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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACVR2A_chr2_147840029_147935822 | 147893468 | AC | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(105): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0151 others(102): Show |
108 | 338 | 0.3195 | -1 | c.56- others(8): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147894426 | CT | C | intron_variant | MODIFIER | HG00408.hp1 NA18959.hp2 NA18974.hp1 others(2): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0008a0001c0008t0008 | a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0001t0008g0124 others(2): Show |
5 | 338 | 0.0148 | -1 | c.56- others(8): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147899841 | AT | A | frameshift_variant | HIGH | NA19075.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0111 | 1 | 338 | 0.0030 | -1 | c.475 others(4): Show |
p.Trp others(5): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 4/11 | 599/5214 | 475/1542 | 159/513 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
ACVR2A_chr2_147840029_147935822 | 147906818 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG01070.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0003g0280 a0001c0001t0003g0299 a0001c0001t0003g0308 others(24): Show |
28 | 338 | 0.0828 | -1 | c.528 others(9): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147909943 | TA | T | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp1 HG02895.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 others(4): Show |
7 | 338 | 0.0207 | -1 | c.529 others(9): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147913822 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00642.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0172 others(29): Show |
33 | 338 | 0.0976 | -1 | c.529 others(9): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147918168 | TA | T | intron_variant | MODIFIER | HG02071.hp2 HG02145.hp1 HG02165.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0016a0001c0001t0017others(2): Show | a0001c0001t0004g0150 a0001c0001t0004g0195 a0001c0001t0016g0193 others(3): Show |
6 | 338 | 0.0178 | -1 | c.817 others(8): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147922092 | AT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(112): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0151 others(108): Show |
115 | 338 | 0.3402 | -1 | c.107 others(9): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147930355 | GT | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(14): Show | a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 others(183): Show |
196 | 338 | 0.5799 | -1 | c.*30 others(6): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 11/11 | 3098 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACVR2A_chr2_147840029_147935822 | 147930856 | GT | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(139): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0006others(13): Show | a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0185 others(138): Show |
142 | 338 | 0.4201 | -1 | c.*35 others(6): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 35 | chr2 | TogoVar | |||||||
ACVR2B_chr3_38448890_38498142 | 38461698 | TA | T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0071a0001c0001t0072a0001c0001t0073others(1): Show | a0001c0001t0071g0017 a0001c0001t0072g0017 a0001c0001t0073g0017 others(1): Show |
4 | 410 | 0.0098 | -1 | c.52+ others(8): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38465388 | AT | A | intron_variant | MODIFIER | HG02486.hp2 HG02895.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0108a0001c0001t0128a0001c0001t0130others(1): Show | a0001c0001t0108g0139 a0001c0001t0128g0140 a0001c0001t0130g0141 others(1): Show |
4 | 410 | 0.0098 | -1 | c.52+ others(9): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38465397 | CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(116): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0007a0001c0001t0027a0001c0001t0053others(33): Show | a0001c0001t0007g0067 a0001c0001t0007g0100 a0001c0001t0007g0103 others(65): Show |
119 | 410 | 0.2902 | -1 | c.52+ others(9): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38467752 | CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(216): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0006a0001c0001t0032a0001c0001t0033others(92): Show | a0001c0001t0006g0002 a0001c0001t0006g0033 a0001c0001t0032g0002 others(139): Show |
219 | 410 | 0.5342 | -1 | c.53- others(8): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38468795 | TG | T | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0063a0001c0004t0199a0001c0004t0200 | a0001c0004t0063g0025 a0001c0004t0199g0064 a0001c0004t0200g0060 |
4 | 410 | 0.0098 | -1 | c.53- others(8): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
ACVR2B_chr3_38448890_38498142 | 38485666 | CT | C | 3_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01943.hp2 HG02895.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0059a0001c0001t0106a0001c0001t0107others(3): Show | a0001c0001t0059g0002 a0001c0001t0106g0005 a0001c0001t0107g0022 others(3): Show |
7 | 410 | 0.0171 | -1 | c.*23 others(6): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 2361 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACVR2B_chr3_38448890_38498142 | 38491048 | TA | T | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01981.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0058a0001c0001t0174others(13): Show | a0001c0001t0017g0020 a0001c0001t0017g0021 a0001c0001t0017g0132 others(17): Show |
20 | 410 | 0.0488 | -1 | c.*77 others(6): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 7719 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACVR2B_chr3_38448890_38498142 | 38494889 | CT | C | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG01169.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0030a0001c0001t0071a0001c0001t0072others(3): Show | a0001c0001t0030g0006 a0001c0001t0071g0017 a0001c0001t0072g0017 others(3): Show |
6 | 410 | 0.0146 | -1 | c.*11 others(7): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1748 | chr3 | TogoVar | |||||||
ACVRL1_chr12_51902504_51928361 | 51902883 | AT | A | upstream_gene_variant | MODIFIER | HG01257.hp2 HG02040.hp1 HG02055.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0033 others(10): Show |
14 | 438 | 0.0320 | -1 | c.-48 others(6): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 4620 | chr12 | TogoVar | |||||||
ACVRL1_chr12_51902504_51928361 | 51906290 | TG | T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG00735.hp1 others(41): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0038 a0001c0001t0001g0158 others(10): Show |
44 | 438 | 0.1005 | -1 | c.-14 others(6): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 1213 | chr12 | TogoVar | |||||||
ACVRL1_chr12_51902504_51928361 | 51912487 | TC | T | frameshift_variant | HIGH | NA19001.hp1 | a0009 | a0009c0006 | a0009c0006t0001 | a0009c0006t0001g0001 | 1 | 438 | 0.0023 | -1 | c.18d others(3): Show |
p.Arg others(3): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 2/10 | 215/4177 | 18/1512 | 6/503 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ACVRL1_chr12_51902504_51928361 | 51914532 | TC | T | frameshift_variant | HIGH | NA18994.hp2 | a0008 | a0008c0011 | a0008c0011t0002 | a0008c0011t0002g0006 | 1 | 438 | 0.0023 | -1 | c.721 others(4): Show |
p.Arg others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 6/10 | 918/4177 | 721/1512 | 241/503 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ACVRL1_chr12_51902504_51928361 | 51920505 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 a0001c0001t0002g0074 |
3 | 438 | 0.0069 | -1 | c.137 others(9): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVRL1_chr12_51902504_51928361 | 51928104 | GA | G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(138): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0002a0005c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(42): Show |
141 | 438 | 0.3219 | -1 | c.*72 others(6): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 4744 | chr12 | TogoVar | |||||||
ACY1_chr3_51978535_51994197 | 51979488 | GT | G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(40): Show |
a0001a0002a0008 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(10): Show |
43 | 338 | 0.1272 | -1 | c.-41 others(6): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 4046 | chr3 | TogoVar | |||||||
ACY1_chr3_51978535_51994197 | 51981894 | CA | C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00597.hp2 others(51): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(6): Show |
54 | 338 | 0.1598 | -1 | c.-17 others(6): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 1640 | chr3 | TogoVar | |||||||
ACY1_chr3_51978535_51994197 | 51983697 | CT | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01884.hp1 others(28): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0009 | a0001c0001t0001a0002c0002t0001a0008c0009t0001 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(5): Show |
31 | 338 | 0.0917 | -1 | c.-19 others(8): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACY1_chr3_51978535_51994197 | 51984814 | CA | C | intron_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG03540.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0034 others(1): Show |
7 | 338 | 0.0207 | -1 | c.95- others(7): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACY1_chr3_51978535_51994197 | 51986496 | TG | T | frameshift_variant | HIGH | NA19001.hp2 | a0007 | a0007c0004 | a0007c0004t0001 | a0007c0004t0001g0037 | 1 | 338 | 0.0030 | -1 | c.520 others(4): Show |
p.Asp others(5): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 7/15 | 593/1422 | 520/1227 | 174/408 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
ACY1_chr3_51978535_51994197 | 51989986 | CT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(233): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0010a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(29): Show |
236 | 338 | 0.6982 | -1 | c.*91 others(5): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 790 | chr3 | TogoVar | |||||||
ACY1_chr3_51978535_51994197 | 51993457 | GC | G | downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0016 |
5 | 338 | 0.0148 | -1 | c.*43 others(6): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 4261 | chr3 | TogoVar | |||||||
ACY1_chr3_51978535_51994197 | 51993468 | GC | G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02630.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 4 | 338 | 0.0118 | -1 | c.*43 others(6): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 4272 | chr3 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67637731 | AT | A | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02818.hp2 HG02965.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0006a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0006g0002 a0002c0002t0001g0083 a0002c0002t0002g0007 others(5): Show |
9 | 396 | 0.0227 | -1 | c.*49 others(6): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 4823 | chr11 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67638292 | TA | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(66): Show |
a0001a0002a0005 | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(31): Show |
69 | 396 | 0.1742 | -1 | c.*44 others(6): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 4262 | chr11 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67641839 | CG | C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 396 | 0.0076 | -1 | c.*88 others(5): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 715 | chr11 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67650234 | TC | T | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02257.hp1 others(15): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0002t0002a0002c0002t0013others(1): Show | a0002c0002t0001g0006 a0002c0002t0001g0137 a0002c0002t0001g0138 others(6): Show |
18 | 396 | 0.0455 | -1 | c.-95 others(8): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67650871 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(121): Show |
348 | 396 | 0.8788 | -1 | c.-38 others(5): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 142 | chr11 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67651731 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(320): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(108): Show |
323 | 396 | 0.8157 | -1 | c.-12 others(6): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 1002 | chr11 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67652014 | CA | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp2 NA18906.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0004a0002c0003t0002others(1): Show | a0001c0001t0001g0127 a0002c0002t0004g0029 a0002c0002t0004g0030 others(2): Show |
6 | 396 | 0.0152 | -1 | c.-15 others(6): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 1285 | chr11 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67653128 | AT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(326): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(110): Show |
329 | 396 | 0.8308 | -1 | c.-26 others(6): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 2399 | chr11 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75051937 | CT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(249): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(94): Show |
252 | 322 | 0.7826 | -1 | c.*15 others(6): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 1305 | chr14 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75055079 | CT | C | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG01070.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0041 others(17): Show |
30 | 322 | 0.0932 | -1 | c.85- others(8): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75062659 | CA | C | intron_variant | MODIFIER | HG01109.hp1 HG01496.hp1 HG01496.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0048 others(3): Show |
9 | 322 | 0.0280 | -1 | c.84+ others(7): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75065719 | TC | T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00735.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0043 a0001c0001t0001g0044 others(3): Show |
8 | 322 | 0.0248 | -1 | c.-17 others(6): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 1696 | chr14 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75066383 | TG | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(276): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(109): Show |
279 | 322 | 0.8665 | -1 | c.-24 others(6): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2360 | chr14 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75068712 | TA | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01168.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0022 others(3): Show |
6 | 322 | 0.0186 | -1 | c.-47 others(6): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 4689 | chr14 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53967649 | CA | C | upstream_gene_variant | MODIFIER | HG01516.hp1 HG02647.hp1 HG02965.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0113 a0001c0001t0001g0125 a0001c0001t0001g0193 others(7): Show |
10 | 272 | 0.0368 | -1 | c.-37 others(6): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 3463 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53969660 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(165): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0115 a0001c0001t0001g0116 others(165): Show |
168 | 272 | 0.6177 | -1 | c.-16 others(6): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 1452 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53969687 | GT | G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00597.hp2 others(58): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0115 a0001c0001t0001g0116 others(58): Show |
61 | 272 | 0.2243 | -1 | c.-16 others(6): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 1425 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53971810 | AG | A | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02809.hp2 others(2): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0006a0003c0004t0007 | a0001c0002t0006g0002 a0001c0002t0006g0005 a0001c0002t0006g0006 others(2): Show |
5 | 272 | 0.0184 | -1 | c.-37 others(8): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |