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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB11FIP3_chr16_420649_528011 | 492455 | T | TCCCCGGG others(892): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0019 | a0001c0019t0002 | a0001c0019t0002g0012 | 1 | 269 | 0.0037 | 899 | c.126 others(918): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(892): Show |
intron_variant | MODIFIER | HG03834.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0054 | a0001c0001t0001g0147 a0001c0001t0054g0034 |
2 | 20 | 0.1000 | 899 | c.24+ others(916): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(892): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0230 | 1 | 2 | 0.5000 | 899 | c.438 others(916): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 7147041 | G | GCGATCTC others(892): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0055 | 1 | 7 | 0.1429 | 899 | c.27+ others(916): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SAMD12_chr8_118372984_118626963 | 118469531 | T | TATGATAT others(892): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0188 | 1 | 167 | 0.0060 | 899 | c.193 others(918): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(892): Show |
downstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 | 1 | 149 | 0.0067 | 899 | c.*73 others(910): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(892): Show |
downstream_gene_variant | MODIFIER | NA18941.hp1 NA18952.hp1 NA18960.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0005 others(3): Show |
6 | 154 | 0.0390 | 899 | c.*73 others(910): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161948 | C | CACCCCTG others(892): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 12 | 0.0833 | 899 | c.*22 others(910): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 1980 | chr11 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129828847 | G | GAGGGAGG others(892): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0005 | a0005c0012 | a0005c0012t0003 | a0005c0012t0003g0041 | 1 | 90 | 0.0111 | 899 | c.79+ others(916): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
TNNT3_chr11_1914703_1943702 | 1939626 | C | CACACACA others(892): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 8 | 0.1250 | 899 | c.*11 others(910): Show |
TNNT3 | ENSG00000130595.20 | transcript | ENST00000278317.11 | protein_coding | 925 | chr11 | TogoVar | |||||||
TNNT3_chr11_1914703_1943702 | 1939626 | C | CACACACA others(892): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00558.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 others(21): Show |
33 | 40 | 0.8250 | 899 | c.*11 others(910): Show |
TNNT3 | ENSG00000130595.20 | transcript | ENST00000278317.11 | protein_coding | 925 | chr11 | TogoVar | |||||||
TNNT3_chr11_1914703_1943702 | 1939626 | C | CACACACA others(892): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 8 | 0.1250 | 899 | c.*11 others(910): Show |
TNNT3 | ENSG00000130595.20 | transcript | ENST00000278317.11 | protein_coding | 925 | chr11 | TogoVar | |||||||
TNS1_chr2_217794791_218007995 | 217805592 | C | CCACCACA others(892): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0028 | a0028c0094 | a0028c0094t0078 | a0028c0094t0078g0047 | 1 | 49 | 0.0204 | 899 | c.537 others(916): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 32/32 | chr2 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930685 | G | GGTTAGGG others(892): Show |
downstream_gene_variant | MODIFIER | NA18993.hp1 NA18997.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 2 | 167 | 0.0120 | 899 | c.*49 others(910): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4684 | chr11 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(892): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0148 | 1 | 341 | 0.0029 | 899 | c.-6- others(914): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(892): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0149 | 1 | 341 | 0.0029 | 899 | c.-6- others(914): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370262 | C | CGTGTGTA others(892): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0136 | 1 | 341 | 0.0029 | 899 | c.-6- others(914): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UCN3_chr10_5359966_5379692 | 5370270 | T | TGTGTGTG others(892): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0163 | 1 | 455 | 0.0022 | 899 | c.-6- others(914): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | chr10 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370270 | T | TGTGTGTG others(892): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0098 | 1 | 455 | 0.0022 | 899 | c.-6- others(914): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | chr10 | TogoVar | |||||||
ZNF30_chr19_34921903_34950168 | 34923077 | A | ATATATAA others(892): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0185 | 1 | 302 | 0.0033 | 899 | c.-42 others(910): Show |
ZNF30 | ENSG00000168661.15 | transcript | ENST00000601142.2 | protein_coding | 3825 | chr19 | TogoVar |