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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN7L1_chr7_105599772_105881599 | 105835149 | G | GTTTTTT | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01496.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0021a0001c0001t0003g0235a0001c0001t0004g0246others(7): Show | 10 | 252 | 0.0397 | 6 | c.250 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7L1_chr7_105599772_105881599 | 105860128 | A | AATATAT | intron_variant | MODIFIER | HG00558.hp1 HG01934.hp1 HG01978.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0078a0001c0001t0002g0049a0001c0001t0002g0053others(11): Show | 14 | 252 | 0.0556 | 6 | c.250 others(25): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63863797 | C | CGCGGCG | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01993.hp1 HG02004.hp2 others(4): Show |
a0001a0006a0015 | a0001c0001a0006c0012a0015c0038 | a0001c0001t0001a0001c0001t0016a0006c0012t0019others(1): Show | a0001c0001t0001g0057a0001c0001t0001g0094a0001c0001t0001g0101others(4): Show | 7 | 300 | 0.0233 | 6 | c.-47 others(15): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 69 | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63912684 | G | GGCAGCA | disruptive_inframe_insertion | MODERATE | HG00544.hp1 HG00597.hp1 HG00733.hp2 others(41): Show |
a0003a0005a0018 | a0003c0004a0005c0005a0005c0026others(2): Show | a0003c0004t0003a0003c0004t0022a0003c0004t0023others(7): Show | a0003c0004t0003g0158a0003c0004t0003g0168a0003c0004t0003g0169others(41): Show | 44 | 300 | 0.1467 | 6 | c.113 others(13): Show |
p.Gln others(11): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 3/13 | 521/7076 | 119/2679 | 40/892 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
ATXN7_chr3_63858867_64008462 | 63934005 | C | CGTAGTT | intron_variant | MODIFIER | HG00735.hp1 HG02145.hp1 HG02257.hp2 others(4): Show |
a0004 | a0004c0006 | a0004c0006t0004a0004c0006t0024a0004c0006t0027 | a0004c0006t0004g0003a0004c0006t0004g0133a0004c0006t0004g0134others(3): Show | 7 | 300 | 0.0233 | 6 | c.395 others(25): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63952835 | C | CTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00597.hp2 others(27): Show |
a0001a0002a0009others(3): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0005a0002c0002t0002a0002c0003t0002others(9): Show | a0001c0001t0005g0215a0001c0001t0005g0234a0002c0002t0002g0119others(27): Show | 30 | 300 | 0.1000 | 6 | c.499 others(21): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63964073 | A | AACACAC | intron_variant | MODIFIER | HG01243.hp1 HG06807.hp1 NA19030.hp2 |
a0002a0026 | a0002c0002a0026c0020 | a0002c0002t0047a0002c0002t0051a0026c0020t0060 | a0002c0002t0047g0013a0002c0002t0051g0015a0026c0020t0060g0009 | 3 | 300 | 0.0100 | 6 | c.499 others(25): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63982623 | A | AGTGTGT | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01192.hp1 others(32): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0004others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(16): Show | a0001c0001t0001g0036a0001c0001t0001g0038a0001c0001t0001g0045others(32): Show | 35 | 300 | 0.1167 | 6 | c.101 others(23): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 64003205 | C | CTTTTTT | 3_prime_UTR_variant | MODIFIER | NA18939.hp2 NA18944.hp2 NA18963.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0037a0001c0001t0057 | a0001c0001t0010g0097a0001c0001t0010g0099a0001c0001t0010g0100others(4): Show | 7 | 300 | 0.0233 | 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 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0066others(4): Show | 9 | 358 | 0.0251 | 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 | a0001c0001t0001g0002a0001c0001t0001g0066a0001c0001t0001g0067others(23): Show | 27 | 358 | 0.0754 | 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 | a0001c0001t0001g0096a0002c0002t0001g0002a0002c0002t0001g0092 | 5 | 428 | 0.0117 | 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 | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0005others(3): Show | 41 | 410 | 0.1000 | 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 |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0026a0001c0001t0001g0044a0001c0001t0001g0058others(32): Show | 35 | 76 | 0.4605 | 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 |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0044a0001c0001t0001g0058a0001c0001t0002g0045others(34): Show | 37 | 76 | 0.4868 | 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 | a0001c0001t0001g0030a0001c0001t0001g0071a0001c0001t0001g0073others(11): Show | 14 | 76 | 0.1842 | 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 | a0001c0001t0002g0047a0001c0001t0002g0052a0001c0001t0004g0048others(14): Show | 17 | 76 | 0.2237 | 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 | a0001c0001t0003g0061a0002c0002t0001g0057 | 2 | 76 | 0.0263 | 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 | a0001c0001t0002g0067a0001c0001t0028g0021 | 2 | 76 | 0.0263 | 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 | a0001c0001t0004g0054a0001c0001t0005g0005a0001c0001t0005g0028others(5): Show | 8 | 76 | 0.1053 | 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 | a0001c0001t0015g0001a0001c0001t0016g0002a0001c0001t0018g0003 | 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 | a0001c0001t0001g0074a0001c0001t0005g0005a0001c0001t0005g0012others(8): Show | 11 | 76 | 0.1447 | 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 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0073others(4): Show | 7 | 76 | 0.0921 | 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 | a0001c0001t0001g0044a0001c0001t0002g0045a0001c0001t0002g0047others(10): Show | 13 | 76 | 0.1711 | 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 | a0001c0001t0005g0005a0001c0001t0032g0016a0001c0001t0035g0019 | 3 | 76 | 0.0395 | 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 | a0001c0001t0001g0026a0001c0001t0001g0030a0001c0001t0001g0071others(2): Show | 5 | 76 | 0.0658 | 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 | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0003g0076others(4): Show | 7 | 76 | 0.0921 | 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 | a0001c0001t0006g0010a0001c0004t0012g0024 | 2 | 76 | 0.0263 | 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 | a0001c0001t0001g0036a0001c0001t0001g0037 | 2 | 76 | 0.0263 | 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 | a0001c0001t0001g0036a0001c0001t0003g0061a0001c0001t0003g0066others(3): Show | 6 | 76 | 0.0790 | 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 | a0001c0001t0003g0035a0001c0001t0006g0010a0001c0003t0008g0069others(2): Show | 5 | 76 | 0.0658 | 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 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0005a0003c0006t0003 | a0001c0001t0005g0005a0003c0006t0003g0034 | 2 | 76 | 0.0263 | 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 | a0001c0001t0006g0010a0001c0001t0015g0001a0001c0001t0016g0002others(3): Show | 6 | 76 | 0.0790 | 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 | a0001c0001t0002g0053a0001c0003t0027g0009 | 2 | 76 | 0.0263 | 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 | a0001c0001t0003g0076a0001c0001t0004g0054a0001c0001t0009g0008others(5): Show | 8 | 76 | 0.1053 | 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 | a0001c0001t0001g0026a0001c0001t0001g0037a0001c0001t0001g0073others(7): Show | 10 | 76 | 0.1316 | 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 | a0001c0001t0001g0030a0001c0001t0001g0037a0001c0001t0004g0048others(4): Show | 7 | 76 | 0.0921 | 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 | a0001c0001t0002g0053a0001c0001t0011g0041a0001c0007t0006g0027 | 3 | 76 | 0.0395 | 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 | a0001c0001t0002g0047a0002c0002t0036g0017 | 2 | 76 | 0.0263 | 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 | a0001c0001t0002g0053a0001c0001t0002g0067a0001c0001t0003g0035others(3): Show | 6 | 76 | 0.0790 | 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 | a0001c0001t0001g0030a0001c0001t0001g0073a0001c0001t0002g0049others(4): Show | 7 | 76 | 0.0921 | 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 | a0001c0001t0002g0047a0001c0001t0002g0049a0001c0001t0002g0062others(3): Show | 6 | 76 | 0.0790 | 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 | a0001c0001t0001g0023a0001c0001t0001g0068a0001c0001t0001g0069others(2): Show | 5 | 266 | 0.0188 | 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(105): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0032others(105): Show | 108 | 266 | 0.4060 | 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 | a0001c0001t0001g0121a0001c0001t0002g0109a0001c0001t0002g0172others(2): Show | 5 | 266 | 0.0188 | 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 |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0031others(77): Show | 80 | 266 | 0.3008 | 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(224): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0012a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0029others(224): Show | 227 | 266 | 0.8534 | 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 | a0001c0001t0001g0154a0001c0001t0001g0155a0001c0001t0001g0156others(4): Show | 7 | 266 | 0.0263 | 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 | a0001c0001t0001g0032a0001c0001t0001g0130a0001c0001t0001g0133others(51): Show | 54 | 266 | 0.2030 | 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 | a0001c0001t0001g0121a0001c0001t0001g0200a0001c0001t0001g0221others(4): Show | 7 | 266 | 0.0263 | 6 | c.445 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar |