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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(3112): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 2 | 342 | 0.0059 | 3119 | c.573 others(3136): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(3112): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 342 | 0.0029 | 3119 | c.573 others(3136): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3112): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 280 | 0.0036 | 3119 | c.115 others(3138): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(3112): Show |
intron_variant | MODIFIER | HG03710.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106a0001c0001t0002g0108 | 2 | 280 | 0.0071 | 3119 | c.115 others(3138): 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(3112): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0047 | 1 | 264 | 0.0038 | 3119 | c.400 others(3138): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
INSYN2B_chr5_169856303_169985495 | 169949686 | T | TTTTTTTT others(3112): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 318 | 0.0031 | 3119 | c.-91 others(3140): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997208 | G | GGGGGCGG others(3112): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0003 | a0001c0003t0029 | a0001c0003t0029g0354 | 1 | 375 | 0.0027 | 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 | 274 | 0.0037 | 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 | a0001c0001t0001g0143 | 1 | 203 | 0.0049 | 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 | 203 | 0.0049 | 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 | a0001c0001t0001g0146a0001c0001t0001g0149a0001c0001t0001g0165others(1): Show | 4 | 203 | 0.0197 | 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 | 203 | 0.0049 | 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 | 158 | 0.0063 | 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 | a0001c0009t0006 | a0001c0009t0006g0118 | 1 | 344 | 0.0029 | 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 | a0001c0001t0004g0328a0001c0001t0004g0342 | 2 | 352 | 0.0057 | 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 | a0001c0006t0004g0293 | 1 | 298 | 0.0034 | 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 | 322 | 0.0031 | 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 | a0001c0001t0002g0227 | 1 | 342 | 0.0029 | 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 | a0001c0001t0003g0298 | 1 | 342 | 0.0029 | 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 | a0001c0001t0001g0053a0001c0001t0001g0111 | 2 | 175 | 0.0114 | 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 | 264 | 0.0038 | 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 | 264 | 0.0038 | 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 | a0001c0001t0001g0026 | 1 | 203 | 0.0049 | 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 |
a0000a0001a0002others(1): Show | a0000c0009a0001c0001a0001c0002others(5): Show | a0000c0009t0001a0001c0001t0001a0001c0002t0001others(5): Show | a0000c0009t0001g0172a0001c0001t0001g0032a0001c0001t0001g0133others(12): Show | 15 | 203 | 0.0739 | 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 | a0001c0001t0002g0035 | 1 | 370 | 0.0027 | 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 | a0001c0002t0032g0131 | 1 | 272 | 0.0037 | 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 | 352 | 0.0028 | 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 | a0001c0001t0004g0327a0001c0001t0004g0333 | 2 | 352 | 0.0057 | 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 | 352 | 0.0028 | 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 | a0001c0001t0002g0228 | 1 | 342 | 0.0029 | 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 | a0001c0001t0002g0309 | 1 | 342 | 0.0029 | 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 | 282 | 0.0036 | 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 | 243 | 0.0041 | 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 | a0002c0002t0046g0338 | 1 | 375 | 0.0027 | 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 | 274 | 0.0037 | 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 | 274 | 0.0037 | 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 | 80 | 0.0125 | 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 | 180 | 0.0056 | 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 |
a0000a0001 | a0000c0009a0001c0001 | a0000c0009t0001a0001c0001t0001 | a0000c0009t0001g0169a0001c0001t0001g0170 | 2 | 203 | 0.0099 | 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 | a0001c0002t0001g0130 | 1 | 203 | 0.0049 | 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 | a0001c0001t0001g0164 | 1 | 203 | 0.0049 | 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 | a0001c0034t0001g0148 | 1 | 203 | 0.0049 | 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 | a0001c0001t0001g0134 | 1 | 203 | 0.0049 | 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 | a0001c0001t0001g0129a0001c0001t0001g0141 | 2 | 203 | 0.0099 | 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 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0049 | 1 | 74 | 0.0135 | 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 | 352 | 0.0028 | 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 | 352 | 0.0028 | 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 | a0003c0007t0004g0282 | 1 | 298 | 0.0034 | 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 | 298 | 0.0034 | 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 | a0001c0001t0002g0164a0001c0001t0002g0310 | 2 | 342 | 0.0059 | 3122 | c.573 others(3139): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar |