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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHRDL1_chrX_110668856_110800817 | 110689061 | A | AATATACA others(15): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0044 | 1 | 118 | 0.0085 | 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 | 228 | 0.0044 | 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 | 228 | 0.0044 | 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 | 228 | 0.0044 | 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 | 122 | 0.0082 | 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 | 246 | 0.0041 | 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 | a0001c0001t0013g0085 a0001c0001t0021g0019 |
2 | 50 | 0.0400 | 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 | a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 others(42): Show |
45 | 114 | 0.3947 | 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 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(1): Show | a0001c0001t0002g0014 a0001c0001t0007g0055 a0001c0001t0010g0103 others(1): Show |
4 | 56 | 0.0714 | 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 | 82 | 0.0122 | 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 | 73 | 0.0137 | 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 | a0001c0001t0001g0008 | 1 | 98 | 0.0102 | 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 | a0001c0001t0014a0001c0001t0056 | a0001c0001t0014g0033 a0001c0001t0056g0084 |
2 | 101 | 0.0198 | 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 | 18 | 0.0556 | 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 | a0002c0002t0006g0019 | 1 | 370 | 0.0027 | 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(43): Show |
a0001a0003 | a0001c0004a0001c0005a0001c0008others(3): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0004others(7): Show | a0001c0004t0001g0115 a0001c0004t0002g0133 a0001c0005t0004g0002 others(26): Show |
46 | 408 | 0.1127 | 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 | a0001c0001t0001g0103 a0001c0002t0001g0001 a0001c0002t0001g0080 others(23): Show |
35 | 120 | 0.2917 | 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 | a0002 | a0002c0006 | a0002c0006t0036 | a0002c0006t0036g0116 | 1 | 154 | 0.0065 | 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 | a0002c0002t0003g0014 a0002c0002t0003g0142 a0002c0002t0003g0143 others(1): Show |
6 | 94 | 0.0638 | 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 | a0001c0001t0021a0001c0004t0043 | a0001c0001t0021g0282 a0001c0004t0043g0175 |
2 | 9 | 0.2222 | 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 | a0001c0007t0008g0214 | 1 | 201 | 0.0050 | 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 | a0001c0001t0006g0215 a0001c0001t0006g0216 |
2 | 168 | 0.0119 | 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 | a0001c0004t0007g0031 | 1 | 279 | 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 | a0001c0001t0001g0044 a0001c0001t0002g0198 |
2 | 17 | 0.1176 | 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(45): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0007a0001c0001t0017others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(23): Show |
48 | 414 | 0.1159 | 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 | a0001c0005t0001g0113 | 1 | 138 | 0.0072 | 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 | a0001c0001t0001g0234 a0001c0001t0003g0026 a0001c0001t0021g0197 |
3 | 94 | 0.0319 | 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 | a0001c0001t0001g0137 a0001c0001t0002g0085 a0001c0001t0002g0110 others(14): Show |
17 | 174 | 0.0977 | 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 | a0001c0001t0001g0116 | 1 | 169 | 0.0059 | 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 | a0001c0003t0001g0117 | 1 | 28 | 0.0357 | 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 | a0001c0001t0004g0111 | 1 | 238 | 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 | a0001c0001t0054g0003 a0001c0001t0063g0060 a0001c0001t0068g0061 |
3 | 40 | 0.0750 | 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 | 72 | 0.0139 | 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 | a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0002g0136 others(2): Show |
5 | 283 | 0.0177 | 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 | a0001c0001t0001g0114 | 1 | 252 | 0.0040 | 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 | 232 | 0.0043 | 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 | a0001c0001t0001g0139 | 1 | 232 | 0.0043 | 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 | 181 | 0.0055 | 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 | a0001c0002t0001g0157 | 1 | 222 | 0.0045 | 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 | a0001c0001t0003g0107 a0001c0001t0003g0129 a0001c0001t0003g0135 others(3): Show |
6 | 205 | 0.0293 | 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 | 420 | 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 | 240 | 0.0042 | 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 | 273 | 0.0037 | 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 | a0006c0006t0001g0030 | 1 | 246 | 0.0041 | 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 | a0002c0002t0001g0025 a0002c0002t0001g0209 |
4 | 426 | 0.0094 | 22 | c.217 others(39): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHTOP_chr1_153629066_153651306 | 153651190 | G | GATATATA others(15): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 369 | 0.0027 | 22 | c.*59 others(33): Show |
CHTOP | ENSG00000160679.14 | transcript | ENST00000368694.8 | protein_coding | 4885 | chr1 | TogoVar | |||||||
CIB2_chr15_78099606_78136445 | 78108902 | T | TGCGCCCT others(15): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02615.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0002g0092 |
3 | 388 | 0.0077 | 22 | c.346 others(37): Show |
CIB2 | ENSG00000136425.14 | transcript | ENST00000258930.8 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26617147 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 297 | 0.0034 | 22 | c.186 others(41): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
CIBAR1_chr8_93695550_93736527 | 93697749 | T | TATATATA others(15): Show |
upstream_gene_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 370 | 0.0027 | 22 | c.-28 others(33): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 2800 | chr8 | TogoVar | |||||||
CIBAR1_chr8_93695550_93736527 | 93697754 | A | ATATATAT others(15): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00738.hp2 HG00741.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0015 others(11): Show |
38 | 230 | 0.1652 | 22 | c.-28 others(33): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 2795 | chr8 | TogoVar |