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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FGD5_chr3_14813962_14939571 | 14844211 | AAAAAAAA others(39): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01099.hp2 HG01123.hp2 others(11): Show |
a0001a0006a0022 | a0001c0001a0006c0011a0006c0033others(1): Show | a0001c0001t0001a0001c0001t0002a0006c0011t0001others(2): Show | a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0084 others(11): Show |
14 | 338 | 0.0414 | -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 | a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 others(9): Show |
12 | 316 | 0.0380 | -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 | a0001c0001t0005 | a0001c0001t0005g0076 | 1 | 348 | 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 | a0001c0001t0001g0089 a0001c0001t0003g0090 |
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 | a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0004g0051 others(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 | a0001c0001t0010 | a0001c0001t0010g0114 | 1 | 238 | 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 | a0001c0001t0074g0123 | 1 | 264 | 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 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0025 others(11): Show |
14 | 46 | 0.3043 | -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 | a0001c0001t0002g0015 a0002c0004t0005g0014 |
2 | 40 | 0.0500 | -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 | 136 | 0.0074 | -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 | a0009 | a0009c0006 | a0009c0006t0001 | a0009c0006t0001g0024 | 1 | 304 | 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 | 237 | 0.0042 | -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 | a0001c0001t0001g0049 a0001c0019t0001g0047 |
2 | 216 | 0.0093 | -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 | a0001c0007t0001g0077 a0001c0007t0001g0144 a0001c0007t0001g0145 others(1): Show |
4 | 402 | 0.0100 | -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 | a0001c0001t0001g0136 | 1 | 322 | 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 | 414 | 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 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0000 | 1 | 458 | 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 | a0001c0001t0001a0001c0002t0001a0001c0002t0034others(2): Show | a0001c0001t0001g0192 a0001c0002t0001g0160 a0001c0002t0001g0161 others(3): Show |
6 | 255 | 0.0235 | -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 | a0001c0001t0071 | a0001c0001t0071g0063 | 1 | 227 | 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 | a0001c0001t0003a0001c0001t0013a0001c0001t0025others(1): Show | a0001c0001t0003g0190 a0001c0001t0013g0173 a0001c0001t0025g0086 others(1): Show |
4 | 226 | 0.0177 | -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 | a0001c0001t0015 | a0001c0001t0015g0162 | 1 | 227 | 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 | a0001c0001t0005a0001c0001t0057a0001c0001t0062others(1): Show | a0001c0001t0005g0103 a0001c0001t0057g0082 a0001c0001t0062g0161 others(1): Show |
4 | 225 | 0.0178 | -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 | a0001c0001t0001a0001c0001t0022a0001c0001t0040 | a0001c0001t0001g0225 a0001c0001t0022g0168 a0001c0001t0040g0226 |
3 | 218 | 0.0138 | -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 | a0001c0001t0080 | a0001c0001t0080g0155 | 1 | 211 | 0.0047 | -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 | a0001c0001t0003 | a0001c0001t0003g0175 | 1 | 207 | 0.0048 | -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 | a0001c0001t0003 | a0001c0001t0003g0044 | 1 | 220 | 0.0045 | -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 | 228 | 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 |
a0004a0010a0020others(11): Show | a0004c0089a0010c0020a0020c0011others(11): Show | a0004c0089t0026a0010c0020t0004a0020c0011t0028others(12): Show | a0004c0089t0026g0152 a0010c0020t0004g0162 a0020c0011t0028g0163 others(12): Show |
15 | 176 | 0.0852 | -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 |
a0001a0004a0049 | a0001c0001a0001c0013a0004c0007others(1): Show | a0001c0001t0027a0001c0013t0019a0004c0007t0018others(1): Show | a0001c0001t0027g0110 a0001c0013t0019g0252 a0004c0007t0018g0039 others(1): Show |
4 | 259 | 0.0154 | -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 | a0001c0001t0008 | a0001c0001t0008g0162 | 1 | 215 | 0.0047 | -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 | a0001c0001t0001g0188 a0001c0001t0002g0073 a0001c0001t0002g0074 |
3 | 311 | 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 | 287 | 0.0035 | -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 | a0001c0002t0001g0318 | 1 | 367 | 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 | a0001c0002t0001g0296 a0002c0003t0001g0277 a0002c0003t0001g0291 |
3 | 258 | 0.0116 | -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 | a0001c0002t0001g0213 a0002c0003t0001g0333 |
2 | 298 | 0.0067 | -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 | a0001c0001t0003g0003 a0001c0001t0003g0088 a0001c0001t0003g0089 others(33): Show |
37 | 302 | 0.1225 | -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 | a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0015 others(71): Show |
76 | 365 | 0.2082 | -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 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(27): Show | a0001c0001t0003g0047 a0001c0001t0003g0059 a0001c0001t0003g0068 others(107): Show |
110 | 231 | 0.4762 | -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 | a0001c0001t0003a0001c0003t0002 | a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0003t0002g0019 |
3 | 202 | 0.0149 | -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 | a0001c0001t0001g0105 a0001c0001t0002g0021 a0001c0001t0005g0152 others(1): Show |
4 | 199 | 0.0201 | -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 | a0001c0001t0008g0079 | 1 | 190 | 0.0053 | -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 | a0001c0001t0017a0001c0001t0035 | a0001c0001t0017g0080 a0001c0001t0035g0204 |
2 | 199 | 0.0101 | -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 | a0001c0004t0001g0075 | 1 | 305 | 0.0033 | -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 | a0001c0002t0001g0055 a0001c0002t0001g0099 a0001c0002t0001g0106 others(123): Show |
127 | 402 | 0.3159 | -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 | a0001c0001t0001g0009 a0001c0001t0001g0188 a0001c0001t0001g0230 others(49): Show |
52 | 223 | 0.2332 | -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 | 207 | 0.0048 | -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 | a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0027 others(2): Show |
5 | 68 | 0.0735 | -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 | 176 | 0.0057 | -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 | 182 | 0.0055 | -46 | c.*17 others(57): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1065 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132195385 | AAGTGAAG others(39): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp1 HG02109.hp1 HG02717.hp2 others(5): Show |
a0001 | a0001c0014a0001c0019a0001c0026others(2): Show | a0001c0014t0003a0001c0019t0003a0001c0026t0014others(2): Show | a0001c0014t0003g0074 a0001c0014t0003g0146 a0001c0014t0003g0153 others(5): Show |
8 | 182 | 0.0440 | -46 | c.*16 others(57): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 986 | chr12 | TogoVar |