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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CYCS_chr7_25113656_25130260 | 25124125 | A | C | splice_region_variant | LOW | HG00140.hp2 HG01123.hp1 HG01515.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0010 | 4 | 436 | 0.0092 | 0 | c.-6T others(2): Show |
CYCS | ENSG00000172115.9 | transcript | ENST00000305786.7 | protein_coding | 2/3 | chr7 | TogoVar | ||||||
CYFIP1_chr15_22862052_22985368 | 22874544 | C | T | splice_region_variant others(1): Show |
LOW | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139a0001c0001t0001g0237 | 2 | 342 | 0.0059 | 0 | c.321 others(6): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 28/30 | chr15 | TogoVar | ||||||
CYFIP1_chr15_22862052_22985368 | 22910636 | A | C | splice_region_variant others(1): Show |
LOW | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 | 1 | 342 | 0.0029 | 0 | c.216 others(6): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 19/30 | chr15 | TogoVar | ||||||
CYFIP1_chr15_22862052_22985368 | 22932347 | A | G | splice_region_variant others(1): Show |
LOW | HG02895.hp1 HG02897.hp2 HG02970.hp1 others(4): Show |
a0001a0002 | a0001c0015a0002c0004a0002c0014others(2): Show | a0001c0015t0001a0002c0004t0005a0002c0014t0007others(3): Show | a0001c0015t0001g0048a0002c0004t0005g0265a0002c0014t0007g0160others(4): Show | 7 | 342 | 0.0205 | 0 | c.993 others(5): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 10/30 | chr15 | TogoVar | ||||||
CYFIP1_chr15_22862052_22985368 | 22939404 | G | GCCTT | splice_region_variant others(1): Show |
LOW | HG02055.hp2 HG02572.hp1 HG03098.hp1 |
a0002a0011 | a0002c0024a0002c0025a0011c0026 | a0002c0024t0009a0002c0025t0009a0011c0026t0005 | a0002c0024t0009g0058a0002c0025t0009g0076a0011c0026t0005g0085 | 3 | 342 | 0.0088 | 4 | c.666 others(15): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 7/30 | chr15 | TogoVar | ||||||
CYFIP1_chr15_22862052_22985368 | 22944855 | G | A | splice_region_variant others(1): Show |
LOW | HG01496.hp2 HG02559.hp2 HG02622.hp1 |
a0001a0002 | a0001c0007a0001c0012a0002c0038 | a0001c0007t0008a0001c0012t0008a0002c0038t0001 | a0001c0007t0008g0002a0001c0012t0008g0050a0002c0038t0001g0026 | 3 | 342 | 0.0088 | 0 | c.285 others(5): Show |
CYFIP1 | ENSG00000273749.5 | transcript | ENST00000617928.5 | protein_coding | 4/30 | chr15 | TogoVar | ||||||
CYFIP2_chr5_157261123_157400594 | 157296667 | C | T | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG01243.hp2 HG01943.hp1 others(2): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001a0001c0005t0015others(1): Show | a0001c0002t0001g0057a0001c0002t0001g0304a0001c0005t0001g0315others(2): Show | 5 | 326 | 0.0153 | 0 | c.286 others(5): Show |
CYFIP2 | ENSG00000055163.21 | transcript | ENST00000620254.5 | protein_coding | 4/30 | chr5 | TogoVar | ||||||
CYGB_chr17_76522356_76542709 | 76531454 | G | A | splice_region_variant others(1): Show |
LOW | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 396 | 0.0025 | 0 | c.375 others(5): Show |
CYGB | ENSG00000161544.10 | transcript | ENST00000293230.10 | protein_coding | 2/3 | chr17 | TogoVar | ||||||
CYLC2_chr9_102990333_103023488 | 103001563 | TTTTTG | T | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG01167.hp1 HG01261.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0028a0001c0001t0029others(4): Show | a0001c0001t0013g0009a0001c0001t0013g0090a0001c0001t0013g0092others(15): Show | 22 | 448 | 0.0491 | -5 | c.18- others(15): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CYLC2_chr9_102990333_103023488 | 103011947 | C | CT | splice_region_variant others(1): Show |
LOW | HG00438.hp1 HG00621.hp2 HG00733.hp1 others(53): Show |
a0001a0004a0007others(2): Show | a0001c0001a0004c0004a0007c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0010a0001c0001t0001g0032a0001c0001t0001g0040others(49): Show | 56 | 448 | 0.1250 | 1 | c.*70 others(7): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CYLC2_chr9_102990333_103023488 | 103011947 | C | CTT | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0142others(48): Show | 70 | 448 | 0.1563 | 2 | c.*70 others(15): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CYLC2_chr9_102990333_103023488 | 103011947 | C | CTTT | splice_region_variant others(1): Show |
LOW | HG00738.hp2 HG01070.hp1 HG01071.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0144a0001c0001t0001g0173a0001c0001t0002g0042others(10): Show | 14 | 448 | 0.0313 | 3 | c.*70 others(17): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CYLC2_chr9_102990333_103023488 | 103011947 | CT | C | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(100): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0002a0001c0001t0001g0028a0001c0001t0001g0048others(78): Show | 103 | 448 | 0.2299 | -1 | c.*70 others(7): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CYLC2_chr9_102990333_103023488 | 103011947 | CTT | C | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00323.hp1 HG00738.hp1 others(53): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0010c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(26): Show | a0001c0001t0001g0004a0001c0001t0002g0130a0001c0001t0007g0030others(44): Show | 56 | 448 | 0.1250 | -2 | c.*70 others(15): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CYLC2_chr9_102990333_103023488 | 103011947 | CTTT | C | splice_region_variant others(1): Show |
LOW | HG01167.hp1 HG02717.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0019a0001c0001t0028others(3): Show | a0001c0001t0013g0090a0001c0001t0019g0253a0001c0001t0028g0089others(3): Show | 6 | 448 | 0.0134 | -3 | c.*70 others(17): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CYLC2_chr9_102990333_103023488 | 103018325 | G | A | splice_region_variant | LOW | HG02572.hp1 HG02723.hp1 HG02809.hp1 others(3): Show |
a0001a0010 | a0001c0001a0001c0005a0010c0012 | a0001c0001t0058a0001c0001t0059a0001c0001t0067others(2): Show | a0001c0001t0058g0058a0001c0001t0059g0058a0001c0001t0067g0247others(3): Show | 6 | 448 | 0.0134 | 0 | c.*89 others(4): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 8/8 | chr9 | TogoVar | ||||||
CYP11A1_chr15_74332762_74372646 | 74339201 | GACTGGCA others(26): Show |
G | splice_region_variant others(1): Show |
LOW | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 380 | 0.0026 | -33 | c.123 others(47): Show |
CYP11A1 | ENSG00000140459.18 | transcript | ENST00000268053.11 | protein_coding | 7/8 | chr15 | TogoVar | ||||||
CYP11A1_chr15_74332762_74372646 | 74343142 | G | A | splice_region_variant others(1): Show |
LOW | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 380 | 0.0026 | 0 | c.830 others(5): Show |
CYP11A1 | ENSG00000140459.18 | transcript | ENST00000268053.11 | protein_coding | 4/8 | chr15 | TogoVar | ||||||
CYP11B1_chr8_142867357_142884825 | 142875154 | T | C | missense_variant others(1): Show |
MODERATE | NA19030.hp2 | a0010 | a0010c0017 | a0010c0017t0012 | a0010c0017t0012g0055 | 1 | 428 | 0.0023 | 0 | c.120 others(4): Show |
p.Thr others(6): Show |
CYP11B1 | ENSG00000160882.13 | transcript | ENST00000292427.10 | protein_coding | 8/9 | 1213/3540 | 1201/1512 | 401/503 | chr8 | TogoVar | ||
CYP11B1_chr8_142867357_142884825 | 142875713 | G | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG01167.hp1 HG01169.hp1 others(2): Show |
a0001 | a0001c0008 | a0001c0008t0003a0001c0008t0008 | a0001c0008t0003g0026a0001c0008t0008g0018 | 5 | 428 | 0.0117 | 0 | c.112 others(4): Show |
p.Arg others(6): Show |
CYP11B1 | ENSG00000160882.13 | transcript | ENST00000292427.10 | protein_coding | 6/9 | 1132/3540 | 1120/1512 | 374/503 | chr8 | TogoVar | ||
