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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FOXN3_chr14_89151177_89422233 | 89361263 | A | ACCACCTC others(419): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0008 | 1 | 230 | 0.0044 | 426 | c.544 others(445): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
GABRA3_chrX_152161234_152456315 | 152182722 | G | GTATAGTG others(419): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 204 | 0.0049 | 426 | c.114 others(445): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 9/9 | chrX | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807178 | T | TTCCCTCC others(419): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 314 | 0.0032 | 426 | c.*30 others(437): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2892 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807495 | T | TCCCTCCT others(419): Show |
downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 314 | 0.0032 | 426 | c.*33 others(437): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3209 | chr2 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218054 | C | CCCCAACA others(419): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0004 | 1 | 106 | 0.0094 | 426 | c.*25 others(437): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 885 | chr8 | TogoVar | |||||||
GTPBP4_chr10_983434_1024932 | 1010845 | A | ACTCTGGT others(419): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 a0001c0001t0001g0252 |
2 | 370 | 0.0054 | 426 | c.134 others(443): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GTPBP4_chr10_983434_1024932 | 1010845 | A | ACTCTGGT others(419): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0235 | 1 | 370 | 0.0027 | 426 | c.134 others(443): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GTPBP4_chr10_983434_1024932 | 1010845 | A | ACTCTGGT others(419): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 370 | 0.0027 | 426 | c.134 others(443): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GTPBP4_chr10_983434_1024932 | 1010918 | C | CCACCCCG others(419): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 370 | 0.0027 | 426 | c.134 others(443): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106709971 | A | ACATGTAT others(419): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG02132.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0008a0001c0001t0060others(2): Show | a0001c0001t0007g0027 a0001c0001t0007g0056 a0001c0001t0007g0057 others(6): Show |
9 | 256 | 0.0352 | 426 | c.183 others(445): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239124736 | T | TGCATTAT others(419): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0053 | 1 | 242 | 0.0041 | 426 | c.153 others(445): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 12/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239124755 | T | TGTTATGT others(419): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0023 | a0001c0023t0070 | a0001c0023t0070g0094 | 1 | 242 | 0.0041 | 426 | c.153 others(445): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 12/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239124755 | T | TGTTATGT others(419): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0187 | 1 | 242 | 0.0041 | 426 | c.153 others(445): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 12/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239124755 | T | TGTTATGT others(419): Show |
intron_variant | MODIFIER | HG02148.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0031 | a0001c0001t0001a0001c0031t0001 | a0001c0001t0001g0241 a0001c0031t0001g0064 |
2 | 242 | 0.0083 | 426 | c.153 others(445): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 12/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239124755 | T | TGTTATGT others(419): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(66): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0002 a0001c0001t0001g0049 a0001c0001t0001g0057 others(66): Show |
69 | 242 | 0.2851 | 426 | c.153 others(445): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 12/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239124755 | T | TGTTATGT others(419): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01106.hp2 others(34): Show |
a0001a0004a0010 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0035a0001c0003t0001a0001c0003t0002others(22): Show | a0001c0001t0035g0090 a0001c0003t0001g0023 a0001c0003t0001g0233 others(34): Show |
37 | 242 | 0.1529 | 426 | c.153 others(445): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 12/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239124755 | T | TGTTATGT others(419): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00735.hp1 others(13): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(8): Show | a0001c0001t0001g0085 a0001c0001t0001g0103 a0001c0001t0001g0104 others(13): Show |
16 | 242 | 0.0661 | 426 | c.153 others(445): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 12/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239124755 | T | TGTTATGT others(419): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0051 | 1 | 242 | 0.0041 | 426 | c.153 others(445): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 12/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239124755 | T | TGTTATGT others(419): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0009 | a0001c0009t0051 | a0001c0009t0051g0020 | 1 | 242 | 0.0041 | 426 | c.153 others(445): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 12/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239124755 | T | TGTTATGT others(419): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02602.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0136 a0001c0001t0025g0132 |
2 | 242 | 0.0083 | 426 | c.153 others(445): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 12/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239124755 | T | TGTTATGT others(419): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0009 | a0001c0009t0054 | a0001c0009t0054g0122 | 1 | 242 | 0.0041 | 426 | c.153 others(445): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 12/26 | chr2 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321822 | A | ATGTGGAA others(419): Show |
upstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 323 | 0.0031 | 426 | c.-32 others(437): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3147 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321822 | A | ATGTGGAA others(419): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 323 | 0.0031 | 426 | c.-32 others(437): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3147 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323368 | G | GAATGTAT others(419): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0008 | a0003c0008t0017 | a0003c0008t0017g0144 | 1 | 323 | 0.0031 | 426 | c.-16 others(437): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1601 | chr21 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178757984 | G | GATATATA others(419): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0100 | 1 | 232 | 0.0043 | 426 | c.-67 others(445): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63442773 | T | TTACCACC others(419): Show |
intron_variant | MODIFIER | HG02622.hp1 NA19240.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0025a0002c0001t0026 | a0001c0002t0025g0101 a0002c0001t0026g0102 |
2 | 330 | 0.0061 | 426 | c.691 others(441): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63442782 | C | CCATTACC others(419): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0001 | a0002c0001t0026 | a0002c0001t0026g0103 | 1 | 330 | 0.0030 | 426 | c.691 others(441): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45229055 | A | ACACTCAC others(419): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0373 | 1 | 398 | 0.0025 | 426 | c.64+ others(443): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997188 | G | GCGGGGGA others(419): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG02080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 a0001c0001t0001g0208 |
2 | 375 | 0.0053 | 426 | c.-22 others(437): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 482 | chr6 | TogoVar | |||||||
KIF3B_chr20_32272651_32340011 | 32322878 | T | TTATATTT others(419): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0081 a0001c0003t0010g0082 |
2 | 242 | 0.0083 | 426 | c.174 others(445): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(419): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0018 | a0018c0011 | a0018c0011t0001 | a0018c0011t0001g0046 | 1 | 316 | 0.0032 | 426 | c.583 others(441): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(419): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0079 | 1 | 316 | 0.0032 | 426 | c.583 others(441): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(419): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 316 | 0.0032 | 426 | c.583 others(441): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(419): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 316 | 0.0032 | 426 | c.583 others(441): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(419): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01943.hp1 HG02451.hp1 others(22): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0014 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(22): Show |
25 | 316 | 0.0791 | 426 | c.583 others(441): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(419): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00609.hp2 others(40): Show |
a0001a0016 | a0001c0001a0016c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(31): Show |
43 | 316 | 0.1361 | 426 | c.583 others(441): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(419): Show |
intron_variant | MODIFIER | HG03098.hp2 NA19240.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0192 a0002c0003t0001g0104 |
2 | 316 | 0.0063 | 426 | c.583 others(441): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(419): Show |
intron_variant | MODIFIER | HG02109.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 2 | 316 | 0.0063 | 426 | c.583 others(441): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(419): Show |
upstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 370 | 0.0027 | 426 | c.-27 others(437): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(419): Show |
upstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 370 | 0.0027 | 426 | c.-27 others(437): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24602247 | T | TATATGTA others(419): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0089 | 1 | 116 | 0.0086 | 426 | c.62+ others(445): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39234647 | A | ACCCCCCC others(419): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0161 | 1 | 246 | 0.0041 | 426 | c.171 others(443): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MACF1_chr1_39199695_39492138 | 39234647 | A | ACCGCCCC others(419): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0052 | a0052c0052 | a0052c0052t0001 | a0052c0052t0001g0205 | 1 | 246 | 0.0041 | 426 | c.171 others(443): Show |
MACF1 | ENSG00000127603.32 | transcript | ENST00000564288.6 | protein_coding | 2/100 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19315431 | A | ATATAATT others(419): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0040 | a0040c0032 | a0040c0032t0001 | a0040c0032t0001g0124 | 1 | 152 | 0.0066 | 426 | c.342 others(445): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 21/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MBNL3_chrX_132364320_132494038 | 132396745 | T | TATTCATA others(419): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 191 | 0.0052 | 426 | c.343 others(443): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(419): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0007 | a0007c0112 | a0007c0112t0007 | a0007c0112t0007g0010 | 1 | 292 | 0.0034 | 426 | c.377 others(443): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(419): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02922.hp1 HG03209.hp1 |
a0005a0022a0024 | a0005c0028a0022c0078a0024c0087 | a0005c0028t0010a0022c0078t0008a0024c0087t0055 | a0005c0028t0010g0259 a0022c0078t0008g0256 a0024c0087t0055g0260 |
3 | 292 | 0.0103 | 426 | c.377 others(443): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(419): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18747.hp2 NA19065.hp2 |
a0018a0091a0101 | a0018c0015a0091c0045a0101c0050 | a0018c0015t0004a0091c0045t0001a0101c0050t0001 | a0018c0015t0004g0015 a0091c0045t0001g0056 a0101c0050t0001g0035 |
3 | 292 | 0.0103 | 426 | c.377 others(443): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
METTL25B_chr1_156723469_156741960 | 156735534 | T | TAAAAAAA others(419): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 390 | 0.0026 | 426 | c.112 others(443): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MFSD3_chr8_144504070_144516213 | 144513846 | T | TGGGCAGT others(419): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 426 | c.*26 others(437): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 2634 | chr8 | TogoVar |