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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHD1_chr5_98848985_98934007 | 98911146 | A | AAAATATA others(23): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0080a0002c0002t0002g0082 | 2 | 334 | 0.0060 | 30 | c.54- others(45): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | ||||||
CHD3_chr17_7883789_7917755 | 7885307 | C | CCCGCCGC others(23): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG01099.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0044others(3): Show | 7 | 366 | 0.0191 | 30 | c.-36 others(41): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 3481 | chr17 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60678764 | C | CGCGGCGG others(23): Show |
5_prime_UTR_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0065 | 1 | 236 | 0.0042 | 30 | c.-46 others(39): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62642 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
CHD8_chr14_21380199_21461123 | 21442738 | C | CGGGAGGA others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 260 | 0.0039 | 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 | 260 | 0.0039 | 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 | a0001c0001t0001g0068a0001c0001t0001g0178a0001c0012t0001g0132others(1): Show | 4 | 238 | 0.0168 | 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 | a0001c0001t0001g0075a0001c0001t0001g0099a0001c0001t0003g0016others(14): Show | 17 | 238 | 0.0714 | 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 | a0001c0001t0002g0078a0001c0001t0002g0178a0001c0001t0002g0179others(5): Show | 8 | 208 | 0.0385 | 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 | a0001c0001t0003g0063a0001c0001t0003g0064a0001c0001t0003g0065others(10): Show | 13 | 208 | 0.0625 | 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 | 290 | 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 | a0001c0001t0025g0103a0002c0002t0004g0290 | 2 | 290 | 0.0069 | 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 | a0017 | a0017c0027 | a0017c0027t0054 | a0017c0027t0054g0110 | 1 | 290 | 0.0035 | 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 | 418 | 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 | a0001c0001t0001g0017a0001c0001t0001g0095a0001c0001t0001g0198 | 5 | 408 | 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 | a0001c0001t0011g0170 | 1 | 438 | 0.0023 | 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 | a0001c0001t0001g0109 | 1 | 245 | 0.0041 | 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 | a0001c0001t0004 | a0001c0001t0004g0236 | 1 | 245 | 0.0041 | 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 | a0001c0001t0001g0085 | 1 | 245 | 0.0041 | 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 | a0001c0001t0001a0001c0001t0005a0001c0001t0019others(1): Show | a0001c0001t0001g0232a0001c0001t0005g0136a0001c0001t0019g0078others(1): Show | 4 | 245 | 0.0163 | 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 | a0001c0001t0009g0196 | 1 | 245 | 0.0041 | 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 | a0001c0001t0007a0001c0001t0021 | a0001c0001t0007g0075a0001c0001t0021g0244 | 2 | 245 | 0.0082 | 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 | 276 | 0.0036 | 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 | a0001c0001t0003g0014a0003c0007t0013g0013 | 2 | 232 | 0.0086 | 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 | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0003g0231others(10): Show | 13 | 232 | 0.0560 | 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 | a0001c0002t0002g0030a0002c0004t0001g0031 | 2 | 232 | 0.0086 | 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 | a0001c0002t0002g0027 | 1 | 232 | 0.0043 | 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 | a0001c0001t0001g0203 | 1 | 402 | 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 | a0001c0001t0036 | a0001c0001t0036g0003 | 1 | 172 | 0.0058 | 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 | a0001c0001t0001g0003 | 1 | 133 | 0.0075 | 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 | 420 | 0.0024 | 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 | a0001c0001t0009g0295a0001c0001t0009g0313a0001c0001t0033g0113others(1): Show | 4 | 320 | 0.0125 | 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 | 320 | 0.0031 | 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 | a0001c0001t0014 | a0001c0001t0014g0075 | 1 | 116 | 0.0086 | 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 | 116 | 0.0086 | 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 | a0001c0001t0021a0001c0001t0042a0001c0001t0060 | a0001c0001t0021g0093a0001c0001t0042g0080a0001c0001t0060g0001 | 3 | 116 | 0.0259 | 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 | a0001c0001t0001a0001c0001t0045 | a0001c0001t0001g0013a0001c0001t0045g0014 | 2 | 116 | 0.0172 | 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 | a0001c0001t0002a0001c0001t0003a0001c0001t0033 | a0001c0001t0002g0048a0001c0001t0003g0057a0001c0001t0033g0018 | 3 | 116 | 0.0259 | 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 | a0001c0001t0002g0048a0001c0001t0017g0004 | 2 | 116 | 0.0172 | 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 | a0001c0001t0001a0001c0001t0003a0001c0001t0049others(1): Show | a0001c0001t0001g0056a0001c0001t0003g0066a0001c0001t0049g0108others(1): Show | 4 | 116 | 0.0345 | 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 | a0001c0005t0001g0072 | 1 | 168 | 0.0060 | 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 | a0001c0004t0008g0194a0001c0004t0017g0182 | 2 | 307 | 0.0065 | 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 | a0001c0014t0001g0292 | 1 | 307 | 0.0033 | 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 | a0001c0011t0048 | a0001c0011t0048g0119 | 1 | 307 | 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 | a0001c0001t0002g0006a0001c0001t0002g0181a0001c0001t0002g0182others(5): Show | 9 | 282 | 0.0319 | 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 | a0001c0001t0002g0212 | 1 | 282 | 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 | 42703435 | A | AAAATATA others(23): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0158a0001c0001t0007g0238 | 2 | 282 | 0.0071 | 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 | a0001c0004t0007g0025 | 1 | 282 | 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 | a0001c0001t0001g0093a0001c0001t0001g0094a0001c0001t0002g0155others(2): Show | 5 | 282 | 0.0177 | 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(98): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0122a0001c0001t0001g0128a0002c0002t0001g0002others(31): Show | 101 | 364 | 0.2775 | 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 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(94): Show | 249 | 364 | 0.6841 | 30 | c.98- others(45): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |