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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CXCL14_chr5_135565679_135583991 | 135568847 | T | TCTGCC | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG00733.hp1 others(34): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0010a0001c0002t0023 | a0001c0002t0003g0003a0001c0002t0003g0034a0001c0002t0010g0019others(1): Show | 37 | 402 | 0.0920 | 5 | c.*30 others(16): Show |
CXCL14 | ENSG00000145824.13 | transcript | ENST00000512158.6 | protein_coding | 1831 | chr5 | TogoVar | ||||||
CXCL17_chr19_42423278_42447946 | 42438381 | A | ATATAT | intron_variant | MODIFIER | HG01981.hp2 HG03688.hp1 HG03831.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0064a0001c0001t0001g0163a0001c0001t0002g0201others(2): Show | 5 | 368 | 0.0136 | 5 | c.79+ others(20): Show |
CXCL17 | ENSG00000189377.9 | transcript | ENST00000601181.6 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
CXCL2_chr4_74092040_74104195 | 74099830 | T | TGTGTG | upstream_gene_variant | MODIFIER | HG01496.hp2 HG04228.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 3 | 398 | 0.0075 | 5 | c.-71 others(14): Show |
CXCL2 | ENSG00000081041.9 | transcript | ENST00000508487.3 | protein_coding | 636 | chr4 | TogoVar | ||||||
CXXC1_chr18_50277347_50292692 | 50291850 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(31): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0007others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0007t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0036a0001c0004t0001g0007others(2): Show | 34 | 422 | 0.0806 | 5 | c.-42 others(16): Show |
CXXC1 | ENSG00000154832.16 | transcript | ENST00000285106.11 | protein_coding | 4159 | chr18 | TogoVar | ||||||
CXXC4_chr4_104463308_104499894 | 104473135 | C | CTTAAA | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01884.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0005a0001c0001t0008a0001c0001t0010others(10): Show | a0001c0001t0005g0080a0001c0001t0005g0138a0001c0001t0005g0178others(19): Show | 29 | 332 | 0.0874 | 5 | c.106 others(22): Show |
CXXC4 | ENSG00000168772.12 | transcript | ENST00000394767.3 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
CXorf49_chrX_71709371_71723285 | 71719663 | T | TAAGAA | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 73 | 0.0137 | 5 | c.-15 others(16): Show |
CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 1379 | chrX | TogoVar | ||||||
CXorf49_chrX_71709371_71723285 | 71722960 | T | TGGGGG | upstream_gene_variant | MODIFIER | HG00558.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0009 | 1 | 73 | 0.0137 | 5 | c.-48 others(16): Show |
CXorf49 | ENSG00000215115.7 | transcript | ENST00000535490.3 | protein_coding | 4676 | chrX | TogoVar | ||||||
CXorf51B_chrX_146804771_146815411 | 146805516 | G | GGAAGA | upstream_gene_variant | MODIFIER | NA18972.hp2 | a0000 | a0000c0003 | a0000c0003t0002 | a0000c0003t0002g0000 | 1 | 272 | 0.0037 | 5 | c.-42 others(16): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 4254 | chrX | TogoVar | ||||||
CXorf51B_chrX_146804771_146815411 | 146808101 | G | GAGAAA | upstream_gene_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 272 | 0.0037 | 5 | c.-16 others(16): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1669 | chrX | TogoVar | ||||||
CXorf58_chrX_23903006_23944509 | 23911953 | C | CTTTTT | intron_variant | MODIFIER | HG03098.hp1 NA19057.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0190a0001c0003t0001g0196 | 2 | 295 | 0.0068 | 5 | c.216 others(20): Show |
CXorf58 | ENSG00000165182.12 | transcript | ENST00000379211.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CXorf58_chrX_23903006_23944509 | 23917832 | C | CTTTAT | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0196 | 1 | 295 | 0.0034 | 5 | c.423 others(22): Show |
CXorf58 | ENSG00000165182.12 | transcript | ENST00000379211.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CXorf58_chrX_23903006_23944509 | 23941764 | G | GTTTTT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00642.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0019others(13): Show | 20 | 295 | 0.0678 | 5 | c.*24 others(16): Show |
CXorf58 | ENSG00000165182.12 | transcript | ENST00000379211.8 | protein_coding | 2256 | chrX | TogoVar | ||||||
CYB561A3_chr11_61343805_61366882 | 61348349 | C | CATCAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(170): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(59): Show | 173 | 260 | 0.6654 | 5 | c.*20 others(16): Show |
CYB561A3 | ENSG00000162144.10 | transcript | ENST00000294072.9 | protein_coding | 455 | chr11 | TogoVar | ||||||
CYB5A_chr18_74245846_74296963 | 74276563 | C | CACACA | intron_variant | MODIFIER | HG02055.hp2 HG04115.hp2 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0249a0001c0001t0001g0274a0001c0001t0025g0240 | 3 | 396 | 0.0076 | 5 | c.130 others(24): Show |
CYB5A | ENSG00000166347.19 | transcript | ENST00000340533.9 | protein_coding | 1/4 | chr18 | TogoVar | ||||||
CYB5B_chr16_69419619_69471264 | 69420935 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG01884.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0023 | a0001c0001t0003g0007a0001c0001t0003g0022a0001c0001t0003g0273others(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 | a0001c0001t0001g0149a0001c0001t0001g0162a0001c0001t0002g0002others(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 | a0001c0001t0008g0138a0003c0003t0004g0092a0003c0003t0004g0094 | 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 | a0001c0001t0002g0025a0001c0001t0002g0066a0001c0001t0002g0067others(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 | a0001c0001t0004g0003a0001c0001t0005g0005a0001c0001t0006g0007others(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 | a0001c0020a0001c0046a0002c0010 | a0001c0020t0022a0001c0046t0021a0002c0010t0021others(1): Show | a0001c0020t0022g0086a0001c0046t0021g0069a0002c0010t0021g0159others(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 | a0001c0002a0002c0004a0002c0045others(1): Show | a0001c0002t0007a0001c0002t0008a0002c0004t0005others(2): Show | a0001c0002t0007g0021a0001c0002t0008g0311a0002c0004t0005g0265others(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 |
a0001a0002a0012 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0088a0001c0001t0002g0274a0001c0001t0003g0056others(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 |
a0001a0002a0012others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0032a0001c0001t0001g0088a0001c0001t0001g0090others(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 | a0001c0001t0001g0251a0001c0001t0002g0037a0001c0001t0003g0056others(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 |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0139a0001c0001t0001g0237a0001c0001t0002g0155others(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 | a0001c0001t0001g0144a0001c0001t0002g0132a0001c0002t0003g0284 | 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 | a0001c0001t0004g0212a0001c0002t0002g0114a0001c0002t0005g0108others(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 | a0001c0001t0001g0032a0001c0001t0004g0035a0001c0002t0001g0034others(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 | a0001c0001t0002g0002a0001c0001t0002g0067a0001c0001t0006g0092others(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 | a0001c0001t0002g0007a0001c0001t0002g0047a0001c0001t0002g0164others(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 | a0001c0001t0002g0055a0001c0001t0004g0202a0001c0001t0005g0308others(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 | a0001c0001t0005g0238a0001c0001t0011g0233a0001c0001t0011g0234others(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 | a0001c0001t0003g0051a0001c0001t0004g0206a0001c0001t0005g0215others(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 | a0001c0001t0001g0017a0001c0001t0001g0038a0001c0001t0001g0171others(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 | a0001c0002t0002g0002a0001c0002t0002g0029a0001c0003t0001g0010 | 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 |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0108a0001c0001t0001g0186a0001c0001t0002g0024others(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 | a0001c0002t0001g0187a0001c0002t0023g0115a0001c0005t0005g0031 | 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 | a0001c0001t0001g0262a0001c0002t0001g0138a0001c0002t0006g0143others(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 | a0001c0001t0001g0033a0001c0001t0001g0047a0001c0001t0001g0087others(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 | a0004c0006t0006g0009a0004c0006t0018g0022 | 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 |
a0003 | a0003c0003 | a0003c0003t0009a0003c0003t0022a0003c0003t0052others(7): Show | a0003c0003t0009g0006a0003c0003t0009g0018a0003c0003t0009g0022others(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 | a0002c0002t0002g0236a0002c0002t0002g0292a0002c0002t0102g0252 | 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(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(146): Show | a0001c0001t0001g0035a0001c0001t0001g0042a0001c0001t0001g0046others(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 |
a0001a0007 | a0001c0001a0007c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(31): Show | a0001c0001t0001g0042a0001c0001t0001g0046a0001c0001t0001g0067others(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 | a0001c0003t0001g0078a0001c0003t0001g0086a0001c0003t0001g0126others(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 |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0002t0001a0003c0007t0001 | a0001c0001t0001g0050a0001c0001t0001g0062a0001c0001t0001g0147others(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 |
a0001a0004 | a0001c0001a0004c0014 | a0001c0001t0001a0004c0014t0001 | a0001c0001t0001g0021a0001c0001t0001g0084a0001c0001t0001g0141others(2): Show | 6 | 298 | 0.0201 | 5 | c.256 others(22): Show |
CYP27A1 | ENSG00000135929.9 | transcript | ENST00000258415.9 | protein_coding | 1/8 | chr2 | TogoVar |