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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2780): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 | 1 | 2 | 0.5000 | 2787 | c.44- others(2800): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(2780): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0147 | 1 | 295 | 0.0034 | 2787 | c.522 others(2802): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAG others(2780): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02280.hp2 |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0039a0008c0012t0030 | a0001c0001t0039g0022 a0008c0012t0030g0253 |
2 | 107 | 0.0187 | 2787 | c.353 others(2804): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAG others(2780): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0008 | a0008c0012 | a0008c0012t0030 | a0008c0012t0030g0250 | 1 | 106 | 0.0094 | 2787 | c.353 others(2804): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2780): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0096 | 1 | 4 | 0.2500 | 2787 | c.522 others(2804): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RRAS2_chr11_14272922_14364183 | 14276625 | G | GGAGGGGA others(2780): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 278 | 0.0036 | 2787 | c.*27 others(2798): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1296 | chr11 | TogoVar | |||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2780): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0181 | 1 | 18 | 0.0556 | 2787 | c.372 others(2802): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2780): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0103 | 1 | 18 | 0.0556 | 2787 | c.372 others(2802): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2780): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0174 | 1 | 18 | 0.0556 | 2787 | c.372 others(2802): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2780): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0171 | 1 | 18 | 0.0556 | 2787 | c.372 others(2802): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2780): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0140 | 1 | 18 | 0.0556 | 2787 | c.372 others(2802): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2780): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 18 | 0.0556 | 2787 | c.372 others(2802): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(2781): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0129 | 1 | 295 | 0.0034 | 2788 | c.522 others(2803): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2781): Show |
upstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 284 | 0.0035 | 2788 | c.-17 others(2799): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45703341 | G | GGCCTCCC others(2781): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0084 | 1 | 10 | 0.1000 | 2788 | c.153 others(2807): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45703341 | G | GGCCTCCC others(2781): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01361.hp1 HG02083.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0087 a0002c0002t0001g0095 a0002c0002t0001g0103 others(4): Show |
7 | 16 | 0.4375 | 2788 | c.153 others(2807): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
ITPK1_chr14_92931914_93120925 | 93106218 | C | CAAAGGCT others(2781): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0231 | 1 | 231 | 0.0043 | 2788 | c.95+ others(2803): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 2/10 | chr14 | TogoVar | |||||||
ITPK1_chr14_92931914_93120925 | 93106218 | C | CAAAGGCT others(2781): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0230 | 1 | 231 | 0.0043 | 2788 | c.95+ others(2803): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 2/10 | chr14 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 952855 | C | CCACTCCA others(2781): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0039 | 1 | 281 | 0.0036 | 2788 | c.503 others(2805): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(2781): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 32 | 0.0313 | 2788 | c.241 others(2807): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(2781): Show |
downstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0037 | 1 | 9 | 0.1111 | 2788 | c.*39 others(2799): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(2781): Show |
downstream_gene_variant | MODIFIER | NA18967.hp1 NA18970.hp2 NA18995.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007 | a0001c0002t0003g0001 a0001c0002t0003g0016 a0001c0002t0003g0045 others(3): Show |
6 | 14 | 0.4286 | 2788 | c.*39 others(2799): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2781): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0006 | a0006c0012 | a0006c0012t0002 | a0006c0012t0002g0141 | 1 | 43 | 0.0233 | 2788 | c.-12 others(2809): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 494827 | T | TGGGAGGT others(2781): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 7 | 0.1429 | 2788 | c.126 others(2807): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 494827 | T | TGGGAGGT others(2781): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01516.hp1 HG01981.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010 | a0001c0001t0001g0006 a0001c0001t0001g0140 a0001c0001t0001g0250 others(3): Show |
6 | 12 | 0.5000 | 2788 | c.126 others(2807): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SELENOV_chr19_39510139_39525675 | 39517063 | T | TGCCCAGG others(2781): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0173 | 1 | 434 | 0.0023 | 2788 | c.809 others(2805): Show |
SELENOV | ENSG00000186838.15 | transcript | ENST00000335426.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2781): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 NA18950.hp1 NA18951.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0027 a0001c0001t0001g0154 a0001c0008t0001g0042 |
4 | 6 | 0.6667 | 2788 | c.-28 others(2799): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2781): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 18 | 0.0556 | 2788 | c.372 others(2803): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2781): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0323 | 1 | 18 | 0.0556 | 2788 | c.372 others(2803): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2781): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0045 | 1 | 18 | 0.0556 | 2788 | c.372 others(2803): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SRSF12_chr6_89090959_89123071 | 89097521 | C | CTTTTTTT others(2781): Show |
3_prime_UTR_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0144 | 1 | 373 | 0.0027 | 2788 | c.*10 others(2799): Show |
SRSF12 | ENSG00000154548.9 | transcript | ENST00000452027.3 | protein_coding | 5/5 | 1056 | chr6 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8247735 | T | TTTTTTTT others(2782): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0358 | 1 | 414 | 0.0024 | 2789 | c.-1- others(2804): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GGGGGGGA others(2782): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0303 | 1 | 215 | 0.0047 | 2789 | c.157 others(2804): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2782): Show |
upstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 284 | 0.0035 | 2789 | c.-17 others(2800): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
HPS5_chr11_18273676_18327140 | 18283511 | T | TAAAACAA others(2782): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0224 | 1 | 367 | 0.0027 | 2789 | c.305 others(2806): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 21/22 | chr11 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45703341 | G | GGCCTCCC others(2782): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0121 | 1 | 10 | 0.1000 | 2789 | c.153 others(2808): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45703341 | G | GGCCTCCC others(2782): Show |
intron_variant | MODIFIER | HG02293.hp1 HG03017.hp2 NA18959.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0098 a0002c0002t0001g0113 a0002c0002t0001g0122 others(1): Show |
4 | 13 | 0.3077 | 2789 | c.153 others(2808): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45703341 | G | GGCCTCCC others(2782): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG02293.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088 a0002c0002t0001g0106 a0002c0002t0001g0120 |
3 | 12 | 0.2500 | 2789 | c.153 others(2808): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
ITPK1_chr14_92931914_93120925 | 93106218 | C | CAAAGGCT others(2782): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0228 | 1 | 231 | 0.0043 | 2789 | c.95+ others(2804): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 2/10 | chr14 | TogoVar | |||||||
ITPK1_chr14_92931914_93120925 | 93106218 | C | CAAAGGCT others(2782): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0226 | 1 | 231 | 0.0043 | 2789 | c.95+ others(2804): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 2/10 | chr14 | TogoVar | |||||||
ITPK1_chr14_92931914_93120925 | 93106218 | C | CAAAGGCT others(2782): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01978.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0227 a0001c0001t0006g0234 |
2 | 232 | 0.0086 | 2789 | c.95+ others(2804): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 2/10 | chr14 | TogoVar | |||||||
ITPK1_chr14_92931914_93120925 | 93106218 | C | CAAAGGCT others(2782): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0229 | 1 | 231 | 0.0043 | 2789 | c.95+ others(2804): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 2/10 | chr14 | TogoVar | |||||||
LARP6_chr15_70824130_70859157 | 70850768 | C | CAAAACCT others(2782): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0077 | 1 | 388 | 0.0026 | 2789 | c.200 others(2806): Show |
LARP6 | ENSG00000166173.11 | transcript | ENST00000299213.10 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
MICU1_chr10_72362340_72631079 | 72594390 | C | CAAAAATT others(2782): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 206 | 0.0049 | 2789 | c.-1- others(2806): Show |
MICU1 | ENSG00000107745.20 | transcript | ENST00000361114.10 | protein_coding | 1/11 | chr10 | TogoVar | |||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2782): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 3 | 0.3333 | 2789 | c.-28 others(2800): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2782): Show |
intron_variant | MODIFIER | NA18974.hp2 NA18999.hp1 |
a0002 | a0002c0003a0002c0009 | a0002c0003t0001a0002c0009t0001 | a0002c0003t0001g0249 a0002c0009t0001g0180 |
2 | 19 | 0.1053 | 2789 | c.372 others(2804): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2782): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0165 | 1 | 18 | 0.0556 | 2789 | c.372 others(2804): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2782): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0130 | 1 | 18 | 0.0556 | 2789 | c.372 others(2804): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355671 | G | GGAGGACA others(2783): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 57 | 0.0175 | 2790 | c.757 others(2805): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2783): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272 | 1 | 227 | 0.0044 | 2790 | c.-25 others(2807): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |