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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN7L1_chr7_105599772_105881599 | 105860138 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01168.hp1 HG01433.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0223 others(8): Show |
11 | 250 | 0.0440 | -10 | c.250 others(29): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L3B_chr12_74532835_74550430 | 74536670 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02451.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0013a0001c0002t0020others(1): Show | a0001c0002t0012g0000 a0001c0002t0013g0000 a0001c0002t0020g0000 others(1): Show |
9 | 10 | 0.9000 | -10 | c.-14 others(21): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1164 | chr12 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63884203 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01934.hp2 HG02145.hp1 others(12): Show |
a0002a0004 | a0002c0002a0004c0006a0004c0027 | a0002c0002t0039a0004c0006t0004a0004c0027t0004 | a0002c0002t0039g0034 a0004c0006t0004g0003 a0004c0006t0004g0028 others(11): Show |
15 | 79 | 0.1899 | -10 | c.-11 others(31): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63884232 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0014 | a0014c0033 | a0014c0033t0003 | a0014c0033t0003g0207 | 1 | 298 | 0.0034 | -10 | c.-11 others(31): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63940285 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG01192.hp2 NA18957.hp1 NA19011.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0035a0002c0003t0002 | a0002c0002t0035g0076 a0002c0003t0002g0293 a0002c0003t0002g0294 |
3 | 125 | 0.0240 | -10 | c.395 others(29): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATXN7_chr3_63858867_64008462 | 63964073 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02886.hp2 NA18953.hp1 NA18982.hp2 others(1): Show |
a0002a0003a0004 | a0002c0003a0003c0025a0004c0012 | a0002c0003t0002a0003c0025t0002a0004c0012t0005 | a0002c0003t0002g0218 a0002c0003t0002g0262 a0003c0025t0002g0257 others(1): Show |
4 | 72 | 0.0556 | -10 | c.499 others(29): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91359580 | AAAAAGAA others(3): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 a0001c0001t0001g0329 a0001c0001t0001g0330 |
3 | 356 | 0.0084 | -10 | c.262 others(27): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
AUNIP_chr1_25829006_25864457 | 25835277 | GTTTCACT others(3): Show |
G | frameshift_variant | HIGH | HG01175.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0139 | 1 | 350 | 0.0029 | -10 | c.780 others(17): Show |
p.Glu others(5): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 3/3 | 889/2161 | 780/1074 | 260/357 | chr1 | TogoVar | |||
AUNIP_chr1_25829006_25864457 | 25860896 | TTATGTGT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 335 | 0.0030 | -10 | c.-15 others(21): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1440 | chr1 | TogoVar | |||||||
AUNIP_chr1_25829006_25864457 | 25860898 | ATGTGTGT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(98): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0010others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(62): Show |
101 | 173 | 0.5838 | -10 | c.-15 others(21): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1442 | chr1 | TogoVar | |||||||
AUNIP_chr1_25829006_25864457 | 25862012 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0209 a0001c0001t0004g0210 |
2 | 180 | 0.0111 | -10 | c.-26 others(21): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 2556 | chr1 | TogoVar | |||||||
AURKA_chr20_56364390_56397215 | 56374016 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG03471.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0187 a0001c0001t0004g0195 |
2 | 208 | 0.0096 | -10 | c.706 others(25): Show |
AURKA | ENSG00000087586.18 | transcript | ENST00000395915.8 | protein_coding | 6/8 | chr20 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69602040 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG01934.hp2 | a0003 | a0003c0011 | a0003c0011t0007 | a0003c0011t0007g0004 | 1 | 50 | 0.0200 | -10 | 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 | 69614775 | CGCCCATC others(3): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02886.hp2 HG03540.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0009a0001c0003t0027a0002c0002t0031 | a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0003t0027g0009 others(1): Show |
4 | 76 | 0.0526 | -10 | c.309 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69671486 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0024 | 1 | 27 | 0.0370 | -10 | c.309 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69806197 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG01934.hp1 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0072 others(3): Show |
6 | 29 | 0.2069 | -10 | c.310 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69876345 | AAAAAATA others(3): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 70 | 0.0143 | -10 | c.310 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69876347 | AAAATATA others(3): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 63 | 0.0159 | -10 | c.310 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69876484 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00597.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0071 others(4): Show |
7 | 12 | 0.5833 | -10 | c.310 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69888540 | GATATATA others(3): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0059 | 1 | 11 | 0.0909 | -10 | c.310 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69891774 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 3 | 0.3333 | -10 | c.310 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69914356 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0002 | 1 | 10 | 0.1000 | -10 | 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 | 69946557 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00741.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0062 a0001c0001t0007g0040 |
2 | 3 | 0.6667 | -10 | 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 | 69978859 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | NA20752.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016 | a0001c0001t0015g0002 a0001c0001t0016g0003 |
2 | 8 | 0.2500 | -10 | 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 | 70011314 | TCTCTCCT others(3): Show |
T | intron_variant | MODIFIER | HG01952.hp2 HG02055.hp2 HG02615.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0032others(7): Show | a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0009g0006 others(9): Show |
12 | 30 | 0.4000 | -10 | c.523 others(31): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70043591 | TCCTTCCT others(3): Show |
T | intron_variant | MODIFIER | HG01934.hp2 | a0003 | a0003c0011 | a0003c0011t0007 | a0003c0011t0007g0004 | 1 | 76 | 0.0132 | -10 | c.523 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 70125245 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01175.hp1 others(21): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0034 others(21): Show |
24 | 44 | 0.5455 | -10 | c.624 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70181323 | TGGCGTGA others(3): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0029 | 1 | 76 | 0.0132 | -10 | c.660 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 70224331 | GTACAATA others(3): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01934.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0044 others(9): Show |
12 | 22 | 0.5455 | -10 | c.660 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70243231 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01952.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0009a0001c0001t0028others(1): Show | a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 others(3): Show |
6 | 18 | 0.3333 | -10 | c.660 others(31): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70311545 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0051 | 1 | 76 | 0.0132 | -10 | c.661 others(31): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70377325 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 12 | 0.0833 | -10 | 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 | 70437837 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0069 | 1 | 66 | 0.0152 | -10 | c.690 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70515371 | GAGGATTT others(3): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0047 a0001c0001t0004g0048 |
2 | 76 | 0.0263 | -10 | 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 | 70613231 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 76 | 0.0132 | -10 | 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 | 70715502 | GTCTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 76 | 0.0132 | -10 | c.742 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70715507 | TTTTTCTT others(3): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0003 | a0001c0003t0027 | a0001c0003t0027g0009 | 1 | 15 | 0.0667 | -10 | c.742 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70723434 | GCCAAACT others(3): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011 | a0001c0001t0010g0065 a0001c0001t0011g0041 |
2 | 76 | 0.0263 | -10 | c.742 others(29): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70784742 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01081.hp1 others(16): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0073 others(16): Show |
19 | 34 | 0.5588 | -10 | c.214 others(27): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70796445 | ATTTTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01081.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0001g0037 a0001c0001t0005g0015 a0001c0001t0009g0023 others(1): Show |
4 | 5 | 0.8000 | -10 | c.*54 others(21): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2940 | chr7 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33868544 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 76 | 0.0132 | -10 | c.613 others(25): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33894822 | ATAATAAC others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp1 NA18993.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0217 a0002c0002t0001g0150 |
2 | 262 | 0.0076 | -10 | c.446 others(29): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33899460 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG02083.hp1 HG02451.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 others(11): Show |
14 | 19 | 0.7368 | -10 | c.446 others(29): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33901878 | CTAACAGT others(3): Show |
C | 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 | -10 | c.446 others(29): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33905821 | GGAAAGAA others(3): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 264 | 0.0038 | -10 | c.446 others(29): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33931349 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 3 | 0.3333 | -10 | c.446 others(29): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33933516 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0087 |
2 | 261 | 0.0077 | -10 | c.446 others(29): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33933518 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 251 | 0.0040 | -10 | c.446 others(29): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33933520 | CACACAGA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 a0001c0001t0001g0249 |
2 | 168 | 0.0119 | -10 | c.446 others(29): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33933524 | CAGAGAGA others(3): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01891.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0094 a0001c0001t0001g0215 others(1): Show |
4 | 191 | 0.0209 | -10 | c.446 others(29): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar |