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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CYGB_chr17_76522356_76542709 | 76526839 | C | CACCCTTG others(103): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0095a0001c0001t0004g0102 | 2 | 396 | 0.0051 | 110 | c.*17 others(121): Show |
CYGB | ENSG00000161544.10 | transcript | ENST00000293230.10 | protein_coding | 516 | chr17 | TogoVar | ||||||
CYP20A1_chr2_203234018_203311026 | 203251793 | G | GTACATAT others(103): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0301 | 1 | 334 | 0.0030 | 110 | c.290 others(125): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CYP20A1_chr2_203234018_203311026 | 203251815 | A | ATATATAT others(103): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0233 | 1 | 334 | 0.0030 | 110 | c.290 others(125): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CYP4F11_chr19_15907377_15939529 | 15912733 | G | GTATATGT others(103): Show |
3_prime_UTR_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01433.hp2 |
a0002 | a0002c0001 | a0002c0001t0059a0002c0001t0154 | a0002c0001t0059g0344a0002c0001t0059g0345a0002c0001t0154g0347 | 3 | 386 | 0.0078 | 110 | c.*99 others(119): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 12/12 | 998 | chr19 | TogoVar | |||||
CYP4F11_chr19_15907377_15939529 | 15912761 | G | GTATATAT others(103): Show |
3_prime_UTR_variant | MODIFIER | NA18971.hp1 | a0002 | a0002c0001 | a0002c0001t0172 | a0002c0001t0172g0363 | 1 | 386 | 0.0026 | 110 | c.*97 others(119): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 12/12 | 970 | chr19 | TogoVar | |||||
CYP4F11_chr19_15907377_15939529 | 15912761 | G | GTATATAT others(103): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0001 | a0002c0001t0168 | a0002c0001t0168g0360 | 1 | 386 | 0.0026 | 110 | c.*97 others(119): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 12/12 | 970 | chr19 | TogoVar | |||||
CYP4F11_chr19_15907377_15939529 | 15912761 | G | GTATATAT others(103): Show |
3_prime_UTR_variant | MODIFIER | HG03669.hp2 HG03834.hp1 |
a0002 | a0002c0001 | a0002c0001t0056 | a0002c0001t0056g0325a0002c0001t0056g0326 | 2 | 386 | 0.0052 | 110 | c.*97 others(119): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 12/12 | 970 | chr19 | TogoVar | |||||
CYP4F11_chr19_15907377_15939529 | 15912771 | G | GTGTGTAT others(103): Show |
3_prime_UTR_variant | MODIFIER | HG02630.hp2 | a0004 | a0004c0007 | a0004c0007t0188 | a0004c0007t0188g0206 | 1 | 386 | 0.0026 | 110 | c.*96 others(119): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 12/12 | 960 | chr19 | TogoVar | |||||
CYP4F11_chr19_15907377_15939529 | 15912771 | G | GTGTGTAT others(103): Show |
3_prime_UTR_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0001 | a0002c0001t0083 | a0002c0001t0083g0055 | 1 | 386 | 0.0026 | 110 | c.*96 others(119): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 12/12 | 960 | chr19 | TogoVar | |||||
CYP4F11_chr19_15907377_15939529 | 15912771 | G | GTGTGTAT others(103): Show |
3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02135.hp1 HG02602.hp2 others(3): Show |
a0002a0004 | a0002c0001a0004c0007 | a0002c0001t0180a0002c0001t0181a0002c0001t0182others(3): Show | a0002c0001t0180g0350a0002c0001t0181g0331a0002c0001t0182g0364others(3): Show | 6 | 386 | 0.0155 | 110 | c.*96 others(119): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 12/12 | 960 | chr19 | TogoVar | |||||
CYP4F11_chr19_15907377_15939529 | 15912771 | G | GTGTGTAT others(103): Show |
3_prime_UTR_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0001 | a0002c0001t0174 | a0002c0001t0174g0203 | 1 | 386 | 0.0026 | 110 | c.*96 others(119): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 12/12 | 960 | chr19 | TogoVar | |||||
CYTH3_chr7_6156779_6277624 | 6259794 | T | TATAATAT others(103): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0312a0001c0001t0006g0313 | 2 | 348 | 0.0058 | 110 | c.34+ others(127): Show |
CYTH3 | ENSG00000008256.17 | transcript | ENST00000350796.8 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
CYTH3_chr7_6156779_6277624 | 6259794 | T | TATAATAT others(103): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0321 | 1 | 348 | 0.0029 | 110 | c.34+ others(127): Show |
CYTH3 | ENSG00000008256.17 | transcript | ENST00000350796.8 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
CYTH3_chr7_6156779_6277624 | 6259796 | T | TATTATAT others(103): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0316 | 1 | 348 | 0.0029 | 110 | c.34+ others(127): Show |
CYTH3 | ENSG00000008256.17 | transcript | ENST00000350796.8 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241751964 | G | GGGGAGCC others(103): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0004 | a0004c0005 | a0004c0005t0014 | a0004c0005t0014g0103 | 1 | 412 | 0.0024 | 110 | c.114 others(127): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DAPK1_chr9_87492867_87713634 | 87606582 | T | TTCCTTCC others(103): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01884.hp1 HG01891.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0006a0002c0015others(6): Show | a0001c0001t0001a0002c0006t0001a0002c0015t0006others(9): Show | a0001c0001t0001g0028a0001c0001t0001g0190a0001c0001t0001g0196others(16): Show | 19 | 236 | 0.0805 | 110 | c.284 others(127): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DBNDD1_chr16_89999871_90024456 | 90003326 | T | TGGGACTT others(103): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG01123.hp2 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017a0001c0001t0019 | a0001c0001t0002g0034a0001c0001t0017g0247a0001c0001t0019g0248 | 3 | 412 | 0.0073 | 110 | c.*30 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1544 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003491 | T | TGGGACTT others(103): Show |
downstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 412 | 0.0024 | 110 | c.*28 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1379 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003501 | A | ATGACTCC others(103): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 412 | 0.0024 | 110 | c.*28 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1369 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003509 | C | CTCCCCCG others(103): Show |
downstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0278 | 1 | 412 | 0.0024 | 110 | c.*28 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1361 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003509 | C | CTCCCCCG others(103): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01943.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0009others(5): Show | 14 | 412 | 0.0340 | 110 | c.*28 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1361 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003589 | A | ATGCACGT others(103): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 412 | 0.0024 | 110 | c.*27 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1281 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003589 | A | ATGCACGT others(103): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0275 | 1 | 412 | 0.0024 | 110 | c.*27 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1281 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003611 | G | GTGACTCC others(103): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 412 | 0.0024 | 110 | c.*27 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1259 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003711 | C | CGGGACTT others(103): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 412 | 0.0024 | 110 | c.*26 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1159 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003766 | C | CGGGACTT others(103): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 412 | 0.0024 | 110 | c.*25 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1104 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003790 | T | TGGCCCGG others(103): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 412 | 0.0024 | 110 | c.*25 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1080 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003809 | G | GTGCACGT others(103): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 412 | 0.0024 | 110 | c.*25 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1061 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003821 | C | CGGGACTT others(103): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 412 | 0.0024 | 110 | c.*25 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1049 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003845 | C | CAGCCTGG others(103): Show |
downstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 412 | 0.0024 | 110 | c.*24 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1025 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003845 | C | CGGCCCGG others(103): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG02523.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021a0001c0002t0001g0061 | 2 | 412 | 0.0049 | 110 | c.*24 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1025 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003845 | C | CGGCCCGG others(103): Show |
downstream_gene_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 412 | 0.0024 | 110 | c.*24 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1025 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003845 | C | CGGCCCGG others(103): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 412 | 0.0024 | 110 | c.*24 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1025 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003874 | G | GGTGGGAC others(103): Show |
downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 412 | 0.0024 | 110 | c.*24 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 996 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003965 | C | CACCTTTA others(103): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 412 | 0.0024 | 110 | c.*23 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 905 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003986 | C | CGGGACTT others(103): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 412 | 0.0024 | 110 | c.*23 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 884 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90004015 | C | CGGGCCAC others(103): Show |
downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 412 | 0.0024 | 110 | c.*23 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 855 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90004041 | C | CGGGACTT others(103): Show |
downstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0175 | 1 | 412 | 0.0024 | 110 | c.*22 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 829 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90004369 | G | GGTGGGAC others(103): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 412 | 0.0024 | 110 | c.*19 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 501 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90004369 | G | GGTGGGAC others(103): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0125a0001c0001t0005g0126 | 2 | 412 | 0.0049 | 110 | c.*19 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 501 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90004400 | C | CGGGCCAC others(103): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0104a0001c0001t0006g0175 | 2 | 412 | 0.0049 | 110 | c.*19 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 470 | chr16 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90004424 | G | GGTGGGAC others(103): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 412 | 0.0024 | 110 | c.*19 others(121): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 446 | chr16 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24220873 | A | AGAGACAG others(103): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01978.hp2 NA18948.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0007 | a0002c0002t0003g0013a0002c0002t0003g0063a0002c0002t0003g0110others(4): Show | 7 | 216 | 0.0324 | 110 | c.923 others(129): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24220873 | A | AGAGACAG others(103): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG04204.hp2 |
a0002 | a0002c0002a0002c0011 | a0002c0002t0007a0002c0002t0017a0002c0011t0006 | a0002c0002t0007g0182a0002c0002t0017g0014a0002c0011t0006g0124 | 3 | 216 | 0.0139 | 110 | c.923 others(129): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24220873 | A | AGAGACAG others(103): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 HG02976.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0058a0003c0003t0005g0139a0003c0003t0005g0141others(3): Show | 6 | 216 | 0.0278 | 110 | c.923 others(129): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168297382 | G | GAAAGAAA others(103): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0222 | 1 | 270 | 0.0037 | 110 | c.724 others(127): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 690266 | C | CAGGAGAG others(103): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18961.hp1 NA19064.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0256a0001c0002t0001g0262a0002c0005t0001g0261others(1): Show | 4 | 345 | 0.0116 | 110 | c.387 others(127): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 2/11 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 690296 | G | GAGGGCAG others(103): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18966.hp2 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283a0001c0001t0001g0284a0001c0001t0001g0285 | 3 | 345 | 0.0087 | 110 | c.387 others(127): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 2/11 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 690301 | G | GAGGGGAA others(103): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0265 | 1 | 345 | 0.0029 | 110 | c.387 others(127): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 2/11 | chr11 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 690346 | G | GAGGGGAG others(103): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0213 | 1 | 345 | 0.0029 | 110 | c.387 others(127): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 2/11 | chr11 | TogoVar |