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 | 117364950 | A | AACAC | intron_variant | MODIFIER | HG01258.hp1 HG02004.hp2 HG02109.hp1 others(3): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0037 a0001c0001t0001g0099 a0001c0002t0002g0053 others(3): Show |
6 | 102 | 0.0588 | 4 | c.442 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117365313 | A | AAAAG | intron_variant | MODIFIER | HG01261.hp1 HG02451.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0005a0001c0003t0006a0001c0005t0005 | a0001c0001t0005g0077 a0001c0003t0006g0017 a0001c0005t0005g0076 |
3 | 102 | 0.0294 | 4 | c.442 others(23): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 1/22 | chr9 | TogoVar | |||||||
ASXL1_chr20_32353331_32444319 | 32369718 | C | CTTTT | intron_variant | MODIFIER | HG01123.hp1 HG01175.hp1 HG01175.hp2 others(14): Show |
a0001a0014a0018 | a0001c0002a0001c0018a0014c0013others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(3): Show | a0001c0002t0001g0253 a0001c0002t0002g0023 a0001c0002t0002g0247 others(14): Show |
17 | 282 | 0.0603 | 4 | c.252 others(19): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32377972 | C | CTGTG | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp2 HG02109.hp2 others(8): Show |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0001t0004a0001c0019t0001 | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 others(8): Show |
11 | 282 | 0.0390 | 4 | c.252 others(21): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32378158 | T | TTGTG | intron_variant | MODIFIER | HG01074.hp2 HG01934.hp1 HG02145.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0004a0003c0025 | a0001c0001t0001a0003c0004t0003a0003c0004t0011others(1): Show | a0001c0001t0001g0043 a0001c0001t0001g0085 a0003c0004t0003g0016 others(7): Show |
10 | 282 | 0.0355 | 4 | c.252 others(21): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32389003 | T | TTTTA | intron_variant | MODIFIER | HG01261.hp2 HG01358.hp2 HG02300.hp1 others(9): Show |
a0001a0004a0009 | a0001c0001a0001c0023a0004c0006others(2): Show | a0001c0001t0017a0001c0023t0001a0004c0006t0006others(3): Show | a0001c0001t0017g0012 a0001c0023t0001g0011 a0004c0006t0006g0001 others(9): Show |
12 | 282 | 0.0426 | 4 | 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 | CTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp1 others(38): Show |
a0001a0003a0010others(2): Show | a0001c0001a0001c0002a0003c0004others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(6): Show | a0001c0001t0001g0040 a0001c0002t0002g0021 a0001c0002t0002g0026 others(38): Show |
41 | 282 | 0.1454 | 4 | 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 | 32401544 | G | GTGTT | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02559.hp1 others(9): Show |
a0001a0017 | a0001c0002a0001c0005a0001c0023others(2): Show | a0001c0002t0002a0001c0005t0001a0001c0005t0015others(3): Show | a0001c0002t0002g0217 a0001c0005t0001g0182 a0001c0005t0001g0185 others(9): Show |
12 | 282 | 0.0426 | 4 | c.253 others(23): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32411215 | C | CTTTT | intron_variant | MODIFIER | HG00738.hp1 HG02055.hp2 HG02083.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0062 others(4): Show |
7 | 282 | 0.0248 | 4 | c.253 others(23): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32413528 | T | TATTG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(193): Show |
a0001a0003a0004others(11): Show | a0001c0001a0001c0002a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(37): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 others(193): Show |
196 | 282 | 0.6950 | 4 | c.253 others(23): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32423541 | T | TTTTA | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG02572.hp1 others(2): Show |
a0005 | a0005c0009 | a0005c0009t0003 | a0005c0009t0003g0177 a0005c0009t0003g0178 a0005c0009t0003g0179 others(2): Show |
5 | 282 | 0.0177 | 4 | c.253 others(21): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32426541 | C | CTTTT | intron_variant | MODIFIER | HG01934.hp2 HG02129.hp1 HG02129.hp2 others(11): Show |
a0001a0008a0013 | a0001c0002a0008c0011a0013c0017 | a0001c0002t0002a0008c0011t0002a0013c0017t0002 | a0001c0002t0002g0027 a0001c0002t0002g0194 a0001c0002t0002g0196 others(11): Show |
14 | 282 | 0.0497 | 4 | c.253 others(21): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25744935 | C | CCACA | intron_variant | MODIFIER | HG00140.hp2 HG01167.hp1 HG01169.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0037 | a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0169 others(5): Show |
8 | 222 | 0.0360 | 4 | c.186 others(21): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 12/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25757674 | C | CAAAA | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG01071.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 others(11): Show |
14 | 222 | 0.0631 | 4 | c.940 others(21): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 9/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25779084 | A | ATTTT | intron_variant | MODIFIER | HG00423.hp2 HG01192.hp2 HG01243.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0099 a0001c0001t0002g0012 a0001c0001t0002g0021 others(5): Show |
8 | 222 | 0.0360 | 4 | c.404 others(21): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 5/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25781959 | C | CTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00673.hp2 others(21): Show |
a0001a0003a0009 | a0001c0001a0003c0004a0009c0009 | a0001c0001t0001a0001c0001t0029a0001c0001t0044others(2): Show | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0088 others(21): Show |
24 | 222 | 0.1081 | 4 | c.404 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 5/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25784053 | C | CTAAA | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00735.hp1 others(36): Show |
a0001a0003a0005 | a0001c0001a0001c0008a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(12): Show | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 others(36): Show |
39 | 222 | 0.1757 | 4 | c.404 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 5/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25786243 | C | CTTTT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01074.hp1 others(15): Show |
a0001a0010 | a0001c0001a0001c0011a0010c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(6): Show | a0001c0001t0002g0042 a0001c0001t0003g0013 a0001c0001t0003g0014 others(15): Show |
18 | 222 | 0.0811 | 4 | c.403 others(23): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 5/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25803133 | A | AAATG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(96): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0012a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0104 others(96): Show |
99 | 222 | 0.4460 | 4 | c.252 others(21): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25807986 | T | TACAC | intron_variant | MODIFIER | HG00423.hp2 HG01109.hp2 HG01496.hp1 others(15): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(5): Show | a0001c0001t0001g0094 a0001c0001t0001g0150 a0001c0001t0002g0010 others(15): Show |
18 | 222 | 0.0811 | 4 | c.144 others(21): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25811055 | T | TACAC | intron_variant | MODIFIER | HG00597.hp2 HG01081.hp2 HG01192.hp2 others(27): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(14): Show | a0001c0001t0001g0091 a0001c0001t0001g0112 a0001c0001t0001g0113 others(27): Show |
30 | 222 | 0.1351 | 4 | c.144 others(21): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25826762 | T | TAAAA | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01261.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0091 a0001c0001t0001g0133 a0001c0001t0002g0011 others(6): Show |
9 | 222 | 0.0405 | 4 | c.143 others(21): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25828824 | C | CAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG01106.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0002g0021 a0001c0001t0002g0042 a0001c0001t0002g0047 others(11): Show |
14 | 222 | 0.0631 | 4 | c.143 others(21): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25829285 | C | CACAT | intron_variant | MODIFIER | HG02109.hp1 HG02602.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019 | a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0215 others(5): Show |
8 | 222 | 0.0360 | 4 | c.143 others(21): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25829289 | T | TACAC | intron_variant | MODIFIER | HG00733.hp2 HG01167.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026a0001c0001t0040 | a0001c0001t0001g0101 a0001c0001t0001g0123 a0001c0001t0026g0036 others(2): Show |
5 | 222 | 0.0225 | 4 | c.143 others(21): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25842703 | T | TATAG | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00621.hp1 others(41): Show |
a0001a0003a0009 | a0001c0001a0003c0004a0009c0009 | a0001c0001t0001a0001c0001t0007a0001c0001t0029others(6): Show | a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 others(41): Show |
44 | 222 | 0.1982 | 4 | c.140 others(21): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25849064 | C | CATAT | intron_variant | MODIFIER | HG03540.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0048 | a0001c0001t0001g0153 a0001c0001t0048g0197 |
2 | 222 | 0.0090 | 4 | c.58- others(19): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25849452 | C | CAAAA | intron_variant | MODIFIER | HG00733.hp1 HG01243.hp2 HG01884.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0009a0001c0001t0011others(6): Show | a0001c0001t0002g0010 a0001c0001t0002g0017 a0001c0001t0002g0026 others(13): Show |
16 | 222 | 0.0721 | 4 | c.58- others(19): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25855882 | C | CATTT | intron_variant | MODIFIER | HG00140.hp2 HG02922.hp1 HG06807.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033a0001c0001t0040others(1): Show | a0001c0001t0001g0101 a0001c0001t0001g0199 a0001c0001t0033g0080 others(2): Show |
5 | 222 | 0.0225 | 4 | c.58- others(21): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25857090 | C | CGGGG | intron_variant | MODIFIER | HG00423.hp1 HG00733.hp1 HG01081.hp1 others(13): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0013others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(6): Show | a0001c0001t0001g0162 a0001c0001t0001g0187 a0001c0001t0011g0064 others(13): Show |
16 | 222 | 0.0721 | 4 | c.58- others(21): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ASXL3_chr18_33573219_33756195 | 33573305 | G | GTTTT | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG02895.hp1 others(15): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0017a0001c0001t0038a0001c0001t0039others(14): Show | a0001c0001t0017g0008 a0001c0001t0038g0183 a0001c0001t0039g0180 others(15): Show |
18 | 220 | 0.0818 | 4 | c.-53 others(15): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 4913 | chr18 | TogoVar | |||||||
ASXL3_chr18_33573219_33756195 | 33581472 | A | AGTGT | intron_variant | MODIFIER | HG02886.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0029 | a0001c0001t0021g0213 a0001c0001t0029g0029 |
2 | 220 | 0.0091 | 4 | c.54+ others(19): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33582547 | A | ATTTG | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00735.hp2 others(59): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0008others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(37): Show | a0001c0001t0001g0157 a0001c0001t0002g0159 a0001c0001t0004g0167 others(59): Show |
62 | 220 | 0.2818 | 4 | c.54+ others(19): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33582706 | C | CTGTG | intron_variant | MODIFIER | HG00558.hp1 HG00741.hp2 HG02055.hp1 others(5): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0010c0020others(1): Show | a0001c0001t0001a0001c0001t0007a0002c0002t0003others(2): Show | a0001c0001t0001g0042 a0001c0001t0007g0011 a0001c0001t0007g0012 others(5): Show |
8 | 220 | 0.0364 | 4 | c.54+ others(19): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33582740 | G | GTGTT | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG02572.hp2 others(12): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0029others(1): Show | a0001c0001t0008a0001c0001t0012a0001c0001t0027others(5): Show | a0001c0001t0008g0019 a0001c0001t0008g0020 a0001c0001t0008g0022 others(12): Show |
15 | 220 | 0.0682 | 4 | c.54+ others(19): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33612184 | C | CATAT | intron_variant | MODIFIER | HG02145.hp2 HG03704.hp2 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0039a0002c0006t0009 | a0001c0001t0039g0180 a0002c0006t0009g0037 |
2 | 220 | 0.0091 | 4 | c.137 others(21): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33616398 | C | CTGTG | intron_variant | MODIFIER | HG02886.hp2 HG03688.hp1 HG03704.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0029a0002c0002t0003 | a0001c0001t0029g0029 a0002c0002t0003g0057 a0002c0002t0003g0144 |
3 | 220 | 0.0136 | 4 | c.137 others(21): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33678077 | A | ATTAT | intron_variant | MODIFIER | HG02148.hp2 HG04204.hp2 |
a0001a0016 | a0001c0001a0016c0024 | a0001c0001t0001a0016c0024t0001 | a0001c0001t0001g0087 a0016c0024t0001g0155 |
2 | 220 | 0.0091 | 4 | c.716 others(21): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33713229 | G | GTTTT | intron_variant | MODIFIER | HG01358.hp1 HG01981.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(3): Show | a0001c0001t0001g0083 a0001c0001t0006g0090 a0001c0001t0011g0206 others(3): Show |
6 | 220 | 0.0273 | 4 | c.880 others(23): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33713249 | T | TTTTG | intron_variant | MODIFIER | HG01255.hp2 HG02055.hp2 HG02109.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0004a0001c0001t0006a0002c0002t0005others(5): Show | a0001c0001t0004g0141 a0001c0001t0006g0124 a0002c0002t0005g0168 others(5): Show |
8 | 220 | 0.0364 | 4 | c.880 others(23): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33729115 | G | GAAAC | intron_variant | MODIFIER | HG00280.hp2 HG01109.hp1 HG01255.hp2 others(13): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0038a0002c0002t0003a0004c0004t0005others(10): Show | a0001c0001t0038g0183 a0002c0002t0003g0106 a0002c0002t0003g0108 others(13): Show |
16 | 220 | 0.0727 | 4 | c.880 others(21): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASXL3_chr18_33573219_33756195 | 33742397 | A | AAAGT | intron_variant | MODIFIER | HG02723.hp2 HG02895.hp1 HG03209.hp1 |
a0001 | a0001c0008a0001c0021 | a0001c0008t0025a0001c0008t0081a0001c0021t0076 | a0001c0008t0025g0026 a0001c0008t0081g0220 a0001c0021t0076g0175 |
3 | 220 | 0.0136 | 4 | c.304 others(21): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ASZ1_chr7_117358222_117432493 | 117370804 | T | TTGTG | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01069.hp2 others(47): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(42): Show |
50 | 306 | 0.1634 | 4 | c.105 others(23): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 10/12 | chr7 | TogoVar | |||||||
ASZ1_chr7_117358222_117432493 | 117379168 | T | TACAC | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG02165.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0118 a0001c0001t0003g0122 a0002c0002t0002g0078 others(9): Show |
12 | 306 | 0.0392 | 4 | c.105 others(21): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 10/12 | chr7 | TogoVar | |||||||
ASZ1_chr7_117358222_117432493 | 117379168 | T | TATAC | intron_variant | MODIFIER | HG01928.hp1 HG02132.hp1 HG02155.hp2 others(16): Show |
a0002a0006 | a0002c0002a0006c0005 | a0002c0002t0002a0006c0005t0002 | a0002c0002t0002g0076 a0002c0002t0002g0085 a0002c0002t0002g0086 others(16): Show |
19 | 306 | 0.0621 | 4 | c.105 others(21): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 10/12 | chr7 | TogoVar | |||||||
ASZ1_chr7_117358222_117432493 | 117390178 | G | GTTTT | intron_variant | MODIFIER | HG01496.hp1 HG02145.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 a0001c0001t0001g0190 a0001c0001t0001g0194 |
3 | 306 | 0.0098 | 4 | c.441 others(21): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
ASZ1_chr7_117358222_117432493 | 117402961 | C | CTTAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(301): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(290): Show |
304 | 306 | 0.9935 | 4 | c.441 others(23): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
ASZ1_chr7_117358222_117432493 | 117404417 | C | CTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 others(3): Show |
6 | 306 | 0.0196 | 4 | c.440 others(23): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
ASZ1_chr7_117358222_117432493 | 117412039 | A | AGTGT | intron_variant | MODIFIER | HG01243.hp2 HG02165.hp2 HG02257.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0003c0004t0001 | a0001c0001t0001g0067 a0001c0001t0001g0213 a0001c0001t0001g0222 others(8): Show |
11 | 306 | 0.0360 | 4 | c.440 others(21): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
ASZ1_chr7_117358222_117432493 | 117412042 | G | GTGTA | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp2 HG01192.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0002 | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0022 others(16): Show |
21 | 306 | 0.0686 | 4 | c.440 others(21): Show |
ASZ1 | ENSG00000154438.8 | transcript | ENST00000284629.7 | protein_coding | 4/12 | chr7 | TogoVar |