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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AUTS2_chr7_69593475_70798506 | 69914356 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02717.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0009a0001c0001t0032a0001c0008t0017 | a0001c0001t0009g0023 a0001c0001t0032g0016 a0001c0008t0017g0046 |
3 | 12 | 0.2500 | 8 | c.522 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69926445 | G | GTCTATCT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01884.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0071 a0001c0001t0002g0053 a0001c0001t0003g0068 others(3): Show |
6 | 48 | 0.1250 | 8 | c.522 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69926445 | G | GTCTGTCT others(1): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03453.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0061 a0002c0002t0001g0057 |
2 | 44 | 0.0455 | 8 | c.522 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69927186 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03041.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0008 | a0001c0001t0001g0026 a0001c0003t0008g0069 |
2 | 43 | 0.0465 | 8 | c.522 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69978859 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02165.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(1): Show | a0001c0001t0002g0053 a0001c0001t0005g0028 a0001c0001t0011g0041 others(1): Show |
4 | 10 | 0.4000 | 8 | c.522 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70004809 | C | CTTTATTT others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02622.hp1 HG02647.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0010 | a0001c0001t0034a0001c0001t0035a0002c0002t0026others(1): Show | a0001c0001t0034g0018 a0001c0001t0035g0019 a0002c0002t0026g0011 others(1): Show |
4 | 47 | 0.0851 | 8 | c.522 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70081965 | T | TGTGCGCG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01175.hp2 HG02622.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0010 | a0001c0001t0005a0001c0001t0009a0001c0001t0028others(3): Show | a0001c0001t0005g0020 a0001c0001t0009g0023 a0001c0001t0028g0021 others(3): Show |
6 | 55 | 0.1091 | 8 | c.523 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70090009 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG01243.hp2 others(14): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0071 others(14): Show |
17 | 44 | 0.3864 | 8 | c.523 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70112311 | C | CATAACAG others(1): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02055.hp2 HG02886.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0005a0001c0001t0009a0001c0003t0027others(1): Show | a0001c0001t0005g0005 a0001c0001t0009g0006 a0001c0001t0009g0008 others(2): Show |
5 | 76 | 0.0658 | 8 | 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 | 70156891 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00741.hp2 HG01952.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0044 a0001c0001t0002g0045 a0001c0001t0010g0064 others(1): Show |
4 | 17 | 0.2353 | 8 | 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 | 70158908 | A | ATATGATA others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03225.hp1 HG03516.hp2 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0018a0001c0003t0008a0002c0002t0036 | a0001c0001t0018g0001 a0001c0003t0008g0039 a0002c0002t0036g0017 |
3 | 76 | 0.0395 | 8 | 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 | 70303434 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0035 | a0001c0001t0009g0023 a0001c0001t0035g0019 |
2 | 37 | 0.0541 | 8 | c.661 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70303434 | G | GCGCACAC others(1): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02258.hp2 HG02647.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0073 a0001c0001t0003g0035 a0001c0001t0003g0072 others(7): Show |
10 | 45 | 0.2222 | 8 | c.661 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70338833 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG01934.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0037 a0001c0001t0002g0052 a0001c0001t0003g0061 others(7): Show |
10 | 15 | 0.6667 | 8 | 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 | 70364566 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0052 a0001c0001t0005g0028 |
2 | 34 | 0.0588 | 8 | 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 | AATATATA others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03017.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0026 | a0001c0001t0004g0051 a0002c0002t0026g0011 |
2 | 13 | 0.1538 | 8 | 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 | 70410398 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02257.hp2 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0061 a0001c0001t0004g0042 a0001c0001t0006g0010 others(1): Show |
4 | 22 | 0.1818 | 8 | 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 | 70418103 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01433.hp1 HG02258.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(3): Show | a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0001g0073 others(6): Show |
9 | 74 | 0.1216 | 8 | 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 | 70427094 | G | GGCAAAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0009 | a0001c0001t0003g0035 a0001c0001t0007g0040 a0001c0001t0009g0023 |
3 | 76 | 0.0395 | 8 | 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 | 70444343 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02165.hp2 HG04199.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0034 a0001c0001t0003g0033 a0001c0001t0005g0005 others(2): Show |
5 | 56 | 0.0893 | 8 | 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 | 70554345 | A | AAGCGTGA others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 NA20752.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015a0001c0001t0016 | a0001c0001t0005g0015 a0001c0001t0015g0002 a0001c0001t0016g0003 |
3 | 76 | 0.0395 | 8 | c.690 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70591384 | C | CTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02165.hp1 HG02165.hp2 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0034 a0001c0001t0001g0071 a0001c0001t0002g0053 others(13): Show |
16 | 55 | 0.2909 | 8 | c.691 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70649500 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG03239.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0032 a0001c0001t0003g0035 |
2 | 24 | 0.0833 | 8 | 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 | 70665435 | T | TTATTTAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00741.hp2 others(12): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0044 a0001c0001t0001g0071 a0001c0001t0003g0033 others(12): Show |
15 | 76 | 0.1974 | 8 | 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 | 70665451 | C | CTATTTAT others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01175.hp2 HG01243.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0026 a0001c0001t0003g0072 a0001c0001t0005g0015 others(7): Show |
10 | 40 | 0.2500 | 8 | 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 | 70716636 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02630.hp1 HG02647.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(2): Show | a0001c0001t0001g0074 a0001c0001t0003g0066 a0001c0001t0020g0029 others(2): Show |
5 | 12 | 0.4167 | 8 | c.742 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70721279 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03579.hp2 HG03704.hp2 |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0003a0001c0001t0005a0002c0010t0033 | a0001c0001t0003g0072 a0001c0001t0005g0028 a0002c0010t0033g0014 |
3 | 20 | 0.1500 | 8 | c.742 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70729852 | T | TTGTATGT others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG02165.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0037 a0001c0001t0001g0073 a0001c0001t0002g0062 others(10): Show |
13 | 35 | 0.3714 | 8 | c.742 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70768877 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01433.hp1 HG01433.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0010 | a0001c0001t0001a0001c0001t0007a0001c0001t0016others(6): Show | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0074 others(8): Show |
11 | 42 | 0.2619 | 8 | c.173 others(25): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33868359 | T | TAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(18): Show |
a0001a0005a0008 | a0001c0001a0005c0006a0008c0009 | a0001c0001t0001a0001c0001t0002a0005c0006t0002others(1): Show | a0001c0001t0001g0139 a0001c0001t0001g0190 a0001c0001t0002g0124 others(18): Show |
21 | 230 | 0.0913 | 8 | c.613 others(23): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33917351 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01192.hp2 HG01515.hp2 others(24): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0006a0003c0003t0003others(2): Show | a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0034 others(24): Show |
27 | 113 | 0.2389 | 8 | c.446 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33932834 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01884.hp2 HG02015.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 others(10): Show |
13 | 134 | 0.0970 | 8 | c.446 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33932838 | C | CAAACAAA others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02723.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0117 a0001c0001t0001g0118 |
3 | 35 | 0.0857 | 8 | c.446 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33932838 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01346.hp1 HG01496.hp1 others(16): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0062 a0001c0001t0001g0091 others(16): Show |
19 | 51 | 0.3725 | 8 | c.446 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33933524 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01257.hp2 HG03942.hp1 NA19068.hp1 |
a0002a0003 | a0002c0002a0003c0007 | a0002c0002t0001a0003c0007t0003 | a0002c0002t0001g0244 a0003c0007t0003g0001 a0003c0007t0003g0009 |
3 | 190 | 0.0158 | 8 | c.446 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33968099 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(11): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0009 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0082 a0001c0001t0001g0190 a0001c0001t0001g0217 others(11): Show |
14 | 34 | 0.4118 | 8 | c.445 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33983160 | A | ATATATGT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03486.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0076 |
3 | 198 | 0.0152 | 8 | c.445 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33983170 | G | GTGTGTAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(43): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0062 others(43): Show |
46 | 220 | 0.2091 | 8 | c.445 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34014367 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02723.hp1 HG02886.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0004a0004c0008 | a0001c0001t0001a0004c0004t0001a0004c0008t0001 | a0001c0001t0001g0035 a0001c0001t0001g0118 a0004c0004t0001g0018 others(2): Show |
5 | 189 | 0.0265 | 8 | c.268 others(27): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34032023 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(73): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0171 others(73): Show |
76 | 205 | 0.3707 | 8 | c.267 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVIL_chr12_57792380_57823734 | 57818182 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0035 others(7): Show |
19 | 40 | 0.4750 | 8 | c.-20 others(23): Show |
AVIL | ENSG00000135407.11 | transcript | ENST00000549994.2 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32502406 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01192.hp1 HG01258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0022a0001c0001t0023others(2): Show | a0001c0001t0008g0276 a0001c0001t0008g0295 a0001c0001t0022g0290 others(7): Show |
10 | 220 | 0.0455 | 8 | c.93+ others(23): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32503367 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01258.hp2 HG01884.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0023a0001c0001t0031a0002c0005t0021others(1): Show | a0001c0001t0023g0275 a0001c0001t0031g0291 a0001c0001t0031g0292 others(2): Show |
5 | 99 | 0.0505 | 8 | c.93+ others(23): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32546069 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01515.hp1 HG01517.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(14): Show | a0001c0001t0001g0205 a0001c0001t0003g0016 a0001c0001t0003g0019 others(19): Show |
22 | 228 | 0.0965 | 8 | c.300 others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32546083 | T | TTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00544.hp1 others(65): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(25): Show | a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0051 others(65): Show |
68 | 302 | 0.2252 | 8 | c.300 others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32556519 | A | AAATAAAT others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02896.hp1 HG02897.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0001a0001c0001t0026a0001c0001t0097others(5): Show | a0001c0001t0001g0040 a0001c0001t0026g0283 a0001c0001t0097g0186 others(5): Show |
8 | 65 | 0.1231 | 8 | c.609 others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32556519 | A | AAATGAAT others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG01884.hp2 others(7): Show |
a0001a0002 | a0001c0008a0002c0005 | a0001c0008t0093a0001c0008t0094a0001c0008t0095others(6): Show | a0001c0008t0093g0056 a0001c0008t0094g0054 a0001c0008t0095g0055 others(7): Show |
10 | 67 | 0.1493 | 8 | c.609 others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579411 | A | ATGTTATA others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01256.hp2 HG01258.hp1 others(4): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0015a0001c0004t0025a0001c0004t0034others(2): Show | a0001c0004t0015g0118 a0001c0004t0015g0120 a0001c0004t0015g0161 others(4): Show |
7 | 317 | 0.0221 | 8 | c.168 others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | chr7 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32579446 | A | ATATTATA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00738.hp1 HG01081.hp1 others(24): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0015a0001c0004t0025a0001c0004t0077others(8): Show | a0001c0004t0015g0122 a0001c0004t0015g0322 a0001c0004t0025g0123 others(24): Show |
27 | 294 | 0.0918 | 8 | c.168 others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579557 | T | TATTATAT others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01517.hp2 HG02145.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0023 | a0001c0001t0022g0290 a0001c0001t0022g0293 a0001c0001t0022g0294 others(2): Show |
5 | 297 | 0.0168 | 8 | c.168 others(25): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | chr7 | TogoVar |