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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASTN2_chr9_116418112_117420057 | 116586837 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01934.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0066 a0001c0002t0004g0029 |
2 | 97 | 0.0206 | 8 | c.335 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116609379 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19012.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0002t0003others(1): Show | a0001c0001t0001g0095 a0001c0001t0006g0079 a0001c0002t0003g0094 others(1): Show |
4 | 15 | 0.2667 | 8 | c.335 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116632205 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03017.hp1 HG04199.hp2 |
a0001a0005a0006 | a0001c0001a0005c0024a0006c0020 | a0001c0001t0002a0005c0024t0013a0006c0020t0001 | a0001c0001t0002g0070 a0005c0024t0013g0101 a0006c0020t0001g0039 |
3 | 33 | 0.0909 | 8 | c.307 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116632252 | G | GGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01256.hp1 HG02922.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0002t0001g0036 others(2): Show |
5 | 29 | 0.1724 | 8 | c.307 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116660168 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01515.hp2 HG02698.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0008a0001c0002t0003a0001c0009t0008others(1): Show | a0001c0001t0008g0064 a0001c0002t0003g0066 a0001c0009t0008g0088 others(1): Show |
4 | 23 | 0.1739 | 8 | c.280 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116718972 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0005a0001c0003t0001a0001c0003t0004others(1): Show | a0001c0001t0005g0035 a0001c0003t0001g0054 a0001c0003t0004g0085 others(1): Show |
4 | 32 | 0.1250 | 8 | c.280 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116737610 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01243.hp1 HG01515.hp1 others(7): Show |
a0001a0002a0003 | a0001c0002a0001c0005a0001c0009others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(5): Show | a0001c0002t0001g0036 a0001c0002t0001g0057 a0001c0002t0002g0060 others(7): Show |
10 | 23 | 0.4348 | 8 | c.239 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116747693 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03017.hp2 HG03239.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0023 | a0001c0001t0002a0001c0002t0002a0001c0002t0008others(1): Show | a0001c0001t0002g0040 a0001c0002t0002g0058 a0001c0002t0008g0024 others(1): Show |
4 | 14 | 0.2857 | 8 | c.239 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116775599 | G | GGGAAAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01261.hp2 HG02572.hp1 others(3): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0013others(1): Show | a0001c0002t0001a0001c0002t0004a0001c0003t0003others(2): Show | a0001c0002t0001g0093 a0001c0002t0004g0043 a0001c0002t0004g0061 others(3): Show |
6 | 89 | 0.0674 | 8 | c.239 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116775608 | A | AGAAGGAA others(1): Show |
intron_variant | MODIFIER | HG03239.hp1 NA21309.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0008a0001c0005t0005 | a0001c0002t0008g0024 a0001c0005t0005g0047 |
2 | 41 | 0.0488 | 8 | c.239 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116790966 | G | GGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01496.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0003 | a0001c0001t0009g0086 a0001c0002t0003g0066 |
2 | 47 | 0.0426 | 8 | c.239 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116805109 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01256.hp2 HG01258.hp1 others(7): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0002g0050 a0001c0002t0001g0042 a0001c0002t0002g0023 others(7): Show |
10 | 19 | 0.5263 | 8 | c.239 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116851471 | C | CATCTATC others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG01515.hp1 others(6): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0006a0001c0001t0007a0001c0002t0001others(4): Show | a0001c0001t0006g0014 a0001c0001t0007g0087 a0001c0002t0001g0056 others(6): Show |
9 | 16 | 0.5625 | 8 | c.204 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116852878 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01099.hp1 HG01109.hp2 others(24): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0002g0018 others(24): Show |
27 | 31 | 0.8710 | 8 | c.204 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116993853 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02004.hp1 HG02109.hp1 others(4): Show |
a0001a0005 | a0001c0002a0001c0003a0005c0024 | a0001c0002t0001a0001c0002t0003a0001c0002t0010others(3): Show | a0001c0002t0001g0036 a0001c0002t0001g0056 a0001c0002t0003g0094 others(4): Show |
7 | 35 | 0.2000 | 8 | c.159 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 7/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116993876 | A | ATATATTT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02615.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0007 | a0001c0003t0001g0054 a0001c0003t0007g0071 |
2 | 90 | 0.0222 | 8 | c.159 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 7/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116998549 | T | TCATCCAT others(1): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02572.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0002a0001c0008a0001c0013 | a0001c0002t0001a0001c0002t0004a0001c0008t0005others(1): Show | a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0004g0029 others(2): Show |
5 | 10 | 0.5000 | 8 | c.159 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 7/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117003530 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03540.hp1 HG04199.hp1 others(3): Show |
a0001a0003 | a0001c0003a0003c0019 | a0001c0003t0003a0001c0003t0004a0001c0003t0007others(3): Show | a0001c0003t0003g0030 a0001c0003t0004g0085 a0001c0003t0007g0074 others(3): Show |
6 | 11 | 0.5455 | 8 | c.159 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 7/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117045975 | T | TGTACGTA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01884.hp1 HG02572.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0011others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0002g0050 a0001c0001t0005g0035 a0001c0001t0006g0016 others(6): Show |
9 | 70 | 0.1286 | 8 | c.127 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117048963 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01261.hp2 HG01515.hp2 others(11): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(11): Show | a0001c0001t0001g0100 a0001c0001t0007g0087 a0001c0001t0008g0064 others(11): Show |
14 | 46 | 0.3043 | 8 | c.127 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117060432 | A | AAGGAAGA others(1): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01934.hp1 HG02698.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0001a0001c0002t0004 | a0001c0001t0008g0064 a0001c0002t0001g0057 a0001c0002t0004g0091 |
3 | 83 | 0.0361 | 8 | c.127 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117060442 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03540.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0003a0001c0012 | a0001c0001t0001a0001c0003t0014a0001c0012t0001 | a0001c0001t0001g0099 a0001c0003t0014g0083 a0001c0012t0001g0098 |
3 | 74 | 0.0405 | 8 | c.127 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117060585 | C | CAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01884.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0025 | a0001c0001t0003a0001c0001t0009a0001c0025t0001 | a0001c0001t0003g0013 a0001c0001t0009g0086 a0001c0025t0001g0080 |
3 | 60 | 0.0500 | 8 | c.127 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117061139 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01934.hp1 HG02965.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0002g0040 a0001c0001t0003g0013 a0001c0002t0001g0042 others(5): Show |
8 | 35 | 0.2286 | 8 | c.127 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117087218 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0005 | a0001c0001t0001g0028 a0001c0008t0005g0073 |
2 | 51 | 0.0392 | 8 | c.127 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117108438 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01256.hp1 HG01515.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0053 a0001c0001t0004g0059 a0001c0001t0008g0064 others(4): Show |
7 | 24 | 0.2917 | 8 | c.116 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117116037 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | NA19066.hp2 NA21309.hp1 |
a0001a0002 | a0001c0009a0002c0004 | a0001c0009t0004a0002c0004t0006 | a0001c0009t0004g0032 a0002c0004t0006g0003 |
2 | 40 | 0.0500 | 8 | c.116 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117120012 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0050 a0001c0001t0005g0035 |
2 | 86 | 0.0233 | 8 | c.116 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117120049 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03209.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0005t0005a0001c0007t0001 | a0001c0001t0001g0099 a0001c0005t0005g0007 a0001c0007t0001g0011 |
3 | 91 | 0.0330 | 8 | c.116 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117134266 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02922.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0002a0001c0001t0011a0001c0005t0005others(1): Show | a0001c0001t0002g0070 a0001c0001t0011g0002 a0001c0005t0005g0084 others(1): Show |
4 | 78 | 0.0513 | 8 | c.116 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117192391 | G | GAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01081.hp1 others(22): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(15): Show | a0001c0001t0001g0015 a0001c0001t0001g0095 a0001c0001t0001g0100 others(22): Show |
25 | 91 | 0.2747 | 8 | c.101 others(29): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117205262 | G | GAGATAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01099.hp1 others(28): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 others(28): Show |
31 | 100 | 0.3100 | 8 | c.101 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117225574 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02572.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0003a0001c0011t0004 | a0001c0001t0003g0062 a0001c0011t0004g0097 |
2 | 35 | 0.0571 | 8 | c.631 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117298670 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02559.hp2 HG02615.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0007others(2): Show | a0001c0001t0001g0015 a0001c0001t0002g0070 a0001c0003t0007g0071 others(2): Show |
5 | 19 | 0.2632 | 8 | c.443 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117308213 | A | AAATCAAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01169.hp2 HG02004.hp2 others(4): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0004others(4): Show | a0001c0001t0001g0015 a0001c0001t0003g0062 a0001c0002t0004g0092 others(4): Show |
7 | 57 | 0.1228 | 8 | c.443 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | |||||||
ASXL1_chr20_32353331_32444319 | 32377972 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG02258.hp1 others(6): Show |
a0001a0005 | a0001c0005a0005c0009 | a0001c0005t0001a0005c0009t0003 | a0001c0005t0001g0186 a0001c0005t0001g0187 a0001c0005t0001g0188 others(6): Show |
9 | 86 | 0.1047 | 8 | c.252 others(25): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32378158 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00733.hp1 others(14): Show |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0001t0013a0001c0001t0019others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 others(13): Show |
17 | 106 | 0.1604 | 8 | c.252 others(25): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25784053 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00733.hp2 HG01167.hp2 others(12): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0180 others(12): Show |
15 | 106 | 0.1415 | 8 | c.404 others(27): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 5/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25803133 | A | AAATGAAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00735.hp2 others(30): Show |
a0001a0003a0008others(1): Show | a0001c0001a0003c0004a0008c0007others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0029others(6): Show | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0089 others(30): Show |
33 | 94 | 0.3511 | 8 | c.252 others(25): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25807986 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01106.hp1 others(16): Show |
a0001a0003 | a0001c0001a0001c0012a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(3): Show | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0092 others(16): Show |
19 | 52 | 0.3654 | 8 | c.144 others(25): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25811055 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00673.hp2 others(20): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0099 others(20): Show |
23 | 61 | 0.3770 | 8 | c.144 others(25): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25849064 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01069.hp2 HG01071.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(4): Show |
7 | 16 | 0.4375 | 8 | c.58- others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25855882 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0015 | a0001c0001t0011g0064 a0001c0001t0011g0067 a0001c0001t0015g0054 |
3 | 139 | 0.0216 | 8 | c.58- others(25): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25856363 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00621.hp1 others(56): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0008a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(15): Show | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 others(56): Show |
59 | 102 | 0.5784 | 8 | c.58- others(25): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ASXL3_chr18_33573219_33756195 | 33581472 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03516.hp1 |
a0002a0004 | a0002c0006a0004c0004 | a0002c0006t0007a0004c0004t0004 | a0002c0006t0007g0036 a0004c0004t0004g0214 |
2 | 159 | 0.0126 | 8 | c.54+ others(23): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33700241 | A | ATAGGAAT others(1): Show |
intron_variant | MODIFIER | HG02602.hp2 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0095 |
2 | 218 | 0.0092 | 8 | c.879 others(27): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASZ1_chr7_117358222_117432493 | 117370804 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02109.hp2 HG02258.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0076 others(7): Show |
11 | 97 | 0.1134 | 8 | c.105 others(27): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 10/12 | chr7 | TogoVar | |||||||
ASZ1_chr7_117358222_117432493 | 117379164 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0118 a0001c0001t0003g0135 a0001c0001t0003g0136 |
3 | 300 | 0.0100 | 8 | c.105 others(25): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 10/12 | chr7 | TogoVar | |||||||
ASZ1_chr7_117358222_117432493 | 117379168 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG02818.hp2 NA18948.hp1 NA19003.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0116 a0001c0001t0003g0010 a0001c0001t0003g0115 |
4 | 137 | 0.0292 | 8 | c.105 others(25): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 10/12 | chr7 | TogoVar | |||||||
ASZ1_chr7_117358222_117432493 | 117379168 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG03669.hp2 NA18967.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0156 a0002c0002t0002g0103 a0002c0002t0002g0143 others(2): Show |
5 | 138 | 0.0362 | 8 | c.105 others(25): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 10/12 | chr7 | TogoVar |