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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIF25_chr6_167992671_168050091 | 167997208 | G | GGGGGCGG others(3112): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0003 | a0001c0003t0029 | a0001c0003t0029g0354 | 1 | 304 | 0.0033 | 3119 | c.-22 others(3130): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 462 | chr6 | TogoVar | |||||||
LRCH1_chr13_46548170_46749898 | 46584009 | T | TAGAATAA others(3112): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 248 | 0.0040 | 3119 | c.307 others(3138): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3112): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 5 | 0.2000 | 3119 | c.-12 others(3138): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3112): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 5 | 0.2000 | 3119 | c.-12 others(3138): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3112): Show |
intron_variant | MODIFIER | HG01256.hp2 NA19080.hp2 NA19088.hp1 others(1): Show |
a0001 | a0001c0001a0001c0037 | a0001c0001t0001a0001c0037t0001 | a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0163 others(1): Show |
4 | 8 | 0.5000 | 3119 | c.-12 others(3138): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3112): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0019 | 1 | 5 | 0.2000 | 3119 | c.-12 others(3138): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3112): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 23 | 0.0435 | 3119 | c.284 others(3138): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGGTGGG others(3112): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0121 | 1 | 68 | 0.0147 | 3119 | c.218 others(3136): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 48961527 | T | TAACTTTT others(3113): Show |
intron_variant | MODIFIER | NA18952.hp1 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0328 a0001c0001t0004g0342 |
2 | 323 | 0.0062 | 3120 | c.839 others(3137): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200733 | C | CAGGGTCA others(3113): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0294 | 1 | 278 | 0.0036 | 3120 | c.955 others(3137): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | chr18 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 410763 | G | GTCCTGGG others(3113): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0074 | 1 | 237 | 0.0042 | 3120 | c.-17 others(3131): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1617 | chr19 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(3113): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 194 | 0.0052 | 3120 | c.573 others(3137): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(3113): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0283 | 1 | 194 | 0.0052 | 3120 | c.573 others(3137): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3113): Show |
intron_variant | MODIFIER | NA18952.hp1 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0113 |
2 | 17 | 0.1176 | 3120 | c.164 others(3139): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3113): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0042 | 1 | 8 | 0.1250 | 3120 | c.400 others(3139): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3113): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0049 | 1 | 8 | 0.1250 | 3120 | c.400 others(3139): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3113): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 5 | 0.2000 | 3120 | c.-12 others(3139): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3113): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG01069.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(5): Show | a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0061 others(12): Show |
15 | 19 | 0.7895 | 3120 | c.-12 others(3139): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377335 | T | TCCCCCTC others(3113): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 315 | 0.0032 | 3120 | c.-13 others(3131): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1310 | chr19 | TogoVar | |||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(3113): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0132 | 1 | 19 | 0.0526 | 3120 | c.389 others(3139): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 48961527 | T | TAACTTTT others(3114): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0332 | 1 | 322 | 0.0031 | 3121 | c.839 others(3138): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 48961527 | T | TAACTTTT others(3114): Show |
intron_variant | MODIFIER | NA18954.hp2 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0327 a0001c0001t0004g0333 |
2 | 323 | 0.0062 | 3121 | c.839 others(3138): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 48961527 | T | TAACTTTT others(3114): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0343 | 1 | 322 | 0.0031 | 3121 | c.839 others(3138): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(3114): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 194 | 0.0052 | 3121 | c.573 others(3138): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(3114): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0292 | 1 | 194 | 0.0052 | 3121 | c.573 others(3138): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3114): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0008 | a0008c0016 | a0008c0016t0007 | a0008c0016t0007g0037 | 1 | 217 | 0.0046 | 3121 | c.258 others(3138): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ITPK1_chr14_92931914_93120925 | 93106218 | C | CAAAGGCT others(3114): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0236 | 1 | 231 | 0.0043 | 3121 | c.95+ others(3136): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 2/10 | chr14 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997333 | T | TGGGGCGA others(3114): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0046 | a0002c0002t0046g0337 | 1 | 355 | 0.0028 | 3121 | c.-21 others(3132): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 337 | chr6 | TogoVar | |||||||
LRCH1_chr13_46548170_46749898 | 46584009 | T | TAGAATAA others(3114): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 248 | 0.0040 | 3121 | c.307 others(3140): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
LRCH1_chr13_46548170_46749898 | 46584009 | T | TAGAATAA others(3114): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 248 | 0.0040 | 3121 | c.307 others(3140): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(3114): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 2 | 0.5000 | 3121 | c.125 others(3138): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646118 | A | ACCACTTC others(3114): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0130 | 1 | 158 | 0.0063 | 3121 | c.-35 others(3142): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3114): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18970.hp2 |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0003c0009t0001 | a0001c0001t0001g0171 a0003c0009t0001g0170 |
2 | 6 | 0.3333 | 3121 | c.-12 others(3140): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3114): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 5 | 0.2000 | 3121 | c.-12 others(3140): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3114): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 5 | 0.2000 | 3121 | c.-12 others(3140): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3114): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0067 | 1 | 5 | 0.2000 | 3121 | c.-12 others(3140): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3114): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 5 | 0.2000 | 3121 | c.-12 others(3140): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3114): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0059 |
2 | 6 | 0.3333 | 3121 | c.-12 others(3140): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
VCX3A_chrX_6528618_6540118 | 6532818 | T | TCCTCCCT others(3114): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0047 | 1 | 50 | 0.0200 | 3121 | c.*92 others(3130): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 799 | chrX | TogoVar | |||||||
ARFGEF2_chr20_48916711_49041693 | 48961527 | T | TAACTTTT others(3115): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0334 | 1 | 322 | 0.0031 | 3122 | c.839 others(3139): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFGEF2_chr20_48916711_49041693 | 48961527 | T | TAACTTTT others(3115): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0330 | 1 | 322 | 0.0031 | 3122 | c.839 others(3139): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(3115): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0003 | a0003c0007 | a0003c0007t0004 | a0003c0007t0004g0281 | 1 | 76 | 0.0132 | 3122 | c.955 others(3139): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(3115): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0037 | a0001c0037t0003 | a0001c0037t0003g0104 | 1 | 76 | 0.0132 | 3122 | c.955 others(3139): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(3115): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 a0001c0001t0002g0293 |
2 | 195 | 0.0103 | 3122 | c.573 others(3139): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3115): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 4 | 0.2500 | 3122 | c.115 others(3141): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3115): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 8 | 0.1250 | 3122 | c.400 others(3141): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3115): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 8 | 0.1250 | 3122 | c.400 others(3141): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(3115): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0016 | a0016c0057 | a0016c0057t0015 | a0016c0057t0015g0274 | 1 | 217 | 0.0046 | 3122 | c.258 others(3139): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163273 | C | CCCTCCAC others(3115): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0175 | 1 | 262 | 0.0038 | 3122 | c.258 others(3139): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ITPK1_chr14_92931914_93120925 | 93106218 | C | CAAAGGCT others(3115): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237 | 1 | 231 | 0.0043 | 3122 | c.95+ others(3137): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 2/10 | chr14 | TogoVar |