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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DIP2B_chr12_50499985_50753657 | 50593799 | C | CCTCCCCT others(92): Show |
intron_variant | MODIFIER | HG02071.hp2 NA18979.hp1 NA18990.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0018 a0001c0003t0002g0036 a0001c0003t0002g0050 others(1): Show |
4 | 206 | 0.0194 | 99 | c.101 others(118): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 322520 | G | GGCGAGAG others(92): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0041 | 1 | 67 | 0.0149 | 99 | c.392 others(118): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 448274 | T | TATACTCA others(92): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0073 | 1 | 88 | 0.0114 | 99 | c.269 others(116): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 3/36 | chr10 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522530 | A | ACCCAGCC others(92): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0172 | 1 | 356 | 0.0028 | 99 | c.236 others(118): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522562 | A | AGCCCAGC others(92): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18998.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0126 a0002c0002t0002g0204 |
2 | 343 | 0.0058 | 99 | c.236 others(118): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522574 | A | ACCCAGCC others(92): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0011 | a0002c0011t0003 | a0002c0011t0003g0128 | 1 | 313 | 0.0032 | 99 | c.236 others(118): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522629 | G | GCCCAGCC others(92): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(70): Show |
a0003a0004a0005others(5): Show | a0003c0003a0003c0008a0003c0032others(8): Show | a0003c0003t0001a0003c0003t0003a0003c0008t0002others(12): Show | a0003c0003t0001g0011 a0003c0003t0001g0095 a0003c0003t0001g0096 others(68): Show |
73 | 286 | 0.2552 | 99 | c.236 others(118): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522629 | G | GCCCAGCC others(92): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0116 | 1 | 214 | 0.0047 | 99 | c.236 others(118): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522650 | G | GACCCAGC others(92): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0143 | 1 | 295 | 0.0034 | 99 | c.236 others(118): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522684 | G | GCCCAGCC others(92): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0172 | 1 | 253 | 0.0040 | 99 | c.236 others(118): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522684 | G | GCCCAGCC others(92): Show |
intron_variant | MODIFIER | NA18947.hp1 NA19010.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0052 a0002c0002t0002g0207 |
2 | 254 | 0.0079 | 99 | c.236 others(118): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1227151 | G | GAGATATA others(92): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0004 | a0004c0008 | a0004c0008t0016 | a0004c0008t0016g0028 | 1 | 34 | 0.0294 | 99 | c.74- others(116): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21724777 | T | TCACTGGG others(92): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(169): Show |
a0002a0003a0004others(131): Show | a0002c0001a0002c0002a0003c0009others(154): Show | a0002c0001t0004a0002c0002t0004a0003c0009t0002others(156): Show | a0002c0001t0004g0253 a0002c0001t0004g0277 a0002c0002t0004g0296 others(169): Show |
172 | 249 | 0.6908 | 99 | c.726 others(118): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 44/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAI7_chr12_25103289_25200160 | 25174520 | C | CATATATA others(92): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0099 |
2 | 189 | 0.0106 | 99 | c.22- others(116): Show |
DNAI7 | ENSG00000118307.20 | transcript | ENST00000395987.8 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
DNAJB6_chr7_157332004_157422439 | 157357213 | T | TTCGTTCT others(92): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 310 | 0.0032 | 99 | c.-26 others(116): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
DNAJB6_chr7_157332004_157422439 | 157357245 | T | TTCTTTCT others(92): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0346 | 1 | 346 | 0.0029 | 99 | c.-26 others(116): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
DNAJC4_chr11_64225548_64239281 | 64237104 | A | AGAGAGAG others(92): Show |
downstream_gene_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 328 | 0.0030 | 99 | c.*29 others(110): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2824 | chr11 | TogoVar | |||||||
DNAJC4_chr11_64225548_64239281 | 64237123 | G | GAGAGAGA others(92): Show |
downstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 248 | 0.0040 | 99 | c.*29 others(110): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2843 | chr11 | TogoVar | |||||||
DNAJC4_chr11_64225548_64239281 | 64237123 | G | GAGAGAGA others(92): Show |
downstream_gene_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 248 | 0.0040 | 99 | c.*29 others(110): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2843 | chr11 | TogoVar | |||||||
DOCK10_chr2_224760090_225047468 | 224909792 | T | TAACATGC others(92): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0035 | 1 | 74 | 0.0135 | 99 | c.333 others(116): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 3/55 | chr2 | TogoVar | |||||||
DOCK10_chr2_224760090_225047468 | 224909792 | T | TAACATGC others(92): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG02280.hp2 others(4): Show |
a0001a0002a0011 | a0001c0006a0002c0002a0002c0009others(2): Show | a0001c0006t0001a0002c0002t0001a0002c0009t0001others(2): Show | a0001c0006t0001g0107 a0002c0002t0001g0064 a0002c0002t0001g0065 others(4): Show |
7 | 80 | 0.0875 | 99 | c.333 others(116): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 3/55 | chr2 | TogoVar | |||||||
DOCK10_chr2_224760090_225047468 | 224909792 | T | TAACATGC others(92): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(31): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0051 a0001c0001t0001g0144 a0001c0001t0002g0085 others(31): Show |
34 | 107 | 0.3178 | 99 | c.333 others(116): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 3/55 | chr2 | TogoVar | |||||||
DOCK10_chr2_224760090_225047468 | 224909792 | T | TAACATGC others(92): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02559.hp1 others(5): Show |
a0002a0008 | a0002c0003a0002c0017a0002c0021others(1): Show | a0002c0003t0001a0002c0003t0002a0002c0017t0001others(2): Show | a0002c0003t0001g0062 a0002c0003t0001g0087 a0002c0003t0001g0122 others(5): Show |
8 | 81 | 0.0988 | 99 | c.333 others(116): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 3/55 | chr2 | TogoVar | |||||||
DOCK10_chr2_224760090_225047468 | 224909792 | T | TAACATGC others(92): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 74 | 0.0135 | 99 | c.333 others(116): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 3/55 | chr2 | TogoVar | |||||||
DOCK10_chr2_224760090_225047468 | 224909792 | T | TAACATGC others(92): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00621.hp1 others(37): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0018others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0112 others(37): Show |
40 | 113 | 0.3540 | 99 | c.333 others(116): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 3/55 | chr2 | TogoVar | |||||||
DOCK10_chr2_224760090_225047468 | 224909792 | T | TAACATGC others(92): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0037 | 1 | 74 | 0.0135 | 99 | c.333 others(116): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 3/55 | chr2 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126947266 | C | CTACTGTT others(92): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0027 | 1 | 131 | 0.0076 | 99 | c.47- others(116): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126947284 | G | GTGGTGGT others(92): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0004 | a0004c0039 | a0004c0039t0003 | a0004c0039t0003g0006 | 1 | 133 | 0.0075 | 99 | c.47- others(116): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126947340 | T | TTGGTGAT others(92): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0064 | a0001c0064t0001 | a0001c0064t0001g0055 | 1 | 112 | 0.0089 | 99 | c.47- others(116): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126947448 | G | GTGGTGGT others(92): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 75 | 0.0133 | 99 | c.47- others(116): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126947680 | A | ATGGTGGT others(92): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0069 | a0001c0069t0008 | a0001c0069t0008g0112 | 1 | 47 | 0.0213 | 99 | c.47- others(116): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126947779 | A | ATGGTGGT others(92): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0066 | 1 | 116 | 0.0086 | 99 | c.47- others(116): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126947847 | A | ATGGTGGT others(92): Show |
intron_variant | MODIFIER | HG02717.hp1 NA18522.hp1 |
a0001a0003 | a0001c0004a0003c0003 | a0001c0004t0010a0003c0003t0004 | a0001c0004t0010g0052 a0003c0003t0004g0108 |
2 | 114 | 0.0175 | 99 | c.47- others(116): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126947881 | A | ATGGTGGT others(92): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0017 | a0002c0017t0002 | a0002c0017t0002g0136 | 1 | 128 | 0.0078 | 99 | c.47- others(116): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126947997 | T | TATTACTG others(92): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0046 | a0003c0046t0013 | a0003c0046t0013g0043 | 1 | 134 | 0.0075 | 99 | c.47- others(116): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948051 | G | GTGGTAGT others(92): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0037 | a0001c0037t0002 | a0001c0037t0002g0117 | 1 | 131 | 0.0076 | 99 | c.47- others(116): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948056 | G | GGTTGGTA others(92): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0044 | a0003c0044t0004 | a0003c0044t0004g0060 | 1 | 130 | 0.0077 | 99 | c.47- others(116): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948082 | A | ATGGTGGT others(92): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 | 1 | 116 | 0.0086 | 99 | c.47- others(116): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948150 | A | ATGGTGGT others(92): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0058 | a0002c0058t0002 | a0002c0058t0002g0011 | 1 | 124 | 0.0081 | 99 | c.47- others(116): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948215 | A | ATGGTGGT others(92): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0010 | a0002c0010t0005 | a0002c0010t0005g0083 | 1 | 123 | 0.0081 | 99 | c.47- others(116): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948283 | A | ATGGTGGT others(92): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0049 | a0001c0049t0002 | a0001c0049t0002g0017 | 1 | 123 | 0.0081 | 99 | c.47- others(116): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948283 | A | ATGGTGGT others(92): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0074 | a0002c0074t0001 | a0002c0074t0001g0107 | 1 | 123 | 0.0081 | 99 | c.47- others(116): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948291 | G | GGTTGGTA others(92): Show |
intron_variant | MODIFIER | HG02257.hp1 HG06807.hp1 |
a0001a0004 | a0001c0052a0004c0020 | a0001c0052t0002a0004c0020t0003 | a0001c0052t0002g0035 a0004c0020t0003g0023 |
2 | 133 | 0.0150 | 99 | c.47- others(116): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400821 | C | CCACCACC others(92): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 |
a0001a0002 | a0001c0066a0002c0122 | a0001c0066t0001a0002c0122t0002 | a0001c0066t0001g0006 a0002c0122t0002g0232 |
2 | 232 | 0.0086 | 99 | c.323 others(118): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400849 | C | CACCACCG others(92): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0141 | 1 | 245 | 0.0041 | 99 | c.323 others(118): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400891 | C | CGTCACCA others(92): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0108 | 1 | 254 | 0.0039 | 99 | c.323 others(118): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | chr9 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400963 | C | CCTCACCA others(92): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0033 | a0033c0075 | a0033c0075t0002 | a0033c0075t0002g0202 | 1 | 227 | 0.0044 | 99 | c.323 others(118): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | chr9 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 640138 | C | CCCCGCGC others(92): Show |
conservative_inframe_insertion | MODERATE | NA19000.hp1 | a0022 | a0022c0027 | a0022c0027t0001 | a0022c0027t0001g0010 | 1 | 418 | 0.0024 | 99 | c.891 others(106): Show |
p.Pro others(112): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 928/1399 | 892/1260 | 298/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
DUS3L_chr19_5780140_5796163 | 5796129 | G | GCCTTCTT others(92): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 NA18612.hp1 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0001 | 2 | 123 | 0.0163 | 99 | c.-49 others(110): Show |
DUS3L | ENSG00000141994.16 | transcript | ENST00000309061.12 | protein_coding | 4967 | chr19 | TogoVar | |||||||
DUS3L_chr19_5780140_5796163 | 5796129 | G | GTCTTCTT others(92): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0001 | 1 | 122 | 0.0082 | 99 | c.-49 others(110): Show |
DUS3L | ENSG00000141994.16 | transcript | ENST00000309061.12 | protein_coding | 4967 | chr19 | TogoVar |