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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHN2_chr7_29189775_29519328 | 29405164 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02135.hp2 NA19030.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0002t0014a0002c0003t0004 | a0001c0001t0003g0097a0001c0002t0014g0067a0002c0003t0004g0110 | 3 | 232 | 0.0129 | 22 | c.576 others(39): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29437597 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01167.hp1 NA18942.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0005a0001c0001t0007a0001c0002t0004others(1): Show | a0001c0001t0005g0133a0001c0001t0007g0003a0001c0002t0004g0199others(1): Show | 4 | 232 | 0.0172 | 22 | c.576 others(41): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29442934 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01981.hp2 HG02109.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0191a0001c0001t0003g0058a0001c0001t0006g0020others(4): Show | 7 | 232 | 0.0302 | 22 | c.577 others(41): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHP2_chr16_23750026_23763935 | 23759379 | C | CCTCTTTC others(15): Show |
downstream_gene_variant | MODIFIER | HG03492.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 392 | 0.0051 | 22 | c.*17 others(33): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 445 | chr16 | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110674457 | C | CCACACAC others(15): Show |
3_prime_UTR_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0045 | 1 | 172 | 0.0058 | 22 | c.*17 others(33): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 12/12 | 1773 | chrX | TogoVar | |||||
CHRDL1_chrX_110668856_110800817 | 110689061 | A | AATATACA others(15): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0042 | 1 | 172 | 0.0058 | 22 | c.779 others(37): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRM1_chr11_62903679_62926363 | 62924668 | C | CTCTATAT others(15): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | 22 | c.-35 others(33): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 3306 | chr11 | TogoVar | ||||||
CHRM1_chr11_62903679_62926363 | 62924668 | C | CTCTCTAT others(15): Show |
upstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | 22 | c.-35 others(33): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 3306 | chr11 | TogoVar | ||||||
CHRM1_chr11_62903679_62926363 | 62924668 | C | CTCTCTCT others(15): Show |
upstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 420 | 0.0024 | 22 | c.-35 others(33): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 3306 | chr11 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 136930898 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0318 | 1 | 320 | 0.0031 | 22 | c.-12 others(43): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHRM2_chr7_136863652_137025213 | 137011215 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0041 | 1 | 320 | 0.0031 | 22 | c.-46 others(39): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239383054 | G | GTCTCTCT others(15): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0021 | a0001c0001t0013g0085a0001c0001t0021g0019 | 2 | 116 | 0.0172 | 22 | c.-46 others(33): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3513 | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239399736 | C | CATTCTTC others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00639.hp1 others(42): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0052a0001c0001t0001g0054a0001c0001t0001g0056others(42): Show | 45 | 116 | 0.3879 | 22 | c.-52 others(43): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239580689 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01515.hp2 HG02735.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0045others(1): Show | a0001c0001t0007g0055a0001c0001t0010g0103a0001c0001t0045g0014others(1): Show | 4 | 116 | 0.0345 | 22 | c.-31 others(43): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239602110 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 116 | 0.0086 | 22 | c.-31 others(43): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239684748 | G | GAAAGAAA others(15): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0050 | 1 | 116 | 0.0086 | 22 | c.-14 others(41): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239684770 | G | GAAAGAAA others(15): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 116 | 0.0086 | 22 | c.-14 others(41): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239766704 | T | TATAGATA others(15): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0057 | a0001c0001t0015g0033a0001c0001t0057g0084 | 2 | 116 | 0.0172 | 22 | c.-14 others(43): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239813916 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0020 | 1 | 116 | 0.0086 | 22 | c.-14 others(43): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRNA10_chr11_3660587_3676384 | 3663076 | A | ATCTCATC others(15): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0020 | 1 | 450 | 0.0022 | 22 | c.*30 others(33): Show |
CHRNA10 | ENSG00000129749.3 | transcript | ENST00000250699.2 | protein_coding | 2510 | chr11 | TogoVar | ||||||
CHRNA3_chr15_78590309_78625996 | 78620368 | T | TGCGCGGG others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(44): Show |
a0001a0003 | a0001c0004a0001c0005a0001c0008others(3): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0004others(7): Show | a0001c0004t0001g0116a0001c0004t0002g0134a0001c0005t0004g0002others(28): Show | 47 | 410 | 0.1146 | 22 | c.82+ others(35): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63359903 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(7): Show | a0001c0001t0001g0066a0001c0002t0001g0001a0001c0002t0001g0010others(25): Show | 35 | 168 | 0.2083 | 22 | c.77- others(35): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 1/5 | chr20 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63359907 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0000 | a0000c0006 | a0000c0006t0028 | a0000c0006t0028g0079 | 1 | 168 | 0.0060 | 22 | c.77- others(35): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 1/5 | chr20 | TogoVar | ||||||
CHRNA5_chr15_78560520_78600269 | 78570424 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18942.hp2 NA18944.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0014a0002c0002t0003g0183a0002c0002t0003g0184others(1): Show | 6 | 382 | 0.0157 | 22 | c.106 others(39): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA7_chr15_32025515_32178018 | 32098871 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | NA18977.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0020a0001c0004t0044 | a0001c0001t0020g0283a0001c0004t0044g0174 | 2 | 307 | 0.0065 | 22 | c.196 others(39): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA7_chr15_32025515_32178018 | 32114059 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0007 | a0001c0007t0008 | a0001c0007t0008g0215 | 1 | 307 | 0.0033 | 22 | c.350 others(39): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNB3_chr8_42692366_42742407 | 42703435 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0214a0001c0001t0006g0215 | 2 | 282 | 0.0071 | 22 | c.53- others(37): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHRNB3_chr8_42692366_42742407 | 42703458 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0026 | 1 | 282 | 0.0036 | 22 | c.53- others(37): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHRNB3_chr8_42692366_42742407 | 42717403 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038a0001c0001t0002g0197 | 2 | 282 | 0.0071 | 22 | c.249 others(39): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHRNB4_chr15_78619111_78646210 | 78620368 | T | TGCGCGGG others(15): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(46): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0007a0001c0001t0017others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0010others(24): Show | 49 | 416 | 0.1178 | 22 | c.*47 others(33): Show |
CHRNB4 | ENSG00000117971.12 | transcript | ENST00000261751.8 | protein_coding | 3742 | chr15 | TogoVar | ||||||
CHRNB4_chr15_78619111_78646210 | 78626341 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0121 | 1 | 416 | 0.0024 | 22 | c.133 others(41): Show |
CHRNB4 | ENSG00000117971.12 | transcript | ENST00000261751.8 | protein_coding | 5/5 | chr15 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104475658 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02155.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0021 | a0001c0001t0001g0234a0001c0001t0003g0027a0001c0001t0021g0197 | 3 | 240 | 0.0125 | 22 | c.118 others(41): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104475688 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00735.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0135a0001c0001t0002g0083a0001c0001t0002g0108others(14): Show | 17 | 240 | 0.0708 | 22 | c.118 others(41): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104544138 | A | AAGAAAGA others(15): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 240 | 0.0042 | 22 | c.119 others(41): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104553568 | C | CGAGAGAG others(15): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0115 | 1 | 240 | 0.0042 | 22 | c.119 others(41): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104643485 | A | ATGGTAGG others(15): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0109 | 1 | 240 | 0.0042 | 22 | c.204 others(41): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104722155 | A | AGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02559.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0054a0001c0001t0063a0001c0001t0068 | a0001c0001t0054g0003a0001c0001t0063g0058a0001c0001t0068g0059 | 3 | 240 | 0.0125 | 22 | c.205 others(41): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104750428 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0184 | 1 | 240 | 0.0042 | 22 | c.205 others(39): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST15_chr10_124002668_124098598 | 124045112 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01975.hp2 HG02293.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0143a0001c0001t0001g0161a0001c0001t0002g0145others(2): Show | 5 | 392 | 0.0128 | 22 | c.547 others(37): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 2/7 | chr10 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33757091 | G | GAAGAGCA others(15): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 254 | 0.0039 | 22 | c.131 others(41): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33757468 | A | AAGAGAGA others(15): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 254 | 0.0039 | 22 | c.131 others(41): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33757515 | A | AAGGAAGG others(15): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 254 | 0.0039 | 22 | c.131 others(41): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33757522 | G | GAAAGAAA others(15): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 254 | 0.0039 | 22 | c.131 others(41): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33765053 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0159 | 1 | 254 | 0.0039 | 22 | c.131 others(39): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33765070 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01261.hp1 HG01433.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0110a0001c0001t0003g0131a0001c0001t0003g0137others(3): Show | 6 | 254 | 0.0236 | 22 | c.131 others(39): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHSY1_chr15_101170727_101257048 | 101251478 | G | GCCGCCGC others(15): Show |
5_prime_UTR_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0003 | a0001c0003t0054 | a0001c0003t0054g0314 | 1 | 422 | 0.0024 | 22 | c.-23 others(29): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 1/3 | 23 | chr15 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130143756 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0243 | 1 | 276 | 0.0036 | 22 | c.108 others(43): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130143820 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0069 | 1 | 276 | 0.0036 | 22 | c.108 others(43): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHTF18_chr16_783620_803074 | 795580 | G | GCGGCCCC others(15): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0077 | 1 | 428 | 0.0023 | 22 | c.217 others(39): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHTF18_chr16_783620_803074 | 795581 | C | CCGCCCCG others(15): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 HG02004.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014a0002c0002t0001g0233 | 4 | 428 | 0.0094 | 22 | c.217 others(39): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |