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 | 95003142 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02109.hp2 HG02258.hp1 others(8): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0008a0006c0006others(1): Show | a0001c0001t0003a0002c0008t0003a0006c0006t0003others(1): Show | a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0107 others(8): Show |
11 | 103 | 0.1068 | 8 | c.197 others(27): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 95003165 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03195.hp1 NA18906.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 others(1): Show |
4 | 148 | 0.0270 | 8 | c.197 others(27): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 95008663 | A | AGATAAAG others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02976.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0111 a0001c0001t0002g0105 a0001c0001t0002g0121 |
3 | 180 | 0.0167 | 8 | c.211 others(27): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 95020918 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(85): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0015a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(85): Show |
88 | 136 | 0.6471 | 8 | c.211 others(29): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 95036702 | C | CTTCTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01255.hp2 others(36): Show |
a0001a0002a0004 | a0001c0001a0001c0015a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0031 others(36): Show |
39 | 120 | 0.3250 | 8 | c.211 others(29): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 95036702 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(52): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0008a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0012 a0001c0001t0001g0041 a0001c0001t0001g0047 others(52): Show |
55 | 136 | 0.4044 | 8 | c.211 others(29): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 95039736 | C | CTTCATTC others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03098.hp1 HG03486.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0085 a0001c0001t0002g0078 others(3): Show |
6 | 73 | 0.0822 | 8 | c.211 others(29): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 95041444 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(34): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0015a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0038 others(34): Show |
37 | 83 | 0.4458 | 8 | c.211 others(29): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200613027 | T | TGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(82): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0014others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(11): Show | a0001c0001t0001g0235 a0001c0001t0001g0265 a0001c0001t0001g0280 others(82): Show |
85 | 184 | 0.4620 | 8 | c.144 others(25): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200621676 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(103): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0008a0001c0019others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0120 others(101): Show |
106 | 116 | 0.9138 | 8 | c.200 others(25): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 18/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200630548 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG01123.hp2 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0020others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(7): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 others(49): Show |
52 | 79 | 0.6582 | 8 | c.222 others(27): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200663545 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02280.hp2 others(12): Show |
a0001a0019 | a0001c0001a0001c0014a0019c0032 | a0001c0001t0001a0001c0014t0001a0019c0032t0001 | a0001c0001t0001g0004 a0001c0001t0001g0203 a0001c0001t0001g0214 others(11): Show |
15 | 294 | 0.0510 | 8 | c.354 others(25): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 31/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AP1AR_chr4_112226787_112278110 | 112269093 | G | GATATATA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01070.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0021a0001c0001t0026 | a0001c0001t0006g0003 a0001c0001t0006g0005 a0001c0001t0006g0010 others(12): Show |
21 | 222 | 0.0946 | 8 | c.*69 others(17): Show |
AP1AR | ENSG00000138660.12 | transcript | ENST00000274000.10 | protein_coding | 10/10 | 703 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AP1B1_chr22_29322680_29393570 | 29366833 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01496.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0001t0001g0195 a0001c0003t0002g0097 a0001c0003t0003g0236 others(1): Show |
4 | 75 | 0.0533 | 8 | c.37+ others(21): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2/22 | chr22 | TogoVar | |||||||
AP1B1_chr22_29322680_29393570 | 29390582 | T | TTTTATTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00558.hp2 others(77): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0013 | a0001c0001t0001a0001c0001t0008a0001c0001t0015others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0039 others(74): Show |
80 | 255 | 0.3137 | 8 | c.-21 others(19): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2013 | chr22 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71768500 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00741.hp1 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0034 | a0002c0002t0006g0045 a0002c0002t0006g0046 a0002c0002t0006g0099 others(14): Show |
17 | 49 | 0.3469 | 8 | c.642 others(25): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 6/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71794835 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01257.hp2 HG01978.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0007a0001c0001t0009a0002c0002t0001others(1): Show | a0001c0001t0007g0080 a0001c0001t0007g0087 a0001c0001t0009g0001 others(5): Show |
9 | 65 | 0.1385 | 8 | c.-3- others(23): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16215194 | C | CAGGGGCG others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01433.hp2 HG03688.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0008a0001c0001t0115others(5): Show | a0001c0001t0005g0246 a0001c0001t0008g0250 a0001c0001t0115g0226 others(6): Show |
9 | 254 | 0.0354 | 8 | c.546 others(25): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | chr19 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16239239 | C | CTTTTTTT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01934.hp1 HG02451.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0037a0001c0001t0086others(2): Show | a0001c0001t0029g0014 a0001c0001t0029g0183 a0001c0001t0037g0267 others(4): Show |
7 | 44 | 0.1591 | 8 | c.*48 others(19): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 4845 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16244837 | A | AAAATAAA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG03098.hp2 NA18943.hp2 NA18983.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0102a0001c0001t0122others(1): Show | a0001c0001t0036g0254 a0001c0001t0036g0266 a0001c0001t0102g0214 others(2): Show |
5 | 251 | 0.0199 | 8 | c.*10 others(21): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 10429 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16250292 | A | ATGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(64): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0036a0001c0001t0042others(33): Show | a0001c0001t0006g0016 a0001c0001t0036g0266 a0001c0001t0042g0081 others(64): Show |
67 | 156 | 0.4295 | 8 | c.*15 others(21): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4387 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 NA18747.hp2 NA18939.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0217 a0001c0002t0001g0117 a0001c0002t0002g0113 others(3): Show |
6 | 14 | 0.4286 | 8 | c.*25 others(19): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10585294 | A | AGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02258.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 others(3): Show |
6 | 361 | 0.0166 | 8 | c.43- others(23): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15834439 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02132.hp1 HG03490.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0001 a0001c0001t0002g0035 a0001c0001t0002g0037 others(5): Show |
12 | 193 | 0.0622 | 8 | c.427 others(25): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223770497 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(111): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0047 others(111): Show |
114 | 125 | 0.9120 | 8 | c.292 others(25): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223774372 | T | TAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01071.hp2 HG01255.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0004g0253 a0001c0001t0005g0269 a0001c0001t0007g0329 others(7): Show |
10 | 14 | 0.7143 | 8 | c.291 others(25): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780276 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01258.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0002g0050 others(5): Show |
8 | 252 | 0.0317 | 8 | c.4-2 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223799208 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02698.hp2 HG03225.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0077 a0001c0001t0001g0250 a0001c0001t0001g0302 others(6): Show |
9 | 43 | 0.2093 | 8 | c.4-2 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223807867 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0330 a0001c0001t0003g0056 a0001c0001t0005g0328 others(5): Show |
8 | 140 | 0.0571 | 8 | c.3+2 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223832135 | C | CTCTGTGT others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02970.hp2 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0195 a0001c0001t0002g0174 a0001c0001t0002g0175 |
3 | 185 | 0.0162 | 8 | c.3+5 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223832135 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01255.hp1 HG02055.hp2 others(15): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 others(15): Show |
18 | 200 | 0.0900 | 8 | c.3+5 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223832352 | C | CACAAACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(176): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0043 others(175): Show |
179 | 337 | 0.5312 | 8 | c.3+5 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223833241 | A | AATAAATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00544.hp2 others(87): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0077 others(86): Show |
90 | 184 | 0.4891 | 8 | c.3+4 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223833241 | A | AATACATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01070.hp2 others(46): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 others(46): Show |
49 | 143 | 0.3427 | 8 | c.3+4 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223833882 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG01123.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0087 a0001c0001t0002g0309 a0001c0001t0002g0310 others(10): Show |
13 | 119 | 0.1092 | 8 | c.3+3 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP2A1_chr19_49762001_49812114 | 49772255 | T | TTTGTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG01074.hp2 others(51): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0174 others(48): Show |
54 | 338 | 0.1598 | 8 | c.67+ others(23): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35583514 | T | TTCTCTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG02559.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0185 a0001c0002t0001g0189 a0001c0002t0001g0201 others(3): Show |
6 | 73 | 0.0822 | 8 | c.-39 others(19): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35583514 | T | TTTTCTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02896.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0192 a0001c0002t0001g0234 a0001c0002t0001g0274 others(2): Show |
5 | 72 | 0.0694 | 8 | c.-39 others(19): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35648743 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00738.hp1 HG00738.hp2 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(4): Show | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(63): Show |
66 | 93 | 0.7097 | 8 | c.153 others(27): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35656268 | T | TAGGGGGC others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(154): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0055 others(152): Show |
157 | 188 | 0.8351 | 8 | c.179 others(27): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720545 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01081.hp2 HG02055.hp2 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(1): Show | a0001c0001t0002g0115 a0001c0001t0002g0168 a0001c0001t0003g0039 others(3): Show |
6 | 287 | 0.0209 | 8 | c.278 others(27): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720573 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01256.hp2 HG01258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0023 a0001c0001t0003g0046 a0001c0001t0005g0003 others(5): Show |
8 | 201 | 0.0398 | 8 | c.278 others(27): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78018671 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03516.hp2 NA20129.hp2 |
a0001a0007 | a0001c0004a0001c0005a0007c0013 | a0001c0004t0002a0001c0005t0002a0007c0013t0002 | a0001c0004t0002g0006 a0001c0005t0002g0187 a0007c0013t0002g0193 |
3 | 108 | 0.0278 | 8 | c.299 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78110684 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02135.hp1 NA19002.hp2 NA19043.hp2 |
a0001a0003 | a0001c0002a0003c0008 | a0001c0002t0002a0003c0008t0002 | a0001c0002t0002g0163 a0001c0002t0002g0169 a0003c0008t0002g0038 |
3 | 114 | 0.0263 | 8 | c.225 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78134149 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01928.hp1 HG02083.hp2 others(13): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0007 | a0001c0002t0001a0001c0002t0002a0001c0004t0002others(1): Show | a0001c0002t0001g0184 a0001c0002t0002g0075 a0001c0002t0002g0137 others(13): Show |
16 | 131 | 0.1221 | 8 | c.165 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78184686 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
a0001a0003 | a0001c0004a0003c0008 | a0001c0004t0002a0003c0008t0002 | a0001c0004t0002g0006 a0003c0008t0002g0035 a0003c0008t0002g0036 others(2): Show |
5 | 172 | 0.0291 | 8 | c.787 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78202552 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01070.hp1 HG01106.hp1 others(18): Show |
a0001a0002 | a0001c0002a0001c0012a0002c0003 | a0001c0002t0001a0001c0002t0002a0001c0012t0001others(1): Show | a0001c0002t0001g0139 a0001c0002t0001g0180 a0001c0002t0002g0131 others(18): Show |
21 | 36 | 0.5833 | 8 | c.786 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78229575 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(34): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0083 a0001c0001t0001g0084 others(34): Show |
37 | 165 | 0.2242 | 8 | c.280 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 3/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78243273 | C | CCATTCAT others(1): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01496.hp1 HG02055.hp2 others(5): Show |
a0001a0007 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0002a0001c0004t0001a0001c0005t0002others(1): Show | a0001c0001t0002g0011 a0001c0004t0001g0077 a0001c0005t0002g0004 others(5): Show |
8 | 167 | 0.0479 | 8 | c.205 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 2/26 | chr5 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82665376 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02132.hp1 HG02165.hp1 others(2): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0016 | a0001c0001t0001a0001c0005t0001a0005c0016t0001 | a0001c0001t0001g0192 a0001c0001t0001g0226 a0001c0001t0001g0290 others(2): Show |
5 | 32 | 0.1563 | 8 | c.197 others(23): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 16/26 | chr15 | TogoVar |