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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS8_chr3_184807166_185057604 | 184895627 | T | TCCCCCCC others(202): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0221 | 1 | 274 | 0.0037 | 209 | c.200 others(226): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
VPS8_chr3_184807166_185057604 | 184895628 | C | CCCCCCCT others(202): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0202 | 1 | 274 | 0.0037 | 209 | c.200 others(226): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
WDR18_chr19_979345_999557 | 988978 | T | TCCACAAC others(202): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 456 | 0.0022 | 209 | c.322 others(224): Show |
WDR18 | ENSG00000065268.11 | transcript | ENST00000585809.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
WDR64_chr1_241647281_241807777 | 241675055 | T | TCTCCCTC others(202): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0219 | 1 | 326 | 0.0031 | 209 | c.483 others(224): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
WDR64_chr1_241647281_241807777 | 241675073 | G | GCCTCCCT others(202): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0246 | 1 | 326 | 0.0031 | 209 | c.483 others(224): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
WDR87_chr19_37879823_37911594 | 37881047 | A | ATATATAA others(202): Show |
downstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 330 | 0.0030 | 209 | c.*38 others(220): Show |
WDR87 | ENSG00000171804.11 | transcript | ENST00000447313.7 | protein_coding | 3775 | chr19 | TogoVar | ||||||
WDR87_chr19_37879823_37911594 | 37881138 | T | TAATATAT others(202): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 330 | 0.0030 | 209 | c.*37 others(220): Show |
WDR87 | ENSG00000171804.11 | transcript | ENST00000447313.7 | protein_coding | 3684 | chr19 | TogoVar | ||||||
XRCC2_chr7_152639776_152681141 | 152674683 | A | AAATATAT others(202): Show |
intron_variant | MODIFIER | HG03209.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0038 | a0001c0001t0037g0029a0001c0001t0038g0030 | 2 | 394 | 0.0051 | 209 | c.39+ others(224): Show |
XRCC2 | ENSG00000196584.4 | transcript | ENST00000359321.2 | protein_coding | 1/2 | chr7 | TogoVar | ||||||
XRCC2_chr7_152639776_152681141 | 152674705 | T | TATATATA others(202): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 | 1 | 394 | 0.0025 | 209 | c.39+ others(224): Show |
XRCC2 | ENSG00000196584.4 | transcript | ENST00000359321.2 | protein_coding | 1/2 | chr7 | TogoVar | ||||||
ZNF517_chr8_144793913_144815084 | 144811707 | G | GTGGAAGC others(202): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0004 | 1 | 408 | 0.0025 | 209 | c.*33 others(220): Show |
ZNF517 | ENSG00000197363.11 | transcript | ENST00000359971.4 | protein_coding | 1624 | chr8 | TogoVar | ||||||
ZNF517_chr8_144793913_144815084 | 144811707 | G | GTGGAAGC others(202): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02109.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0004 | 6 | 408 | 0.0147 | 209 | c.*33 others(220): Show |
ZNF517 | ENSG00000197363.11 | transcript | ENST00000359971.4 | protein_coding | 1624 | chr8 | TogoVar | ||||||
ZNF517_chr8_144793913_144815084 | 144811707 | G | GTGGAAGC others(202): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0027 | 1 | 408 | 0.0025 | 209 | c.*33 others(220): Show |
ZNF517 | ENSG00000197363.11 | transcript | ENST00000359971.4 | protein_coding | 1624 | chr8 | TogoVar | ||||||
ZNF546_chr19_39992060_40026038 | 39999737 | A | AGCTAATT others(202): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0006 | a0006c0006 | a0006c0006t0025 | a0006c0006t0025g0043 | 1 | 244 | 0.0041 | 209 | c.84+ others(224): Show |
ZNF546 | ENSG00000187187.14 | transcript | ENST00000347077.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABR_chr17_998519_1184981 | 1072355 | G | GTGCCGCC others(203): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02738.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0002g0170a0001c0001t0006g0077a0001c0001t0007g0323others(4): Show | 7 | 337 | 0.0208 | 210 | c.894 others(224): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 8/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1164049 | G | GGGACCCT others(203): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0051 | a0001c0003t0051g0106 | 1 | 337 | 0.0030 | 210 | c.61+ others(227): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1173303 | T | TCCACCCC others(203): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01517.hp1 HG03041.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0016 | a0001c0001t0001g0219a0001c0001t0003g0217a0001c0003t0016g0218 | 3 | 337 | 0.0089 | 210 | c.61+ others(225): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289785 | C | CCGTGTCT others(203): Show |
downstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0034 | 1 | 295 | 0.0034 | 210 | c.*37 others(221): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2605 | chr1 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 77005980 | T | TAATATAC others(203): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0136 | 1 | 346 | 0.0029 | 210 | c.497 others(227): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 77005980 | T | TAATATAC others(203): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 | 1 | 346 | 0.0029 | 210 | c.497 others(227): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 77005980 | T | TAATATAC others(203): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0141 | 1 | 346 | 0.0029 | 210 | c.497 others(227): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38735972 | C | CGGGGCGG others(203): Show |
downstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0261 | 1 | 314 | 0.0032 | 210 | c.*65 others(221): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4384 | chr19 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179337886 | T | TCACACAC others(203): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0006 | a0006c0011 | a0006c0011t0003 | a0006c0011t0003g0185 | 1 | 276 | 0.0036 | 210 | c.534 others(227): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72400327 | T | TATATACA others(203): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01175.hp1 HG02559.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0075a0001c0001t0001g0093a0001c0001t0001g0147others(15): Show | 18 | 182 | 0.0989 | 210 | c.661 others(229): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72400332 | A | ACACACGG others(203): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0003 | a0003c0005 | a0003c0005t0006 | a0003c0005t0006g0151 | 1 | 182 | 0.0055 | 210 | c.661 others(229): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72400778 | C | CATAGATA others(203): Show |
intron_variant | MODIFIER | HG03471.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0071a0001c0001t0019g0033 | 2 | 182 | 0.0110 | 210 | c.661 others(229): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72550081 | G | GGAAGAGG others(203): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0124 | 1 | 182 | 0.0055 | 210 | c.98- others(225): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65230302 | A | ATATATGA others(203): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 204 | 0.0049 | 210 | c.193 others(229): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65230731 | T | TATAATAC others(203): Show |
intron_variant | MODIFIER | HG02602.hp1 NA19079.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0155a0001c0012t0001g0177 | 2 | 204 | 0.0098 | 210 | c.193 others(229): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1340379 | A | ACACCCCA others(203): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02055.hp1 HG02109.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0029a0002c0002t0002a0002c0002t0005others(1): Show | a0001c0001t0029g0031a0002c0002t0002g0043a0002c0002t0002g0067others(3): Show | 6 | 106 | 0.0566 | 210 | c.107 others(231): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1340401 | G | GGCATCCA others(203): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0007 | a0007c0011 | a0007c0011t0034 | a0007c0011t0034g0076 | 1 | 106 | 0.0094 | 210 | c.107 others(231): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1340527 | G | GGCATCCA others(203): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0029 | 1 | 106 | 0.0094 | 210 | c.107 others(231): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1340591 | G | GCCCCACA others(203): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0048 | a0002c0002t0048g0068 | 1 | 106 | 0.0094 | 210 | c.107 others(231): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1340591 | G | GCCCGACA others(203): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0010 | a0010c0009 | a0010c0009t0024 | a0010c0009t0024g0016 | 1 | 106 | 0.0094 | 210 | c.107 others(231): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1340610 | C | CGGCATCC others(203): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00639.hp1 others(24): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0006others(3): Show | a0001c0001t0003a0001c0001t0013a0001c0001t0015others(18): Show | a0001c0001t0003g0085a0001c0001t0003g0097a0001c0001t0003g0102others(24): Show | 27 | 106 | 0.2547 | 210 | c.107 others(231): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1340610 | C | CGGCATCC others(203): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0011 | a0011c0008 | a0011c0008t0016 | a0011c0008t0016g0003 | 1 | 106 | 0.0094 | 210 | c.107 others(231): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1340675 | G | GCCCCACA others(203): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0030 | a0001c0001t0018g0027a0001c0001t0030g0034 | 2 | 106 | 0.0189 | 210 | c.107 others(231): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1340694 | C | CGGCATCC others(203): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02886.hp2 HG02897.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0012a0002c0002t0021others(1): Show | a0001c0001t0001g0045a0001c0001t0001g0065a0001c0001t0012g0024others(2): Show | 5 | 106 | 0.0472 | 210 | c.107 others(231): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1340694 | C | CGGCATCC others(203): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0009 | 1 | 106 | 0.0094 | 210 | c.107 others(231): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111144 | T | TCTCCTAA others(203): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0025 | 1 | 368 | 0.0027 | 210 | c.401 others(227): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111163 | C | CACCTGCC others(203): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02622.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0002a0001c0027 | a0001c0002t0008a0001c0027t0038 | a0001c0002t0008g0016a0001c0002t0008g0019a0001c0002t0008g0021others(2): Show | 5 | 368 | 0.0136 | 210 | c.401 others(227): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111163 | C | CACCTGCC others(203): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0023 | 1 | 368 | 0.0027 | 210 | c.401 others(227): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111163 | C | CACCTGCC others(203): Show |
intron_variant | MODIFIER | HG02922.hp2 NA20129.hp1 |
a0002 | a0002c0007 | a0002c0007t0006 | a0002c0007t0006g0352a0002c0007t0006g0353 | 2 | 368 | 0.0054 | 210 | c.401 others(227): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111179 | G | GCACCTCC others(203): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0006 | a0006c0022 | a0006c0022t0001 | a0006c0022t0001g0056 | 1 | 368 | 0.0027 | 210 | c.401 others(227): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111471 | G | GGACACCT others(203): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0311 | 1 | 368 | 0.0027 | 210 | c.401 others(227): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111541 | A | AACCTGCC others(203): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0055 | 1 | 368 | 0.0027 | 210 | c.401 others(227): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111576 | A | ACCAGACA others(203): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0295 | 1 | 368 | 0.0027 | 210 | c.401 others(227): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111583 | A | AACCTGCC others(203): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0317 | 1 | 368 | 0.0027 | 210 | c.401 others(227): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111709 | C | CACCTGCC others(203): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0245 | 1 | 368 | 0.0027 | 210 | c.401 others(227): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111744 | A | ACCAGACA others(203): Show |
intron_variant | MODIFIER | HG03453.hp2 NA19043.hp1 |
a0001 | a0001c0010 | a0001c0010t0011 | a0001c0010t0011g0049a0001c0010t0011g0050 | 2 | 368 | 0.0054 | 210 | c.401 others(227): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111867 | C | CCCTCCAG others(203): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0322 | 1 | 368 | 0.0027 | 210 | c.401 others(227): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |