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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FLNB_chr3_58003422_58177251 | 58100373 | A | AAAAAATA others(39): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0003 | a0003c0009 | a0003c0009t0004 | a0003c0009t0004g0026 | 1 | 180 | 0.0056 | 46 | c.134 others(65): Show |
FLNB | ENSG00000136068.16 | transcript | ENST00000295956.9 | protein_coding | 8/45 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FLT1_chr13_28295346_28500128 | 28412329 | C | CTTTCTTT others(39): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02027.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0007 | a0001c0001t0001g0085a0001c0001t0001g0169a0001c0002t0007g0125 | 3 | 228 | 0.0132 | 46 | c.143 others(65): Show |
FLT1 | ENSG00000102755.13 | transcript | ENST00000282397.9 | protein_coding | 10/29 | chr13 | TogoVar | ||||||
FLT1_chr13_28295346_28500128 | 28412330 | T | TTTCTTTC others(39): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02165.hp1 HG04184.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0023a0001c0002t0044others(1): Show | a0001c0001t0001g0176a0001c0001t0001g0179a0001c0001t0023g0082others(2): Show | 5 | 228 | 0.0219 | 46 | c.143 others(65): Show |
FLT1 | ENSG00000102755.13 | transcript | ENST00000282397.9 | protein_coding | 10/29 | chr13 | TogoVar | ||||||
FLT1_chr13_28295346_28500128 | 28412330 | T | TTTCTTTC others(39): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0172 | 2 | 228 | 0.0088 | 46 | c.143 others(65): Show |
FLT1 | ENSG00000102755.13 | transcript | ENST00000282397.9 | protein_coding | 10/29 | chr13 | TogoVar | ||||||
FLT4_chr5_180596506_180654600 | 180615442 | G | GCCCCGCT others(39): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 388 | 0.0026 | 46 | c.321 others(63): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 23/29 | chr5 | TogoVar | ||||||
FLT4_chr5_180596506_180654600 | 180615483 | T | TCTTTCGG others(39): Show |
intron_variant | MODIFIER | HG01257.hp2 HG03927.hp1 NA20905.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0006 | a0001c0001t0001g0319a0002c0003t0006g0334a0002c0003t0006g0335 | 3 | 388 | 0.0077 | 46 | c.321 others(63): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 23/29 | chr5 | TogoVar | ||||||
FMN1_chr15_32760544_33199714 | 32950020 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0085 | 1 | 196 | 0.0051 | 46 | c.313 others(67): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 9/20 | chr15 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240241825 | C | CTTTTTTT others(39): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0026 | a0026c0042 | a0026c0042t0001 | a0026c0042t0001g0004 | 1 | 174 | 0.0058 | 46 | c.406 others(67): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FN3KRP_chr17_82711706_82733013 | 82730039 | C | CGGACATC others(39): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00609.hp2 others(81): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0012others(44): Show | 84 | 426 | 0.1972 | 46 | c.*28 others(57): Show |
FN3KRP | ENSG00000141560.15 | transcript | ENST00000269373.11 | protein_coding | 2027 | chr17 | TogoVar | ||||||
FN3KRP_chr17_82711706_82733013 | 82730039 | C | CGGACATC others(39): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02145.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 5 | 426 | 0.0117 | 46 | c.*28 others(57): Show |
FN3KRP | ENSG00000141560.15 | transcript | ENST00000269373.11 | protein_coding | 2027 | chr17 | TogoVar | ||||||
FN3KRP_chr17_82711706_82733013 | 82730076 | C | CTGGGACC others(39): Show |
downstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 426 | 0.0024 | 46 | c.*29 others(57): Show |
FN3KRP | ENSG00000141560.15 | transcript | ENST00000269373.11 | protein_coding | 2064 | chr17 | TogoVar | ||||||
FN3KRP_chr17_82711706_82733013 | 82730101 | G | ACTCAGCA others(39): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(331): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0009others(124): Show | 334 | 426 | 0.7840 | 46 | c.*29 others(57): Show |
FN3KRP | ENSG00000141560.15 | transcript | ENST00000269373.11 | protein_coding | 2088 | chr17 | TogoVar | ||||||
FNIP2_chr4_158764026_158913050 | 158875515 | G | GATATATA others(39): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0028 | 1 | 254 | 0.0039 | 46 | c.294 others(65): Show |
FNIP2 | ENSG00000052795.13 | transcript | ENST00000264433.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
FNIP2_chr4_158764026_158913050 | 158875541 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02818.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0002 | a0001c0001t0002g0233a0001c0009t0002g0235 | 2 | 254 | 0.0079 | 46 | c.294 others(65): Show |
FNIP2 | ENSG00000052795.13 | transcript | ENST00000264433.11 | protein_coding | 14/16 | chr4 | TogoVar | ||||||
FOXI1_chr5_170100897_170114734 | 170105348 | G | GGAGAGGG others(39): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 412 | 0.0024 | 46 | c.-61 others(55): Show |
FOXI1 | ENSG00000168269.10 | transcript | ENST00000306268.8 | protein_coding | 548 | chr5 | TogoVar | ||||||
FOXI1_chr5_170100897_170114734 | 170105356 | G | GGGGGGGG others(39): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG02135.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 2 | 412 | 0.0049 | 46 | c.-60 others(55): Show |
FOXI1 | ENSG00000168269.10 | transcript | ENST00000306268.8 | protein_coding | 540 | chr5 | TogoVar | ||||||
FOXI1_chr5_170100897_170114734 | 170105368 | G | GGAGAGAG others(39): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01106.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003 | 8 | 412 | 0.0194 | 46 | c.-59 others(55): Show |
FOXI1 | ENSG00000168269.10 | transcript | ENST00000306268.8 | protein_coding | 528 | chr5 | TogoVar | ||||||
FOXI1_chr5_170100897_170114734 | 170105370 | G | GGAGAGAG others(39): Show |
upstream_gene_variant | MODIFIER | NA19083.hp1 NA19087.hp2 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0007 | 2 | 412 | 0.0049 | 46 | c.-58 others(55): Show |
FOXI1 | ENSG00000168269.10 | transcript | ENST00000306268.8 | protein_coding | 526 | chr5 | TogoVar | ||||||
FOXK1_chr7_4677295_4776442 | 4705970 | A | ATGTATAT others(39): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0235 | 1 | 294 | 0.0034 | 46 | c.560 others(65): Show |
FOXK1 | ENSG00000164916.11 | transcript | ENST00000328914.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GAGGGGAA others(39): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03710.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0021a0002c0002t0001 | a0001c0001t0021g0247a0002c0002t0001g0103 | 2 | 308 | 0.0065 | 46 | c.157 others(61): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89377020 | C | CAAAAAAA others(39): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0150 | 1 | 230 | 0.0044 | 46 | c.544 others(65): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71397010 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0046 | 1 | 96 | 0.0104 | 46 | c.-16 others(67): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
FOXP2_chr7_114409815_114698765 | 114587879 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0136 | 1 | 174 | 0.0058 | 46 | c.259 others(65): Show |
FOXP2 | ENSG00000128573.28 | transcript | ENST00000350908.9 | protein_coding | 3/16 | chr7 | TogoVar | ||||||
FOXQ1_chr6_1307098_1319758 | 1316956 | G | GCCCCCCC others(39): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0000 | 1 | 406 | 0.0025 | 46 | c.*30 others(57): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2199 | chr6 | TogoVar | ||||||
FOXQ1_chr6_1307098_1319758 | 1316956 | G | GCCCCCCC others(39): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0000 | 1 | 406 | 0.0025 | 46 | c.*30 others(57): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2199 | chr6 | TogoVar | ||||||
FOXQ1_chr6_1307098_1319758 | 1316961 | C | CCCTCCAG others(39): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 406 | 0.0025 | 46 | c.*30 others(57): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2204 | chr6 | TogoVar | ||||||
FOXQ1_chr6_1307098_1319758 | 1316999 | G | GCCCCCCC others(39): Show |
downstream_gene_variant | MODIFIER | HG03491.hp1 | a0018 | a0018c0015 | a0018c0015t0001 | a0018c0015t0001g0000 | 1 | 406 | 0.0025 | 46 | c.*30 others(57): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2242 | chr6 | TogoVar | ||||||
FRAS1_chr4_78052323_78549269 | 78249064 | C | CATATATA others(39): Show |
intron_variant | MODIFIER | HG00323.hp2 NA20300.hp2 |
a0033a0099 | a0033c0035a0099c0069 | a0033c0035t0005a0099c0069t0008 | a0033c0035t0005g0026a0099c0069t0008g0101 | 2 | 178 | 0.0112 | 46 | c.310 others(63): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 4/73 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
FRAS1_chr4_78052323_78549269 | 78249066 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02055.hp2 |
a0002a0004 | a0002c0053a0004c0018 | a0002c0053t0043a0004c0018t0016 | a0002c0053t0043g0032a0004c0018t0016g0131 | 2 | 178 | 0.0112 | 46 | c.310 others(63): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 4/73 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
FRMD4A_chr10_13638706_14335924 | 13884118 | A | ACTCACAC others(39): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013 | a0001c0001t0004g0073a0001c0001t0013g0074 | 2 | 134 | 0.0149 | 46 | c.46- others(63): Show |
FRMD4A | ENSG00000151474.23 | transcript | ENST00000357447.7 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
FRS2_chr12_69465388_69584793 | 69485097 | A | ACACACAC others(39): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 | 1 | 342 | 0.0029 | 46 | c.-26 others(67): Show |
FRS2 | ENSG00000166225.9 | transcript | ENST00000549921.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
FRYL_chr4_48492357_48785279 | 48656308 | T | TATATATT others(39): Show |
intron_variant | MODIFIER | HG03453.hp1 NA19030.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0211a0002c0004t0001g0242 | 2 | 282 | 0.0071 | 46 | c.-80 others(65): Show |
FRYL | ENSG00000075539.15 | transcript | ENST00000358350.9 | protein_coding | 3/63 | chr4 | TogoVar | ||||||
FRYL_chr4_48492357_48785279 | 48656317 | C | CATAATAT others(39): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(74): Show |
a0001a0003a0006others(5): Show | a0001c0002a0001c0003a0001c0006others(7): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(11): Show | a0001c0002t0001g0004a0001c0002t0001g0010a0001c0002t0001g0012others(74): Show | 77 | 282 | 0.2731 | 46 | c.-80 others(65): Show |
FRYL | ENSG00000075539.15 | transcript | ENST00000358350.9 | protein_coding | 3/63 | chr4 | TogoVar | ||||||
FSHR_chr2_48957157_49159515 | 49021863 | C | CTCTCTCT others(39): Show |
intron_variant | MODIFIER | HG01975.hp2 NA18972.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0115a0002c0002t0002g0110 | 2 | 350 | 0.0057 | 46 | c.225 others(63): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 2/9 | chr2 | TogoVar | ||||||
FSHR_chr2_48957157_49159515 | 49021863 | C | CTCTCTCT others(39): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 350 | 0.0029 | 46 | c.225 others(63): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 2/9 | chr2 | TogoVar | ||||||
FSHR_chr2_48957157_49159515 | 49021863 | C | CTCTCTCT others(39): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 350 | 0.0029 | 46 | c.225 others(63): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 2/9 | chr2 | TogoVar | ||||||
FSTL5_chr4_161378897_162169000 | 161783675 | T | TTCCCTTC others(39): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0077 | 1 | 142 | 0.0070 | 46 | c.410 others(63): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 4/15 | chr4 | TogoVar | ||||||
FXN_chr9_69030752_69084076 | 69037284 | A | AAAAGAAG others(39): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01192.hp2 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0319a0001c0001t0006g0320a0001c0001t0006g0359 | 3 | 432 | 0.0069 | 46 | c.165 others(63): Show |
FXN | ENSG00000165060.15 | transcript | ENST00000484259.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FYTTD1_chr3_197744883_197792596 | 197792577 | T | TTATATAT others(39): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 NA18940.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0232a0001c0001t0006g0129 | 2 | 256 | 0.0078 | 46 | c.*10 others(59): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 4982 | chr3 | TogoVar | ||||||
FZR1_chr19_3501311_3543334 | 3529299 | T | TGAGTGGA others(39): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0064 | 1 | 314 | 0.0032 | 46 | c.655 others(63): Show |
FZR1 | ENSG00000105325.15 | transcript | ENST00000441788.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
G3BP2_chr4_75637786_75678411 | 75643295 | T | TTATATAT others(39): Show |
3_prime_UTR_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0235 | 1 | 330 | 0.0030 | 46 | c.*21 others(57): Show |
G3BP2 | ENSG00000138757.15 | transcript | ENST00000359707.9 | protein_coding | 12/12 | 2134 | chr4 | TogoVar | |||||
GAB1_chr4_143331876_143479565 | 143373868 | A | AATAAATA others(39): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 194 | 0.0052 | 46 | c.72+ others(63): Show |
GAB1 | ENSG00000109458.10 | transcript | ENST00000262994.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABBR2_chr9_98283109_98713935 | 98688394 | C | CATATATA others(39): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0015 | a0001c0015t0014 | a0001c0015t0014g0039 | 1 | 164 | 0.0061 | 46 | c.321 others(65): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46273468 | C | CATATATA others(39): Show |
intron_variant | MODIFIER | HG00639.hp2 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0068a0001c0002t0180 | a0001c0002t0068g0039a0001c0002t0180g0231 | 2 | 258 | 0.0078 | 46 | c.857 others(65): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 8/9 | chr4 | TogoVar | ||||||
GAD1_chr2_170811887_170866151 | 170828147 | C | CACCCTCC others(39): Show |
intron_variant | MODIFIER | NA18986.hp2 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | 412 | 0.0049 | 46 | c.146 others(63): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GAD1_chr2_170811887_170866151 | 170828365 | T | TTCCCTCT others(39): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 412 | 0.0024 | 46 | c.146 others(63): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GAL3ST2_chr2_241771822_241809287 | 241805556 | A | ACCCTCCC others(39): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 314 | 0.0032 | 46 | c.*13 others(57): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1270 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241806154 | A | ACCTTCCC others(39): Show |
downstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 314 | 0.0032 | 46 | c.*19 others(57): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1868 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241806532 | A | ACCCTCCC others(39): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0080 | 1 | 314 | 0.0032 | 46 | c.*23 others(57): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2246 | chr2 | TogoVar | ||||||
GALC_chr14_87928014_87998182 | 87936896 | C | CTATATAT others(39): Show |
intron_variant | MODIFIER | HG03540.hp2 NA19001.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0002 | a0001c0001t0001g0317a0002c0004t0002g0291 | 2 | 370 | 0.0054 | 46 | c.191 others(65): Show |
GALC | ENSG00000054983.17 | transcript | ENST00000261304.7 | protein_coding | 16/16 | chr14 | TogoVar |