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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN7_chr3_63858867_64008462 | 64003205 | C | CTTTTTT | 3_prime_UTR_variant | MODIFIER | NA18939.hp2 NA18944.hp2 NA18963.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0020 | a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 others(4): Show |
7 | 155 | 0.0452 | 6 | c.*37 others(17): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 13/13 | 3763 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AUH_chr9_91208823_91366918 | 91216439 | G | GACACAC | intron_variant | MODIFIER | HG01952.hp2 HG01978.hp2 HG02004.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0066 others(4): Show |
9 | 173 | 0.0520 | 6 | c.895 others(21): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 8/9 | chr9 | TogoVar | |||||||
AUH_chr9_91208823_91366918 | 91329311 | A | AAAAAAC | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0066 a0001c0001t0001g0067 others(23): Show |
27 | 356 | 0.0758 | 6 | c.419 others(23): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8214581 | G | GATATAT | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01081.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0096 a0002c0002t0001g0002 a0002c0002t0001g0092 |
5 | 375 | 0.0133 | 6 | c.-40 others(17): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4007 | chr17 | TogoVar | |||||||
AURKC_chr19_57226023_57240548 | 57239587 | T | TAGAGAG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00558.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007 | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 others(3): Show |
41 | 127 | 0.3228 | 6 | c.*41 others(17): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 4040 | chr19 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69598054 | A | ACGCCCC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00597.hp2 others(32): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0058 others(32): Show |
35 | 71 | 0.4930 | 6 | c.-16 others(17): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 420 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69611936 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(34): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0002g0045 others(34): Show |
37 | 60 | 0.6167 | 6 | c.309 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69714249 | A | ATGTGTG | intron_variant | MODIFIER | HG00597.hp1 HG01175.hp2 HG01243.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(8): Show | a0001c0001t0001g0032 a0001c0001t0001g0071 a0001c0001t0001g0073 others(11): Show |
14 | 39 | 0.3590 | 6 | c.309 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69747784 | G | GGTGTGT | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01175.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0004g0048 others(14): Show |
17 | 34 | 0.5000 | 6 | c.309 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69870448 | A | AATATAT | intron_variant | MODIFIER | HG02622.hp2 HG03453.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0061 a0002c0002t0001g0057 |
2 | 20 | 0.1000 | 6 | c.310 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69888540 | G | GATATAT | intron_variant | MODIFIER | HG04199.hp2 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028 | a0001c0001t0002g0067 a0001c0001t0028g0021 |
2 | 12 | 0.1667 | 6 | c.310 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69914356 | G | GACACAC | intron_variant | MODIFIER | HG01952.hp2 HG02055.hp2 HG02615.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(4): Show | a0001c0001t0004g0054 a0001c0001t0005g0005 a0001c0001t0005g0028 others(5): Show |
8 | 17 | 0.4706 | 6 | c.522 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69917460 | G | GTAGTCC | intron_variant | MODIFIER | HG03516.hp2 NA20752.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0018 | a0001c0001t0015g0002 a0001c0001t0016g0003 a0001c0001t0018g0001 |
3 | 76 | 0.0395 | 6 | c.522 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69917822 | T | TTTGTTG | intron_variant | MODIFIER | HG01952.hp2 HG02257.hp2 HG02258.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0001g0073 a0001c0001t0005g0005 a0001c0001t0005g0012 others(8): Show |
11 | 40 | 0.2750 | 6 | c.522 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69927186 | T | TTATATA | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp1 HG01433.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(1): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0073 others(4): Show |
7 | 48 | 0.1458 | 6 | c.522 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69978859 | A | AACACAC | intron_variant | MODIFIER | HG00597.hp2 HG00741.hp1 HG00741.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 others(10): Show |
13 | 19 | 0.6842 | 6 | c.522 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70081965 | T | TGTGCGC | intron_variant | MODIFIER | HG01952.hp2 HG02647.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0032a0001c0001t0035 | a0001c0001t0005g0005 a0001c0001t0032g0016 a0001c0001t0035g0019 |
3 | 52 | 0.0577 | 6 | c.523 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70277926 | T | TTGTGTG | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014 | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0071 others(2): Show |
5 | 61 | 0.0820 | 6 | c.660 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70277960 | G | GTATGTA | intron_variant | MODIFIER | HG00741.hp1 HG01433.hp1 HG02258.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0072 others(4): Show |
7 | 42 | 0.1667 | 6 | c.660 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70303430 | G | GCACACA | intron_variant | MODIFIER | HG02257.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0012 | a0001c0001t0006g0010 a0001c0004t0012g0025 |
2 | 74 | 0.0270 | 6 | c.661 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70303434 | G | GCGCACA | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0037 |
2 | 37 | 0.0541 | 6 | c.661 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70377325 | A | AATATAT | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01433.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0037 a0001c0001t0003g0061 a0001c0001t0003g0066 others(3): Show |
6 | 17 | 0.3529 | 6 | c.661 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70418075 | C | CTGTGTG | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0003t0008others(2): Show | a0001c0001t0003g0035 a0001c0001t0006g0010 a0001c0003t0008g0069 others(2): Show |
5 | 58 | 0.0862 | 6 | c.661 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70418107 | G | GTGTGTC | intron_variant | MODIFIER | HG01952.hp2 HG04199.hp1 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0005a0004c0006t0003 | a0001c0001t0005g0005 a0004c0006t0003g0030 |
2 | 63 | 0.0317 | 6 | c.661 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70491589 | T | TTGTGTG | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 NA19030.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0006a0001c0001t0015a0001c0001t0016others(3): Show | a0001c0001t0006g0010 a0001c0001t0015g0002 a0001c0001t0016g0003 others(3): Show |
6 | 28 | 0.2143 | 6 | c.690 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70590160 | A | ATGTATG | intron_variant | MODIFIER | HG02165.hp1 HG02886.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0027 | a0001c0001t0002g0053 a0001c0003t0027g0009 |
2 | 63 | 0.0317 | 6 | c.691 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70605546 | C | CTTTTTT | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0003g0072 a0001c0001t0004g0054 a0001c0001t0009g0008 others(5): Show |
8 | 34 | 0.2353 | 6 | c.691 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70615565 | C | CTTGTTG | intron_variant | MODIFIER | HG00741.hp1 HG01175.hp1 HG01433.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0074 others(7): Show |
10 | 28 | 0.3571 | 6 | c.691 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70639616 | C | CAAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG02257.hp1 HG02630.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0025others(2): Show | a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0004g0048 others(4): Show |
7 | 14 | 0.5000 | 6 | c.691 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70640572 | G | GGTGTGT | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02165.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0011a0001c0007t0006 | a0001c0001t0002g0053 a0001c0001t0011g0041 a0001c0007t0006g0027 |
3 | 29 | 0.1034 | 6 | c.691 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70696674 | A | AACACAC | intron_variant | MODIFIER | HG03139.hp1 HG03225.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0036 | a0001c0001t0002g0047 a0002c0002t0036g0017 |
2 | 57 | 0.0351 | 6 | c.691 others(23): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70716636 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG02055.hp1 HG02055.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0002g0053 a0001c0001t0002g0067 a0001c0001t0003g0035 others(3): Show |
6 | 13 | 0.4615 | 6 | c.742 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70721279 | C | CGTGTGT | intron_variant | MODIFIER | HG00099.hp2 HG01433.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0074 a0001c0001t0002g0049 others(4): Show |
7 | 24 | 0.2917 | 6 | c.742 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70796776 | C | CTTTGTT | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02886.hp1 HG03139.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(1): Show | a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0062 others(3): Show |
6 | 76 | 0.0789 | 6 | c.*57 others(17): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 3271 | chr7 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33904726 | C | CACACAT | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01071.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0105 a0001c0001t0001g0119 a0001c0001t0001g0215 others(2): Show |
5 | 264 | 0.0189 | 6 | c.446 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33917351 | G | GGTGTGT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(104): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 others(104): Show |
107 | 193 | 0.5544 | 6 | c.446 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33933491 | T | TCACACA | intron_variant | MODIFIER | HG00558.hp1 HG02071.hp1 HG02602.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0260 a0001c0001t0002g0073 a0001c0001t0002g0248 others(2): Show |
5 | 224 | 0.0223 | 6 | c.446 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33968099 | T | TAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00558.hp1 others(77): Show |
a0001a0002a0003 | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0058 others(76): Show |
80 | 100 | 0.8000 | 6 | c.445 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33972503 | A | AAAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(223): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0012a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 others(222): Show |
226 | 264 | 0.8561 | 6 | c.445 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33983158 | G | GTGTATA | intron_variant | MODIFIER | HG01496.hp1 HG02071.hp1 HG02486.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(4): Show |
7 | 214 | 0.0327 | 6 | c.445 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33983160 | A | ATATATG | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01255.hp1 others(51): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0037 others(51): Show |
54 | 249 | 0.2169 | 6 | c.445 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33983160 | A | ATATGTG | intron_variant | MODIFIER | HG02735.hp1 HG03041.hp1 HG03195.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0101 a0001c0001t0001g0125 a0001c0001t0001g0142 others(4): Show |
7 | 202 | 0.0347 | 6 | c.445 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33983170 | G | GTGTATA | intron_variant | MODIFIER | HG01081.hp2 HG02071.hp1 HG03139.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0032 a0001c0001t0001g0092 a0001c0001t0001g0096 others(2): Show |
5 | 179 | 0.0279 | 6 | c.445 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33983211 | T | TATATAC | intron_variant | MODIFIER | HG00408.hp2 HG02451.hp1 HG02886.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 others(5): Show |
8 | 244 | 0.0328 | 6 | c.445 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34017018 | C | CCTGTAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(97): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0034 a0001c0001t0001g0119 a0001c0001t0001g0166 others(96): Show |
100 | 264 | 0.3788 | 6 | c.268 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34038654 | A | AGGCGCC | intron_variant | MODIFIER | HG00099.hp2 HG01069.hp2 HG01106.hp2 others(11): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0003a0003c0007t0003 | a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0004 others(10): Show |
14 | 264 | 0.0530 | 6 | c.267 others(21): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVIL_chr12_57792380_57823734 | 57795072 | C | CATATAT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG02083.hp2 HG04228.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0001 | a0001c0001t0001g0005 a0001c0001t0001g0110 a0001c0001t0001g0174 others(1): Show |
4 | 226 | 0.0177 | 6 | c.*28 others(17): Show |
AVIL | ENSG00000135407.11 | transcript | ENST00000549994.2 | protein_coding | 2307 | chr12 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32502392 | C | CAAAAAA | intron_variant | MODIFIER | HG01255.hp1 HG01884.hp2 HG02258.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0001a0001c0001t0030a0001c0001t0046others(9): Show | a0001c0001t0001g0014 a0001c0001t0030g0221 a0001c0001t0046g0189 others(10): Show |
13 | 136 | 0.0956 | 6 | c.93+ others(21): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32503367 | T | TACACAC | intron_variant | MODIFIER | HG01106.hp2 HG03098.hp2 NA18978.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0022a0001c0001t0028a0002c0005t0051 | a0001c0001t0022g0290 a0001c0001t0028g0249 a0002c0005t0051g0317 |
3 | 97 | 0.0309 | 6 | c.93+ others(21): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32561649 | C | CAAAACA | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp1 HG01255.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0022a0001c0001t0023a0001c0001t0041others(13): Show | a0001c0001t0022g0290 a0001c0001t0022g0293 a0001c0001t0022g0294 others(20): Show |
23 | 326 | 0.0706 | 6 | c.121 others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |