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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASCC3_chr6_100503194_100886329 | 100744274 | C | CTGGGAAG others(15): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0008 | a0004c0008t0003 | a0004c0008t0003g0056 | 1 | 312 | 0.0032 | 22 | c.173 others(43): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCL1_chr12_102952674_102965513 | 102962372 | T | TTTTCTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 245 | 0.0041 | 22 | c.*30 others(33): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1860 | chr12 | TogoVar | |||||||
ASCL1_chr12_102952674_102965513 | 102962441 | T | TTTCATTC others(15): Show |
downstream_gene_variant | MODIFIER | NA19006.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 207 | 0.0097 | 22 | c.*31 others(33): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1929 | chr12 | TogoVar | |||||||
ASCL1_chr12_102952674_102965513 | 102962448 | T | TTCTTTCT others(15): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01069.hp1 others(43): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0024a0002c0002t0002others(5): Show | a0001c0001t0001g0001 a0001c0001t0024g0001 a0002c0002t0002g0001 others(5): Show |
46 | 220 | 0.2091 | 22 | c.*31 others(33): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1936 | chr12 | TogoVar | |||||||
ASGR2_chr17_7096326_7119822 | 7097670 | A | ATGTGTGT others(15): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 2 | 349 | 0.0057 | 22 | c.*39 others(33): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 3655 | chr17 | TogoVar | |||||||
ASGR2_chr17_7096326_7119822 | 7097674 | A | ATGTGTGT others(15): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 320 | 0.0031 | 22 | c.*39 others(33): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 3651 | chr17 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155411582 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02257.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0083 a0001c0001t0025g0181 |
2 | 128 | 0.0156 | 22 | c.600 others(41): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 6/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155411586 | A | AATAAATA others(15): Show |
intron_variant | MODIFIER | HG01192.hp2 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0111 |
2 | 24 | 0.0833 | 22 | c.600 others(41): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 6/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155411586 | A | AATAAATA others(15): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 23 | 0.0435 | 22 | c.600 others(41): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 6/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155411586 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG03942.hp1 NA18939.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0051 |
2 | 24 | 0.0833 | 22 | c.600 others(41): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 6/27 | chr1 | TogoVar | |||||||
ASH2L_chr8_38100529_38145080 | 38142491 | A | ATGTGTGT others(15): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 3 | 0.3333 | 22 | c.*34 others(33): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 2412 | chr8 | TogoVar | |||||||
ASH2L_chr8_38100529_38145080 | 38142491 | A | ATGTGTGT others(15): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 3 | 0.3333 | 22 | c.*34 others(33): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 2412 | chr8 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33032440 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0062 | 1 | 59 | 0.0169 | 22 | c.988 others(39): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33087575 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0133 | 1 | 88 | 0.0114 | 22 | c.987 others(39): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
ASIP_chr20_34236423_34274344 | 34258674 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG00741.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0032 others(12): Show |
20 | 167 | 0.1198 | 22 | c.-10 others(39): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1613197 | T | TTCTTTCT others(15): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0004 | 1 | 217 | 0.0046 | 22 | c.-20 others(33): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1861 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1613199 | C | CTTTCTTT others(15): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0174 | 1 | 219 | 0.0046 | 22 | c.-20 others(33): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1859 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1625546 | G | GAGGGAGG others(15): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0048 | 1 | 122 | 0.0082 | 22 | c.374 others(39): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1625551 | A | AGGGAGGG others(15): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 129 | 0.0078 | 22 | c.374 others(39): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASNS_chr7_97846677_97877408 | 97868519 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01975.hp2 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 3 | 242 | 0.0124 | 22 | c.249 others(37): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
ASPG_chr14_104080700_104120582 | 104085404 | C | CGCCCCGC others(15): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0159 | 1 | 366 | 0.0027 | 22 | c.-36 others(31): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 295 | chr14 | TogoVar | |||||||
ASPG_chr14_104080700_104120582 | 104085436 | C | CGCACCCC others(15): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 | 2 | 366 | 0.0055 | 22 | c.-33 others(31): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 263 | chr14 | TogoVar | |||||||
ASPHD2_chr22_26424260_26450015 | 26438582 | C | CATACATA others(15): Show |
intron_variant | MODIFIER | HG01993.hp2 HG03492.hp2 HG03710.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 4 | 365 | 0.0110 | 22 | c.887 others(39): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ASPH_chr8_61495556_61719592 | 61539697 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 252 | 0.0040 | 22 | c.176 others(41): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 21/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61539699 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01167.hp1 HG02074.hp1 others(7): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0014 | a0001c0001t0001a0001c0001t0004a0001c0001t0029others(2): Show | a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0050 others(7): Show |
10 | 13 | 0.7692 | 22 | c.176 others(41): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 21/24 | chr8 | TogoVar | |||||||
ASPM_chr1_197079127_197151669 | 197148333 | C | CAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG01168.hp2 others(18): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0009a0001c0003t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(16): Show |
21 | 48 | 0.4375 | 22 | c.-18 others(33): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 1665 | chr1 | TogoVar | |||||||
ASPSCR1_chr17_81972629_82022406 | 81997105 | C | CGCTCCGG others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(147): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0008a0002c0002others(6): Show | a0001c0003t0001a0001c0008t0002a0002c0002t0001others(6): Show | a0001c0003t0001g0003 a0001c0003t0001g0199 a0001c0008t0002g0009 others(130): Show |
150 | 364 | 0.4121 | 22 | c.933 others(37): Show |
ASPSCR1 | ENSG00000169696.16 | transcript | ENST00000306739.9 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362813 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 1 | 26 | 0.0385 | 22 | c.491 others(39): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASS1_chr9_130439961_130506274 | 130448422 | G | GCGCACAC others(15): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0166 |
3 | 77 | 0.0390 | 22 | c.-6+ others(37): Show |
ASS1 | ENSG00000130707.18 | transcript | ENST00000352480.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ASTN1_chr1_176856067_177169712 | 176922556 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02886.hp2 |
a0001 | a0001c0009a0001c0012 | a0001c0009t0004a0001c0012t0004 | a0001c0009t0004g0024 a0001c0012t0004g0010 |
2 | 26 | 0.0769 | 22 | c.267 others(43): Show |
ASTN1 | ENSG00000152092.16 | transcript | ENST00000361833.7 | protein_coding | 16/22 | chr1 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116446255 | G | GGAGAGAG others(15): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0060 | 1 | 100 | 0.0100 | 22 | c.349 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 20/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116462787 | C | CGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0064 | 1 | 93 | 0.0108 | 22 | c.349 others(43): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 20/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116490272 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 17 | 0.0588 | 22 | c.335 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116586833 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG03041.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0021others(1): Show | a0001c0001t0006a0001c0001t0011a0001c0003t0006others(2): Show | a0001c0001t0006g0014 a0001c0001t0011g0002 a0001c0003t0006g0026 others(2): Show |
5 | 82 | 0.0610 | 22 | c.335 others(43): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 19/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116718972 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02004.hp2 NA19065.hp1 others(1): Show |
a0001 | a0001c0002a0001c0009a0001c0010 | a0001c0002t0003a0001c0002t0010a0001c0009t0004others(1): Show | a0001c0002t0003g0022 a0001c0002t0010g0063 a0001c0009t0004g0032 others(1): Show |
4 | 32 | 0.1250 | 22 | c.280 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 16/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116933979 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01891.hp1 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0006a0001c0001t0007a0001c0001t0015others(4): Show | a0001c0001t0006g0016 a0001c0001t0007g0087 a0001c0001t0015g0045 others(4): Show |
7 | 18 | 0.3889 | 22 | c.188 others(43): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 10/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117003530 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01261.hp2 HG02615.hp2 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0002g0050 a0001c0001t0005g0035 a0001c0001t0005g0096 others(7): Show |
10 | 15 | 0.6667 | 22 | c.159 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 7/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117003951 | C | CGTGCGCG others(15): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0054 | 1 | 99 | 0.0101 | 22 | c.159 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 7/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117060393 | A | AGGAAGGA others(15): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0086 | 1 | 93 | 0.0108 | 22 | c.127 others(43): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 5/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117108438 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG02896.hp1 NA19010.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 a0001c0002t0001g0042 |
2 | 19 | 0.1053 | 22 | c.116 others(43): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117116037 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG04199.hp1 NA18959.hp1 NA19010.hp2 |
a0001a0003a0007 | a0001c0010a0003c0019a0007c0015 | a0001c0010t0001a0003c0019t0002a0007c0015t0003 | a0001c0010t0001g0102 a0003c0019t0002g0025 a0007c0015t0003g0019 |
3 | 41 | 0.0732 | 22 | c.116 others(43): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117120018 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011 | a0001c0001t0007g0087 a0001c0001t0011g0002 |
2 | 41 | 0.0488 | 22 | c.116 others(43): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117120018 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0097 | 1 | 40 | 0.0250 | 22 | c.116 others(43): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 4/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117225535 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 19 | 0.0526 | 22 | c.631 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 117225535 | G | GTATGTAT others(15): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01169.hp2 HG01256.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0001a0001c0002t0003a0001c0002t0004others(1): Show | a0001c0001t0001g0053 a0001c0002t0003g0021 a0001c0002t0003g0041 others(2): Show |
5 | 23 | 0.2174 | 22 | c.631 others(41): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 2/22 | chr9 | TogoVar | |||||||
ASXL1_chr20_32353331_32444319 | 32377972 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01243.hp1 HG02615.hp2 others(13): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0002a0001c0002t0005a0001c0002t0018others(1): Show | a0001c0002t0002g0022 a0001c0002t0002g0031 a0001c0002t0002g0195 others(13): Show |
16 | 93 | 0.1720 | 22 | c.252 others(39): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32378158 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0184 | 1 | 90 | 0.0111 | 22 | c.252 others(39): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL1_chr20_32353331_32444319 | 32418809 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 21 | 0.0476 | 22 | c.253 others(39): Show |
ASXL1 | ENSG00000171456.22 | transcript | ENST00000375687.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25786243 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 54 | 0.0185 | 22 | c.403 others(41): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 5/12 | chr2 | TogoVar | |||||||
ASXL2_chr2_25728753_25883487 | 25807986 | T | TAAACACA others(15): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 34 | 0.0294 | 22 | c.144 others(39): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 3/12 | chr2 | TogoVar |