regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 116718972 | G | GTGTATA | intron_variant | MODIFIER | HG01169.hp1 HG01243.hp2 HG01884.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0034a0001c0001t0001g0099a0001c0001t0006g0016others(7): Show | 10 | 102 | 0.0980 | 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 | a0001c0001t0002g0040a0001c0001t0008g0008a0001c0001t0008g0065others(8): Show | 11 | 102 | 0.1078 | 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 | a0001c0001t0001g0028a0001c0001t0004g0060a0001c0001t0009g0086 | 3 | 102 | 0.0294 | 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 | a0001c0001t0001g0028a0001c0001t0001g0099a0001c0001t0002g0040others(24): Show | 27 | 102 | 0.2647 | 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 | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0002g0070others(25): Show | 28 | 102 | 0.2745 | 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(93): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0001g0034others(93): Show | 96 | 102 | 0.9412 | 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 | a0001c0008t0005g0073a0002c0004t0002g0005 | 2 | 102 | 0.0196 | 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 | a0001c0001t0002g0040a0001c0001t0005g0077a0001c0001t0006g0014others(20): Show | 23 | 102 | 0.2255 | 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 | a0001c0001t0005g0035a0001c0001t0006g0016a0001c0001t0008g0065others(3): Show | 6 | 102 | 0.0588 | 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 | a0001c0001t0001g0034a0001c0001t0003g0063a0001c0001t0003g0090others(5): Show | 8 | 102 | 0.0784 | 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(16): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0006a0001c0001t0008a0001c0001t0015others(13): Show | a0001c0001t0006g0016a0001c0001t0008g0065a0001c0001t0015g0045others(16): Show | 19 | 102 | 0.1863 | 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 | a0001c0002t0002g0061a0001c0002t0003g0068a0001c0003t0007g0074 | 3 | 102 | 0.0294 | 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 | a0001c0002t0003g0041a0001c0007t0001g0011 | 2 | 102 | 0.0196 | 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(64): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0028a0001c0001t0001g0034a0001c0001t0001g0054others(64): Show | 67 | 102 | 0.6569 | 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 |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0001g0054a0001c0001t0006g0079a0001c0001t0007g0078others(8): Show | 11 | 102 | 0.1078 | 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 |
a0001a0007 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(4): Show | a0001c0001t0001g0028a0001c0001t0005g0096a0001c0002t0001g0042others(6): Show | 9 | 102 | 0.0882 | 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 | a0001c0001t0004g0060a0001c0001t0008g0065a0001c0002t0002g0061others(3): Show | 6 | 102 | 0.0588 | 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 | a0001c0003t0004g0085a0001c0003t0007g0071a0001c0003t0007g0074others(1): Show | 4 | 102 | 0.0392 | 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(16): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0034a0001c0001t0002g0040a0001c0001t0003g0063others(16): Show | 19 | 102 | 0.1863 | 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(9): Show |
a0001a0003a0007 | a0001c0002a0001c0003a0001c0009others(5): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(8): Show | a0001c0002t0001g0093a0001c0002t0003g0022a0001c0002t0004g0047others(9): Show | 12 | 102 | 0.1177 | 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 | a0001c0001t0003g0090a0001c0001t0008g0008a0001c0002t0001g0033others(5): Show | 8 | 102 | 0.0784 | 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(24): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0034a0001c0001t0002g0051a0001c0001t0005g0035others(24): Show | 27 | 102 | 0.2647 | 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 | a0001c0002t0002g0023a0001c0002t0002g0046a0001c0002t0002g0053others(1): Show | 4 | 102 | 0.0392 | 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 |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0037a0001c0001t0001g0095a0001c0001t0003g0013others(15): Show | 18 | 102 | 0.1765 | 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 |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0015a0001c0001t0002g0018a0001c0001t0004g0060others(18): Show | 21 | 102 | 0.2059 | 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 |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(7): Show | a0001c0001t0001g0034a0001c0001t0006g0014a0001c0001t0008g0008others(8): Show | 11 | 102 | 0.1078 | 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 | a0001c0002t0001g0067a0002c0004t0002g0005 | 2 | 102 | 0.0196 | 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 | a0001c0001t0001g0018a0001c0001t0001g0040a0001c0001t0001g0041others(8): Show | 11 | 282 | 0.0390 | 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 |
a0001a0008a0014 | a0001c0002a0008c0011a0014c0023 | a0001c0002t0002a0001c0002t0005a0008c0011t0002others(1): Show | a0001c0002t0002g0025a0001c0002t0002g0213a0001c0002t0002g0223others(10): Show | 13 | 282 | 0.0461 | 6 | 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 | 25744935 | C | CCACACA | intron_variant | MODIFIER | HG01952.hp2 HG02129.hp1 HG02602.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(2): Show | a0001c0001t0001g0204a0001c0001t0002g0046a0001c0001t0014g0020others(3): Show | 6 | 222 | 0.0270 | 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 |
a0001a0009 | a0001c0001a0009c0013 | a0001c0001t0002a0001c0001t0009a0001c0001t0011others(7): Show | a0001c0001t0002g0011a0001c0001t0002g0021a0001c0001t0002g0047others(13): Show | 16 | 222 | 0.0721 | 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 | a0001c0001t0001g0109a0001c0001t0001g0114a0001c0001t0001g0135others(22): Show | 25 | 222 | 0.1126 | 6 | c.144 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25811055 | T | TACACAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(35): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0110others(35): Show | 38 | 222 | 0.1712 | 6 | c.144 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25843814 | T | TAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00597.hp2 others(63): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0011a0001c0012others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0011others(63): Show | 66 | 222 | 0.2973 | 6 | c.140 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25849064 | C | CATATAT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(38): Show |
a0001a0004a0008 | a0001c0001a0004c0004a0008c0009 | a0001c0001t0001a0001c0001t0007a0001c0001t0029others(6): Show | a0001c0001t0001g0083a0001c0001t0001g0085a0001c0001t0001g0086others(38): Show | 41 | 222 | 0.1847 | 6 | c.58- others(21): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25856363 | C | CTTTTTT | intron_variant | MODIFIER | HG00733.hp1 HG01081.hp2 HG01169.hp1 others(21): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0014others(8): Show | a0001c0001t0002g0011a0001c0001t0002g0021a0001c0001t0011g0064others(21): Show | 24 | 222 | 0.1081 | 6 | c.58- others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33578458 | C | CCCGCCG | 5_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02129.hp1 HG02145.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0006a0003c0003 | a0001c0001t0014a0001c0001t0026a0001c0001t0027others(4): Show | a0001c0001t0014g0199a0001c0001t0014g0201a0001c0001t0014g0212others(10): Show | 13 | 220 | 0.0591 | 6 | c.-13 others(15): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/12 | 132 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
ASXL3_chr18_33573219_33756195 | 33581472 | A | AGTGTGT | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp2 HG02572.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0017a0001c0001t0026a0001c0001t0027others(10): Show | a0001c0001t0017g0008a0001c0001t0026g0035a0001c0001t0027g0034others(13): Show | 16 | 220 | 0.0727 | 6 | c.54+ others(21): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ASXL3_chr18_33573219_33756195 | 33612184 | C | CATATAT | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp2 others(32): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0041a0001c0001t0001g0157a0001c0001t0002g0159others(32): Show | 35 | 220 | 0.1591 | 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 | 33636305 | T | TCAACAA | intron_variant | MODIFIER | HG03486.hp2 NA21309.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0038a0003c0003t0066 | a0001c0001t0038g0183a0003c0003t0066g0216 | 2 | 220 | 0.0091 | 6 | c.138 others(23): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ASZ1_chr7_117358222_117432493 | 117370804 | T | TTGTGTG | intron_variant | MODIFIER | HG01175.hp2 HG01433.hp2 HG02280.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0014a0001c0001t0001g0023a0001c0001t0001g0024others(8): Show | 11 | 306 | 0.0360 | 6 | c.105 others(25): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 10/12 | chr7 | TogoVar | ||||||
ASZ1_chr7_117358222_117432493 | 117379168 | T | TATATAC | intron_variant | MODIFIER | HG02074.hp1 HG03098.hp1 NA18747.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0237a0002c0002t0002g0079a0002c0002t0002g0142others(5): Show | 8 | 306 | 0.0261 | 6 | c.105 others(23): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 10/12 | chr7 | TogoVar | ||||||
ASZ1_chr7_117358222_117432493 | 117380783 | A | AAAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(190): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(182): Show | 193 | 306 | 0.6307 | 6 | c.945 others(21): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 9/12 | chr7 | TogoVar | ||||||
ASZ1_chr7_117358222_117432493 | 117412039 | A | AGTGTGT | intron_variant | MODIFIER | HG01358.hp1 HG02559.hp2 HG02809.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0017a0001c0001t0001g0065a0001c0001t0001g0198others(6): Show | 9 | 306 | 0.0294 | 6 | c.440 others(23): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
ASZ1_chr7_117358222_117432493 | 117412040 | G | GTGTGTA | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01069.hp2 others(15): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0002a0004c0005t0002 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0012others(12): Show | 18 | 306 | 0.0588 | 6 | c.440 others(23): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
ATAD1_chr10_87746512_87823226 | 87798625 | G | GGTGTGT | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG02155.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0002 | a0001c0001t0002g0004a0001c0001t0002g0144a0001c0001t0002g0157others(14): Show | 19 | 360 | 0.0528 | 6 | c.163 others(23): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
ATAD1_chr10_87746512_87823226 | 87819263 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(14): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0023a0001c0001t0003g0059a0001c0001t0003g0070others(13): Show | 17 | 360 | 0.0472 | 6 | c.-11 others(17): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 1038 | chr10 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23760697 | T | TACACAC | intron_variant | MODIFIER | HG01361.hp2 HG01934.hp1 HG02129.hp1 others(6): Show |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0100a0001c0001t0002g0017a0001c0001t0002g0020others(6): Show | 9 | 246 | 0.0366 | 6 | c.339 others(25): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 24/27 | chr2 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23777348 | A | ATATATC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(96): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0066a0001c0001t0001g0073a0001c0001t0001g0100others(96): Show | 99 | 246 | 0.4024 | 6 | c.313 others(25): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 22/27 | chr2 | TogoVar | ||||||
ATAD2B_chr2_23743664_23932123 | 23780267 | T | TTGTGTG | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01516.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(5): Show | 8 | 246 | 0.0325 | 6 | c.313 others(25): Show |
ATAD2B | ENSG00000119778.15 | transcript | ENST00000238789.10 | protein_coding | 22/27 | chr2 | TogoVar |