| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CUX1_chr7_101811007_102288958 | 102073165 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0124 | 2 | 132 | 0.0152 | 13 | c.301 others(30): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000622516.6 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CUX1_chr7_101811007_102288958 | 102222811 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG00735.hp1 others(17): Show |
a0001a0002a0005 | a0001c0002a0002c0003a0002c0004others(1): Show | a0001c0002t0001a0001c0002t0006a0002c0003t0001others(4): Show | a0001c0002t0001g0008a0001c0002t0001g0020a0001c0002t0001g0021others(17): Show | 20 | 132 | 0.1515 | 13 | c.125 others(34): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000622516.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CUX1_chr7_101812626_102263233 | 101821671 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0135 | 1 | 136 | 0.0074 | 13 | c.30+ others(28): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000292535.12 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CUX1_chr7_101812626_102263233 | 101984077 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02109.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0048a0001c0001t0056 | a0001c0001t0022g0099a0001c0001t0048g0056a0001c0001t0056g0113 | 3 | 136 | 0.0221 | 13 | c.142 others(32): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000292535.12 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CUX1_chr7_101812626_102263233 | 102017195 | T | TCAGGAGA others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01123.hp2 HG01258.hp1 others(45): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(30): Show | a0001c0001t0003g0024a0001c0001t0003g0040a0001c0001t0006g0043others(45): Show | 48 | 136 | 0.3529 | 13 | c.142 others(32): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000292535.12 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CUX1_chr7_101812626_102263233 | 102073165 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03540.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0031a0001c0003t0004g0125 | 2 | 136 | 0.0147 | 13 | c.268 others(30): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000292535.12 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CUX1_chr7_101812626_102263233 | 102222811 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG00735.hp1 others(19): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0006others(2): Show | a0001c0002t0001a0001c0002t0024a0001c0002t0063others(12): Show | a0001c0002t0001g0055a0001c0002t0001g0081a0001c0002t0001g0093others(19): Show | 22 | 136 | 0.1618 | 13 | c.313 others(32): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000292535.12 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CWC27_chr5_64763930_65023750 | 64850225 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00741.hp1 others(28): Show |
a0002 | a0002c0002a0002c0004a0002c0006 | a0002c0002t0002a0002c0004t0001a0002c0004t0002others(3): Show | a0002c0002t0002g0023a0002c0002t0002g0058a0002c0002t0002g0060others(28): Show | 31 | 260 | 0.1192 | 13 | c.939 others(32): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CWC27_chr5_64763930_65023750 | 64878470 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02071.hp2 NA18943.hp1 |
a0002 | a0002c0004a0002c0006 | a0002c0004t0002a0002c0006t0001 | a0002c0004t0002g0070a0002c0006t0001g0027 | 2 | 260 | 0.0077 | 13 | c.939 others(30): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CWC27_chr5_64763930_65023750 | 64885698 | G | GTGTGTGT others(6): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 260 | 0.0039 | 13 | c.104 others(30): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 11/13 | chr5 | TogoVar | ||||||
| CWC27_chr5_64763930_65023750 | 64905200 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03209.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0088a0002c0002t0002g0090 | 2 | 260 | 0.0077 | 13 | c.104 others(34): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CWC27_chr5_64763930_65023750 | 64937921 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0011 | 1 | 260 | 0.0039 | 13 | c.104 others(34): Show |
CWC27 | ENSG00000153015.17 | transcript | ENST00000381070.8 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CX3CR1_chr3_39258496_39285036 | 39283794 | A | AAAAATAT others(6): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 420 | 0.0024 | 13 | c.-38 others(24): Show |
CX3CR1 | ENSG00000168329.14 | transcript | ENST00000399220.3 | protein_coding | 3759 | chr3 | TogoVar | ||||||
| CXADR_chr21_17508043_17575100 | 17534789 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG04184.hp2 NA19072.hp1 |
a0001a0003 | a0001c0002a0003c0010 | a0001c0002t0008a0003c0010t0036 | a0001c0002t0008g0044a0003c0010t0036g0344 | 2 | 352 | 0.0057 | 13 | c.44- others(30): Show |
CXADR | ENSG00000154639.19 | transcript | ENST00000284878.12 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CXCR2_chr2_218121028_218142251 | 218138492 | C | CTCTCTCT others(6): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0011 | 1 | 364 | 0.0028 | 13 | c.*26 others(24): Show |
CXCR2 | ENSG00000180871.8 | transcript | ENST00000318507.7 | protein_coding | 1242 | chr2 | TogoVar | ||||||
| CXXC4_chr4_104463308_104499894 | 104464362 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 HG02809.hp2 HG03471.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0003g0167a0001c0001t0005g0080a0001c0001t0008g0018others(3): Show | 6 | 332 | 0.0181 | 13 | c.*79 others(24): Show |
CXXC4 | ENSG00000168772.12 | transcript | ENST00000394767.3 | protein_coding | 3945 | chr4 | TogoVar | ||||||
| CYB5B_chr16_69419619_69471264 | 69424066 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0263a0001c0001t0004g0266 | 2 | 406 | 0.0049 | 13 | c.-61 others(22): Show |
CYB5B | ENSG00000103018.18 | transcript | ENST00000307892.13 | protein_coding | 552 | chr16 | TogoVar | ||||||
| CYB5R1_chr1_202956873_202972257 | 202967363 | G | GGGGGGGG others(6): Show |
upstream_gene_variant | MODIFIER | NA19072.hp2 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0055 | 1 | 450 | 0.0022 | 13 | c.-15 others(22): Show |
CYB5R1 | ENSG00000159348.13 | transcript | ENST00000367249.9 | protein_coding | 107 | chr1 | TogoVar | ||||||
| CYB5R3_chr22_42612840_42654392 | 42638728 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02647.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0054others(1): Show | a0001c0001t0002g0104a0001c0001t0002g0105a0001c0001t0002g0106others(4): Show | 8 | 360 | 0.0222 | 13 | c.22- others(28): Show |
CYB5R3 | ENSG00000100243.22 | transcript | ENST00000352397.10 | protein_coding | 1/8 | chr22 | TogoVar | ||||||
| CYB5R3_chr22_42612840_42654392 | 42650044 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 HG02040.hp2 HG03516.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0003g0026a0001c0001t0003g0239a0001c0001t0004g0060others(6): Show | 9 | 360 | 0.0250 | 13 | c.-74 others(22): Show |
CYB5R3 | ENSG00000100243.22 | transcript | ENST00000352397.10 | protein_coding | 653 | chr22 | TogoVar | ||||||
| CYB5RL_chr1_54164651_54205030 | 54203952 | T | TTGGCTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0171 | 1 | 412 | 0.0024 | 13 | c.-42 others(24): Show |
CYB5RL | ENSG00000215883.11 | transcript | ENST00000534324.6 | protein_coding | 3923 | chr1 | TogoVar | ||||||
| CYFIP1_chr15_22862052_22985368 | 22908518 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03139.hp1 |
a0001a0002 | a0001c0002a0002c0010 | a0001c0002t0010a0002c0010t0001 | a0001c0002t0010g0299a0002c0010t0001g0113 | 2 | 342 | 0.0059 | 13 | c.238 others(30): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 21/30 | chr15 | TogoVar | ||||||
| CYFIP1_chr15_22862052_22985368 | 22931686 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(38): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0032others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0032a0001c0001t0001g0237a0001c0001t0002g0067others(38): Show | 41 | 342 | 0.1199 | 13 | c.111 others(30): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 11/30 | chr15 | TogoVar | ||||||
| CYFIP1_chr15_22862052_22985368 | 22952659 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02897.hp1 HG03130.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0008others(2): Show | a0001c0001t0003a0001c0002t0003a0001c0002t0005others(4): Show | a0001c0001t0003g0152a0001c0001t0003g0321a0001c0002t0003g0243others(5): Show | 8 | 342 | 0.0234 | 13 | c.-6- others(28): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 1/30 | chr15 | TogoVar | ||||||
| CYFIP2_chr5_157261123_157400594 | 157286579 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0314 | 1 | 326 | 0.0031 | 13 | c.118 others(28): Show |
CYFIP2 | ENSG00000055163.21 | transcript | ENST00000620254.5 | protein_coding | 2/30 | chr5 | TogoVar | ||||||
| CYLC2_chr9_102990333_103023488 | 103013333 | A | ATATATTA others(6): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0014others(1): Show | a0001c0001t0005g0238a0001c0001t0011g0233a0001c0001t0011g0234others(2): Show | 5 | 448 | 0.0112 | 13 | c.*81 others(32): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 6/7 | chr9 | TogoVar | ||||||
| CYP11A1_chr15_74332762_74372646 | 74337138 | C | CCCACCCT others(6): Show |
downstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 380 | 0.0026 | 13 | c.*83 others(22): Show |
CYP11A1 | ENSG00000140459.18 | transcript | ENST00000268053.11 | protein_coding | 623 | chr15 | TogoVar | ||||||
| CYP11B2_chr8_142905559_142922843 | 142910347 | C | CACACACA others(6): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 NA18964.hp1 NA18968.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 3 | 446 | 0.0067 | 13 | c.*16 others(24): Show |
CYP11B2 | ENSG00000179142.2 | transcript | ENST00000323110.2 | protein_coding | 211 | chr8 | TogoVar | ||||||
| CYP19A1_chr15_51203057_51343596 | 51212948 | C | CTCATGTG others(6): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0301 | 1 | 306 | 0.0033 | 13 | c.102 others(30): Show |
CYP19A1 | ENSG00000137869.16 | transcript | ENST00000396402.6 | protein_coding | 8/9 | chr15 | TogoVar | ||||||
| CYP19A1_chr15_51203057_51343596 | 51297869 | C | CACACACA others(6): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01981.hp2 NA18995.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0002 | a0001c0001t0003g0122a0002c0003t0002g0252a0002c0003t0002g0255 | 3 | 306 | 0.0098 | 13 | c.-39 others(32): Show |
CYP19A1 | ENSG00000137869.16 | transcript | ENST00000396402.6 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
| CYP19A1_chr15_51203057_51343596 | 51304890 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02145.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0012a0002c0003t0002g0252 | 2 | 306 | 0.0065 | 13 | c.-39 others(32): Show |
CYP19A1 | ENSG00000137869.16 | transcript | ENST00000396402.6 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
| CYP20A1_chr2_203234018_203311026 | 203271082 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0053 | a0002c0002t0053g0260 | 1 | 334 | 0.0030 | 13 | c.601 others(30): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CYP24A1_chr20_54148446_54178986 | 54154939 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18959.hp1 NA18962.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0002 | a0001c0001t0002g0023a0001c0007t0002g0025a0001c0007t0002g0149others(1): Show | 6 | 456 | 0.0132 | 13 | c.*11 others(28): Show |
CYP24A1 | ENSG00000019186.10 | transcript | ENST00000216862.8 | protein_coding | 11/11 | chr20 | TogoVar | ||||||
| CYP27C1_chr2_127178832_127225299 | 127204547 | G | GAAGAAAG others(6): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 352 | 0.0028 | 13 | c.474 others(28): Show |
CYP27C1 | ENSG00000186684.14 | transcript | ENST00000664447.2 | protein_coding | 2/8 | chr2 | TogoVar | ||||||
| CYP27C1_chr2_127178832_127225299 | 127204625 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 | 1 | 352 | 0.0028 | 13 | c.474 others(30): Show |
CYP27C1 | ENSG00000186684.14 | transcript | ENST00000664447.2 | protein_coding | 2/8 | chr2 | TogoVar | ||||||
| CYP2A13_chr19_41083451_41101195 | 41089672 | C | CCCTCCAT others(6): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01346.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0075 | 3 | 422 | 0.0071 | 13 | c.344 others(28): Show |
CYP2A13 | ENSG00000197838.5 | transcript | ENST00000330436.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CYP2A7_chr19_40870439_40887231 | 40880796 | A | AGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0133 | 1 | 398 | 0.0025 | 13 | c.344 others(28): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
| CYP2C18_chr10_94678729_94741190 | 94712008 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03579.hp2 NA18940.hp1 others(4): Show |
a0002a0003 | a0002c0002a0003c0007 | a0002c0002t0003a0003c0007t0001 | a0002c0002t0003g0015a0002c0002t0003g0071a0002c0002t0003g0111others(1): Show | 7 | 378 | 0.0185 | 13 | c.819 others(30): Show |
CYP2C18 | ENSG00000108242.13 | transcript | ENST00000285979.11 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CYP2C9_chr10_94933658_94995091 | 94989681 | C | CTTTTTTT others(6): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG01261.hp1 others(9): Show |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0021a0002c0003t0004g0135a0002c0003t0004g0136others(8): Show | 12 | 374 | 0.0321 | 13 | c.*66 others(22): Show |
CYP2C9 | ENSG00000138109.11 | transcript | ENST00000260682.8 | protein_coding | 9/9 | 663 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
| CYP2E1_chr10_133522363_133544123 | 133542663 | C | CTTTCTTT others(6): Show |
downstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 414 | 0.0024 | 13 | c.*36 others(24): Show |
CYP2E1 | ENSG00000130649.10 | transcript | ENST00000252945.8 | protein_coding | 3541 | chr10 | TogoVar | ||||||
| CYP2F1_chr19_41109432_41133381 | 41116135 | A | ATCTCACT others(6): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG01169.hp2 others(19): Show |
a0004a0008a0014 | a0004c0007a0004c0021a0008c0011others(1): Show | a0004c0007t0005a0004c0021t0002a0008c0011t0006others(1): Show | a0004c0007t0005g0011a0004c0007t0005g0012a0004c0007t0005g0098others(16): Show | 22 | 374 | 0.0588 | 13 | c.-11 others(26): Show |
CYP2F1 | ENSG00000197446.9 | transcript | ENST00000331105.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CYP2F1_chr19_41109432_41133381 | 41130084 | A | ATTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 HG02293.hp1 NA18939.hp1 |
a0005 | a0005c0006 | a0005c0006t0002a0005c0006t0013 | a0005c0006t0002g0046a0005c0006t0002g0049a0005c0006t0013g0051 | 3 | 374 | 0.0080 | 13 | c.*20 others(24): Show |
CYP2F1 | ENSG00000197446.9 | transcript | ENST00000331105.7 | protein_coding | 1704 | chr19 | TogoVar | ||||||
| CYP2F1_chr19_41109432_41133381 | 41133343 | T | TCTCCCCC others(6): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0078 | 1 | 374 | 0.0027 | 13 | c.*52 others(24): Show |
CYP2F1 | ENSG00000197446.9 | transcript | ENST00000331105.7 | protein_coding | 4963 | chr19 | TogoVar | ||||||
| CYP2S1_chr19_41188219_41212539 | 41205330 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 422 | 0.0024 | 13 | c.116 others(30): Show |
CYP2S1 | ENSG00000167600.14 | transcript | ENST00000310054.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CYP2S1_chr19_41188219_41212539 | 41205342 | T | TCTTTCTT others(6): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 422 | 0.0024 | 13 | c.116 others(30): Show |
CYP2S1 | ENSG00000167600.14 | transcript | ENST00000310054.9 | protein_coding | 7/8 | chr19 | TogoVar | ||||||
| CYP2S1_chr19_41188219_41212539 | 41205342 | T | TTTTCTTT others(6): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 422 | 0.0024 | 13 | c.116 others(30): Show |
CYP2S1 | ENSG00000167600.14 | transcript | ENST00000310054.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CYP2S1_chr19_41188219_41212539 | 41205342 | T | TTTTTCTT others(6): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 422 | 0.0024 | 13 | c.116 others(30): Show |
CYP2S1 | ENSG00000167600.14 | transcript | ENST00000310054.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CYP2U1_chr4_107926549_107958461 | 107955324 | A | ACACACAC others(6): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG01257.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026a0001c0001t0002g0081 | 2 | 382 | 0.0052 | 13 | c.*49 others(24): Show |
CYP2U1 | ENSG00000155016.18 | transcript | ENST00000332884.11 | protein_coding | 1864 | chr4 | TogoVar | ||||||
| CYP2W1_chr7_978181_994640 | 994106 | T | TCACCCTC others(6): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 | 1 | 408 | 0.0025 | 13 | c.*52 others(24): Show |
CYP2W1 | ENSG00000073067.14 | transcript | ENST00000308919.12 | protein_coding | 4467 | chr7 | TogoVar | ||||||
| CYP39A1_chr6_46544580_46657818 | 46616163 | T | TCTTTCTT others(6): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01258.hp2 HG01993.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0054a0001c0001t0001g0065a0001c0001t0001g0242others(3): Show | 6 | 310 | 0.0194 | 13 | c.931 others(30): Show |
CYP39A1 | ENSG00000146233.8 | transcript | ENST00000275016.3 | protein_coding | 7/11 | chr6 | TogoVar |