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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASGR2_chr17_7096326_7119822 | 7104348 | T | TAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02074.hp1 HG02486.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0003g0279 a0001c0001t0003g0295 a0001c0001t0004g0303 others(10): Show |
15 | 105 | 0.1429 | 10 | c.649 others(27): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
ASGR2_chr17_7096326_7119822 | 7111302 | G | GAAAAAAG others(3): Show |
intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0259 | 1 | 430 | 0.0023 | 10 | c.125 others(27): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
ASGR2_chr17_7096326_7119822 | 7111666 | A | AAAAAGAA others(3): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0302 | 1 | 430 | 0.0023 | 10 | c.124 others(27): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
ASGR2_chr17_7096326_7119822 | 7116889 | T | TTTTTTTT others(3): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0214 | 1 | 429 | 0.0023 | 10 | c.-23 others(21): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 2068 | chr17 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155332458 | G | GTATATAT others(3): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02683.hp1 NA18747.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0068 others(3): Show |
6 | 78 | 0.0769 | 10 | c.*52 others(21): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2809 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155332460 | G | GTATATAT others(3): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0109 |
2 | 37 | 0.0541 | 10 | c.*51 others(21): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2807 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155348911 | T | TATACACA others(3): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 148 | 0.0068 | 10 | c.755 others(27): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 19/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155357078 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02074.hp1 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0139 others(2): Show |
5 | 30 | 0.1667 | 10 | c.705 others(27): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 15/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155388715 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG03195.hp2 others(1): Show |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0003a0005c0005t0002 | a0003c0003t0003g0175 a0003c0003t0003g0178 a0005c0005t0002g0173 others(1): Show |
4 | 50 | 0.0800 | 10 | c.610 others(29): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 7/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155411574 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 180 | 0.0056 | 10 | c.600 others(29): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 6/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155411586 | A | AATAAATA others(3): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03195.hp2 NA18985.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0022 a0003c0003t0003g0175 a0003c0003t0003g0177 |
3 | 25 | 0.1200 | 10 | c.600 others(29): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 6/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155411586 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG02129.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0138 |
2 | 24 | 0.0833 | 10 | c.600 others(29): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 6/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155490614 | T | TCACACAC others(3): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01891.hp1 others(5): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0005 | a0001c0001t0001a0004c0004t0004a0005c0005t0002 | a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0126 others(5): Show |
8 | 41 | 0.1951 | 10 | c.421 others(27): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155490654 | A | ACACACAC others(3): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0175 | 1 | 177 | 0.0056 | 10 | c.421 others(27): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155490968 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 54 | 0.0185 | 10 | c.421 others(27): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155502051 | G | GTTTTCTT others(3): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 178 | 0.0056 | 10 | c.420 others(29): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2/27 | chr1 | TogoVar | |||||||
ASH2L_chr8_38100529_38145080 | 38107868 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 79 | 0.0127 | 10 | c.401 others(25): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASH2L_chr8_38100529_38145080 | 38121333 | T | TTATTTAT others(3): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18990.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0043 a0001c0002t0003g0285 |
2 | 62 | 0.0323 | 10 | c.116 others(27): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASH2L_chr8_38100529_38145080 | 38126853 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp1 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0002t0001g0001 others(51): Show |
67 | 312 | 0.2147 | 10 | c.116 others(29): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASH2L_chr8_38100529_38145080 | 38142491 | A | ATGTGTGT others(3): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG00639.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(39): Show |
43 | 45 | 0.9556 | 10 | c.*34 others(21): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 2412 | chr8 | TogoVar | |||||||
ASIC1_chr12_50052596_50088611 | 50071266 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0064 | 1 | 229 | 0.0044 | 10 | c.559 others(27): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASIC1_chr12_50052596_50088611 | 50074860 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | NA18966.hp2 NA18979.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0156 a0001c0002t0002g0169 |
2 | 27 | 0.0741 | 10 | c.559 others(27): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33068528 | T | TCAAAACA others(3): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp2 others(83): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(23): Show | a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0020 others(82): Show |
86 | 137 | 0.6277 | 10 | c.987 others(29): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33160214 | A | AAAAAGAA others(3): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00735.hp1 HG01074.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0003g0011 a0001c0001t0003g0033 a0001c0001t0003g0034 others(23): Show |
26 | 236 | 0.1102 | 10 | c.709 others(29): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33232446 | A | AATGGTAT others(3): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01074.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(10): Show | a0001c0001t0004g0073 a0001c0001t0006g0027 a0001c0001t0009g0061 others(22): Show |
25 | 113 | 0.2212 | 10 | c.708 others(29): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33232480 | G | GTATGGTA others(3): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02055.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0002a0001c0002t0005others(1): Show | a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0002t0002g0099 others(2): Show |
5 | 238 | 0.0210 | 10 | c.708 others(29): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIP_chr20_34236423_34274344 | 34269946 | T | TAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 32 | 0.0313 | 10 | c.*77 others(19): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 603 | chr20 | TogoVar | |||||||
ASL_chr7_66070819_66098576 | 66087243 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 63 | 0.0159 | 10 | c.603 others(23): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1420295 | T | TTCTGTCT others(3): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp1 others(12): Show |
a0004a0010 | a0004c0007a0004c0009a0010c0019 | a0004c0007t0001a0004c0007t0002a0004c0009t0001others(1): Show | a0004c0007t0001g0007 a0004c0007t0001g0026 a0004c0007t0001g0059 others(12): Show |
15 | 183 | 0.0820 | 10 | c.124 others(29): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 9/12 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1627633 | C | CGAAATGA others(3): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01168.hp1 HG02683.hp2 |
a0002a0006 | a0002c0002a0006c0011 | a0002c0002t0001a0006c0011t0002 | a0002c0002t0001g0045 a0002c0002t0001g0046 a0006c0011t0002g0076 |
3 | 85 | 0.0353 | 10 | c.375 others(23): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1644219 | T | TTTTATTA others(3): Show |
downstream_gene_variant | MODIFIER | NA18939.hp2 NA18988.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0060 a0002c0002t0001g0085 |
2 | 38 | 0.0526 | 10 | c.*12 others(21): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1139 | chrX | TogoVar | |||||||
ASNS_chr7_97846677_97877408 | 97868519 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG01074.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0033 others(27): Show |
46 | 285 | 0.1614 | 10 | c.249 others(25): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
ASPA_chr17_3470997_3508405 | 3487073 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01168.hp2 HG01243.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0128 others(30): Show |
37 | 314 | 0.1178 | 10 | c.527 others(27): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ASPDH_chr19_50506603_50518913 | 50510051 | C | CAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(98): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(9): Show |
101 | 183 | 0.5519 | 10 | c.*16 others(21): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 1551 | chr19 | TogoVar | |||||||
ASPHD1_chr16_29895488_29911056 | 29904126 | G | GAATAAAA others(3): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0014 a0001c0001t0002g0014 a0001c0001t0002g0024 others(2): Show |
8 | 272 | 0.0294 | 10 | c.950 others(25): Show |
ASPHD1 | ENSG00000174939.11 | transcript | ENST00000308748.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26435710 | T | TAAAAGAA others(3): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01516.hp1 HG01516.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0022others(1): Show | a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 others(6): Show |
15 | 69 | 0.2174 | 10 | c.886 others(27): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26438488 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(106): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(44): Show |
109 | 425 | 0.2565 | 10 | c.887 others(27): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26438520 | T | TATACACA others(3): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02135.hp1 HG02523.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0043 | a0001c0001t0001g0015 a0001c0001t0001g0087 a0001c0001t0001g0088 others(3): Show |
10 | 426 | 0.0235 | 10 | c.887 others(27): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ASPHD2_chr22_26424260_26450015 | 26443634 | A | AAAAAAAA others(3): Show |
3_prime_UTR_variant | MODIFIER | HG00609.hp2 HG02056.hp1 HG04184.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010 a0001c0001t0006g0048 a0001c0001t0006g0049 others(5): Show |
16 | 418 | 0.0383 | 10 | c.*43 others(19): Show |
ASPHD2 | ENSG00000128203.7 | transcript | ENST00000215906.6 | protein_coding | 4/4 | 432 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ASPH_chr8_61495556_61719592 | 61539699 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18945.hp2 NA19074.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 a0001c0001t0001g0130 a0001c0001t0001g0131 others(1): Show |
4 | 7 | 0.5714 | 10 | c.176 others(29): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 21/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61562389 | C | CTCTGTGT others(3): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01496.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0102 a0001c0001t0004g0228 a0001c0001t0008g0237 others(4): Show |
7 | 88 | 0.0795 | 10 | c.143 others(27): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 18/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61617616 | A | ATCCAACA others(3): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 256 | 0.0039 | 10 | c.976 others(27): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 14/24 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61718106 | A | ATGAAGAA others(3): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00609.hp2 others(180): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 others(179): Show |
183 | 256 | 0.7148 | 10 | c.-37 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 3515 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61719292 | A | AGTGTGTG others(3): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | 253 | 0.0158 | 10 | c.-49 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 4701 | chr8 | TogoVar | |||||||
ASPH_chr8_61495556_61719592 | 61719294 | A | AGAGAGTG others(3): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 a0001c0001t0001g0186 |
2 | 75 | 0.0267 | 10 | c.-49 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 4703 | chr8 | TogoVar | |||||||
ASPM_chr1_197079127_197151669 | 197148333 | C | CAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01081.hp1 HG01099.hp1 others(11): Show |
a0002a0003a0010 | a0002c0002a0002c0040a0003c0007others(1): Show | a0002c0002t0001a0002c0040t0001a0003c0007t0002others(1): Show | a0002c0002t0001g0003 a0002c0002t0001g0138 a0002c0002t0001g0139 others(9): Show |
14 | 41 | 0.3415 | 10 | c.-18 others(21): Show |
ASPM | ENSG00000066279.19 | transcript | ENST00000367409.9 | protein_coding | 1665 | chr1 | TogoVar | |||||||
ASRGL1_chr11_62332448_62398412 | 62357224 | C | CTTTTGTT others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(154): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0018 others(153): Show |
157 | 174 | 0.9023 | 10 | c.491 others(25): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62361195 | T | TTTTTTTT others(3): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 368 | 0.0027 | 10 | c.491 others(27): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62362813 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01167.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0025others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0056 a0001c0001t0001g0071 others(14): Show |
17 | 42 | 0.4048 | 10 | c.491 others(27): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASRGL1_chr11_62332448_62398412 | 62375428 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01175.hp2 HG01256.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0005 a0001c0001t0002g0059 a0001c0001t0002g0208 others(9): Show |
12 | 88 | 0.1364 | 10 | c.492 others(29): Show |
ASRGL1 | ENSG00000162174.12 | transcript | ENST00000415229.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |