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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXT2_chr11_44090678_44256962 | 44119169 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 149 | 0.0067 | 44 | c.743 others(61): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44119169 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 a0001c0001t0002g0198 |
2 | 150 | 0.0133 | 44 | c.743 others(61): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(37): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 | 1 | 100 | 0.0100 | 44 | c.-10 others(61): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(37): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 100 | 0.0100 | 44 | c.-10 others(61): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6321373 | C | CTCTTTCT others(37): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG02293.hp2 NA21309.hp2 |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0002c0002t0001a0005c0005t0002 | a0001c0001t0001g0237 a0002c0002t0001g0197 a0005c0005t0002g0202 |
3 | 120 | 0.0250 | 44 | c.-80 others(53): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 712 | chr6 | TogoVar | |||||||
F2_chr11_46714213_46744506 | 46730796 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01515.hp1 HG01981.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0047 a0001c0004t0001g0048 a0001c0004t0001g0049 others(1): Show |
4 | 338 | 0.0118 | 44 | c.165 others(63): Show |
F2 | ENSG00000180210.15 | transcript | ENST00000311907.10 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113105036 | A | AATATATA others(37): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0053 | 1 | 391 | 0.0026 | 44 | c.-80 others(53): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 754 | chr13 | TogoVar | |||||||
F7_chr13_113100791_113125685 | 113105038 | A | AATATATA others(37): Show |
upstream_gene_variant | MODIFIER | NA19068.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0198 | 1 | 367 | 0.0027 | 44 | c.-80 others(53): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 752 | chr13 | TogoVar | |||||||
F7_chr13_113100791_113125685 | 113105040 | A | AAAAAAAA others(37): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013 | 1 | 71 | 0.0141 | 44 | c.-80 others(53): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 750 | chr13 | TogoVar | |||||||
FAF1_chr1_50432028_50965267 | 50554390 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0026 | 1 | 15 | 0.0667 | 44 | c.126 others(65): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 13/18 | chr1 | TogoVar | |||||||
FAF1_chr1_50432028_50965267 | 50885312 | T | TCTCTCTC others(37): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0010 | 1 | 140 | 0.0071 | 44 | c.46- others(61): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 1/18 | chr1 | TogoVar | |||||||
FAF1_chr1_50432028_50965267 | 50885312 | T | TCTCTCTC others(37): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0028 a0001c0001t0003g0031 a0001c0001t0011g0029 |
3 | 142 | 0.0211 | 44 | c.46- others(61): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 1/18 | chr1 | TogoVar | |||||||
FAH_chr15_80147999_80191349 | 80148745 | A | ACAACAAC others(37): Show |
upstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 426 | 0.0023 | 44 | c.-43 others(55): Show |
FAH | ENSG00000103876.14 | transcript | ENST00000561421.6 | protein_coding | 4253 | chr15 | TogoVar | |||||||
FAM120A_chr9_93446685_93571112 | 93554120 | T | TACACACA others(37): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0210 | 1 | 17 | 0.0588 | 44 | c.227 others(63): Show |
FAM120A | ENSG00000048828.18 | transcript | ENST00000277165.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FAM13B_chr5_137932960_138038079 | 137966488 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0008 | 1 | 93 | 0.0108 | 44 | c.118 others(63): Show |
FAM13B | ENSG00000031003.11 | transcript | ENST00000689681.1 | protein_coding | 10/23 | chr5 | TogoVar | |||||||
FAM13B_chr5_137932960_138038079 | 137983213 | A | AAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 272 | 0.0037 | 44 | c.117 others(63): Show |
FAM13B | ENSG00000031003.11 | transcript | ENST00000689681.1 | protein_coding | 10/23 | chr5 | TogoVar | |||||||
FAM13C_chr10_59241133_59367549 | 59286516 | A | AATATATA others(37): Show |
intron_variant | MODIFIER | NA18994.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 a0001c0001t0002g0126 |
2 | 6 | 0.3333 | 44 | c.508 others(61): Show |
FAM13C | ENSG00000148541.13 | transcript | ENST00000618804.5 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
FAM149A_chr4_186099704_186180337 | 186136936 | A | ATCTCTCT others(37): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0026 | a0002c0026t0035 | a0002c0026t0035g0009 | 1 | 313 | 0.0032 | 44 | c.567 others(63): Show |
FAM149A | ENSG00000109794.14 | transcript | ENST00000706927.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAM149A_chr4_186099704_186180337 | 186136964 | T | TTCTCTTT others(37): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02896.hp1 |
a0008 | a0008c0013 | a0008c0013t0015 | a0008c0013t0015g0144 a0008c0013t0015g0145 |
2 | 329 | 0.0061 | 44 | c.567 others(63): Show |
FAM149A | ENSG00000109794.14 | transcript | ENST00000706927.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAM149A_chr4_186099704_186180337 | 186136992 | C | CTCTCTCT others(37): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0008 | a0008c0013 | a0008c0013t0027 | a0008c0013t0027g0305 | 1 | 317 | 0.0032 | 44 | c.567 others(63): Show |
FAM149A | ENSG00000109794.14 | transcript | ENST00000706927.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAM161A_chr2_61819848_61859060 | 61823362 | C | CATATATA others(37): Show |
downstream_gene_variant | MODIFIER | NA18977.hp1 NA18999.hp1 NA19066.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0019 | 3 | 8 | 0.3750 | 44 | c.*30 others(55): Show |
FAM161A | ENSG00000170264.13 | transcript | ENST00000404929.6 | protein_coding | 1485 | chr2 | TogoVar | |||||||
FAM163A_chr1_179738291_179821198 | 179783782 | T | TATATAAT others(37): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0174 others(1): Show |
4 | 215 | 0.0186 | 44 | c.-13 others(65): Show |
FAM163A | ENSG00000143340.7 | transcript | ENST00000341785.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FAM184A_chr6_118954763_119083664 | 118969993 | A | ATAAAATA others(37): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0110 others(1): Show |
4 | 185 | 0.0216 | 44 | c.291 others(63): Show |
FAM184A | ENSG00000111879.20 | transcript | ENST00000338891.12 | protein_coding | 14/17 | chr6 | TogoVar | |||||||
FAM184A_chr6_118954763_119083664 | 118970008 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG02080.hp2 HG03017.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 a0001c0001t0001g0245 a0001c0001t0001g0259 |
3 | 52 | 0.0577 | 44 | c.291 others(63): Show |
FAM184A | ENSG00000111879.20 | transcript | ENST00000338891.12 | protein_coding | 14/17 | chr6 | TogoVar | |||||||
FAM184A_chr6_118954763_119083664 | 118970008 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02698.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 a0001c0001t0001g0226 a0001c0001t0001g0269 |
3 | 52 | 0.0577 | 44 | c.291 others(63): Show |
FAM184A | ENSG00000111879.20 | transcript | ENST00000338891.12 | protein_coding | 14/17 | chr6 | TogoVar | |||||||
FAM184A_chr6_118954763_119083664 | 118970008 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 50 | 0.0200 | 44 | c.291 others(63): Show |
FAM184A | ENSG00000111879.20 | transcript | ENST00000338891.12 | protein_coding | 14/17 | chr6 | TogoVar | |||||||
FAM186A_chr12_50322309_50401609 | 50346215 | G | GAGAGAGA others(37): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02132.hp1 HG02148.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0042 a0001c0001t0001g0044 others(7): Show |
10 | 95 | 0.1053 | 44 | c.650 others(63): Show |
FAM186A | ENSG00000185958.10 | transcript | ENST00000327337.6 | protein_coding | 4/7 | chr12 | TogoVar | |||||||
FAM186A_chr12_50322309_50401609 | 50346215 | G | GAGAGAGA others(37): Show |
intron_variant | MODIFIER | HG03209.hp1 NA18995.hp1 |
a0001a0020 | a0001c0001a0020c0025 | a0001c0001t0001a0020c0025t0001 | a0001c0001t0001g0096 a0020c0025t0001g0244 |
2 | 87 | 0.0230 | 44 | c.650 others(63): Show |
FAM186A | ENSG00000185958.10 | transcript | ENST00000327337.6 | protein_coding | 4/7 | chr12 | TogoVar | |||||||
FAM193A_chr4_2531647_2737573 | 2617262 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02723.hp2 |
a0003a0007 | a0003c0003a0007c0007 | a0003c0003t0004a0007c0007t0003 | a0003c0003t0004g0156 a0007c0007t0003g0111 |
2 | 82 | 0.0244 | 44 | c.502 others(61): Show |
FAM193A | ENSG00000125386.16 | transcript | ENST00000637812.2 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAM193A_chr4_2531647_2737573 | 2617262 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0007 | a0007c0007 | a0007c0007t0003 | a0007c0007t0003g0108 | 1 | 81 | 0.0123 | 44 | c.502 others(61): 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(37): Show |
5_prime_UTR_variant | MODIFIER | HG01346.hp2 HG02027.hp1 |
a0001 | a0001c0001 | a0001c0001t0053a0001c0001t0054 | a0001c0001t0053g0251 a0001c0001t0054g0252 |
2 | 189 | 0.0106 | 44 | c.-32 others(51): Show |
FAM193B | ENSG00000146067.17 | transcript | ENST00000514747.6 | protein_coding | 1/9 | 32 | chr5 | TogoVar | ||||||
FANCD2_chr3_10021437_10106932 | 10069493 | C | CTCCCCCT others(37): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02622.hp1 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0156 a0003c0004t0003g0157 a0003c0004t0003g0158 others(3): Show |
6 | 165 | 0.0364 | 44 | c.249 others(63): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 26/43 | chr3 | TogoVar | |||||||
FANK1_chr10_125891564_126014592 | 125914280 | C | CATATATA others(37): Show |
intron_variant | MODIFIER | NA18998.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0365 |
2 | 210 | 0.0095 | 44 | c.13+ others(61): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98401415 | A | AACACACA others(37): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00673.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0003g0097 a0001c0001t0003g0103 a0001c0001t0004g0197 others(32): Show |
35 | 39 | 0.8974 | 44 | c.141 others(63): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98401415 | A | AACACACA others(37): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 5 | 0.2000 | 44 | c.141 others(63): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5315717 | T | TCTTTCTT others(37): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02055.hp2 HG02647.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(2): Show |
5 | 142 | 0.0352 | 44 | c.-21 others(63): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5315726 | C | CTTTCTTT others(37): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01978.hp1 HG01978.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0002g0136 others(6): Show |
9 | 148 | 0.0608 | 44 | c.-21 others(63): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5539384 | G | GTGTATAT others(37): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 a0001c0001t0002g0114 |
2 | 60 | 0.0333 | 44 | c.905 others(61): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5539384 | G | GTGTGTAT others(37): Show |
intron_variant | MODIFIER | HG01255.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 a0001c0001t0002g0125 |
2 | 60 | 0.0333 | 44 | c.905 others(61): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FASTKD1_chr2_169523508_169578865 | 169561748 | A | ATAAATTA others(37): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00639.hp1 others(94): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0010a0002c0002t0002others(3): Show | a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0168 others(87): Show |
97 | 209 | 0.4641 | 44 | c.573 others(59): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4/14 | chr2 | TogoVar | |||||||
FASTKD1_chr2_169523508_169578865 | 169561748 | A | ATAAATTA others(37): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG02080.hp2 others(20): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0003c0005others(1): Show | a0001c0001t0001a0001c0006t0001a0003c0005t0001others(1): Show | a0001c0001t0001g0124 a0001c0001t0001g0194 a0001c0001t0001g0203 others(20): Show |
23 | 135 | 0.1704 | 44 | c.573 others(60): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4/14 | chr2 | TogoVar | |||||||
FASTKD1_chr2_169523508_169578865 | 169561844 | T | TTTATTAA others(37): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0274 | 1 | 390 | 0.0026 | 44 | c.573 others(61): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 4/14 | chr2 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151534970 | A | AATATATA others(37): Show |
intron_variant | MODIFIER | HG02015.hp1 NA19068.hp2 NA19083.hp2 others(2): Show |
a0002a0007a0009others(1): Show | a0002c0008a0007c0023a0007c0045others(2): Show | a0002c0008t0012a0007c0023t0002a0007c0045t0002others(2): Show | a0002c0008t0012g0312 a0007c0023t0002g0329 a0007c0045t0002g0205 others(2): Show |
5 | 45 | 0.1111 | 44 | c.919 others(61): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151540345 | T | TTTCTCCT others(37): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0006 | a0006c0005 | a0006c0005t0002 | a0006c0005t0002g0188 | 1 | 395 | 0.0025 | 44 | c.903 others(61): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 11/23 | chr5 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92412734 | T | TACACATA others(37): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0003 | a0003c0011 | a0003c0011t0005 | a0003c0011t0005g0051 | 1 | 107 | 0.0093 | 44 | c.329 others(65): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92500768 | C | CTCCAGGC others(37): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0025 | a0001c0025t0011 | a0001c0025t0011g0077 | 1 | 116 | 0.0086 | 44 | c.329 others(65): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92753798 | G | GTGTATAT others(37): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0009 | a0009c0039 | a0009c0039t0029 | a0009c0039t0029g0106 | 1 | 59 | 0.0169 | 44 | c.367 others(63): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92753798 | G | GTGTGTGT others(37): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0032 | a0032c0082 | a0032c0082t0073 | a0032c0082t0073g0013 | 1 | 59 | 0.0169 | 44 | c.367 others(63): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92753798 | G | GTGTGTGT others(37): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02683.hp1 HG03098.hp1 others(3): Show |
a0005a0010a0026others(2): Show | a0005c0008a0005c0043a0010c0073others(3): Show | a0005c0008t0010a0005c0043t0047a0010c0073t0027others(3): Show | a0005c0008t0010g0067 a0005c0043t0047g0038 a0010c0073t0027g0050 others(3): Show |
6 | 64 | 0.0938 | 44 | c.367 others(63): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128434394 | G | GTATATAT others(37): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03579.hp1 |
a0002a0003 | a0002c0007a0003c0023 | a0002c0007t0005a0003c0023t0007 | a0002c0007t0005g0053 a0003c0023t0007g0120 |
2 | 49 | 0.0408 | 44 | c.952 others(63): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | TogoVar |