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 | 116914547 | T | TTTC | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp1 HG02698.hp2 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0004a0001c0001t0008a0001c0017t0002 | a0001c0001t0004g0059 a0001c0001t0008g0064 a0001c0017t0002g0089 |
3 | 71 | 0.0423 | 3 | c.189 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116925863 | C | CACA | intron_variant | MODIFIER | HG01934.hp1 HG02004.hp2 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0004a0001c0010t0004 | a0001c0002t0004g0091 a0001c0010t0004g0009 |
2 | 91 | 0.0220 | 3 | c.188 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116948785 | G | GTTT | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01256.hp2 others(14): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0028 a0001c0001t0003g0013 a0001c0001t0004g0059 others(14): Show |
17 | 22 | 0.7727 | 3 | c.188 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116951337 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01099.hp2 others(15): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(11): Show | a0001c0001t0001g0034 a0001c0001t0001g0053 a0001c0001t0003g0062 others(15): Show |
18 | 59 | 0.3051 | 3 | c.188 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116957049 | A | ATTT | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp2 HG02451.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0002g0018 others(7): Show |
10 | 73 | 0.1370 | 3 | c.188 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116961030 | A | AGGG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(91): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034 others(91): Show |
94 | 100 | 0.9400 | 3 | c.188 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116968898 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01099.hp1 others(16): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0004a0001c0001t0008a0001c0002t0001others(10): Show | a0001c0001t0004g0059 a0001c0001t0008g0064 a0001c0002t0001g0042 others(16): Show |
19 | 80 | 0.2375 | 3 | c.188 others(22): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116974506 | C | CTTT | intron_variant | MODIFIER | HG01081.hp2 HG01261.hp1 HG01496.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0002g0018 others(8): Show |
11 | 66 | 0.1667 | 3 | c.188 others(20): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116993877 | T | TATA | intron_variant | MODIFIER | NA21309.hp1 NA21309.hp2 |
a0001a0002 | a0001c0005a0002c0004 | a0001c0005t0005a0002c0004t0006 | a0001c0005t0005g0047 a0002c0004t0006g0003 |
2 | 100 | 0.0200 | 3 | c.159 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 7/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117005080 | A | ATTT | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG01258.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0004others(4): Show | a0001c0001t0004g0059 a0001c0002t0002g0052 a0001c0002t0002g0060 others(6): Show |
9 | 22 | 0.4091 | 3 | c.159 others(22): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 7/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016617 | T | TTAC | intron_variant | MODIFIER | HG00735.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0099 a0001c0007t0001g0011 |
2 | 100 | 0.0200 | 3 | c.142 others(22): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016619 | T | TAGG | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02886.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0011a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0100 a0001c0001t0006g0079 a0001c0001t0007g0087 others(3): Show |
6 | 96 | 0.0625 | 3 | c.142 others(22): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016622 | A | AGGT | intron_variant | MODIFIER | HG01099.hp2 HG02698.hp2 HG02922.hp2 others(3): Show |
a0001a0006 | a0001c0001a0001c0008a0006c0020 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0037 a0001c0001t0001g0095 a0001c0001t0003g0090 others(3): Show |
6 | 100 | 0.0600 | 3 | c.142 others(22): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016626 | A | AGGT | intron_variant | MODIFIER | HG00735.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0099 a0001c0007t0001g0011 |
2 | 100 | 0.0200 | 3 | c.142 others(22): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016628 | A | AGGT | intron_variant | MODIFIER | HG02451.hp2 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0002c0004t0001 | a0001c0001t0005g0077 a0002c0004t0001g0004 |
2 | 98 | 0.0204 | 3 | c.142 others(22): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016636 | A | AACC | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG03130.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0003others(2): Show | a0001c0001t0003g0013 a0001c0002t0001g0036 a0001c0002t0001g0056 others(3): Show |
6 | 100 | 0.0600 | 3 | c.142 others(22): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016638 | A | AACC | intron_variant | MODIFIER | HG01515.hp2 HG02698.hp1 NA19011.hp2 |
a0001a0003 | a0001c0002a0003c0016 | a0001c0002t0002a0001c0002t0003a0003c0016t0004 | a0001c0002t0002g0058 a0001c0002t0003g0041 a0003c0016t0004g0027 |
3 | 100 | 0.0300 | 3 | c.142 others(22): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016640 | A | AACC | intron_variant | MODIFIER | HG01261.hp2 NA20752.hp2 |
a0001a0004 | a0001c0002a0004c0018 | a0001c0002t0001a0004c0018t0003 | a0001c0002t0001g0093 a0004c0018t0003g0031 |
2 | 98 | 0.0204 | 3 | c.142 others(22): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016642 | A | AGGT | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01081.hp2 others(22): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0053 others(22): Show |
25 | 96 | 0.2604 | 3 | c.142 others(22): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016644 | A | AACC | intron_variant | MODIFIER | HG01081.hp1 HG02559.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0009 | a0001c0001t0002g0070 a0001c0001t0008g0008 a0001c0001t0009g0086 |
3 | 100 | 0.0300 | 3 | c.142 others(22): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117016646 | A | AGGT | intron_variant | MODIFIER | HG00735.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0099 a0001c0007t0001g0011 |
2 | 99 | 0.0202 | 3 | c.142 others(22): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117060415 | A | AAGG | intron_variant | MODIFIER | HG01243.hp2 HG03139.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0014others(2): Show | a0001c0001t0001g0099 a0001c0001t0003g0013 a0001c0003t0014g0083 others(2): Show |
5 | 58 | 0.0862 | 3 | c.127 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117116834 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01099.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(6): Show | a0001c0001t0001g0037 a0001c0001t0001g0099 a0001c0001t0001g0100 others(9): Show |
12 | 26 | 0.4615 | 3 | c.116 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117137024 | T | TCTG | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01081.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0034 a0001c0001t0001g0053 a0001c0001t0002g0040 others(7): Show |
10 | 100 | 0.1000 | 3 | c.116 others(22): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117148642 | A | ATCT | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG03130.hp1 |
a0001 | a0001c0001a0001c0003a0001c0021 | a0001c0001t0016a0001c0003t0001a0001c0021t0006 | a0001c0001t0016g0075 a0001c0003t0001g0054 a0001c0021t0006g0055 |
3 | 100 | 0.0300 | 3 | c.101 others(22): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117193639 | C | CAAA | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG02451.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0099 others(3): Show |
6 | 7 | 0.8571 | 3 | c.101 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117193959 | G | GTGT | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01099.hp1 others(27): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 others(27): Show |
30 | 100 | 0.3000 | 3 | c.101 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117200996 | C | CTTT | intron_variant | MODIFIER | HG01081.hp1 HG02809.hp2 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0015 a0001c0001t0001g0100 a0001c0001t0003g0013 others(1): Show |
4 | 42 | 0.0952 | 3 | c.101 others(24): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117226614 | T | TTTG | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG00735.hp2 others(33): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0037 others(33): Show |
36 | 100 | 0.3600 | 3 | c.631 others(22): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117252938 | A | ATGT | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG01169.hp1 others(24): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0002g0070 others(24): Show |
27 | 100 | 0.2700 | 3 | c.631 others(22): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117294880 | T | TGTC | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01243.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0028 a0001c0001t0002g0070 a0001c0001t0003g0013 others(11): Show |
14 | 100 | 0.1400 | 3 | c.443 others(20): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117411446 | C | CAAA | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0007a0001c0001t0009a0001c0003t0004others(4): Show | a0001c0001t0007g0087 a0001c0001t0009g0086 a0001c0003t0004g0085 others(4): Show |
7 | 60 | 0.1167 | 3 | c.442 others(20): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117414630 | C | CGCG | disruptive_inframe_insertion | MODERATE | HG03041.hp1 HG03471.hp2 NA20300.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002a0002c0004t0005others(1): Show | a0002c0004t0001g0004 a0002c0004t0002g0005 a0002c0004t0005g0006 others(1): Show |
4 | 100 | 0.0400 | 3 | c.306 others(10): Show |
p.Ala others(6): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/23 | 427/6878 | 308/4020 | 103/1339 | chr9 | TogoVar | |||
ASXL1_chr20_32353331_32444319 | 32359733 | G | GAGA | intron_variant | MODIFIER | NA18946.hp1 NA18946.hp2 NA18981.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0032 a0001c0001t0001g0034 a0002c0003t0001g0033 |
3 | 280 | 0.0107 | 3 | c.57+ others(16): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ASXL1_chr20_32353331_32444319 | 32361601 | G | GCAC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(206): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(21): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(36): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 others(205): Show |
209 | 280 | 0.7464 | 3 | c.57+ others(18): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ASXL1_chr20_32353331_32444319 | 32369718 | C | CTTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp1 others(71): Show |
a0001a0008a0010others(2): Show | a0001c0002a0008c0011a0010c0015others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(6): Show | a0001c0002t0001g0240 a0001c0002t0002g0014 a0001c0002t0002g0020 others(71): Show |
74 | 192 | 0.3854 | 3 | c.252 others(18): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32377127 | T | TATA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp1 others(146): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0002a0001c0005others(19): Show | a0001c0001t0016a0001c0001t0017a0001c0002t0001others(30): Show | a0001c0001t0016g0175 a0001c0001t0017g0013 a0001c0002t0001g0240 others(146): Show |
149 | 280 | 0.5321 | 3 | c.252 others(20): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32398392 | A | AACC | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp1 others(106): Show |
a0001a0003a0008others(4): Show | a0001c0002a0001c0017a0003c0004others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(12): Show | a0001c0002t0001g0240 a0001c0002t0001g0253 a0001c0002t0002g0014 others(106): Show |
109 | 280 | 0.3893 | 3 | c.252 others(22): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32401544 | G | GCTT | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02615.hp1 others(8): Show |
a0003 | a0003c0004a0003c0024 | a0003c0004t0003a0003c0004t0011a0003c0024t0011 | a0003c0004t0003g0017 a0003c0004t0003g0095 a0003c0004t0003g0096 others(8): Show |
11 | 25 | 0.4400 | 3 | c.253 others(22): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | chr20 | TogoVar | |||||||
ASXL1_chr20_32353331_32444319 | 32401544 | G | GTGT | intron_variant | MODIFIER | HG00544.hp1 HG02129.hp1 HG02896.hp1 others(3): Show |
a0001a0013 | a0001c0002a0001c0005a0013c0013 | a0001c0002t0002a0001c0005t0001a0013c0013t0002 | a0001c0002t0002g0194 a0001c0002t0002g0202 a0001c0002t0002g0207 others(3): Show |
6 | 20 | 0.3000 | 3 | c.253 others(22): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32401544 | G | GTTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00639.hp2 others(84): Show |
a0001a0005a0008others(2): Show | a0001c0001a0001c0002a0001c0017others(7): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0004g0061 a0001c0002t0001g0240 a0001c0002t0001g0253 others(84): Show |
87 | 101 | 0.8614 | 3 | c.253 others(22): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32411215 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(26): Show |
a0001 | a0001c0001a0001c0020 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0037 others(25): Show |
29 | 133 | 0.2180 | 3 | c.253 others(22): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32426541 | C | CTTT | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01106.hp1 others(23): Show |
a0001a0008a0011 | a0001c0002a0008c0011a0011c0023 | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(2): Show | a0001c0002t0001g0240 a0001c0002t0001g0253 a0001c0002t0002g0014 others(23): Show |
26 | 214 | 0.1215 | 3 | c.253 others(20): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25757674 | C | CAAA | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01074.hp1 others(17): Show |
a0001a0002a0010 | a0001c0001a0001c0011a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(7): Show | a0001c0001t0002g0029 a0001c0001t0003g0012 a0001c0001t0003g0033 others(17): Show |
20 | 47 | 0.4255 | 3 | c.940 others(20): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 9/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25779084 | A | ATTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00597.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0096 a0001c0001t0002g0009 a0001c0001t0002g0010 others(30): Show |
33 | 96 | 0.3438 | 3 | c.404 others(20): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 5/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25781670 | C | CTTT | intron_variant | MODIFIER | HG00423.hp2 HG00733.hp2 HG00735.hp2 others(22): Show |
a0001a0010 | a0001c0001a0001c0011a0010c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(12): Show | a0001c0001t0002g0052 a0001c0001t0003g0012 a0001c0001t0003g0013 others(22): Show |
25 | 154 | 0.1623 | 3 | c.404 others(22): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 5/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25781959 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00741.hp1 others(27): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0010a0001c0001t0039others(2): Show | a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0090 others(27): Show |
30 | 170 | 0.1765 | 3 | c.404 others(22): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 5/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25826762 | T | TAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(43): Show |
a0001a0003a0009 | a0001c0001a0001c0012a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0083 a0001c0001t0001g0116 a0001c0001t0001g0117 others(43): Show |
46 | 109 | 0.4220 | 3 | c.143 others(20): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25828824 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00733.hp2 others(37): Show |
a0001a0002a0010 | a0001c0001a0001c0011a0001c0012others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(13): Show | a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 others(37): Show |
40 | 140 | 0.2857 | 3 | c.143 others(20): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25849452 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0011others(9): Show | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0020 others(24): Show |
27 | 105 | 0.2571 | 3 | c.58- others(18): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar |