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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2080): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0154 | 1 | 97 | 0.0103 | 2087 | c.101 others(2106): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586550 | G | GGGGGGGA others(2080): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0179 | 1 | 257 | 0.0039 | 2087 | c.157 others(2104): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGGT others(2080): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 4 | 0.2500 | 2087 | c.972 others(2100): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2080): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0056 | 1 | 95 | 0.0105 | 2087 | c.*11 others(2108): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349742 | G | GGTGGGGG others(2080): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0015 | a0015c0051 | a0015c0051t0001 | a0015c0051t0001g0060 | 1 | 170 | 0.0059 | 2087 | c.956 others(2104): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02257.hp2 others(4): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0012a0002c0004t0012 | a0002c0003t0012g0106 a0002c0004t0012g0022 a0002c0004t0012g0023 others(2): Show |
7 | 41 | 0.1707 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | HG01884.hp1 HG03098.hp1 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0055 | a0001c0001t0034g0017 a0001c0001t0055g0097 |
3 | 37 | 0.0811 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | HG02622.hp2 HG02717.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0023a0001c0002t0076 | a0001c0001t0023g0276 a0001c0001t0023g0277 a0001c0001t0023g0278 others(2): Show |
5 | 39 | 0.1282 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | HG02602.hp1 HG02738.hp1 HG04115.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0063a0001c0001t0068a0001c0002t0064 | a0001c0001t0063g0157 a0001c0001t0068g0248 a0001c0002t0064g0158 |
3 | 37 | 0.0811 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(162): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0004c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0026 others(119): Show |
165 | 199 | 0.8291 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0288 | 1 | 35 | 0.0286 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0002 | a0001c0002t0074 | a0001c0002t0074g0313 | 1 | 35 | 0.0286 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0192 | 1 | 35 | 0.0286 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00597.hp1 others(66): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008others(1): Show | a0001c0001t0002a0001c0001t0033a0001c0001t0036others(9): Show | a0001c0001t0002g0004 a0001c0001t0002g0032 a0001c0001t0002g0162 others(49): Show |
69 | 103 | 0.6699 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0155 | 1 | 35 | 0.0286 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | HG02615.hp2 HG03453.hp2 |
a0003 | a0003c0005 | a0003c0005t0040 | a0003c0005t0040g0280 a0003c0005t0040g0281 |
2 | 36 | 0.0556 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0002 | a0001c0002t0086 | a0001c0002t0086g0393 | 1 | 35 | 0.0286 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0370 | 1 | 35 | 0.0286 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0046 | a0001c0002t0046g0065 | 1 | 35 | 0.0286 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02451.hp2 others(25): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0010a0001c0001t0017a0001c0001t0045others(4): Show | a0001c0001t0010g0372 a0001c0001t0010g0373 a0001c0001t0010g0374 others(23): Show |
28 | 62 | 0.4516 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | HG01106.hp2 HG01256.hp2 NA20905.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0035a0001c0001t0054a0001c0002t0035 | a0001c0001t0035g0095 a0001c0001t0054g0096 a0001c0002t0035g0094 |
3 | 37 | 0.0811 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00673.hp2 HG00735.hp1 others(66): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0014others(18): Show | a0001c0001t0007g0207 a0001c0001t0007g0212 a0001c0001t0007g0213 others(56): Show |
69 | 103 | 0.6699 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02809.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0037a0001c0001t0060a0001c0002t0037others(1): Show | a0001c0001t0037g0112 a0001c0001t0060g0114 a0001c0002t0037g0113 others(1): Show |
4 | 38 | 0.1053 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | HG02080.hp1 HG02970.hp2 HG03239.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0032a0001c0001t0080a0001c0002t0032others(1): Show | a0001c0001t0032g0363 a0001c0001t0032g0364 a0001c0001t0080g0365 others(2): Show |
5 | 39 | 0.1282 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00558.hp2 others(65): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0002c0004others(2): Show | a0001c0001t0019a0001c0001t0051a0002c0003t0006others(16): Show | a0001c0001t0019g0007 a0001c0001t0051g0076 a0002c0003t0006g0054 others(55): Show |
68 | 102 | 0.6667 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
METTL21C_chr13_102680747_102700044 | 102694507 | G | GCTGAGAG others(2080): Show |
5_prime_UTR_variant | MODIFIER | HG00621.hp2 HG02074.hp1 NA18944.hp2 others(7): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0016 | a0001c0001t0011a0001c0002t0011a0008c0016t0011 | a0001c0001t0011g0055 a0001c0001t0011g0056 a0001c0002t0011g0015 others(3): Show |
10 | 44 | 0.2273 | 2087 | c.-10 others(2093): Show |
METTL21C | ENSG00000139780.8 | transcript | ENST00000267273.7 | protein_coding | 1/4 | 10 | chr13 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(2081): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 173 | 0.0058 | 2088 | c.127 others(2105): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585387 | G | GAGGAGGG others(2081): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0314 | 1 | 326 | 0.0031 | 2088 | c.-22 others(2105): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2081): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0089 | a0002c0089t0001 | a0002c0089t0001g0085 | 1 | 97 | 0.0103 | 2088 | c.101 others(2107): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400011 | C | CATCACCA others(2081): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0253 | 1 | 247 | 0.0040 | 2088 | c.323 others(2105): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(2081): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 3 | 0.3333 | 2088 | c.219 others(2107): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137323521 | A | ACCCACGA others(2081): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0031 | a0031c0034 | a0031c0034t0001 | a0031c0034t0001g0067 | 1 | 78 | 0.0128 | 2088 | c.218 others(2105): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 19/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355506 | A | AGGAGGAA others(2081): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0025 | 1 | 78 | 0.0128 | 2088 | c.758 others(2103): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435801 | G | GAGGGACG others(2081): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0089 | 1 | 31 | 0.0323 | 2088 | c.-16 others(2109): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2081): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01074.hp2 others(22): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0039 others(3): Show |
25 | 28 | 0.8929 | 2088 | c.972 others(2101): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2081): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 4 | 0.2500 | 2088 | c.972 others(2101): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2081): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 4 | 0.2500 | 2088 | c.972 others(2101): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2081): Show |
intron_variant | MODIFIER | HG01496.hp2 NA18952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0131 |
2 | 5 | 0.4000 | 2088 | c.972 others(2101): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218284 | A | ACCCCCCA others(2081): Show |
downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0002 | 1 | 73 | 0.0137 | 2088 | c.*27 others(2099): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1115 | chr8 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 323549 | T | TGTGTGTG others(2081): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0028 | 1 | 153 | 0.0065 | 2088 | c.-47 others(2099): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4754 | chrX | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323303 | G | GAATATAT others(2081): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0011 | 1 | 300 | 0.0033 | 2088 | c.-17 others(2099): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1666 | chr21 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877540 | T | TGGAGGTT others(2081): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0012 | a0012c0028 | a0012c0028t0003 | a0012c0028t0003g0234 | 1 | 258 | 0.0039 | 2088 | c.224 others(2107): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133354202 | A | ATGGTGGT others(2081): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0046 a0001c0001t0006g0006 |
2 | 16 | 0.1250 | 2088 | c.61+ others(2107): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
SART1_chr11_65956734_65985137 | 65971177 | A | AAGCTGAG others(2081): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0174 | 1 | 105 | 0.0095 | 2088 | c.157 others(2107): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2082): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0004 | a0004c0010 | a0004c0010t0002 | a0004c0010t0002g0058 | 1 | 50 | 0.0200 | 2089 | c.147 others(2106): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2082): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0047 | 1 | 97 | 0.0103 | 2089 | c.101 others(2108): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2082): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 4 | 0.2500 | 2089 | c.972 others(2102): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2082): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 4 | 0.2500 | 2089 | c.972 others(2102): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2082): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 95 | 0.0105 | 2089 | c.*11 others(2110): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494612 | G | GGGGGATC others(2082): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0058 | a0001c0002t0058g0026 | 1 | 300 | 0.0033 | 2089 | c.*39 others(2100): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2645 | chr7 | TogoVar |