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 | 69989536 | G | GAGA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00597.hp1 others(45): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(28): Show | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 others(45): Show |
48 | 76 | 0.6316 | 3 | c.522 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70025777 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG03017.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(2): Show | a0001c0001t0005g0020 a0001c0001t0007g0040 a0001c0001t0009g0023 others(2): Show |
5 | 33 | 0.1515 | 3 | c.523 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70066539 | A | ATTT | intron_variant | MODIFIER | HG01433.hp1 HG02258.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(2): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0072 others(3): Show |
6 | 50 | 0.1200 | 3 | c.523 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70170595 | C | CTTT | intron_variant | MODIFIER | HG01081.hp2 HG02257.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0001t0006a0001c0005t0030 | a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0006g0010 others(1): Show |
4 | 34 | 0.1176 | 3 | c.660 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70185257 | C | CTTT | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0001t0006a0001c0001t0014others(1): Show | a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0006g0038 others(2): Show |
5 | 32 | 0.1563 | 3 | c.660 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70187775 | C | CTTT | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00741.hp1 others(20): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0011others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 others(20): Show |
23 | 53 | 0.4340 | 3 | c.660 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70203344 | T | TAAA | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01934.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0011 | a0001c0001t0005a0001c0001t0009a0002c0002t0026others(1): Show | a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0009g0023 others(2): Show |
5 | 9 | 0.5556 | 3 | c.660 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70255074 | C | CTTT | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00741.hp1 others(21): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 others(21): Show |
24 | 71 | 0.3380 | 3 | c.660 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70273471 | T | TTTA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00597.hp1 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(27): Show | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 others(43): Show |
46 | 76 | 0.6053 | 3 | c.660 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70326917 | C | CTTT | intron_variant | MODIFIER | HG01934.hp2 HG02165.hp2 HG02630.hp1 others(5): Show |
a0001a0003a0004 | a0001c0001a0003c0011a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(3): Show | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0003g0033 others(5): Show |
8 | 13 | 0.6154 | 3 | c.661 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70367577 | A | AAAT | intron_variant | MODIFIER | HG01952.hp2 HG02165.hp2 HG02630.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0003g0033 others(6): Show |
9 | 76 | 0.1184 | 3 | c.661 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70440282 | C | CCTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0058 a0001c0001t0009g0023 |
2 | 76 | 0.0263 | 3 | c.690 others(20): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70496606 | C | CCCT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00597.hp1 others(26): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0003g0035 others(26): Show |
29 | 76 | 0.3816 | 3 | c.690 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70503516 | A | ATTT | intron_variant | MODIFIER | HG00597.hp1 HG01081.hp2 HG01175.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0071 a0001c0001t0004g0042 a0001c0001t0005g0015 others(3): Show |
6 | 34 | 0.1765 | 3 | c.690 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70528103 | T | TTTA | intron_variant | MODIFIER | HG02258.hp2 HG02630.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0019a0001c0001t0023others(2): Show | a0001c0001t0001g0073 a0001c0001t0019g0076 a0001c0001t0023g0075 others(2): Show |
5 | 73 | 0.0685 | 3 | c.690 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70536572 | C | CTTT | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG02257.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0036 a0001c0001t0004g0054 a0001c0001t0006g0010 others(4): Show |
7 | 26 | 0.2692 | 3 | c.690 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70585875 | T | TTTA | intron_variant | MODIFIER | HG00597.hp1 HG02647.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0035 | a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0002g0049 others(1): Show |
4 | 57 | 0.0702 | 3 | c.691 others(24): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 70605546 | C | CTTT | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01433.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0037 a0001c0001t0002g0047 a0001c0001t0003g0061 others(7): Show |
10 | 36 | 0.2778 | 3 | c.691 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70609959 | T | TTTG | intron_variant | MODIFIER | HG00597.hp1 HG02622.hp1 HG02886.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0071 a0001c0001t0002g0049 a0001c0001t0003g0072 others(4): Show |
7 | 29 | 0.2414 | 3 | c.691 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70615565 | C | CTTG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00741.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(15): Show | a0001c0001t0001g0044 a0001c0001t0005g0012 a0001c0001t0005g0015 others(18): Show |
21 | 39 | 0.5385 | 3 | c.691 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70621838 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG01243.hp2 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0026 a0001c0001t0001g0074 a0001c0001t0002g0045 others(22): Show |
25 | 36 | 0.6944 | 3 | c.691 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70633610 | C | CAAA | intron_variant | MODIFIER | HG02257.hp1 HG03225.hp1 NA19030.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0004a0001c0001t0016a0001c0004t0013others(1): Show | a0001c0001t0004g0048 a0001c0001t0016g0003 a0001c0004t0013g0024 others(1): Show |
4 | 21 | 0.1905 | 3 | c.691 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70639616 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00741.hp2 others(29): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0058 others(29): Show |
32 | 39 | 0.8205 | 3 | c.691 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70640421 | G | GAAA | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01934.hp1 others(18): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0032 a0001c0001t0001g0071 a0001c0001t0001g0073 others(18): Show |
21 | 31 | 0.6774 | 3 | c.691 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70656453 | G | GAAC | intron_variant | MODIFIER | HG00597.hp2 HG01081.hp1 HG01175.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0037 others(9): Show |
12 | 76 | 0.1579 | 3 | c.691 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70691874 | A | ATTT | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG02055.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0071 a0001c0001t0002g0045 a0001c0001t0002g0047 others(7): Show |
10 | 21 | 0.4762 | 3 | c.691 others(20): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70697560 | T | TCCC | intron_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG01243.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0036 a0001c0001t0003g0033 a0001c0001t0005g0012 others(5): Show |
8 | 31 | 0.2581 | 3 | c.691 others(19): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70721083 | T | TTAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0071 others(27): Show |
30 | 76 | 0.3947 | 3 | c.742 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70726343 | T | TAAA | intron_variant | MODIFIER | HG00597.hp2 HG01934.hp1 HG02257.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0045 a0001c0001t0002g0052 a0001c0001t0003g0033 others(6): Show |
9 | 60 | 0.1500 | 3 | c.742 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70730225 | T | TTTG | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00597.hp2 others(13): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0034 a0001c0001t0001g0071 a0001c0001t0002g0045 others(13): Show |
16 | 76 | 0.2105 | 3 | c.742 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70747988 | A | ATTT | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02055.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0073 a0001c0001t0002g0047 a0001c0001t0002g0062 others(14): Show |
17 | 38 | 0.4474 | 3 | c.743 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70750330 | C | CTTT | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00741.hp1 others(28): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0034 a0001c0001t0001g0071 a0001c0001t0001g0073 others(28): Show |
31 | 62 | 0.5000 | 3 | c.743 others(22): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70757807 | C | CTTT | intron_variant | MODIFIER | HG02165.hp2 HG02257.hp1 HG02622.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0010 | a0001c0001t0004a0001c0001t0015a0001c0001t0022others(2): Show | a0001c0001t0004g0048 a0001c0001t0015g0002 a0001c0001t0022g0031 others(2): Show |
5 | 10 | 0.5000 | 3 | c.743 others(20): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70777251 | A | AAGG | intron_variant | MODIFIER | HG02622.hp1 HG03041.hp1 |
a0001a0002 | a0001c0005a0002c0010 | a0001c0005t0030a0002c0010t0033 | a0001c0005t0030g0013 a0002c0010t0033g0014 |
2 | 76 | 0.0263 | 3 | c.200 others(18): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70792143 | C | CTGA | 3_prime_UTR_variant | MODIFIER | HG03540.hp1 HG03704.hp1 NA19030.hp2 others(1): Show |
a0001a0002 | a0001c0004a0001c0008a0002c0002 | a0001c0004t0012a0001c0004t0013a0001c0008t0017others(1): Show | a0001c0004t0012g0025 a0001c0004t0013g0024 a0001c0008t0017g0046 others(1): Show |
4 | 76 | 0.0526 | 3 | c.*11 others(14): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 19/19 | 1153 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AVEN_chr15_33861227_34044204 | 33873094 | C | CTTT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01109.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0008 | a0001c0001t0001a0002c0002t0001a0004c0008t0001 | a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0200 others(9): Show |
12 | 192 | 0.0625 | 3 | c.517 others(20): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 3/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33876185 | A | ATTT | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02622.hp2 others(12): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0004c0004t0001others(2): Show | a0001c0001t0001g0057 a0001c0001t0001g0078 a0001c0001t0001g0088 others(12): Show |
15 | 264 | 0.0568 | 3 | c.446 others(18): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33882561 | T | TAAA | intron_variant | MODIFIER | HG00741.hp1 HG01884.hp2 HG02809.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0003 | a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0055 others(9): Show |
12 | 81 | 0.1481 | 3 | c.446 others(20): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33893951 | A | ATTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(109): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0037 others(108): Show |
112 | 150 | 0.7467 | 3 | c.446 others(22): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33900627 | C | CAAA | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01109.hp2 others(15): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 others(15): Show |
18 | 138 | 0.1304 | 3 | c.446 others(22): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33902158 | C | CAAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0012a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 others(208): Show |
212 | 264 | 0.8030 | 3 | c.446 others(22): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33922441 | T | TTTA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02109.hp1 others(8): Show |
a0001a0004 | a0001c0001a0004c0004a0004c0008 | a0001c0001t0001a0001c0001t0004a0004c0004t0001others(1): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(8): Show |
11 | 91 | 0.1209 | 3 | c.446 others(22): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33923974 | T | TATG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(173): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0032 others(173): Show |
176 | 264 | 0.6667 | 3 | c.446 others(22): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33926136 | A | AAAG | intron_variant | MODIFIER | HG00140.hp2 HG02145.hp2 HG02572.hp1 others(7): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0011 | a0001c0001t0001a0003c0003t0003a0006c0011t0001 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0058 others(7): Show |
10 | 264 | 0.0379 | 3 | c.446 others(22): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33927256 | A | AAAT | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG01070.hp2 others(14): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0010 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0044 others(14): Show |
17 | 252 | 0.0675 | 3 | c.446 others(22): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33981435 | A | AAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(167): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0012a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(166): Show |
170 | 264 | 0.6439 | 3 | c.445 others(22): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34014367 | T | TAAA | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057 others(5): Show |
8 | 192 | 0.0417 | 3 | c.268 others(22): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34017497 | T | TTTG | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG01891.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0190 others(6): Show |
9 | 173 | 0.0520 | 3 | c.268 others(22): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34027528 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG01069.hp2 HG01106.hp2 others(11): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0003a0003c0007t0003 | a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0004 others(10): Show |
14 | 175 | 0.0800 | 3 | c.267 others(22): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 34027825 | C | CAAA | intron_variant | MODIFIER | HG02451.hp1 HG02886.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0005g0024 others(2): Show |
5 | 194 | 0.0258 | 3 | c.267 others(22): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 1/5 | chr15 | TogoVar |