| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AOC1_chr7_150847517_150866504 | 150853661 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0117a0001c0003t0003g0149 | 2 | 420 | 0.0048 | -12 | c.-17 others(29): Show |
AOC1 | ENSG00000002726.21 | transcript | ENST00000360937.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AOPEP_chr9_94721699_95092159 | 94743211 | GGAAGAAG others(5): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01255.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0001a0002c0002t0002a0002c0002t0005others(3): Show | a0001c0001t0001g0122a0001c0001t0001g0123a0002c0002t0002g0124others(12): Show | 15 | 182 | 0.0824 | -12 | c.-13 others(33): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| AOPEP_chr9_94721699_95092159 | 94821970 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 182 | 0.0055 | -12 | c.136 others(33): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| AOPEP_chr9_94721699_95092159 | 94834804 | GCATGCAT others(5): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01255.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0002c0008t0001a0002c0008t0002 | a0001c0001t0001g0008a0001c0001t0001g0122a0001c0001t0001g0123others(2): Show | 5 | 182 | 0.0275 | -12 | c.136 others(33): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| AOPEP_chr9_94721699_95092159 | 94834808 | GCATGCAT others(5): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG02258.hp1 HG04115.hp1 |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0002a0008c0011t0001 | a0001c0001t0002g0032a0008c0011t0001g0005a0008c0011t0001g0006 | 3 | 182 | 0.0165 | -12 | c.136 others(33): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| AOPEP_chr9_94721699_95092159 | 94869971 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01515.hp2 HG02145.hp1 HG02257.hp2 others(15): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0016a0002c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0016t0001others(4): Show | a0001c0001t0001g0008a0001c0001t0001g0034a0001c0001t0001g0120others(15): Show | 18 | 182 | 0.0989 | -12 | c.136 others(33): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| AOPEP_chr9_94721699_95092159 | 94877427 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 182 | 0.0055 | -12 | c.136 others(33): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| AOPEP_chr9_94721699_95092159 | 94885348 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG02559.hp1 HG03704.hp2 others(6): Show |
a0001a0011 | a0001c0001a0011c0012 | a0001c0001t0001a0011c0012t0002 | a0001c0001t0001g0016a0001c0001t0001g0076a0001c0001t0001g0081others(6): Show | 9 | 182 | 0.0495 | -12 | c.136 others(33): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| AOPEP_chr9_94721699_95092159 | 94983020 | GTTTTGTT others(5): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp1 HG03516.hp2 others(1): Show |
a0007 | a0007c0006 | a0007c0006t0003 | a0007c0006t0003g0104a0007c0006t0003g0106a0007c0006t0003g0109others(1): Show | 4 | 182 | 0.0220 | -12 | c.197 others(31): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| AOPEP_chr9_94721699_95092159 | 95091700 | TCTCTTCC others(5): Show |
T | downstream_gene_variant | MODIFIER | NA18964.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0154 | 1 | 182 | 0.0055 | -12 | c.*50 others(23): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 4542 | chr9 | TogoVar | ||||||
| AOX1_chr2_200581014_200676495 | 200630210 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01261.hp2 HG01361.hp2 others(16): Show |
a0001a0002a0019 | a0001c0001a0002c0002a0019c0011 | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0168a0001c0001t0001g0169a0001c0001t0001g0170others(16): Show | 19 | 370 | 0.0514 | -12 | c.222 others(31): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AOX1_chr2_200581014_200676495 | 200630548 | GAGGAAGG others(5): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02976.hp1 NA18906.hp2 |
a0001a0015 | a0001c0005a0015c0017 | a0001c0005t0002a0001c0005t0004a0015c0017t0001 | a0001c0005t0002g0060a0001c0005t0004g0297a0015c0017t0001g0063 | 3 | 370 | 0.0081 | -12 | c.222 others(31): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AOX1_chr2_200581014_200676495 | 200638892 | AGCTCAAT others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(274): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0008others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(39): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0014others(271): Show | 277 | 370 | 0.7487 | -12 | c.256 others(29): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AOX1_chr2_200581014_200676495 | 200659782 | TCTCTCAC others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(87): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0027a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(7): Show | a0001c0001t0001g0054a0001c0001t0001g0124a0001c0001t0001g0162others(87): Show | 90 | 370 | 0.2432 | -12 | c.330 others(29): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AP1B1_chr22_29322680_29393570 | 29355460 | TAAACAAA others(5): Show |
T | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0303 | 1 | 378 | 0.0027 | -12 | c.717 others(27): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 6/22 | chr22 | TogoVar | ||||||
| AP1B1_chr22_29322680_29393570 | 29366833 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02886.hp2 HG03540.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0029a0001c0003t0001g0030a0001c0003t0001g0032 | 3 | 378 | 0.0079 | -12 | c.37+ others(25): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2/22 | chr22 | TogoVar | ||||||
| AP1B1_chr22_29322680_29393570 | 29392378 | CTTTTTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 378 | 0.0027 | -12 | c.-39 others(23): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 3809 | chr22 | TogoVar | ||||||
| AP1G1_chr16_71724000_71813834 | 71736117 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 | 1 | 320 | 0.0031 | -12 | c.226 others(31): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | ||||||
| AP1G1_chr16_71724000_71813834 | 71736551 | ATTATTTA others(5): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG03710.hp2 NA18993.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0001 | a0001c0001t0002g0297a0001c0001t0003g0206a0002c0002t0001g0154 | 3 | 320 | 0.0094 | -12 | c.226 others(31): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | ||||||
| AP1G1_chr16_71724000_71813834 | 71782479 | ATTATTAT others(5): Show |
A | intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0094 | 1 | 320 | 0.0031 | -12 | c.201 others(29): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 2/22 | chr16 | TogoVar | ||||||
| AP1G1_chr16_71724000_71813834 | 71786301 | GTCTTAAA others(5): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0041a0001c0001t0016g0042 | 2 | 320 | 0.0063 | -12 | c.201 others(29): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 2/22 | chr16 | TogoVar | ||||||
| AP1G1_chr16_71724000_71813834 | 71794835 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0089 | 1 | 320 | 0.0031 | -12 | c.-3- others(27): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | ||||||
| AP1G2_chr14_23554567_23572791 | 23567687 | AGGCAGCG others(5): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 396 | 0.0025 | -12 | c.-6+ others(23): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
| AP1M1_chr19_16192911_16250906 | 16243246 | TTTTTTGT others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0035a0001c0001t0038others(2): Show | a0001c0001t0034g0048a0001c0001t0034g0050a0001c0001t0035g0030others(4): Show | 8 | 308 | 0.0260 | -12 | c.*88 others(23): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 8840 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| AP1M1_chr19_16192911_16250906 | 16250280 | GTGTGTGT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0018others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0037a0001c0001t0001g0040others(25): Show | 30 | 308 | 0.0974 | -12 | c.*15 others(25): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4375 | chr19 | TogoVar | ||||||
| AP1M1_chr19_16192911_16250906 | 16250292 | ATGTGTGT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0115 | a0001c0001t0115g0224 | 1 | 308 | 0.0033 | -12 | c.*15 others(25): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4387 | chr19 | TogoVar | ||||||
| AP1M2_chr19_10567671_10592312 | 10585276 | GAAGAAAA others(5): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00642.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0030a0001c0001t0001g0031others(18): Show | 24 | 394 | 0.0609 | -12 | c.43- others(27): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| AP1M2_chr19_10567671_10592312 | 10585283 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0249 | 1 | 394 | 0.0025 | -12 | c.43- others(27): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| AP1S1_chr7_101149476_101166276 | 101155956 | CGCAGTGG others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 2 | 432 | 0.0046 | -12 | c.4-6 others(23): Show |
AP1S1 | ENSG00000106367.15 | transcript | ENST00000337619.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AP1S2_chrX_15820806_15859813 | 15834439 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 318 | 0.0031 | -12 | c.427 others(29): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
| AP1S3_chr2_223750326_223842582 | 223774372 | TAATAAAT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(188): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(35): Show | a0001c0001t0001g0002a0001c0001t0001g0032a0001c0001t0001g0043others(188): Show | 191 | 340 | 0.5618 | -12 | c.291 others(29): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
| AP1S3_chr2_223750326_223842582 | 223780298 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0280 | 1 | 340 | 0.0029 | -12 | c.4-2 others(25): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
| AP1S3_chr2_223750326_223842582 | 223780300 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0300 | 1 | 340 | 0.0029 | -12 | c.4-2 others(25): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
| AP1S3_chr2_223750326_223842582 | 223780304 | TATATAGA others(5): Show |
T | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 340 | 0.0029 | -12 | c.4-2 others(25): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
| AP1S3_chr2_223750326_223842582 | 223780308 | TAGAGAGA others(5): Show |
T | intron_variant | MODIFIER | HG03688.hp1 NA18981.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0113a0001c0001t0004g0124a0001c0001t0004g0253 | 3 | 340 | 0.0088 | -12 | c.4-2 others(25): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
| AP1S3_chr2_223750326_223842582 | 223780347 | AGAGAGAG others(5): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0240 | 1 | 340 | 0.0029 | -12 | c.4-2 others(25): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
| AP1S3_chr2_223750326_223842582 | 223799208 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG02451.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0047a0001c0001t0056 | a0001c0001t0047g0322a0001c0001t0056g0003 | 2 | 340 | 0.0059 | -12 | c.4-2 others(27): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
| AP1S3_chr2_223750326_223842582 | 223828058 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0293 | 1 | 340 | 0.0029 | -12 | c.3+9 others(25): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
| AP1S3_chr2_223750326_223842582 | 223832131 | CTCTCTGT others(5): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG02970.hp1 HG03041.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0019others(3): Show | a0001c0001t0001g0110a0001c0001t0001g0136a0001c0001t0001g0138others(6): Show | 9 | 340 | 0.0265 | -12 | c.3+5 others(25): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
| AP1S3_chr2_223750326_223842582 | 223833241 | AATACATA others(5): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG02155.hp1 NA18963.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0002g0234a0001c0001t0003g0284a0001c0001t0003g0285others(3): Show | 6 | 340 | 0.0177 | -12 | c.3+4 others(25): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
| AP1S3_chr2_223750326_223842582 | 223837161 | AGCACCGA others(5): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0337 | 1 | 340 | 0.0029 | -12 | c.3+2 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
| AP1S3_chr2_223750326_223842582 | 223838221 | CATTTATT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG00735.hp1 others(57): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0239a0001c0001t0001g0249others(57): Show | 60 | 340 | 0.1765 | -12 | c.-78 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 640 | chr2 | TogoVar | ||||||
| AP1S3_chr2_223750326_223842582 | 223841228 | TCAGAAGA others(5): Show |
T | upstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0315 | 1 | 340 | 0.0029 | -12 | c.-37 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3647 | chr2 | TogoVar | ||||||
| AP2A2_chr11_920870_1017240 | 968432 | TCCCATCC others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(115): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(115): Show | 118 | 268 | 0.4403 | -12 | c.137 others(29): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | chr11 | TogoVar | ||||||
| AP2B1_chr17_35582322_35731413 | 35583514 | TTCTCTCT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0079a0001c0001t0002g0172others(2): Show | 6 | 372 | 0.0161 | -12 | c.-39 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar | ||||||
| AP2B1_chr17_35582322_35731413 | 35605216 | TTCTTTTC others(5): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040a0001c0001t0003g0041 | 2 | 372 | 0.0054 | -12 | c.144 others(27): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| AP2B1_chr17_35582322_35731413 | 35616142 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01123.hp2 HG01243.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0126a0001c0001t0002g0075a0001c0001t0002g0080others(28): Show | 31 | 372 | 0.0833 | -12 | c.525 others(29): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| AP2B1_chr17_35582322_35731413 | 35718312 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0159 | 1 | 372 | 0.0027 | -12 | c.278 others(30): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| AP2B1_chr17_35582322_35731413 | 35720567 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG03516.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0163a0001c0001t0009g0164 | 2 | 372 | 0.0054 | -12 | c.278 others(31): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| AP2M1_chr3_184169855_184189091 | 184170135 | CCCCGCAC others(5): Show |
C | upstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 422 | 0.0024 | -12 | c.-48 others(23): Show |
AP2M1 | ENSG00000161203.14 | transcript | ENST00000292807.9 | protein_coding | 4719 | chr3 | TogoVar |