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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHRNA5_chr15_78560520_78600269 | 78570424 | A | ATTTTT | intron_variant | MODIFIER | HG00408.hp1 HG01358.hp2 HG02071.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0008others(3): Show | a0001c0001t0005g0034a0001c0001t0007g0064a0001c0001t0007g0068others(9): Show | 13 | 382 | 0.0340 | 5 | c.106 others(22): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA5_chr15_78560520_78600269 | 78580279 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00733.hp1 others(89): Show |
a0001a0005a0008 | a0001c0001a0001c0007a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(8): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0012others(75): Show | 92 | 382 | 0.2408 | 5 | c.107 others(20): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA6_chr8_42747620_42773786 | 42749292 | A | ATAATT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(145): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0002g0003a0001c0001t0002g0007a0001c0001t0002g0008others(71): Show | 148 | 350 | 0.4229 | 5 | c.*38 others(16): Show |
CHRNA6 | ENSG00000147434.9 | transcript | ENST00000276410.7 | protein_coding | 3327 | chr8 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32120417 | G | GTTTTC | intron_variant | MODIFIER | HG02486.hp2 HG02735.hp2 HG03195.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0013 | a0001c0001t0001a0001c0001t0042a0001c0004t0024others(1): Show | a0001c0001t0001g0082a0001c0001t0042g0280a0001c0004t0024g0189others(1): Show | 4 | 307 | 0.0130 | 5 | c.350 others(22): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA7_chr15_32025515_32178018 | 32138731 | A | ATGTTT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00558.hp1 others(108): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(37): Show | a0001c0001t0001g0029a0001c0001t0001g0051a0001c0001t0001g0082others(107): Show | 111 | 307 | 0.3616 | 5 | c.351 others(24): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA9_chr4_40330333_40360217 | 40339662 | C | CAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02109.hp1 others(8): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0004a0003c0011others(4): Show | a0001c0002t0001a0001c0004t0002a0003c0011t0006others(4): Show | a0001c0002t0001g0092a0001c0004t0002g0084a0001c0004t0002g0085others(6): Show | 11 | 420 | 0.0262 | 5 | c.365 others(22): Show |
CHRNA9 | ENSG00000174343.6 | transcript | ENST00000310169.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CHRNB1_chr17_7440061_7462710 | 7442500 | A | AGGTAC | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00733.hp1 others(81): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0028a0001c0001t0001g0029others(69): Show | 84 | 368 | 0.2283 | 5 | c.-26 others(16): Show |
CHRNB1 | ENSG00000170175.11 | transcript | ENST00000306071.7 | protein_coding | 2560 | chr17 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42714483 | T | TCAAAA | intron_variant | MODIFIER | HG02451.hp2 HG02895.hp1 HG02897.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0124a0002c0002t0004g0125a0002c0002t0004g0126others(1): Show | 4 | 282 | 0.0142 | 5 | c.249 others(22): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHRNB3_chr8_42692366_42742407 | 42721722 | C | CAAACA | intron_variant | MODIFIER | HG01074.hp2 HG01891.hp2 HG02004.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0004 | a0001c0001t0001g0034a0001c0001t0001g0072a0001c0001t0001g0073others(8): Show | 11 | 282 | 0.0390 | 5 | c.250 others(22): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHRNB4_chr15_78619111_78646210 | 78632153 | C | CTTCCT | intron_variant | MODIFIER | HG00423.hp2 HG02083.hp2 HG02723.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0139a0001c0006t0002g0125a0002c0002t0001g0172others(8): Show | 11 | 416 | 0.0264 | 5 | c.205 others(20): Show |
CHRNB4 | ENSG00000117971.12 | transcript | ENST00000261751.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
CHRNE_chr17_4892771_4908098 | 4907590 | A | AAAAAT | upstream_gene_variant | MODIFIER | HG00609.hp2 HG01069.hp1 HG01074.hp2 others(27): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0010others(1): Show | a0001c0001t0016a0001c0001t0034a0001c0001t0062others(6): Show | a0001c0001t0016g0022a0001c0001t0034g0040a0001c0001t0062g0110others(9): Show | 30 | 446 | 0.0673 | 5 | c.-45 others(16): Show |
CHRNE | ENSG00000108556.10 | transcript | ENST00000649488.2 | protein_coding | 4493 | chr17 | TogoVar | ||||||
CHRNG_chr2_232534692_232553115 | 232551228 | T | TTGCTG | downstream_gene_variant | MODIFIER | HG00673.hp1 HG01123.hp1 HG01891.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0007a0001c0002t0003others(1): Show | a0001c0001t0001g0002a0001c0001t0007g0075a0001c0002t0003g0006others(10): Show | 23 | 434 | 0.0530 | 5 | c.*55 others(16): Show |
CHRNG | ENSG00000196811.13 | transcript | ENST00000651502.1 | protein_coding | 3114 | chr2 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104513123 | T | TGGTGG | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0007a0001c0001t0001g0018a0001c0001t0001g0019others(34): Show | 37 | 240 | 0.1542 | 5 | c.118 others(24): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104544768 | G | GCCCCC | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG01243.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0118a0001c0001t0001g0234a0001c0001t0003g0073others(11): Show | 14 | 240 | 0.0583 | 5 | c.119 others(24): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | chr12 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104559756 | T | TAAATA | intron_variant | MODIFIER | HG01167.hp2 HG02818.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0066 | a0001c0001t0002g0096a0001c0001t0003g0218a0001c0001t0066g0053 | 3 | 240 | 0.0125 | 5 | 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 | 104584678 | T | TTTAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(213): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0018others(213): Show | 216 | 240 | 0.9000 | 5 | 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 | 104684534 | A | ATGGTT | intron_variant | MODIFIER | HG01361.hp2 HG02074.hp1 NA18964.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016a0001c0001t0034others(1): Show | a0001c0001t0005g0165a0001c0001t0016g0240a0001c0001t0034g0170others(1): Show | 4 | 240 | 0.0167 | 5 | c.205 others(24): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104748594 | C | CGGCTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0012others(16): Show | a0001c0001t0004g0011a0001c0001t0004g0029a0001c0001t0004g0063others(32): Show | 35 | 240 | 0.1458 | 5 | c.205 others(22): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2399139 | A | ATTTAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(326): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0006a0001c0009others(11): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(288): Show | a0001c0001t0004g0002a0001c0001t0004g0006a0001c0001t0005g0002others(320): Show | 329 | 344 | 0.9564 | 5 | c.-46 others(16): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4471 | chr7 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2422850 | T | TAAGAA | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02896.hp1 others(5): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0221a0001c0001t0287a0001c0001t0289others(5): Show | a0001c0001t0221g0108a0001c0001t0287g0105a0001c0001t0289g0107others(5): Show | 8 | 344 | 0.0233 | 5 | c.-77 others(22): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | chr7 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2432141 | C | CAAAAA | intron_variant | MODIFIER | HG02135.hp1 HG03453.hp2 NA18999.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0051a0001c0001t0098a0001c0001t0184others(3): Show | a0001c0001t0051g0146a0001c0001t0098g0174a0001c0001t0184g0161others(3): Show | 6 | 344 | 0.0174 | 5 | c.-77 others(20): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2434579 | T | TAAAAA | 3_prime_UTR_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG00733.hp1 others(32): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0011 | a0001c0001t0008a0001c0001t0061a0001c0001t0062others(30): Show | a0001c0001t0008g0180a0001c0001t0008g0266a0001c0001t0061g0014others(31): Show | 35 | 344 | 0.1017 | 5 | c.*72 others(14): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 2/2 | 733 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
CHST13_chr3_126519155_126548291 | 126520847 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01433.hp1 HG01516.hp2 HG02083.hp2 others(11): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0001a0002c0002t0001a0004c0003t0002 | a0001c0001t0001g0085a0002c0002t0001g0002a0002c0002t0001g0007others(7): Show | 14 | 364 | 0.0385 | 5 | c.-34 others(16): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 3307 | chr3 | TogoVar | ||||||
CHST15_chr10_124002668_124098598 | 124045119 | A | AAAAAC | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00621.hp1 others(94): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0048others(90): Show | 97 | 392 | 0.2475 | 5 | c.547 others(20): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 2/7 | chr10 | TogoVar | ||||||
CHST15_chr10_124002668_124098598 | 124045120 | A | AAAAAC | intron_variant | MODIFIER | HG02258.hp2 HG03516.hp2 HG03927.hp2 others(6): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0005a0001c0001t0021others(2): Show | a0001c0001t0001g0221a0001c0001t0001g0239a0001c0001t0001g0298others(6): Show | 9 | 392 | 0.0230 | 5 | c.547 others(20): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 2/7 | chr10 | TogoVar | ||||||
CHST15_chr10_124002668_124098598 | 124045121 | A | AAAAAC | intron_variant | MODIFIER | HG00558.hp2 HG01361.hp1 HG02040.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0079a0001c0001t0001g0296a0001c0001t0001g0300others(5): Show | 8 | 392 | 0.0204 | 5 | c.547 others(20): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 2/7 | chr10 | TogoVar | ||||||
CHST3_chr10_71959395_72018558 | 71987714 | C | CAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01106.hp2 others(48): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0062a0001c0001t0003g0215a0001c0001t0003g0220others(40): Show | 51 | 372 | 0.1371 | 5 | c.-10 others(26): Show |
CHST3 | ENSG00000122863.6 | transcript | ENST00000373115.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHST3_chr10_71959395_72018558 | 71996913 | T | TTTTTG | intron_variant | MODIFIER | HG02630.hp1 HG02723.hp1 HG02895.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0008 | a0001c0001t0025a0001c0010t0014a0002c0008t0027 | a0001c0001t0025g0279a0001c0001t0025g0318a0001c0010t0014g0278others(2): Show | 5 | 372 | 0.0134 | 5 | c.-10 others(24): Show |
CHST3 | ENSG00000122863.6 | transcript | ENST00000373115.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHST3_chr10_71959395_72018558 | 72000524 | C | CCAGAG | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00558.hp2 others(75): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0016a0001c0001t0001g0056a0001c0001t0001g0089others(68): Show | 78 | 372 | 0.2097 | 5 | c.-10 others(24): Show |
CHST3 | ENSG00000122863.6 | transcript | ENST00000373115.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHST7_chrX_46568765_46603496 | 46578269 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(104): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(67): Show | 107 | 311 | 0.3441 | 5 | c.*31 others(22): Show |
CHST7 | ENSG00000147119.4 | transcript | ENST00000276055.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHST7_chrX_46568765_46603496 | 46584535 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(195): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(122): Show | 198 | 311 | 0.6367 | 5 | c.*31 others(22): Show |
CHST7 | ENSG00000147119.4 | transcript | ENST00000276055.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHST7_chrX_46568765_46603496 | 46598694 | T | TATCTA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01106.hp1 HG01109.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0119 | 6 | 311 | 0.0193 | 5 | c.*96 others(14): Show |
CHST7 | ENSG00000147119.4 | transcript | ENST00000276055.4 | protein_coding | 199 | chrX | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33648902 | C | CTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01884.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0026a0001c0001t0001g0031a0001c0001t0001g0039others(15): Show | 18 | 254 | 0.0709 | 5 | c.-16 others(26): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST9_chr18_26901481_27190308 | 26972534 | C | CAAGGA | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(84): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0008a0001c0001t0001g0037a0001c0001t0001g0038others(84): Show | 87 | 262 | 0.3321 | 5 | c.203 others(24): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27019689 | C | CAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG02109.hp2 HG02451.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0006a0001c0001t0032others(2): Show | a0001c0001t0004g0200a0001c0001t0006g0177a0001c0001t0006g0208others(3): Show | 6 | 262 | 0.0229 | 5 | c.202 others(22): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27080936 | G | GAAGTA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(145): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0008a0001c0001t0001g0037a0001c0001t0001g0038others(145): Show | 148 | 262 | 0.5649 | 5 | c.122 others(24): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHST9_chr18_26901481_27190308 | 27084653 | T | TTCAGC | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0003g0057a0001c0001t0003g0076a0001c0001t0003g0244others(11): Show | 14 | 262 | 0.0534 | 5 | c.122 others(24): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101186147 | C | CAAAAA | intron_variant | MODIFIER | HG02071.hp1 HG02132.hp2 HG02165.hp1 others(8): Show |
a0001a0003 | a0001c0008a0003c0006 | a0001c0008t0010a0001c0008t0039a0001c0008t0040others(2): Show | a0001c0008t0010g0034a0001c0008t0010g0035a0001c0008t0010g0037others(8): Show | 11 | 422 | 0.0261 | 5 | c.817 others(22): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101249510 | A | ATTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02970.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0018a0001c0003t0026a0001c0005t0001others(2): Show | a0001c0001t0018g0058a0001c0001t0018g0059a0001c0003t0026g0055others(3): Show | 6 | 422 | 0.0142 | 5 | c.320 others(22): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
CHSY3_chr5_129899465_130191634 | 130035886 | G | GTTTTT | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02622.hp2 others(4): Show |
a0002a0004a0006 | a0002c0003a0002c0007a0004c0009others(1): Show | a0002c0003t0005a0002c0007t0009a0004c0009t0004others(1): Show | a0002c0003t0005g0126a0002c0003t0005g0127a0002c0003t0005g0128others(4): Show | 7 | 276 | 0.0254 | 5 | c.108 others(28): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130162057 | A | AAAAAG | intron_variant | MODIFIER | HG00642.hp1 HG02280.hp2 HG02300.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0002t0001a0002c0003t0002others(3): Show | a0001c0001t0002g0207a0001c0001t0002g0209a0001c0001t0002g0214others(7): Show | 10 | 276 | 0.0362 | 5 | c.108 others(26): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130178253 | A | ATATAT | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00621.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0231a0001c0001t0002g0131a0001c0001t0002g0181others(5): Show | 8 | 276 | 0.0290 | 5 | c.108 others(24): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130178254 | T | TATATA | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp2 HG02886.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0002a0001c0002t0001a0002c0005t0001others(2): Show | a0001c0001t0002g0207a0001c0002t0001g0087a0002c0005t0001g0010others(3): Show | 6 | 276 | 0.0217 | 5 | c.108 others(24): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
CHTF18_chr16_783620_803074 | 793084 | C | CGGGTG | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00609.hp1 others(74): Show |
a0002a0015a0017others(6): Show | a0002c0002a0002c0040a0002c0075others(10): Show | a0002c0002t0001a0002c0040t0001a0002c0075t0001others(10): Show | a0002c0002t0001g0001a0002c0002t0001g0005a0002c0002t0001g0014others(29): Show | 77 | 428 | 0.1799 | 5 | c.167 others(20): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHURC1_chr14_64909455_64940368 | 64925696 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp2 others(54): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0026a0001c0001t0001g0046a0001c0001t0001g0048others(40): Show | 57 | 392 | 0.1454 | 5 | c.176 others(20): Show |
CHURC1 | ENSG00000258289.10 | transcript | ENST00000549115.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CHURC1_chr14_64909455_64940368 | 64927718 | C | CCCCCA | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp1 others(113): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0002g0118a0001c0001t0002g0119a0001c0001t0003g0009others(73): Show | 116 | 392 | 0.2959 | 5 | c.246 others(22): Show |
CHURC1 | ENSG00000258289.10 | transcript | ENST00000549115.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CIAO2A_chr15_64067565_64098838 | 64077297 | C | CAACAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(141): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(84): Show | 144 | 338 | 0.4260 | 5 | c.340 others(22): Show |
CIAO2A | ENSG00000166797.11 | transcript | ENST00000300030.8 | protein_coding | 3/4 | chr15 | TogoVar | ||||||
CIAO2A_chr15_64067565_64098838 | 64089452 | T | TTGCGG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(191): Show | 325 | 338 | 0.9615 | 5 | c.125 others(20): Show |
CIAO2A | ENSG00000166797.11 | transcript | ENST00000300030.8 | protein_coding | 1/4 | chr15 | TogoVar | ||||||
CIART_chr1_150277554_150292093 | 150286104 | C | CTTCTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(299): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(33): Show | 302 | 416 | 0.7260 | 5 | c.634 others(20): Show |
CIART | ENSG00000159208.16 | transcript | ENST00000290363.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CIART_chr1_150277554_150292093 | 150289968 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01255.hp1 HG01257.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0002a0001c0001t0003g0003a0001c0001t0003g0014others(4): Show | 16 | 416 | 0.0385 | 5 | c.*30 others(16): Show |
CIART | ENSG00000159208.16 | transcript | ENST00000290363.6 | protein_coding | 2876 | chr1 | TogoVar |