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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASF1B_chr19_14114512_14141589 | 14130787 | G | GTGTATAT others(3): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02717.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 | 2 | 334 | 0.0060 | 10 | c.110 others(27): Show |
ASF1B | ENSG00000105011.9 | transcript | ENST00000263382.8 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
ASGR1_chr17_7168431_7184370 | 7175816 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0078 | 1 | 442 | 0.0023 | 10 | c.355 others(27): Show |
ASGR1 | ENSG00000141505.12 | transcript | ENST00000269299.8 | protein_coding | 5/8 | chr17 | TogoVar | ||||||
ASGR1_chr17_7168431_7184370 | 7176792 | T | TCACACAC others(3): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02895.hp2 HG02897.hp2 others(3): Show |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0004a0003c0005t0004 | a0001c0003t0004g0028a0001c0003t0004g0156a0001c0003t0004g0159others(1): Show | 6 | 442 | 0.0136 | 10 | c.355 others(23): Show |
ASGR1 | ENSG00000141505.12 | transcript | ENST00000269299.8 | protein_coding | 5/8 | chr17 | TogoVar | ||||||
ASGR2_chr17_7096326_7119822 | 7097662 | A | ATGTGTGT others(3): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG01123.hp2 HG01175.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0010 | a0001c0001t0002g0002a0001c0001t0002g0063a0001c0001t0002g0082others(7): Show | 13 | 432 | 0.0301 | 10 | c.*39 others(21): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 3663 | chr17 | TogoVar | ||||||
ASGR2_chr17_7096326_7119822 | 7097666 | A | ATGTGTGT others(3): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 NA18961.hp2 NA19080.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0019a0001c0002t0003g0288a0001c0002t0003g0298 | 3 | 432 | 0.0069 | 10 | c.*39 others(21): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 3659 | chr17 | TogoVar | ||||||
ASGR2_chr17_7096326_7119822 | 7097670 | A | ATGTGTGT others(3): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 NA18961.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0049a0001c0003t0001g0185 | 2 | 432 | 0.0046 | 10 | c.*39 others(21): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 3655 | chr17 | TogoVar | ||||||
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 | a0001c0001t0003g0281a0001c0001t0003g0297a0001c0001t0004g0305others(10): Show | 15 | 432 | 0.0347 | 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 | a0001c0002t0001g0254 | 1 | 432 | 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 | a0001c0001t0004g0304 | 1 | 432 | 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 | a0001c0002t0001g0216 | 1 | 432 | 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 | a0001c0001t0001g0053a0001c0001t0001g0058a0001c0001t0001g0067others(3): Show | 6 | 182 | 0.0330 | 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 | a0001c0001t0001g0102a0001c0001t0001g0110 | 2 | 182 | 0.0110 | 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 | a0001c0001t0001g0097 | 1 | 182 | 0.0055 | 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 | a0001c0001t0001g0108a0001c0001t0001g0115a0001c0001t0001g0141others(2): Show | 5 | 182 | 0.0275 | 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 | a0003c0003t0003g0176a0003c0003t0003g0179a0005c0005t0002g0174others(1): Show | 4 | 182 | 0.0220 | 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 | a0001c0001t0001g0107 | 1 | 182 | 0.0055 | 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 | a0001c0001t0001g0022a0003c0003t0003g0176a0003c0003t0003g0178 | 3 | 182 | 0.0165 | 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 | a0001c0001t0001g0071a0001c0001t0001g0140 | 2 | 182 | 0.0110 | 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 | a0001c0001t0001g0062a0001c0001t0001g0068a0001c0001t0001g0129others(5): Show | 8 | 182 | 0.0440 | 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 | a0003c0003t0003g0176 | 1 | 182 | 0.0055 | 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 | a0001c0001t0001g0110 | 1 | 182 | 0.0055 | 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 | 182 | 0.0055 | 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 | a0001c0001t0001g0246 | 1 | 330 | 0.0030 | 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 | a0001c0001t0001g0041a0001c0002t0003g0281 | 2 | 330 | 0.0061 | 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 | a0001c0001t0001g0067a0001c0001t0001g0078a0001c0002t0001g0001others(52): Show | 67 | 330 | 0.2030 | 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 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(39): Show | 43 | 330 | 0.1303 | 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 | a0001c0003t0004g0065 | 1 | 324 | 0.0031 | 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 | a0001c0002t0002g0155a0001c0002t0002g0169 | 2 | 324 | 0.0062 | 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 | a0001c0001t0003g0014a0001c0001t0003g0015a0001c0001t0003g0018others(82): Show | 86 | 240 | 0.3583 | 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(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0003g0013a0001c0001t0003g0032a0001c0001t0003g0033others(24): Show | 27 | 240 | 0.1125 | 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 | a0001c0001t0004g0074a0001c0001t0006g0025a0001c0001t0009g0061others(22): Show | 25 | 240 | 0.1042 | 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 | a0001c0001t0006g0064a0001c0001t0006g0065a0001c0002t0002g0099others(2): Show | 5 | 240 | 0.0208 | 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 | 306 | 0.0033 | 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 | 316 | 0.0032 | 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 |
a0000a0004a0017 | a0000c0039a0004c0006a0004c0010others(1): Show | a0000c0039t0001a0004c0006t0001a0004c0010t0001others(1): Show | a0000c0039t0001g0148a0004c0006t0001g0007a0004c0006t0001g0016others(12): Show | 15 | 185 | 0.0811 | 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 |
a0002a0009 | a0002c0002a0009c0014 | a0002c0002t0001a0009c0014t0002 | a0002c0002t0001g0087a0002c0002t0001g0088a0009c0014t0002g0075 | 3 | 223 | 0.0135 | 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 |
a0002a0014 | a0002c0002a0014c0018 | a0002c0002t0001a0014c0018t0001 | a0002c0002t0001g0222a0014c0018t0001g0060 | 2 | 223 | 0.0090 | 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 | a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0033others(27): Show | 46 | 436 | 0.1055 | 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 | a0001c0001t0001g0004a0001c0001t0001g0029a0001c0001t0001g0128others(30): Show | 37 | 450 | 0.0822 | 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 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(9): Show | 101 | 372 | 0.2715 | 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 | a0001c0001t0001g0015a0001c0001t0002g0015a0001c0001t0002g0028others(2): Show | 8 | 394 | 0.0203 | 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 | a0001c0001t0002g0204a0001c0001t0002g0205a0001c0001t0002g0206others(6): Show | 15 | 428 | 0.0351 | 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(107): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0011others(50): Show | 110 | 428 | 0.2570 | 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 | a0001c0001t0001g0014a0001c0001t0001g0089a0001c0001t0001g0090others(3): Show | 10 | 428 | 0.0234 | 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 | a0001c0001t0006g0010a0001c0001t0006g0047a0001c0001t0006g0048others(5): Show | 16 | 428 | 0.0374 | 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 | a0001c0001t0001g0113a0001c0001t0001g0130a0001c0001t0001g0131others(1): Show | 4 | 258 | 0.0155 | 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 | a0001c0001t0001g0103a0001c0001t0004g0228a0001c0001t0008g0237others(4): Show | 7 | 258 | 0.0271 | 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 | 258 | 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(181): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0023others(180): Show | 184 | 258 | 0.7132 | 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 | a0001c0001t0007g0064a0001c0001t0007g0065a0001c0001t0007g0066others(1): Show | 4 | 258 | 0.0155 | 10 | c.-49 others(21): Show |
ASPH | ENSG00000198363.18 | transcript | ENST00000379454.9 | protein_coding | 4701 | chr8 | TogoVar |