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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CYB5B_chr16_69419619_69471264 | 69420935 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG01884.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0023 | a0001c0001t0003g0007 a0001c0001t0003g0022 a0001c0001t0003g0273 others(20): Show |
29 | 406 | 0.0714 | 5 | c.-37 others(16): Show |
CYB5B | ENSG00000103018.18 | transcript | ENST00000307892.13 | protein_coding | 3683 | chr16 | TogoVar | |||||||
CYB5R3_chr22_42612840_42654392 | 42616310 | A | AAAAAG | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00642.hp1 HG01070.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0149 a0001c0001t0001g0162 a0001c0001t0002g0002 others(17): Show |
21 | 360 | 0.0583 | 5 | c.*34 others(16): Show |
CYB5R3 | ENSG00000100243.22 | transcript | ENST00000352397.10 | protein_coding | 1529 | chr22 | TogoVar | |||||||
CYB5R4_chr6_83854689_83972423 | 83931804 | T | TATATA | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02622.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0008a0003c0003t0004 | a0001c0001t0008g0138 a0003c0003t0004g0092 a0003c0003t0004g0094 |
3 | 228 | 0.0132 | 5 | c.815 others(22): Show |
CYB5R4 | ENSG00000065615.14 | transcript | ENST00000369681.10 | protein_coding | 10/15 | chr6 | TogoVar | |||||||
CYBB_chrX_37775059_37818461 | 37801629 | T | TGTGTG | intron_variant | MODIFIER | NA19087.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0063 | 1 | 246 | 0.0041 | 5 | c.897 others(20): Show |
CYBB | ENSG00000165168.9 | transcript | ENST00000378588.5 | protein_coding | 8/12 | chrX | TogoVar | |||||||
CYBB_chrX_37775059_37818461 | 37816787 | T | TAGCAC | downstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 246 | 0.0041 | 5 | c.*58 others(16): Show |
CYBB | ENSG00000165168.9 | transcript | ENST00000378588.5 | protein_coding | 3327 | chrX | TogoVar | |||||||
CYBRD1_chr2_171517474_171563129 | 171540772 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(76): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0025 a0001c0001t0002g0066 a0001c0001t0002g0067 others(62): Show |
79 | 394 | 0.2005 | 5 | c.194 others(20): Show |
CYBRD1 | ENSG00000071967.12 | transcript | ENST00000321348.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CYCS_chr7_25113656_25130260 | 25114862 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00673.hp2 HG01261.hp1 HG01515.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0004g0003 a0001c0001t0005g0005 a0001c0001t0006g0007 others(2): Show |
11 | 436 | 0.0252 | 5 | c.*88 others(16): Show |
CYCS | ENSG00000172115.9 | transcript | ENST00000305786.7 | protein_coding | 3793 | chr7 | TogoVar | |||||||
CYFIP1_chr15_22862052_22985368 | 22868570 | C | CACATT | 3_prime_UTR_variant | MODIFIER | HG01256.hp2 HG02280.hp2 HG02622.hp2 others(1): Show |
a0001a0002 | a0001c0020a0001c0047a0002c0010 | a0001c0020t0022a0001c0047t0021a0002c0010t0021others(1): Show | a0001c0020t0022g0086 a0001c0047t0021g0069 a0002c0010t0021g0159 others(1): Show |
4 | 342 | 0.0117 | 5 | c.*14 others(16): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 31/31 | 1457 | chr15 | TogoVar | ||||||
CYFIP1_chr15_22862052_22985368 | 22920020 | T | TCAAAA | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02451.hp2 others(3): Show |
a0001a0002a0003 | a0001c0002a0002c0004a0002c0046others(1): Show | a0001c0002t0007a0001c0002t0008a0002c0004t0005others(2): Show | a0001c0002t0007g0021 a0001c0002t0008g0311 a0002c0004t0005g0265 others(3): Show |
6 | 342 | 0.0175 | 5 | c.136 others(24): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 13/30 | chr15 | TogoVar | |||||||
CYFIP1_chr15_22862052_22985368 | 22923942 | C | CAAAAA | intron_variant | MODIFIER | HG01255.hp2 HG01358.hp1 HG01891.hp1 others(5): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0088 a0001c0001t0002g0274 a0001c0001t0003g0056 others(5): Show |
8 | 342 | 0.0234 | 5 | c.135 others(24): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 13/30 | chr15 | TogoVar | |||||||
CYFIP1_chr15_22862052_22985368 | 22927483 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00639.hp1 others(19): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0032 a0001c0001t0001g0088 a0001c0001t0001g0090 others(19): Show |
22 | 342 | 0.0643 | 5 | c.123 others(22): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 12/30 | chr15 | TogoVar | |||||||
CYFIP1_chr15_22862052_22985368 | 22930389 | C | CAAAAA | intron_variant | MODIFIER | HG02040.hp2 NA18747.hp2 NA18941.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0251 a0001c0001t0002g0037 a0001c0001t0003g0056 others(10): Show |
13 | 342 | 0.0380 | 5 | c.111 others(24): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 11/30 | chr15 | TogoVar | |||||||
CYFIP1_chr15_22862052_22985368 | 22963494 | A | AATAAC | intron_variant | MODIFIER | HG01358.hp1 HG01516.hp2 HG01517.hp2 others(22): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0139 a0001c0001t0001g0237 a0001c0001t0002g0155 others(22): Show |
25 | 342 | 0.0731 | 5 | c.-6- others(22): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 1/30 | chr15 | TogoVar | |||||||
CYFIP1_chr15_22862052_22985368 | 22964314 | A | ACACAC | intron_variant | MODIFIER | NA18995.hp2 NA18998.hp1 NA19064.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0144 a0001c0001t0002g0132 a0001c0002t0003g0284 |
3 | 342 | 0.0088 | 5 | c.-7+ others(22): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 1/30 | chr15 | TogoVar | |||||||
CYFIP1_chr15_22862052_22985368 | 22964408 | C | CACACA | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG02615.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0005others(3): Show | a0001c0001t0004g0212 a0001c0002t0002g0114 a0001c0002t0005g0108 others(3): Show |
6 | 342 | 0.0175 | 5 | c.-7+ others(22): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 1/30 | chr15 | TogoVar | |||||||
CYFIP1_chr15_22862052_22985368 | 22978352 | C | CAAAAA | intron_variant | MODIFIER | HG00621.hp1 NA18747.hp2 NA18944.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0032 a0001c0001t0004g0035 a0001c0002t0001g0034 others(5): Show |
8 | 342 | 0.0234 | 5 | c.-7+ others(20): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 1/30 | chr15 | TogoVar | |||||||
CYFIP2_chr5_157261123_157400594 | 157369878 | A | AGTTTT | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02257.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(4): Show | a0001c0001t0002g0002 a0001c0001t0002g0067 a0001c0001t0006g0092 others(20): Show |
24 | 326 | 0.0736 | 5 | c.303 others(24): Show |
CYFIP2 | ENSG00000055163.21 | transcript | ENST00000620254.5 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CYFIP2_chr5_157261123_157400594 | 157372347 | C | CAGTAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(141): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(25): Show | a0001c0001t0002g0007 a0001c0001t0002g0047 a0001c0001t0002g0164 others(138): Show |
144 | 326 | 0.4417 | 5 | c.304 others(26): Show |
CYFIP2 | ENSG00000055163.21 | transcript | ENST00000620254.5 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CYFIP2_chr5_157261123_157400594 | 157379668 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01192.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0002g0055 a0001c0001t0004g0202 a0001c0001t0005g0308 others(12): Show |
15 | 326 | 0.0460 | 5 | c.304 others(24): Show |
CYFIP2 | ENSG00000055163.21 | transcript | ENST00000620254.5 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878340 | T | TATATA | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 208 | 0.0048 | 5 | c.192 others(24): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CYLC2_chr9_102990333_103023488 | 103013346 | A | ATATAT | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0014others(1): Show | a0001c0001t0005g0238 a0001c0001t0011g0233 a0001c0001t0011g0234 others(2): Show |
5 | 448 | 0.0112 | 5 | c.*81 others(24): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 6/7 | chr9 | TogoVar | |||||||
CYLC2_chr9_102990333_103023488 | 103014753 | C | CATAAT | intron_variant | MODIFIER | HG02132.hp2 HG02698.hp1 HG03710.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0051 a0001c0001t0004g0206 a0001c0001t0005g0215 others(3): Show |
6 | 448 | 0.0134 | 5 | c.*81 others(24): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CYP11A1_chr15_74332762_74372646 | 74368111 | C | CTATTT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG00738.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0171 others(3): Show |
10 | 380 | 0.0263 | 5 | c.-52 others(14): Show |
CYP11A1 | ENSG00000140459.18 | transcript | ENST00000268053.11 | protein_coding | 466 | chr15 | TogoVar | |||||||
CYP17A1_chr10_102825531_102842413 | 102826130 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG04115.hp2 HG04228.hp1 NA18943.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001 | a0001c0002t0002g0002 a0001c0002t0002g0029 a0001c0003t0001g0010 |
6 | 442 | 0.0136 | 5 | c.*45 others(16): Show |
CYP17A1 | ENSG00000148795.7 | transcript | ENST00000369887.4 | protein_coding | 4400 | chr10 | TogoVar | |||||||
CYP19A1_chr15_51203057_51343596 | 51270007 | C | CTGAAA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00558.hp1 others(74): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0108 a0001c0001t0001g0186 a0001c0001t0002g0024 others(74): Show |
77 | 306 | 0.2516 | 5 | c.-38 others(24): Show |
CYP19A1 | ENSG00000137869.16 | transcript | ENST00000396402.6 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
CYP19A1_chr15_51203057_51343596 | 51297869 | C | CACACA | intron_variant | MODIFIER | HG02083.hp1 HG02615.hp2 NA19012.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0002t0023a0001c0005t0005 | a0001c0002t0001g0187 a0001c0002t0023g0115 a0001c0005t0005g0031 |
3 | 306 | 0.0098 | 5 | c.-39 others(24): Show |
CYP19A1 | ENSG00000137869.16 | transcript | ENST00000396402.6 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
CYP19A1_chr15_51203057_51343596 | 51304890 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG02135.hp2 HG03516.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(1): Show | a0001c0001t0001g0262 a0001c0002t0001g0138 a0001c0002t0006g0143 others(3): Show |
6 | 306 | 0.0196 | 5 | c.-39 others(24): Show |
CYP19A1 | ENSG00000137869.16 | transcript | ENST00000396402.6 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
CYP19A1_chr15_51203057_51343596 | 51306962 | G | GTACCA | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01243.hp1 others(46): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0087 others(46): Show |
49 | 306 | 0.1601 | 5 | c.-39 others(24): Show |
CYP19A1 | ENSG00000137869.16 | transcript | ENST00000396402.6 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
CYP1B1_chr2_38062509_38081151 | 38078098 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01361.hp2 HG01891.hp1 others(4): Show |
a0004 | a0004c0006 | a0004c0006t0006a0004c0006t0018 | a0004c0006t0006g0009 a0004c0006t0018g0022 |
7 | 368 | 0.0190 | 5 | c.-23 others(16): Show |
CYP1B1 | ENSG00000138061.12 | transcript | ENST00000610745.5 | protein_coding | 1948 | chr2 | TogoVar | |||||||
CYP20A1_chr2_203234018_203311026 | 203238246 | C | CTTTTG | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01943.hp2 HG01975.hp1 others(15): Show |
a0003a0007 | a0003c0003a0007c0005 | a0003c0003t0009a0003c0003t0022a0003c0003t0052others(7): Show | a0003c0003t0009g0006 a0003c0003t0009g0018 a0003c0003t0009g0022 others(15): Show |
18 | 334 | 0.0539 | 5 | c.-81 others(14): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 771 | chr2 | TogoVar | |||||||
CYP20A1_chr2_203234018_203311026 | 203271080 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp1 NA18983.hp1 NA19091.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0102 | a0002c0002t0002g0236 a0002c0002t0002g0292 a0002c0002t0102g0252 |
3 | 334 | 0.0090 | 5 | c.601 others(22): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CYP20A1_chr2_203234018_203311026 | 203277354 | A | AAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(288): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(147): Show | a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0046 others(286): Show |
291 | 334 | 0.8713 | 5 | c.680 others(22): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CYP20A1_chr2_203234018_203311026 | 203294941 | A | ATTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(54): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(31): Show | a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0067 others(54): Show |
57 | 334 | 0.1707 | 5 | c.114 others(24): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CYP24A1_chr20_54148446_54178986 | 54159397 | G | GTTTTT | intron_variant | MODIFIER | HG02027.hp1 HG02056.hp1 HG02738.hp2 others(5): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0001 | a0001c0003t0001g0079 a0001c0003t0001g0087 a0001c0003t0001g0127 others(5): Show |
8 | 456 | 0.0175 | 5 | c.991 others(20): Show |
CYP24A1 | ENSG00000019186.10 | transcript | ENST00000216862.8 | protein_coding | 7/11 | chr20 | TogoVar | |||||||
CYP27A1_chr2_218777147_218820293 | 218801979 | C | CTTTTT | intron_variant | MODIFIER | HG02970.hp2 HG03098.hp1 HG03654.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0002t0001a0004c0007t0001 | a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0147 others(3): Show |
6 | 298 | 0.0201 | 5 | c.256 others(22): Show |
CYP27A1 | ENSG00000135929.9 | transcript | ENST00000258415.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CYP27A1_chr2_218777147_218820293 | 218801995 | T | TTTTTA | intron_variant | MODIFIER | HG02280.hp2 HG02723.hp1 HG02809.hp1 others(3): Show |
a0001a0007 | a0001c0001a0007c0016 | a0001c0001t0001a0007c0016t0001 | a0001c0001t0001g0021 a0001c0001t0001g0084 a0001c0001t0001g0141 others(2): Show |
6 | 298 | 0.0201 | 5 | c.256 others(22): Show |
CYP27A1 | ENSG00000135929.9 | transcript | ENST00000258415.9 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
CYP27C1_chr2_127178832_127225299 | 127186369 | C | CATTTT | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(123): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0024others(19): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(118): Show |
126 | 352 | 0.3580 | 5 | c.*89 others(14): Show |
CYP27C1 | ENSG00000186684.14 | transcript | ENST00000664447.2 | protein_coding | 9/9 | 901 | chr2 | TogoVar | ||||||
CYP27C1_chr2_127178832_127225299 | 127204448 | G | GAAAGA | intron_variant | MODIFIER | HG00423.hp2 HG03490.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0112 a0001c0001t0002g0111 a0001c0001t0002g0137 |
3 | 352 | 0.0085 | 5 | c.474 others(20): Show |
CYP27C1 | ENSG00000186684.14 | transcript | ENST00000664447.2 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
CYP27C1_chr2_127178832_127225299 | 127204625 | G | GAAAGA | intron_variant | MODIFIER | HG00609.hp2 HG00735.hp2 HG01069.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0040others(1): Show | a0001c0001t0001g0202 a0001c0001t0001g0278 a0001c0001t0001g0283 others(5): Show |
8 | 352 | 0.0227 | 5 | c.474 others(22): Show |
CYP27C1 | ENSG00000186684.14 | transcript | ENST00000664447.2 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
CYP27C1_chr2_127178832_127225299 | 127224704 | A | AATAAT | upstream_gene_variant | MODIFIER | HG02717.hp2 HG02922.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0038a0001c0002t0009 | a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0038g0340 others(1): Show |
4 | 352 | 0.0114 | 5 | c.-44 others(16): Show |
CYP27C1 | ENSG00000186684.14 | transcript | ENST00000664447.2 | protein_coding | 4406 | chr2 | TogoVar | |||||||
CYP2A7_chr19_40870439_40887231 | 40885953 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00639.hp2 others(26): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0031a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0031t0004others(7): Show | a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0034 others(18): Show |
29 | 398 | 0.0729 | 5 | c.-37 others(16): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 3723 | chr19 | TogoVar | |||||||
CYP2B6_chr19_40986282_41023398 | 41016431 | A | AGAGAG | intron_variant | MODIFIER | HG00639.hp1 HG02886.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001a0001c0019a0001c0024 | a0001c0001t0005a0001c0001t0016a0001c0001t0031others(2): Show | a0001c0001t0005g0050 a0001c0001t0005g0055 a0001c0001t0016g0136 others(3): Show |
6 | 440 | 0.0136 | 5 | c.129 others(22): Show |
CYP2B6 | ENSG00000197408.10 | transcript | ENST00000324071.10 | protein_coding | 8/8 | chr19 | TogoVar | |||||||
CYP2D6_chr22_42121499_42135810 | 42132024 | A | ATCCTT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(64): Show |
a0002a0005a0009others(8): Show | a0002c0002a0002c0039a0005c0005others(9): Show | a0002c0002t0001a0002c0039t0001a0005c0005t0001others(9): Show | a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0026 others(15): Show |
67 | 417 | 0.1607 | 5 | c.-12 others(16): Show |
CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 1215 | chr22 | TogoVar | |||||||
CYP2E1_chr10_133522363_133544123 | 133542671 | C | CTTTCT | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG01175.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0007 others(2): Show |
8 | 414 | 0.0193 | 5 | c.*37 others(16): Show |
CYP2E1 | ENSG00000130649.10 | transcript | ENST00000252945.8 | protein_coding | 3549 | chr10 | TogoVar | |||||||
CYP2F1_chr19_41109432_41133381 | 41133218 | G | GAAAGA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(80): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0003others(14): Show | a0001c0001t0004a0001c0001t0015a0002c0002t0002others(20): Show | a0001c0001t0004g0163 a0001c0001t0004g0225 a0001c0001t0004g0245 others(75): Show |
83 | 374 | 0.2219 | 5 | c.*51 others(16): Show |
CYP2F1 | ENSG00000197446.9 | transcript | ENST00000331105.7 | protein_coding | 4838 | chr19 | TogoVar | |||||||
CYP2R1_chr11_14872440_14897231 | 14890537 | C | CTTTTT | intron_variant | MODIFIER | HG02970.hp2 NA18522.hp1 NA18985.hp2 others(4): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0023 a0001c0001t0001g0058 a0001c0001t0001g0059 others(2): Show |
7 | 404 | 0.0173 | 5 | c.225 others(22): Show |
CYP2R1 | ENSG00000186104.11 | transcript | ENST00000334636.10 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
CYP2S1_chr19_41188219_41212539 | 41197870 | C | CGAGGA | frameshift_variant | HIGH | NA19072.hp2 | a0021 | a0021c0016 | a0021c0016t0001 | a0021c0016t0001g0062 | 1 | 422 | 0.0024 | 5 | c.437 others(12): Show |
p.Leu others(5): Show |
CYP2S1 | ENSG00000167600.14 | transcript | ENST00000310054.9 | protein_coding | 3/9 | 488/2612 | 442/1515 | 148/504 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
CYP39A1_chr6_46544580_46657818 | 46616163 | T | TCTTTC | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp1 HG01346.hp2 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(5): Show | a0001c0001t0001g0096 a0001c0001t0001g0116 a0001c0001t0001g0235 others(10): Show |
13 | 310 | 0.0419 | 5 | c.931 others(22): Show |
CYP39A1 | ENSG00000146233.8 | transcript | ENST00000275016.3 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
CYP39A1_chr6_46544580_46657818 | 46630130 | C | CAAAAA | intron_variant | MODIFIER | HG01069.hp2 HG01255.hp2 HG02145.hp2 others(10): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0137 others(10): Show |
13 | 310 | 0.0419 | 5 | c.840 others(20): Show |
CYP39A1 | ENSG00000146233.8 | transcript | ENST00000275016.3 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
CYP39A1_chr6_46544580_46657818 | 46630130 | C | CAACAA | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG02886.hp2 others(7): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0004 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0003g0186 others(7): Show |
10 | 310 | 0.0323 | 5 | c.840 others(20): Show |
CYP39A1 | ENSG00000146233.8 | transcript | ENST00000275016.3 | protein_coding | 6/11 | chr6 | TogoVar |