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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPB41_chr1_28909569_29125041 | 28994950 | G | GCACCCAG others(305): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp1 others(71): Show |
a0001a0005a0008 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(9): Show | a0001c0001t0002g0001 a0001c0001t0002g0043 a0001c0001t0002g0095 others(71): Show |
74 | 312 | 0.2372 | 312 | c.681 others(329): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ERP44_chr9_99974185_100104000 | 100087012 | T | TAAAAAAA others(305): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0078 | 1 | 220 | 0.0046 | 312 | c.57+ others(329): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
ESYT2_chr7_158725997_158834509 | 158730508 | G | GTCAAGGA others(305): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(161): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0020others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(160): Show |
164 | 370 | 0.4432 | 312 | c.*36 others(323): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 488 | chr7 | TogoVar | |||||||
ESYT2_chr7_158725997_158834509 | 158730508 | G | GTCAAGGA others(305): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 370 | 0.0027 | 312 | c.*36 others(323): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 488 | chr7 | TogoVar | |||||||
ESYT2_chr7_158725997_158834509 | 158730508 | G | GTCAAGGA others(305): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 370 | 0.0027 | 312 | c.*36 others(323): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 488 | chr7 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706437 | G | GATACATA others(305): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0004 | a0004c0010 | a0004c0010t0003 | a0004c0010t0003g0023 | 1 | 292 | 0.0034 | 312 | c.228 others(329): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706437 | G | GATACATA others(305): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0004 | a0004c0011 | a0004c0011t0003 | a0004c0011t0003g0186 | 1 | 369 | 0.0027 | 312 | c.-49 others(323): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4763 | chr4 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28055471 | T | TTTTTTTT others(305): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0024 | 1 | 392 | 0.0026 | 312 | c.33+ others(327): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 2/17 | chr1 | TogoVar | |||||||
FAM120B_chr6_170301758_170412067 | 170399793 | A | AGGAAGGT others(305): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0222 | 1 | 289 | 0.0035 | 312 | c.269 others(331): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FAM135B_chr8_138125023_138502261 | 138313722 | T | TAAGATAC others(305): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01515.hp2 HG01517.hp1 |
a0002a0003 | a0002c0002a0003c0001 | a0002c0002t0001a0003c0001t0014 | a0002c0002t0001g0007 a0002c0002t0001g0008 a0003c0001t0014g0019 |
3 | 212 | 0.0142 | 312 | c.78- others(327): Show |
FAM135B | ENSG00000147724.12 | transcript | ENST00000395297.6 | protein_coding | 2/19 | chr8 | TogoVar | |||||||
FAM171A1_chr10_15206643_15376289 | 15229788 | A | ACTATCAC others(305): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01074.hp2 HG03516.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0002 | a0001c0001t0002g0039 a0001c0001t0002g0094 a0002c0002t0001g0149 others(1): Show |
4 | 303 | 0.0132 | 312 | c.755 others(329): Show |
FAM171A1 | ENSG00000148468.17 | transcript | ENST00000378116.9 | protein_coding | 5/7 | chr10 | TogoVar | |||||||
FANCI_chr15_89238979_89322131 | 89287848 | T | TTAAGTTC others(305): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0022 | a0001c0022t0003 | a0001c0022t0003g0013 | 1 | 346 | 0.0029 | 312 | c.182 others(331): Show |
FANCI | ENSG00000140525.20 | transcript | ENST00000310775.12 | protein_coding | 18/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92875311 | T | TAAGATCC others(305): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0014 | a0001c0014t0036 | a0001c0014t0036g0113 | 1 | 118 | 0.0085 | 312 | c.121 others(333): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92875311 | T | TAAGATCC others(305): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0048 | a0048c0056 | a0048c0056t0075 | a0048c0056t0075g0023 | 1 | 118 | 0.0085 | 312 | c.121 others(333): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92875311 | T | TAAGATCC others(305): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01074.hp2 others(23): Show |
a0001a0002a0009others(9): Show | a0001c0006a0001c0035a0001c0051others(16): Show | a0001c0006t0067a0001c0035t0033a0001c0051t0088others(23): Show | a0001c0006t0067g0018 a0001c0035t0033g0068 a0001c0051t0088g0016 others(23): Show |
26 | 118 | 0.2203 | 312 | c.121 others(333): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92875311 | T | TAAGATCC others(305): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0014 | a0001c0014t0034 | a0001c0014t0034g0062 | 1 | 118 | 0.0085 | 312 | c.121 others(333): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FIG4_chr6_109686296_109830426 | 109781773 | C | CAGATTTT others(305): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01109.hp1 HG01123.hp2 others(10): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0004c0008others(1): Show | a0001c0001t0002a0001c0003t0001a0004c0008t0002others(1): Show | a0001c0001t0002g0214 a0001c0001t0002g0234 a0001c0001t0002g0268 others(10): Show |
13 | 370 | 0.0351 | 312 | c.189 others(331): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FILIP1L_chr3_99823811_100119501 | 100091129 | C | CAAAAACT others(305): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03041.hp2 HG03209.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0013a0003c0004t0009 | a0001c0001t0013g0013 a0003c0004t0009g0010 a0003c0004t0009g0011 others(1): Show |
4 | 258 | 0.0155 | 312 | c.-11 others(331): Show |
FILIP1L | ENSG00000168386.19 | transcript | ENST00000477258.2 | protein_coding | 1/5 | chr3 | TogoVar | |||||||
FLT4_chr5_180596506_180654600 | 180635151 | A | AGTATGGG others(305): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 388 | 0.0026 | 312 | c.59- others(327): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | |||||||
FMN1_chr15_32760544_33199714 | 32821096 | T | TCACAGAT others(305): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0005 | a0005c0004 | a0005c0004t0010 | a0005c0004t0010g0175 | 1 | 196 | 0.0051 | 312 | c.392 others(333): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 17/20 | chr15 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46134683 | G | GAGGGTCA others(305): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0189 | 1 | 230 | 0.0044 | 312 | c.*23 others(323): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 2095 | chr21 | TogoVar | |||||||
GALK2_chr15_49165247_49336882 | 49317392 | T | TAAAAAGT others(305): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0153 | 1 | 348 | 0.0029 | 312 | c.968 others(329): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GCNT4_chr5_75020346_75057558 | 75027968 | T | TCCCTTCG others(305): Show |
3_prime_UTR_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0003 | a0003c0003t0060 | a0003c0003t0060g0313 | 1 | 382 | 0.0026 | 312 | c.*70 others(321): Show |
GCNT4 | ENSG00000176928.7 | transcript | ENST00000652361.2 | protein_coding | 4/4 | 707 | chr5 | TogoVar | ||||||
GDF2_chr10_47317454_47332588 | 47319409 | T | TAAATTTT others(305): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01255.hp1 HG01258.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0007 others(2): Show |
26 | 424 | 0.0613 | 312 | c.-32 others(323): Show |
GDF2 | ENSG00000263761.3 | transcript | ENST00000581492.3 | protein_coding | 3044 | chr10 | TogoVar | |||||||
GLIS1_chr1_53501239_53744164 | 53713134 | A | AGGCAACA others(305): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG01106.hp2 others(19): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0004others(14): Show | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0219 others(19): Show |
22 | 236 | 0.0932 | 312 | c.259 others(331): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
GLIS1_chr1_53501239_53744164 | 53713134 | A | AGGCAACA others(305): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01884.hp2 HG02056.hp2 others(3): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0006a0009c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0197 a0001c0001t0002g0134 a0001c0001t0005g0088 others(3): Show |
6 | 236 | 0.0254 | 312 | c.259 others(331): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
GLIS1_chr1_53501239_53744164 | 53713345 | C | CCTCATCT others(305): Show |
intron_variant | MODIFIER | HG03225.hp1 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0010 | a0001c0001t0004g0102 a0002c0002t0010g0103 |
2 | 236 | 0.0085 | 312 | c.259 others(331): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
GLIS1_chr1_53501239_53744164 | 53713440 | C | CAGCCTGG others(305): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02572.hp2 HG02630.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0004a0004c0014 | a0001c0001t0005a0001c0001t0018a0004c0004t0003others(3): Show | a0001c0001t0005g0098 a0001c0001t0018g0212 a0004c0004t0003g0015 others(5): Show |
8 | 236 | 0.0339 | 312 | c.259 others(331): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3876693 | G | GGGAGGAA others(305): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0105 | 1 | 188 | 0.0053 | 312 | c.229 others(331): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3876693 | G | GGGAGGAA others(305): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0176 | 1 | 188 | 0.0053 | 312 | c.229 others(331): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3876693 | G | GGGAGGAA others(305): Show |
intron_variant | MODIFIER | NA18992.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0025 | a0001c0001t0017g0071 a0001c0001t0025g0139 |
2 | 188 | 0.0106 | 312 | c.229 others(331): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3876693 | G | GGGAGGAA others(305): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0188 | 1 | 188 | 0.0053 | 312 | c.229 others(331): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3876693 | G | GGGAGGAA others(305): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0070 | a0001c0001t0019g0015 a0001c0001t0070g0177 |
2 | 188 | 0.0106 | 312 | c.229 others(331): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55032891 | A | ACTCGTTC others(305): Show |
intron_variant | MODIFIER | HG03471.hp1 NA18522.hp1 |
a0008 | a0008c0010 | a0008c0010t0003 | a0008c0010t0003g0379 a0008c0010t0003g0380 |
2 | 441 | 0.0045 | 312 | c.35- others(325): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218085 | C | CCCCCACA others(305): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 NA19064.hp1 |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0016 | a0001c0004t0003g0004 a0001c0004t0016g0004 |
2 | 106 | 0.0189 | 312 | c.*25 others(323): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 916 | chr8 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218085 | C | CCCCCACA others(305): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0004 | a0001c0004t0017 | a0001c0004t0017g0004 | 1 | 106 | 0.0094 | 312 | c.*25 others(323): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 916 | chr8 | TogoVar | |||||||
GPR161_chr1_168074542_168141930 | 168110204 | T | TAATAGAA others(305): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 340 | 0.0029 | 312 | c.-44 others(329): Show |
GPR161 | ENSG00000143147.15 | transcript | ENST00000682931.1 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
GPR161_chr1_168074542_168141930 | 168119275 | T | TATACATA others(305): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0221 | 1 | 340 | 0.0029 | 312 | c.-44 others(331): Show |
GPR161 | ENSG00000143147.15 | transcript | ENST00000682931.1 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
GRID1_chr10_85594552_86371795 | 86016232 | T | TGCCTCCT others(305): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01071.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0016a0001c0001t0040a0001c0002t0001others(11): Show | a0001c0001t0016g0042 a0001c0001t0016g0043 a0001c0001t0040g0008 others(13): Show |
16 | 96 | 0.1667 | 312 | c.727 others(331): Show |
GRID1 | ENSG00000182771.19 | transcript | ENST00000327946.12 | protein_coding | 4/15 | chr10 | TogoVar | |||||||
GRM7_chr3_6856115_7746533 | 7128490 | T | TAAAAATC others(305): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0003t0001a0001c0004t0003others(1): Show | a0001c0001t0003g0012 a0001c0003t0001g0035 a0001c0004t0003g0058 others(1): Show |
4 | 80 | 0.0500 | 312 | c.520 others(331): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GRM8_chr7_126433598_127257941 | 127021337 | G | GGGAAATT others(305): Show |
intron_variant | MODIFIER | HG03453.hp1 NA20300.hp2 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0002 | a0001c0001t0001g0047 a0006c0009t0002g0010 |
2 | 108 | 0.0185 | 312 | c.727 others(331): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 3/10 | chr7 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85653201 | C | CCCTCCCC others(305): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0204 | 1 | 290 | 0.0035 | 312 | c.427 others(329): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GTF2E2_chr8_30573318_30663236 | 30583976 | T | TTTGTATT others(305): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0123 |
4 | 378 | 0.0106 | 312 | c.644 others(329): Show |
GTF2E2 | ENSG00000197265.9 | transcript | ENST00000355904.9 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
HAAO_chr2_42762089_42797583 | 42796927 | G | GCATTTTT others(305): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 410 | 0.0024 | 312 | c.-43 others(323): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 4345 | chr2 | TogoVar | |||||||
HACD3_chr15_65525463_65583349 | 65528273 | T | TAAAAAGT others(305): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0253 | 1 | 328 | 0.0031 | 312 | c.-23 others(323): Show |
HACD3 | ENSG00000074696.13 | transcript | ENST00000261875.10 | protein_coding | 2189 | chr15 | TogoVar | |||||||
HDHD3_chr9_113368422_113381986 | 113377738 | C | CAGTAGCT others(305): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0054 a0001c0001t0003g0108 a0001c0001t0003g0109 |
3 | 464 | 0.0065 | 312 | c.-13 others(323): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 753 | chr9 | TogoVar | |||||||
HDHD3_chr9_113368422_113381986 | 113377738 | C | CAGTAGCT others(305): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(106): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0002c0002t0002others(4): Show | a0001c0001t0002g0008 a0001c0001t0002g0050 a0001c0001t0002g0053 others(20): Show |
109 | 464 | 0.2349 | 312 | c.-13 others(323): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 753 | chr9 | TogoVar | |||||||
HDHD3_chr9_113368422_113381986 | 113377738 | C | CAGTAGCT others(305): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 HG03540.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0002 a0002c0002t0003g0006 |
2 | 464 | 0.0043 | 312 | c.-13 others(323): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 753 | chr9 | TogoVar | |||||||
HDHD3_chr9_113368422_113381986 | 113377738 | C | CAGTAGCT others(305): Show |
upstream_gene_variant | MODIFIER | NA18974.hp1 NA19056.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0011 | 2 | 464 | 0.0043 | 312 | c.-13 others(323): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 753 | chr9 | TogoVar | |||||||
HDHD3_chr9_113368422_113381986 | 113377738 | C | CAGTAGCT others(305): Show |
upstream_gene_variant | MODIFIER | NA18970.hp1 NA19057.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0002 | 2 | 464 | 0.0043 | 312 | c.-13 others(323): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 753 | chr9 | TogoVar |