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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EYA4_chr6_133236357_133537128 | 133491951 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0013 | 1 | 264 | 0.0038 | 11 | c.119 others(30): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYS_chr6_63714980_65712226 | 64274481 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02809.hp2 others(2): Show |
a0005a0009a0011others(2): Show | a0005c0010a0009c0006a0011c0001others(2): Show | a0005c0010t0001a0009c0006t0001a0011c0001t0001others(2): Show | a0005c0010t0001g0015a0009c0006t0001g0004a0011c0001t0001g0013others(2): Show | 5 | 24 | 0.2083 | 11 | c.619 others(32): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64295320 | C | CTTAAAGT others(4): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03195.hp2 |
a0019a0020 | a0019c0023a0020c0015 | a0019c0023t0001a0020c0015t0002 | a0019c0023t0001g0010a0020c0015t0002g0023 | 2 | 24 | 0.0833 | 11 | c.619 others(32): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64311979 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0015 | 1 | 24 | 0.0417 | 11 | c.607 others(30): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 29/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64506908 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02896.hp2 HG03195.hp1 |
a0002a0007a0018 | a0002c0008a0007c0018a0018c0016 | a0002c0008t0002a0007c0018t0001a0018c0016t0001 | a0002c0008t0002g0020a0007c0018t0001g0007a0018c0016t0001g0003 | 3 | 24 | 0.1250 | 11 | c.564 others(32): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 26/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64692977 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02970.hp2 HG03098.hp1 |
a0006a0014a0021 | a0006c0022a0014c0004a0021c0024 | a0006c0022t0001a0014c0004t0002a0021c0024t0001 | a0006c0022t0001g0011a0014c0004t0002g0024a0021c0024t0001g0001 | 3 | 24 | 0.1250 | 11 | c.344 others(32): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64703429 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0021 | a0002c0021t0001 | a0002c0021t0001g0008 | 1 | 24 | 0.0417 | 11 | c.344 others(32): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64864385 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0013 | a0013c0020 | a0013c0020t0002 | a0013c0020t0002g0022 | 1 | 24 | 0.0417 | 11 | c.299 others(32): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 19/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65131444 | A | ATTTTTTG others(4): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0012 | 1 | 24 | 0.0417 | 11 | c.202 others(32): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65461773 | T | TAAACAAT others(4): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0011 | a0011c0001 | a0011c0001t0001 | a0011c0001t0001g0013 | 1 | 24 | 0.0417 | 11 | c.862 others(30): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 5/42 | chr6 | TogoVar | ||||||
EZH2_chr7_148802383_148889291 | 148839106 | A | AAGGAAGG others(4): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0331 | 1 | 380 | 0.0026 | 11 | c.247 others(28): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 3/19 | chr7 | TogoVar | ||||||
EZH2_chr7_148802383_148889291 | 148883356 | C | CAGAGCAG others(4): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 380 | 0.0026 | 11 | c.-8+ others(24): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
F10_chr13_113117799_113154529 | 113148345 | A | AAATATAT others(4): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02895.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0279a0002c0003t0001g0367 | 2 | 412 | 0.0049 | 11 | c.866 others(26): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
F11R_chr1_160990211_161026152 | 161010441 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG00735.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0016a0001c0001t0001g0040others(19): Show | 27 | 392 | 0.0689 | 11 | c.65- others(26): Show |
F11R | ENSG00000158769.19 | transcript | ENST00000368026.11 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
F2RL3_chr19_16883999_16897606 | 16888396 | G | GTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01255.hp1 HG02004.hp2 others(33): Show |
a0002a0003 | a0002c0002a0002c0003a0002c0004others(1): Show | a0002c0002t0002a0002c0002t0005a0002c0002t0013others(3): Show | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0005g0003others(4): Show | 36 | 400 | 0.0900 | 11 | c.-79 others(20): Show |
F2RL3 | ENSG00000127533.4 | transcript | ENST00000248076.4 | protein_coding | 602 | chr19 | TogoVar | ||||||
F5_chr1_169506951_169591481 | 169556425 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02293.hp2 HG03098.hp2 others(2): Show |
a0002a0003a0004others(2): Show | a0002c0019a0003c0018a0004c0040others(2): Show | a0002c0019t0001a0003c0018t0003a0004c0040t0003others(2): Show | a0002c0019t0001g0053a0003c0018t0003g0048a0004c0040t0003g0289others(2): Show | 5 | 306 | 0.0163 | 11 | c.952 others(26): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 6/24 | chr1 | TogoVar | ||||||
F5_chr1_169506951_169591481 | 169587561 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0007 | a0007c0013 | a0007c0013t0002 | a0007c0013t0002g0041 | 1 | 306 | 0.0033 | 11 | c.-11 others(22): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 1081 | chr1 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113106565 | A | ATGGAAAG others(4): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 400 | 0.0025 | 11 | c.64+ others(24): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
F7_chr13_113100791_113125685 | 113108382 | T | TGTCCCAG others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(229): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(139): Show | 232 | 400 | 0.5800 | 11 | c.65- others(26): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
F8A1_chrX_154881355_154893061 | 154888380 | A | ATTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 325 | 0.0031 | 11 | c.*89 others(20): Show |
F8A1 | ENSG00000288722.1 | transcript | ENST00000610495.2 | protein_coding | 320 | chrX | TogoVar | ||||||
F8A2_chrX_155377095_155388801 | 155384120 | A | ATTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01496.hp2 others(3): Show |
a0001a0011 | a0001c0001a0011c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0006g0000others(1): Show | 6 | 267 | 0.0225 | 11 | c.*89 others(20): Show |
F8A2 | ENSG00000288709.1 | transcript | ENST00000369505.5 | protein_coding | 320 | chrX | TogoVar | ||||||
F8A3_chrX_155451914_155463620 | 155456569 | G | GAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG02040.hp1 HG02083.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000a0001c0001t0002g0000 | 14 | 270 | 0.0519 | 11 | c.*91 others(20): Show |
F8A3 | ENSG00000277150.2 | transcript | ENST00000622749.2 | protein_coding | 344 | chrX | TogoVar | ||||||
F8A3_chrX_155451914_155463620 | 155460593 | T | TGGAATTA others(4): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 270 | 0.0037 | 11 | c.-19 others(22): Show |
F8A3 | ENSG00000277150.2 | transcript | ENST00000622749.2 | protein_coding | 1974 | chrX | TogoVar | ||||||
F8_chrX_154830792_155027723 | 154888380 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 233 | 0.0043 | 11 | c.642 others(30): Show |
F8 | ENSG00000185010.15 | transcript | ENST00000360256.9 | protein_coding | 22/25 | chrX | TogoVar | ||||||
F8_chrX_154830792_155027723 | 154972707 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0010 | a0002c0010t0005 | a0002c0010t0005g0095 | 1 | 233 | 0.0043 | 11 | c.788 others(28): Show |
F8 | ENSG00000185010.15 | transcript | ENST00000360256.9 | protein_coding | 6/25 | chrX | TogoVar | ||||||
F8_chrX_154830792_155027723 | 155019826 | T | TATTTGGT others(4): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0220 | 1 | 233 | 0.0043 | 11 | c.143 others(28): Show |
F8 | ENSG00000185010.15 | transcript | ENST00000360256.9 | protein_coding | 1/25 | chrX | TogoVar | ||||||
FAAH2_chrX_57281706_57494193 | 57288338 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02886.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0271a0001c0003t0001g0267a0001c0003t0001g0268others(2): Show | 5 | 282 | 0.0177 | 11 | c.192 others(28): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FAAH2_chrX_57281706_57494193 | 57306864 | C | CACACTAT others(4): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01975.hp2 HG02004.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0167a0001c0002t0002g0195a0001c0002t0002g0196 | 3 | 282 | 0.0106 | 11 | c.276 others(28): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FAAH_chr1_46389317_46418845 | 46418721 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0137 | 1 | 370 | 0.0027 | 11 | c.*51 others(22): Show |
FAAH | ENSG00000117480.16 | transcript | ENST00000243167.9 | protein_coding | 4877 | chr1 | TogoVar | ||||||
FABP6_chr5_160224506_160243716 | 160237508 | A | ATGAATAT others(4): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 476 | 0.0021 | 11 | c.334 others(28): Show |
FABP6 | ENSG00000170231.16 | transcript | ENST00000402432.4 | protein_coding | 3/3 | chr5 | TogoVar | ||||||
FABP7_chr6_122774716_122789074 | 122774922 | A | AACAAATA others(4): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 480 | 0.0042 | 11 | c.-48 others(22): Show |
FABP7 | ENSG00000164434.12 | transcript | ENST00000368444.8 | protein_coding | 4793 | chr6 | TogoVar | ||||||
FADS2_chr11_61823300_61872354 | 61824394 | A | AGAGAGAG others(4): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213 | 1 | 280 | 0.0036 | 11 | c.-39 others(22): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 3905 | chr11 | TogoVar | ||||||
FADS2_chr11_61823300_61872354 | 61824476 | G | GAGAAGAA others(4): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0052a0001c0001t0003g0027 | 2 | 280 | 0.0071 | 11 | c.-39 others(22): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 3823 | chr11 | TogoVar | ||||||
FADS2_chr11_61823300_61872354 | 61824484 | G | GAAAGAAA others(4): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 280 | 0.0036 | 11 | c.-39 others(22): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 3815 | chr11 | TogoVar | ||||||
FADS2_chr11_61823300_61872354 | 61824502 | G | GAAAGAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00621.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0037others(16): Show | 19 | 280 | 0.0679 | 11 | c.-38 others(22): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 3797 | chr11 | TogoVar | ||||||
FADS2_chr11_61823300_61872354 | 61826445 | A | ATCACTCC others(4): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 280 | 0.0036 | 11 | c.-19 others(22): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 1854 | chr11 | TogoVar | ||||||
FADS2_chr11_61823300_61872354 | 61853276 | T | TCCCTCCC others(4): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0086others(1): Show | 4 | 280 | 0.0143 | 11 | c.745 others(28): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 5/11 | chr11 | TogoVar | ||||||
FADS2_chr11_61823300_61872354 | 61861353 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03239.hp2 HG04184.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0173a0001c0001t0001g0174 | 3 | 280 | 0.0107 | 11 | c.883 others(28): Show |
FADS2 | ENSG00000134824.14 | transcript | ENST00000278840.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FADS6_chr17_74872302_74898633 | 74876700 | A | AGCAGGAG others(4): Show |
downstream_gene_variant | MODIFIER | NA18965.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0078 | 1 | 440 | 0.0023 | 11 | c.*16 others(22): Show |
FADS6 | ENSG00000172782.13 | transcript | ENST00000612771.5 | protein_coding | 601 | chr17 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50457724 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03139.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0012 | a0001c0001t0010g0182a0001c0001t0010g0184a0001c0001t0012g0002others(2): Show | 5 | 190 | 0.0263 | 11 | c.187 others(32): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 18/18 | chr1 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50490540 | C | CAAATACA others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(186): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0055others(186): Show | 189 | 190 | 0.9947 | 11 | c.165 others(26): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 17/18 | chr1 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50746293 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0008 | 1 | 190 | 0.0053 | 11 | c.368 others(28): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 4/18 | chr1 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50836170 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG01070.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0016others(2): Show | a0001c0001t0003g0017a0001c0001t0003g0018a0001c0001t0003g0021others(21): Show | 24 | 190 | 0.1263 | 11 | c.114 others(30): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 2/18 | chr1 | TogoVar | ||||||
FAF1_chr1_50432028_50965267 | 50836170 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG00733.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0145a0001c0001t0001g0146a0001c0001t0002g0015others(26): Show | 29 | 190 | 0.1526 | 11 | c.114 others(30): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 2/18 | chr1 | TogoVar | ||||||
FAH_chr15_80147999_80191349 | 80153171 | G | GGGGAGTG others(4): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01106.hp2 HG02451.hp2 others(5): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0027a0001c0001t0001g0278a0001c0001t0001g0279others(3): Show | 8 | 428 | 0.0187 | 11 | c.81+ others(22): Show |
FAH | ENSG00000103876.14 | transcript | ENST00000561421.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
FAIM_chr3_138603771_138638376 | 138609601 | T | TCTCTCTC others(4): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02132.hp2 HG02165.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0036a0001c0001t0001g0043a0001c0001t0001g0065others(7): Show | 10 | 368 | 0.0272 | 11 | c.-17 others(26): Show |
FAIM | ENSG00000158234.13 | transcript | ENST00000360570.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FAIM_chr3_138603771_138638376 | 138609641 | C | CTCTCTCT others(4): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 368 | 0.0027 | 11 | c.-17 others(26): Show |
FAIM | ENSG00000158234.13 | transcript | ENST00000360570.8 | protein_coding | 1/5 | chr3 | TogoVar | ||||||
FAM104A_chr17_73202365_73237394 | 73207092 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG01169.hp2 HG01884.hp1 HG02040.hp1 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0003 | a0001c0001t0011a0001c0002t0002a0003c0003t0002 | a0001c0001t0011g0219a0001c0002t0002g0028a0001c0002t0002g0035others(17): Show | 20 | 400 | 0.0500 | 11 | c.*24 others(22): Show |
FAM104A | ENSG00000133193.13 | transcript | ENST00000405159.8 | protein_coding | 272 | chr17 | TogoVar | ||||||
FAM107B_chr10_14513557_14779897 | 14630278 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 272 | 0.0037 | 11 | c.469 others(30): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
FAM110D_chr1_26154079_26168962 | 26157055 | T | TTTCTTTT others(4): Show |
upstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 412 | 0.0024 | 11 | c.-21 others(22): Show |
FAM110D | ENSG00000197245.6 | transcript | ENST00000374268.5 | protein_coding | 2023 | chr1 | TogoVar |