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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1151): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 456 | 0.0022 | 1158 | c.*31 others(1169): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1151): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 456 | 0.0022 | 1158 | c.*31 others(1169): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1151): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0074 | 2 | 456 | 0.0044 | 1158 | c.*31 others(1169): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1151): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 NA18612.hp2 NA18945.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0023 | 7 | 456 | 0.0154 | 1158 | c.*31 others(1169): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1151): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 456 | 0.0022 | 1158 | c.*31 others(1169): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1151): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 456 | 0.0022 | 1158 | c.*31 others(1169): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1151): Show |
downstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 456 | 0.0022 | 1158 | c.*31 others(1169): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1151): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02155.hp1 HG02717.hp1 others(1): Show |
a0001a0002a0026 | a0001c0022a0002c0021a0026c0073 | a0001c0022t0001a0002c0021t0004a0026c0073t0005 | a0001c0022t0001g0129a0001c0022t0001g0132a0002c0021t0004g0130others(1): Show | 4 | 134 | 0.0299 | 1158 | c.575 others(1179): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1151): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0008 | a0008c0018 | a0008c0018t0020 | a0008c0018t0020g0074 | 1 | 134 | 0.0075 | 1158 | c.575 others(1179): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1151): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0033 | a0033c0059 | a0033c0059t0008 | a0033c0059t0008g0001 | 1 | 134 | 0.0075 | 1158 | c.575 others(1179): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1151): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0032 | a0032c0058 | a0032c0058t0001 | a0032c0058t0001g0070 | 1 | 134 | 0.0075 | 1158 | c.575 others(1179): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1151): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0009 | a0009c0087 | a0009c0087t0001 | a0009c0087t0001g0111 | 1 | 134 | 0.0075 | 1158 | c.575 others(1179): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398485 | T | TGCGTCAC others(1151): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0023 | 1 | 216 | 0.0046 | 1158 | c.106 others(1175): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | chr11 | TogoVar | ||||||
PNPLA3_chr22_43918805_43952582 | 43928709 | G | GTGCAAAG others(1151): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02071.hp2 HG02300.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0003a0003c0003t0011others(1): Show | a0001c0001t0002g0100a0003c0003t0003g0101a0003c0003t0003g0102others(3): Show | 7 | 420 | 0.0167 | 1158 | c.421 others(1171): Show |
PNPLA3 | ENSG00000100344.11 | transcript | ENST00000216180.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PNPLA3_chr22_43918805_43952582 | 43928709 | G | GTGCAAAG others(1151): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03492.hp2 HG03654.hp2 others(4): Show |
a0003a0006 | a0003c0003a0006c0007 | a0003c0003t0003a0006c0007t0003 | a0003c0003t0003g0087a0003c0003t0003g0221a0003c0003t0003g0224others(4): Show | 7 | 420 | 0.0167 | 1158 | c.421 others(1171): Show |
PNPLA3 | ENSG00000100344.11 | transcript | ENST00000216180.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PRKAG2_chr7_151551127_151882115 | 151855474 | C | CCACACAC others(1151): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01358.hp2 HG01516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0012 | a0001c0001t0002g0062a0001c0001t0004g0221a0001c0001t0012g0224 | 3 | 252 | 0.0119 | 1158 | c.114 others(1177): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(1151): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 375 | 0.0027 | 1158 | c.*44 others(1169): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251202 | A | AACACCAC others(1151): Show |
downstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 1 | 375 | 0.0027 | 1158 | c.*45 others(1169): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3187 | chr10 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273782 | C | CACGACCG others(1151): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18963.hp1 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162a0001c0001t0001g0333a0001c0001t0001g0336 | 3 | 392 | 0.0077 | 1158 | c.228 others(1177): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1151): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0005 | 1 | 256 | 0.0039 | 1158 | c.365 others(1175): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747263 | T | TGGGAGGC others(1151): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0219 | 1 | 314 | 0.0032 | 1158 | c.189 others(1175): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM120B_chr12_121707752_121787068 | 121747269 | G | GCTGGGGT others(1151): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 314 | 0.0032 | 1158 | c.189 others(1175): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TP73_chr1_3647516_3741201 | 3694741 | C | CGCAATCC others(1151): Show |
intron_variant | MODIFIER | HG02293.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0236a0001c0001t0002g0323 | 2 | 358 | 0.0056 | 1158 | c.186 others(1177): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TP73_chr1_3647516_3741201 | 3694741 | C | CGCAATCC others(1151): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0322 | 1 | 358 | 0.0028 | 1158 | c.186 others(1177): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1152): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0042 | 1 | 242 | 0.0041 | 1159 | c.927 others(1176): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCGC others(1152): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0118 | 1 | 150 | 0.0067 | 1159 | c.276 others(1178): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCGC others(1152): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126 | 1 | 150 | 0.0067 | 1159 | c.276 others(1178): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCGC others(1152): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01516.hp1 HG02280.hp1 others(5): Show |
a0001a0004a0006 | a0001c0002a0004c0009a0006c0006 | a0001c0002t0001a0004c0009t0004a0006c0006t0001 | a0001c0002t0001g0063a0001c0002t0001g0092a0001c0002t0001g0110others(5): Show | 8 | 150 | 0.0533 | 1159 | c.276 others(1178): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C2CD4C_chr19_400445_414147 | 410763 | G | GTCCTGGG others(1152): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0128 | a0001c0001t0128g0103 | 1 | 322 | 0.0031 | 1159 | c.-17 others(1170): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1617 | chr19 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939822 | G | GAAAGAAA others(1152): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 258 | 0.0039 | 1159 | c.403 others(1174): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1152): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0177 | 1 | 258 | 0.0039 | 1159 | c.403 others(1174): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320494 | A | AATATAAT others(1152): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0224 | 1 | 236 | 0.0042 | 1159 | c.342 others(1180): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1152): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0044 | 1 | 116 | 0.0086 | 1159 | c.-52 others(1180): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1152): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 116 | 0.0086 | 1159 | c.-52 others(1180): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1152): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0077 | 1 | 116 | 0.0086 | 1159 | c.-52 others(1180): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1152): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01256.hp1 HG01981.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0004g0030a0001c0001t0006g0003a0001c0001t0007g0068others(5): Show | 8 | 116 | 0.0690 | 1159 | c.-52 others(1180): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1152): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0029 | 1 | 116 | 0.0086 | 1159 | c.-52 others(1180): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLHC1_chr2_55167547_55237293 | 55226192 | A | AAAAAAAA others(1152): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0004 | a0001c0004t0020 | a0001c0004t0020g0372 | 1 | 404 | 0.0025 | 1159 | c.-83 others(1176): Show |
CLHC1 | ENSG00000162994.16 | transcript | ENST00000401408.6 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54133808 | C | CTCTCCAC others(1152): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 223 | 0.0045 | 1159 | c.-42 others(1170): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3953 | chr19 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79685061 | G | GGAGTGTG others(1152): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0075 | 1 | 378 | 0.0027 | 1159 | c.314 others(1176): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79685061 | G | GGAGTGTG others(1152): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0072 | 1 | 378 | 0.0027 | 1159 | c.314 others(1176): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 321408 | C | TCAGAGAT others(1152): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02145.hp1 others(4): Show |
a0001a0014a0019 | a0001c0011a0001c0049a0001c0064others(3): Show | a0001c0011t0001a0001c0049t0013a0001c0064t0001others(3): Show | a0001c0011t0001g0024a0001c0011t0001g0025a0001c0049t0013g0219others(4): Show | 7 | 256 | 0.0273 | 1159 | c.828 others(1176): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137669339 | C | CTCACCGA others(1152): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 170 | 0.0059 | 1159 | c.22- others(1176): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 1/26 | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137669339 | C | CTCACCGA others(1152): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01516.hp1 HG01981.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132a0001c0001t0001g0133a0001c0001t0001g0134others(2): Show | 5 | 170 | 0.0294 | 1159 | c.22- others(1176): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 1/26 | chr9 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916109 | T | TATATATA others(1152): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0051 | 1 | 108 | 0.0093 | 1159 | c.648 others(1178): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(1152): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 272 | 0.0037 | 1159 | c.250 others(1174): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432640 | A | AAAGGGAG others(1152): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0109 | 1 | 250 | 0.0040 | 1159 | c.225 others(1176): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1152): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0002 | a0002c0092 | a0002c0092t0004 | a0002c0092t0004g0002 | 1 | 134 | 0.0075 | 1159 | c.575 others(1180): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1152): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02698.hp1 HG03041.hp2 |
a0002a0019a0038 | a0002c0021a0019c0049a0038c0062 | a0002c0021t0004a0019c0049t0001a0038c0062t0002 | a0002c0021t0004g0128a0019c0049t0001g0035a0038c0062t0002g0065 | 3 | 134 | 0.0224 | 1159 | c.575 others(1180): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PNPLA3_chr22_43918805_43952582 | 43928709 | G | GTGCAAAG others(1152): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0104 | 1 | 420 | 0.0024 | 1159 | c.421 others(1172): Show |
PNPLA3 | ENSG00000100344.11 | transcript | ENST00000216180.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |