view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(886): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01081.hp1 HG01175.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0172 others(1): Show |
4 | 99 | 0.0404 | 893 | c.119 others(912): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(886): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0251 | 1 | 10 | 0.1000 | 893 | c.310 others(908): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 322499 | A | AAAAAAAA others(886): Show |
upstream_gene_variant | MODIFIER | NA19064.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0092 | 1 | 104 | 0.0096 | 893 | c.-37 others(904): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3704 | chrX | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(886): Show |
upstream_gene_variant | MODIFIER | NA19087.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0203 | 1 | 204 | 0.0049 | 893 | c.-36 others(904): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(886): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0211 | 1 | 204 | 0.0049 | 893 | c.-36 others(904): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(886): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0015 | a0002c0015t0029 | a0002c0015t0029g0209 | 1 | 213 | 0.0047 | 893 | c.258 others(910): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163304 | C | CCCTCCCT others(886): Show |
intron_variant | MODIFIER | HG01106.hp1 HG03471.hp1 |
a0003 | a0003c0010 | a0003c0010t0016 | a0003c0010t0016g0250 a0003c0010t0016g0258 |
2 | 114 | 0.0175 | 893 | c.258 others(910): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(886): Show |
intron_variant | MODIFIER | NA19065.hp1 NA19067.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 a0001c0001t0001g0275 a0001c0001t0001g0276 |
3 | 7 | 0.4286 | 893 | c.-41 others(908): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055106 | A | ATAGAGGG others(886): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0034 | 1 | 160 | 0.0063 | 893 | c.193 others(912): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
MADCAM1_chr19_491486_510343 | 496853 | G | GGGGGCGC others(886): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0013 | a0013c0022 | a0013c0022t0001 | a0013c0022t0001g0263 | 1 | 109 | 0.0092 | 893 | c.52+ others(906): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(886): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0241 | 1 | 6 | 0.1667 | 893 | c.100 others(912): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(886): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 125 | 0.0080 | 893 | c.-49 others(904): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(886): Show |
upstream_gene_variant | MODIFIER | NA18967.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0074 | 1 | 125 | 0.0080 | 893 | c.-49 others(904): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(886): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | 1 | 125 | 0.0080 | 893 | c.-49 others(904): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(886): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0109 | 1 | 125 | 0.0080 | 893 | c.-49 others(904): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(886): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0035 | 1 | 3 | 0.3333 | 893 | c.-12 others(912): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158667329 | G | GCTCCTTA others(886): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328 | 1 | 122 | 0.0082 | 893 | c.148 others(912): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(886): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0141 | 1 | 4 | 0.2500 | 893 | c.279 others(908): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(886): Show |
intron_variant | MODIFIER | HG01070.hp1 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 a0001c0001t0002g0137 |
2 | 3 | 0.6667 | 893 | c.734 others(910): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(886): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 233 | 0.0043 | 893 | c.117 others(910): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167969 | T | TCTCCCCT others(886): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 228 | 0.0044 | 893 | c.306 others(912): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492397 | C | CGGGAGAC others(886): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0048 | 1 | 268 | 0.0037 | 893 | c.126 others(912): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(886): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0133 | 1 | 19 | 0.0526 | 893 | c.24+ others(910): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RGPD8_chr2_112363369_112438645 | 112432885 | T | TCCGCCTC others(886): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02145.hp2 HG02258.hp1 others(4): Show |
a0006a0013 | a0006c0007a0013c0014 | a0006c0007t0006a0006c0007t0013a0013c0014t0006 | a0006c0007t0006g0231 a0006c0007t0006g0233 a0006c0007t0006g0236 others(4): Show |
7 | 205 | 0.0341 | 893 | c.72+ others(906): Show |
RGPD8 | ENSG00000169629.12 | transcript | ENST00000302558.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130641415 | A | ATCACGGG others(886): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0033 | a0002c0033t0008 | a0002c0033t0008g0166 | 1 | 172 | 0.0058 | 893 | c.-35 others(914): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 356244 | C | CACTTACT others(886): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG03453.hp2 HG03516.hp1 |
a0001a0007 | a0001c0001a0007c0014 | a0001c0001t0003a0001c0001t0017a0007c0014t0018 | a0001c0001t0003g0101 a0001c0001t0017g0099 a0007c0014t0018g0102 |
3 | 83 | 0.0361 | 893 | c.-37 others(904): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3438 | chr17 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1142161 | A | ACTCAATG others(886): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18906.hp2 |
a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0079 a0001c0011t0001g0104 |
2 | 8 | 0.2500 | 893 | c.279 others(910): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GAAGGAAG others(886): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0006 | a0002c0006t0018 | a0002c0006t0018g0221 | 1 | 42 | 0.0238 | 893 | c.916 others(910): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(886): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0217 | 1 | 42 | 0.0238 | 893 | c.916 others(910): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(886): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG02451.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0007others(1): Show | a0001c0002t0005a0001c0002t0048a0001c0004t0011others(3): Show | a0001c0002t0005g0210 a0001c0002t0005g0211 a0001c0002t0048g0100 others(4): Show |
7 | 48 | 0.1458 | 893 | c.916 others(910): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(886): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0215 | 1 | 42 | 0.0238 | 893 | c.916 others(910): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(886): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02602.hp2 HG02630.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0024a0001c0004t0011a0001c0004t0016others(1): Show | a0001c0002t0024g0121 a0001c0004t0011g0175 a0001c0004t0016g0063 others(1): Show |
4 | 45 | 0.0889 | 893 | c.916 others(910): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(886): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0089 | 1 | 42 | 0.0238 | 893 | c.916 others(910): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(886): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02083.hp1 HG04184.hp1 |
a0001a0002 | a0001c0002a0002c0006a0002c0016 | a0001c0002t0002a0002c0006t0001a0002c0016t0021 | a0001c0002t0002g0027 a0002c0006t0001g0152 a0002c0016t0021g0051 |
3 | 44 | 0.0682 | 893 | c.916 others(910): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(886): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01975.hp1 NA18942.hp1 others(5): Show |
a0001a0002a0009 | a0001c0002a0002c0006a0002c0010others(2): Show | a0001c0002t0056a0002c0006t0018a0002c0010t0003others(2): Show | a0001c0002t0056g0281 a0002c0006t0018g0222 a0002c0010t0003g0165 others(5): Show |
8 | 49 | 0.1633 | 893 | c.916 others(910): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(886): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0268 | 1 | 42 | 0.0238 | 893 | c.916 others(910): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402144 | A | ACCCCCGC others(886): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 220 | 0.0045 | 893 | c.*37 others(904): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3571 | chr11 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 965362 | T | TCCCCAAT others(886): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0068 | 1 | 100 | 0.0100 | 893 | c.72+ others(910): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(886): Show |
downstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0060 | 1 | 149 | 0.0067 | 893 | c.*73 others(904): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(886): Show |
downstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0041 | 1 | 149 | 0.0067 | 893 | c.*73 others(904): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
TCEA3_chr1_23375909_23429748 | 23392445 | A | AATACACA others(886): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01192.hp1 HG01256.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0293 a0001c0001t0002g0313 a0001c0001t0002g0314 |
3 | 4 | 0.7500 | 893 | c.819 others(910): Show |
TCEA3 | ENSG00000204219.11 | transcript | ENST00000450454.7 | protein_coding | 8/10 | chr1 | TogoVar | |||||||
TCEA3_chr1_23375909_23429748 | 23392445 | A | AATACACA others(886): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0166 a0001c0001t0002g0178 a0001c0001t0002g0181 others(1): Show |
4 | 5 | 0.8000 | 893 | c.819 others(910): Show |
TCEA3 | ENSG00000204219.11 | transcript | ENST00000450454.7 | protein_coding | 8/10 | chr1 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377496 | T | TGTGTGCC others(886): Show |
upstream_gene_variant | MODIFIER | NA19078.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0264 | 1 | 263 | 0.0038 | 893 | c.-15 others(904): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1471 | chr19 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948575 | G | GGGGCGTG others(886): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 a0001c0001t0001g0064 |
2 | 339 | 0.0059 | 893 | c.114 others(910): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5369891 | G | GTGTGTAT others(886): Show |
intron_variant | MODIFIER | NA19001.hp2 NA19005.hp2 NA19081.hp1 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0365 a0002c0002t0005g0366 a0002c0002t0005g0367 |
3 | 410 | 0.0073 | 893 | c.-6- others(908): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(886): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0146 | 1 | 341 | 0.0029 | 893 | c.-6- others(908): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(886): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0106 | 1 | 341 | 0.0029 | 893 | c.-6- others(908): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(887): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 201 | 0.0050 | 894 | c.130 others(913): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113418984 | C | CTCCCTCC others(887): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0216 | 1 | 241 | 0.0041 | 894 | c.106 others(913): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(887): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 82 | 0.0122 | 894 | c.106 others(913): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar |