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 | 116660168 | GCACACA | G | intron_variant | MODIFIER | HG00639.hp1 HG02109.hp1 HG02451.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0100 others(9): Show |
12 | 31 | 0.3871 | -6 | c.280 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116727013 | AACACAC | A | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01081.hp2 others(20): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0003g0090 a0001c0001t0004g0059 a0001c0001t0005g0035 others(20): Show |
23 | 38 | 0.6053 | -6 | c.262 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 15/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116731178 | GTAATAA | G | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01261.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0006a0001c0001t0008a0001c0001t0016others(13): Show | a0001c0001t0006g0016 a0001c0001t0008g0008 a0001c0001t0016g0075 others(14): Show |
17 | 26 | 0.6538 | -6 | c.252 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 14/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116737467 | ATGTGTG | A | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG02559.hp1 others(12): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 others(12): Show |
15 | 46 | 0.3261 | -6 | c.239 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116737610 | CGTGTGT | C | intron_variant | MODIFIER | HG01099.hp2 HG01261.hp2 HG01496.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0003a0001c0002t0004others(2): Show | a0001c0001t0003g0090 a0001c0002t0003g0041 a0001c0002t0003g0066 others(3): Show |
6 | 19 | 0.3158 | -6 | c.239 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116801585 | CAAAAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0016others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0009g0086 others(4): Show |
7 | 16 | 0.4375 | -6 | c.239 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116802083 | CTTTTTT | C | intron_variant | MODIFIER | HG01081.hp1 HG01261.hp1 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0002g0070 others(12): Show |
15 | 34 | 0.4412 | -6 | c.239 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116803481 | AATATAT | A | intron_variant | MODIFIER | HG00735.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0040 a0001c0001t0006g0014 |
2 | 97 | 0.0206 | -6 | c.239 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116808277 | TTGTGTG | T | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01109.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0037 a0001c0001t0001g0099 a0001c0001t0001g0100 others(27): Show |
30 | 46 | 0.6522 | -6 | c.220 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 12/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116841370 | AGAGAGG | A | intron_variant | MODIFIER | HG02965.hp2 HG03471.hp2 |
a0001a0002 | a0001c0014a0002c0004 | a0001c0014t0017a0002c0004t0001 | a0001c0014t0017g0049 a0002c0004t0001g0004 |
2 | 97 | 0.0206 | -6 | c.204 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116847021 | AAAAAAC | A | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01109.hp2 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0100 a0001c0001t0002g0050 a0001c0001t0003g0013 others(21): Show |
24 | 98 | 0.2449 | -6 | c.204 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116852878 | TACACAC | T | intron_variant | MODIFIER | NA18906.hp2 NA19010.hp2 |
a0001a0007 | a0001c0012a0007c0015 | a0001c0012t0001a0007c0015t0003 | a0001c0012t0001g0098 a0007c0015t0003g0019 |
2 | 6 | 0.3333 | -6 | c.204 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116861214 | TACACAC | T | intron_variant | MODIFIER | HG01169.hp1 HG01258.hp2 HG02109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(5): Show | a0001c0001t0001g0034 a0001c0001t0001g0095 a0001c0001t0006g0014 others(7): Show |
10 | 38 | 0.2632 | -6 | c.204 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116862837 | CACACAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0037 others(48): Show |
51 | 100 | 0.5100 | -6 | c.204 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116865423 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01099.hp2 others(18): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(12): Show | a0001c0001t0001g0053 a0001c0001t0003g0062 a0001c0001t0003g0090 others(18): Show |
21 | 22 | 0.9545 | -6 | c.189 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116889720 | TACACAC | T | intron_variant | MODIFIER | HG02698.hp1 HG03471.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0003a0002c0004t0001 | a0001c0002t0003g0041 a0002c0004t0001g0004 |
2 | 12 | 0.1667 | -6 | c.189 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116893159 | TCACACA | T | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01515.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0037 a0001c0001t0001g0100 a0001c0001t0002g0018 others(19): Show |
22 | 55 | 0.4000 | -6 | c.189 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116933979 | CTTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG02451.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0005g0077 a0001c0002t0001g0033 a0001c0002t0003g0094 others(1): Show |
4 | 15 | 0.2667 | -6 | c.188 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117020002 | CTGTGTG | C | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01109.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0002g0070 others(15): Show |
18 | 30 | 0.6000 | -6 | c.142 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117032068 | TGTAACA | T | intron_variant | MODIFIER | HG02615.hp2 HG02809.hp1 HG03041.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0002g0050 a0001c0001t0005g0035 a0001c0001t0006g0016 others(1): Show |
4 | 100 | 0.0400 | -6 | c.142 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 6/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117120018 | GTATATA | G | intron_variant | MODIFIER | HG02451.hp2 HG03041.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0005a0001c0001t0006a0001c0001t0015others(1): Show | a0001c0001t0005g0077 a0001c0001t0006g0014 a0001c0001t0006g0079 others(2): Show |
5 | 44 | 0.1136 | -6 | c.116 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117128371 | CAAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01099.hp1 others(34): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034 others(34): Show |
37 | 42 | 0.8810 | -6 | c.116 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117134266 | TTATATA | T | intron_variant | MODIFIER | HG02572.hp1 NA19011.hp2 |
a0001 | a0001c0002a0001c0013 | a0001c0002t0002a0001c0013t0009 | a0001c0002t0002g0058 a0001c0013t0009g0072 |
2 | 76 | 0.0263 | -6 | c.116 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117134295 | TACACAC | T | intron_variant | MODIFIER | HG01261.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0015a0001c0005t0005 | a0001c0001t0015g0045 a0001c0005t0005g0076 |
2 | 69 | 0.0290 | -6 | c.116 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117144660 | GTTTTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG01243.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0003g0090 others(14): Show |
17 | 21 | 0.8095 | -6 | c.101 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117155504 | GAGAGAC | G | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01496.hp2 others(18): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0003g0013 others(18): Show |
21 | 100 | 0.2100 | -6 | c.101 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117225535 | GTATATA | G | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01934.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0010 | a0001c0002t0002g0023 a0001c0002t0002g0052 a0001c0002t0004g0091 others(1): Show |
4 | 22 | 0.1818 | -6 | c.631 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117242004 | CTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01261.hp1 others(12): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0015 a0001c0001t0002g0018 a0001c0001t0006g0014 others(12): Show |
15 | 20 | 0.7500 | -6 | c.631 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117298702 | ATGTGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01099.hp2 others(18): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0002g0040 a0001c0001t0003g0090 a0001c0001t0006g0016 others(18): Show |
21 | 70 | 0.3000 | -6 | c.443 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117358261 | GACACAC | G | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp1 HG01261.hp2 others(12): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0002others(11): Show | a0001c0001t0001g0037 a0001c0001t0007g0087 a0001c0002t0002g0058 others(12): Show |
15 | 24 | 0.6250 | -6 | c.442 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117364950 | AACACAC | A | intron_variant | MODIFIER | HG00735.hp2 HG01884.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0003t0004others(4): Show | a0001c0001t0002g0040 a0001c0001t0007g0087 a0001c0003t0004g0085 others(4): Show |
7 | 51 | 0.1373 | -6 | c.442 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117374369 | TAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01081.hp2 others(10): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0002others(9): Show | a0001c0001t0003g0062 a0001c0001t0004g0059 a0001c0002t0002g0058 others(10): Show |
13 | 32 | 0.4063 | -6 | c.442 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117406857 | AACACAC | A | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01891.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0015 a0001c0001t0001g0100 a0001c0001t0002g0050 others(12): Show |
15 | 32 | 0.4688 | -6 | c.442 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | |||||||
ASXL1_chr20_32353331_32444319 | 32379161 | CTTTTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02083.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0004a0004c0006t0008 | a0001c0001t0001g0063 a0001c0001t0001g0076 a0001c0001t0001g0081 others(3): Show |
6 | 27 | 0.2222 | -6 | 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 | 32393040 | TATAGAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp1 others(95): Show |
a0001a0008a0010others(3): Show | a0001c0002a0001c0017a0008c0011others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(9): Show | a0001c0002t0001g0240 a0001c0002t0001g0253 a0001c0002t0002g0014 others(95): Show |
98 | 280 | 0.3500 | -6 | 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 | 32411041 | AAAAAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(38): Show |
a0001a0003 | a0001c0001a0001c0018a0001c0020others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0016 others(37): Show |
41 | 280 | 0.1464 | -6 | c.253 others(25): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32415933 | GAAAACA | G | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG02572.hp1 others(3): Show |
a0005 | a0005c0009a0005c0021 | a0005c0009t0003a0005c0021t0003 | a0005c0009t0003g0176 a0005c0009t0003g0177 a0005c0009t0003g0178 others(3): Show |
6 | 280 | 0.0214 | -6 | c.253 others(25): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25744935 | CCACACA | C | intron_variant | MODIFIER | HG02451.hp1 HG03491.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0013 | a0001c0001t0001g0124 a0001c0001t0012g0163 a0001c0001t0013g0031 |
3 | 59 | 0.0508 | -6 | c.186 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 12/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25781960 | TTTTTTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp2 others(36): Show |
a0001a0010 | a0001c0001a0001c0011a0001c0012others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(10): Show | a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 others(36): Show |
39 | 220 | 0.1773 | -6 | c.404 others(25): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 5/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25801604 | GAAATAT | G | intron_variant | MODIFIER | HG02109.hp1 HG02602.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019 | a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0215 others(5): Show |
8 | 220 | 0.0364 | -6 | c.253 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25807986 | TACACAC | T | intron_variant | MODIFIER | HG01255.hp1 HG02109.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0013 | a0001c0001t0001g0221 a0001c0001t0012g0159 a0001c0001t0013g0031 |
3 | 36 | 0.0833 | -6 | c.144 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25811055 | TACACAC | T | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 NA18951.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(1): Show | a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 others(3): Show |
6 | 44 | 0.1364 | -6 | c.144 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25828515 | AAAAAAT | A | intron_variant | MODIFIER | HG01081.hp2 HG01433.hp1 HG01496.hp1 others(8): Show |
a0002a0006 | a0002c0002a0002c0003a0006c0013 | a0002c0002t0006a0002c0002t0021a0002c0003t0008others(1): Show | a0002c0002t0006g0055 a0002c0002t0006g0056 a0002c0002t0006g0061 others(8): Show |
11 | 220 | 0.0500 | -6 | c.143 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25842788 | GTGTGTA | G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02055.hp1 others(11): Show |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0001a0001c0001t0011a0001c0001t0039others(3): Show | a0001c0001t0001g0085 a0001c0001t0001g0104 a0001c0001t0001g0106 others(11): Show |
14 | 220 | 0.0636 | -6 | c.140 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ASXL3_chr18_33573219_33756195 | 33578458 | CCCGCCG | C | 5_prime_UTR_variant | MODIFIER | HG03453.hp1 HG03704.hp2 NA18906.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0014a0001c0001t0042a0002c0002t0004 | a0001c0001t0014g0179 a0001c0001t0042g0182 a0002c0002t0004g0180 others(1): Show |
4 | 46 | 0.0870 | -6 | c.-13 others(15): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/12 | 133 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ASXL3_chr18_33573219_33756195 | 33616398 | CTGTGTG | C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp2 others(31): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0040 a0001c0001t0001g0156 a0001c0001t0001g0160 others(31): Show |
34 | 79 | 0.4304 | -6 | c.137 others(23): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33636329 | ACAACAG | A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp2 others(31): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0040 a0001c0001t0001g0156 a0001c0001t0001g0160 others(31): Show |
34 | 218 | 0.1560 | -6 | c.138 others(23): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33713237 | TGTTTTG | T | intron_variant | MODIFIER | HG01361.hp1 HG02129.hp2 HG02258.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0001g0049 a0001c0001t0001g0121 a0001c0001t0001g0131 others(5): Show |
8 | 193 | 0.0415 | -6 | c.880 others(25): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 8/11 | chr18 | TogoVar | |||||||
ASZ1_chr7_117358222_117432493 | 117368376 | GTTTAAT | G | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02109.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 a0001c0001t0003g0113 a0001c0001t0003g0114 others(16): Show |
20 | 304 | 0.0658 | -6 | c.116 others(23): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 11/12 | chr7 | TogoVar | |||||||
ASZ1_chr7_117358222_117432493 | 117370804 | TTGTGTG | T | intron_variant | MODIFIER | HG01496.hp1 HG01891.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0189 |
3 | 89 | 0.0337 | -6 | c.105 others(25): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 10/12 | chr7 | TogoVar |