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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASTN1_chr1_176856067_177169712 | 177114420 | C | CATATAT | intron_variant | MODIFIER | HG01192.hp1 HG02257.hp2 HG02486.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0006others(1): Show | a0001c0002t0002a0001c0005t0004a0001c0006t0011others(1): Show | a0001c0002t0002g0108 a0001c0005t0004g0076 a0001c0005t0004g0077 others(2): Show |
5 | 107 | 0.0467 | 6 | c.283 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177121083 | C | CATATAT | intron_variant | MODIFIER | HG03130.hp1 HG03579.hp2 |
a0001a0002 | a0001c0002a0002c0007 | a0001c0002t0002a0002c0007t0001 | a0001c0002t0002g0032 a0002c0007t0001g0011 |
2 | 61 | 0.0328 | 6 | c.283 others(25): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
ASTN1_chr1_176856067_177169712 | 177158655 | C | CGTGTGT | intron_variant | MODIFIER | HG02258.hp2 HG02886.hp2 |
a0001 | a0001c0003a0001c0012 | a0001c0003t0002a0001c0012t0004 | a0001c0003t0002g0100 a0001c0012t0004g0010 |
2 | 49 | 0.0408 | 6 | c.283 others(23): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116446272 | T | TAGAGAG | intron_variant | MODIFIER | HG02809.hp1 HG03209.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0012a0001c0003t0014 | a0001c0001t0005g0035 a0001c0003t0012g0001 a0001c0003t0014g0083 |
3 | 9 | 0.3333 | 6 | c.349 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 20/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116502141 | A | ATGTGTG | intron_variant | MODIFIER | HG02615.hp2 NA19066.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0004 | a0001c0001t0002g0050 a0001c0009t0004g0032 |
2 | 76 | 0.0263 | 6 | c.335 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116545664 | G | GACCAAT | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01109.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0095 others(19): Show |
22 | 100 | 0.2200 | 6 | c.335 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116552014 | C | CACATAT | intron_variant | MODIFIER | HG01243.hp2 HG03130.hp2 |
a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0073 a0001c0008t0005g0081 |
2 | 82 | 0.0244 | 6 | c.335 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116563376 | A | AAAAAAT | intron_variant | MODIFIER | HG00735.hp2 HG01256.hp2 HG01258.hp1 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0002g0040 others(23): Show |
26 | 78 | 0.3333 | 6 | c.335 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116565351 | T | TTCTCTC | intron_variant | MODIFIER | HG00099.hp1 HG01934.hp2 HG02109.hp1 others(2): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0015a0001c0002t0004others(2): Show | a0001c0001t0003g0062 a0001c0001t0015g0045 a0001c0002t0004g0029 others(2): Show |
5 | 82 | 0.0610 | 6 | c.335 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116578618 | A | ACGCGCG | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG03209.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0016a0001c0003t0012others(2): Show | a0001c0001t0001g0028 a0001c0001t0016g0075 a0001c0003t0012g0001 others(2): Show |
5 | 97 | 0.0515 | 6 | c.335 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116578619 | C | CGTGTGT | intron_variant | MODIFIER | HG01496.hp2 HG02698.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0002t0003 | a0001c0001t0015g0045 a0001c0002t0003g0041 a0001c0002t0003g0066 |
3 | 20 | 0.1500 | 6 | c.335 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116595332 | C | CTGTTGT | intron_variant | MODIFIER | HG01243.hp1 HG01515.hp1 HG01891.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0002g0018 a0001c0002t0001g0057 a0001c0002t0002g0046 others(3): Show |
6 | 40 | 0.1500 | 6 | c.335 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116609322 | C | CTATATA | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02451.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0016a0001c0003t0001others(4): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0016g0075 others(5): Show |
8 | 85 | 0.0941 | 6 | c.335 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116609326 | C | CTATATA | intron_variant | MODIFIER | HG02965.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0017 | a0001c0001t0001g0095 a0001c0014t0017g0049 |
2 | 33 | 0.0606 | 6 | c.335 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116632128 | A | AAGAGAG | intron_variant | MODIFIER | HG01169.hp2 NA18959.hp1 NA19010.hp1 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0002t0004a0001c0010t0001 | a0001c0002t0001g0042 a0001c0002t0004g0092 a0001c0010t0001g0102 |
3 | 50 | 0.0600 | 6 | c.307 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116642132 | C | CCAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01169.hp1 HG01243.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0099 others(9): Show |
12 | 35 | 0.3429 | 6 | c.307 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 17/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116660168 | G | GCACACA | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG00735.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0002others(8): Show | a0001c0001t0002g0040 a0001c0001t0006g0016 a0001c0002t0002g0023 others(11): Show |
14 | 33 | 0.4242 | 6 | c.280 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116718972 | G | GTGTATA | intron_variant | MODIFIER | HG01169.hp1 HG01243.hp2 HG01884.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0034 a0001c0001t0001g0099 a0001c0001t0006g0016 others(7): Show |
10 | 38 | 0.2632 | 6 | c.280 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116718975 | C | CATATAT | intron_variant | MODIFIER | HG00735.hp2 HG01256.hp2 HG01258.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0008a0001c0002t0002others(5): Show | a0001c0001t0002g0040 a0001c0001t0008g0008 a0001c0001t0008g0064 others(8): Show |
11 | 21 | 0.5238 | 6 | c.280 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116737467 | A | ATGTGTG | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0028 a0001c0001t0004g0059 a0001c0001t0009g0086 |
3 | 34 | 0.0882 | 6 | c.239 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116737610 | C | CGTGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00735.hp2 others(24): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0028 a0001c0001t0001g0099 a0001c0001t0002g0040 others(24): Show |
27 | 40 | 0.6750 | 6 | c.239 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116756770 | A | AACACAC | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0002g0070 others(25): Show |
28 | 44 | 0.6364 | 6 | c.239 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116777876 | G | GTCTTAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(92): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034 others(92): Show |
95 | 100 | 0.9500 | 6 | c.239 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116791027 | G | GAAAGAA | intron_variant | MODIFIER | HG01243.hp2 HG03041.hp1 |
a0001a0002 | a0001c0008a0002c0004 | a0001c0008t0005a0002c0004t0002 | a0001c0008t0005g0073 a0002c0004t0002g0005 |
2 | 99 | 0.0202 | 6 | c.239 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116805109 | A | AGTGTGT | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01243.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(17): Show | a0001c0001t0002g0040 a0001c0001t0005g0077 a0001c0001t0006g0014 others(20): Show |
23 | 32 | 0.7188 | 6 | c.239 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116839859 | C | CATTATT | intron_variant | MODIFIER | HG02698.hp2 HG02809.hp1 HG03471.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0005g0035 a0001c0001t0006g0016 a0001c0001t0008g0064 others(3): Show |
6 | 77 | 0.0779 | 6 | c.204 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116839881 | A | ATTATTT | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01099.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0034 a0001c0001t0003g0062 a0001c0001t0003g0090 others(5): Show |
8 | 77 | 0.1039 | 6 | c.204 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116852878 | T | TACACAC | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0006a0001c0001t0008a0001c0001t0015others(12): Show | a0001c0001t0006g0016 a0001c0001t0008g0064 a0001c0001t0015g0045 others(15): Show |
18 | 22 | 0.8182 | 6 | c.204 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116861214 | T | TACACAC | intron_variant | MODIFIER | HG01243.hp1 HG03239.hp2 NA20129.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0003a0001c0003t0007 | a0001c0002t0002g0060 a0001c0002t0003g0068 a0001c0003t0007g0074 |
3 | 31 | 0.0968 | 6 | c.204 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116862807 | T | TACACAC | intron_variant | MODIFIER | HG00735.hp1 HG02698.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0003a0001c0007t0001 | a0001c0002t0003g0041 a0001c0007t0001g0011 |
2 | 76 | 0.0263 | 6 | c.204 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116906666 | C | CTTGTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(63): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0053 others(63): Show |
66 | 100 | 0.6600 | 6 | c.189 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116914547 | T | TTTATTA | intron_variant | MODIFIER | HG00099.hp2 HG01256.hp1 HG01261.hp1 others(8): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0001g0053 a0001c0001t0006g0079 a0001c0001t0007g0078 others(8): Show |
11 | 79 | 0.1392 | 6 | c.189 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116925863 | C | CACACAA | intron_variant | MODIFIER | HG00099.hp2 HG01261.hp2 HG02451.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(4): Show | a0001c0001t0001g0028 a0001c0001t0005g0096 a0001c0002t0001g0042 others(6): Show |
9 | 98 | 0.0918 | 6 | c.188 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116948698 | A | AGTGTGT | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01099.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0004a0001c0001t0008a0001c0002t0002others(3): Show | a0001c0001t0004g0059 a0001c0001t0008g0064 a0001c0002t0002g0060 others(3): Show |
6 | 24 | 0.2500 | 6 | c.188 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116964256 | T | TGCGCGC | intron_variant | MODIFIER | HG02615.hp1 HG02886.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0003a0001c0012 | a0001c0003t0004a0001c0003t0007a0001c0012t0001 | a0001c0003t0004g0085 a0001c0003t0007g0071 a0001c0003t0007g0074 others(1): Show |
