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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2711): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0182 | 1 | 195 | 0.0051 | 2718 | c.62+ others(2731): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2711): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0043 | 1 | 195 | 0.0051 | 2718 | c.62+ others(2731): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2711): Show |
intron_variant | MODIFIER | NA18947.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0042 a0001c0001t0003g0041 |
2 | 196 | 0.0102 | 2718 | c.62+ others(2731): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2711): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0227 | 1 | 3 | 0.3333 | 2718 | c.298 others(2735): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
FAM120B_chr6_170301758_170412067 | 170399468 | T | TCTTAGGA others(2711): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0083 | 1 | 279 | 0.0036 | 2718 | c.269 others(2737): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170399756 | G | GAAGGTAG others(2711): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 86 | 0.0116 | 2718 | c.269 others(2737): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583885 | C | CCCGCAGC others(2711): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0126 | 1 | 140 | 0.0071 | 2718 | c.377 others(2735): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80744487 | C | CCCTGGCT others(2711): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0017 | a0001c0017t0008 | a0001c0017t0008g0066 | 1 | 154 | 0.0065 | 2718 | c.655 others(2735): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2711): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0072 | 1 | 49 | 0.0204 | 2718 | c.192 others(2737): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2711): Show |
intron_variant | MODIFIER | HG00323.hp2 HG03654.hp2 NA18946.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0037 a0001c0001t0003g0216 a0001c0001t0003g0328 others(2): Show |
5 | 53 | 0.0943 | 2718 | c.192 others(2737): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2711): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02647.hp1 HG02896.hp1 |
a0001a0014 | a0001c0001a0014c0016 | a0001c0001t0004a0014c0016t0004 | a0001c0001t0004g0219 a0001c0001t0004g0336 a0014c0016t0004g0094 |
3 | 51 | 0.0588 | 2718 | c.192 others(2737): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2711): Show |
intron_variant | MODIFIER | HG01258.hp1 HG03516.hp2 |
a0002a0016 | a0002c0002a0016c0019 | a0002c0002t0001a0016c0019t0001 | a0002c0002t0001g0261 a0016c0019t0001g0093 |
2 | 50 | 0.0400 | 2718 | c.192 others(2737): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157313384 | A | ACGCTCAC others(2711): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01261.hp1 HG02293.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0004 a0001c0004t0009g0054 a0001c0004t0009g0055 others(1): Show |
5 | 9 | 0.5556 | 2718 | c.327 others(2735): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(2712): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 73 | 0.0137 | 2719 | c.162 others(2738): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2712): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0057 | a0057c0099 | a0057c0099t0008 | a0057c0099t0008g0278 | 1 | 34 | 0.0294 | 2719 | c.299 others(2734): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2712): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0129 | 1 | 49 | 0.0204 | 2719 | c.192 others(2738): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2712): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 1 | 49 | 0.0204 | 2719 | c.192 others(2738): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2712): Show |
intron_variant | MODIFIER | HG01346.hp1 NA19060.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 a0002c0002t0001g0324 |
2 | 50 | 0.0400 | 2719 | c.192 others(2738): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2712): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01258.hp2 HG01934.hp2 others(12): Show |
a0002a0004a0005 | a0002c0002a0004c0004a0004c0011others(1): Show | a0002c0002t0001a0004c0004t0001a0004c0004t0012others(2): Show | a0002c0002t0001g0020 a0002c0002t0001g0026 a0002c0002t0001g0029 others(12): Show |
15 | 63 | 0.2381 | 2719 | c.192 others(2738): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2712): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0024 | a0003c0024t0027 | a0003c0024t0027g0347 | 1 | 49 | 0.0204 | 2719 | c.192 others(2738): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(2712): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01258.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0046 a0001c0001t0001g0091 a0001c0001t0001g0111 others(4): Show |
7 | 29 | 0.2414 | 2719 | c.284 others(2738): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2713): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0026 | 1 | 195 | 0.0051 | 2720 | c.62+ others(2733): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2713): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18983.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0011 | a0001c0001t0002g0063 a0002c0002t0011g0040 |
2 | 196 | 0.0102 | 2720 | c.62+ others(2733): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2713): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG00735.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0001c0001t0005a0002c0002t0001others(6): Show | a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0183 others(13): Show |
16 | 210 | 0.0762 | 2720 | c.62+ others(2733): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2713): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0081 | 1 | 195 | 0.0051 | 2720 | c.62+ others(2733): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136802807 | T | TGGGGGCC others(2713): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0126 | 1 | 375 | 0.0027 | 2720 | c.666 others(2733): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2713): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0097 | 1 | 30 | 0.0333 | 2720 | c.445 others(2735): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355671 | G | GGGAGGAA others(2713): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0018 | a0018c0016 | a0018c0016t0001 | a0018c0016t0001g0019 | 1 | 57 | 0.0175 | 2720 | c.757 others(2735): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
OR2T6_chr1_248370746_248396811 | 248384278 | T | TAAAGCAC others(2713): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0011 | a0011c0011 | a0011c0011t0025 | a0011c0011t0025g0083 | 1 | 391 | 0.0026 | 2720 | c.-15 others(2737): Show |
OR2T6 | ENSG00000198104.4 | transcript | ENST00000641644.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2713): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0065 | 1 | 49 | 0.0204 | 2720 | c.192 others(2739): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2713): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0013 | a0013c0029 | a0013c0029t0016 | a0013c0029t0016g0352 | 1 | 49 | 0.0204 | 2720 | c.192 others(2739): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2713): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0033 | 1 | 49 | 0.0204 | 2720 | c.192 others(2739): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2713): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0011 | 1 | 49 | 0.0204 | 2720 | c.192 others(2739): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41649589 | T | TGATCATT others(2713): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03579.hp2 |
a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0160 a0008c0008t0001g0189 |
2 | 240 | 0.0083 | 2720 | c.461 others(2741): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 37/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41649589 | T | TGATCATT others(2713): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 239 | 0.0042 | 2720 | c.461 others(2741): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 37/44 | chr13 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2714): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 2 | 0.5000 | 2721 | c.44- others(2734): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(2714): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 73 | 0.0137 | 2721 | c.162 others(2740): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2714): Show |
intron_variant | MODIFIER | HG00408.hp1 NA19056.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0318 a0001c0003t0004g0319 |
2 | 4 | 0.5000 | 2721 | c.298 others(2738): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
HSPA9_chr5_138548756_138580401 | 138572247 | T | TTAAAAAC others(2714): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 298 | 0.0034 | 2721 | c.229 others(2738): Show |
HSPA9 | ENSG00000113013.16 | transcript | ENST00000297185.9 | protein_coding | 3/16 | chr5 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133861 | T | TCCTCCCT others(2714): Show |
downstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 225 | 0.0044 | 2721 | c.*24 others(2732): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2149 | chr19 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2714): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0241 | 1 | 49 | 0.0204 | 2721 | c.192 others(2740): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2714): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01256.hp2 HG01358.hp1 others(9): Show |
a0002a0004a0005 | a0002c0002a0004c0004a0005c0005others(1): Show | a0002c0002t0001a0004c0004t0001a0005c0005t0001others(1): Show | a0002c0002t0001g0003 a0002c0002t0001g0116 a0002c0002t0001g0118 others(9): Show |
12 | 60 | 0.2000 | 2721 | c.192 others(2740): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2714): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0083 | 1 | 49 | 0.0204 | 2721 | c.192 others(2740): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954425 | G | GGGAGGGG others(2714): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0054 | 1 | 121 | 0.0083 | 2721 | c.-28 others(2740): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2715): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0206 | 1 | 195 | 0.0051 | 2722 | c.62+ others(2735): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136802875 | T | TGGGGGCC others(2715): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0016 | 1 | 243 | 0.0041 | 2722 | c.666 others(2737): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2715): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0028 | 1 | 3 | 0.3333 | 2722 | c.298 others(2739): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88684236 | A | ATAAATTT others(2715): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0213 | 1 | 3 | 0.3333 | 2722 | c.298 others(2739): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 20/43 | chr14 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586503 | G | GGGGGAAA others(2715): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0130 | 1 | 234 | 0.0043 | 2722 | c.157 others(2739): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HSPA9_chr5_138548756_138580401 | 138572247 | T | TTAAAAAC others(2715): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 298 | 0.0034 | 2722 | c.229 others(2739): Show |
HSPA9 | ENSG00000113013.16 | transcript | ENST00000297185.9 | protein_coding | 3/16 | chr5 | TogoVar |