| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACVR2B_chr3_38448890_38498142 | 38485666 | CTTTTTTT others(6): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02040.hp1 HG02129.hp1 NA18960.hp2 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0010a0001c0003t0035a0001c0003t0075others(3): Show | a0001c0003t0010g0003a0001c0003t0035g0003a0001c0003t0035g0051others(4): Show | 10 | 410 | 0.0244 | -13 | c.*23 others(24): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 2349 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
| ACVR2B_chr3_38448890_38498142 | 38485671 | T | C | 3_prime_UTR_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0002 | a0001c0002t0091 | a0001c0002t0091g0001 | 1 | 410 | 0.0024 | 0 | c.*23 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 2339 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38485693 | T | A | 3_prime_UTR_variant | MODIFIER | NA18966.hp1 NA18973.hp1 NA19080.hp2 |
a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0003 | 3 | 410 | 0.0073 | 0 | c.*23 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 2361 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38485724 | T | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(130): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(41): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023others(77): Show | 133 | 410 | 0.3244 | 0 | c.*23 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 2392 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38485757 | G | A | 3_prime_UTR_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02486.hp1 others(10): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0061a0001c0003t0062a0001c0003t0172others(7): Show | a0001c0003t0061g0117a0001c0003t0061g0123a0001c0003t0062g0019others(8): Show | 13 | 410 | 0.0317 | 0 | c.*24 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 2425 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38485784 | A | C | 3_prime_UTR_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0215 | a0001c0001t0215g0134 | 1 | 410 | 0.0024 | 0 | c.*24 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 2452 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38486165 | C | T | 3_prime_UTR_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0213 | a0001c0001t0213g0082 | 1 | 410 | 0.0024 | 0 | c.*28 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 2833 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38486232 | T | C | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp2 others(44): Show |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0010a0001c0003t0011others(19): Show | a0001c0003t0005g0003a0001c0003t0005g0150a0001c0003t0005g0159others(29): Show | 47 | 410 | 0.1146 | 0 | c.*29 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 2900 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38486422 | C | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(234): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0006a0001c0001t0017a0001c0001t0032others(103): Show | a0001c0001t0006g0002a0001c0001t0006g0033a0001c0001t0017g0020others(157): Show | 237 | 410 | 0.5781 | 0 | c.*30 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 3090 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38486459 | G | A | 3_prime_UTR_variant | MODIFIER | HG01255.hp2 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0024 | 2 | 410 | 0.0049 | 0 | c.*31 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 3127 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38486501 | T | A | 3_prime_UTR_variant | MODIFIER | NA18944.hp2 NA18949.hp1 NA18952.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0109a0001c0001t0110others(3): Show | a0001c0001t0022g0012a0001c0001t0109g0086a0001c0001t0110g0028others(3): Show | 8 | 410 | 0.0195 | 0 | c.*31 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 3169 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38486646 | G | A | 3_prime_UTR_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0002 | a0001c0002t0094 | a0001c0002t0094g0170 | 1 | 410 | 0.0024 | 0 | c.*33 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 3314 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38486648 | G | A | 3_prime_UTR_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02486.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0061a0001c0003t0062a0001c0003t0172others(4): Show | a0001c0003t0061g0117a0001c0003t0061g0123a0001c0003t0062g0019others(5): Show | 9 | 410 | 0.0220 | 0 | c.*33 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 3316 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38486666 | G | T | 3_prime_UTR_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0002 | a0001c0002t0102 | a0001c0002t0102g0001 | 1 | 410 | 0.0024 | 0 | c.*33 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 3334 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38486769 | G | A | 3_prime_UTR_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0171 | a0001c0001t0171g0122 | 1 | 410 | 0.0024 | 0 | c.*34 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 3437 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38486771 | A | G | 3_prime_UTR_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0171 | a0001c0001t0171g0122 | 1 | 410 | 0.0024 | 0 | c.*34 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 3439 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38486979 | G | A | 3_prime_UTR_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0133 | a0001c0001t0133g0083 | 1 | 410 | 0.0024 | 0 | c.*36 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 3647 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38487046 | G | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(117): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(31): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023others(66): Show | 120 | 410 | 0.2927 | 0 | c.*37 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 3714 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38487080 | G | T | 3_prime_UTR_variant | MODIFIER | HG02486.hp2 HG02572.hp2 HG02895.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0108a0001c0001t0125a0001c0001t0126others(8): Show | a0001c0001t0108g0139a0001c0001t0125g0009a0001c0001t0126g0009others(8): Show | 11 | 410 | 0.0268 | 0 | c.*37 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 3748 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38487288 | A | G | 3_prime_UTR_variant | MODIFIER | HG02145.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0124a0001c0001t0163 | a0001c0001t0124g0007a0001c0001t0163g0007 | 2 | 410 | 0.0049 | 0 | c.*39 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 3956 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38487949 | C | G | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(234): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0006a0001c0001t0017a0001c0001t0032others(103): Show | a0001c0001t0006g0002a0001c0001t0006g0033a0001c0001t0017g0020others(157): Show | 237 | 410 | 0.5781 | 0 | c.*46 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 4617 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38488185 | A | G | 3_prime_UTR_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0063a0001c0004t0199a0001c0004t0200 | a0001c0004t0063g0025a0001c0004t0199g0064a0001c0004t0200g0060 | 4 | 410 | 0.0098 | 0 | c.*48 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 4853 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38488295 | T | A | 3_prime_UTR_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0087 | a0001c0002t0087g0050 | 1 | 410 | 0.0024 | 0 | c.*49 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 4963 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38488327 | C | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(117): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(31): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023others(66): Show | 120 | 410 | 0.2927 | 0 | c.*49 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 4995 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38488334 | C | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(105): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(23): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023others(54): Show | 108 | 410 | 0.2634 | 0 | c.*50 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 5002 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38488495 | A | G | 3_prime_UTR_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0004 | a0001c0004t0200 | a0001c0004t0200g0060 | 1 | 410 | 0.0024 | 0 | c.*51 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 5163 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38488513 | G | A | 3_prime_UTR_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0134 | a0001c0001t0134g0018 | 1 | 410 | 0.0024 | 0 | c.*51 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 5181 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38488588 | A | G | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp2 others(45): Show |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0010a0001c0003t0011others(20): Show | a0001c0003t0005g0003a0001c0003t0005g0150a0001c0003t0005g0159others(30): Show | 48 | 410 | 0.1171 | 0 | c.*52 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 5256 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38488609 | T | C | 3_prime_UTR_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0063a0001c0004t0199a0001c0004t0200 | a0001c0004t0063g0025a0001c0004t0199g0064a0001c0004t0200g0060 | 4 | 410 | 0.0098 | 0 | c.*52 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 5277 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38488649 | G | C | 3_prime_UTR_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0135 | a0001c0001t0135g0077 | 1 | 410 | 0.0024 | 0 | c.*53 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 5317 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38488674 | T | C | 3_prime_UTR_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03209.hp1 |
a0001 | a0001c0004 | a0001c0004t0063a0001c0004t0199 | a0001c0004t0063g0025a0001c0004t0199g0064 | 3 | 410 | 0.0073 | 0 | c.*53 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 5342 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38489032 | A | C | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0161a0001c0001t0162 | a0001c0001t0161g0035a0001c0001t0162g0035 | 2 | 410 | 0.0049 | 0 | c.*57 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 5700 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38489274 | T | A | 3_prime_UTR_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0095 | a0001c0002t0095g0172 | 1 | 410 | 0.0024 | 0 | c.*59 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 5942 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38489275 | T | A | 3_prime_UTR_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0180 | a0001c0001t0180g0002 | 1 | 410 | 0.0024 | 0 | c.*59 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 5943 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38489276 | A | T | 3_prime_UTR_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0180 | a0001c0001t0180g0002 | 1 | 410 | 0.0024 | 0 | c.*59 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 5944 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38489312 | A | G | 3_prime_UTR_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0063a0001c0004t0199a0001c0004t0200 | a0001c0004t0063g0025a0001c0004t0199g0064a0001c0004t0200g0060 | 4 | 410 | 0.0098 | 0 | c.*59 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 5980 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38489505 | A | C | 3_prime_UTR_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0160 | a0001c0001t0160g0004 | 1 | 410 | 0.0024 | 0 | c.*61 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 6173 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38489526 | A | G | 3_prime_UTR_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0090 | a0001c0002t0090g0116 | 1 | 410 | 0.0024 | 0 | c.*61 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 6194 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38489720 | T | C | 3_prime_UTR_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0181 | a0001c0001t0181g0107 | 1 | 410 | 0.0024 | 0 | c.*63 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 6388 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38489720 | T | G | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(165): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(54): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023others(99): Show | 168 | 410 | 0.4098 | 0 | c.*63 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 6388 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38489756 | A | G | 3_prime_UTR_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0101 | a0001c0002t0101g0001 | 1 | 410 | 0.0024 | 0 | c.*64 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 6424 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38489970 | C | T | 3_prime_UTR_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0100 | a0001c0002t0100g0001 | 1 | 410 | 0.0024 | 0 | c.*66 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 6638 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38490280 | G | A | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp2 others(45): Show |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0010a0001c0003t0011others(20): Show | a0001c0003t0005g0003a0001c0003t0005g0150a0001c0003t0005g0159others(30): Show | 48 | 410 | 0.1171 | 0 | c.*69 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 6948 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38490711 | G | A | 3_prime_UTR_variant | MODIFIER | HG01255.hp2 HG02055.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0047a0001c0001t0048 | a0001c0001t0047g0024a0001c0001t0048g0054a0001c0001t0048g0055 | 4 | 410 | 0.0098 | 0 | c.*73 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 7379 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38490713 | G | A | 3_prime_UTR_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0136 | a0001c0001t0136g0007 | 1 | 410 | 0.0024 | 0 | c.*73 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 7381 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38490931 | G | C | 3_prime_UTR_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0173 | a0001c0003t0173g0119 | 1 | 410 | 0.0024 | 0 | c.*75 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 7599 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38491020 | G | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(117): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(31): Show | a0001c0002t0001g0001a0001c0002t0001g0016a0001c0002t0001g0023others(66): Show | 120 | 410 | 0.2927 | 0 | c.*76 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 7688 | 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 | a0001c0001t0017g0020a0001c0001t0017g0021a0001c0001t0017g0132others(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 | 38491358 | C | T | 3_prime_UTR_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0083 | a0001c0003t0083g0155 | 1 | 410 | 0.0024 | 0 | c.*80 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 8026 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38491519 | G | A | 3_prime_UTR_variant | MODIFIER | HG02615.hp1 HG02818.hp2 |
a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0114a0001c0002t0065g0115 | 2 | 410 | 0.0049 | 0 | c.*81 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 8187 | chr3 | TogoVar |