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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHEK2_chr22_28682743_28746820 | 28702135 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 384 | 0.0026 | 20 | c.908 others(37): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 8/14 | chr22 | TogoVar | |||||||
CHEK2_chr22_28682743_28746820 | 28705968 | A | AAAACTAA others(13): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01243.hp2 HG01891.hp1 others(12): Show |
a0001a0010 | a0001c0001a0010c0013 | a0001c0001t0001a0010c0013t0001 | a0001c0001t0001g0015 a0001c0001t0001g0155 a0001c0001t0001g0225 others(12): Show |
15 | 384 | 0.0391 | 20 | c.847 others(37): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 7/14 | chr22 | TogoVar | |||||||
CHI3L2_chr1_111222713_111248440 | 111245350 | T | TCTAATTG others(13): Show |
downstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0008 | 1 | 434 | 0.0023 | 20 | c.*21 others(31): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 1911 | chr1 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 194897 | A | ATCCTTCC others(13): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0107 | 1 | 290 | 0.0035 | 20 | c.-23 others(31): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1865 | chr3 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 260263 | C | CAAATAAA others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02809.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0037a0003c0003t0001 | a0001c0001t0037g0238 a0003c0003t0001g0106 |
2 | 290 | 0.0069 | 20 | c.-95 others(39): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 333124 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02615.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0004 | a0001c0001t0002g0230 a0002c0002t0004g0008 |
2 | 290 | 0.0069 | 20 | c.385 others(37): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 349937 | T | TTTTGCTT others(13): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02109.hp2 others(4): Show |
a0003a0004a0007 | a0003c0003a0004c0004a0007c0008 | a0003c0003t0006a0003c0003t0008a0004c0004t0016others(3): Show | a0003c0003t0006g0107 a0003c0003t0008g0076 a0004c0004t0016g0126 others(4): Show |
7 | 290 | 0.0241 | 20 | c.103 others(37): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHMP6_chr17_80986841_81005133 | 80988884 | G | GGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0016 a0001c0001t0010g0074 |
2 | 438 | 0.0046 | 20 | c.-30 others(31): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 2956 | chr17 | TogoVar | |||||||
CHMP7_chr8_23238637_23266999 | 23241367 | C | CTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0166 | 1 | 438 | 0.0023 | 20 | c.-29 others(31): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 2269 | chr8 | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85856289 | T | TAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0223 | 1 | 245 | 0.0041 | 20 | c.*83 others(31): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4890 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85871320 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0222 a0001c0001t0006g0223 |
2 | 245 | 0.0082 | 20 | c.177 others(39): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 14/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85913332 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01167.hp1 HG01169.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0084 a0001c0001t0001g0160 a0001c0001t0001g0172 others(5): Show |
8 | 245 | 0.0327 | 20 | c.116 others(39): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85949978 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG01934.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0124 others(15): Show |
18 | 245 | 0.0735 | 20 | c.116 others(39): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85981206 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0220 a0001c0001t0006g0221 a0001c0001t0006g0222 others(1): Show |
4 | 245 | 0.0163 | 20 | c.189 others(35): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 3/14 | chrX | TogoVar | |||||||
CHN1_chr2_174793809_175010381 | 174847773 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0040 | 1 | 276 | 0.0036 | 20 | c.550 others(35): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 6/12 | chr2 | TogoVar | |||||||
CHN1_chr2_174793809_175010381 | 174858979 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 276 | 0.0036 | 20 | c.550 others(39): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 6/12 | chr2 | TogoVar | |||||||
CHN2_chr7_29189775_29519328 | 29195595 | C | CGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 232 | 0.0043 | 20 | c.49+ others(33): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29195629 | A | AGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0027 | 1 | 232 | 0.0043 | 20 | c.49+ others(33): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29195629 | A | AGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG01175.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012 | a0001c0001t0006g0039 a0001c0001t0012g0040 |
2 | 232 | 0.0086 | 20 | c.49+ others(33): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29195629 | A | AGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02723.hp1 HG03579.hp1 |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0027 | a0001c0002t0010g0061 a0001c0002t0010g0062 a0001c0002t0027g0060 |
3 | 232 | 0.0129 | 20 | c.49+ others(33): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29195629 | A | AGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079 | 1 | 232 | 0.0043 | 20 | c.49+ others(33): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29233825 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0017 | a0001c0001t0001g0064 a0002c0004t0017g0128 |
2 | 232 | 0.0086 | 20 | c.49+ others(37): 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(13): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02273.hp2 HG02293.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0003g0093 a0001c0001t0003g0138 a0001c0001t0006g0145 others(3): Show |
6 | 232 | 0.0259 | 20 | c.49+ others(37): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29252586 | T | TTTTTGTT others(13): Show |
intron_variant | MODIFIER | NA18970.hp2 NA18984.hp1 NA19084.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0023a0001c0002t0004 | a0001c0001t0003g0111 a0001c0001t0023g0206 a0001c0002t0004g0207 |
3 | 232 | 0.0129 | 20 | c.49+ others(37): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29268283 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02135.hp2 HG02647.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0003g0097 a0001c0001t0005g0221 a0001c0001t0007g0116 others(5): Show |
8 | 232 | 0.0345 | 20 | c.49+ others(37): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29273351 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0194 | 1 | 232 | 0.0043 | 20 | c.49+ others(37): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29295314 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0027 | 1 | 232 | 0.0043 | 20 | c.50- others(37): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29374801 | T | TTTCCTTC others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG02080.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0103 a0001c0001t0003g0049 a0001c0001t0005g0018 others(8): Show |
11 | 232 | 0.0474 | 20 | c.144 others(37): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29437597 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01517.hp2 NA18982.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0002c0004t0001 | a0001c0001t0005g0023 a0002c0004t0001g0038 |
2 | 232 | 0.0086 | 20 | c.576 others(39): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHP2_chr16_23750026_23763935 | 23759381 | C | CTTCTTTC others(13): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG01099.hp1 others(21): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 others(4): Show |
24 | 392 | 0.0612 | 20 | c.*17 others(31): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 447 | chr16 | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110689985 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0040 | 1 | 172 | 0.0058 | 20 | c.779 others(37): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110705304 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0165 | 1 | 172 | 0.0058 | 20 | c.542 others(37): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 6/11 | chrX | TogoVar | |||||||
CHRDL1_chrX_110668856_110800817 | 110747409 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0171 | 1 | 172 | 0.0058 | 20 | c.301 others(39): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 4/11 | chrX | TogoVar | |||||||
CHRD_chr3_184375054_184394829 | 184390191 | T | TCCCTCCC others(13): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0025 | a0002c0025t0001 | a0002c0025t0001g0135 | 1 | 428 | 0.0023 | 20 | c.*76 others(29): Show |
CHRD | ENSG00000090539.16 | transcript | ENST00000204604.6 | protein_coding | 363 | chr3 | TogoVar | |||||||
CHRFAM7A_chr15_30355566_30398540 | 30393857 | C | CTGTGTGT others(13): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 HG04115.hp1 |
a0001a0003 | a0001c0024a0003c0003 | a0001c0024t0028a0003c0003t0002 | a0001c0024t0028g0103 a0003c0003t0002g0014 |
2 | 133 | 0.0150 | 20 | c.-76 others(29): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 318 | chr15 | TogoVar | |||||||
CHRM1_chr11_62903679_62926363 | 62924629 | G | GCTCTCTC others(13): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 420 | 0.0024 | 20 | c.-34 others(31): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 3267 | chr11 | TogoVar | |||||||
CHRM1_chr11_62903679_62926363 | 62924666 | C | CTATATAT others(13): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 420 | 0.0024 | 20 | c.-35 others(31): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 3304 | chr11 | TogoVar | |||||||
CHRM1_chr11_62903679_62926363 | 62924668 | C | CTATATAT others(13): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 NA19065.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0003 | a0001c0001t0001g0001 a0002c0004t0003g0051 |
2 | 420 | 0.0048 | 20 | c.-35 others(31): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 3306 | chr11 | TogoVar | |||||||
CHRM1_chr11_62903679_62926363 | 62924668 | C | CTCTCTCT others(13): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG02155.hp2 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0036 |
3 | 420 | 0.0071 | 20 | c.-35 others(31): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 3306 | chr11 | TogoVar | |||||||
CHRM1_chr11_62903679_62926363 | 62924668 | C | CTCTCTCT others(13): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | 20 | c.-35 others(31): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 3306 | chr11 | TogoVar | |||||||
CHRM1_chr11_62903679_62926363 | 62924668 | C | CTCTCTCT others(13): Show |
upstream_gene_variant | MODIFIER | HG02083.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0086 |
2 | 420 | 0.0048 | 20 | c.-35 others(31): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 3306 | chr11 | TogoVar | |||||||
CHRM2_chr7_136863652_137025213 | 136916148 | T | TATACCAT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG00735.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(42): Show |
45 | 320 | 0.1406 | 20 | c.-12 others(41): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 136921790 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18982.hp2 NA18991.hp1 NA19066.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0010a0001c0002t0001 | a0001c0001t0002g0161 a0001c0001t0010g0025 a0001c0002t0001g0027 |
3 | 320 | 0.0094 | 20 | c.-12 others(41): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 136949459 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03516.hp2 HG03579.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014a0001c0001t0023others(1): Show | a0001c0001t0013g0069 a0001c0001t0013g0070 a0001c0001t0014g0093 others(2): Show |
5 | 320 | 0.0156 | 20 | c.-12 others(41): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 137000547 | A | AGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02818.hp1 |
a0001a0004 | a0001c0003a0004c0009 | a0001c0003t0023a0004c0009t0028 | a0001c0003t0023g0218 a0004c0009t0028g0303 |
2 | 320 | 0.0063 | 20 | c.-47 others(37): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 137000547 | A | AGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02015.hp2 HG02523.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 others(21): Show |
24 | 320 | 0.0750 | 20 | c.-47 others(37): 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(13): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0277 | 1 | 320 | 0.0031 | 20 | c.-46 others(37): 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(13): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0006 | a0006c0006 | a0006c0006t0014 | a0006c0006t0014g0259 | 1 | 320 | 0.0031 | 20 | c.-46 others(37): 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(13): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0179 | 1 | 320 | 0.0031 | 20 | c.-46 others(37): 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(13): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 NA18944.hp1 NA19012.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0002g0006 others(2): Show |
5 | 116 | 0.0431 | 20 | c.-46 others(31): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3513 | chr1 | TogoVar |