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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHL1_chr3_191763_414417 | 252401 | T | TATATATA | intron_variant | MODIFIER | HG02602.hp1 HG02809.hp1 NA18964.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0001 | a0001c0001t0002g0119a0001c0001t0002g0192a0003c0003t0001g0106 | 3 | 290 | 0.0103 | 7 | c.-95 others(24): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 333124 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01258.hp1 others(6): Show |
a0001a0004a0012others(2): Show | a0001c0001a0004c0004a0012c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0130a0001c0001t0001g0221a0001c0001t0001g0271others(6): Show | 9 | 290 | 0.0310 | 7 | c.385 others(24): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHL1_chr3_191763_414417 | 393232 | C | CAAAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp2 HG03490.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0133a0001c0001t0001g0154a0001c0001t0003g0115others(4): Show | 7 | 290 | 0.0241 | 7 | c.291 others(26): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHMP4A_chr14_24204615_24218488 | 24209812 | A | AGCACTTG | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02615.hp1 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0013a0001c0001t0002g0043a0001c0001t0002g0062others(1): Show | 7 | 418 | 0.0168 | 7 | c.*58 others(14): Show |
CHMP4A | ENSG00000254505.11 | transcript | ENST00000347519.12 | protein_coding | 6/6 | 64 | chr14 | TogoVar | |||||
CHMP6_chr17_80986841_81005133 | 80991416 | T | TAAAAAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00609.hp2 others(116): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0001a0001c0001t0002g0016a0001c0001t0002g0052others(26): Show | 119 | 438 | 0.2717 | 7 | c.-50 others(16): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 424 | chr17 | TogoVar | ||||||
CHMP7_chr8_23238637_23266999 | 23264115 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00741.hp1 HG02004.hp2 HG03490.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0003g0004others(4): Show | 7 | 438 | 0.0160 | 7 | c.*35 others(18): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 2117 | chr8 | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85856289 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0019 | a0001c0001t0007g0075a0001c0001t0007g0079a0001c0001t0007g0080others(1): Show | 4 | 245 | 0.0163 | 7 | c.*83 others(18): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4890 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85913324 | A | AAAGAAAG | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 245 | 0.0041 | 7 | c.116 others(26): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85913332 | A | AAAAAAAG | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0078 | 1 | 245 | 0.0041 | 7 | c.116 others(26): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85973300 | C | CAAAAAAA | intron_variant | MODIFIER | HG01516.hp1 HG02080.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0098a0001c0001t0001g0113a0001c0001t0004g0236 | 3 | 245 | 0.0122 | 7 | c.314 others(24): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 86026102 | C | CTTTTTTT | intron_variant | MODIFIER | HG02155.hp2 HG02165.hp2 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003a0001c0001t0001g0215a0001c0001t0001g0216others(1): Show | 4 | 245 | 0.0163 | 7 | c.116 others(24): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 174801339 | C | CTTGCAAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(105): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0094others(105): Show | 108 | 276 | 0.3913 | 7 | c.120 others(24): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 12/12 | chr2 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29454220 | T | TAGAGAAC | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(53): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(22): Show | a0001c0001t0001g0015a0001c0001t0001g0026a0001c0001t0001g0029others(53): Show | 56 | 232 | 0.2414 | 7 | c.577 others(26): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29456620 | C | CACCACCA | intron_variant | MODIFIER | HG01175.hp2 HG02886.hp1 HG03209.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0006a0003c0007t0013 | a0001c0001t0006g0162a0001c0001t0006g0217a0001c0001t0006g0227others(1): Show | 4 | 232 | 0.0172 | 7 | c.577 others(26): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29473470 | G | GTTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00609.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0003g0014a0001c0001t0003g0016a0001c0001t0003g0044others(15): Show | 18 | 232 | 0.0776 | 7 | c.577 others(24): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29473482 | T | TTTTTGTG | intron_variant | MODIFIER | HG01952.hp2 NA18612.hp1 NA18971.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0005g0159a0001c0001t0006g0144a0001c0001t0007g0116others(2): Show | 5 | 232 | 0.0216 | 7 | c.577 others(24): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29473482 | T | TTTTTTTG | intron_variant | MODIFIER | HG01168.hp2 HG01257.hp1 HG01496.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007 | a0001c0001t0001g0192a0001c0001t0006g0020a0001c0001t0007g0075others(2): Show | 5 | 232 | 0.0216 | 7 | c.577 others(24): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29498758 | C | CTTTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01928.hp1 HG01928.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0012others(11): Show | a0001c0001t0003g0097a0001c0001t0011g0046a0001c0001t0012g0172others(13): Show | 16 | 232 | 0.0690 | 7 | c.740 others(24): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHORDC1_chr11_90195429_90228049 | 90207761 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG01123.hp2 HG02071.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0002g0006a0001c0001t0002g0010a0001c0001t0002g0027others(12): Show | 32 | 412 | 0.0777 | 7 | c.493 others(24): Show |
CHORDC1 | ENSG00000110172.12 | transcript | ENST00000320585.11 | protein_coding | 6/10 | chr11 | TogoVar | ||||||
CHPT1_chr12_101692640_101734074 | 101724754 | A | ATAGATAT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(176): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0024a0001c0001t0001g0025others(118): Show | 179 | 402 | 0.4453 | 7 | c.106 others(24): Show |
CHPT1 | ENSG00000111666.11 | transcript | ENST00000229266.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHRDL1_chrX_110668856_110800817 | 110669080 | T | TATATATA | downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0168 | 1 | 172 | 0.0058 | 7 | c.*71 others(18): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 4775 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689656 | C | CTATATAT | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 172 | 0.0058 | 7 | c.779 others(22): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110771144 | C | CAAAAAAA | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0171 | 1 | 172 | 0.0058 | 7 | c.95- others(22): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 2/11 | chrX | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 136867617 | T | TATATATA | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0040a0001c0001t0048 | a0001c0001t0015g0046a0001c0001t0015g0048a0001c0001t0040g0047others(1): Show | 4 | 320 | 0.0125 | 7 | c.-16 others(18): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 1034 | chr7 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239404721 | T | TATATATA | intron_variant | MODIFIER | HG03927.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0023 | a0001c0001t0005g0053a0001c0001t0023g0007 | 2 | 116 | 0.0172 | 7 | c.-52 others(28): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239610190 | C | CAAAAAAA | intron_variant | MODIFIER | HG00609.hp2 HG01109.hp1 HG01981.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(9): Show | a0001c0001t0001g0005a0001c0001t0001g0052a0001c0001t0002g0048others(12): Show | 15 | 116 | 0.1293 | 7 | c.-31 others(28): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239793803 | A | ATTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG01433.hp2 HG01981.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0001g0013a0001c0001t0001g0109a0001c0001t0009g0038others(3): Show | 6 | 116 | 0.0517 | 7 | c.-14 others(28): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239813916 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG01243.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0109a0001c0001t0002g0069a0001c0001t0003g0039others(15): Show | 18 | 116 | 0.1552 | 7 | c.-14 others(28): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239881282 | C | CAAAAAAA | intron_variant | MODIFIER | HG02451.hp1 HG02922.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0061a0001c0001t0004g0064a0001c0001t0005g0077others(2): Show | 5 | 116 | 0.0431 | 7 | c.-19 others(26): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM5_chr15_33963497_34072458 | 33968099 | T | TAAAAAAA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00735.hp2 others(61): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0080others(60): Show | 64 | 338 | 0.1894 | 7 | c.-14 others(18): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 397 | chr15 | TogoVar | ||||||
CHRNA10_chr11_3660587_3676384 | 3663076 | A | ATCTCATC | downstream_gene_variant | MODIFIER | HG02015.hp1 HG02080.hp2 HG02717.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(4): Show | 14 | 450 | 0.0311 | 7 | c.*30 others(18): Show |
CHRNA10 | ENSG00000129749.3 | transcript | ENST00000250699.2 | protein_coding | 2510 | chr11 | TogoVar | ||||||
CHRNA10_chr11_3660587_3676384 | 3663089 | A | ATCTCATC | downstream_gene_variant | MODIFIER | HG02615.hp2 HG02818.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 3 | 450 | 0.0067 | 7 | c.*30 others(18): Show |
CHRNA10 | ENSG00000129749.3 | transcript | ENST00000250699.2 | protein_coding | 2497 | chr11 | TogoVar | ||||||
CHRNA5_chr15_78560520_78600269 | 78585791 | C | CCTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG01358.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015a0001c0001t0027others(1): Show | a0001c0001t0007g0009a0001c0001t0007g0021a0001c0001t0007g0022others(9): Show | 14 | 382 | 0.0367 | 7 | c.259 others(22): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
CHRNA5_chr15_78560520_78600269 | 78585791 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(211): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0007a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(18): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0012others(183): Show | 214 | 382 | 0.5602 | 7 | c.259 others(22): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA9_chr4_40330333_40360217 | 40340973 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00597.hp1 others(38): Show |
a0002 | a0002c0003a0002c0009 | a0002c0003t0001a0002c0009t0001 | a0002c0003t0001g0004a0002c0003t0001g0007a0002c0003t0001g0019others(14): Show | 41 | 420 | 0.0976 | 7 | c.365 others(24): Show |
CHRNA9 | ENSG00000174343.6 | transcript | ENST00000310169.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CHRNB3_chr8_42692366_42742407 | 42717403 | A | AAAAAAAG | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG01074.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0092a0001c0001t0002g0165a0001c0001t0002g0166others(3): Show | 6 | 282 | 0.0213 | 7 | c.249 others(24): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHRNG_chr2_232534692_232553115 | 232546966 | G | GGCAATAA | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(261): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(9): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(29): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0016others(88): Show | 264 | 434 | 0.6083 | 7 | c.*12 others(18): Show |
CHRNG | ENSG00000196811.13 | transcript | ENST00000651502.1 | protein_coding | 12/12 | 1253 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CHST11_chr12_104451948_104767014 | 104454400 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00597.hp1 HG01167.hp2 HG01884.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017a0001c0001t0056 | a0001c0001t0003g0027a0001c0001t0003g0218a0001c0001t0017g0015others(2): Show | 5 | 240 | 0.0208 | 7 | c.-30 others(18): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2547 | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104596584 | C | CCTTGCTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(212): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0018others(212): Show | 215 | 240 | 0.8958 | 7 | c.119 others(24): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104606163 | T | TGGGGCGG | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG02683.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0030 | a0001c0001t0001g0019a0001c0001t0001g0060a0001c0001t0003g0227others(1): Show | 4 | 240 | 0.0167 | 7 | c.204 others(24): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2411490 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(83): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(75): Show | a0001c0001t0004g0002a0001c0001t0004g0006a0001c0001t0005g0002others(82): Show | 86 | 344 | 0.2500 | 7 | c.-78 others(24): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2432141 | C | CAAAAAAA | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01069.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0061a0001c0001t0062others(4): Show | a0001c0001t0011g0111a0001c0001t0061g0014a0001c0001t0062g0014others(4): Show | 7 | 344 | 0.0204 | 7 | c.-77 others(22): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2434579 | T | TAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG02165.hp2 NA18950.hp2 NA18960.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0049a0001c0001t0151a0003c0003t0030others(3): Show | a0001c0001t0049g0127a0001c0001t0151g0195a0003c0003t0030g0213others(3): Show | 6 | 344 | 0.0174 | 7 | c.*72 others(16): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 2/2 | 733 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
CHST13_chr3_126519155_126548291 | 126520847 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01071.hp1 others(20): Show |
a0001a0003a0004 | a0001c0001a0003c0007a0004c0003 | a0001c0001t0001a0003c0007t0001a0004c0003t0002 | a0001c0001t0001g0004a0001c0001t0001g0013a0001c0001t0001g0018others(9): Show | 23 | 364 | 0.0632 | 7 | c.-34 others(18): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 3307 | chr3 | TogoVar | ||||||
CHST13_chr3_126519155_126548291 | 126532442 | T | TGTATGTG | intron_variant | MODIFIER | HG00735.hp1 HG01358.hp1 HG01358.hp2 others(18): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0017a0003c0005t0001g0019a0003c0005t0001g0032others(10): Show | 21 | 364 | 0.0577 | 7 | c.98- others(22): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHST13_chr3_126519155_126548291 | 126539777 | A | ACACACAC | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01071.hp1 others(46): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0005a0006c0008t0001 | a0001c0001t0001g0004a0001c0001t0001g0013a0001c0001t0001g0018others(14): Show | 49 | 364 | 0.1346 | 7 | c.181 others(24): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHST6_chr16_75467052_75500441 | 75499307 | G | GAATGGGA | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02647.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0061 | a0001c0001t0005g0036a0001c0001t0005g0067a0001c0001t0010g0029others(1): Show | 4 | 371 | 0.0108 | 7 | c.-44 others(18): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 3867 | chr16 | TogoVar | ||||||
CHST7_chrX_46568765_46603496 | 46578269 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG02056.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0094a0001c0001t0001g0166a0001c0001t0001g0180others(3): Show | 6 | 311 | 0.0193 | 7 | c.*31 others(24): Show |
CHST7 | ENSG00000147119.4 | transcript | ENST00000276055.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHST7_chrX_46568765_46603496 | 46584535 | C | CAAAAAAA | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 311 | 0.0032 | 7 | c.*31 others(24): Show |
CHST7 | ENSG00000147119.4 | transcript | ENST00000276055.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33710872 | G | GGTTTTTT | intron_variant | MODIFIER | HG02818.hp1 HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0023a0001c0001t0001g0026a0001c0002t0001g0207 | 3 | 254 | 0.0118 | 7 | c.130 others(26): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | chr19 | TogoVar |