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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
B4GALNT4_chr11_364499_387117 | 375001 | G | GAGGGAGG others(2080): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0004 | a0004c0038 | a0004c0038t0001 | a0004c0038t0001g0021 | 1 | 184 | 0.0054 | 2087 | c.784 others(2102): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(2080): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0007 | a0002c0007t0003 | a0002c0007t0003g0070 | 1 | 338 | 0.0030 | 2087 | c.300 others(2104): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2080): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0228 | 1 | 298 | 0.0034 | 2087 | c.126 others(2104): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2080): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0021 | a0021c0031 | a0021c0031t0002 | a0021c0031t0002g0138 | 1 | 170 | 0.0059 | 2087 | c.101 others(2106): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2080): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0039 | a0039c0042 | a0039c0042t0002 | a0039c0042t0002g0091 | 1 | 170 | 0.0059 | 2087 | c.101 others(2106): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2080): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0068 | 1 | 170 | 0.0059 | 2087 | c.101 others(2106): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2080): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0060 | a0060c0090 | a0060c0090t0002 | a0060c0090t0002g0038 | 1 | 170 | 0.0059 | 2087 | c.101 others(2106): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2080): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0154 | 1 | 170 | 0.0059 | 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 | 308 | 0.0033 | 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 | 390 | 0.0026 | 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 | 158 | 0.0063 | 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 | a0020 | a0020c0051 | a0020c0051t0001 | a0020c0051t0001g0062 | 1 | 186 | 0.0054 | 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 | a0002c0003t0014a0002c0004t0014 | a0002c0003t0014g0103a0002c0004t0014g0021a0002c0004t0014g0022others(2): Show | 7 | 488 | 0.0143 | 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 | a0001c0001t0036a0001c0001t0067 | a0001c0001t0036g0015a0001c0001t0067g0099 | 3 | 488 | 0.0062 | 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 | a0001c0001t0025a0001c0002t0099 | a0001c0001t0025g0279a0001c0001t0025g0280a0001c0001t0025g0281others(2): Show | 5 | 488 | 0.0103 | 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 | a0001c0001t0072a0001c0001t0087a0001c0002t0073 | a0001c0001t0072g0154a0001c0001t0087g0229a0001c0002t0073g0155 | 3 | 488 | 0.0062 | 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 |
a0001a0004a0007 | a0001c0001a0001c0002a0004c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0023a0001c0001t0001g0025others(123): Show | 165 | 488 | 0.3381 | 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 | a0001c0001t0096 | a0001c0001t0096g0292 | 1 | 488 | 0.0021 | 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 | a0001c0002t0097 | a0001c0002t0097g0317 | 1 | 488 | 0.0021 | 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 | a0001c0001t0074 | a0001c0001t0074g0189 | 1 | 488 | 0.0021 | 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 |
a0001a0006 | a0001c0001a0001c0002a0006c0008others(1): Show | a0001c0001t0002a0001c0001t0035a0001c0001t0038others(9): Show | a0001c0001t0002g0004a0001c0001t0002g0031a0001c0001t0002g0159others(49): Show | 69 | 488 | 0.1414 | 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 | a0001c0001t0070 | a0001c0001t0070g0152 | 1 | 488 | 0.0021 | 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 | a0003c0005t0045 | a0003c0005t0045g0284a0003c0005t0045g0285 | 2 | 488 | 0.0041 | 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 | a0001c0002t0109 | a0001c0002t0109g0397 | 1 | 488 | 0.0021 | 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 | a0001c0001t0107 | a0001c0001t0107g0374 | 1 | 488 | 0.0021 | 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 | a0001c0002t0050 | a0001c0002t0050g0064 | 1 | 488 | 0.0021 | 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 | a0001c0001t0007a0001c0001t0019a0001c0001t0049others(4): Show | a0001c0001t0007g0376a0001c0001t0007g0377a0001c0001t0007g0378others(23): Show | 28 | 488 | 0.0574 | 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 | a0001c0001t0037a0001c0001t0062a0001c0002t0037 | a0001c0001t0037g0089a0001c0001t0062g0092a0001c0002t0037g0088 | 3 | 488 | 0.0062 | 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(67): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0006a0001c0001t0009a0001c0001t0017others(31): Show | a0001c0001t0006g0019a0001c0001t0006g0082a0001c0001t0006g0085others(56): Show | 70 | 488 | 0.1434 | 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 | a0001c0001t0039a0001c0001t0069a0001c0002t0039others(1): Show | a0001c0001t0039g0109a0001c0001t0069g0111a0001c0002t0039g0110others(1): Show | 4 | 488 | 0.0082 | 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 | a0001c0001t0034a0001c0001t0103a0001c0002t0034others(1): Show | a0001c0001t0034g0367a0001c0001t0034g0368a0001c0001t0103g0369others(2): Show | 5 | 488 | 0.0103 | 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 |
a0001a0002a0005 | a0001c0001a0002c0003a0002c0004others(2): Show | a0001c0001t0021a0001c0001t0058a0002c0003t0004others(19): Show | a0001c0001t0021g0006a0001c0001t0058g0075a0002c0003t0004g0053others(55): Show | 68 | 488 | 0.1393 | 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 | a0001c0001t0012a0001c0002t0012a0008c0016t0012 | a0001c0001t0012g0054a0001c0001t0012g0055a0001c0002t0012g0013others(3): Show | 10 | 488 | 0.0205 | 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 | a0001c0001t0001g0320 | 1 | 344 | 0.0029 | 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 | a0001c0001t0002g0305 | 1 | 354 | 0.0028 | 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 | 170 | 0.0059 | 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 | 256 | 0.0039 | 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 | 125 | 0.0080 | 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 | a0028 | a0028c0034 | a0028c0034t0001 | a0028c0034t0001g0067 | 1 | 82 | 0.0122 | 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 | 82 | 0.0122 | 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 | a0001c0001t0003g0086 | 1 | 96 | 0.0104 | 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 | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0039others(3): Show | 25 | 390 | 0.0641 | 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 | 390 | 0.0026 | 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 | 390 | 0.0026 | 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 | a0001c0001t0001g0097a0001c0001t0001g0131 | 2 | 390 | 0.0051 | 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 | a0001c0003t0005 | a0001c0003t0005g0002 | 1 | 106 | 0.0094 | 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 | 155 | 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 | 323 | 0.0031 | 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 | a0015 | a0015c0028 | a0015c0028t0003 | a0015c0028t0003g0234 | 1 | 274 | 0.0037 | 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 | a0001c0001t0003g0046a0001c0001t0006g0006 | 2 | 68 | 0.0294 | 2088 | c.61+ others(2107): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar |