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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGAP39_chr8_144524179_144690846 | 144634144 | A | AGAACTCC others(690): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0119 | 1 | 91 | 0.0110 | 697 | c.-81 others(716): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
ARSF_chrX_3036471_3117727 | 3037056 | T | TTATATAT others(690): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0039 |
2 | 168 | 0.0119 | 697 | c.-46 others(708): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4414 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3037056 | T | TTATATAT others(690): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0201 | 1 | 218 | 0.0046 | 697 | c.*36 others(708): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2946 | chrX | TogoVar | |||||||
C11orf24_chr11_68256338_68276973 | 68264684 | C | CCATCCAT others(690): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0108 | 1 | 81 | 0.0123 | 697 | c.-99 others(712): Show |
C11orf24 | ENSG00000171067.11 | transcript | ENST00000304271.11 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
C11orf24_chr11_68256338_68276973 | 68264684 | C | CTATCCAT others(690): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02622.hp2 others(9): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0008 a0001c0005t0001g0109 |
12 | 92 | 0.1304 | 697 | c.-99 others(712): Show |
C11orf24 | ENSG00000171067.11 | transcript | ENST00000304271.11 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
C11orf24_chr11_68256338_68276973 | 68264684 | C | CTATCCAT others(690): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 | 1 | 81 | 0.0123 | 697 | c.-99 others(712): Show |
C11orf24 | ENSG00000171067.11 | transcript | ENST00000304271.11 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGC others(690): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0132 | a0003c0132t0028 | a0003c0132t0028g0277 | 1 | 194 | 0.0052 | 697 | c.300 others(714): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53922454 | G | GCTGGTCA others(690): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0310 | 1 | 331 | 0.0030 | 697 | c.424 others(714): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(690): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0102 | 1 | 12 | 0.0833 | 697 | c.-45 others(718): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132895913 | C | CGGTGAGA others(690): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0045 | a0045c0107 | a0045c0107t0002 | a0045c0107t0002g0103 | 1 | 158 | 0.0063 | 697 | c.321 others(716): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 24/57 | chr10 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20357778 | G | GGAGGTGG others(690): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0008 | 1 | 120 | 0.0083 | 697 | c.351 others(716): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(690): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0258 | 1 | 180 | 0.0056 | 697 | c.85- others(714): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
CSNK1G2_chr19_1936172_1986338 | 1967976 | C | CCCAGGCT others(690): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 377 | 0.0027 | 697 | c.-26 others(716): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233397090 | A | ACCAGAGG others(690): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0238 | 1 | 332 | 0.0030 | 697 | c.348 others(714): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62875344 | C | CCACCCGC others(690): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0006 | a0006c0008 | a0006c0008t0005 | a0006c0008t0005g0169 | 1 | 305 | 0.0033 | 697 | c.*38 others(708): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2398 | chr20 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438425 | A | AAGGAGGA others(690): Show |
intron_variant | MODIFIER | HG02109.hp1 NA19240.hp1 |
a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0014 a0004c0014t0001g0015 |
2 | 225 | 0.0089 | 697 | c.118 others(716): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438425 | A | AAGGAGGA others(690): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0094 | a0002c0094t0001 | a0002c0094t0001g0173 | 1 | 224 | 0.0045 | 697 | c.118 others(716): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
EGFL7_chr9_136657916_136677678 | 136675317 | C | CAGGGGGC others(690): Show |
downstream_gene_variant | MODIFIER | NA18945.hp1 NA19063.hp1 NA19080.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0003 | a0001c0001t0001g0095 a0002c0002t0002g0005 a0002c0002t0003g0005 |
4 | 268 | 0.0149 | 697 | c.*30 others(708): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 2640 | chr9 | TogoVar | |||||||
EGFL7_chr9_136657916_136677678 | 136675317 | C | CAGGGGGC others(690): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0017 | 1 | 265 | 0.0038 | 697 | c.*30 others(708): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 2640 | chr9 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3316029 | C | CACCACCA others(690): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0040 a0001c0001t0004g0042 |
2 | 232 | 0.0086 | 697 | c.259 others(716): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
GRIK4_chr11_120506748_120993906 | 120876376 | T | TCACCACC others(690): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02109.hp2 HG02257.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0019a0001c0002t0002others(1): Show | a0001c0001t0002g0079 a0001c0001t0002g0107 a0001c0001t0019g0080 others(4): Show |
7 | 9 | 0.7778 | 697 | c.116 others(716): Show |
GRIK4 | ENSG00000149403.13 | transcript | ENST00000527524.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GRIK4_chr11_120506748_120993906 | 120876376 | T | TCACCACC others(690): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 3 | 0.3333 | 697 | c.116 others(716): Show |
GRIK4 | ENSG00000149403.13 | transcript | ENST00000527524.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45376251 | A | AGAATATA others(690): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0078 | 1 | 3 | 0.3333 | 697 | c.123 others(718): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925903 | T | TGGATGGA others(690): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0115 | 1 | 370 | 0.0027 | 697 | c.666 others(714): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1334525 | A | ACTCCATC others(690): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG02622.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0089 a0001c0001t0003g0107 a0001c0001t0006g0080 |
3 | 112 | 0.0268 | 697 | c.-24 others(708): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 2259 | chrX | TogoVar | |||||||
INS_chr11_2154779_2166209 | 2161650 | G | GACCCCTG others(690): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 290 | 0.0034 | 697 | c.-50 others(706): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 442 | chr11 | TogoVar | |||||||
KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(690): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 11 | 0.0909 | 697 | c.*52 others(708): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202205150 | C | CCACACAC others(690): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(49): Show |
a0001a0002a0008 | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0092 a0001c0001t0001g0131 a0001c0001t0001g0132 others(49): Show |
52 | 61 | 0.8525 | 697 | c.212 others(716): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859648 | G | GAGTCGTG others(690): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 289 | 0.0035 | 697 | c.153 others(716): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859664 | C | CGGGTGTG others(690): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 188 | 0.0053 | 697 | c.153 others(716): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859664 | C | CGGGTGTG others(690): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0145 | 1 | 188 | 0.0053 | 697 | c.153 others(716): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859664 | C | CGGGTGTG others(690): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG01081.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0169 a0001c0001t0001g0222 a0001c0002t0001g0093 others(18): Show |
21 | 208 | 0.1010 | 697 | c.153 others(716): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859664 | C | CGGGTGTG others(690): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 188 | 0.0053 | 697 | c.153 others(716): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859664 | C | CGGGTGTG others(690): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 188 | 0.0053 | 697 | c.153 others(716): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859664 | C | CGGGTGTG others(690): Show |
intron_variant | MODIFIER | HG03834.hp2 HG03927.hp1 NA20300.hp1 |
a0005 | a0005c0029a0005c0043 | a0005c0029t0003a0005c0043t0003 | a0005c0029t0003g0182 a0005c0029t0003g0205 a0005c0043t0003g0119 |
3 | 190 | 0.0158 | 697 | c.153 others(716): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LOC102723971_chr9_135609183_135624893 | 135619921 | A | ATCTCCCC others(690): Show |
downstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 434 | 0.0023 | 697 | c.*96 others(706): Show |
LOC102723971 | ENSG00000236543.3 | transcript | ENST00000430816.3 | protein_coding | 29 | chr9 | TogoVar | |||||||
LRP5_chr11_68307591_68454275 | 68443451 | T | TTGCACTC others(690): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0183 a0001c0002t0001g0184 |
2 | 181 | 0.0110 | 697 | c.448 others(716): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LRP5_chr11_68307591_68454275 | 68443451 | T | TTGCACTC others(690): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01074.hp2 others(7): Show |
a0001a0003 | a0001c0002a0001c0020a0003c0012others(1): Show | a0001c0002t0001a0001c0020t0001a0003c0012t0001others(1): Show | a0001c0002t0001g0009 a0001c0002t0001g0186 a0001c0002t0001g0187 others(6): Show |
10 | 189 | 0.0529 | 697 | c.448 others(716): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LRP5_chr11_68307591_68454275 | 68443451 | T | TTGCACTC others(690): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0068 | 1 | 180 | 0.0056 | 697 | c.448 others(716): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LRP5_chr11_68307591_68454275 | 68443451 | T | TTGCACTC others(690): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01243.hp2 HG01516.hp1 others(12): Show |
a0001a0003a0007others(1): Show | a0001c0004a0001c0005a0001c0009others(4): Show | a0001c0004t0001a0001c0005t0001a0001c0009t0001others(4): Show | a0001c0004t0001g0083 a0001c0004t0001g0107 a0001c0004t0001g0114 others(12): Show |
15 | 194 | 0.0773 | 697 | c.448 others(716): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LY75_chr2_159798355_159909756 | 159874319 | G | GTTTTGTA others(690): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0253 | 1 | 40 | 0.0250 | 697 | c.197 others(716): Show |
LY75 | ENSG00000054219.11 | transcript | ENST00000263636.5 | protein_coding | 12/34 | chr2 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237544247 | T | TGGGCACA others(690): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0017 | a0017c0021 | a0017c0021t0002 | a0017c0021t0002g0252 | 1 | 258 | 0.0039 | 697 | c.153 others(716): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(690): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 8 | 0.1250 | 697 | c.293 others(716): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MTO1_chr6_73456737_73514236 | 73506914 | C | CCTGACCT others(690): Show |
3_prime_UTR_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0228 | 1 | 45 | 0.0222 | 697 | c.*61 others(708): Show |
MTO1 | ENSG00000135297.17 | transcript | ENST00000498286.6 | protein_coding | 12/12 | 6200 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTO1_chr6_73456737_73514236 | 73506914 | C | CCTGACCT others(690): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG02132.hp2 NA18612.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0037a0001c0001t0056others(1): Show | a0001c0001t0015g0013 a0001c0001t0015g0014 a0001c0001t0015g0286 others(7): Show |
10 | 54 | 0.1852 | 697 | c.*61 others(708): Show |
MTO1 | ENSG00000135297.17 | transcript | ENST00000498286.6 | protein_coding | 12/12 | 6200 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTO1_chr6_73456737_73514236 | 73506914 | C | CCTGACCT others(690): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00621.hp2 others(56): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0054a0001c0001t0071a0001c0001t0095others(18): Show | a0001c0001t0054g0247 a0001c0001t0071g0237 a0001c0001t0095g0284 others(56): Show |
59 | 103 | 0.5728 | 697 | c.*61 others(708): Show |
MTO1 | ENSG00000135297.17 | transcript | ENST00000498286.6 | protein_coding | 12/12 | 6200 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTO1_chr6_73456737_73514236 | 73506914 | C | CCTGACCT others(690): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG02818.hp1 HG03471.hp1 |
a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0090 a0001c0002t0027g0091 a0001c0002t0027g0092 |
3 | 47 | 0.0638 | 697 | c.*61 others(708): Show |
MTO1 | ENSG00000135297.17 | transcript | ENST00000498286.6 | protein_coding | 12/12 | 6200 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
NEDD4L_chr18_58039226_58406539 | 58209261 | T | TCCTCCCC others(690): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03225.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0041a0001c0001t0049 | a0001c0001t0034g0099 a0001c0001t0041g0013 a0001c0001t0049g0005 |
3 | 58 | 0.0517 | 697 | c.123 others(716): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | chr18 | TogoVar | |||||||
NKAIN2_chr6_123798865_124830640 | 124687570 | T | TTCCATAT others(690): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 36 | 0.0278 | 697 | c.474 others(716): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | chr6 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664492 | T | TGTCTCGT others(690): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0236 | 1 | 206 | 0.0049 | 697 | c.433 others(714): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar |