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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AOAH_chr7_36507941_36729494 | 36684933 | AAAAAAAG others(3): Show |
A | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0012 | 1 | 240 | 0.0042 | -10 | c.223 others(27): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 2/20 | chr7 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36707831 | TTTTTCTT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(208): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 others(208): Show |
211 | 269 | 0.7844 | -10 | c.127 others(29): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
AOC1_chr7_150847517_150866504 | 150853661 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(195): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0003a0001c0014others(21): Show | a0001c0002t0002a0001c0002t0006a0001c0003t0003others(23): Show | a0001c0002t0002g0002 a0001c0002t0002g0010 a0001c0002t0002g0027 others(65): Show |
198 | 223 | 0.8879 | -10 | c.-17 others(27): Show |
AOC1 | ENSG00000002726.21 | transcript | ENST00000360937.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AOC2_chr17_42839580_42855707 | 42848536 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 | 1 | 288 | 0.0035 | -10 | c.158 others(27): Show |
AOC2 | ENSG00000131480.9 | transcript | ENST00000253799.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AOC3_chr17_42846199_42863124 | 42848536 | TATATATA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG03471.hp1 | a0012 | a0012c0016 | a0012c0016t0002 | a0012c0016t0002g0024 | 1 | 282 | 0.0035 | -10 | c.-28 others(21): Show |
AOC3 | ENSG00000131471.7 | transcript | ENST00000308423.7 | protein_coding | 2662 | chr17 | TogoVar | |||||||
AOPEP_chr9_94721699_95092159 | 94774311 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03654.hp2 HG04204.hp1 NA18969.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0115 a0001c0001t0001g0118 a0005c0005t0001g0113 others(4): Show |
7 | 98 | 0.0714 | -10 | c.964 others(27): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94821970 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01975.hp2 HG02165.hp1 others(13): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0157 others(13): Show |
16 | 67 | 0.2388 | -10 | c.136 others(31): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94869971 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG02559.hp2 HG02615.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0001c0001t0002a0002c0008t0001 | a0001c0001t0001g0085 a0001c0001t0001g0111 a0001c0001t0002g0029 others(2): Show |
5 | 19 | 0.2632 | -10 | c.136 others(31): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94885348 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02717.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0074 a0001c0001t0002g0066 |
2 | 18 | 0.1111 | -10 | c.136 others(31): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94943919 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG02965.hp2 |
a0002 | a0002c0002a0002c0008 | a0002c0002t0002a0002c0008t0001 | a0002c0002t0002g0138 a0002c0008t0001g0128 |
2 | 113 | 0.0177 | -10 | c.166 others(31): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94982565 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02572.hp1 others(6): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0002c0008others(1): Show | a0001c0001t0002a0002c0002t0002a0002c0008t0002others(1): Show | a0001c0001t0002g0025 a0001c0001t0002g0165 a0001c0001t0002g0166 others(6): Show |
9 | 126 | 0.0714 | -10 | c.197 others(29): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94996350 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG02027.hp2 HG02155.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0027 a0001c0001t0001g0156 a0001c0001t0001g0157 others(6): Show |
9 | 57 | 0.1579 | -10 | c.197 others(29): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 95029927 | TTGTTGAA others(3): Show |
T | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG04115.hp2 |
a0001a0010 | a0001c0001a0010c0010 | a0001c0001t0001a0010c0010t0001 | a0001c0001t0001g0143 a0010c0010t0001g0144 a0010c0010t0001g0145 |
3 | 180 | 0.0167 | -10 | c.211 others(31): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 95043671 | GTTTTGTT others(3): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG00621.hp2 others(39): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0014a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(5): Show | a0001c0001t0001g0013 a0001c0001t0001g0027 a0001c0001t0001g0053 others(39): Show |
42 | 180 | 0.2333 | -10 | c.211 others(31): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | chr9 | TogoVar | |||||||
AOX1_chr2_200581014_200676495 | 200630210 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01884.hp2 HG02280.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0273 a0001c0001t0001g0290 others(10): Show |
14 | 114 | 0.1228 | -10 | c.222 others(29): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200659782 | TCTCTCAC others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00741.hp1 others(26): Show |
a0001a0005a0009 | a0001c0001a0001c0008a0001c0019others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(4): Show | a0001c0001t0001g0236 a0001c0001t0001g0271 a0001c0001t0001g0356 others(26): Show |
29 | 270 | 0.1074 | -10 | c.330 others(27): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29366833 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02922.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0237 |
3 | 74 | 0.0405 | -10 | c.37+ others(23): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2/22 | chr22 | TogoVar | |||||||
AP1B1_chr22_29322680_29393570 | 29392378 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01346.hp2 HG03225.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(2): Show | a0001c0001t0001g0067 a0001c0003t0001g0093 a0001c0003t0004g0343 others(2): Show |
5 | 66 | 0.0758 | -10 | c.-39 others(21): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 3809 | chr22 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71779984 | AGTTTTTT others(3): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0300 | 1 | 318 | 0.0031 | -10 | c.202 others(27): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 2/22 | chr16 | TogoVar | |||||||
AP1G2_chr14_23554567_23572791 | 23560778 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 148 | 0.0068 | -10 | c.199 others(27): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 19/21 | chr14 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16222201 | TATTATTA others(3): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0001t0038a0001c0002t0011others(1): Show | a0001c0001t0016g0018 a0001c0001t0038g0223 a0001c0001t0038g0224 others(2): Show |
5 | 306 | 0.0163 | -10 | c.547 others(27): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | chr19 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16222202 | ATTATTAT others(3): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01884.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0032a0001c0001t0110 | a0001c0001t0031g0024 a0001c0001t0031g0025 a0001c0001t0032g0026 others(2): Show |
5 | 303 | 0.0165 | -10 | c.547 others(27): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16250282 | GTGTGTGT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01071.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0020others(4): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0010 others(9): Show |
13 | 306 | 0.0425 | -10 | c.*15 others(23): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4377 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10577423 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01071.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0323 others(7): Show |
12 | 23 | 0.5217 | -10 | c.889 others(23): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10582891 | TCTTGGCT others(3): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02818.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 others(2): Show |
5 | 392 | 0.0128 | -10 | c.267 others(25): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 3/11 | chr19 | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15834439 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 182 | 0.0055 | -10 | c.427 others(27): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780276 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 245 | 0.0041 | -10 | c.4-2 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780300 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0279 | 1 | 335 | 0.0030 | -10 | c.4-2 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780302 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG02451.hp1 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0046 | a0001c0001t0003g0037 a0001c0001t0046g0322 |
2 | 316 | 0.0063 | -10 | c.4-2 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780304 | TATATAGA others(3): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG02897.hp2 HG03017.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0290 a0001c0001t0001g0295 a0001c0001t0002g0163 others(4): Show |
7 | 290 | 0.0241 | -10 | c.4-2 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780306 | TATAGAGA others(3): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02683.hp2 NA18998.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0125 a0001c0001t0003g0018 a0001c0001t0003g0062 others(2): Show |
5 | 287 | 0.0174 | -10 | c.4-2 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780308 | TAGAGAGA others(3): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG02148.hp2 NA18957.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0032 | a0001c0001t0003g0021 a0001c0001t0004g0070 a0001c0001t0004g0091 others(2): Show |
5 | 232 | 0.0216 | -10 | c.4-2 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780349 | AGAGAGAG others(3): Show |
A | intron_variant | MODIFIER | NA19240.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0057 | a0001c0001t0029g0242 a0001c0001t0057g0119 |
2 | 222 | 0.0090 | -10 | c.4-2 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223795586 | GCAGAAGG others(3): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 338 | 0.0030 | -10 | c.4-1 others(25): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223795590 | AAGGGGCC others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(268): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0055 others(267): Show |
271 | 338 | 0.8018 | -10 | c.4-1 others(25): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223828058 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0052 | a0001c0001t0002g0004 a0001c0001t0052g0005 |
2 | 30 | 0.0667 | -10 | c.3+9 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223832131 | CTCTCTGT others(3): Show |
C | intron_variant | MODIFIER | HG01258.hp1 HG02735.hp1 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0077 a0001c0001t0001g0134 a0001c0001t0001g0147 others(3): Show |
6 | 218 | 0.0275 | -10 | c.3+5 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223832133 | CTCTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0005 | 1 | 296 | 0.0034 | -10 | c.3+5 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP2A1_chr19_49762001_49812114 | 49803814 | CCTCATAG others(3): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 a0001c0001t0002g0035 |
2 | 340 | 0.0059 | -10 | c.234 others(27): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 18/22 | chr19 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 953618 | GCTCCGTC others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(110): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(110): Show |
113 | 257 | 0.4397 | -10 | c.68- others(25): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35583514 | TTCTCTCT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(61): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0006a0001c0001t0018others(3): Show | a0001c0001t0002g0001 a0001c0001t0002g0055 a0001c0001t0002g0065 others(60): Show |
64 | 131 | 0.4886 | -10 | c.-39 others(21): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35612880 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(137): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0002t0010others(5): Show | a0001c0002t0001g0005 a0001c0002t0001g0062 a0001c0002t0001g0184 others(136): Show |
140 | 183 | 0.7650 | -10 | c.525 others(27): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35616142 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp2 HG00741.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0009a0001c0002t0001others(4): Show | a0001c0001t0004g0320 a0001c0001t0004g0330 a0001c0001t0004g0341 others(31): Show |
34 | 44 | 0.7727 | -10 | c.525 others(27): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35718312 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG02257.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(2): Show | a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0003g0050 others(3): Show |
6 | 125 | 0.0480 | -10 | c.278 others(29): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720571 | ATATTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01943.hp2 HG02818.hp1 NA18986.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0158 a0001c0001t0004g0328 a0001c0001t0004g0332 others(1): Show |
4 | 331 | 0.0121 | -10 | c.278 others(29): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833427 | AAAGAGAA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 183 | 0.0055 | -10 | c.*50 others(21): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4739 | chr19 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46833445 | GAGAAGAG others(3): Show |
G | downstream_gene_variant | MODIFIER | HG02071.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0181 |
2 | 421 | 0.0048 | -10 | c.*49 others(21): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4721 | chr19 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46839286 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00642.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 a0001c0001t0001g0254 |
2 | 85 | 0.0235 | -10 | c.267 others(25): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78023439 | CAAGAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 134 | 0.0075 | -10 | c.289 others(29): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 24/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78055016 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG03516.hp2 NA18992.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0013 | a0001c0001t0002a0007c0013t0002 | a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0019 others(1): Show |
4 | 12 | 0.3333 | -10 | c.257 others(31): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar |