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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OPA1_chr3_193588208_193702811 | 193636369 | T | TGGCAATT others(1053): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0209 | 1 | 388 | 0.0026 | 1060 | c.949 others(1075): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 9/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1053): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 HG01978.hp1 HG02004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0040 | 3 | 456 | 0.0066 | 1060 | c.*31 others(1071): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1053): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 456 | 0.0022 | 1060 | c.*31 others(1071): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1053): Show |
downstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 456 | 0.0022 | 1060 | c.*31 others(1071): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1053): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00621.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0012others(4): Show | 29 | 456 | 0.0636 | 1060 | c.*31 others(1071): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248408531 | T | TAGATAGC others(1053): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 2 | 266 | 0.0075 | 1060 | c.*14 others(1071): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 512 | chr1 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1053): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0004 | a0001c0004t0027 | a0001c0004t0027g0150 | 1 | 370 | 0.0027 | 1060 | c.438 others(1077): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1290128 | C | CCCCGTGT others(1053): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0009 | 1 | 290 | 0.0035 | 1060 | c.166 others(1077): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(1053): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0168 | 1 | 214 | 0.0047 | 1060 | c.206 others(1079): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747505 | C | TGGGAGGC others(1053): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0198 | 1 | 314 | 0.0032 | 1060 | c.189 others(1075): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121748021 | G | GCTGGGGT others(1053): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0048 | 1 | 314 | 0.0032 | 1060 | c.189 others(1075): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132D_chr12_129066726_129909025 | 129089176 | A | ATGACCGG others(1053): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 94 | 0.0106 | 1060 | c.144 others(1079): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | ||||||
TMEM255B_chr13_113754226_113821995 | 113817348 | C | CCACGGGA others(1053): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0089 | 1 | 260 | 0.0039 | 1060 | c.*54 others(1071): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 354 | chr13 | TogoVar | ||||||
TRAF6_chr11_36478769_36515272 | 36507342 | T | CGTATATA others(1053): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0229 | 1 | 388 | 0.0026 | 1060 | c.-23 others(1077): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1053): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 394 | 0.0025 | 1060 | c.129 others(1077): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1053): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 394 | 0.0025 | 1060 | c.129 others(1077): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1053): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 394 | 0.0025 | 1060 | c.129 others(1077): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1053): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 394 | 0.0025 | 1060 | c.129 others(1077): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1053): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 394 | 0.0025 | 1060 | c.129 others(1077): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1053): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 394 | 0.0025 | 1060 | c.129 others(1077): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1053): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 394 | 0.0025 | 1060 | c.129 others(1077): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1053): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01081.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112a0001c0001t0001g0120a0001c0001t0001g0131 | 3 | 394 | 0.0076 | 1060 | c.129 others(1077): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1053): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00558.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0015others(15): Show | 19 | 394 | 0.0482 | 1060 | c.129 others(1077): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1053): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 394 | 0.0025 | 1060 | c.129 others(1077): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1053): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 394 | 0.0025 | 1060 | c.129 others(1077): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1053): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18954.hp2 NA18963.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0085a0001c0001t0001g0127others(3): Show | 7 | 394 | 0.0178 | 1060 | c.129 others(1077): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1053): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01993.hp2 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0006a0001c0001t0001g0022a0001c0001t0004g0260 | 3 | 394 | 0.0076 | 1060 | c.129 others(1077): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1053): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 394 | 0.0025 | 1060 | c.129 others(1077): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1053): Show |
intron_variant | MODIFIER | HG03540.hp2 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114a0001c0001t0001g0225 | 2 | 394 | 0.0051 | 1060 | c.129 others(1077): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1053): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 | 1 | 394 | 0.0025 | 1060 | c.129 others(1077): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1053): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 394 | 0.0025 | 1060 | c.129 others(1077): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670482 | T | TCCGTGCA others(1053): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0030 | 2 | 394 | 0.0051 | 1060 | c.129 others(1077): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(1053): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0082 | 2 | 167 | 0.0120 | 1060 | c.*53 others(1071): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | ||||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(1053): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0009 | a0002c0009t0006 | a0002c0009t0006g0056 | 1 | 274 | 0.0037 | 1060 | c.*51 others(1071): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | ||||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(1053): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0009 | a0002c0009t0006 | a0002c0009t0006g0057 | 1 | 274 | 0.0037 | 1060 | c.*51 others(1071): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | ||||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(1053): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0063 | 1 | 274 | 0.0037 | 1060 | c.*51 others(1071): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025456 | C | CCATACAC others(1054): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0028 | a0002c0028t0010 | a0002c0028t0010g0014 | 1 | 248 | 0.0040 | 1061 | c.387 others(1080): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687409 | C | CATGACCA others(1054): Show |
upstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 246 | 0.0041 | 1061 | c.-18 others(1072): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1564 | chr8 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1054): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012a0001c0002t0001g0013a0001c0002t0001g0014others(2): Show | 5 | 326 | 0.0153 | 1061 | c.327 others(1078): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1054): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0138 | 1 | 278 | 0.0036 | 1061 | c.328 others(1078): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1054): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0119 | 1 | 276 | 0.0036 | 1061 | c.*52 others(1072): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(1054): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0094 | 1 | 230 | 0.0044 | 1061 | c.724 others(1080): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241694 | A | ACACACAC others(1054): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0032 | a0002c0032t0002 | a0002c0032t0002g0167 | 1 | 183 | 0.0055 | 1061 | c.107 others(1080): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113817317 | T | TCCTCCCC others(1054): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 143 | 0.0070 | 1061 | c.*35 others(1072): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3231 | chr13 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 323690 | G | GTGTGTGT others(1054): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0016 | a0016c0021 | a0016c0021t0003 | a0016c0021t0003g0082 | 1 | 155 | 0.0065 | 1061 | c.-49 others(1072): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4895 | chrX | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1054): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090a0001c0001t0001g0192 | 2 | 350 | 0.0057 | 1061 | c.94- others(1074): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055106 | A | ATAGAGGG others(1054): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0137 | 1 | 236 | 0.0042 | 1061 | c.193 others(1080): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1054): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0095 | 1 | 236 | 0.0042 | 1061 | c.193 others(1080): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432640 | A | AAAGGGAG others(1054): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0093 | 1 | 250 | 0.0040 | 1061 | c.225 others(1078): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189400 | A | ATATTTAT others(1054): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0079 | 1 | 330 | 0.0030 | 1061 | c.-5+ others(1076): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar |