| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HLA-DRB1_chr6_32573775_32594848 | 32587399 | A | AAATAAAT others(700): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0018 | a0018c0019 | a0018c0019t0003 | a0018c0019t0003g0047 | 1 | 157 | 0.0064 | 707 | c.100 others(724): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
| HOMEZ_chr14_23267422_23291132 | 23280710 | T | TTTTATTT others(700): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0165 | 1 | 207 | 0.0048 | 707 | c.41- others(722): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33322157 | T | TGGAATAT others(700): Show |
upstream_gene_variant | MODIFIER | NA19058.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0204 | 1 | 322 | 0.0031 | 707 | c.-28 others(718): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2812 | chr21 | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33322314 | T | TGCAATAT others(700): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0027 | 1 | 320 | 0.0031 | 707 | c.-27 others(718): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2655 | chr21 | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33323136 | T | TATATATA others(700): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0195 | 1 | 205 | 0.0049 | 707 | c.-19 others(718): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1833 | chr21 | TogoVar | |||||||
| KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(700): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02572.hp2 HG03195.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0004a0001c0001t0006a0004c0009t0051 | a0001c0001t0004g0004 a0001c0001t0006g0005 a0001c0001t0006g0055 others(2): Show |
5 | 9 | 0.5556 | 707 | c.-46 others(718): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
| KHSRP_chr19_6408102_6429811 | 6429379 | A | AGGGAGGT others(700): Show |
upstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 383 | 0.0026 | 707 | c.-46 others(718): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4569 | chr19 | TogoVar | |||||||
| LAMA5_chr20_62304065_62372312 | 62349742 | G | GGTGGGGG others(700): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 170 | 0.0059 | 707 | c.956 others(724): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
| LAMA5_chr20_62304065_62372312 | 62349805 | T | TGGCGGTG others(700): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0040 | a0040c0097 | a0040c0097t0002 | a0040c0097t0002g0087 | 1 | 136 | 0.0074 | 707 | c.956 others(724): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
| LGR6_chr1_202188799_202324761 | 202205150 | C | CCACACAC others(700): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02896.hp1 HG03516.hp1 others(1): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0016 | a0001c0001t0001a0002c0002t0003a0009c0016t0004 | a0001c0001t0001g0252 a0002c0002t0003g0043 a0002c0002t0003g0044 others(1): Show |
4 | 13 | 0.3077 | 707 | c.212 others(726): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| LGR6_chr1_202188799_202324761 | 202205150 | C | CCACACAC others(700): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01081.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0004a0002c0002t0003a0002c0006t0003others(4): Show | a0001c0001t0004g0053 a0001c0001t0004g0083 a0002c0002t0003g0070 others(11): Show |
14 | 23 | 0.6087 | 707 | c.212 others(726): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| LGR6_chr1_202188799_202324761 | 202205150 | C | CCACACAC others(700): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01361.hp1 HG02486.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0002c0002t0002a0003c0004t0001others(1): Show | a0001c0001t0001g0137 a0002c0002t0002g0165 a0003c0004t0001g0109 others(1): Show |
4 | 13 | 0.3077 | 707 | c.212 others(726): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(700): Show |
downstream_gene_variant | MODIFIER | NA18943.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0077 | 1 | 82 | 0.0122 | 707 | c.*23 others(718): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(700): Show |
downstream_gene_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0057 | 1 | 82 | 0.0122 | 707 | c.*23 others(718): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(700): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 HG02004.hp2 HG02015.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0041 | a0001c0001t0006g0016 a0001c0001t0006g0167 a0001c0001t0006g0197 others(2): Show |
7 | 88 | 0.0795 | 707 | c.*23 others(718): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(700): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 82 | 0.0122 | 707 | c.*23 others(718): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(700): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 NA18993.hp1 NA19068.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0023g0107 |
4 | 85 | 0.0471 | 707 | c.*23 others(718): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(700): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0049 | a0001c0001t0009g0018 a0001c0001t0049g0081 |
2 | 83 | 0.0241 | 707 | c.*23 others(718): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(700): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0130 | 1 | 82 | 0.0122 | 707 | c.*23 others(718): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(700): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0030 a0001c0001t0009g0054 |
2 | 83 | 0.0241 | 707 | c.*23 others(718): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
| MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(700): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG01346.hp2 HG03490.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0019a0003c0003t0019 | a0001c0001t0019g0217 a0001c0001t0019g0218 a0003c0003t0019g0219 |
3 | 84 | 0.0357 | 707 | c.*23 others(718): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(700): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 8 | 0.1250 | 707 | c.250 others(722): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
| MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(700): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0074 | 1 | 4 | 0.2500 | 707 | c.114 others(726): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| MYO7A_chr11_77123246_77220241 | 77192977 | G | GCGATGGT others(700): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0052 | 1 | 258 | 0.0039 | 707 | c.415 others(724): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 31/48 | chr11 | TogoVar | |||||||
| NKAIN2_chr6_123798865_124830640 | 124687566 | T | TATATTCC others(700): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0004 | a0002c0004t0017 | a0002c0004t0017g0013 | 1 | 35 | 0.0286 | 707 | c.474 others(726): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136534843 | C | CCCAGTCC others(700): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0144 | 1 | 8 | 0.1250 | 707 | c.140 others(724): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| NXN_chr17_794310_984776 | 948952 | C | CCCCCTGC others(700): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 233 | 0.0043 | 707 | c.360 others(726): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| PARP10_chr8_143972158_143991460 | 143981916 | T | TGGTGGTG others(700): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0071 | 1 | 109 | 0.0092 | 707 | c.255 others(726): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
| PLCXD1_chrX_276381_308356 | 280328 | A | AGGCAGAG others(700): Show |
upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0069 | 1 | 161 | 0.0062 | 707 | c.-13 others(718): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 1052 | chrX | TogoVar | |||||||
| PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(700): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 100 | 0.0100 | 707 | c.907 others(724): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(700): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 a0001c0001t0002g0149 |
2 | 101 | 0.0198 | 707 | c.907 others(724): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(700): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 100 | 0.0100 | 707 | c.907 others(724): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(700): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0154 | 1 | 100 | 0.0100 | 707 | c.907 others(724): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(700): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02622.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0015 | a0001c0001t0001g0296 a0001c0001t0008g0015 a0001c0001t0008g0293 others(3): Show |
8 | 107 | 0.0748 | 707 | c.907 others(724): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| PPP1R7_chr2_241145467_241188652 | 241178692 | C | CGCTCACT others(700): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00609.hp1 others(74): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0001 a0001c0001t0002g0020 a0001c0001t0002g0022 others(48): Show |
77 | 176 | 0.4375 | 707 | c.907 others(724): Show |
PPP1R7 | ENSG00000115685.15 | transcript | ENST00000234038.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGCATGAC others(700): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0010 | a0010c0029 | a0010c0029t0009 | a0010c0029t0009g0177 | 1 | 210 | 0.0048 | 707 | c.227 others(724): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(700): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0214 | 1 | 210 | 0.0048 | 707 | c.227 others(724): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(700): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0100 | 1 | 19 | 0.0526 | 707 | c.24+ others(724): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
| RFX2_chr19_5988164_6115500 | 6070181 | A | ATGGGATG others(700): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0299 a0001c0001t0003g0017 a0001c0001t0003g0018 others(1): Show |
4 | 290 | 0.0138 | 707 | c.-8- others(724): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
| SBNO2_chr19_1102638_1179268 | 1148700 | T | TCCTCCTT others(700): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0015 | 1 | 65 | 0.0154 | 707 | c.167 others(722): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | |||||||
| SBNO2_chr19_1102638_1179268 | 1148929 | T | TCACCCCA others(700): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0193 | 1 | 198 | 0.0051 | 707 | c.167 others(722): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | |||||||
| SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(700): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0030 | 1 | 192 | 0.0052 | 707 | c.89- others(720): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
| SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(700): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 230 | 0.0043 | 707 | c.115 others(724): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
| SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(700): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 230 | 0.0043 | 707 | c.115 others(724): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
| SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(700): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 230 | 0.0043 | 707 | c.115 others(724): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
| SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(700): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0070 | 1 | 40 | 0.0250 | 707 | c.77- others(724): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(700): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0002 | a0002c0002t0027 | a0002c0002t0027g0053 | 1 | 45 | 0.0222 | 707 | c.22+ others(724): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SGK3_chr8_66707781_66867022 | 66772140 | G | GGCTGGAG others(700): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03139.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 a0001c0002t0002g0004 |
2 | 77 | 0.0260 | 707 | c.-12 others(728): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| SGK3_chr8_66707781_66867022 | 66772140 | G | GGCTGGAG others(700): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(37): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(2): Show | a0001c0002t0002g0006 a0001c0002t0002g0011 a0001c0002t0002g0025 others(37): Show |
40 | 115 | 0.3478 | 707 | c.-12 others(728): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| SGK3_chr8_66707781_66867022 | 66772144 | G | GGAGTGCA others(700): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 66 | 0.0152 | 707 | c.-12 others(728): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |