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 | 117016640 | A | AACC | intron_variant | MODIFIER | HG01261.hp2 NA20752.hp2 |
a0001a0007 | a0001c0002a0007c0018 | a0001c0002t0001a0007c0018t0003 | a0001c0002t0001g0093a0007c0018t0003g0031 | 2 | 102 | 0.0196 | 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 |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0054others(22): Show | 25 | 102 | 0.2451 | 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 | a0001c0001t0002g0070a0001c0001t0008g0008a0001c0001t0009g0086 | 3 | 102 | 0.0294 | 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 | a0001c0001t0001g0099a0001c0007t0001g0011 | 2 | 102 | 0.0196 | 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 | a0001c0001t0001g0099a0001c0001t0003g0013a0001c0003t0014g0083others(2): Show | 5 | 102 | 0.0490 | 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(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(6): Show | a0001c0001t0001g0037a0001c0001t0001g0099a0001c0001t0001g0100others(10): Show | 13 | 102 | 0.1275 | 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(8): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0034a0001c0001t0001g0054a0001c0001t0002g0040others(8): Show | 11 | 102 | 0.1078 | 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 | a0001c0001t0016g0075a0001c0003t0001g0055a0001c0021t0006g0056 | 3 | 102 | 0.0294 | 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 | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0001g0099others(3): Show | 6 | 102 | 0.0588 | 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 |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0001g0095a0001c0001t0001g0099a0001c0001t0001g0100others(27): Show | 30 | 102 | 0.2941 | 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 | a0001c0001t0001g0015a0001c0001t0001g0100a0001c0001t0003g0013others(1): Show | 4 | 102 | 0.0392 | 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(34): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0028a0001c0001t0001g0034a0001c0001t0001g0037others(34): Show | 37 | 102 | 0.3628 | 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(25): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0028a0001c0001t0001g0034a0001c0001t0002g0070others(25): Show | 28 | 102 | 0.2745 | 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 | a0001c0001t0001g0028a0001c0001t0002g0070a0001c0001t0003g0013others(11): Show | 14 | 102 | 0.1373 | 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 | a0001c0001t0007g0087a0001c0001t0009g0086a0001c0003t0004g0085others(4): Show | 7 | 102 | 0.0686 | 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 | a0002c0004t0001g0004a0002c0004t0002g0005a0002c0004t0005g0006others(1): Show | 4 | 102 | 0.0392 | 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 | a0001c0001t0001g0031a0001c0001t0001g0033a0002c0003t0001g0032 | 3 | 282 | 0.0106 | 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(207): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(21): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(36): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0018others(207): Show | 210 | 282 | 0.7447 | 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 |
a0001a0008a0012others(2): Show | a0001c0002a0008c0011a0012c0016others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(6): Show | a0001c0002t0001g0241a0001c0002t0002g0013a0001c0002t0002g0019others(71): Show | 74 | 282 | 0.2624 | 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(147): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0002a0001c0005others(19): Show | a0001c0001t0016a0001c0001t0017a0001c0002t0001others(30): Show | a0001c0001t0016g0176a0001c0001t0017g0012a0001c0002t0001g0241others(147): Show | 150 | 282 | 0.5319 | 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(107): Show |
a0001a0003a0008others(4): Show | a0001c0002a0001c0017a0003c0004others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(12): Show | a0001c0002t0001g0241a0001c0002t0001g0253a0001c0002t0002g0013others(107): Show | 110 | 282 | 0.3901 | 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 | a0003c0004t0003g0016a0003c0004t0003g0096a0003c0004t0003g0097others(8): Show | 11 | 282 | 0.0390 | 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 |
a0001a0010 | a0001c0002a0001c0005a0010c0013 | a0001c0002t0002a0001c0005t0001a0010c0013t0002 | a0001c0002t0002g0195a0001c0002t0002g0203a0001c0002t0002g0208others(3): Show | 6 | 282 | 0.0213 | 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(85): Show |
a0001a0005a0008others(2): Show | a0001c0001a0001c0002a0001c0017others(7): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0004g0071a0001c0002t0001g0241a0001c0002t0001g0253others(85): Show | 88 | 282 | 0.3121 | 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 | a0001c0001t0001g0015a0001c0001t0001g0037a0001c0001t0001g0040others(26): Show | 29 | 282 | 0.1028 | 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 |
a0001a0008a0014 | a0001c0002a0008c0011a0014c0023 | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(2): Show | a0001c0002t0001g0241a0001c0002t0001g0253a0001c0002t0002g0013others(23): Show | 26 | 282 | 0.0922 | 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 |
a0001a0002a0007 | a0001c0001a0001c0011a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(7): Show | a0001c0001t0002g0029a0001c0001t0003g0013a0001c0001t0003g0033others(17): Show | 20 | 222 | 0.0901 | 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 | a0001c0001t0001g0096a0001c0001t0002g0009a0001c0001t0002g0010others(30): Show | 33 | 222 | 0.1487 | 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 |
a0001a0007 | a0001c0001a0001c0011a0007c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(12): Show | a0001c0001t0002g0052a0001c0001t0003g0013a0001c0001t0003g0014others(22): Show | 25 | 222 | 0.1126 | 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 | a0001c0001t0001g0085a0001c0001t0001g0087a0001c0001t0001g0089others(27): Show | 30 | 222 | 0.1351 | 3 | c.404 others(22): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 5/12 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25786243 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp2 others(50): Show |
a0001a0002a0009 | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0014others(12): Show | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0011others(50): Show | 53 | 222 | 0.2387 | 3 | c.403 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 |
a0001a0004a0008 | a0001c0001a0001c0012a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0083a0001c0001t0001g0115a0001c0001t0001g0116others(43): Show | 46 | 222 | 0.2072 | 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 |
a0001a0002a0007 | a0001c0001a0001c0011a0001c0012others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(13): Show | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0011others(37): Show | 40 | 222 | 0.1802 | 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 | a0001c0001t0002g0009a0001c0001t0002g0011a0001c0001t0002g0012others(24): Show | 27 | 222 | 0.1216 | 3 | c.58- others(18): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25857090 | C | CGGG | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp2 HG00735.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0184a0001c0001t0001g0186a0001c0001t0001g0204others(31): Show | 34 | 222 | 0.1532 | 3 | c.58- others(20): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25869912 | T | TAAA | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0017 | a0001c0001t0016g0001a0001c0001t0016g0002a0001c0001t0017g0003others(2): Show | 5 | 222 | 0.0225 | 3 | c.57+ others(18): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33578458 | C | CCCG | 5_prime_UTR_variant | MODIFIER | HG01192.hp1 HG01433.hp2 HG01981.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0011a0001c0001t0021a0001c0001t0064others(4): Show | a0001c0001t0011g0081a0001c0001t0011g0122a0001c0001t0011g0139others(9): Show | 12 | 220 | 0.0546 | 3 | c.-13 others(12): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/12 | 132 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||
ASXL3_chr18_33573219_33756195 | 33586404 | C | CTTT | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00735.hp2 others(41): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0157a0001c0001t0002g0159a0001c0001t0004g0167others(41): Show | 44 | 220 | 0.2000 | 3 | c.54+ others(18): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ASXL3_chr18_33573219_33756195 | 33588359 | G | GTTT | intron_variant | MODIFIER | HG02630.hp2 HG02895.hp1 HG03516.hp1 others(2): Show |
a0001a0004a0014 | a0001c0001a0001c0008a0004c0004others(1): Show | a0001c0001t0004a0001c0001t0010a0001c0008t0081others(2): Show | a0001c0001t0004g0172a0001c0001t0010g0158a0001c0008t0081g0220others(2): Show | 5 | 220 | 0.0227 | 3 | c.54+ others(18): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ASXL3_chr18_33573219_33756195 | 33636305 | T | TCAA | intron_variant | MODIFIER | HG01981.hp1 HG02723.hp2 HG02970.hp1 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0039a0001c0008t0025a0002c0002t0013others(3): Show | a0001c0001t0039g0180a0001c0008t0025g0026a0002c0002t0013g0064others(3): Show | 6 | 220 | 0.0273 | 3 | c.138 others(20): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ASXL3_chr18_33573219_33756195 | 33713250 | T | TTTG | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG01109.hp1 others(26): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0041a0001c0001t0002g0159a0001c0001t0004g0066others(26): Show | 29 | 220 | 0.1318 | 3 | c.880 others(22): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ASXL3_chr18_33573219_33756195 | 33736345 | C | CTTT | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG02109.hp2 others(16): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0006a0001c0001t0010others(7): Show | a0001c0001t0004g0066a0001c0001t0004g0141a0001c0001t0004g0146others(16): Show | 19 | 220 | 0.0864 | 3 | c.108 others(22): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ASZ1_chr7_117358222_117432493 | 117387307 | T | TCAA | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00733.hp1 others(50): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(44): Show | 53 | 306 | 0.1732 | 3 | c.441 others(20): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
ASZ1_chr7_117358222_117432493 | 117423689 | C | CAAA | intron_variant | MODIFIER | HG02074.hp1 HG02155.hp2 HG02698.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0082a0002c0002t0002g0098a0002c0002t0002g0099others(4): Show | 7 | 306 | 0.0229 | 3 | c.206 others(20): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 2/12 | chr7 | TogoVar | ||||||
ASZ1_chr7_117358222_117432493 | 117425259 | C | CTTT | intron_variant | MODIFIER | HG00323.hp2 HG01358.hp1 HG01361.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0012a0001c0001t0001g0016a0001c0001t0001g0017others(21): Show | 24 | 306 | 0.0784 | 3 | c.205 others(20): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 2/12 | chr7 | TogoVar | ||||||
ASZ1_chr7_117358222_117432493 | 117426488 | C | CAAA | intron_variant | MODIFIER | HG01433.hp1 HG02074.hp1 HG02486.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0181others(12): Show | 15 | 306 | 0.0490 | 3 | c.205 others(18): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 2/12 | chr7 | TogoVar | ||||||
ATAD1_chr10_87746512_87823226 | 87749058 | G | GTTT | downstream_gene_variant | MODIFIER | HG01981.hp1 HG02572.hp1 HG03471.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0048a0001c0001t0003g0053a0001c0001t0003g0059others(4): Show | 7 | 360 | 0.0194 | 3 | c.*56 others(14): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 2453 | chr10 | TogoVar | ||||||
ATAD1_chr10_87746512_87823226 | 87760720 | C | CTGG | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(90): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0002g0038a0001c0001t0002g0114a0001c0001t0002g0115others(90): Show | 93 | 360 | 0.2583 | 3 | c.832 others(20): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 8/9 | chr10 | TogoVar | ||||||
ATAD1_chr10_87746512_87823226 | 87762916 | A | ATAT | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0105a0001c0001t0003g0106a0001c0001t0003g0107others(1): Show | 4 | 360 | 0.0111 | 3 | c.831 others(20): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 8/9 | chr10 | TogoVar | ||||||
ATAD1_chr10_87746512_87823226 | 87763078 | C | CTCA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00609.hp1 others(57): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0003c0003t0002 | a0001c0001t0002g0038a0001c0001t0002g0115a0001c0001t0002g0117others(57): Show | 60 | 360 | 0.1667 | 3 | c.831 others(20): Show |
ATAD1 | ENSG00000138138.14 | transcript | ENST00000680024.1 | protein_coding | 8/9 | chr10 | TogoVar |