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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EVX2_chr2_176072472_176088962 | 176084421 | G | GTTTTTTT others(34): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0014 | 1 | 430 | 0.0023 | 41 | c.-64 others(50): Show |
EVX2 | ENSG00000174279.5 | transcript | ENST00000308618.5 | protein_coding | 460 | chr2 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 501140 | A | ATATATTA others(34): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0119 | 1 | 272 | 0.0037 | 41 | c.238 others(60): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 501159 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01243.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095a0001c0001t0001g0126 | 2 | 272 | 0.0074 | 41 | c.238 others(60): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 501159 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0003 | 1 | 272 | 0.0037 | 41 | c.238 others(60): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
EXOC3L2_chr19_45207370_45250407 | 45245307 | G | GGGGACCC others(34): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0349 | 1 | 356 | 0.0028 | 41 | c.-24 others(51): Show |
EXOC3L2 | ENSG00000283632.4 | transcript | ENST00000413988.3 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133558189 | C | CTCTTTTC others(34): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0096 | 1 | 102 | 0.0098 | 41 | c.141 others(62): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC6B_chr2_72170984_72831033 | 72251100 | G | GTATTTAA others(34): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01168.hp2 HG01169.hp1 others(8): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0002t0004a0001c0002t0014others(1): Show | a0001c0002t0003g0011a0001c0002t0004g0012a0001c0002t0004g0013others(8): Show | 11 | 104 | 0.1058 | 41 | c.219 others(62): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92910942 | A | ATTTGGGG others(34): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02922.hp2 HG03139.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0004c0005t0002 | a0001c0001t0002g0163a0004c0005t0002g0161a0004c0005t0002g0166others(2): Show | 5 | 288 | 0.0174 | 41 | c.663 others(58): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOC6_chr10_92843520_93064490 | 92910942 | A | ATTTGGGG others(34): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(168): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(168): Show | 171 | 288 | 0.5938 | 41 | c.663 others(58): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXPH5_chr11_108500435_108598768 | 108586547 | C | CCCCCATC others(34): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0089 | 1 | 314 | 0.0032 | 41 | c.119 others(58): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
EYA1_chr8_71192433_71367069 | 71296401 | A | AAAATTAT others(34): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 | 1 | 232 | 0.0043 | 41 | c.826 others(58): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 9/17 | chr8 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG01257.hp2 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0312a0001c0001t0003g0036 | 2 | 392 | 0.0051 | 41 | c.-68 others(60): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64295384 | A | AGGAAGAG others(34): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0019 | a0019c0023 | a0019c0023t0001 | a0019c0023t0001g0010 | 1 | 24 | 0.0417 | 41 | c.619 others(62): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6202135 | T | TATATAGT others(34): Show |
intron_variant | MODIFIER | NA19240.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002a0001c0001t0004g0011 | 2 | 292 | 0.0069 | 41 | c.111 others(60): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 8/14 | chr6 | TogoVar | ||||||
F5_chr1_169506951_169591481 | 169556425 | T | TAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02896.hp2 |
a0004a0027 | a0004c0069a0027c0068 | a0004c0069t0001a0027c0068t0004 | a0004c0069t0001g0288a0027c0068t0004g0287 | 2 | 306 | 0.0065 | 41 | c.952 others(56): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 6/24 | chr1 | TogoVar | ||||||
FA2H_chr16_74707969_74779820 | 74711204 | T | TATCTTTT others(34): Show |
downstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 388 | 0.0026 | 41 | c.*29 others(52): Show |
FA2H | ENSG00000103089.9 | transcript | ENST00000219368.8 | protein_coding | 1764 | chr16 | TogoVar | ||||||
FAM107B_chr10_14513557_14779897 | 14629451 | T | TATAATAT others(34): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0145 | 1 | 272 | 0.0037 | 41 | c.469 others(60): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
FAM110B_chr8_57989523_58153784 | 58006923 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | NA18972.hp2 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0178a0001c0001t0013g0177 | 2 | 300 | 0.0067 | 41 | c.-51 others(62): Show |
FAM110B | ENSG00000169122.12 | transcript | ENST00000519262.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
FAM178B_chr2_96870885_96991580 | 96937120 | C | CCTGAGCT others(34): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG01099.hp1 others(72): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0017others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(15): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0012others(72): Show | 75 | 250 | 0.3000 | 41 | c.107 others(60): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 8/16 | chr2 | TogoVar | ||||||
FAM184A_chr6_118954763_119083664 | 118970008 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 286 | 0.0035 | 41 | c.291 others(60): Show |
FAM184A | ENSG00000111879.20 | transcript | ENST00000338891.12 | protein_coding | 14/17 | chr6 | TogoVar | ||||||
FAM184A_chr6_118954763_119083664 | 118970008 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 286 | 0.0035 | 41 | c.291 others(60): Show |
FAM184A | ENSG00000111879.20 | transcript | ENST00000338891.12 | protein_coding | 14/17 | chr6 | TogoVar | ||||||
FAM184A_chr6_118954763_119083664 | 118970008 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 286 | 0.0035 | 41 | c.291 others(60): Show |
FAM184A | ENSG00000111879.20 | transcript | ENST00000338891.12 | protein_coding | 14/17 | chr6 | TogoVar | ||||||
FAM186A_chr12_50322309_50401609 | 50346215 | G | GAGAGAGA others(34): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 | 1 | 332 | 0.0030 | 41 | c.650 others(60): Show |
FAM186A | ENSG00000185958.10 | transcript | ENST00000327337.6 | protein_coding | 4/7 | chr12 | TogoVar | ||||||
FAM193A_chr4_2531647_2737573 | 2617262 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0235 | 1 | 330 | 0.0030 | 41 | c.502 others(58): Show |
FAM193A | ENSG00000125386.16 | transcript | ENST00000637812.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
FAM193B_chr5_177514789_177559563 | 177554489 | A | ACGCCGCG others(34): Show |
5_prime_UTR_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0259 | 1 | 370 | 0.0027 | 41 | c.-32 others(48): Show |
FAM193B | ENSG00000146067.17 | transcript | ENST00000514747.6 | protein_coding | 1/9 | 32 | chr5 | TogoVar | |||||
FAM227B_chr15_49321970_49625818 | 49489843 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 294 | 0.0034 | 41 | c.101 others(62): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 11/15 | chr15 | TogoVar | ||||||
FAM241A_chr4_112140454_112200256 | 112197333 | T | TAAAAAAA others(34): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 NA18985.hp1 NA18991.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0039a0001c0001t0090 | a0001c0001t0002g0004a0001c0001t0002g0009a0001c0001t0002g0119others(3): Show | 8 | 388 | 0.0206 | 41 | c.*10 others(54): Show |
FAM241A | ENSG00000174749.6 | transcript | ENST00000309733.6 | protein_coding | 2078 | chr4 | TogoVar | ||||||
FAM83F_chr22_39989954_40048534 | 40012023 | T | TTTTGGAT others(34): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG02622.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0009a0003c0003t0043a0003c0003t0044 | a0003c0003t0009g0083a0003c0003t0009g0085a0003c0003t0009g0086others(4): Show | 7 | 234 | 0.0299 | 41 | c.490 others(58): Show |
FAM83F | ENSG00000133477.17 | transcript | ENST00000333407.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FANK1_chr10_125891564_126014592 | 125919195 | A | ATTTTTTT others(34): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 370 | 0.0027 | 41 | c.13+ others(58): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98153558 | T | TTATATAT others(34): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03540.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0066a0001c0001t0083a0001c0002t0017others(1): Show | a0001c0001t0066g0142a0001c0001t0083g0169a0001c0002t0017g0141others(2): Show | 5 | 218 | 0.0229 | 41 | c.-24 others(60): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FARP1_chr13_98138094_98460176 | 98153558 | T | TTATATAT others(34): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01192.hp2 HG01255.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0019others(14): Show | a0001c0001t0004g0179a0001c0001t0004g0188a0001c0001t0004g0197others(25): Show | 28 | 218 | 0.1284 | 41 | c.-24 others(60): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FASTKD1_chr2_169523508_169578865 | 169561759 | A | ATTAATTT others(34): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0153 | 1 | 392 | 0.0026 | 41 | c.573 others(57): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4/14 | chr2 | TogoVar | ||||||
FASTKD1_chr2_169523508_169578865 | 169561803 | A | ATTAATTT others(34): Show |
intron_variant | MODIFIER | HG02080.hp1 NA19010.hp2 NA19075.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0244a0001c0001t0001g0245a0001c0001t0013g0379 | 3 | 392 | 0.0077 | 41 | c.573 others(58): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4/14 | chr2 | TogoVar | ||||||
FASTKD1_chr2_169523508_169578865 | 169561825 | A | ATTAATTT others(34): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18960.hp1 NA18961.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010a0002c0002t0002g0334a0002c0002t0002g0335others(5): Show | 9 | 392 | 0.0230 | 41 | c.573 others(58): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4/14 | chr2 | TogoVar | ||||||
FASTKD1_chr2_169523508_169578865 | 169576139 | A | AGGGAGAG others(34): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02615.hp2 others(4): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0154a0001c0006t0001g0302a0001c0006t0001g0303others(4): Show | 7 | 392 | 0.0179 | 41 | c.-26 others(52): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 2275 | chr2 | TogoVar | ||||||
FAT1_chr4_186582794_186728856 | 186589307 | A | AGATGCAA others(34): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0214 | 1 | 338 | 0.0030 | 41 | c.131 others(59): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 26/26 | chr4 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128539884 | T | TCATATAT others(34): Show |
upstream_gene_variant | MODIFIER | NA18956.hp2 NA18967.hp2 NA18977.hp2 others(2): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0195a0004c0005t0001g0196a0004c0005t0001g0197others(2): Show | 5 | 236 | 0.0212 | 41 | c.-22 others(52): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1640 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128539940 | T | TATATATC others(34): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0074 | 1 | 236 | 0.0042 | 41 | c.-23 others(52): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1696 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128539967 | T | TATATATC others(34): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0083 | 1 | 236 | 0.0042 | 41 | c.-23 others(52): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1723 | chr5 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128539992 | T | TATATATC others(34): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0037 | a0002c0037t0023 | a0002c0037t0023g0034 | 1 | 236 | 0.0042 | 41 | c.-23 others(52): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1748 | chr5 | TogoVar | ||||||
FBN3_chr19_8060402_8154592 | 8130636 | G | GGAAGGAA others(34): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01106.hp1 HG03130.hp1 |
a0003a0016a0030 | a0003c0006a0016c0018a0030c0211 | a0003c0006t0001a0016c0018t0001a0030c0211t0001 | a0003c0006t0001g0206a0016c0018t0001g0182a0030c0211t0001g0220 | 3 | 380 | 0.0079 | 41 | c.204 others(58): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | ||||||
FBN3_chr19_8060402_8154592 | 8130636 | G | GGAAGGAA others(34): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01070.hp1 HG01071.hp2 others(5): Show |
a0005a0017a0019others(4): Show | a0005c0004a0017c0023a0019c0036others(4): Show | a0005c0004t0002a0017c0023t0001a0019c0036t0002others(4): Show | a0005c0004t0002g0149a0017c0023t0001g0100a0019c0036t0002g0048others(5): Show | 8 | 380 | 0.0211 | 41 | c.204 others(58): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | ||||||
FBN3_chr19_8060402_8154592 | 8130639 | A | AGAAAGGA others(34): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0107 | 1 | 380 | 0.0026 | 41 | c.204 others(58): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132587006 | G | GCGGCAGT others(34): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(246): Show |
a0000a0001a0002others(20): Show | a0000c0009a0000c0014a0000c0015others(56): Show | a0000c0009t0001a0000c0009t0003a0000c0014t0001others(99): Show | a0000c0009t0001g0161a0000c0009t0001g0224a0000c0009t0001g0227others(245): Show | 249 | 348 | 0.7155 | 41 | c.*32 others(52): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 1819 | chr12 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132587007 | C | TGGCAGTG others(34): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0152 | 1 | 348 | 0.0029 | 41 | c.*32 others(52): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 1819 | chr12 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574357 | G | GAGAGGAG others(34): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0385 | 1 | 418 | 0.0024 | 41 | c.119 others(60): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXL17_chr5_107854035_108387098 | 107980664 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG01257.hp1 NA18939.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0019a0001c0008t0020 | a0001c0002t0019g0019a0001c0008t0020g0193 | 2 | 244 | 0.0082 | 41 | c.182 others(62): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
FBXL17_chr5_107854035_108387098 | 107980664 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0139 | 1 | 244 | 0.0041 | 41 | c.182 others(62): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
FBXL17_chr5_107854035_108387098 | 107980664 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0166 | 1 | 244 | 0.0041 | 41 | c.182 others(62): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
FBXL17_chr5_107854035_108387098 | 107980664 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | NA20752.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0037 | a0001c0001t0003g0148a0001c0001t0037g0064 | 2 | 244 | 0.0082 | 41 | c.182 others(62): Show |
FBXL17 | ENSG00000145743.18 | transcript | ENST00000542267.7 | protein_coding | 7/8 | chr5 | TogoVar |