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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAD1L1_chr7_1810795_2237945 | 2183653 | C | CAAAAAAC others(3931): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0072 | 1 | 262 | 0.0038 | 3938 | c.986 others(3957): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 10/18 | chr7 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3931): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0031 | a0002c0031t0020 | a0002c0031t0020g0124 | 1 | 34 | 0.0294 | 3938 | c.299 others(3953): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
SLC16A9_chr10_59645764_59714850 | 59658255 | T | TACAACTT others(3931): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 349 | 0.0029 | 3938 | c.437 others(3955): Show |
SLC16A9 | ENSG00000165449.12 | transcript | ENST00000395348.8 | protein_coding | 4/5 | chr10 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3932): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0051 | a0051c0094 | a0051c0094t0001 | a0051c0094t0001g0097 | 1 | 8 | 0.1250 | 3939 | c.723 others(3956): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
RGS6_chr14_71927429_72571530 | 72497053 | T | TCCGGGAA others(3932): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 130 | 0.0077 | 3939 | c.965 others(3956): Show |
RGS6 | ENSG00000182732.18 | transcript | ENST00000553525.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364375 | A | ACGCTTAC others(3933): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 259 | 0.0039 | 3940 | c.129 others(3959): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3933): Show |
upstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 8 | 0.1250 | 3940 | c.-45 others(3949): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3933): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0113 | 1 | 20 | 0.0500 | 3940 | c.206 others(3959): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(3935): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0017 | 1 | 2 | 0.5000 | 3942 | c.126 others(3959): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807607 | T | TCCCTCCC others(3935): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 303 | 0.0033 | 3942 | c.*34 others(3953): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3321 | chr2 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3935): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0146 | 1 | 8 | 0.1250 | 3942 | c.723 others(3959): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807607 | T | TCCCTCCC others(3935): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0055 | 1 | 307 | 0.0033 | 3942 | c.-16 others(3953): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1585 | chr2 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(3936): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0161 | 1 | 23 | 0.0435 | 3943 | c.137 others(3960): 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(3936): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0162 | 1 | 23 | 0.0435 | 3943 | c.137 others(3960): 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(3936): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0149 | 1 | 23 | 0.0435 | 3943 | c.137 others(3960): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3936): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0018 | a0002c0018t0001 | a0002c0018t0001g0252 | 1 | 34 | 0.0294 | 3943 | c.299 others(3958): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120383 | A | GATGGAAA others(3937): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02886.hp2 HG03516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0025 | a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0238 others(2): Show |
5 | 182 | 0.0275 | 3944 | c.353 others(3959): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | chr22 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3939): Show |
intron_variant | MODIFIER | NA18988.hp2 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0037 | a0001c0001t0001g0023 a0001c0001t0037g0023 |
2 | 154 | 0.0130 | 3946 | c.859 others(3963): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3939): Show |
intron_variant | MODIFIER | HG03516.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0203 a0001c0001t0004g0204 |
2 | 154 | 0.0130 | 3946 | c.859 others(3963): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3939): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016a0001c0001t0020others(1): Show | a0001c0001t0004g0001 a0001c0001t0004g0019 a0001c0001t0004g0020 others(33): Show |
41 | 193 | 0.2124 | 3946 | c.859 others(3963): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586205 | G | GCCGGGGG others(3939): Show |
splice_region_variant others(1): Show |
LOW | HG02523.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0290 | 1 | 293 | 0.0034 | 3946 | c.157 others(3959): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GMEB2_chr20_63582605_63632101 | 63609684 | A | ACCCACCT others(3939): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 285 | 0.0035 | 3946 | c.132 others(3963): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3939): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0090 | a0090c0104 | a0090c0104t0001 | a0090c0104t0001g0126 | 1 | 8 | 0.1250 | 3946 | c.723 others(3963): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3939): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0137 | 1 | 8 | 0.1250 | 3946 | c.723 others(3963): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3939): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 8 | 0.1250 | 3946 | c.-45 others(3955): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3939): Show |
upstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 3946 | c.-45 others(3955): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3940): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0143 | 1 | 153 | 0.0065 | 3947 | c.859 others(3964): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3940): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0145 | 1 | 153 | 0.0065 | 3947 | c.859 others(3964): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3940): Show |
intron_variant | MODIFIER | HG02145.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 a0001c0001t0004g0201 |
2 | 154 | 0.0130 | 3947 | c.859 others(3964): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3940): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02027.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0036 | a0001c0001t0004g0050 a0001c0001t0004g0052 a0001c0001t0036g0041 |
3 | 155 | 0.0194 | 3947 | c.859 others(3964): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(3940): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 2 | 0.5000 | 3947 | c.125 others(3964): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3941): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0213 | 1 | 153 | 0.0065 | 3948 | c.859 others(3965): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111767 | A | ACACCTCC others(3941): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0339 | 1 | 172 | 0.0058 | 3948 | c.401 others(3965): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7835801 | C | CAAGGTTA others(3941): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0302 | 1 | 302 | 0.0033 | 3948 | c.726 others(3965): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3942): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02080.hp2 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 a0001c0001t0001g0271 a0001c0001t0001g0273 |
3 | 155 | 0.0194 | 3949 | c.859 others(3966): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716192 | G | GGTGTCAT others(3942): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0061 | 1 | 168 | 0.0060 | 3949 | c.86- others(3962): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3942): Show |
intron_variant | MODIFIER | HG03704.hp1 HG04184.hp2 NA18952.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0005 | a0002c0002t0003g0106 a0002c0002t0003g0107 a0002c0002t0003g0108 others(4): Show |
7 | 124 | 0.0565 | 3949 | c.641 others(3964): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3942): Show |
upstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 8 | 0.1250 | 3949 | c.-45 others(3958): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(3942): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 2 | 0.5000 | 3949 | c.125 others(3966): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
TRPM2_chr21_44348621_44447644 | 44407131 | A | ATTCCTCC others(3942): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0001 | 1 | 4 | 0.2500 | 3949 | c.296 others(3966): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3943): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18948.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 a0001c0001t0001g0318 |
2 | 154 | 0.0130 | 3950 | c.859 others(3967): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3943): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01169.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0031 | a0001c0001t0001g0007 a0001c0001t0001g0228 a0001c0001t0001g0231 others(23): Show |
27 | 179 | 0.1508 | 3950 | c.859 others(3967): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3943): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 153 | 0.0065 | 3950 | c.859 others(3967): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3943): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 153 | 0.0065 | 3950 | c.859 others(3967): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3943): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0008 a0001c0001t0009g0062 a0001c0001t0009g0063 others(5): Show |
9 | 161 | 0.0559 | 3950 | c.859 others(3967): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113948973 | C | CTACTGTC others(3943): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0125 | 1 | 153 | 0.0065 | 3950 | c.859 others(3967): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | chr2 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46366247 | G | GGGGCAGG others(3943): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0037 | a0037c0040 | a0037c0040t0010 | a0037c0040t0010g0068 | 1 | 83 | 0.0120 | 3950 | c.830 others(3967): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3943): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0159 | 1 | 118 | 0.0085 | 3950 | c.641 others(3965): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3943): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0115 | 1 | 118 | 0.0085 | 3950 | c.641 others(3965): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
LCT_chr2_135782850_135842184 | 135833532 | C | CGCCTCCT others(3943): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0164 | 1 | 118 | 0.0085 | 3950 | c.641 others(3965): Show |
LCT | ENSG00000115850.10 | transcript | ENST00000264162.7 | protein_coding | 1/16 | chr2 | TogoVar |