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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP9A_chr20_51591514_51773390 | 51772010 | C | CAATCAGC others(20): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0044 | 1 | 310 | 0.0032 | 27 | c.-36 others(38): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 3621 | chr20 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79071399 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01981.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(1): Show |
4 | 5 | 0.8000 | 27 | c.119 others(44): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATRNL1_chr10_115088365_115953999 | 115856428 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0030 | 1 | 7 | 0.1429 | 27 | c.401 others(46): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ATRN_chr20_3466018_3656118 | 3512107 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0203 | 1 | 107 | 0.0093 | 27 | c.411 others(46): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ATRX_chrX_77499880_77791216 | 77585583 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0147 | 1 | 11 | 0.0909 | 27 | c.621 others(46): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 27/34 | chrX | TogoVar | |||||||
ATRX_chrX_77499880_77791216 | 77651217 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02080.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 a0001c0001t0002g0134 |
2 | 18 | 0.1111 | 27 | c.455 others(44): Show |
ATRX | ENSG00000085224.23 | transcript | ENST00000373344.11 | protein_coding | 15/34 | chrX | TogoVar | |||||||
ATR_chr3_142444235_142583733 | 142544452 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 112 | 0.0089 | 27 | c.335 others(46): Show |
ATR | ENSG00000175054.16 | transcript | ENST00000350721.9 | protein_coding | 16/46 | chr3 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16440648 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02895.hp2 HG03927.hp2 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0010a0002c0011others(2): Show | a0001c0001t0001a0001c0010t0004a0002c0011t0007others(2): Show | a0001c0001t0001g0037 a0001c0010t0004g0069 a0002c0011t0007g0019 others(2): Show |
5 | 114 | 0.0439 | 27 | c.-16 others(48): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN1_chr6_16294112_16766460 | 16440648 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02895.hp1 NA18944.hp1 others(3): Show |
a0002a0004 | a0002c0004a0004c0005a0004c0006 | a0002c0004t0003a0004c0005t0002a0004c0005t0032others(2): Show | a0002c0004t0003g0057 a0004c0005t0002g0167 a0004c0005t0032g0099 others(3): Show |
6 | 115 | 0.0522 | 27 | c.-16 others(48): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
ATXN2L_chr16_28817999_28842232 | 28822935 | G | GCCCCCCC others(20): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 111 | 0.0090 | 27 | c.-32 others(36): Show |
ATXN2L | ENSG00000168488.19 | transcript | ENST00000336783.9 | protein_coding | 63 | chr16 | TogoVar | |||||||
ATXN2_chr12_111447214_111604315 | 111588991 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18955.hp2 NA19070.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0032 a0002c0002t0001g0094 |
2 | 25 | 0.0800 | 27 | c.251 others(44): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ATXN3_chr14_92053552_92111582 | 92071010 | C | CCTGCTGC others(20): Show |
conservative_inframe_insertion | MODERATE | HG00140.hp1 HG00280.hp1 HG00735.hp2 others(41): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0003a0002c0002t0050a0002c0002t0066others(3): Show | a0002c0002t0003g0002 a0002c0002t0003g0011 a0002c0002t0003g0012 others(36): Show |
44 | 145 | 0.3034 | 27 | c.915 others(34): Show |
p.Gln others(13): Show |
ATXN3 | ENSG00000066427.25 | transcript | ENST00000644486.2 | protein_coding | 10/11 | 945/6884 | 915/1086 | 305/361 | chr14 | TogoVar | |||
ATXN7L1_chr7_105599772_105881599 | 105619140 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0046 | 1 | 11 | 0.0909 | 27 | c.151 others(46): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 9/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105648930 | G | GTCTAATC others(20): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02723.hp1 others(14): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0217 a0001c0001t0004g0135 a0001c0001t0004g0137 others(14): Show |
17 | 250 | 0.0680 | 27 | c.579 others(44): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 4/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105731748 | A | AAAAAGAA others(20): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG00741.hp2 others(37): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0050 others(37): Show |
40 | 91 | 0.4396 | 27 | c.355 others(46): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105740784 | T | TTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0031 | 1 | 91 | 0.0110 | 27 | c.355 others(46): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 69872834 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0021 | 1 | 24 | 0.0417 | 27 | c.310 others(46): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70185257 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0040 | 1 | 28 | 0.0357 | 27 | c.660 others(46): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AVEN_chr15_33861227_34044204 | 33899460 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 a0001c0001t0001g0240 |
2 | 7 | 0.2857 | 27 | c.446 others(46): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32503406 | A | ACACACAC others(20): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0285 | 1 | 323 | 0.0031 | 27 | c.93+ others(42): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 834904 | C | CGTGATCC others(20): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 390 | 0.0026 | 27 | c.*30 others(38): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 2887 | chr19 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167387012 | C | CATCATAT others(20): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0018 | a0001c0001t0002g0094 a0001c0001t0013g0091 a0001c0001t0018g0093 |
3 | 107 | 0.0280 | 27 | c.-51 others(48): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0021 | 1 | 39 | 0.0256 | 27 | c.-38 others(38): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 NA18984.hp2 NA19057.hp2 |
a0001a0002a0007 | a0001c0001a0002c0008a0007c0012 | a0001c0001t0001a0002c0008t0002a0007c0012t0004 | a0001c0001t0001g0152 a0002c0008t0002g0065 a0007c0012t0004g0061 |
3 | 41 | 0.0732 | 27 | c.-38 others(38): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 HG01106.hp1 HG01167.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0005a0004c0004t0004 | a0001c0001t0005g0205 a0004c0004t0004g0203 a0004c0004t0004g0206 others(1): Show |
4 | 42 | 0.0952 | 27 | c.-38 others(38): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 HG04184.hp2 NA18747.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0104 a0001c0001t0001g0194 a0002c0002t0003g0079 |
3 | 41 | 0.0732 | 27 | c.-38 others(38): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GLCT_chr13_31194975_31337276 | 31196207 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003 | 1 | 39 | 0.0256 | 27 | c.-38 others(38): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3767 | chr13 | TogoVar | |||||||
B3GNT5_chr3_183248253_183278385 | 183269230 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0158 a0001c0001t0004g0162 |
2 | 186 | 0.0108 | 27 | c.-30 others(44): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83039548 | G | GGCGCCTG others(20): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02559.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0012a0001c0011t0010a0001c0011t0017 | a0001c0001t0012g0149 a0001c0011t0010g0148 a0001c0011t0017g0146 |
3 | 266 | 0.0113 | 27 | c.233 others(44): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 3/12 | chr17 | TogoVar | |||||||
B4GALNT3_chr12_454939_568509 | 500865 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG00741.hp2 others(21): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0242 a0001c0001t0001g0264 a0001c0001t0001g0375 others(21): Show |
24 | 44 | 0.5455 | 27 | c.170 others(46): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 370003 | G | GGGCGCGG others(20): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG01978.hp1 others(15): Show |
a0002a0003a0007others(1): Show | a0002c0002a0002c0008a0002c0037others(3): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001others(4): Show | a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0149 others(15): Show |
18 | 161 | 0.1118 | 27 | c.151 others(40): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 372542 | C | CGGGCATT others(20): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0091 | 1 | 182 | 0.0055 | 27 | c.256 others(41): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374774 | G | GGAGGAGG others(20): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0055 | 1 | 180 | 0.0056 | 27 | c.784 others(42): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | chr11 | TogoVar | |||||||
B4GALT5_chr20_49627945_49718878 | 49643922 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0174 a0001c0001t0006g0177 |
2 | 54 | 0.0370 | 27 | c.365 others(42): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 3/8 | chr20 | TogoVar | |||||||
BABAM2_chr2_27885729_28343901 | 28112169 | C | CCCTTCCT others(20): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 153 | 0.0065 | 27 | c.571 others(46): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28112173 | C | CCCTTCCT others(20): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 150 | 0.0067 | 27 | c.571 others(46): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28112181 | C | CCCTTCCT others(20): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 139 | 0.0072 | 27 | c.571 others(46): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28176569 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02148.hp2 HG03486.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0042 a0001c0001t0001g0091 a0001c0001t0002g0103 |
3 | 7 | 0.4286 | 27 | c.680 others(46): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 90092291 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01261.hp1 NA18946.hp1 NA18979.hp1 |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0080a0001c0003t0062a0001c0005t0073 | a0001c0002t0080g0075 a0001c0003t0062g0048 a0001c0005t0073g0077 |
3 | 102 | 0.0294 | 27 | c.-16 others(46): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90103029 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0041a0001c0001t0137 | a0001c0001t0041g0015 a0001c0001t0137g0194 |
2 | 54 | 0.0370 | 27 | c.-16 others(48): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BAG3_chr10_119646380_119682819 | 119675895 | T | TCCTTCCT others(20): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0125 | 1 | 357 | 0.0028 | 27 | c.910 others(42): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02970.hp1 HG04184.hp2 NA18946.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0218 a0001c0002t0001g0266 a0001c0002t0001g0272 |
3 | 160 | 0.0188 | 27 | c.128 others(44): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00280.hp1 NA18951.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0223 a0001c0002t0001g0235 |
2 | 159 | 0.0126 | 27 | c.128 others(44): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98357020 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00408.hp1 HG04115.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0277 a0001c0002t0001g0296 |
2 | 159 | 0.0126 | 27 | c.128 others(44): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BAIAP2_chr17_81030151_81122434 | 81055569 | G | GGTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02273.hp1 NA18960.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0044a0002c0002t0002 | a0001c0001t0044g0094 a0002c0002t0002g0131 a0002c0002t0002g0134 |
3 | 259 | 0.0116 | 27 | c.130 others(44): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2/13 | chr17 | TogoVar | |||||||
BAMBI_chr10_28672521_28687932 | 28683987 | C | CAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01167.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0036 others(1): Show |
9 | 140 | 0.0643 | 27 | c.*15 others(38): Show |
BAMBI | ENSG00000095739.11 | transcript | ENST00000375533.6 | protein_coding | 1056 | chr10 | TogoVar | |||||||
BANK1_chr4_101785730_102079812 | 102007066 | T | TTATATAT others(20): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02723.hp2 HG02809.hp2 others(4): Show |
a0001a0005 | a0001c0002a0005c0006 | a0001c0002t0003a0005c0006t0003 | a0001c0002t0003g0166 a0001c0002t0003g0231 a0001c0002t0003g0233 others(4): Show |
7 | 281 | 0.0249 | 27 | c.120 others(48): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 102007070 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0006 | 1 | 277 | 0.0036 | 27 | c.120 others(48): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BARHL2_chr1_90706539_90722302 | 90719504 | G | GAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG02135.hp1 NA18946.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0005t0001g0089 |
6 | 20 | 0.3000 | 27 | c.-23 others(38): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2203 | chr1 | TogoVar | |||||||
BASP1_chr5_17212631_17281834 | 17275958 | T | TCTCTCTC others(20): Show |
3_prime_UTR_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0078 | 1 | 368 | 0.0027 | 27 | c.*68 others(34): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 2/2 | 69 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |