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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GTPBP6_chrX_299759_323796 | 323550 | G | GTGTGTGT others(2868): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0012 | 1 | 148 | 0.0068 | 2875 | c.-47 others(2886): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4755 | chrX | TogoVar | |||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(2868): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 233 | 0.0043 | 2875 | c.-91 others(2896): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(2868): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0076 | a0076c0126 | a0076c0126t0001 | a0076c0126t0001g0065 | 1 | 31 | 0.0323 | 2875 | c.956 others(2892): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 20971694 | T | TCATTAAA others(2868): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0003 | a0003c0009 | a0003c0009t0016 | a0003c0009t0016g0305 | 1 | 293 | 0.0034 | 2875 | c.*31 others(2886): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 1341 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 20971694 | T | TCATTAAA others(2868): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02280.hp2 others(7): Show |
a0002a0003 | a0002c0028a0003c0007a0003c0008others(1): Show | a0002c0028t0041a0003c0007t0008a0003c0007t0036others(2): Show | a0002c0028t0041g0280 a0003c0007t0008g0046 a0003c0007t0008g0047 others(7): Show |
10 | 302 | 0.0331 | 2875 | c.*31 others(2886): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 1341 | chr13 | TogoVar | |||||||
LATS2_chr13_20968036_21066586 | 20971694 | T | TCATTAAA others(2868): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG01433.hp2 HG01884.hp1 others(8): Show |
a0003a0004 | a0003c0007a0003c0008a0003c0009others(2): Show | a0003c0007t0016a0003c0008t0009a0003c0008t0046others(6): Show | a0003c0007t0016g0060 a0003c0008t0009g0088 a0003c0008t0009g0292 others(8): Show |
11 | 303 | 0.0363 | 2875 | c.*31 others(2886): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 1341 | chr13 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 585487 | C | CCTTTCCA others(2868): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 192 | 0.0052 | 2875 | c.215 others(2892): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2868): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0071 | 1 | 274 | 0.0036 | 2875 | c.130 others(2892): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
TPO_chr2_1408463_1548673 | 1525660 | C | CCCCCCCA others(2868): Show |
intron_variant | MODIFIER | NA18998.hp2 NA18999.hp1 |
a0003a0010 | a0003c0003a0010c0010 | a0003c0003t0001a0010c0010t0002 | a0003c0003t0001g0045 a0010c0010t0002g0067 |
2 | 5 | 0.4000 | 2875 | c.261 others(2894): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1525660 | C | CCCCCCCA others(2868): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 4 | 0.2500 | 2875 | c.261 others(2894): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2869): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0206 | 1 | 288 | 0.0035 | 2876 | c.96+ others(2891): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2869): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0075 | 1 | 166 | 0.0060 | 2876 | c.173 others(2897): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2869): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0157 | 1 | 166 | 0.0060 | 2876 | c.173 others(2897): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1099475 | A | AGAGAGAG others(2869): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0282 a0001c0001t0003g0283 |
2 | 216 | 0.0093 | 2876 | c.-13 others(2895): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1099475 | A | AGAGAGAG others(2869): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 215 | 0.0047 | 2876 | c.-13 others(2895): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227186809 | T | TATAAATA others(2869): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0220 | 1 | 341 | 0.0029 | 2876 | c.87+ others(2893): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137328267 | A | AAACACCC others(2869): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0032 | 1 | 73 | 0.0137 | 2876 | c.199 others(2895): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 953033 | A | ACACCCAC others(2869): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 174 | 0.0057 | 2876 | c.503 others(2893): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
TPO_chr2_1408463_1548673 | 1525660 | C | CCCCCCCA others(2869): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0127 | 1 | 4 | 0.2500 | 2876 | c.261 others(2895): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
WWTR1_chr3_149512235_149663025 | 149660775 | A | ACACATTT others(2869): Show |
upstream_gene_variant | MODIFIER | NA19079.hp2 | a0002 | a0002c0003 | a0002c0003t0029 | a0002c0003t0029g0012 | 1 | 330 | 0.0030 | 2876 | c.-30 others(2887): Show |
WWTR1 | ENSG00000018408.15 | transcript | ENST00000360632.8 | protein_coding | 2751 | chr3 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2870): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0105 | 1 | 166 | 0.0060 | 2877 | c.173 others(2898): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2870): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0130 | 1 | 166 | 0.0060 | 2877 | c.173 others(2898): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(2870): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0043 | a0001c0043t0002 | a0001c0043t0002g0119 | 1 | 129 | 0.0078 | 2877 | c.280 others(2898): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(2870): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0087 | 1 | 233 | 0.0043 | 2877 | c.-91 others(2898): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2870): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0077 | 1 | 274 | 0.0036 | 2877 | c.130 others(2894): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2870): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01192.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0063 others(2): Show |
5 | 7 | 0.7143 | 2877 | c.-28 others(2888): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC5A5_chr19_17866945_17900174 | 17900147 | T | TGAAAAAT others(2870): Show |
downstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 412 | 0.0024 | 2877 | c.*62 others(2888): Show |
SLC5A5 | ENSG00000105641.4 | transcript | ENST00000222248.4 | protein_coding | 4974 | chr19 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870545 | A | ACACAAAC others(2870): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 320 | 0.0031 | 2877 | c.*35 others(2896): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586503 | G | GGGGGAAA others(2871): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 | 1 | 234 | 0.0043 | 2878 | c.157 others(2895): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859094 | G | GGACGGGT others(2871): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0271 | 1 | 185 | 0.0054 | 2878 | c.153 others(2897): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2871): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0126 | 1 | 70 | 0.0143 | 2878 | c.742 others(2895): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126948184 | A | ATGGTGGT others(2872): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0037 | a0001c0037t0002 | a0001c0037t0002g0117 | 1 | 48 | 0.0208 | 2879 | c.47- others(2896): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(2872): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0005 | a0001c0005t0026 | a0001c0005t0026g0030 | 1 | 189 | 0.0053 | 2879 | c.440 others(2896): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1525660 | C | CCCCCCCA others(2872): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 4 | 0.2500 | 2879 | c.261 others(2898): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
WWTR1_chr3_149512235_149663025 | 149660775 | A | ACACATTT others(2872): Show |
upstream_gene_variant | MODIFIER | NA18985.hp2 | a0002 | a0002c0003 | a0002c0003t0018 | a0002c0003t0018g0005 | 1 | 330 | 0.0030 | 2879 | c.-30 others(2890): Show |
WWTR1 | ENSG00000018408.15 | transcript | ENST00000360632.8 | protein_coding | 2751 | chr3 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46293954 | T | TCAGCCAC others(2872): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0370 | 1 | 277 | 0.0036 | 2879 | c.340 others(2896): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ASH1L_chr1_155330268_155567803 | 155503502 | C | CAAAAGTG others(2873): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 179 | 0.0056 | 2880 | c.420 others(2899): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2/27 | chr1 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2873): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 2 | 0.5000 | 2880 | c.44- others(2893): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CTCTCTCC others(2873): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0025 | 1 | 8 | 0.1250 | 2880 | c.400 others(2899): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | chr2 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATATA others(2873): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0005 | a0001c0005t0013 | a0001c0005t0013g0098 | 1 | 271 | 0.0037 | 2880 | c.-21 others(2891): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | |||||||
MED16_chr19_862963_898187 | 871891 | C | CGGGGAGA others(2873): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 6 | 0.1667 | 2880 | c.209 others(2895): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195783335 | C | CACCTGTG others(2873): Show |
conservative_inframe_insertion | MODERATE | HG02486.hp1 | a0066 | a0066c0118 | a0066c0118t0004 | a0066c0118t0004g0229 | 1 | 216 | 0.0046 | 2880 | c.824 others(2889): Show |
p.Gly others(2895): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8356/16756 | 8244/16239 | 2748/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2873): Show |
conservative_inframe_insertion | MODERATE | HG02040.hp1 | a0007 | a0007c0100 | a0007c0100t0001 | a0007c0100t0001g0111 | 1 | 129 | 0.0078 | 2880 | c.381 others(2889): Show |
p.Ser others(2895): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | |||
SDK1_chr7_3296252_4274000 | 3977040 | C | CCACGCAG others(2873): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0071 | a0001c0071t0057 | a0001c0071t0057g0031 | 1 | 48 | 0.0208 | 2880 | c.199 others(2899): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(2873): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 62 | 0.0161 | 2880 | c.*53 others(2891): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
INTS9_chr8_28762661_28894969 | 28859021 | T | TGAAAATA others(2874): Show |
intron_variant | MODIFIER | HG02486.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0308 |
2 | 356 | 0.0056 | 2881 | c.137 others(2896): Show |
INTS9 | ENSG00000104299.15 | transcript | ENST00000521022.6 | protein_coding | 2/16 | chr8 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2874): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0082 |
2 | 4 | 0.5000 | 2881 | c.-28 others(2892): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2874): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 4 | 0.5000 | 2881 | c.-28 others(2892): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SNPH_chr20_1261294_1314327 | 1301962 | A | ATTTCTAA others(2874): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0298 | 1 | 323 | 0.0031 | 2881 | c.440 others(2898): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1301962 | A | ATTTCTAA others(2874): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01361.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008 | a0001c0001t0002g0166 a0001c0001t0003g0018 a0001c0001t0003g0093 others(3): Show |
7 | 329 | 0.0213 | 2881 | c.440 others(2898): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |