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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMEM120B_chr12_121707752_121787068 | 121747310 | C | CTGGGGTA others(2089): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0102 | 1 | 314 | 0.0032 | 2096 | c.189 others(2113): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035489 | C | CCTGCTCC others(2090): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 337 | 0.0030 | 2097 | c.179 others(2118): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2090): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0005a0002c0005t0001 | a0001c0001t0005g0278a0002c0005t0001g0186 | 2 | 337 | 0.0059 | 2097 | c.179 others(2118): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2090): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0320 | 1 | 337 | 0.0030 | 2097 | c.179 others(2118): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCCA others(2090): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0125 | 1 | 337 | 0.0030 | 2097 | c.179 others(2118): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2090): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 334 | 0.0030 | 2097 | c.147 others(2114): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DDX51_chr12_132131594_132149319 | 132148890 | A | ACCTCGGT others(2090): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0004 | 1 | 334 | 0.0030 | 2097 | c.-45 others(2108): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4572 | chr12 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126947980 | G | GTGGTGGT others(2090): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0015 | 1 | 136 | 0.0074 | 2097 | c.47- others(2114): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTTC others(2090): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0130 | 1 | 400 | 0.0025 | 2097 | c.-5+ others(2110): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399335 | C | CATCACCA others(2090): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0179 | 1 | 314 | 0.0032 | 2097 | c.-25 others(2114): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2090): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0211 | 1 | 292 | 0.0034 | 2097 | c.218 others(2112): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17876901 | G | GGGAGGTT others(2090): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 274 | 0.0037 | 2097 | c.224 others(2116): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877099 | G | GGGAAGTT others(2090): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0102 | 1 | 274 | 0.0037 | 2097 | c.224 others(2116): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877493 | T | TAGGGAAG others(2090): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0016 | a0002c0016t0002 | a0002c0016t0002g0235 | 1 | 274 | 0.0037 | 2097 | c.224 others(2116): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(2090): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0152 | 1 | 223 | 0.0045 | 2097 | c.289 others(2114): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132148890 | A | ACCTCGGT others(2090): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0004 | a0004c0031 | a0004c0031t0001 | a0004c0031t0001g0063 | 1 | 294 | 0.0034 | 2097 | c.901 others(2110): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196811306 | T | TTCCCTCC others(2090): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 178 | 0.0056 | 2097 | c.773 others(2112): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PNPLA7_chr9_137454952_137555402 | 137502703 | C | CGGGGACG others(2090): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 188 | 0.0053 | 2097 | c.147 others(2114): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATA others(2090): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 | 1 | 432 | 0.0023 | 2097 | c.-20 others(2108): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492460 | G | GGGAGACC others(2090): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0076 | 1 | 295 | 0.0034 | 2097 | c.126 others(2116): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RPEL1_chr10_103240887_103253016 | 103250992 | T | TCCACCAT others(2090): Show |
downstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2097 | c.*43 others(2108): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 2977 | chr10 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432156 | C | CAGGGTGG others(2090): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0015 | 1 | 376 | 0.0027 | 2097 | c.101 others(2114): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGCC others(2090): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0011 | a0001c0011t0020 | a0001c0011t0020g0025 | 1 | 373 | 0.0027 | 2097 | c.115 others(2114): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
TBCB_chr19_36110468_36130941 | 36126419 | C | CAAAAAAA others(2090): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 448 | 0.0022 | 2097 | c.*63 others(2106): Show |
TBCB | ENSG00000105254.12 | transcript | ENST00000221855.8 | protein_coding | 479 | chr19 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2091): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 337 | 0.0030 | 2098 | c.179 others(2119): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72209198 | C | CTCCTTCC others(2091): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0001 | 1 | 142 | 0.0070 | 2098 | c.244 others(2117): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185063 | C | CCCTTCTC others(2091): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0018 | a0018c0095 | a0018c0095t0008 | a0018c0095t0008g0167 | 1 | 174 | 0.0058 | 2098 | c.193 others(2117): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LMF1_chr16_848634_975984 | 859790 | G | GAGTGGTG others(2091): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0244 | 1 | 294 | 0.0034 | 2098 | c.153 others(2117): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
PEMT_chr17_17500563_17596708 | 17581463 | T | TAAAAATG others(2091): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 348 | 0.0029 | 2098 | c.97- others(2113): Show |
PEMT | ENSG00000133027.18 | transcript | ENST00000255389.10 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2091): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02970.hp2 HG03486.hp2 |
a0017a0057 | a0017c0015a0057c0046 | a0017c0015t0011a0057c0046t0011 | a0017c0015t0011g0199a0017c0015t0011g0200a0057c0046t0011g0201 | 3 | 216 | 0.0139 | 2098 | c.801 others(2115): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136802944 | G | GGGGGCCC others(2092): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0177 | 1 | 398 | 0.0025 | 2099 | c.666 others(2114): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2092): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0065 | 1 | 104 | 0.0096 | 2099 | c.354 others(2118): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2092): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0275 | 1 | 364 | 0.0028 | 2099 | c.445 others(2114): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2092): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 168 | 0.0060 | 2099 | c.206 others(2120): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PARP10_chr8_143972158_143991460 | 143981315 | G | GTGATGGT others(2092): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0060 | 1 | 380 | 0.0026 | 2099 | c.255 others(2118): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2092): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG02647.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0039a0001c0001t0087a0001c0001t0108 | a0001c0001t0039g0174a0001c0001t0087g0145a0001c0001t0108g0173 | 3 | 302 | 0.0099 | 2099 | c.*39 others(2110): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2092): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0245 | 1 | 302 | 0.0033 | 2099 | c.*39 others(2110): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2092): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 302 | 0.0033 | 2099 | c.*39 others(2110): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2092): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 302 | 0.0033 | 2099 | c.*39 others(2110): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2092): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0134 | a0001c0002t0134g0267 | 1 | 302 | 0.0033 | 2099 | c.*39 others(2110): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2092): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0209 | 1 | 302 | 0.0033 | 2099 | c.*39 others(2110): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATA others(2092): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 | 1 | 432 | 0.0023 | 2099 | c.-20 others(2110): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATA others(2092): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 | 1 | 432 | 0.0023 | 2099 | c.-20 others(2110): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492460 | G | GGGAGACC others(2092): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0089 | 1 | 295 | 0.0034 | 2099 | c.126 others(2118): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACAP3_chr1_1287391_1312930 | 1290127 | C | CCCCCGTG others(2093): Show |
downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 295 | 0.0034 | 2100 | c.*34 others(2111): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2263 | chr1 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111954 | T | TCCAGACA others(2093): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0290 | 1 | 368 | 0.0027 | 2100 | c.401 others(2117): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803080 | G | GGGGGCCC others(2093): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0056 | 1 | 398 | 0.0025 | 2100 | c.666 others(2115): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL23A1_chr5_178232618_178595393 | 178525019 | C | CGGCTAAG others(2093): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0141 | 1 | 236 | 0.0042 | 2100 | c.361 others(2119): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178525130 | A | AGGACCCG others(2093): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03540.hp2 |
a0001a0002 | a0001c0021a0002c0003 | a0001c0021t0006a0002c0003t0002 | a0001c0021t0006g0234a0002c0003t0002g0097 | 2 | 236 | 0.0085 | 2100 | c.361 others(2119): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCCTC others(2093): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0145 | 1 | 158 | 0.0063 | 2100 | c.*11 others(2121): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar |