regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DPP6_chr7_154047398_154899285 | 154062984 | T | TTACGATC others(906): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG01071.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0017others(3): Show | a0001c0001t0016a0001c0007t0005a0001c0007t0019others(4): Show | a0001c0001t0016g0005a0001c0007t0005g0038a0001c0007t0019g0037others(4): Show | 7 | 38 | 0.1842 | 913 | c.243 others(930): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | chr7 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154062984 | T | TTACGATC others(906): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0032 | 1 | 38 | 0.0263 | 913 | c.243 others(930): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | chr7 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(906): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0043 | 1 | 46 | 0.0217 | 913 | c.-17 others(932): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(906): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18967.hp2 NA18975.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0181a0001c0001t0007g0191a0001c0001t0007g0192others(1): Show | 4 | 314 | 0.0127 | 913 | c.310 others(928): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(906): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 NA18950.hp2 others(2): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0003a0001c0003t0002g0004a0001c0003t0002g0005others(2): Show | 5 | 314 | 0.0159 | 913 | c.310 others(928): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(906): Show |
intron_variant | MODIFIER | HG01167.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0205a0001c0004t0002g0014 | 2 | 314 | 0.0064 | 913 | c.310 others(928): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(906): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0220 | 1 | 350 | 0.0029 | 913 | c.94- others(926): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(906): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 350 | 0.0029 | 913 | c.94- others(926): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(906): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0025 | 1 | 260 | 0.0039 | 913 | c.125 others(930): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LIG3_chr17_34975512_35014743 | 34977736 | A | AGAAACCC others(906): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 424 | 0.0047 | 913 | c.-28 others(924): Show |
LIG3 | ENSG00000005156.12 | transcript | ENST00000378526.9 | protein_coding | 2775 | chr17 | TogoVar | ||||||
LIG3_chr17_34975512_35014743 | 34977736 | A | AGAAACCC others(906): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02886.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0018 | 4 | 424 | 0.0094 | 913 | c.-28 others(924): Show |
LIG3 | ENSG00000005156.12 | transcript | ENST00000378526.9 | protein_coding | 2775 | chr17 | TogoVar | ||||||
LIG3_chr17_34975512_35014743 | 34977736 | A | AGAAACCC others(906): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(388): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(216): Show | 391 | 424 | 0.9222 | 913 | c.-28 others(924): Show |
LIG3 | ENSG00000005156.12 | transcript | ENST00000378526.9 | protein_coding | 2775 | chr17 | TogoVar | ||||||
LIG3_chr17_34975512_35014743 | 34977736 | A | AGAAACCC others(906): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG02451.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0025 | a0001c0001t0018g0126a0001c0001t0018g0161a0001c0001t0018g0163others(2): Show | 5 | 424 | 0.0118 | 913 | c.-28 others(924): Show |
LIG3 | ENSG00000005156.12 | transcript | ENST00000378526.9 | protein_coding | 2775 | chr17 | TogoVar | ||||||
LIG3_chr17_34975512_35014743 | 34977736 | A | AGAAACCC others(906): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0122 | 1 | 424 | 0.0024 | 913 | c.-28 others(924): Show |
LIG3 | ENSG00000005156.12 | transcript | ENST00000378526.9 | protein_coding | 2775 | chr17 | TogoVar | ||||||
LIG3_chr17_34975512_35014743 | 34977736 | A | AGAAACCC others(906): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014a0001c0001t0004g0192 | 2 | 424 | 0.0047 | 913 | c.-28 others(924): Show |
LIG3 | ENSG00000005156.12 | transcript | ENST00000378526.9 | protein_coding | 2775 | chr17 | TogoVar | ||||||
LIG3_chr17_34975512_35014743 | 34977736 | A | AGAAACCC others(906): Show |
upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 424 | 0.0024 | 913 | c.-28 others(924): Show |
LIG3 | ENSG00000005156.12 | transcript | ENST00000378526.9 | protein_coding | 2775 | chr17 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859118 | G | GGACGGTT others(906): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0004 | a0004c0029 | a0004c0029t0003 | a0004c0029t0003g0203 | 1 | 294 | 0.0034 | 913 | c.153 others(932): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(906): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0130 | 1 | 140 | 0.0071 | 913 | c.133 others(932): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(906): Show |
intron_variant | MODIFIER | NA18950.hp2 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0057 | 2 | 140 | 0.0143 | 913 | c.133 others(932): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(906): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01261.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0007 | a0002c0002t0001g0146a0002c0002t0007g0145 | 2 | 330 | 0.0061 | 913 | c.-5+ others(928): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79494279 | C | CGCCGGGG others(906): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0282 | 1 | 322 | 0.0031 | 913 | c.278 others(932): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
NOTCH1_chr9_136489433_136551048 | 136535645 | T | TCCCGGGG others(906): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0275 | 1 | 324 | 0.0031 | 913 | c.140 others(930): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664492 | T | TCCTCCCC others(906): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0050 | 1 | 326 | 0.0031 | 913 | c.433 others(930): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(906): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096a0001c0001t0001g0101 | 2 | 426 | 0.0047 | 913 | c.273 others(928): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133829 | C | CCCTCCCT others(906): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 227 | 0.0044 | 913 | c.*23 others(924): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2117 | chr19 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(906): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 220 | 0.0046 | 913 | c.24+ others(930): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(906): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG01168.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(3): Show | a0001c0001t0002g0072a0001c0001t0007g0077a0001c0001t0007g0078others(5): Show | 8 | 220 | 0.0364 | 913 | c.24+ others(930): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTACATTA others(906): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 160 | 0.0063 | 913 | c.389 others(934): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTACATTA others(906): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0160 | 1 | 160 | 0.0063 | 913 | c.389 others(934): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RYR1_chr19_38428691_38592564 | 38546744 | G | GAGTTTGA others(906): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01071.hp2 HG01934.hp1 others(8): Show |
a0003a0011 | a0003c0006a0003c0050a0003c0051others(4): Show | a0003c0006t0001a0003c0050t0003a0003c0051t0003others(4): Show | a0003c0006t0001g0045a0003c0006t0001g0057a0003c0006t0001g0114others(8): Show | 11 | 218 | 0.0505 | 913 | c.120 others(932): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RYR1_chr19_38428691_38592564 | 38546744 | G | GAGTTTGA others(906): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0147 | 2 | 218 | 0.0092 | 913 | c.120 others(932): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RYR1_chr19_38428691_38592564 | 38546744 | G | GAGTTTGA others(906): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0107 | 1 | 218 | 0.0046 | 913 | c.120 others(932): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RYR1_chr19_38428691_38592564 | 38546744 | G | GAGTTTGA others(906): Show |
intron_variant | MODIFIER | NA19043.hp2 NA19065.hp2 |
a0004a0012 | a0004c0015a0012c0113 | a0004c0015t0001a0012c0113t0001 | a0004c0015t0001g0098a0012c0113t0001g0195 | 2 | 218 | 0.0092 | 913 | c.120 others(932): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RYR1_chr19_38428691_38592564 | 38546744 | G | GAGTTTGA others(906): Show |
intron_variant | MODIFIER | HG01975.hp2 HG03516.hp1 |
a0001a0028 | a0001c0027a0028c0087 | a0001c0027t0001a0028c0087t0001 | a0001c0027t0001g0030a0028c0087t0001g0023 | 2 | 218 | 0.0092 | 913 | c.120 others(932): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 88/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SENP7_chr3_101319205_101518212 | 101439968 | C | CGGCCAGC others(906): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02970.hp2 |
a0001a0012 | a0001c0003a0012c0016 | a0001c0003t0002a0012c0016t0002 | a0001c0003t0002g0018a0001c0003t0002g0019a0012c0016t0002g0017 | 3 | 370 | 0.0081 | 913 | c.284 others(932): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(906): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0083 | 1 | 370 | 0.0027 | 913 | c.284 others(932): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(906): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0016 | 1 | 370 | 0.0027 | 913 | c.284 others(932): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(906): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0072 | 1 | 370 | 0.0027 | 913 | c.284 others(932): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(906): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0014 | 1 | 370 | 0.0027 | 913 | c.284 others(932): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(906): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0021 | 1 | 370 | 0.0027 | 913 | c.284 others(932): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(906): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0013 | 1 | 370 | 0.0027 | 913 | c.284 others(932): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249340 | G | GAGGATGA others(906): Show |
intron_variant | MODIFIER | HG02572.hp1 NA18522.hp2 |
a0001a0004 | a0001c0007a0004c0038 | a0001c0007t0001a0004c0038t0001 | a0001c0007t0001g0055a0004c0038t0001g0057 | 2 | 214 | 0.0094 | 913 | c.206 others(932): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
SLC66A2_chr18_79897420_79956653 | 79952716 | G | GCGGGTGA others(906): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0323 | 1 | 352 | 0.0028 | 913 | c.-12 others(924): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 1064 | chr18 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(906): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0341 | 1 | 373 | 0.0027 | 913 | c.115 others(930): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(906): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0155 | 1 | 340 | 0.0029 | 913 | c.*17 others(932): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246072010 | G | GTTAGTTC others(906): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0130 | 1 | 150 | 0.0067 | 913 | c.532 others(934): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 641971 | G | GGGGGGGG others(906): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 422 | 0.0024 | 913 | c.*67 others(924): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4643 | chr20 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(906): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239a0001c0001t0001g0241 | 2 | 322 | 0.0062 | 913 | c.597 others(930): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(906): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 322 | 0.0031 | 913 | c.597 others(930): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(906): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02615.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007 | a0001c0001t0003g0035a0001c0001t0006g0085a0001c0001t0007g0082others(1): Show | 4 | 112 | 0.0357 | 913 | c.638 others(928): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |