regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TAF11L9_chr5_17588798_17599394 | 17598414 | T | TCTCCCAC others(2700): Show |
upstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 112 | 0.0089 | 2707 | c.-40 others(2718): Show |
TAF11L9 | ENSG00000283988.1 | transcript | ENST00000639969.1 | protein_coding | 4021 | chr5 | TogoVar | ||||||
ZSCAN22_chr19_58321994_58347332 | 58323670 | T | TAAAGAAG others(2700): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0133 | 1 | 400 | 0.0025 | 2707 | c.-34 others(2718): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 3323 | chr19 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(2701): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0008 | a0008c0024 | a0008c0024t0001 | a0008c0024t0001g0306 | 1 | 332 | 0.0030 | 2708 | c.179 others(2723): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2701): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 345 | 0.0029 | 2708 | c.*17 others(2719): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2701): Show |
downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 345 | 0.0029 | 2708 | c.*17 others(2719): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2701): Show |
downstream_gene_variant | MODIFIER | HG02148.hp1 HG02148.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0052 | 2 | 345 | 0.0058 | 2708 | c.*17 others(2719): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2701): Show |
downstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 421 | 0.0024 | 2708 | c.*22 others(2719): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2701): Show |
downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 421 | 0.0024 | 2708 | c.*22 others(2719): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2701): Show |
downstream_gene_variant | MODIFIER | HG02148.hp1 HG02148.hp2 |
a0001a0030 | a0001c0001a0030c0037 | a0001c0001t0001a0030c0037t0001 | a0001c0001t0001g0029a0030c0037t0001g0029 | 2 | 421 | 0.0048 | 2708 | c.*22 others(2719): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586499 | C | CAGTGGGG others(2701): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0041 | 1 | 308 | 0.0033 | 2708 | c.157 others(2725): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364417 | G | GCTTACAC others(2701): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 290 | 0.0035 | 2708 | c.129 others(2725): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PI4KA_chr22_20702691_20863811 | 20848237 | C | CAAAAAAA others(2701): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 334 | 0.0030 | 2708 | c.157 others(2725): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 1/54 | chr22 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133807 | C | CCTCTCCA others(2701): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 227 | 0.0044 | 2708 | c.*23 others(2719): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2095 | chr19 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2701): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0235 | 1 | 362 | 0.0028 | 2708 | c.192 others(2727): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2701): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0009 | a0009c0007 | a0009c0007t0003 | a0009c0007t0003g0028 | 1 | 362 | 0.0028 | 2708 | c.192 others(2727): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2701): Show |
intron_variant | MODIFIER | HG02300.hp1 HG04204.hp2 HG04228.hp2 others(11): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0003a0001c0001t0016a0002c0002t0001others(2): Show | a0001c0001t0003g0038a0001c0001t0003g0039a0001c0001t0003g0124others(11): Show | 14 | 362 | 0.0387 | 2708 | c.192 others(2727): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2701): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0354 | 1 | 362 | 0.0028 | 2708 | c.192 others(2727): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2701): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0378a0001c0001t0002g0380 | 2 | 410 | 0.0049 | 2708 | c.-20 others(2727): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2701): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0291 | 1 | 410 | 0.0024 | 2708 | c.-20 others(2727): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2701): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 410 | 0.0024 | 2708 | c.-20 others(2727): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2701): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 410 | 0.0024 | 2708 | c.-20 others(2727): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2701): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 410 | 0.0024 | 2708 | c.-20 others(2727): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2701): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 410 | 0.0024 | 2708 | c.-20 others(2727): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2701): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0117 | 1 | 410 | 0.0024 | 2708 | c.-20 others(2727): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2701): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 410 | 0.0024 | 2708 | c.-20 others(2727): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2701): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 410 | 0.0024 | 2708 | c.-20 others(2727): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2701): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 410 | 0.0024 | 2708 | c.-20 others(2727): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2701): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0341 | 1 | 410 | 0.0024 | 2708 | c.-20 others(2727): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2701): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0278 | 1 | 410 | 0.0024 | 2708 | c.-20 others(2727): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2701): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0377 | 1 | 410 | 0.0024 | 2708 | c.-20 others(2727): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2701): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0004 | a0004c0004 | a0004c0004t0039 | a0004c0004t0039g0091 | 1 | 264 | 0.0038 | 2708 | c.742 others(2725): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2701): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0081 | a0002c0002t0081g0257 | 1 | 264 | 0.0038 | 2708 | c.742 others(2725): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2701): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0003 | a0003c0003 | a0003c0003t0050 | a0003c0003t0050g0082 | 1 | 264 | 0.0038 | 2708 | c.742 others(2725): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2701): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0233 | 1 | 264 | 0.0038 | 2708 | c.742 others(2725): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2701): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0236 | 1 | 264 | 0.0038 | 2708 | c.742 others(2725): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2701): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0012 | a0003c0012t0004 | a0003c0012t0004g0231 | 1 | 264 | 0.0038 | 2708 | c.742 others(2725): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2701): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0115 | 1 | 264 | 0.0038 | 2708 | c.742 others(2725): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2701): Show |
intron_variant | MODIFIER | HG01258.hp2 NA19012.hp2 NA19087.hp2 |
a0001a0005a0006 | a0001c0001a0005c0005a0006c0006 | a0001c0001t0066a0005c0005t0004a0006c0006t0002 | a0001c0001t0066g0107a0005c0005t0004g0097a0006c0006t0002g0113 | 3 | 264 | 0.0114 | 2708 | c.742 others(2725): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2701): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03130.hp2 HG03579.hp1 others(2): Show |
a0001a0005a0006 | a0001c0001a0005c0005a0006c0006 | a0001c0001t0023a0005c0005t0004a0005c0005t0035others(2): Show | a0001c0001t0023g0013a0005c0005t0004g0022a0005c0005t0035g0161others(2): Show | 5 | 264 | 0.0189 | 2708 | c.742 others(2725): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2701): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0199 | 1 | 264 | 0.0038 | 2708 | c.742 others(2725): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2701): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0016 | a0002c0016t0005 | a0002c0016t0005g0196 | 1 | 264 | 0.0038 | 2708 | c.742 others(2725): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2702): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0010 | a0010c0020 | a0010c0020t0001 | a0010c0020t0001g0170 | 1 | 268 | 0.0037 | 2709 | c.62+ others(2722): 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(2702): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0003 | a0003c0004 | a0003c0004t0053 | a0003c0004t0053g0198 | 1 | 268 | 0.0037 | 2709 | c.62+ others(2722): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(2702): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0008 | a0001c0008t0018 | a0001c0008t0018g0141 | 1 | 390 | 0.0026 | 2709 | c.109 others(2724): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399423 | A | ACCACCAC others(2702): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0162 | 1 | 314 | 0.0032 | 2709 | c.-25 others(2726): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | chr2 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432129 | T | TAGGGTGG others(2702): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0004 | 2 | 376 | 0.0053 | 2709 | c.101 others(2726): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2702): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0355 | 1 | 410 | 0.0024 | 2709 | c.-20 others(2728): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SLC25A18_chr22_17558498_17595995 | 17577684 | C | CATTCTCC others(2702): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 410 | 0.0024 | 2709 | c.-20 others(2728): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2702): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0009 | a0009c0008 | a0009c0008t0010 | a0009c0008t0010g0121 | 1 | 264 | 0.0038 | 2709 | c.742 others(2726): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2702): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0247 | 1 | 264 | 0.0038 | 2709 | c.742 others(2726): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar |