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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP2B1_chr17_35582322_35731413 | 35583115 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0020others(2): Show | a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0135 others(11): Show |
14 | 71 | 0.1972 | -5 | c.-43 others(16): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 4206 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35592125 | TTTTTC | T | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(63): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0006a0001c0001t0018others(2): Show | a0001c0001t0002g0001 a0001c0001t0002g0055 a0001c0001t0002g0065 others(62): Show |
66 | 370 | 0.1784 | -5 | c.-23 others(22): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35635377 | CTTTGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00673.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0016a0001c0002t0001 | a0001c0001t0004g0316 a0001c0001t0004g0319 a0001c0001t0004g0320 others(29): Show |
32 | 370 | 0.0865 | -5 | c.115 others(22): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35703302 | CACTCG | C | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01106.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0007a0001c0004t0002 | a0001c0001t0007g0006 a0001c0001t0007g0007 a0001c0001t0007g0156 others(13): Show |
16 | 370 | 0.0432 | -5 | c.245 others(24): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2M1_chr3_184169855_184189091 | 184174585 | GAAAAA | G | upstream_gene_variant | MODIFIER | HG01517.hp2 HG02258.hp2 HG02486.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0035 others(9): Show |
24 | 99 | 0.2424 | -5 | c.-41 others(14): Show |
AP2M1 | ENSG00000161203.14 | transcript | ENST00000292807.9 | protein_coding | 269 | chr3 | TogoVar | |||||||
AP2M1_chr3_184169855_184189091 | 184179653 | ATTTCT | A | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG03195.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0016 | 6 | 420 | 0.0143 | -5 | c.341 others(20): Show |
AP2M1 | ENSG00000161203.14 | transcript | ENST00000292807.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AP2M1_chr3_184169855_184189091 | 184187217 | AGTTTT | A | downstream_gene_variant | MODIFIER | HG00639.hp2 NA18955.hp2 NA18967.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
6 | 405 | 0.0148 | -5 | c.*36 others(16): Show |
AP2M1 | ENSG00000161203.14 | transcript | ENST00000292807.9 | protein_coding | 3127 | chr3 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46833427 | AAAGAG | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(142): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(98): Show |
145 | 327 | 0.4434 | -5 | c.*50 others(16): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4739 | chr19 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46833450 | GAGAAA | G | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01192.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0223 a0001c0001t0001g0269 |
3 | 422 | 0.0071 | -5 | c.*49 others(16): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4716 | chr19 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46845438 | TAATTC | T | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG01433.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0039 others(35): Show |
44 | 422 | 0.1043 | -5 | c.153 others(20): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46852029 | GTTAGT | G | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02572.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0002g0032 others(2): Show |
6 | 422 | 0.0142 | -5 | c.-12 others(16): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 1184 | chr19 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78023439 | CAAGAA | C | intron_variant | MODIFIER | HG03834.hp1 HG04199.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0010 a0002c0003t0001g0070 |
2 | 135 | 0.0148 | -5 | c.289 others(24): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78052189 | ATATTT | A | intron_variant | MODIFIER | NA18998.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 a0001c0001t0002g0027 |
2 | 224 | 0.0089 | -5 | c.257 others(26): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78090867 | AGCGGT | A | intron_variant | MODIFIER | HG02258.hp2 HG02615.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0005 a0001c0004t0002g0001 a0001c0004t0002g0002 others(2): Show |
5 | 224 | 0.0223 | -5 | c.247 others(24): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 21/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78133661 | TAATTA | T | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 |
a0003 | a0003c0009 | a0003c0009t0002 | a0003c0009t0002g0066 a0003c0009t0002g0078 |
2 | 224 | 0.0089 | -5 | c.165 others(24): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78169733 | GTTTAT | G | intron_variant | MODIFIER | HG02630.hp1 HG02723.hp2 HG02818.hp1 others(5): Show |
a0001a0003 | a0001c0004a0001c0012a0003c0007 | a0001c0004t0001a0001c0012t0001a0003c0007t0002 | a0001c0004t0001g0077 a0001c0012t0001g0142 a0003c0007t0002g0052 others(5): Show |
8 | 122 | 0.0656 | -5 | c.116 others(24): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78189869 | CAAATA | C | intron_variant | MODIFIER | HG00741.hp1 HG01256.hp2 HG01258.hp2 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0002others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0037 others(26): Show |
29 | 99 | 0.2929 | -5 | c.787 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78266221 | TAACTA | T | intron_variant | MODIFIER | HG03139.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0003c0008t0002 | a0001c0001t0001g0037 a0003c0008t0002g0035 a0003c0008t0002g0036 others(1): Show |
4 | 224 | 0.0179 | -5 | c.204 others(22): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74126970 | CAAAAA | C | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02717.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0014 a0001c0001t0006g0015 a0001c0001t0006g0016 others(2): Show |
8 | 84 | 0.0952 | -5 | c.804 others(20): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 6/8 | chr10 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74128121 | AAAAGG | A | intron_variant | MODIFIER | HG00597.hp1 HG01496.hp1 HG02109.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0223 a0001c0001t0003g0227 a0001c0001t0003g0230 others(5): Show |
8 | 332 | 0.0241 | -5 | c.803 others(20): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 6/8 | chr10 | TogoVar | |||||||
AP3S1_chr5_115836935_115919081 | 115845836 | CAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG01071.hp2 HG01175.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0219 others(26): Show |
29 | 97 | 0.2990 | -5 | c.69+ others(20): Show |
AP3S1 | ENSG00000177879.17 | transcript | ENST00000316788.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP4B1_chr1_113889194_113909799 | 113897591 | GCAAAA | G | intron_variant | MODIFIER | HG00621.hp1 HG01109.hp1 HG01168.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007 | a0002c0002t0002g0016 a0002c0002t0002g0038 a0002c0002t0007g0039 |
7 | 432 | 0.0162 | -5 | c.130 others(22): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 7/9 | chr1 | TogoVar | |||||||
AP4B1_chr1_113889194_113909799 | 113906046 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(168): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0008others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(26): Show |
171 | 213 | 0.8028 | -5 | c.-13 others(16): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 1248 | chr1 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50912657 | ATTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(142): Show |
a0001a0004a0009others(1): Show | a0001c0001a0001c0010a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0195 others(140): Show |
145 | 361 | 0.4017 | -5 | c.222 others(20): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50999703 | CTTTTT | C | intron_variant | MODIFIER | HG01257.hp2 HG03834.hp1 HG03942.hp2 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0019a0004c0005t0001 | a0001c0001t0001g0222 a0001c0001t0001g0236 a0001c0001t0001g0265 others(7): Show |
10 | 390 | 0.0256 | -5 | c.309 others(22): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31032071 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG01168.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0212 others(21): Show |
24 | 168 | 0.1429 | -5 | c.-72 others(22): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31053589 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 others(4): Show |
7 | 80 | 0.0875 | -5 | c.-71 others(24): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP5B1_chr11_65768898_65785976 | 65769257 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(74): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0008a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0012others(11): Show | a0001c0001t0001g0001 a0001c0001t0009g0009 a0001c0001t0012g0014 others(11): Show |
77 | 136 | 0.5662 | -5 | c.*85 others(16): Show |
AP5B1 | ENSG00000254470.3 | transcript | ENST00000532090.3 | protein_coding | 4640 | chr11 | TogoVar | |||||||
AP5B1_chr11_65768898_65785976 | 65773544 | CTGTAA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp1 others(67): Show |
a0002a0005a0009others(1): Show | a0002c0003a0002c0007a0002c0025others(4): Show | a0002c0003t0002a0002c0003t0039a0002c0007t0002others(5): Show | a0002c0003t0002g0002 a0002c0003t0039g0062 a0002c0007t0002g0006 others(5): Show |
70 | 422 | 0.1659 | -5 | c.*43 others(16): Show |
AP5B1 | ENSG00000254470.3 | transcript | ENST00000532090.3 | protein_coding | 353 | chr11 | TogoVar | |||||||
AP5Z1_chr7_4770623_4799397 | 4778785 | TATATA | T | intron_variant | MODIFIER | HG01891.hp2 HG02886.hp2 HG03041.hp1 |
a0006 | a0006c0008 | a0006c0008t0013 | a0006c0008t0013g0032 a0006c0008t0013g0086 |
3 | 338 | 0.0089 | -5 | c.42- others(20): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4778817 | GTTATA | G | intron_variant | MODIFIER | HG02922.hp1 HG03225.hp2 HG03471.hp1 |
a0010a0019 | a0010c0013a0019c0029 | a0010c0013t0021a0010c0013t0045a0019c0029t0020 | a0010c0013t0021g0029 a0010c0013t0045g0029 a0019c0029t0020g0076 |
3 | 338 | 0.0089 | -5 | c.42- others(20): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP5Z1_chr7_4770623_4799397 | 4791596 | ACTGAG | A | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02886.hp2 HG03041.hp1 |
a0006 | a0006c0008 | a0006c0008t0013 | a0006c0008t0013g0032 a0006c0008t0013g0086 |
3 | 338 | 0.0089 | -5 | c.*22 others(14): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 17/17 | 222 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AP5Z1_chr7_4770623_4799397 | 4795907 | CTTTCT | C | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01081.hp2 others(9): Show |
a0001a0004a0014 | a0001c0001a0001c0005a0004c0007others(1): Show | a0001c0001t0002a0001c0001t0049a0001c0005t0009others(2): Show | a0001c0001t0002g0099 a0001c0001t0049g0082 a0001c0005t0009g0030 others(6): Show |
12 | 337 | 0.0356 | -5 | c.*45 others(16): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 1511 | chr7 | TogoVar | |||||||
AP5Z1_chr7_4770623_4799397 | 4798005 | TAATAA | T | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01243.hp2 others(18): Show |
a0003a0005a0009 | a0003c0004a0005c0011a0005c0018others(1): Show | a0003c0004t0004a0003c0004t0007a0005c0011t0007others(2): Show | a0003c0004t0004g0003 a0003c0004t0004g0054 a0003c0004t0004g0066 others(6): Show |
21 | 338 | 0.0621 | -5 | c.*66 others(16): Show |
AP5Z1 | ENSG00000242802.9 | transcript | ENST00000649063.2 | protein_coding | 3609 | chr7 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98640441 | TCAAAA | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(121): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0097 others(119): Show |
124 | 300 | 0.4133 | -5 | c.-54 others(16): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4848 | chr12 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98653656 | CAAAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG02071.hp2 HG02257.hp1 others(16): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0003g0119 a0001c0001t0003g0133 a0001c0001t0003g0134 others(15): Show |
19 | 247 | 0.0769 | -5 | c.526 others(22): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98659770 | AAAGAG | A | intron_variant | MODIFIER | HG00735.hp1 HG02257.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0022a0001c0002t0023 | a0001c0001t0008g0003 a0001c0001t0008g0298 a0001c0001t0008g0300 others(2): Show |
6 | 364 | 0.0165 | -5 | c.710 others(20): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98665274 | ATATAT | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(41): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0001t0006a0001c0001t0021others(1): Show | a0001c0001t0002g0199 a0001c0001t0002g0301 a0001c0001t0002g0311 others(41): Show |
44 | 361 | 0.1219 | -5 | c.956 others(20): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98692011 | ACCATG | A | intron_variant | MODIFIER | HG00140.hp2 HG01099.hp1 HG01109.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0020 | a0001c0001t0019g0205 a0001c0001t0019g0206 a0001c0001t0020g0338 others(1): Show |
4 | 364 | 0.0110 | -5 | c.230 others(24): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
APBA1_chr9_69422532_69677371 | 69515690 | TGGGGG | T | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG01071.hp1 others(63): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0040 others(63): Show |
66 | 123 | 0.5366 | -5 | c.120 others(22): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 2/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69635281 | TGTTAA | T | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp1 HG02895.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0017 | a0002c0002t0001g0011 a0002c0002t0003g0012 a0002c0002t0003g0013 others(3): Show |
6 | 208 | 0.0288 | -5 | c.-70 others(24): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 28882767 | AGAAGT | A | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02258.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0014 | a0001c0001t0002a0001c0001t0008a0002c0002t0003others(2): Show | a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0190 others(4): Show |
7 | 202 | 0.0347 | -5 | c.-37 others(16): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3206 | chr15 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 28896271 | TTCTTC | T | intron_variant | MODIFIER | HG02615.hp1 HG03041.hp1 HG03540.hp1 others(1): Show |
a0002 | a0002c0002a0002c0016 | a0002c0002t0006a0002c0002t0007a0002c0016t0036 | a0002c0002t0006g0003 a0002c0002t0007g0002 a0002c0002t0007g0004 others(1): Show |
4 | 201 | 0.0199 | -5 | c.-20 others(26): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28955748 | CTCCCA | C | intron_variant | MODIFIER | HG00738.hp2 HG01071.hp2 HG01167.hp1 others(55): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0051 others(55): Show |
58 | 202 | 0.2871 | -5 | c.-95 others(24): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | chr15 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 28977124 | ATTAGT | A | intron_variant | MODIFIER | HG01081.hp2 HG01496.hp2 HG01884.hp2 others(14): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0002g0006 a0001c0001t0003g0104 a0001c0001t0006g0160 others(14): Show |
17 | 202 | 0.0842 | -5 | c.-94 others(24): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29025486 | CTCGAT | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(159): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0009others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(159): Show |
162 | 202 | 0.8020 | -5 | c.-40 others(24): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 29119769 | TGAAGA | T | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01167.hp1 HG01884.hp1 others(27): Show |
a0001a0002a0004 | a0001c0001a0001c0009a0002c0002others(4): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0012others(13): Show | a0001c0001t0003g0104 a0001c0001t0006g0160 a0001c0001t0012g0199 others(27): Show |
30 | 202 | 0.1485 | -5 | c.*26 others(16): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1455 | chr15 | TogoVar | |||||||
APBA3_chr19_3745772_3766692 | 3762266 | ATATAT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00735.hp1 others(43): Show |
a0001a0002a0006others(6): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0002a0001c0003t0004a0001c0004t0002others(12): Show | a0001c0002t0002g0013 a0001c0002t0002g0092 a0001c0003t0004g0038 others(21): Show |
46 | 448 | 0.1027 | -5 | c.-77 others(14): Show |
APBA3 | ENSG00000011132.12 | transcript | ENST00000316757.4 | protein_coding | 575 | chr19 | TogoVar | |||||||
APBB1IP_chr10_26433341_26572803 | 26438484 | TTAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(243): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(242): Show |
246 | 333 | 0.7387 | -5 | c.-20 others(20): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26484295 | GTTTGT | G | intron_variant | MODIFIER | HG00735.hp2 HG01099.hp2 HG01106.hp2 others(18): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0014a0002c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0002g0269 others(18): Show |
21 | 349 | 0.0602 | -5 | c.1-8 others(18): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |