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 | 147903251 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01109.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0002g0256 a0001c0001t0002g0282 a0001c0001t0004g0014 others(9): Show |
13 | 338 | 0.0385 | 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 | 147903933 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG01168.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 a0001c0001t0004g0195 a0001c0001t0004g0264 others(4): Show |
8 | 338 | 0.0237 | 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 | 147906818 | A | AT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(99): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0151 others(96): Show |
102 | 338 | 0.3018 | 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 | 147908038 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00558.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001 | a0001c0001t0002g0224 a0001c0001t0002g0244 a0001c0001t0004g0014 others(8): Show |
12 | 338 | 0.0355 | 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 | 147908064 | G | GA | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02109.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0198 others(5): Show |
8 | 338 | 0.0237 | 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 | C | CA | intron_variant | MODIFIER | HG01167.hp1 HG02258.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0180 a0001c0001t0004g0188 a0001c0001t0004g0190 others(6): Show |
9 | 338 | 0.0266 | 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 | 147930856 | G | GT | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02145.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0151 a0001c0001t0002g0235 a0001c0001t0004g0010 others(7): Show |
11 | 338 | 0.0325 | 1 | c.*35 others(12): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 35 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147931006 | A | AC | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01884.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0183 others(6): Show |
9 | 338 | 0.0266 | 1 | c.*37 others(12): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 185 | chr2 | TogoVar | |||||||
ACVR2B_chr3_38448890_38498142 | 38457202 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(118): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0031a0001c0002t0001a0001c0002t0002others(33): Show | a0001c0001t0031g0034 a0001c0001t0031g0137 a0001c0002t0001g0001 others(66): Show |
121 | 410 | 0.2951 | 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 | 38459121 | A | AG | intron_variant | MODIFIER | NA18978.hp2 NA18991.hp1 NA18997.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0140a0001c0001t0169others(1): Show | a0001c0001t0007g0067 a0001c0001t0140g0065 a0001c0001t0169g0066 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 | 38464575 | A | AT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(115): Show |
a0001a0002a0003 | a0001c0002a0002c0005a0003c0007 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(32): Show | a0001c0002t0001g0001 a0001c0002t0001g0016 a0001c0002t0001g0023 others(64): Show |
118 | 410 | 0.2878 | 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 | C | CA | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01069.hp1 others(37): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0013a0001c0001t0015a0001c0001t0017others(30): Show | a0001c0001t0013g0076 a0001c0001t0015g0013 a0001c0001t0017g0020 others(33): Show |
40 | 410 | 0.0976 | 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 | 38466507 | C | CT | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp2 others(96): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0006a0001c0001t0023a0001c0001t0032others(55): Show | a0001c0001t0006g0002 a0001c0001t0006g0033 a0001c0001t0023g0063 others(70): Show |
99 | 410 | 0.2415 | 1 | c.53- others(9): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38467443 | C | CA | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01934.hp2 others(16): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0170a0001c0001t0207a0001c0001t0208others(14): Show | a0001c0001t0170g0143 a0001c0001t0207g0069 a0001c0001t0208g0079 others(14): Show |
19 | 410 | 0.0463 | 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 | 38467752 | C | CA | intron_variant | MODIFIER | HG01074.hp2 HG01981.hp2 HG02451.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0190a0001c0001t0191others(8): Show | a0001c0001t0017g0020 a0001c0001t0017g0021 a0001c0001t0017g0132 others(11): Show |
14 | 410 | 0.0342 | 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 | 38469564 | G | GC | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0061a0001c0003t0062a0001c0003t0179others(1): Show | a0001c0003t0061g0117 a0001c0003t0062g0019 a0001c0003t0179g0019 others(1): Show |
5 | 410 | 0.0122 | 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 | 38482551 | G | GA | frameshift_variant | HIGH | NA18991.hp2 | a0004 | a0004c0006 | a0004c0006t0067 | a0004c0006t0067g0056 | 1 | 410 | 0.0024 | 1 | c.133 others(5): Show |
p.His others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 10/11 | 1772/11782 | 1339/1539 | 447/512 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
ACVR2B_chr3_38448890_38498142 | 38483228 | T | TC | frameshift_variant | HIGH | NA18991.hp2 | a0004 | a0004c0006 | a0004c0006t0067 | a0004c0006t0067g0056 | 1 | 410 | 0.0024 | 1 | c.143 others(5): Show |
p.Leu others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 1872/11782 | 1439/1539 | 480/512 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
ACVR2B_chr3_38448890_38498142 | 38483237 | C | CG | frameshift_variant | HIGH | NA18956.hp2 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0175 | 1 | 410 | 0.0024 | 1 | c.144 others(5): Show |
p.Arg others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 1880/11782 | 1447/1539 | 483/512 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
ACVR2B_chr3_38448890_38498142 | 38483240 | A | AG | frameshift_variant | HIGH | NA18991.hp2 | a0004 | a0004c0006 | a0004c0006t0067 | a0004c0006t0067g0056 | 1 | 410 | 0.0024 | 1 | c.144 others(5): Show |
p.Ser others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 1883/11782 | 1450/1539 | 484/512 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
ACVR2B_chr3_38448890_38498142 | 38485666 | C | CT | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(134): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0001t0009a0001c0001t0014others(75): Show | a0001c0001t0008g0006 a0001c0001t0008g0008 a0001c0001t0008g0032 others(105): Show |
137 | 410 | 0.3342 | 1 | c.*23 others(6): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 2362 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACVR2B_chr3_38448890_38498142 | 38492642 | T | TA | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(263): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0006a0001c0001t0008a0001c0001t0014others(129): Show | a0001c0001t0006g0002 a0001c0001t0006g0033 a0001c0001t0008g0006 others(188): Show |
266 | 410 | 0.6488 | 1 | c.*93 others(6): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9319 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACVR2B_chr3_38448890_38498142 | 38492649 | A | AT | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG01070.hp1 others(43): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0042a0001c0002t0098a0001c0002t0099others(20): Show | a0001c0002t0042g0113 a0001c0002t0042g0145 a0001c0002t0098g0185 others(31): Show |
46 | 410 | 0.1122 | 1 | c.*93 others(12): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9318 | chr3 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38497075 | C | CA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(154): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0009others(102): Show | a0001c0001t0007g0067 a0001c0001t0007g0100 a0001c0001t0007g0103 others(128): Show |
157 | 410 | 0.3829 | 1 | c.*13 others(14): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 3934 | chr3 | TogoVar | |||||||
ACVRL1_chr12_51902504_51928361 | 51903798 | C | CA | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG00738.hp2 others(50): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0038 others(17): Show |
53 | 438 | 0.1210 | 1 | c.-39 others(12): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 3705 | chr12 | TogoVar | |||||||
ACVRL1_chr12_51902504_51928361 | 51904901 | C | CA | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02896.hp2 HG03098.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012a0001c0001t0014others(1): Show | a0001c0001t0004g0109 a0001c0001t0012g0049 a0001c0001t0012g0106 others(5): Show |
8 | 438 | 0.0183 | 1 | c.-28 others(12): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 2602 | chr12 | TogoVar | |||||||
ACVRL1_chr12_51902504_51928361 | 51913176 | C | CG | frameshift_variant | HIGH | NA18992.hp2 | a0006 | a0006c0016 | a0006c0016t0003 | a0006c0016t0003g0010 | 1 | 438 | 0.0023 | 1 | c.145 others(4): Show |
p.Ala others(4): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 3/10 | 343/4177 | 146/1512 | 49/503 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ACVRL1_chr12_51902504_51928361 | 51913236 | C | CG | frameshift_variant | HIGH | NA18992.hp2 | a0006 | a0006c0016 | a0006c0016t0003 | a0006c0016t0003g0010 | 1 | 438 | 0.0023 | 1 | c.203 others(4): Show |
p.Cys others(4): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 3/10 | 401/4177 | 204/1512 | 68/503 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ACVRL1_chr12_51902504_51928361 | 51913276 | G | GC | frameshift_variant | HIGH | NA18994.hp1 | a0007 | a0007c0014 | a0007c0014t0003 | a0007c0014t0003g0131 | 1 | 438 | 0.0023 | 1 | c.243 others(4): Show |
p.Thr others(4): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 3/10 | 441/4177 | 244/1512 | 82/503 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ACVRL1_chr12_51902504_51928361 | 51913338 | C | CT | frameshift_variant | HIGH | NA18972.hp2 | a0005 | a0005c0013 | a0005c0013t0002 | a0005c0013t0002g0065 | 1 | 438 | 0.0023 | 1 | c.302 others(4): Show |
p.Val others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 3/10 | 500/4177 | 303/1512 | 101/503 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ACVRL1_chr12_51902504_51928361 | 51913564 | C | CA | frameshift_variant | HIGH | NA18965.hp2 | a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0003 | 1 | 438 | 0.0023 | 1 | c.321 others(4): Show |
p.Pro others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 4/10 | 519/4177 | 322/1512 | 108/503 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ACVRL1_chr12_51902504_51928361 | 51915248 | T | TC | frameshift_variant | HIGH | NA18992.hp2 | a0006 | a0006c0016 | a0006c0016t0003 | a0006c0016t0003g0010 | 1 | 438 | 0.0023 | 1 | c.799 others(4): Show |
p.Arg others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 7/10 | 997/4177 | 800/1512 | 267/503 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ACVRL1_chr12_51902504_51928361 | 51915483 | G | GT | frameshift_variant | HIGH | NA18992.hp2 | a0006 | a0006c0016 | a0006c0016t0003 | a0006c0016t0003g0010 | 1 | 438 | 0.0023 | 1 | c.103 others(5): Show |
p.Cys others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 7/10 | 1231/4177 | 1034/1512 | 345/503 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ACVRL1_chr12_51902504_51928361 | 51916200 | C | CT | frameshift_variant | HIGH | NA18965.hp2 | a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0003 | 1 | 438 | 0.0023 | 1 | c.121 others(5): Show |
p.Trp others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 8/10 | 1412/4177 | 1215/1512 | 405/503 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ACVRL1_chr12_51902504_51928361 | 51921738 | C | CT | 3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01256.hp2 HG01258.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0006a0001c0001t0009a0001c0001t0028others(8): Show | a0001c0001t0006g0024 a0001c0001t0006g0072 a0001c0001t0009g0125 others(16): Show |
26 | 438 | 0.0594 | 1 | c.*85 others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 857 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACVRL1_chr12_51902504_51928361 | 51923681 | C | CG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp1 others(62): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0015a0003c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0012 a0001c0001t0003g0002 a0001c0001t0003g0010 others(21): Show |
65 | 438 | 0.1484 | 1 | c.*27 others(12): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 321 | chr12 | TogoVar | |||||||
ACVRL1_chr12_51902504_51928361 | 51925489 | T | TG | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01106.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(1): Show | a0001c0001t0001g0017 a0001c0001t0002g0020 a0001c0001t0002g0039 others(4): Show |
11 | 438 | 0.0251 | 1 | c.*45 others(12): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 2129 | chr12 | TogoVar | |||||||
ACVRL1_chr12_51902504_51928361 | 51928104 | G | GA | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02647.hp2 HG02896.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0006 | a0001c0001t0002g0004 a0001c0001t0002g0023 a0001c0001t0004g0109 others(3): Show |
7 | 438 | 0.0160 | 1 | c.*72 others(12): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 4744 | chr12 | TogoVar | |||||||
ACY1_chr3_51978535_51994197 | 51981894 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(3): Show |
34 | 338 | 0.1006 | 1 | c.-17 others(12): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 1640 | chr3 | TogoVar | |||||||
ACY1_chr3_51978535_51994197 | 51984814 | C | CA | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01884.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 others(6): Show |
33 | 338 | 0.0976 | 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 | 51989986 | C | CT | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02717.hp1 HG03041.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0028 others(1): Show |
8 | 338 | 0.0237 | 1 | c.*91 others(10): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 790 | chr3 | TogoVar | |||||||
ACY1_chr3_51978535_51994197 | 51993389 | C | CA | downstream_gene_variant | MODIFIER | HG02135.hp1 HG02258.hp2 HG02280.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(2): Show |
16 | 338 | 0.0473 | 1 | c.*43 others(12): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 4193 | chr3 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67639815 | G | GC | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01099.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0021 others(12): Show |
25 | 396 | 0.0631 | 1 | c.*29 others(12): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 2739 | chr11 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67645518 | A | AG | intron_variant | MODIFIER | HG00741.hp2 HG01928.hp2 HG02027.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0013others(3): Show | a0001c0001t0001g0020 a0001c0001t0001g0068 a0001c0001t0001g0070 others(12): Show |
19 | 396 | 0.0480 | 1 | c.433 others(8): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 4/7 | chr11 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67645711 | T | TG | frameshift_variant | HIGH | NA19006.hp1 | a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0088 | 1 | 396 | 0.0025 | 1 | c.412 others(4): Show |
p.His others(5): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 4/8 | 654/1371 | 412/960 | 138/319 | chr11 | TogoVar | |||
ACY3_chr11_67637555_67655730 | 67646844 | T | TG | frameshift_variant | HIGH | NA19006.hp1 | a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0088 | 1 | 396 | 0.0025 | 1 | c.199 others(4): Show |
p.His others(4): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 3/8 | 441/1371 | 199/960 | 67/319 | chr11 | TogoVar | |||
ACY3_chr11_67637555_67655730 | 67646962 | C | CG | frameshift_variant | HIGH | NA19006.hp1 | a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0088 | 1 | 396 | 0.0025 | 1 | c.81d others(3): Show |
p.Val others(4): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 3/8 | 323/1371 | 81/960 | 27/319 | chr11 | TogoVar | |||
ACY3_chr11_67637555_67655730 | 67647503 | A | AG | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp1 HG02109.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0097 others(11): Show |
21 | 396 | 0.0530 | 1 | c.-21 others(7): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 2/7 | chr11 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67650935 | G | GT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(236): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(81): Show |
239 | 396 | 0.6035 | 1 | c.-44 others(10): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 206 | chr11 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67651097 | A | AT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(163): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(48): Show |
166 | 396 | 0.4192 | 1 | c.-61 others(10): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 368 | chr11 | TogoVar |