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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0001g0008 a0001c0001t0001g0122 a0001c0001t0001g0123 others(2): Show |
5 | 180 | 0.0278 | -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 | a0001c0001t0002g0028 a0008c0011t0001g0005 a0008c0011t0001g0006 |
3 | 159 | 0.0189 | -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 | a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0120 others(15): Show |
18 | 32 | 0.5625 | -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 | 40 | 0.0250 | -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 |
a0001a0012 | a0001c0001a0012c0012 | a0001c0001t0001a0012c0012t0002 | a0001c0001t0001g0016 a0001c0001t0001g0076 a0001c0001t0001g0077 others(6): Show |
9 | 25 | 0.3600 | -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 |
a0006 | a0006c0006 | a0006c0006t0003 | a0006c0006t0003g0104 a0006c0006t0003g0106 a0006c0006t0003g0109 others(1): Show |
4 | 180 | 0.0222 | -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 | 180 | 0.0056 | -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(15): Show |
a0001a0018 | a0001c0001a0018c0011 | a0001c0001t0001a0001c0001t0002a0018c0011t0001 | a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 others(15): Show |
18 | 118 | 0.1525 | -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 |
a0001a0011 | a0001c0005a0011c0017 | a0001c0005t0002a0001c0005t0004a0011c0017t0001 | a0001c0005t0002g0061 a0001c0005t0004g0296 a0011c0017t0001g0064 |
3 | 30 | 0.1000 | -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(273): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0008others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(39): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(269): Show |
276 | 368 | 0.7500 | -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 | a0001c0001t0001g0003 a0001c0001t0001g0055 a0001c0001t0001g0124 others(86): Show |
90 | 331 | 0.2719 | -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 | a0001c0002t0001g0302 | 1 | 372 | 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 | a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0033 |
3 | 74 | 0.0405 | -12 | c.37+ others(25): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2/22 | chr22 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71736117 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 | 1 | 212 | 0.0047 | -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 | a0001c0001t0002g0297 a0001c0001t0003g0206 a0002c0002t0001g0154 |
3 | 151 | 0.0199 | -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 | 318 | 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 | a0001c0001t0016g0041 a0001c0001t0016g0042 |
2 | 318 | 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 | 57 | 0.0175 | -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 | a0001c0001t0001g0095 | 1 | 394 | 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 | a0001c0001t0039a0001c0001t0040a0001c0001t0041others(2): Show | a0001c0001t0039g0051 a0001c0001t0039g0053 a0001c0001t0040g0035 others(4): Show |
8 | 61 | 0.1311 | -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 | a0001c0001t0002a0001c0001t0014a0001c0001t0019others(6): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0040 others(25): Show |
30 | 304 | 0.0987 | -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 | a0001c0001t0102 | a0001c0001t0102g0214 | 1 | 90 | 0.0111 | -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 | a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 others(18): Show |
24 | 232 | 0.1034 | -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 | a0001c0001t0005g0007 | 1 | 106 | 0.0094 | -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 | a0001c0001t0003g0023 | 2 | 430 | 0.0047 | -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 | a0001c0001t0002g0087 | 1 | 182 | 0.0055 | -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(187): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(35): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0043 others(187): Show |
190 | 194 | 0.9794 | -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 | a0001c0001t0022 | a0001c0001t0022g0280 | 1 | 337 | 0.0030 | -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 | 335 | 0.0030 | -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 | a0001c0001t0003g0031 | 1 | 284 | 0.0035 | -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 | a0001c0001t0004g0114 a0001c0001t0004g0127 a0001c0001t0004g0253 |
3 | 230 | 0.0130 | -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 | a0001c0001t0029 | a0001c0001t0029g0240 | 1 | 266 | 0.0038 | -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 | a0001c0001t0046a0001c0001t0056 | a0001c0001t0046g0322 a0001c0001t0056g0003 |
2 | 36 | 0.0556 | -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 | a0001c0001t0022 | a0001c0001t0022g0293 | 1 | 29 | 0.0345 | -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 | a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0136 others(6): Show |
9 | 221 | 0.0407 | -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 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0234 a0001c0001t0003g0284 a0001c0001t0003g0285 others(3): Show |
6 | 100 | 0.0600 | -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 | a0001c0001t0006 | a0001c0001t0006g0337 | 1 | 338 | 0.0030 | -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(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0239 a0001c0001t0001g0249 others(57): Show |
60 | 69 | 0.8696 | -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 | a0001c0001t0006 | a0001c0001t0006g0315 | 1 | 338 | 0.0030 | -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 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(115): Show |
118 | 266 | 0.4436 | -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 | a0001c0001t0002g0004 a0001c0001t0002g0081 a0001c0001t0002g0170 others(2): Show |
6 | 73 | 0.0822 | -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 | a0001c0001t0003g0044 a0001c0001t0003g0045 |
2 | 370 | 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 | a0001c0001t0001g0128 a0001c0001t0002g0078 a0001c0001t0002g0082 others(28): Show |
31 | 41 | 0.7561 | -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 | a0001c0001t0007g0157 | 1 | 120 | 0.0083 | -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 | a0001c0001t0009g0161 a0001c0001t0009g0162 |
2 | 328 | 0.0061 | -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 | 415 | 0.0024 | -12 | c.-48 others(23): Show |
AP2M1 | ENSG00000161203.14 | transcript | ENST00000292807.9 | protein_coding | 4719 | chr3 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46839286 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG02055.hp2 HG02293.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0040 a0001c0001t0001g0067 a0001c0001t0001g0145 others(8): Show |
12 | 95 | 0.1263 | -12 | c.267 others(27): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46855092 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | NA18982.hp1 NA18993.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0149 |
3 | 110 | 0.0273 | -12 | c.-43 others(23): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4247 | chr19 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78055016 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00735.hp1 others(87): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0032 others(87): Show |
90 | 98 | 0.9184 | -12 | c.257 others(33): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78151832 | CTCCCCTC others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(46): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0012a0003c0007others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0012t0001others(3): Show | a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0180 others(46): Show |
49 | 224 | 0.2188 | -12 | c.147 others(31): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 14/26 | chr5 | TogoVar |