CYP11B1_chr8_142867357_142884825 | 142876683 | G | A | splice_region_variant others(1): Show |
LOW | HG03471.hp2 | a0001 | a0001c0020 | a0001c0020t0015 | a0001c0020t0015g0049 | 1 | 428 | 0.0023 | 0 | c.798 others(3): Show |
p.Tyr others(6): Show |
CYP11B1 | ENSG00000160882.13 | transcript | ENST00000292427.10 | protein_coding | 4/9 | 810/3540 | 798/1512 | 266/503 | chr8 | TogoVar | ||
CYP11B1_chr8_142867357_142884825 | 142879026 | G | A | splice_region_variant others(1): Show |
LOW | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0067 | 1 | 428 | 0.0023 | 0 | c.395 others(5): Show |
CYP11B1 | ENSG00000160882.13 | transcript | ENST00000292427.10 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CYP11B2_chr8_142905559_142922843 | 142910559 | A | G | splice_region_variant | LOW | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0002 | 1 | 446 | 0.0022 | 0 | c.*14 others(5): Show |
CYP11B2 | ENSG00000179142.2 | transcript | ENST00000323110.2 | protein_coding | 9/9 | chr8 | TogoVar | ||||||
CYP11B2_chr8_142905559_142922843 | 142912527 | T | C | splice_region_variant others(1): Show |
LOW | HG00558.hp1 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0068 | 1 | 446 | 0.0022 | 0 | c.139 others(6): Show |
CYP11B2 | ENSG00000179142.2 | transcript | ENST00000323110.2 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
CYP11B2_chr8_142905559_142922843 | 142912530 | G | A | splice_region_variant others(1): Show |
LOW | HG00558.hp1 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0068 | 1 | 446 | 0.0022 | 0 | c.139 others(4): Show |
p.His others(6): Show |
CYP11B2 | ENSG00000179142.2 | transcript | ENST00000323110.2 | protein_coding | 8/9 | 1401/2936 | 1398/1512 | 466/503 | chr8 | TogoVar | ||
CYP11B2_chr8_142905559_142922843 | 142913286 | G | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(294): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0007a0001c0019others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0015others(79): Show | 297 | 446 | 0.6659 | 0 | c.112 others(4): Show |
p.Arg others(6): Show |
CYP11B2 | ENSG00000179142.2 | transcript | ENST00000323110.2 | protein_coding | 6/9 | 1123/2936 | 1120/1512 | 374/503 | chr8 | TogoVar | ||
CYP11B2_chr8_142905559_142922843 | 142914417 | A | G | splice_region_variant others(1): Show |
LOW | HG02280.hp1 | a0012 | a0012c0030 | a0012c0030t0003 | a0012c0030t0003g0077 | 1 | 446 | 0.0022 | 0 | c.801 others(3): Show |
p.Gly others(6): Show |
CYP11B2 | ENSG00000179142.2 | transcript | ENST00000323110.2 | protein_coding | 5/9 | 804/2936 | 801/1512 | 267/503 | chr8 | TogoVar | ||
CYP11B2_chr8_142905559_142922843 | 142914421 | G | A | splice_region_variant others(1): Show |
LOW | HG02280.hp1 | a0012 | a0012c0030 | a0012c0030t0003 | a0012c0030t0003g0077 | 1 | 446 | 0.0022 | 0 | c.800 others(5): Show |
CYP11B2 | ENSG00000179142.2 | transcript | ENST00000323110.2 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
CYP11B2_chr8_142905559_142922843 | 142914425 | A | G | splice_region_variant others(1): Show |
LOW | HG02280.hp1 | a0012 | a0012c0030 | a0012c0030t0003 | a0012c0030t0003g0077 | 1 | 446 | 0.0022 | 0 | c.800 others(5): Show |
CYP11B2 | ENSG00000179142.2 | transcript | ENST00000323110.2 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
CYP11B2_chr8_142905559_142922843 | 142914707 | T | C | missense_variant others(1): Show |
MODERATE | HG02040.hp1 | a0009 | a0009c0028 | a0009c0028t0004 | a0009c0028t0004g0115 | 1 | 446 | 0.0022 | 0 | c.797 others(3): Show |
p.Tyr others(6): Show |
CYP11B2 | ENSG00000179142.2 | transcript | ENST00000323110.2 | protein_coding | 4/9 | 800/2936 | 797/1512 | 266/503 | chr8 | TogoVar | ||
CYP19A1_chr15_51203057_51343596 | 51227771 | C | T | splice_region_variant others(1): Show |
LOW | HG01109.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0251 | 1 | 306 | 0.0033 | 0 | c.451 others(5): Show |
CYP19A1 | ENSG00000137869.16 | transcript | ENST00000396402.6 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
CYP19A1_chr15_51203057_51343596 | 51338496 | C | T | splice_region_variant | LOW | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0008 | 1 | 306 | 0.0033 | 0 | c.-40 others(3): Show |
CYP19A1 | ENSG00000137869.16 | transcript | ENST00000396402.6 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
CYP1A1_chr15_74714542_74730528 | 74723130 | A | G | splice_region_variant others(1): Show |
LOW | HG02080.hp2 NA18986.hp1 NA19010.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 4 | 434 | 0.0092 | 0 | c.-29 others(5): Show |
CYP1A1 | ENSG00000140465.15 | transcript | ENST00000379727.8 | protein_coding | 1/6 | chr15 | TogoVar | ||||||
CYP1A2_chr15_74743845_74761607 | 74751758 | G | A | splice_region_variant others(1): Show |
LOW | HG03579.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0077 | 1 | 416 | 0.0024 | 0 | c.953 others(5): Show |
CYP1A2 | ENSG00000140505.7 | transcript | ENST00000343932.5 | protein_coding | 3/6 | chr15 | TogoVar | ||||||
CYP1A2_chr15_74743845_74761607 | 74752119 | T | C | splice_region_variant others(1): Show |
LOW | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0035 | 1 | 416 | 0.0024 | 0 | c.104 others(6): Show |
CYP1A2 | ENSG00000140505.7 | transcript | ENST00000343932.5 | protein_coding | 4/6 | chr15 | TogoVar | ||||||
CYP1B1_chr2_38062509_38081151 | 38075780 | C | T | splice_region_variant | LOW | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0031 | 1 | 368 | 0.0027 | 0 | c.-2G others(2): Show |
CYP1B1 | ENSG00000138061.12 | transcript | ENST00000610745.5 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
CYP20A1_chr2_203234018_203311026 | 203251967 | C | T | missense_variant others(1): Show |
MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(292): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(149): Show | a0001c0001t0001g0035a0001c0001t0001g0042a0001c0001t0001g0046others(290): Show | 295 | 334 | 0.8832 | 0 | c.290 others(3): Show |
p.Ser others(5): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 4/13 | 335/10552 | 290/1389 | 97/462 | chr2 | TogoVar | ||
CYP21A2_chr6_32033415_32046644 | 32039538 | T | C | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00544.hp1 HG00642.hp2 others(21): Show |
a0001a0005a0014others(2): Show | a0001c0001a0005c0012a0014c0026others(3): Show | a0001c0001t0002a0005c0012t0002a0005c0012t0014others(4): Show | a0001c0001t0002g0012a0005c0012t0002g0019a0005c0012t0002g0063others(5): Show | 24 | 459 | 0.0523 | 0 | c.550 others(5): Show |
CYP21A2 | ENSG00000231852.9 | transcript | ENST00000644719.2 | protein_coding | 4/9 | chr6 | TogoVar | ||||||
CYP21A2_chr6_32033415_32046644 | 32039548 | C | G | missense_variant others(1): Show |
MODERATE | HG00280.hp2 HG00544.hp1 HG01081.hp2 others(11): Show |
a0005a0014a0019others(1): Show | a0005c0012a0014c0026a0014c0046others(3): Show | a0005c0012t0002a0005c0012t0014a0014c0026t0001others(4): Show | a0005c0012t0002g0019a0005c0012t0002g0063a0005c0012t0014g0019others(5): Show | 14 | 459 | 0.0305 | 0 | c.552 others(3): Show |
p.Asp others(6): Show |
CYP21A2 | ENSG00000231852.9 | transcript | ENST00000644719.2 | protein_coding | 5/10 | 560/2006 | 552/1488 | 184/495 | chr6 | TogoVar | ||
CYP26A1_chr10_93068893_93082885 | 93074303 | C | T | splice_region_variant others(1): Show |
LOW | HG01255.hp2 HG01975.hp2 HG01978.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 4 | 418 | 0.0096 | 0 | c.190 others(5): Show |
CYP26A1 | ENSG00000095596.12 | transcript | ENST00000224356.5 | protein_coding | 1/6 | chr10 | TogoVar | ||||||
CYP26A1_chr10_93068893_93082885 | 93075314 | A | G | splice_region_variant others(1): Show |
LOW | HG02055.hp1 HG02451.hp2 HG02615.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0002g0003 | 13 | 418 | 0.0311 | 0 | c.864 others(5): Show |
CYP26A1 | ENSG00000095596.12 | transcript | ENST00000224356.5 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
CYP26A1_chr10_93068893_93082885 | 93075315 | G | A | splice_region_variant others(1): Show |
LOW | HG02055.hp1 HG02451.hp2 HG02615.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0002g0003 | 13 | 418 | 0.0311 | 0 | c.864 others(5): Show |
CYP26A1 | ENSG00000095596.12 | transcript | ENST00000224356.5 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
CYP26B1_chr2_72124238_72152862 | 72135137 | T | C | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG03041.hp2 HG03130.hp2 others(2): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0011a0002c0006t0011a0002c0006t0015 | a0002c0002t0011g0158a0002c0006t0011g0126a0002c0006t0015g0119others(2): Show | 5 | 312 | 0.0160 | 0 | c.705 others(5): Show |
CYP26B1 | ENSG00000003137.9 | transcript | ENST00000001146.7 | protein_coding | 3/5 | chr2 | TogoVar | ||||||
CYP26C1_chr10_93055798_93074540 | 93062999 | C | T | splice_region_variant others(1): Show |
LOW | HG02970.hp1 HG02976.hp2 HG03041.hp1 others(6): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0008c0010t0001 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0032others(2): Show | 9 | 398 | 0.0226 | 0 | c.705 others(5): Show |
CYP26C1 | ENSG00000187553.10 | transcript | ENST00000651965.1 | protein_coding | 3/5 | chr10 | TogoVar | ||||||
CYP27A1_chr2_218777147_218820293 | 218813096 | G | A | splice_region_variant others(1): Show |
LOW | HG03041.hp1 HG03579.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0059a0001c0006t0001g0060 | 2 | 298 | 0.0067 | 0 | c.101 others(4): Show |
p.Thr others(6): Show |
CYP27A1 | ENSG00000135929.9 | transcript | ENST00000258415.9 | protein_coding | 5/9 | 1053/1895 | 1017/1596 | 339/531 | chr2 | TogoVar | ||
CYP27C1_chr2_127178832_127225299 | 127205897 | C | T | splice_region_variant others(1): Show |
LOW | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(7): Show |
a0001a0003 | a0001c0002a0003c0006a0003c0008others(1): Show | a0001c0002t0007a0003c0006t0017a0003c0006t0028others(2): Show | a0001c0002t0007g0334a0001c0002t0007g0335a0001c0002t0007g0336others(7): Show | 10 | 352 | 0.0284 | 0 | c.473 others(5): Show |
CYP27C1 | ENSG00000186684.14 | transcript | ENST00000664447.2 | protein_coding | 2/8 | chr2 | TogoVar | ||||||
CYP2A13_chr19_41083451_41101195 | 41091725 | A | G | splice_region_variant others(1): Show |
LOW | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 422 | 0.0024 | 0 | c.655 others(5): Show |
CYP2A13 | ENSG00000197838.5 | transcript | ENST00000330436.4 | protein_coding | 4/8 | chr19 | TogoVar | ||||||
CYP2A7_chr19_40870439_40887231 | 40877380 | G | C | splice_region_variant others(1): Show |
LOW | NA18970.hp1 NA18983.hp2 |
a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0173a0003c0002t0003g0175 | 2 | 398 | 0.0050 | 0 | c.974 others(5): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 6/8 | chr19 | TogoVar | ||||||
CYP2A7_chr19_40870439_40887231 | 40880471 | T | C | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG01928.hp2 |
a0021 | a0021c0025 | a0021c0025t0010 | a0021c0025t0010g0115a0021c0025t0010g0116 | 2 | 398 | 0.0050 | 0 | c.493 others(5): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 3/8 | chr19 | TogoVar | ||||||
CYP2A7_chr19_40870439_40887231 | 40880473 | A | G | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG01928.hp2 |
a0021 | a0021c0025 | a0021c0025t0010 | a0021c0025t0010g0115a0021c0025t0010g0116 | 2 | 398 | 0.0050 | 0 | c.493 others(5): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 3/8 | chr19 | TogoVar |