view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3945): Show |
intron_variant | MODIFIER | HG00280.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0021 | a0001c0001t0012g0142a0001c0001t0021g0088 | 2 | 175 | 0.0114 | 3952 | c.164 others(3971): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3945): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01928.hp2 |
a0002 | a0002c0008a0002c0009 | a0002c0008t0001a0002c0009t0001 | a0002c0008t0001g0135a0002c0009t0001g0318 | 2 | 366 | 0.0055 | 3952 | c.641 others(3967): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3945): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0317 | 1 | 366 | 0.0027 | 3952 | c.641 others(3967): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3946): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 390 | 0.0026 | 3953 | c.859 others(3970): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3946): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 390 | 0.0026 | 3953 | c.859 others(3970): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3946): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 390 | 0.0026 | 3953 | c.859 others(3970): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(3946): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0246 | 1 | 268 | 0.0037 | 3953 | c.137 others(3970): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(3946): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0141 | 1 | 268 | 0.0037 | 3953 | c.137 others(3970): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3946): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0002 | a0002c0023 | a0002c0023t0001 | a0002c0023t0001g0175 | 1 | 366 | 0.0027 | 3953 | c.641 others(3968): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3947): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 390 | 0.0026 | 3954 | c.859 others(3971): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3947): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 390 | 0.0026 | 3954 | c.859 others(3971): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3947): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 390 | 0.0026 | 3954 | c.859 others(3971): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(3947): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0136 | 1 | 276 | 0.0036 | 3954 | c.*52 others(3965): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3947): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0099 | 1 | 186 | 0.0054 | 3954 | c.723 others(3971): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(3947): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 356 | 0.0028 | 3954 | c.114 others(3971): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3948): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0211 | 1 | 390 | 0.0026 | 3955 | c.859 others(3972): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3948): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0212a0001c0001t0007g0213 | 2 | 390 | 0.0051 | 3955 | c.859 others(3972): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3948): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02723.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0024 | a0001c0001t0007g0345a0001c0001t0007g0347a0001c0001t0007g0349others(1): Show | 4 | 390 | 0.0103 | 3955 | c.859 others(3972): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(3948): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 334 | 0.0030 | 3955 | c.147 others(3972): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3949): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0210 | 1 | 390 | 0.0026 | 3956 | c.859 others(3973): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3949): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0215 | 1 | 390 | 0.0026 | 3956 | c.859 others(3973): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3949): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0346 | 1 | 390 | 0.0026 | 3956 | c.859 others(3973): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716506 | G | GTGGTGTC others(3949): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0081 | 1 | 170 | 0.0059 | 3956 | c.86- others(3967): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGGAAGGG others(3949): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0005 | a0005c0018 | a0005c0018t0001 | a0005c0018t0001g0118 | 1 | 186 | 0.0054 | 3956 | c.723 others(3973): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3949): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 251 | 0.0040 | 3956 | c.-45 others(3965): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(3949): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0047 | 1 | 62 | 0.0161 | 3956 | c.*13 others(3969): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3950): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0216a0001c0001t0013g0219a0001c0001t0013g0220 | 3 | 390 | 0.0077 | 3957 | c.859 others(3974): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3950): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0350 | 1 | 390 | 0.0026 | 3957 | c.859 others(3974): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3950): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0217 | 1 | 390 | 0.0026 | 3957 | c.859 others(3974): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
FKBP15_chr9_113156006_113226277 | 113178576 | T | TAATTCCT others(3950): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0006 | a0002c0006t0007 | a0002c0006t0007g0289 | 1 | 410 | 0.0024 | 3957 | c.208 others(3972): Show |
FKBP15 | ENSG00000119321.10 | transcript | ENST00000238256.8 | protein_coding | 20/27 | chr9 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3950): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00639.hp2 others(10): Show |
a0001a0002a0015 | a0001c0005a0001c0011a0001c0042others(2): Show | a0001c0005t0001a0001c0011t0001a0001c0042t0001others(2): Show | a0001c0005t0001g0031a0001c0005t0001g0032a0001c0005t0001g0033others(10): Show | 13 | 366 | 0.0355 | 3957 | c.641 others(3972): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3950): Show |
upstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 251 | 0.0040 | 3957 | c.-45 others(3966): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3951): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02615.hp1 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0028a0001c0001t0015g0028a0001c0001t0015g0341others(2): Show | 5 | 390 | 0.0128 | 3958 | c.859 others(3975): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CTGTATAC others(3951): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 342 | 0.0029 | 3958 | c.366 others(3975): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(3951): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 370 | 0.0027 | 3958 | c.891 others(3973): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACAACACA others(3951): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0004 | 1 | 40 | 0.0250 | 3958 | c.*14 others(3969): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3951): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0105 | 1 | 366 | 0.0027 | 3958 | c.641 others(3973): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3951): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0019 | a0001c0019t0004 | a0001c0019t0004g0045 | 1 | 366 | 0.0027 | 3958 | c.641 others(3973): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3951): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0030 | 1 | 366 | 0.0027 | 3958 | c.641 others(3973): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3951): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0034 | 1 | 366 | 0.0027 | 3958 | c.641 others(3973): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913439 | C | CTGTATGT others(3951): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 | 1 | 420 | 0.0024 | 3958 | c.*27 others(3969): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 1754 | chr9 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3952): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0214 | 1 | 390 | 0.0026 | 3959 | c.859 others(3976): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3952): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02895.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0026a0001c0001t0005g0333a0001c0001t0005g0334others(1): Show | 5 | 390 | 0.0128 | 3959 | c.859 others(3976): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3952): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338a0001c0001t0001g0339 | 2 | 390 | 0.0051 | 3959 | c.859 others(3976): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3952): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 2 | 390 | 0.0051 | 3959 | c.859 others(3976): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176945 | A | ATACATAT others(3952): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 342 | 0.0029 | 3959 | c.366 others(3976): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3952): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0000 | a0000c0096 | a0000c0096t0002 | a0000c0096t0002g0089 | 1 | 186 | 0.0054 | 3959 | c.723 others(3976): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3952): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03654.hp1 |
a0001 | a0001c0019 | a0001c0019t0004 | a0001c0019t0004g0046a0001c0019t0004g0185 | 2 | 366 | 0.0055 | 3959 | c.641 others(3974): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1065104 | C | CGTGAACT others(3953): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0267 | 1 | 337 | 0.0030 | 3960 | c.118 others(3979): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3953): Show |
intron_variant | MODIFIER | NA18961.hp2 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0337a0001c0001t0005g0344 | 2 | 390 | 0.0051 | 3960 | c.859 others(3977): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar |