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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHD8_chr14_21380199_21461123 | 21442738 | C | CGGGAGGA others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 150 | 0.0067 | 30 | c.-21 others(51): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | |||||||
CHD8_chr14_21380199_21461123 | 21454162 | A | AAAAAGAA others(23): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0248 | 1 | 54 | 0.0185 | 30 | c.-21 others(49): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | |||||||
CHD9_chr16_53049991_53332497 | 53146419 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02630.hp2 HG02895.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0012a0003c0004 | a0001c0001t0001a0001c0012t0001a0003c0004t0001 | a0001c0001t0001g0088 a0001c0001t0001g0179 a0001c0012t0001g0126 others(1): Show |
4 | 37 | 0.1081 | 30 | c.-16 others(49): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53146419 | G | GTATGTAT others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02015.hp1 HG02027.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0015 | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(3): Show | a0001c0001t0001g0073 a0001c0001t0001g0163 a0001c0001t0003g0016 others(14): Show |
17 | 50 | 0.3400 | 30 | c.-16 others(49): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHIC1_chrX_73558197_73692111 | 73655428 | G | GTGTGTAT others(23): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01123.hp2 HG01243.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 a0001c0001t0002g0078 a0001c0001t0002g0175 others(5): Show |
8 | 206 | 0.0388 | 30 | c.508 others(49): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CHIC1_chrX_73558197_73692111 | 73655526 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02647.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021a0001c0001t0022 | a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 others(10): Show |
13 | 202 | 0.0644 | 30 | c.508 others(49): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CHL1_chr3_191763_414417 | 322643 | A | AAAATATA others(23): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 288 | 0.0035 | 30 | c.91+ others(45): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 322645 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03139.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0025a0002c0002t0004 | a0001c0001t0025g0103 a0002c0002t0004g0290 |
2 | 142 | 0.0141 | 30 | c.91+ others(45): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 322645 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0021 | a0021c0027 | a0021c0027t0054 | a0021c0027t0054g0110 | 1 | 141 | 0.0071 | 30 | c.91+ others(45): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHMP4A_chr14_24204615_24218488 | 24209213 | A | AAAGCTAC others(23): Show |
downstream_gene_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 416 | 0.0024 | 30 | c.*66 others(39): Show |
CHMP4A | ENSG00000254505.11 | transcript | ENST00000347519.12 | protein_coding | 401 | chr14 | TogoVar | |||||||
CHMP4C_chr8_81727448_81764515 | 81751282 | G | GAATTGTG others(23): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01258.hp2 HG01496.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0096 a0001c0001t0001g0172 |
5 | 406 | 0.0123 | 30 | c.191 others(47): Show |
CHMP4C | ENSG00000164695.5 | transcript | ENST00000297265.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHMP7_chr8_23238637_23266999 | 23241367 | C | CTTTTTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0164 | 1 | 58 | 0.0172 | 30 | c.-29 others(41): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 2269 | chr8 | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85856289 | T | TAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 113 | 0.0088 | 30 | c.*83 others(41): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4890 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85871320 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0236 | 1 | 232 | 0.0043 | 30 | c.177 others(49): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 14/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85913332 | A | AAGAAAGA others(23): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 45 | 0.0222 | 30 | c.116 others(49): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85949978 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03516.hp2 NA18972.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(1): Show | a0001c0001t0001g0233 a0001c0001t0004g0129 a0001c0001t0016g0230 others(1): Show |
4 | 20 | 0.2000 | 30 | c.116 others(49): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85981204 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0194 | 1 | 238 | 0.0042 | 30 | c.189 others(45): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 3/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85981206 | C | CTATATAT others(23): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0017 | a0001c0001t0007g0220 a0001c0001t0017g0238 |
2 | 181 | 0.0110 | 30 | c.189 others(45): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 3/14 | chrX | TogoVar | |||||||
CHN1_chr2_174793809_175010381 | 174847773 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0261 | 1 | 70 | 0.0143 | 30 | c.550 others(45): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 6/12 | chr2 | TogoVar | |||||||
CHN2_chr7_29189775_29519328 | 29195629 | A | AGAGAGAG others(23): Show |
intron_variant | MODIFIER | HG02055.hp2 NA19082.hp1 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0003a0003c0007t0013 | a0001c0001t0003g0210 a0003c0007t0013g0171 |
2 | 120 | 0.0167 | 30 | c.49+ others(43): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29212994 | C | CACTCAGA others(23): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01069.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0003g0226 others(10): Show |
13 | 230 | 0.0565 | 30 | c.49+ others(47): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29252578 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA18972.hp2 NA18998.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0002a0002c0004t0001 | a0001c0002t0002g0183 a0002c0004t0001g0184 |
2 | 118 | 0.0169 | 30 | c.49+ others(47): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29273349 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0191 | 1 | 219 | 0.0046 | 30 | c.49+ others(47): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHODL_chr21_18239833_18272370 | 18251664 | A | ATTTATTT others(23): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 400 | 0.0025 | 30 | c.80- others(45): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110705304 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0005 | 1 | 146 | 0.0068 | 30 | c.542 others(47): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 6/11 | chrX | TogoVar | |||||||
CHRFAM7A_chr15_30355566_30398540 | 30393857 | C | CTGTGTGT others(23): Show |
upstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 95 | 0.0105 | 30 | c.-76 others(39): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 318 | chr15 | TogoVar | |||||||
CHRM1_chr11_62903679_62926363 | 62924668 | C | CTCTCTCT others(23): Show |
upstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 228 | 0.0044 | 30 | c.-35 others(41): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 3306 | chr11 | TogoVar | |||||||
CHRM2_chr7_136863652_137025213 | 137011215 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02965.hp1 NA20129.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0033a0001c0001t0079 | a0001c0001t0009g0295 a0001c0001t0009g0313 a0001c0001t0033g0113 others(1): Show |
4 | 249 | 0.0161 | 30 | c.-46 others(47): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 137011215 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0057 | 1 | 246 | 0.0041 | 30 | c.-46 others(47): 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(23): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0075 | 1 | 49 | 0.0204 | 30 | c.-46 others(41): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3513 | chr1 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239580704 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 96 | 0.0104 | 30 | c.-31 others(51): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239580704 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03098.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0042a0001c0001t0059 | a0001c0001t0021g0093 a0001c0001t0042g0080 a0001c0001t0059g0001 |
3 | 98 | 0.0306 | 30 | c.-31 others(51): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239662893 | C | CTCCTCTT others(23): Show |
intron_variant | MODIFIER | HG01433.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0002g0014 |
2 | 8 | 0.2500 | 30 | c.-24 others(51): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239662893 | C | CTCTTCTT others(23): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03540.hp2 NA18939.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0036 | a0001c0001t0002g0048 a0001c0001t0003g0060 a0001c0001t0036g0018 |
3 | 9 | 0.3333 | 30 | c.-24 others(51): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239684748 | G | GAAAGAAA others(23): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18955.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0048 a0001c0001t0017g0004 |
2 | 74 | 0.0270 | 30 | c.-14 others(49): 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(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01496.hp1 HG02735.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0048others(1): Show | a0001c0001t0001g0056 a0001c0001t0003g0066 a0001c0001t0048g0108 others(1): Show |
4 | 101 | 0.0396 | 30 | c.-14 others(49): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63351240 | G | GTCCACAT others(23): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0106 | 1 | 53 | 0.0189 | 30 | c.384 others(45): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 4/5 | chr20 | TogoVar | |||||||
CHRNA7_chr15_32025515_32178018 | 32070669 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG03195.hp1 NA20129.hp2 |
a0001 | a0001c0004 | a0001c0004t0008a0001c0004t0017 | a0001c0004t0008g0195 a0001c0004t0017g0183 |
2 | 10 | 0.2000 | 30 | c.196 others(49): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32138731 | A | ATGTTTTG others(23): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0291 | 1 | 44 | 0.0227 | 30 | c.351 others(49): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32170743 | A | ACCCCCCC others(23): Show |
3_prime_UTR_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0011 | a0001c0011t0046 | a0001c0011t0046g0120 | 1 | 306 | 0.0033 | 30 | c.*22 others(41): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 10/10 | 2288 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNB3_chr8_42692366_42742407 | 42703435 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02148.hp1 HG02155.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0010 | a0001c0001t0002g0010 a0001c0001t0002g0182 a0001c0001t0002g0183 others(5): Show |
9 | 175 | 0.0514 | 30 | c.53- others(45): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42703435 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213 | 1 | 167 | 0.0060 | 30 | c.53- others(45): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42703435 | A | AAAATATA others(23): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0159 a0001c0001t0007g0233 |
2 | 168 | 0.0119 | 30 | c.53- others(45): 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(23): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0030 | 1 | 279 | 0.0036 | 30 | c.53- others(45): 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(23): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG03654.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0002g0156 others(2): Show |
5 | 20 | 0.2500 | 30 | c.249 others(47): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHST13_chr3_126519155_126548291 | 126535061 | C | CACACAGA others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00558.hp1 others(97): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0115 a0001c0001t0001g0122 a0002c0002t0001g0002 others(29): Show |
100 | 362 | 0.2762 | 30 | c.98- others(45): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHST13_chr3_126519155_126548291 | 126535083 | C | CCAGCCGG others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(246): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0005a0003c0007others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(90): Show |
249 | 262 | 0.9504 | 30 | c.98- others(45): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHST13_chr3_126519155_126548291 | 126535088 | C | CGGGAGAC others(23): Show |
intron_variant | MODIFIER | NA18953.hp2 NA18977.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0123 a0002c0002t0001g0130 |
2 | 362 | 0.0055 | 30 | c.98- others(45): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHST15_chr10_124002668_124098598 | 124045112 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02074.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0027 a0001c0001t0003g0102 |
2 | 280 | 0.0071 | 30 | c.547 others(45): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 2/7 | chr10 | TogoVar | |||||||
CHST2_chr3_143114771_143129014 | 143120959 | T | TGGGGGGG others(23): Show |
conservative_inframe_insertion | MODERATE | NA18997.hp1 | a0006 | a0006c0011 | a0006c0011t0003 | a0006c0011t0003g0001 | 1 | 462 | 0.0022 | 30 | c.144 others(37): Show |
p.Met others(41): Show |
CHST2 | ENSG00000175040.6 | transcript | ENST00000309575.5 | protein_coding | 2/2 | 1089/4142 | 145/1593 | 49/530 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |