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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP3B1_chr5_77997326_78299698 | 78191354 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01258.hp1 HG01346.hp1 others(29): Show |
a0001a0002a0005 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0032 others(29): Show |
32 | 128 | 0.2500 | -9 | c.787 others(26): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78277928 | TCATATTT others(2): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(26): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0004t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(26): Show |
29 | 224 | 0.1295 | -9 | c.129 others(28): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2140755 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00558.hp2 others(35): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0020others(1): Show | a0001c0001t0001a0001c0004t0002a0001c0004t0014others(2): Show | a0001c0001t0001g0244 a0001c0004t0002g0052 a0001c0004t0002g0207 others(35): Show |
38 | 215 | 0.1767 | -9 | c.97- others(24): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2141528 | GTTCAAGT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(206): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(22): Show | a0001c0001t0001g0050 a0001c0001t0001g0131 a0001c0001t0001g0203 others(202): Show |
209 | 404 | 0.5173 | -9 | c.97- others(24): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74149267 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0138 others(30): Show |
42 | 85 | 0.4941 | -9 | c.-4+ others(24): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
AP3S1_chr5_115836935_115919081 | 115892142 | ATTTGCAA others(2): Show |
A | intron_variant | MODIFIER | NA18991.hp1 NA18995.hp1 NA19011.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0076 a0001c0001t0001g0134 others(1): Show |
5 | 376 | 0.0133 | -9 | c.274 others(26): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP3S2_chr15_89825599_89898994 | 89889443 | CAAAGTCA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00558.hp1 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0027 others(50): Show |
55 | 310 | 0.1774 | -9 | c.70- others(22): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50962889 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02615.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0187 a0002c0003t0006g0188 a0002c0003t0006g0189 others(3): Show |
6 | 140 | 0.0429 | -9 | c.185 others(28): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 51008019 | TTTTTTTT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(102): Show |
a0001a0002a0003 | a0001c0010a0002c0002a0002c0003others(1): Show | a0001c0010t0002a0002c0002t0002a0002c0002t0012others(9): Show | a0001c0010t0002g0355 a0002c0002t0002g0009 a0002c0002t0002g0010 others(102): Show |
105 | 390 | 0.2692 | -9 | c.*53 others(20): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 2125 | chr15 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 51009136 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00609.hp1 others(99): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0003a0002c0003t0003a0002c0003t0006others(8): Show | a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0310 others(98): Show |
102 | 251 | 0.4064 | -9 | c.*64 others(20): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 3242 | chr15 | TogoVar | |||||||
AP4S1_chr14_31020649_31101450 | 31027535 | ACCTGTAG others(2): Show |
A | intron_variant | MODIFIER | HG02074.hp2 NA18971.hp2 NA18989.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0013 | a0001c0001t0001g0270 a0001c0001t0010g0271 a0001c0001t0010g0272 others(4): Show |
7 | 344 | 0.0203 | -9 | c.-72 others(26): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31049427 | AAATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01346.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 others(3): Show |
6 | 342 | 0.0175 | -9 | c.-71 others(28): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31049429 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG01069.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0132 a0001c0001t0001g0337 others(16): Show |
19 | 325 | 0.0585 | -9 | c.-71 others(28): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
AP5M1_chr14_57263971_57303742 | 57275438 | AAGAGAGA others(2): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG01952.hp2 others(5): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0061 others(1): Show |
8 | 278 | 0.0288 | -9 | c.720 others(24): Show |
AP5M1 | ENSG00000053770.12 | transcript | ENST00000261558.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653656 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01168.hp2 others(7): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0007a0006c0009others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(4): Show | a0001c0001t0003g0165 a0001c0001t0004g0183 a0001c0001t0004g0184 others(7): Show |
10 | 238 | 0.0420 | -9 | c.526 others(26): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69515696 | GGGGGGGG others(2): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG01346.hp1 others(12): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0016 | a0002c0002t0001g0100 a0002c0002t0003g0131 a0002c0002t0003g0139 others(12): Show |
15 | 208 | 0.0721 | -9 | c.120 others(26): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 2/12 | chr9 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 28915008 | TCACACAC others(2): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02647.hp2 |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0008 | a0002c0002t0007g0002 a0002c0002t0008g0125 |
2 | 202 | 0.0099 | -9 | c.-20 others(28): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29013273 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02717.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0008a0002c0002t0006a0002c0002t0008others(2): Show | a0001c0001t0008g0163 a0002c0002t0006g0118 a0002c0002t0006g0178 others(4): Show |
7 | 79 | 0.0886 | -9 | c.-41 others(28): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29023441 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(123): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 others(123): Show |
126 | 147 | 0.8571 | -9 | c.-41 others(28): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA3_chr19_3745772_3766692 | 3749069 | ACCACGCT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02976.hp1 HG03453.hp2 others(2): Show |
a0002a0012 | a0002c0001a0012c0015 | a0002c0001t0001a0002c0001t0002a0012c0015t0001 | a0002c0001t0001g0053 a0002c0001t0002g0107 a0012c0015t0001g0163 others(1): Show |
5 | 448 | 0.0112 | -9 | c.*19 others(20): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 1702 | chr19 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40838136 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01192.hp2 others(11): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0006a0001c0002t0007a0001c0002t0034others(8): Show | a0001c0002t0006g0058 a0001c0002t0007g0171 a0001c0002t0007g0172 others(11): Show |
14 | 76 | 0.1842 | -9 | c.153 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40843441 | TTTTTATA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(116): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(61): Show | a0001c0002t0001g0039 a0001c0002t0001g0060 a0001c0002t0001g0070 others(116): Show |
119 | 190 | 0.6263 | -9 | c.153 others(30): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40928419 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01258.hp2 HG01516.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0007a0001c0003t0003a0001c0004t0006others(2): Show | a0001c0002t0007g0171 a0001c0002t0007g0172 a0001c0003t0003g0138 others(3): Show |
6 | 190 | 0.0316 | -9 | c.125 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40982213 | AAAAGAAA others(2): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01346.hp2 HG01516.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0006a0002c0001t0003a0002c0001t0007others(1): Show | a0001c0003t0006g0134 a0002c0001t0003g0049 a0002c0001t0007g0087 others(1): Show |
4 | 190 | 0.0211 | -9 | c.835 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40982383 | GAAGGAAG others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG03209.hp1 HG03490.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0001c0002t0010a0001c0002t0017others(2): Show | a0001c0002t0002g0104 a0001c0002t0010g0006 a0001c0002t0017g0120 others(3): Show |
6 | 183 | 0.0328 | -9 | c.835 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41025963 | AGAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG02622.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0004a0001c0004t0005a0001c0004t0006others(1): Show | a0001c0004t0004g0144 a0001c0004t0005g0163 a0001c0004t0006g0160 others(1): Show |
4 | 190 | 0.0211 | -9 | c.19+ others(24): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 5/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41083686 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02486.hp1 others(14): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0005 | a0001c0002t0003a0002c0001t0001a0002c0001t0016others(10): Show | a0001c0002t0003g0033 a0001c0002t0003g0034 a0002c0001t0001g0065 others(14): Show |
17 | 25 | 0.6800 | -9 | c.-14 others(30): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41159943 | GAGAAGGA others(2): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG01175.hp2 HG01981.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0002a0001c0003t0001a0001c0004t0004others(2): Show | a0001c0002t0002g0119 a0001c0003t0001g0185 a0001c0004t0004g0130 others(2): Show |
5 | 174 | 0.0287 | -9 | c.-41 others(30): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41159961 | GAGAAGAA others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG02818.hp1 HG02886.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0010a0002c0001t0006a0002c0001t0008others(1): Show | a0001c0002t0010g0006 a0002c0001t0006g0115 a0002c0001t0008g0042 others(1): Show |
4 | 69 | 0.0580 | -9 | c.-41 others(30): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
APBB3_chr5_140553268_140569598 | 140557513 | CCAGTTGA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02738.hp1 HG03490.hp2 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 410 | 0.0098 | -9 | c.*10 others(20): Show |
APBB3 | ENSG00000113108.20 | transcript | ENST00000357560.9 | protein_coding | 754 | chr5 | TogoVar | |||||||
APC_chr5_112732885_112851239 | 112745548 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG03704.hp1 HG03927.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0002t0003g0179 |
3 | 176 | 0.0170 | -9 | c.-19 others(26): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
APC_chr5_112732885_112851239 | 112836009 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01975.hp2 HG02071.hp2 others(11): Show |
a0001a0009 | a0001c0001a0009c0018 | a0001c0001t0001a0009c0018t0001 | a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 others(11): Show |
14 | 88 | 0.1591 | -9 | c.195 others(26): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
APEX1_chr14_20450226_20462767 | 20458109 | GACTGAGG others(2): Show |
G | downstream_gene_variant | MODIFIER | NA18954.hp1 NA19003.hp2 NA19064.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 468 | 0.0085 | -9 | c.*60 others(18): Show |
APEX1 | ENSG00000100823.12 | transcript | ENST00000216714.8 | protein_coding | 343 | chr14 | TogoVar | |||||||
APIP_chr11_34877295_34921379 | 34915001 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01106.hp1 HG01168.hp1 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0008 | a0001c0001t0003g0010 a0001c0001t0003g0018 a0001c0001t0003g0034 others(37): Show |
75 | 149 | 0.5034 | -9 | c.57+ others(24): Show |
APIP | ENSG00000149089.13 | transcript | ENST00000395787.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
APLP2_chr11_130064894_130149805 | 130067080 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00621.hp1 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0051 a0001c0001t0001g0057 others(47): Show |
55 | 96 | 0.5729 | -9 | c.-28 others(20): Show |
APLP2 | ENSG00000084234.18 | transcript | ENST00000338167.10 | protein_coding | 2813 | chr11 | TogoVar | |||||||
APOA1_chr11_116830751_116842622 | 116831248 | TCTTTCTT others(2): Show |
T | downstream_gene_variant | MODIFIER | NA18945.hp2 NA18949.hp2 NA19062.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 3 | 446 | 0.0067 | -9 | c.*45 others(20): Show |
APOA1 | ENSG00000118137.10 | transcript | ENST00000236850.5 | protein_coding | 4502 | chr11 | TogoVar | |||||||
APOA2_chr1_161217292_161228628 | 161225919 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | NA18963.hp1 NA18965.hp1 NA18969.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 8 | 54 | 0.1481 | -9 | c.-23 others(20): Show |
APOA2 | ENSG00000158874.11 | transcript | ENST00000367990.7 | protein_coding | 2292 | chr1 | TogoVar | |||||||
APOBEC1_chr12_7644400_7670908 | 7659294 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp2 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0001 | a0001c0002t0001g0330 a0001c0003t0001g0337 a0001c0003t0001g0356 others(5): Show |
8 | 314 | 0.0255 | -9 | c.17- others(24): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
APOBEC3H_chr22_39092244_39109067 | 39093582 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00642.hp2 others(32): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0003c0003t0002g0003 others(10): Show |
35 | 141 | 0.2482 | -9 | c.-37 others(20): Show |
APOBEC3H | ENSG00000100298.16 | transcript | ENST00000442487.8 | protein_coding | 3661 | chr22 | TogoVar | |||||||
APOBEC3H_chr22_39092244_39109067 | 39102962 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG04204.hp1 NA18967.hp2 others(3): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0002a0003c0003t0003a0004c0004t0002 | a0003c0003t0002g0038 a0003c0003t0002g0039 a0003c0003t0003g0087 others(1): Show |
6 | 150 | 0.0400 | -9 | c.544 others(24): Show |
APOBEC3H | ENSG00000100298.16 | transcript | ENST00000442487.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
APOBEC4_chr1_183641275_183658316 | 183643261 | TTTTTATT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01123.hp1 HG02280.hp1 HG02559.hp2 others(5): Show |
a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0006 | 8 | 350 | 0.0229 | -9 | c.*44 others(20): Show |
APOBEC4 | ENSG00000173627.8 | transcript | ENST00000308641.6 | protein_coding | 3013 | chr1 | TogoVar | |||||||
APOB_chr2_20996429_21049073 | 20996454 | GCCCAAGC others(2): Show |
G | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02559.hp1 others(4): Show |
a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0017 a0011c0011t0001g0046 a0011c0011t0001g0047 |
7 | 348 | 0.0201 | -9 | c.*52 others(20): Show |
APOB | ENSG00000084674.15 | transcript | ENST00000233242.5 | protein_coding | 4974 | chr2 | TogoVar | |||||||
APOB_chr2_20996429_21049073 | 21043902 | GGCAGCGC others(2): Show |
G | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00323.hp2 HG00733.hp1 others(81): Show |
a0002a0007a0009others(2): Show | a0002c0002a0002c0012a0002c0016others(30): Show | a0002c0002t0001a0002c0012t0001a0002c0012t0003others(31): Show | a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0013 others(56): Show |
84 | 348 | 0.2414 | -9 | c.35_ others(14): Show |
p.Leu others(11): Show |
APOB | ENSG00000084674.15 | transcript | ENST00000233242.5 | protein_coding | 1/29 | 171/14121 | 35/13692 | 12/4563 | chr2 | TogoVar | |||
APOH_chr17_66207033_66234415 | 66224627 | AGAAAGGA others(2): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG02723.hp1 HG02886.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0103 a0002c0002t0001g0106 a0002c0002t0001g0107 others(4): Show |
7 | 384 | 0.0182 | -9 | c.339 others(24): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
APOL3_chr22_36135329_36165755 | 36157887 | TAAAAATA others(2): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp1 HG02970.hp2 others(3): Show |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0005a0001c0003t0007a0002c0005t0005 | a0001c0003t0005g0046 a0001c0003t0005g0190 a0001c0003t0007g0194 others(2): Show |
6 | 364 | 0.0165 | -9 | c.-88 others(26): Show |
APOL3 | ENSG00000128284.20 | transcript | ENST00000424878.4 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
APOOL_chrX_84998877_85098315 | 85028740 | ATTCAATG others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(135): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(133): Show |
138 | 254 | 0.5433 | -9 | c.16- others(26): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
APPBP2_chr17_60438158_60531242 | 60524610 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0011others(9): Show | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(23): Show |
26 | 78 | 0.3333 | -9 | c.138 others(26): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
APPL1_chr3_57222729_57278471 | 57240798 | ACACTTAT others(2): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0010 | 3 | 264 | 0.0114 | -9 | c.373 others(24): Show |
APPL1 | ENSG00000157500.12 | transcript | ENST00000288266.8 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AQP11_chr11_77584953_77615356 | 77601344 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00558.hp2 others(48): Show |
a0001a0004a0006 | a0001c0001a0004c0006a0006c0007 | a0001c0001t0001a0004c0006t0001a0006c0007t0001 | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0025 others(14): Show |
51 | 314 | 0.1624 | -9 | c.620 others(26): Show |
AQP11 | ENSG00000178301.4 | transcript | ENST00000313578.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AQR_chr15_34846782_34974742 | 34908984 | TAGATGAG others(2): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02451.hp1 others(5): Show |
a0001 | a0001c0008a0001c0011 | a0001c0008t0018a0001c0008t0043a0001c0008t0047others(4): Show | a0001c0008t0018g0177 a0001c0008t0018g0178 a0001c0008t0043g0176 others(5): Show |
8 | 310 | 0.0258 | -9 | c.166 others(28): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 17/34 | chr15 | TogoVar |