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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TAF11L8_chr5_17585364_17595960 | 17587287 | G | GTTGAAAT others(1662): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0000 | 1 | 102 | 0.0098 | 1669 | c.*30 others(1680): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3076 | chr5 | TogoVar | |||||||
TAF11L8_chr5_17585364_17595960 | 17587287 | G | GTTGAAAT others(1662): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 102 | 0.0098 | 1669 | c.*30 others(1680): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3076 | chr5 | TogoVar | |||||||
TAF11L8_chr5_17585364_17595960 | 17587287 | G | GTTGAAAT others(1662): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 102 | 0.0098 | 1669 | c.*30 others(1680): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3076 | chr5 | TogoVar | |||||||
TAF11L8_chr5_17585364_17595960 | 17587287 | G | GTTGAAAT others(1662): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 102 | 0.0098 | 1669 | c.*30 others(1680): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3076 | chr5 | TogoVar | |||||||
TAF11L8_chr5_17585364_17595960 | 17587287 | G | GTTGAAAT others(1662): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 102 | 0.0098 | 1669 | c.*30 others(1680): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3076 | chr5 | TogoVar | |||||||
TAF11L8_chr5_17585364_17595960 | 17587287 | G | GTTGAAAT others(1662): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 102 | 0.0098 | 1669 | c.*30 others(1680): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3076 | chr5 | TogoVar | |||||||
TAF11L8_chr5_17585364_17595960 | 17587287 | G | GTTGAAAT others(1662): Show |
downstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 102 | 0.0098 | 1669 | c.*30 others(1680): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3076 | chr5 | TogoVar | |||||||
TAF11L8_chr5_17585364_17595960 | 17587287 | G | GTTGAAAT others(1662): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 102 | 0.0196 | 1669 | c.*30 others(1680): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3076 | chr5 | TogoVar | |||||||
TAF11L8_chr5_17585364_17595960 | 17587287 | G | GTTGAAAT others(1662): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 102 | 0.0098 | 1669 | c.*30 others(1680): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3076 | chr5 | TogoVar | |||||||
TAF11L8_chr5_17585364_17595960 | 17587287 | G | GTTGAAAT others(1662): Show |
downstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 102 | 0.0098 | 1669 | c.*30 others(1680): Show |
TAF11L8 | ENSG00000283967.1 | transcript | ENST00000640803.1 | protein_coding | 3076 | chr5 | TogoVar | |||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1662): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG02071.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 others(1): Show |
4 | 362 | 0.0111 | 1669 | c.266 others(1684): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1662): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02056.hp2 HG02080.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0223 others(28): Show |
33 | 362 | 0.0912 | 1669 | c.266 others(1684): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1662): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 362 | 0.0028 | 1669 | c.266 others(1684): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1662): Show |
intron_variant | MODIFIER | HG02135.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0070 |
2 | 362 | 0.0055 | 1669 | c.266 others(1684): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1662): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01261.hp1 HG01952.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 a0001c0001t0002g0185 a0001c0001t0002g0192 |
3 | 362 | 0.0083 | 1669 | c.266 others(1684): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1662): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 a0001c0001t0001g0200 |
2 | 362 | 0.0055 | 1669 | c.266 others(1684): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1662): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG00673.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0110 others(46): Show |
51 | 362 | 0.1409 | 1669 | c.266 others(1684): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1662): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01255.hp1 HG02258.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0009 | a0001c0001t0001g0012 a0001c0001t0001g0115 a0001c0001t0001g0201 others(11): Show |
14 | 362 | 0.0387 | 1669 | c.266 others(1684): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1662): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 362 | 0.0028 | 1669 | c.266 others(1684): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1662): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 362 | 0.0028 | 1669 | c.266 others(1684): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1662): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 a0001c0001t0002g0184 |
2 | 362 | 0.0055 | 1669 | c.266 others(1684): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1662): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 2 | 362 | 0.0055 | 1669 | c.266 others(1684): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TAX1BP1_chr7_27735162_27834767 | 27765069 | G | GCAGTGGT others(1662): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01891.hp1 HG02738.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0005c0010t0001 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0126 others(3): Show |
6 | 362 | 0.0166 | 1669 | c.266 others(1684): Show |
TAX1BP1 | ENSG00000106052.14 | transcript | ENST00000396319.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1663): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 334 | 0.0030 | 1670 | c.147 others(1687): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1663): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0028 | a0028c0041 | a0028c0041t0001 | a0028c0041t0001g0254 | 1 | 334 | 0.0030 | 1670 | c.147 others(1687): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939826 | G | GAAAAAGA others(1663): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0195 | 1 | 258 | 0.0039 | 1670 | c.403 others(1685): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939826 | G | GAAAAAGA others(1663): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0197 | 1 | 258 | 0.0039 | 1670 | c.403 others(1685): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939884 | A | AAGAAAAA others(1663): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0187 | 1 | 258 | 0.0039 | 1670 | c.403 others(1685): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1663): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01981.hp2 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0004g0266 |
3 | 364 | 0.0082 | 1670 | c.445 others(1685): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 113057440 | A | AAAGAATG others(1663): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 80 | 0.0125 | 1670 | c.918 others(1689): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 5/70 | chr8 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64767113 | T | TTTTACAT others(1663): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0017 | a0017c0014 | a0017c0014t0001 | a0017c0014t0001g0005 | 1 | 24 | 0.0417 | 1670 | c.344 others(1691): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1663): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0017 | 1 | 168 | 0.0060 | 1670 | c.338 others(1689): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399457 | C | CCACACCA others(1663): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0055 | 1 | 314 | 0.0032 | 1670 | c.-25 others(1687): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33648576 | T | TTAAATAC others(1663): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0176 | 1 | 226 | 0.0044 | 1670 | c.576 others(1689): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33648576 | T | TTAAATAC others(1663): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00609.hp2 others(74): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0003a0001c0004others(25): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(45): Show | a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0046 others(74): Show |
77 | 226 | 0.3407 | 1670 | c.576 others(1689): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33648576 | T | TTAAATAC others(1663): Show |
intron_variant | MODIFIER | HG01169.hp2 NA19056.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0001 | a0001c0002t0001g0026 a0001c0007t0001g0021 |
2 | 226 | 0.0089 | 1670 | c.576 others(1689): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33648576 | T | TTAAATAC others(1663): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0092 | a0001c0092t0048 | a0001c0092t0048g0200 | 1 | 226 | 0.0044 | 1670 | c.576 others(1689): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33648576 | T | TTAAATAC others(1663): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03471.hp1 HG03540.hp2 |
a0001a0006 | a0001c0058a0001c0072a0006c0080 | a0001c0058t0031a0001c0072t0049a0006c0080t0029 | a0001c0058t0031g0101 a0001c0072t0049g0177 a0006c0080t0029g0104 |
3 | 226 | 0.0133 | 1670 | c.576 others(1689): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33648576 | T | TTAAATAC others(1663): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02572.hp2 others(8): Show |
a0001a0003 | a0001c0009a0001c0010a0001c0021others(6): Show | a0001c0009t0011a0001c0010t0004a0001c0010t0050others(8): Show | a0001c0009t0011g0091 a0001c0010t0004g0165 a0001c0010t0050g0120 others(8): Show |
11 | 226 | 0.0487 | 1670 | c.576 others(1689): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33648576 | T | TTAAATAC others(1663): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0146 | 1 | 226 | 0.0044 | 1670 | c.576 others(1689): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(1663): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 404 | 0.0025 | 1670 | c.125 others(1687): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(1663): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 404 | 0.0025 | 1670 | c.125 others(1687): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(1663): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 404 | 0.0025 | 1670 | c.125 others(1687): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(1663): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 404 | 0.0025 | 1670 | c.125 others(1687): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1663): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 | 1 | 134 | 0.0075 | 1670 | c.-28 others(1689): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1663): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 322 | 0.0031 | 1670 | c.-93 others(1687): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1663): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 322 | 0.0031 | 1670 | c.-93 others(1687): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SUPV3L1_chr10_69175234_69214093 | 69213563 | A | AAGGCCAC others(1663): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 2 | 354 | 0.0057 | 1670 | c.*45 others(1681): Show |
SUPV3L1 | ENSG00000156502.14 | transcript | ENST00000359655.9 | protein_coding | 4471 | chr10 | TogoVar | |||||||
SUPV3L1_chr10_69175234_69214093 | 69213563 | A | AAGGCCAC others(1663): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 354 | 0.0028 | 1670 | c.*45 others(1681): Show |
SUPV3L1 | ENSG00000156502.14 | transcript | ENST00000359655.9 | protein_coding | 4471 | chr10 | TogoVar | |||||||
SUPV3L1_chr10_69175234_69214093 | 69213563 | A | AAGGCCAC others(1663): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01346.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 a0001c0001t0002g0226 a0001c0001t0002g0228 |
3 | 354 | 0.0085 | 1670 | c.*45 others(1681): Show |
SUPV3L1 | ENSG00000156502.14 | transcript | ENST00000359655.9 | protein_coding | 4471 | chr10 | TogoVar |