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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN1_chr6_16294112_16766460 | 16704459 | G | GAAGTAAG others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp2 others(19): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0034a0002c0003others(8): Show | a0001c0001t0001a0001c0034t0004a0002c0003t0021others(13): Show | a0001c0001t0001g0045 a0001c0001t0001g0123 a0001c0001t0001g0178 others(19): Show |
22 | 180 | 0.1222 | 15 | c.-61 others(36): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 2/7 | chr6 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111553604 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0240 | 1 | 54 | 0.0185 | 15 | c.348 others(30): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111576085 | A | AATAACAT others(8): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02622.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0028 a0001c0003t0001g0207 |
2 | 250 | 0.0080 | 15 | c.252 others(34): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111576137 | T | TAACATAA others(8): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01433.hp1 others(13): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0016others(1): Show | a0001c0001t0004a0002c0002t0001a0002c0016t0001others(1): Show | a0001c0001t0004g0283 a0002c0002t0001g0033 a0002c0002t0001g0055 others(13): Show |
16 | 167 | 0.0958 | 15 | c.252 others(34): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111588991 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18981.hp1 NA18991.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0091 others(1): Show |
4 | 27 | 0.1481 | 15 | c.251 others(32): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111592782 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 78 | 0.0128 | 15 | c.251 others(32): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92071010 | C | CCTGCTGC others(8): Show |
conservative_inframe_insertion | MODERATE | HG00408.hp2 HG02040.hp1 HG02165.hp1 others(21): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0073a0003c0004t0074 | a0003c0004t0005g0001 a0003c0004t0005g0009 a0003c0004t0005g0093 others(17): Show |
24 | 125 | 0.1920 | 15 | c.901 others(22): Show |
p.Gln others(13): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 945/6884 | 915/1086 | 305/361 | chr14 | TogoVar | |||
ATXN3_chr14_92053552_92111582 | 92071020 | C | CTGCTGCT others(8): Show |
disruptive_inframe_insertion | MODERATE | HG02257.hp2 HG02559.hp1 HG02896.hp1 others(1): Show |
a0003 | a0003c0026 | a0003c0026t0017 | a0003c0026t0017g0020 a0003c0026t0017g0021 a0003c0026t0017g0022 others(1): Show |
4 | 396 | 0.0101 | 15 | c.891 others(22): Show |
p.Gln others(13): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 935/6884 | 905/1086 | 302/361 | chr14 | TogoVar | |||
ATXN3_chr14_92053552_92111582 | 92100200 | A | AATTATGT others(8): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0041 | 1 | 400 | 0.0025 | 15 | c.25- others(30): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105619140 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01978.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0002g0017 others(7): Show |
10 | 20 | 0.5000 | 15 | c.151 others(34): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105671104 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0019 | 1 | 54 | 0.0185 | 15 | c.356 others(32): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105727767 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01516.hp2 HG01517.hp1 others(6): Show |
a0001a0007 | a0001c0001a0001c0008a0007c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0003g0053 others(6): Show |
9 | 200 | 0.0450 | 15 | c.355 others(34): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105731748 | A | AAAAAGAA others(8): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01167.hp2 others(19): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0119 a0001c0001t0001g0218 a0001c0001t0001g0235 others(19): Show |
22 | 73 | 0.3014 | 15 | c.355 others(34): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105771201 | G | GATAATAA others(8): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0029 a0001c0001t0002g0106 |
2 | 21 | 0.0952 | 15 | c.355 others(34): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105790654 | C | CTATCATC others(8): Show |
intron_variant | MODIFIER | NA19060.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0050 a0001c0001t0006g0248 |
2 | 232 | 0.0086 | 15 | c.251 others(32): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ATXN7L3B_chr12_74532835_74550430 | 74536670 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 HG01981.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0000 a0001c0001t0003g0000 |
3 | 4 | 0.7500 | 15 | c.-14 others(26): Show |
ATXN7L3B | ENSG00000253719.4 | transcript | ENST00000519948.4 | protein_coding | 1164 | chr12 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63863797 | C | CGCGGCGG others(8): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0002 | a0002c0002t0035 | a0002c0002t0035g0076 | 1 | 285 | 0.0035 | 15 | c.-47 others(24): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 69 | chr3 | TogoVar | |||||||
ATXN7_chr3_63858867_64008462 | 63912684 | G | GGCAGCAG others(8): Show |
disruptive_inframe_insertion | MODERATE | NA18946.hp1 | a0019 | a0019c0019 | a0019c0019t0003 | a0019c0019t0003g0166 | 1 | 207 | 0.0048 | 15 | c.104 others(22): 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 | 63912714 | A | AGCAGCAG others(8): Show |
disruptive_inframe_insertion | MODERATE | NA19030.hp2 | a0022 | a0022c0020 | a0022c0020t0021 | a0022c0020t0021g0009 | 1 | 288 | 0.0035 | 15 | c.118 others(22): Show |
p.Gln others(26): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 3/13 | 521/7076 | 119/2679 | 40/892 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
AUTS2_chr7_69593475_70798506 | 69730019 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0036 | a0002c0002t0036g0017 | 1 | 59 | 0.0169 | 15 | c.309 others(36): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69850398 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0008 | a0001c0008t0017 | a0001c0008t0017g0046 | 1 | 3 | 0.3333 | 15 | c.310 others(34): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69872834 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03041.hp1 HG03139.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0010 | a0001c0001t0005a0001c0001t0009a0001c0005t0030others(1): Show | a0001c0001t0005g0012 a0001c0001t0009g0006 a0001c0005t0030g0013 others(1): Show |
4 | 27 | 0.1481 | 15 | c.310 others(34): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70003172 | T | TTATATGA others(8): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0027 | 1 | 63 | 0.0159 | 15 | c.522 others(36): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70003210 | A | ATATATTA others(8): Show |
intron_variant | MODIFIER | HG02257.hp2 NA19030.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0012a0001c0004t0013 | a0001c0001t0006g0010 a0001c0004t0012g0025 a0001c0004t0013g0024 |
3 | 76 | 0.0395 | 15 | c.522 others(36): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70003405 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0071 a0001c0001t0003g0068 |
2 | 76 | 0.0263 | 15 | c.522 others(36): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70011314 | T | TCTCTCCT others(8): Show |
intron_variant | MODIFIER | HG03225.hp1 NA18612.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0036 | a0001c0001t0001g0034 a0002c0002t0036g0017 |
2 | 20 | 0.1000 | 15 | c.523 others(36): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70053544 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG02615.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0010 | a0001c0001t0005a0001c0001t0009a0001c0001t0028others(5): Show | a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0020 others(7): Show |
10 | 37 | 0.2703 | 15 | c.523 others(34): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70340163 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0029 | 1 | 35 | 0.0286 | 15 | c.661 others(34): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 70579244 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02886.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0002a0001c0001t0010a0001c0003t0027others(1): Show | a0001c0001t0002g0062 a0001c0001t0010g0065 a0001c0003t0027g0009 others(1): Show |
4 | 11 | 0.3636 | 15 | c.691 others(36): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33871774 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 a0001c0001t0002g0202 |
2 | 167 | 0.0120 | 15 | c.517 others(30): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 3/5 | chr15 | TogoVar | |||||||
AVIL_chr12_57792380_57823734 | 57818182 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 22 | 0.0455 | 15 | c.-20 others(30): Show |
AVIL | ENSG00000135407.11 | transcript | ENST00000549994.2 | protein_coding | 1/19 | chr12 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32503406 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0004 | a0001c0004t0077 | a0001c0004t0077g0316 | 1 | 323 | 0.0031 | 15 | c.93+ others(30): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32545364 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0312 | 1 | 109 | 0.0092 | 15 | c.300 others(30): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32551605 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0008 | a0001c0008t0093 | a0001c0008t0093g0056 | 1 | 56 | 0.0179 | 15 | c.462 others(30): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32572801 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03704.hp1 HG03710.hp2 |
a0002 | a0002c0003 | a0002c0003t0005a0002c0003t0012 | a0002c0003t0005g0116 a0002c0003t0012g0115 |
2 | 56 | 0.0357 | 15 | c.135 others(32): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32579615 | T | TATATATT others(8): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0068 | 1 | 328 | 0.0030 | 15 | c.168 others(32): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVPI1_chr10_97672424_97692241 | 97679000 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 441 | 0.0023 | 15 | c.287 others(30): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AXDND1_chr1_179360971_179559735 | 179486139 | A | AAAAAAAC others(8): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01074.hp1 HG01106.hp2 others(14): Show |
a0002a0004 | a0002c0001a0002c0020a0004c0005 | a0002c0001t0001a0002c0020t0001a0004c0005t0001 | a0002c0001t0001g0105 a0002c0001t0001g0219 a0002c0001t0001g0222 others(14): Show |
17 | 146 | 0.1164 | 15 | c.209 others(34): Show |
AXDND1 | ENSG00000162779.22 | transcript | ENST00000367618.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AXIN1_chr16_282440_357723 | 283017 | G | GGTGTCGT others(8): Show |
downstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0211 | 1 | 172 | 0.0058 | 15 | c.*51 others(26): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 4422 | chr16 | TogoVar | |||||||
AXIN2_chr17_65523563_65566648 | 65538667 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0094 | 1 | 17 | 0.0588 | 15 | c.106 others(32): Show |
AXIN2 | ENSG00000168646.14 | transcript | ENST00000307078.10 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
AXL_chr19_41214223_41266766 | 41260298 | C | CTTTTTTT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0154 | 1 | 48 | 0.0208 | 15 | c.*41 others(24): Show |
AXL | ENSG00000167601.12 | transcript | ENST00000301178.9 | protein_coding | 20/20 | 426 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AZU1_chr19_822837_837018 | 823450 | A | AAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 HG04184.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0004 a0001c0004t0001g0004 |
2 | 211 | 0.0095 | 15 | c.-43 others(26): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 4386 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833275 | T | TAAGAAGA others(8): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 254 | 0.0079 | 15 | c.*13 others(26): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1258 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833278 | T | TAAGAAGA others(8): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0014 | 1 | 139 | 0.0072 | 15 | c.*14 others(26): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1261 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833278 | T | TAATAAGA others(8): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 139 | 0.0072 | 15 | c.*14 others(26): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1261 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 833278 | T | TAATAATA others(8): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0002 | 1 | 139 | 0.0072 | 15 | c.*14 others(26): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 1261 | chr19 | TogoVar | |||||||
B2M_chr15_44706517_44723145 | 44721693 | A | ACACCACC others(8): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(265): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(16): Show |
268 | 380 | 0.7053 | 15 | c.*41 others(26): Show |
B2M | ENSG00000166710.23 | transcript | ENST00000648006.3 | protein_coding | 3549 | chr15 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235471377 | T | TAAAATAA others(8): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0091 | 1 | 342 | 0.0029 | 15 | c.652 others(30): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALNT2_chr1_235442190_235509452 | 235474987 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 135 | 0.0074 | 15 | c.652 others(32): Show |
B3GALNT2 | ENSG00000162885.14 | transcript | ENST00000366600.8 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167385493 | A | ACCCATTA others(8): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0083 | 1 | 116 | 0.0086 | 15 | c.-51 others(36): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | chr2 | TogoVar |