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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(3981): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 50 | 0.0200 | 3988 | c.147 others(4005): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325131 | C | CCTTCCTT others(3981): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 76 | 0.0132 | 3988 | c.125 others(4005): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(3982): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 3 | 0.3333 | 3989 | c.*14 others(4000): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126947414 | A | ATGGTGGT others(3982): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0025 | a0001c0025t0002 | a0001c0025t0002g0025 | 1 | 118 | 0.0085 | 3989 | c.47- others(4006): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(3982): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0005 | 1 | 25 | 0.0400 | 3989 | c.206 others(4010): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7835707 | C | CGGGCTGC others(3983): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0291 | 1 | 307 | 0.0033 | 3990 | c.726 others(4007): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7835707 | C | CGGGCTGC others(3983): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03195.hp2 |
a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0268 a0001c0002t0034g0292 |
2 | 308 | 0.0065 | 3990 | c.726 others(4007): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(3983): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0050 | 1 | 94 | 0.0106 | 3990 | c.206 others(4009): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1222702 | T | TGCAGTGA others(3983): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0186 | 1 | 171 | 0.0058 | 3990 | c.719 others(4009): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(3984): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 9 | 0.1111 | 3991 | c.642 others(4008): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3987): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 8 | 0.1250 | 3994 | c.723 others(4011): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3987): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 8 | 0.1250 | 3994 | c.-45 others(4003): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(3989): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 55 | 0.0182 | 3996 | c.891 others(4011): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(3989): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 3 | 0.3333 | 3996 | c.*14 others(4007): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(3989): Show |
downstream_gene_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 144 | 0.0069 | 3996 | c.*17 others(4007): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(3989): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0066 | 1 | 2 | 0.5000 | 3996 | c.126 others(4013): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(3989): Show |
downstream_gene_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 172 | 0.0058 | 3996 | c.*22 others(4007): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(3989): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 62 | 0.0161 | 3996 | c.*53 others(4007): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241748 | A | ACACACAC others(3990): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0038 | 1 | 71 | 0.0141 | 3997 | c.107 others(4016): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3990): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0013 | a0013c0107 | a0013c0107t0001 | a0013c0107t0001g0147 | 1 | 8 | 0.1250 | 3997 | c.723 others(4014): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(3991): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0137 | 1 | 254 | 0.0039 | 3998 | c.109 others(4013): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137328244 | C | CATGATGA others(3992): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0024 | a0024c0036 | a0024c0036t0001 | a0024c0036t0001g0003 | 1 | 75 | 0.0133 | 3999 | c.199 others(4018): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar |