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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FER_chr5_108742897_109201841 | 108992637 | ACCCCACC others(39): Show |
A | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0015 | a0001c0015t0044 | a0001c0015t0044g0128 | 1 | 138 | 0.0073 | -46 | c.165 others(67): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FGD5_chr3_14813962_14939571 | 14844211 | AAAAAAAA others(39): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01099.hp2 HG01123.hp2 others(11): Show |
a0001a0006a0018 | a0001c0001a0006c0011a0006c0033others(1): Show | a0001c0001t0001a0001c0001t0002a0006c0011t0001others(2): Show | a0001c0001t0001g0056a0001c0001t0001g0060a0001c0001t0001g0088others(11): Show | 14 | 342 | 0.0409 | -46 | c.252 others(67): Show |
FGD5 | ENSG00000154783.12 | transcript | ENST00000285046.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FGD5_chr3_14813962_14939571 | 14844213 | AAAAAATA others(39): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG02895.hp2 HG02896.hp2 others(9): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0003a0005c0004t0001 | a0001c0001t0003g0057a0001c0001t0003g0058a0001c0001t0003g0059others(9): Show | 12 | 342 | 0.0351 | -46 | c.252 others(67): Show |
FGD5 | ENSG00000154783.12 | transcript | ENST00000285046.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FGF10_chr5_44295247_44394420 | 44345313 | AACAAATA others(39): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0061 | 1 | 350 | 0.0029 | -46 | c.326 others(65): Show |
FGF10 | ENSG00000070193.5 | transcript | ENST00000264664.5 | protein_coding | 1/2 | chr5 | TogoVar | ||||||
FGF12_chr3_192134390_192732541 | 192711222 | TCCCGTCC others(39): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0089a0001c0001t0003g0090 | 2 | 90 | 0.0222 | -46 | c.13+ others(63): Show |
FGF12 | ENSG00000114279.15 | transcript | ENST00000445105.7 | protein_coding | 2/5 | chr3 | TogoVar | ||||||
FGF12_chr3_192134390_192732541 | 192711259 | GGCCAGCC others(39): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG02132.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0030a0001c0001t0001g0037a0001c0001t0004g0051others(14): Show | 17 | 90 | 0.1889 | -46 | c.13+ others(63): Show |
FGF12 | ENSG00000114279.15 | transcript | ENST00000445105.7 | protein_coding | 2/5 | chr3 | TogoVar | ||||||
FGF13_chrX_138609727_138716717 | 138696819 | GGCTTTTC others(39): Show |
G | intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0081 | 1 | 240 | 0.0042 | -46 | c.402 others(63): Show |
FGF13 | ENSG00000129682.16 | transcript | ENST00000315930.11 | protein_coding | 3/4 | chrX | TogoVar | ||||||
FGF14_chr13_101705804_101921945 | 101850493 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0122 | 1 | 266 | 0.0038 | -46 | c.408 others(65): Show |
FGF14 | ENSG00000102466.17 | transcript | ENST00000376143.5 | protein_coding | 3/4 | chr13 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60131036 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG02145.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0025others(11): Show | 14 | 46 | 0.3044 | -46 | c.104 others(67): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 5/9 | chr3 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60441744 | TTATATAT others(39): Show |
T | intron_variant | MODIFIER | HG02630.hp1 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0005 | a0001c0001t0002g0015a0002c0004t0005g0014 | 2 | 46 | 0.0435 | -46 | c.103 others(65): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 5/9 | chr3 | TogoVar | ||||||
FILIP1L_chr3_99823811_100119501 | 99983446 | GTATATAT others(39): Show |
G | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0251 | 1 | 258 | 0.0039 | -46 | c.-10 others(65): Show |
FILIP1L | ENSG00000168386.19 | transcript | ENST00000477258.2 | protein_coding | 1/5 | chr3 | TogoVar | ||||||
FILIP1_chr6_75303090_75498800 | 75372696 | AGAAAGAA others(39): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0004 | 1 | 306 | 0.0033 | -46 | c.277 others(63): Show |
FILIP1 | ENSG00000118407.15 | transcript | ENST00000237172.12 | protein_coding | 2/5 | chr6 | TogoVar | ||||||
FILIP1_chr6_75303090_75498800 | 75372722 | GAGAAAGA others(39): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 306 | 0.0033 | -46 | c.277 others(63): Show |
FILIP1 | ENSG00000118407.15 | transcript | ENST00000237172.12 | protein_coding | 2/5 | chr6 | TogoVar | ||||||
FLT1_chr13_28295346_28500128 | 28453027 | CTTTCCTT others(39): Show |
C | intron_variant | MODIFIER | HG02145.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0019t0001 | a0001c0001t0001g0048a0001c0019t0001g0046 | 2 | 228 | 0.0088 | -46 | c.388 others(65): Show |
FLT1 | ENSG00000102755.13 | transcript | ENST00000282397.9 | protein_coding | 3/29 | chr13 | TogoVar | ||||||
FMO3_chr1_171085905_171122819 | 171096018 | ATATATTA others(39): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG03195.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0080a0001c0007t0001g0153a0001c0007t0001g0154others(1): Show | 4 | 404 | 0.0099 | -46 | c.132 others(63): Show |
FMO3 | ENSG00000007933.13 | transcript | ENST00000367755.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FNBP1L_chr1_93443118_93559661 | 93457259 | ATGGTAAG others(39): Show |
A | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 324 | 0.0031 | -46 | c.24+ others(61): Show |
FNBP1L | ENSG00000137942.18 | transcript | ENST00000271234.13 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FNDC11_chr20_63549159_63561695 | 63549192 | CCGCCCTC others(39): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 416 | 0.0048 | -46 | c.-50 others(57): Show |
FNDC11 | ENSG00000125531.7 | transcript | ENST00000370097.2 | protein_coding | 4966 | chr20 | TogoVar | ||||||
FOXD3_chr1_63317567_63330128 | 63323392 | GAGGGCGG others(39): Show |
G | frameshift_variant | HIGH | NA19005.hp1 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0000 | 1 | 460 | 0.0022 | -46 | c.335 others(53): Show |
p.Glu others(5): Show |
FOXD3 | ENSG00000187140.6 | transcript | ENST00000371116.4 | protein_coding | 1/1 | 827/2562 | 335/1437 | 112/478 | chr1 | TogoVar | ||
FOXK1_chr7_4677295_4776442 | 4705960 | GTATATAT others(39): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp2 HG01074.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(3): Show | a0001c0001t0001g0192a0001c0002t0001g0157a0001c0002t0005g0158others(3): Show | 6 | 294 | 0.0204 | -46 | c.560 others(65): Show |
FOXK1 | ENSG00000164916.11 | transcript | ENST00000328914.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
FOXN3_chr14_89151177_89422233 | 89288692 | CTCTCTCT others(39): Show |
C | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0063 | 1 | 230 | 0.0044 | -46 | c.681 others(63): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89288694 | CTCTCTCT others(39): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0014a0001c0001t0028others(1): Show | a0001c0001t0002g0190a0001c0001t0014g0173a0001c0001t0028g0086others(1): Show | 4 | 230 | 0.0174 | -46 | c.681 others(63): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89288696 | CTCTCTCT others(39): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0162 | 1 | 230 | 0.0044 | -46 | c.681 others(63): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89288700 | CTCTCTCT others(39): Show |
C | intron_variant | MODIFIER | HG02135.hp1 HG02559.hp1 HG02615.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0058a0001c0001t0061others(1): Show | a0001c0001t0004g0103a0001c0001t0058g0082a0001c0001t0061g0161others(1): Show | 4 | 230 | 0.0174 | -46 | c.681 others(63): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89288702 | CTCTCTCT others(39): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023a0001c0001t0072 | a0001c0001t0001g0225a0001c0001t0023g0168a0001c0001t0072g0226 | 3 | 230 | 0.0130 | -46 | c.681 others(63): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89288704 | CTCTCTCT others(39): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0155 | 1 | 230 | 0.0044 | -46 | c.681 others(63): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89288706 | CTCTCTCT others(39): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 230 | 0.0044 | -46 | c.681 others(63): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89288708 | CTCTCTCT others(39): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 230 | 0.0044 | -46 | c.681 others(63): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361397 | CAGCACCA others(39): Show |
C | intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0078 | 1 | 230 | 0.0044 | -46 | c.544 others(65): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FRAS1_chr4_78052323_78549269 | 78140667 | ATGTGTAT others(39): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02486.hp2 others(12): Show |
a0004a0009a0018others(11): Show | a0004c0089a0009c0020a0018c0090others(11): Show | a0004c0089t0026a0009c0020t0004a0018c0090t0033others(12): Show | a0004c0089t0026g0151a0009c0020t0004g0164a0018c0090t0033g0163others(12): Show | 15 | 178 | 0.0843 | -46 | c.108 others(65): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 2/73 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
FREM2_chr13_38682077_38892131 | 38813529 | CTCTCTCT others(39): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02922.hp1 HG03195.hp2 others(1): Show |
a0001a0004a0055 | a0001c0001a0001c0012a0004c0007others(1): Show | a0001c0001t0027a0001c0012t0019a0004c0007t0018others(1): Show | a0001c0001t0027g0110a0001c0012t0019g0252a0004c0007t0018g0039others(1): Show | 4 | 262 | 0.0153 | -46 | c.601 others(67): Show |
FREM2 | ENSG00000150893.11 | transcript | ENST00000280481.9 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FRMD4B_chr3_69163782_69391088 | 69267612 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0161 | 1 | 224 | 0.0045 | -46 | c.502 others(65): Show |
FRMD4B | ENSG00000114541.15 | transcript | ENST00000398540.8 | protein_coding | 5/22 | chr3 | TogoVar | ||||||
FUNDC1_chrX_44518639_44547859 | 44531269 | CACACACA others(39): Show |
C | intron_variant | MODIFIER | NA18981.hp1 NA18994.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0220a0001c0001t0002g0072a0001c0001t0002g0076 | 3 | 313 | 0.0096 | -46 | c.262 others(63): Show |
FUNDC1 | ENSG00000069509.6 | transcript | ENST00000378045.5 | protein_coding | 3/4 | chrX | TogoVar | ||||||
FUT8_chr14_65407730_65749121 | 65611184 | TACACACA others(39): Show |
T | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0362 | 1 | 374 | 0.0027 | -46 | c.204 others(63): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FUT8_chr14_65407730_65749121 | 65611205 | GCGCGCGC others(39): Show |
G | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0315 | 1 | 374 | 0.0027 | -46 | c.204 others(63): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FUT8_chr14_65407730_65749121 | 65611209 | GCGCGCGC others(39): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG03492.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0296a0002c0003t0001g0277a0002c0003t0001g0291 | 3 | 374 | 0.0080 | -46 | c.204 others(63): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FUT8_chr14_65407730_65749121 | 65611211 | GCGCGCGC others(39): Show |
G | intron_variant | MODIFIER | HG02698.hp2 HG03491.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0213a0002c0003t0001g0334 | 2 | 374 | 0.0054 | -46 | c.204 others(63): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GABPB1_chr15_50270389_50360198 | 50337063 | GTATATGT others(39): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG01070.hp1 HG01074.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0085a0001c0001t0003g0086a0001c0001t0003g0088others(34): Show | 37 | 366 | 0.1011 | -46 | c.-1+ others(63): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | ||||||
GABPB1_chr15_50270389_50360198 | 50337071 | GTGTGTAT others(39): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0013others(1): Show | a0001c0001t0002g0001a0001c0001t0002g0011a0001c0001t0002g0012others(71): Show | 76 | 366 | 0.2077 | -46 | c.-1+ others(63): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46273468 | CATATATA others(39): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(107): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(83): Show | a0001c0001t0002g0089a0001c0001t0002g0090a0001c0001t0002g0094others(107): Show | 110 | 258 | 0.4264 | -46 | c.857 others(65): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 8/9 | chr4 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26764159 | AAAAAAAA others(39): Show |
A | intron_variant | MODIFIER | HG03453.hp1 NA18522.hp2 NA20300.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0028a0001c0003t0002 | a0001c0001t0003g0019a0001c0001t0028g0017a0001c0003t0002g0018 | 3 | 204 | 0.0147 | -46 | c.240 others(63): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26764161 | AAAAAAAA others(39): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01099.hp2 HG02258.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0090a0001c0001t0002g0021a0001c0001t0005g0152others(1): Show | 4 | 204 | 0.0196 | -46 | c.240 others(63): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26764165 | AAAAAAAA others(39): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0081 | 1 | 204 | 0.0049 | -46 | c.240 others(63): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26764167 | AAAAAAAA others(39): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0036 | a0001c0001t0017g0082a0001c0001t0036g0204 | 2 | 204 | 0.0098 | -46 | c.240 others(63): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GAK_chr4_844277_937316 | 856601 | GCTGCTCA others(39): Show |
G | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0084 | 1 | 390 | 0.0026 | -46 | c.328 others(65): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 24/27 | chr4 | TogoVar | ||||||
GALNS_chr16_88808734_88861947 | 88825534 | CGGGGCTG others(39): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(124): Show |
a0001a0006a0007others(4): Show | a0001c0002a0001c0011a0001c0018others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0008others(10): Show | a0001c0002t0001g0030a0001c0002t0001g0070a0001c0002t0001g0102others(124): Show | 127 | 404 | 0.3144 | -46 | c.114 others(63): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154371527 | GACACACC others(39): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00642.hp2 others(49): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0009a0001c0001t0001g0188a0001c0001t0001g0230others(49): Show | 52 | 236 | 0.2203 | -46 | c.569 others(63): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154110310 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0190 | 1 | 214 | 0.0047 | -46 | c.143 others(65): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71336001 | CTTCTTCC others(39): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG02451.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0006a0001c0009t0010 | a0001c0001t0002g0019a0001c0001t0002g0021a0001c0001t0002g0027others(2): Show | 5 | 76 | 0.0658 | -46 | c.422 others(61): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132192703 | GTCCTCCT others(39): Show |
G | downstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0035 | a0001c0035t0009 | a0001c0035t0009g0140 | 1 | 183 | 0.0055 | -46 | c.*43 others(57): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 3668 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132195306 | ACAGCCCC others(39): Show |
A | downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 183 | 0.0055 | -46 | c.*17 others(57): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1065 | chr12 | TogoVar |