4 | 82 | 0.0488 | 6 | c.188 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116993853 | G | GATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01099.hp2 others(15): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0034 a0001c0001t0002g0040 a0001c0001t0003g0062 others(15): Show |
18 | 46 | 0.3913 | 6 | c.159 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 7/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117108438 | A | AACACAC | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp1 HG01109.hp1 others(8): Show |
a0001a0003a0004 | a0001c0002a0001c0003a0001c0009others(5): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(8): Show | a0001c0002t0001g0093 a0001c0002t0003g0022 a0001c0002t0004g0061 others(8): Show |
11 | 28 | 0.3929 | 6 | c.116 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117109357 | A | AATAAAT | intron_variant | MODIFIER | HG01099.hp2 HG01934.hp2 HG02896.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0008a0001c0002t0001others(4): Show | a0001c0001t0003g0090 a0001c0001t0008g0008 a0001c0002t0001g0033 others(5): Show |
8 | 87 | 0.0920 | 6 | c.116 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117116037 | C | CATATAT | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01099.hp1 others(23): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0034 a0001c0001t0002g0050 a0001c0001t0005g0035 others(23): Show |
26 | 64 | 0.4063 | 6 | c.116 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117120012 | G | GTATATA | intron_variant | MODIFIER | HG01169.hp2 HG01256.hp2 HG01258.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0023 a0001c0002t0002g0046 a0001c0002t0002g0052 others(1): Show |
4 | 88 | 0.0455 | 6 | c.116 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117165177 | A | ATCCCTC | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01496.hp2 others(15): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0037 a0001c0001t0001g0095 a0001c0001t0003g0013 others(15): Show |
18 | 100 | 0.1800 | 6 | c.101 others(27): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 3/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117230185 | G | GAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01109.hp2 others(18): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0015 a0001c0001t0002g0018 a0001c0001t0004g0059 others(18): Show |
21 | 76 | 0.2763 | 6 | c.631 others(25): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117298670 | G | GTATATA | intron_variant | MODIFIER | HG00639.hp2 HG01169.hp1 HG01261.hp1 others(8): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(7): Show | a0001c0001t0001g0034 a0001c0001t0006g0014 a0001c0001t0008g0008 others(8): Show |
11 | 25 | 0.4400 | 6 | c.443 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117406857 | A | AACACAC | intron_variant | MODIFIER | HG01258.hp2 HG03041.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0002 | a0001c0002t0001g0067 a0002c0004t0002g0005 |
2 | 19 | 0.1053 | 6 | c.442 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | |||||||
ASXL1_chr20_32353331_32444319 | 32378158 | T | TTGTGTG | intron_variant | MODIFIER | HG00642.hp1 HG01169.hp2 HG01257.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0019a0003c0004 | a0001c0001t0001a0001c0019t0012a0003c0004t0003 | a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0042 others(8): Show |
11 | 100 | 0.1100 | 6 | c.252 others(23): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32397250 | C | CTTTTTT | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp2 HG02135.hp2 others(10): Show |
a0001a0008a0011 | a0001c0002a0008c0011a0011c0023 | a0001c0002t0002a0001c0002t0005a0008c0011t0002others(1): Show | a0001c0002t0002g0026 a0001c0002t0002g0212 a0001c0002t0002g0222 others(10): Show |
13 | 50 | 0.2600 | 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 | 32428652 | C | CTTTTTT | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 others(2): Show |
5 | 111 | 0.0450 | 6 | c.471 others(21): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25744935 | C | CCACACA | intron_variant | MODIFIER | HG01952.hp2 HG02129.hp1 HG02602.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(2): Show | a0001c0001t0001g0204 a0001c0001t0002g0046 a0001c0001t0014g0019 others(3): Show |
6 | 62 | 0.0968 | 6 | c.186 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 12/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25757674 | C | CAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp2 HG01106.hp1 others(13): Show |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0002a0001c0001t0009a0001c0001t0011others(7): Show | a0001c0001t0002g0011 a0001c0001t0002g0020 a0001c0001t0002g0047 others(13): Show |
16 | 43 | 0.3721 | 6 | c.940 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 9/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25807986 | T | TACACAC | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(6): Show | a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0135 others(22): Show |
25 | 58 | 0.4310 | 6 | c.144 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar |