view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP5S1_chr20_3815547_3833838 | 3832256 | A | AAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0002 | 1 | 407 | 0.0025 | 12 | c.*79 others(23): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3419 | chr20 | TogoVar | |||||||
AP5Z1_chr7_4770623_4799397 | 4777353 | C | CTTTATTT others(5): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02809.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0003a0001c0006t0003 | a0001c0002t0003g0073 a0001c0006t0003g0074 |
2 | 232 | 0.0086 | 12 | c.41+ others(27): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98644930 | C | CCCACAGC others(5): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(82): Show |
a0001a0007a0009 | a0001c0001a0001c0013a0007c0011others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0003g0007 a0001c0001t0003g0119 a0001c0001t0003g0124 others(80): Show |
85 | 364 | 0.2335 | 12 | c.-94 others(21): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 359 | chr12 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98653685 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0068 | 1 | 339 | 0.0029 | 12 | c.526 others(29): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653689 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01496.hp2 HG02145.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0087 a0001c0001t0001g0246 others(1): Show |
4 | 246 | 0.0163 | 12 | c.526 others(29): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653691 | A | AAAAAATA others(5): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 119 | 0.0084 | 12 | c.526 others(29): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653691 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 119 | 0.0084 | 12 | c.526 others(29): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98665255 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0207 | 1 | 185 | 0.0054 | 12 | c.956 others(27): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98665278 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0342 | 1 | 214 | 0.0047 | 12 | c.956 others(27): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98707692 | C | CTATATAT others(5): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0302 | 1 | 151 | 0.0066 | 12 | c.272 others(29): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98715235 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0123 | 1 | 73 | 0.0137 | 12 | c.295 others(29): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98715281 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG03239.hp2 HG04199.hp2 others(6): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0001t0006a0001c0001t0021others(1): Show | a0001c0001t0002g0301 a0001c0001t0002g0314 a0001c0001t0002g0316 others(6): Show |
9 | 328 | 0.0274 | 12 | c.295 others(29): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 21/26 | chr12 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69436352 | C | CTATAAAT others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02970.hp1 HG03098.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0028a0001c0006t0029a0002c0002t0017others(1): Show | a0001c0001t0028g0137 a0001c0006t0029g0082 a0002c0002t0017g0205 others(2): Show |
5 | 208 | 0.0240 | 12 | c.230 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 11/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69523477 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0156 | 1 | 151 | 0.0066 | 12 | c.-69 others(29): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69523489 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 205 | 0.0049 | 12 | c.-69 others(29): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69523511 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0208 | 1 | 208 | 0.0048 | 12 | c.-69 others(29): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69540122 | G | GCAACAAC others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG01074.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0059 others(28): Show |
31 | 109 | 0.2844 | 12 | c.-69 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69600806 | T | TAATAAAT others(5): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0043 | 1 | 174 | 0.0057 | 12 | c.-70 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69636890 | A | AGAAGGAA others(5): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01515.hp1 HG02109.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0002g0036 a0001c0001t0002g0081 a0001c0001t0002g0105 others(5): Show |
8 | 71 | 0.1127 | 12 | c.-70 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69636918 | G | GGAAAGAA others(5): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0017 | 1 | 193 | 0.0052 | 12 | c.-70 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69636922 | G | GGAAAGAA others(5): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02723.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0019 | a0001c0001t0012g0144 a0002c0002t0019g0049 |
2 | 114 | 0.0175 | 12 | c.-70 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69636922 | G | GGAAGGAA others(5): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03130.hp1 NA18966.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0058 a0001c0001t0001g0188 a0001c0001t0002g0094 others(2): Show |
5 | 117 | 0.0427 | 12 | c.-70 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69636922 | G | GGAAGGAA others(5): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0076 a0001c0001t0006g0204 |
2 | 114 | 0.0175 | 12 | c.-70 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69658300 | C | CTCTTTCT others(5): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0189 | 1 | 160 | 0.0063 | 12 | c.-70 others(31): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 28897182 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0163 | 1 | 69 | 0.0145 | 12 | c.-20 others(33): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28901908 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02129.hp1 HG02818.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0030 a0001c0001t0002g0149 a0001c0001t0003g0168 others(9): Show |
12 | 19 | 0.6316 | 12 | c.-20 others(33): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28969126 | C | CTCTTTCT others(5): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 192 | 0.0052 | 12 | c.-94 others(31): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28969128 | T | TTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03491.hp2 HG03710.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0039 a0001c0001t0003g0131 a0001c0001t0004g0079 others(2): Show |
5 | 14 | 0.3571 | 12 | c.-94 others(31): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29045069 | T | TTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01981.hp1 HG02293.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0155 a0001c0001t0003g0164 a0001c0001t0004g0015 others(8): Show |
11 | 146 | 0.0753 | 12 | c.-40 others(29): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29045079 | C | CTCTCTCT others(5): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0003 | 1 | 202 | 0.0050 | 12 | c.-40 others(29): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29045103 | C | CTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01981.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0002g0116 others(7): Show |
10 | 93 | 0.1075 | 12 | c.-40 others(29): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | chr15 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 29052454 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01358.hp2 others(34): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0002g0144 others(34): Show |
37 | 112 | 0.3304 | 12 | c.-40 others(29): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29052454 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0086 | 1 | 76 | 0.0132 | 12 | c.-40 others(29): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29052454 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03540.hp1 |
a0002 | a0002c0004a0002c0016 | a0002c0004t0022a0002c0016t0036 | a0002c0004t0022g0080 a0002c0016t0036g0001 |
2 | 77 | 0.0260 | 12 | c.-40 others(29): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29055668 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02602.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0029a0001c0001t0031 | a0001c0001t0003g0159 a0001c0001t0029g0046 a0001c0001t0031g0055 |
3 | 76 | 0.0395 | 12 | c.951 others(27): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26443532 | C | CTTTATTT others(5): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01884.hp1 HG01891.hp2 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0006a0004c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0002c0006t0002others(2): Show | a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0002g0313 others(10): Show |
13 | 213 | 0.0610 | 12 | c.-1+ others(27): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26446895 | G | GAGATAGA others(5): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG01168.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 others(3): Show |
6 | 206 | 0.0291 | 12 | c.-1+ others(27): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26472569 | T | TTTCATTC others(5): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG01109.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0029 others(12): Show |
15 | 107 | 0.1402 | 12 | c.1-1 others(27): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26510734 | T | TCACACAC others(5): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 180 | 0.0056 | 12 | c.532 others(27): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26510734 | T | TCTCTCTC others(5): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00735.hp1 HG01891.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 others(21): Show |
24 | 203 | 0.1182 | 12 | c.532 others(29): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26516543 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 26 | 0.0385 | 12 | c.813 others(29): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26524974 | T | TTTTTTTT others(5): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 270 | 0.0037 | 12 | c.814 others(29): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 8/14 | chr10 | TogoVar | |||||||
APBB1IP_chr10_26433341_26572803 | 26567308 | G | GCCCGCGC others(5): Show |
disruptive_inframe_insertion | MODERATE | HG02809.hp1 | a0010 | a0010c0010 | a0010c0010t0002 | a0010c0010t0002g0347 | 1 | 356 | 0.0028 | 12 | c.182 others(21): Show |
p.Ala others(13): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 15/15 | 2155/2633 | 1838/2001 | 613/666 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
APBB1_chr11_6390125_6424094 | 6390700 | C | CCTGGCGC others(5): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0235 |
2 | 385 | 0.0052 | 12 | c.*48 others(23): Show |
APBB1 | ENSG00000166313.20 | transcript | ENST00000609360.6 | protein_coding | 4424 | chr11 | TogoVar | |||||||
APBB1_chr11_6390125_6424094 | 6421657 | C | CAAATAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 HG02976.hp1 NA19030.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0286 others(1): Show |
4 | 401 | 0.0100 | 12 | c.-26 others(23): Show |
APBB1 | ENSG00000166313.20 | transcript | ENST00000609360.6 | protein_coding | 2564 | chr11 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40811520 | C | CCAGCCTA others(5): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(153): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(79): Show | a0001c0002t0001g0039 a0001c0002t0001g0060 a0001c0002t0001g0070 others(153): Show |
156 | 190 | 0.8211 | 12 | c.*45 others(23): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 18/18 | 4571 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40832011 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0028 | 1 | 183 | 0.0055 | 12 | c.153 others(31): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40832013 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02486.hp1 HG02717.hp1 others(4): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0004a0001c0003t0058a0002c0001t0004others(4): Show | a0001c0002t0004g0108 a0001c0003t0058g0089 a0002c0001t0004g0191 others(4): Show |
7 | 72 | 0.0972 | 12 | c.153 others(31): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40832013 | T | TATACACA others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01069.hp2 others(10): Show |
a0001a0002a0003 | a0001c0003a0001c0004a0002c0001others(1): Show | a0001c0003t0011a0001c0003t0013a0001c0003t0030others(4): Show | a0001c0003t0011g0016 a0001c0003t0013g0024 a0001c0003t0030g0021 others(10): Show |
13 | 78 | 0.1667 | 12 | c.153 others(31): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40832013 | T | TATATACA others(5): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0001 | a0002c0001t0031 | a0002c0001t0031g0017 | 1 | 66 | 0.0152 | 12 | c.153 others(31): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar |