar | ||||||
| ANKRD31_chr5_75063297_75241878 | 75224131 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01515.hp2 HG01516.hp1 HG01981.hp1 others(30): Show |
a0002a0004a0011others(1): Show | a0002c0002a0004c0009a0011c0011others(1): Show | a0002c0002t0001a0002c0002t0008a0004c0009t0001others(2): Show | a0002c0002t0001g0021a0002c0002t0001g0022a0002c0002t0001g0023others(30): Show | 33 | 334 | 0.0988 | -30 | c.179 others(47): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
| ANKRD36C_chr2_95844548_95996824 | 95963944 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG01981.hp1 HG02132.hp2 |
a0004a0006 | a0004c0003a0006c0045 | a0004c0003t0001a0006c0045t0001 | a0004c0003t0001g0244a0006c0045t0001g0150 | 2 | 298 | 0.0067 | -30 | c.800 others(47): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 6/87 | chr2 | TogoVar | ||||||
| ANKRD44_chr2_196981662_197315780 | 197273974 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0072 | 1 | 114 | 0.0088 | -30 | c.27+ others(47): Show |
ANKRD44 | ENSG00000065413.20 | transcript | ENST00000282272.15 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
| ANKRD55_chr5_56094680_56238330 | 56231653 | GCACACAC others(23): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0265 | 1 | 308 | 0.0033 | -30 | c.58+ others(45): Show |
ANKRD55 | ENSG00000164512.18 | transcript | ENST00000341048.9 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
| ANKUB1_chr3_149756100_149797554 | 149766817 | AAGCAGCA others(23): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00642.hp2 others(77): Show |
a0001a0002a0008others(2): Show | a0001c0003a0001c0014a0002c0002others(5): Show | a0001c0003t0005a0001c0014t0004a0002c0002t0001others(6): Show | a0001c0003t0005g0035a0001c0003t0005g0305a0001c0014t0004g0048others(50): Show | 80 | 372 | 0.2151 | -30 | c.150 others(47): Show |
ANKUB1 | ENSG00000206199.11 | transcript | ENST00000446160.7 | protein_coding | 5/5 | chr3 | TogoVar | ||||||
| ANO3_chr11_26327130_26668289 | 26449467 | TGTCTGTC others(23): Show |
T | intron_variant | MODIFIER | NA19054.hp2 NA19055.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0088a0001c0002t0002g0104 | 2 | 190 | 0.0105 | -30 | c.313 others(47): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 3/26 | chr11 | TogoVar | ||||||
| ANO3_chr11_26327130_26668289 | 26564718 | CACACACA others(23): Show |
C | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0014 | a0001c0014t0006 | a0001c0014t0006g0126 | 1 | 190 | 0.0053 | -30 | c.144 others(49): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ANO3_chr11_26327130_26668289 | 26564732 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0159 | 1 | 190 | 0.0053 | -30 | c.144 others(49): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ANO4_chr12_100789776_101133629 | 100989728 | TGGGTGGA others(23): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01192.hp2 HG02004.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0077a0001c0001t0001g0166a0001c0003t0001g0191 | 3 | 236 | 0.0127 | -30 | c.734 others(47): Show |
ANO4 | ENSG00000151572.18 | transcript | ENST00000392977.8 | protein_coding | 8/27 | chr12 | TogoVar | ||||||
| ANO4_chr12_100789776_101133629 | 101104619 | GTATGTGT others(23): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG03195.hp1 HG04199.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0001 | a0001c0001t0001g0156a0001c0001t0001g0169a0001c0001t0001g0196others(2): Show | 5 | 236 | 0.0212 | -30 | c.214 others(49): Show |
ANO4 | ENSG00000151572.18 | transcript | ENST00000392977.8 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ANO5_chr11_22188085_22288357 | 22243275 | GGATGTAT others(23): Show |
G | intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 364 | 0.0028 | -30 | c.878 others(47): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 9/21 | chr11 | TogoVar | ||||||
| ANO7_chr2_241183677_241230976 | 241196838 | CGTGTGTG others(23): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 396 | 0.0025 | -30 | c.309 others(47): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ANO7_chr2_241183677_241230976 | 241205610 | ACAGGAGT others(23): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0058 | a0001c0058t0021 | a0001c0058t0021g0098 | 1 | 396 | 0.0025 | -30 | c.980 others(45): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ANO9_chr11_412938_447011 | 435658 | GGTCTAGT others(23): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 | 1 | 286 | 0.0035 | -30 | c.7-1 others(43): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 1/22 | chr11 | TogoVar | ||||||
| ANOS1_chrX_8523874_8737137 | 8594658 | GTATATAT others(23): Show |
G | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 231 | 0.0043 | -30 | c.541 others(47): Show |
ANOS1 | ENSG00000011201.12 | transcript | ENST00000262648.8 | protein_coding | 4/13 | chrX | TogoVar | ||||||
| ANOS1_chrX_8523874_8737137 | 8725639 | GATATATA others(23): Show |
G | intron_variant | MODIFIER | HG02965.hp1 NA18906.hp2 |
a0001a0008 | a0001c0001a0008c0006 | a0001c0001t0002a0008c0006t0006 | a0001c0001t0002g0218a0008c0006t0006g0219 | 2 | 231 | 0.0087 | -30 | c.207 others(47): Show |
ANOS1 | ENSG00000011201.12 | transcript | ENST00000262648.8 | protein_coding | 1/13 | chrX | TogoVar | ||||||
| ANP32A_chr15_68773535_68825895 | 68800678 | AGCTTGCA others(23): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(270): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(255): Show | 273 | 354 | 0.7712 | -30 | c.55- others(47): Show |
ANP32A | ENSG00000140350.15 | transcript | ENST00000465139.6 | protein_coding | 1/6 | chr15 | TogoVar | ||||||
| ANTXR2_chr4_79896146_80078229 | 79919863 | TTTTATAT others(23): Show |
T | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 268 | 0.0037 | -30 | c.142 others(51): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 16/16 | chr4 | TogoVar | ||||||
| ANTXR2_chr4_79896146_80078229 | 80015898 | AAGGAAAG others(23): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0103 | 1 | 268 | 0.0037 | -30 | c.945 others(47): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 11/16 | chr4 | TogoVar | ||||||
| ANTXR2_chr4_79896146_80078229 | 80015903 | AAGGAAAG others(23): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003a0001c0001t0003g0040 | 3 | 268 | 0.0112 | -30 | c.945 others(47): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 11/16 | chr4 | TogoVar | ||||||
| ANXA10_chr4_168087537_168192736 | 168153429 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 284 | 0.0035 | -30 | c.196 others(47): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ANXA10_chr4_168087537_168192736 | 168155915 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG03041.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0200a0002c0002t0001g0201 | 2 | 284 | 0.0070 | -30 | c.196 others(47): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ANXA4_chr2_69737134_69832112 | 69754434 | TTTATTTT others(23): Show |
T | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0027 | 1 | 346 | 0.0029 | -30 | c.-47 others(49): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ANXA4_chr2_69737134_69832112 | 69794493 | GTATGTTA others(23): Show |
G | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0304 | 1 | 346 | 0.0029 | -30 | c.97+ others(45): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AOPEP_chr9_94721699_95092159 | 94743190 | AGAAGAAG others(23): Show |
A | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 182 | 0.0055 | -30 | c.-13 others(51): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| AP1S3_chr2_223750326_223842582 | 223780290 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 340 | 0.0029 | -30 | c.4-2 others(43): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
| AP1S3_chr2_223750326_223842582 | 223780296 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0323 | 1 | 340 | 0.0029 | -30 | c.4-2 others(43): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
| AP3B1_chr5_77997326_78299698 | 78166117 | TCACACAC others(23): Show |
T | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0223 | 1 | 226 | 0.0044 | -30 | c.116 others(47): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | ||||||
| AP3B1_chr5_77997326_78299698 | 78189869 | CAAATAAA others(23): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG02809.hp2 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0007a0001c0004t0002g0185 | 2 | 226 | 0.0089 | -30 | c.787 others(47): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
| AP3B2_chr15_82654281_82714875 | 82665376 | AACACACA others(23): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01106.hp1 others(15): Show |
a0001a0005 | a0001c0001a0001c0019a0005c0018 | a0001c0001t0001a0001c0019t0001a0005c0018t0001 | a0001c0001t0001g0323a0001c0001t0001g0343a0001c0001t0001g0345others(15): Show | 18 | 368 | 0.0489 | -30 | c.197 others(45): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 16/26 | chr15 | TogoVar | ||||||
| AP3S2_chr15_89825599_89898994 | 89844241 | TTCTTTCT others(23): Show |
T | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 312 | 0.0032 | -30 | c.346 others(47): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
| AP3S2_chr15_89825599_89898994 | 89844245 | TTCTTTCT others(23): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01891.hp2 HG02451.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0036 | a0001c0001t0001g0019a0001c0001t0001g0021a0001c0001t0001g0022others(6): Show | 9 | 312 | 0.0289 | -30 | c.346 others(47): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
| AP3S2_chr15_89825599_89898994 | 89858509 | GAGAGAGA others(23): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0161a0001c0001t0002g0157 | 2 | 312 | 0.0064 | -30 | c.345 others(49): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
| APBA1_chr9_69422532_69677371 | 69523506 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01123.hp2 HG01175.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0050a0001c0001t0001g0099others(12): Show | 15 | 210 | 0.0714 | -30 | c.-69 others(47): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar |