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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPIC_chr12_101470336_101491997 | 101479266 | G | GAAAGAAA others(11): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 398 | 0.0025 | 18 | c.98- others(31): Show |
SPIC | ENSG00000166211.8 | transcript | ENST00000551346.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47355271 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0057 a0002c0002t0001g0060 a0002c0002t0001g0062 others(3): Show |
6 | 216 | 0.0278 | 18 | c.526 others(37): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47361754 | T | TTAGGGGA others(11): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 216 | 0.0046 | 18 | c.526 others(37): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47565971 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 216 | 0.0046 | 18 | c.109 others(39): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47565992 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG03017.hp1 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0116 |
2 | 216 | 0.0093 | 18 | c.109 others(39): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47565992 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 216 | 0.0046 | 18 | c.109 others(39): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47647616 | A | AAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01074.hp1 HG02015.hp2 others(12): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0012 | a0001c0001t0001a0002c0002t0001a0009c0012t0001 | a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 others(12): Show |
15 | 216 | 0.0694 | 18 | c.154 others(39): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88441398 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02630.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 a0001c0001t0002g0069 |
2 | 176 | 0.0114 | 18 | c.53- others(33): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPIN2B_chrX_57114682_57126548 | 57124300 | G | GGAAATGT others(11): Show |
upstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 322 | 0.0031 | 18 | c.-30 others(29): Show |
SPIN2B | ENSG00000186787.10 | transcript | ENST00000434397.3 | protein_coding | 2753 | chrX | TogoVar | |||||||
SPINDOC_chr11_63808456_63832716 | 63832007 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 392 | 0.0026 | 18 | c.*48 others(29): Show |
SPINDOC | ENSG00000168005.9 | transcript | ENST00000294244.9 | protein_coding | 4292 | chr11 | TogoVar | |||||||
SPINK13_chr5_148263794_148291255 | 148267272 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 376 | 0.0027 | 18 | c.-16 others(29): Show |
SPINK13 | ENSG00000214510.10 | transcript | ENST00000398450.5 | protein_coding | 1521 | chr5 | TogoVar | |||||||
SPINK4_chr9_33235167_33253567 | 33237858 | T | TTGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01109.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0029 others(2): Show |
10 | 378 | 0.0265 | 18 | c.-23 others(29): Show |
SPINK4 | ENSG00000122711.9 | transcript | ENST00000379721.4 | protein_coding | 2308 | chr9 | TogoVar | |||||||
SPINK4_chr9_33235167_33253567 | 33250270 | A | AGCTAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG06807.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0014 a0002c0002t0002g0022 |
6 | 378 | 0.0159 | 18 | c.*17 others(29): Show |
SPINK4 | ENSG00000122711.9 | transcript | ENST00000379721.4 | protein_coding | 1704 | chr9 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148077637 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03139.hp2 NA18906.hp2 others(4): Show |
a0004a0006a0012others(1): Show | a0004c0004a0006c0006a0012c0014others(1): Show | a0004c0004t0002a0006c0006t0002a0012c0014t0002others(1): Show | a0004c0004t0002g0038 a0004c0004t0002g0039 a0006c0006t0002g0012 others(3): Show |
7 | 384 | 0.0182 | 18 | c.282 others(35): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINK5_chr5_148058980_148142382 | 148123511 | C | CCGATTAT others(11): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0308 | 1 | 384 | 0.0026 | 18 | c.253 others(35): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 26/32 | chr5 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148123511 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0051 | 1 | 384 | 0.0026 | 18 | c.253 others(35): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 26/32 | chr5 | TogoVar | |||||||
SPINK6_chr5_148198042_148220137 | 148210007 | C | CATACACA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0016 others(28): Show |
70 | 438 | 0.1598 | 18 | c.82- others(33): Show |
SPINK6 | ENSG00000178172.7 | transcript | ENST00000325630.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINK6_chr5_148198042_148220137 | 148210146 | G | GTATGTAT others(11): Show |
intron_variant | MODIFIER | HG03516.hp2 NA18906.hp1 NA19030.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0194 |
3 | 438 | 0.0069 | 18 | c.82- others(33): Show |
SPINK6 | ENSG00000178172.7 | transcript | ENST00000325630.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINT2_chr19_38259573_38297615 | 38268766 | C | CGCGCGTG others(11): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0327 | 1 | 400 | 0.0025 | 18 | c.106 others(35): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPINT2_chr19_38259573_38297615 | 38268766 | C | CGCGTGTG others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 NA18939.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0050 a0001c0001t0001g0150 a0001c0001t0002g0318 |
3 | 400 | 0.0075 | 18 | c.106 others(35): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPINT2_chr19_38259573_38297615 | 38289484 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0117 a0001c0001t0001g0172 a0001c0001t0003g0207 |
3 | 400 | 0.0075 | 18 | c.391 others(33): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPINT4_chr20_45717347_45730830 | 45724979 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01952.hp2 HG01975.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 a0001c0001t0003g0139 |
4 | 458 | 0.0087 | 18 | c.294 others(33): Show |
SPINT4 | ENSG00000149651.4 | transcript | ENST00000279058.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPINT4_chr20_45717347_45730830 | 45724995 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0133 | 1 | 458 | 0.0022 | 18 | c.294 others(33): Show |
SPINT4 | ENSG00000149651.4 | transcript | ENST00000279058.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPINT4_chr20_45717347_45730830 | 45724995 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0134 | 1 | 458 | 0.0022 | 18 | c.294 others(33): Show |
SPINT4 | ENSG00000149651.4 | transcript | ENST00000279058.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPINT4_chr20_45717347_45730830 | 45724995 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 458 | 0.0022 | 18 | c.294 others(33): Show |
SPINT4 | ENSG00000149651.4 | transcript | ENST00000279058.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPIRE1_chr18_12441512_12663107 | 12526056 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01167.hp2 HG01169.hp2 others(24): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0175 others(24): Show |
27 | 328 | 0.0823 | 18 | c.729 others(35): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 4/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12615327 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0326 | 1 | 328 | 0.0031 | 18 | c.372 others(37): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12615335 | A | AAAAAAAT others(11): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01346.hp2 HG01515.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0176 |
3 | 328 | 0.0092 | 18 | c.372 others(37): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12615335 | A | AAAAATAA others(11): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 328 | 0.0031 | 18 | c.372 others(37): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12615345 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03490.hp2 NA18946.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0127 |
2 | 328 | 0.0061 | 18 | c.372 others(37): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12615345 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02258.hp1 HG03209.hp1 others(4): Show |
a0001a0003a0004 | a0001c0001a0003c0010a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0114 a0001c0001t0002g0080 a0001c0001t0002g0085 others(4): Show |
7 | 328 | 0.0213 | 18 | c.372 others(37): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12615345 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03540.hp1 NA19078.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0162 a0001c0001t0002g0060 a0001c0001t0011g0325 |
3 | 328 | 0.0092 | 18 | c.372 others(37): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12615542 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG01261.hp2 others(31): Show |
a0001a0003a0008 | a0001c0001a0003c0010a0008c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0114 others(31): Show |
34 | 328 | 0.1037 | 18 | c.372 others(37): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12626867 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG01515.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0019 a0001c0001t0014g0020 |
2 | 328 | 0.0061 | 18 | c.372 others(35): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12626886 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 328 | 0.0031 | 18 | c.372 others(35): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89842208 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03579.hp2 NA18967.hp2 |
a0001a0018 | a0001c0001a0018c0017 | a0001c0001t0001a0018c0017t0001 | a0001c0001t0001g0131 a0018c0017t0001g0100 |
2 | 356 | 0.0056 | 18 | c.245 others(35): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0023 | a0001c0023t0012 | a0001c0023t0012g0346 | 1 | 356 | 0.0028 | 18 | c.180 others(35): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01952.hp1 HG02109.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0005 | a0001c0001t0001a0001c0003t0001a0004c0005t0001 | a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0105 others(4): Show |
7 | 356 | 0.0197 | 18 | c.180 others(35): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02148.hp2 HG03239.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0084 a0001c0001t0001g0118 a0001c0001t0001g0291 others(4): Show |
7 | 356 | 0.0197 | 18 | c.180 others(35): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01071.hp1 HG01346.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0013 | a0001c0001t0001g0068 a0001c0001t0001g0087 a0001c0001t0001g0106 others(7): Show |
10 | 356 | 0.0281 | 18 | c.180 others(35): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 a0001c0001t0001g0157 |
2 | 356 | 0.0056 | 18 | c.180 others(35): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869072 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0278 | 1 | 356 | 0.0028 | 18 | c.180 others(35): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPNS2_chr17_4493881_4544035 | 4516316 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0223 | 1 | 404 | 0.0025 | 18 | c.436 others(35): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4441981 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01515.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0003t0002a0001c0006t0001others(3): Show | a0001c0001t0001g0044 a0001c0003t0002g0139 a0001c0003t0002g0140 others(5): Show |
8 | 362 | 0.0221 | 18 | c.265 others(35): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 2/11 | chr17 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4441983 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG01123.hp2 others(10): Show |
a0001a0002a0003 | a0001c0003a0001c0006a0001c0007others(5): Show | a0001c0003t0001a0001c0006t0002a0001c0007t0003others(7): Show | a0001c0003t0001g0154 a0001c0003t0001g0346 a0001c0006t0002g0052 others(10): Show |
13 | 362 | 0.0359 | 18 | c.265 others(35): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4468721 | T | TTCTTTCT others(11): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 362 | 0.0028 | 18 | c.111 others(37): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4468771 | T | TTCTTTCT others(11): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0054 | a0001c0054t0002 | a0001c0054t0002g0063 | 1 | 362 | 0.0028 | 18 | c.111 others(37): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4489532 | C | CCTGACTC others(11): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(126): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(37): Show | a0001c0001t0002a0001c0003t0002a0001c0004t0001others(39): Show | a0001c0001t0002g0037 a0001c0001t0002g0137 a0001c0001t0002g0145 others(126): Show |
129 | 362 | 0.3564 | 18 | c.*16 others(29): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 1329 | chr17 | TogoVar | |||||||
SPN_chr16_29658247_29675876 | 29666552 | A | ACACACAC others(11): Show |
3_prime_UTR_variant | MODIFIER | HG01433.hp2 HG03688.hp2 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0092a0001c0001t0121a0001c0001t0130 | a0001c0001t0092g0001 a0001c0001t0121g0002 a0001c0001t0130g0002 |
3 | 394 | 0.0076 | 18 | c.*16 others(29): Show |
SPN | ENSG00000197471.12 | transcript | ENST00000652691.1 | protein_coding | 2/2 | 1623 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SPOCD1_chr1_31785422_31821022 | 31817120 | A | ATATATAT others(11): Show |
upstream_gene_variant | MODIFIER | NA19011.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0013 | 1 | 260 | 0.0039 | 18 | c.-12 others(29): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 1099 | chr1 | TogoVar |