| geneid | 10880 |
|---|---|
| ensemblid | ENSG00000148156.8 |
| hgncid | 162 |
| symbol | ACTL7B |
| name | actin like 7B |
| refseq_nuc | NM_006686.4 |
| refseq_prot | NP_006677.1 |
| ensembl_nuc | ENST00000374667.5 |
| ensembl_prot | ENSP00000363799.3 |
| mane_status | MANE Select |
| chr | chr9 |
| start | 108854588 |
| end | 108855986 |
| strand | - |
| ver | v1.2 |
| region | chr9:108854588-108855986 |
| region5000 | chr9:108849588-108860986 |
| regionname0 | ACTL7B_chr9_108854588_108855986 |
| regionname5000 | ACTL7B_chr9_108849588_108860986 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTL7B | 1/1 | a0001 | 415 | 438 | 84 | 77 | 217 | 15 | 43 | subcellular location copy fasta | chr9 | 108849588 | 108860986 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTL7B | 1/0 | c0001 | 1248 | 275 | 49 | 59 | 131 | 9 | 26 | copy fasta | chr9 | 108849588 | 108860986 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTL7B | 1/1 | t0001 | 152 | 469 | 100 | 86 | 217 | 18 | 46 | copy fasta | chr9 | 108849588 | 108860986 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTL7B | 1/1 | g0000 | 470 | 100 | 86 | 218 | 18 | 46 | chr9 | 108849588 | 108860986 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTL7B | 1/0 | a0001c0001 | 275 | 49 | 59 | 131 | 9 | 26 | 1248 | copy fasta | chr9 | 108849588 | 108860986 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTL7B | 1/0 | a0001c0001t0001 | 274 | 49 | 59 | 130 | 9 | 26 | 1399 | copy fasta | chr9 | 108849588 | 108860986 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACTL7B | 1/0 | a0001c0001t0001g0000 | 274 | 49 | 59 | 130 | 9 | 26 | chr9 | 108849588 | 108860986 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr9:108858025
|
c.-2095G>A | Bone mineral density mean | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 |
A longitudinal genome-wide association study of bo others(58): Show |
5,862 South Asian ancestry individuals/ | ACTL7B - ACTL7A | rs148677168-? | - | MODIFIER | chr9 | C | T |
| pos | genenamehgvs_chgvs_pannotation | tissueexpression gene-log10(pval)slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database)The -log10(nominal pvalue) in GTEx databaseSlope in GTEx database (positive value:alt allele has higher gene expression) |
ahapidchapidthapidghapid ahapid_countchapid_countthapid_countghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
af allele frequency in GTEx database |
ms The number of samples with minor allele in GTEx database |
ma The number of minor allele count in GTEx database |
ver GTEx version |
vid Variant ID in GTEx database |
strand strand
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Adipose_Subcutaneous 8.237 0.218 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.096 | 128 | 136 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108858025:splice 108858025:variant goto | ACTL7Bupstream_gene_variantc.-2095G>Aothers(2): Show | CTNNAL1 Adipose_Subcutaneous 4.590 -0.476 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 | 0.027 | 38 | 38 | 10 | chr9_108858025_C_T_b38 | - | MODIFIER | chr9 | C | T | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | CTNNAL1 Adipose_Subcutaneous 17.195 -0.518 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.096 | 128 | 136 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Adipose_Visceral_Omentum 5.912 0.212 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.098 | 110 | 115 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | CTNNAL1 Adipose_Visceral_Omentum 10.241 -0.343 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.098 | 110 | 115 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Artery_Aorta 7.823 0.257 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.102 | 89 | 96 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Artery_Coronary 4.975 0.234 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.119 | 59 | 64 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Artery_Tibial 10.003 0.198 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.096 | 125 | 132 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108858025:splice 108858025:variant goto | ACTL7Bupstream_gene_variantc.-2095G>Aothers(2): Show | CTNNAL1 Artery_Tibial 5.712 -0.483 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 | 0.024 | 32 | 33 | 10 | chr9_108858025_C_T_b38 | - | MODIFIER | chr9 | C | T | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | CTNNAL1 Artery_Tibial 16.274 -0.449 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.096 | 125 | 132 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | CTNNAL1 Brain_Caudate_basal_ganglia 4.071 -0.282 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.101 | 59 | 60 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Brain_Cerebellar_Hemisphere 4.479 0.199 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.101 | 55 | 56 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | CTNNAL1 Brain_Cerebellar_Hemisphere 4.553 -0.320 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.101 | 55 | 56 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Brain_Cerebellum 4.602 0.248 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.098 | 51 | 52 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | CTNNAL1 Brain_Substantia_nigra 4.907 -0.479 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.109 | 38 | 40 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Breast_Mammary_Tissue 7.313 0.224 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.106 | 100 | 108 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | CTNNAL1 Breast_Mammary_Tissue 8.334 -0.302 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.106 | 100 | 108 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Cells_Cultured_fibroblasts 5.650 0.154 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.096 | 118 | 125 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | CTNNAL1 Cells_Cultured_fibroblasts 6.201 -0.128 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.096 | 118 | 125 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Colon_Sigmoid 6.831 0.285 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.096 | 76 | 80 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | CTNNAL1 Colon_Sigmoid 4.522 -0.231 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.096 | 76 | 80 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Colon_Transverse 4.191 0.171 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.110 | 97 | 105 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | CTNNAL1 Colon_Transverse 4.589 -0.133 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.110 | 97 | 105 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Esophagus_Gastroesophageal_Junction 7.265 0.292 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.100 | 76 | 81 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Esophagus_Mucosa 4.791 0.165 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.103 | 118 | 126 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Esophagus_Muscularis 8.108 0.242 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.108 | 114 | 121 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | FRRS1L Esophagus_Muscularis 4.009 -0.208 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.108 | 114 | 121 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Heart_Atrial_Appendage 4.500 0.229 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.103 | 90 | 95 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Lung 10.088 0.265 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.106 | 119 | 127 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | CTNNAL1 Lung 7.327 -0.205 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.106 | 119 | 127 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | CTNNAL1 Muscle_Skeletal 13.533 -0.420 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.102 | 156 | 166 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | EPB41L4B Muscle_Skeletal 5.709 0.202 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.102 | 156 | 166 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108858025:splice 108858025:variant goto | ACTL7Bupstream_gene_variantc.-2095G>Aothers(2): Show | ELP1 Nerve_Tibial 3.690 0.187 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 | 0.025 | 34 | 34 | 10 | chr9_108858025_C_T_b38 | - | MODIFIER | chr9 | C | T | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Nerve_Tibial 11.747 0.191 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.092 | 118 | 123 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108858025:splice 108858025:variant goto | ACTL7Bupstream_gene_variantc.-2095G>Aothers(2): Show | CTNNAL1 Nerve_Tibial 4.977 -0.261 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 | 0.025 | 34 | 34 | 10 | chr9_108858025_C_T_b38 | - | MODIFIER | chr9 | C | T | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | CTNNAL1 Nerve_Tibial 14.018 -0.246 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.092 | 118 | 123 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108856432:splice 108856432:variant goto | ACTL7Bupstream_gene_variantc.-502T>Aothers(1): Show | EPB41L4B Nerve_Tibial 4.650 0.265 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00733.hp1 HG03704.hp1 HG03831.hp2 |
0.032 | 43 | 43 | 10 | chr9_108856432_A_T_b38 | - | MODIFIER | chr9 | A | T | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Pancreas 4.013 0.213 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.112 | 76 | 81 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | CTNNAL1 Pancreas 11.481 -0.513 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.112 | 76 | 81 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Prostate 5.624 0.308 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.107 | 57 | 60 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Skin_Not_Sun_Exposed_Suprapubic 4.794 0.169 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.097 | 120 | 126 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108858025:splice 108858025:variant goto | ACTL7Bupstream_gene_variantc.-2095G>Aothers(2): Show | CTNNAL1 Skin_Not_Sun_Exposed_Suprapubic 4.648 -0.343 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 | 0.029 | 36 | 37 | 10 | chr9_108858025_C_T_b38 | - | MODIFIER | chr9 | C | T | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | CTNNAL1 Skin_Not_Sun_Exposed_Suprapubic 10.462 -0.306 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.097 | 120 | 126 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108858025:splice 108858025:variant goto | ACTL7Bupstream_gene_variantc.-2095G>Aothers(2): Show | CTNNAL1 Skin_Sun_Exposed_Lower_leg 3.809 -0.301 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 | 0.027 | 40 | 41 | 10 | chr9_108858025_C_T_b38 | - | MODIFIER | chr9 | C | T | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | CTNNAL1 Skin_Sun_Exposed_Lower_leg 13.882 -0.337 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.100 | 143 | 150 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Spleen 5.058 0.255 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.119 | 59 | 66 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | CTNNAL1 Spleen 7.962 -0.389 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.119 | 59 | 66 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | CTNNAL1 Stomach 5.463 -0.186 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.108 | 82 | 88 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Thyroid 4.767 0.198 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.105 | 135 | 143 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | CTNNAL1 Thyroid 3.907 -0.120 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.105 | 135 | 143 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108860695:splice 108860695:variant goto | ACTL7Bupstream_gene_variantc.-4765C>Tothers(2): Show | ELP1 Whole_Blood 4.018 0.111 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG01106.hp2 HG01358.hp1 others(4): Show |
0.101 | 151 | 161 | 10 | chr9_108860695_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108850076:splice 108850076:variant goto | ACTL7Bdownstream_gene_variantc.*4607G>A< others(4): Show |
ELP1 Cells_EBV-transformed_lymphocytes 5.422 0.315 | 7141515 | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(10): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(10): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(401): Show |
0.882 | 72 | 77 | 10 | chr9_108850076_C_T_b38 | - | MODIFIER | chr9 | C | T | TogoVar |
| 108850710:splice 108850710:variant goto | ACTL7Bdownstream_gene_variantc.*3973A>G< others(4): Show |
ELP1 Cells_EBV-transformed_lymphocytes 5.422 0.315 | 7141515 | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(10): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(10): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(401): Show |
0.882 | 72 | 77 | 10 | chr9_108850710_T_C_b38 | - | MODIFIER | chr9 | T | C | TogoVar |
| 108850076:splice 108850076:variant goto | ACTL7Bdownstream_gene_variantc.*4607G>A< others(4): Show |
ELP1 Muscle_Skeletal 12.094 0.270 | 7141515 | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(10): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(10): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(401): Show |
0.869 | 195 | 213 | 10 | chr9_108850076_C_T_b38 | - | MODIFIER | chr9 | C | T | TogoVar |
| 108850710:splice 108850710:variant goto | ACTL7Bdownstream_gene_variantc.*3973A>G< others(4): Show |
ELP1 Muscle_Skeletal 12.094 0.270 | 7141515 | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(10): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(10): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(401): Show |
0.869 | 195 | 213 | 10 | chr9_108850710_T_C_b38 | - | MODIFIER | chr9 | T | C | TogoVar |
| 108850076:splice 108850076:variant goto | ACTL7Bdownstream_gene_variantc.*4607G>A< others(4): Show |
CTNNAL1 Nerve_Tibial 4.165 -0.107 | 7141515 | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(10): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(10): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(401): Show |
0.862 | 169 | 184 | 10 | chr9_108850076_C_T_b38 | - | MODIFIER | chr9 | C | T | TogoVar |
| 108850710:splice 108850710:variant goto | ACTL7Bdownstream_gene_variantc.*3973A>G< others(4): Show |
CTNNAL1 Nerve_Tibial 4.165 -0.107 | 7141515 | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(10): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(10): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(401): Show |
0.862 | 169 | 184 | 10 | chr9_108850710_T_C_b38 | - | MODIFIER | chr9 | T | C | TogoVar |
| 108850076:splice 108850076:variant goto | ACTL7Bdownstream_gene_variantc.*4607G>A< others(4): Show |
ACTL7A Testis 17.438 -0.149 | 7141515 | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(10): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(10): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(401): Show |
0.850 | 113 | 124 | 10 | chr9_108850076_C_T_b38 | - | MODIFIER | chr9 | C | T | TogoVar |
| 108850710:splice 108850710:variant goto | ACTL7Bdownstream_gene_variantc.*3973A>G< others(4): Show |
ACTL7A Testis 17.438 -0.149 | 7141515 | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(10): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(10): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(401): Show |
0.850 | 113 | 124 | 10 | chr9_108850710_T_C_b38 | - | MODIFIER | chr9 | T | C | TogoVar |
| 108850076:splice 108850076:variant goto | ACTL7Bdownstream_gene_variantc.*4607G>A< others(4): Show |
ELP1 Testis 4.415 0.108 | 7141515 | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(10): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(10): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(401): Show |
0.850 | 113 | 124 | 10 | chr9_108850076_C_T_b38 | - | MODIFIER | chr9 | C | T | TogoVar |
| 108850710:splice 108850710:variant goto | ACTL7Bdownstream_gene_variantc.*3973A>G< others(4): Show |
ELP1 Testis 4.415 0.108 | 7141515 | a0001a0002a0003a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(10): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(10): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(401): Show |
0.850 | 113 | 124 | 10 | chr9_108850710_T_C_b38 | - | MODIFIER | chr9 | T | C | TogoVar |
| 108859622:splice 108859622:variant goto | ACTL7Bupstream_gene_variantc.-3692C>Gothers(2): Show | ELP1 Skin_Not_Sun_Exposed_Suprapubic 4.787 -0.134 | 1566 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0014 | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(1): Show | HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00639.hp2 HG00733.hp2 others(83): Show |
0.166 | 198 | 215 | 10 | chr9_108859622_G_C_b38 | - | MODIFIER | chr9 | G | C | TogoVar |
| 108860084:splice 108860084:variant goto | ACTL7Bupstream_gene_variantc.-4154C>Tothers(2): Show | TMEM245 Brain_Putamen_basal_ganglia 4.589 -0.168 | 2677 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(2): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(98): Show |
0.300 | 131 | 152 | 10 | chr9_108860084_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108859565:splice 108859565:variant goto | ACTL7Bupstream_gene_variantc.-3635G>Aothers(2): Show | TMEM245 Brain_Putamen_basal_ganglia 5.342 -0.184 | 2788 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0014others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(3): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(106): Show |
0.281 | 123 | 142 | 10 | chr9_108859565_C_T_b38 | - | MODIFIER | chr9 | C | T | TogoVar |
| 108859566:splice 108859566:variant goto | ACTL7Bupstream_gene_variantc.-3636G>Aothers(2): Show | TMEM245 Brain_Putamen_basal_ganglia 5.342 -0.184 | 2788 | a0001a0002 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0014others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(3): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(106): Show |
0.281 | 123 | 142 | 10 | chr9_108859566_C_T_b38 | - | MODIFIER | chr9 | C | T | TogoVar |
| 108858372:splice 108858372:variant goto | ACTL7Bupstream_gene_variantc.-2442A>Gothers(2): Show | TMEM245 Brain_Putamen_basal_ganglia 4.346 -0.162 | 491010 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(5): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(119): Show |
0.318 | 137 | 161 | 10 | chr9_108858372_T_C_b38 | - | MODIFIER | chr9 | T | C | TogoVar |
| 108858489:splice 108858489:variant goto | ACTL7Bupstream_gene_variantc.-2559T>Aothers(2): Show | TMEM245 Brain_Putamen_basal_ganglia 4.346 -0.162 | 491010 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(5): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(119): Show |
0.318 | 137 | 161 | 10 | chr9_108858489_A_T_b38 | - | MODIFIER | chr9 | A | T | TogoVar |
| 108858906:splice 108858906:variant goto | ACTL7Bupstream_gene_variantc.-2976A>Gothers(2): Show | FRRS1L Breast_Mammary_Tissue 4.662 -0.204 | 491010 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(5): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(130): Show |
0.327 | 276 | 334 | 10 | chr9_108858906_T_C_b38 | - | MODIFIER | chr9 | T | C | TogoVar |
| 108858906:splice 108858906:variant goto | ACTL7Bupstream_gene_variantc.-2976A>Gothers(2): Show | FRRS1L Esophagus_Gastroesophageal_Junction 4.000 -0.122 | 491010 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(5): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(130): Show |
0.347 | 233 | 280 | 10 | chr9_108858906_T_C_b38 | - | MODIFIER | chr9 | T | C | TogoVar |
| 108858372:splice 108858372:variant goto | ACTL7Bupstream_gene_variantc.-2442A>Gothers(2): Show | ELP1 Skin_Not_Sun_Exposed_Suprapubic 3.732 -0.095 | 491010 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(5): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(119): Show |
0.314 | 343 | 407 | 10 | chr9_108858372_T_C_b38 | - | MODIFIER | chr9 | T | C | TogoVar |
| 108858489:splice 108858489:variant goto | ACTL7Bupstream_gene_variantc.-2559T>Aothers(2): Show | ELP1 Skin_Not_Sun_Exposed_Suprapubic 3.732 -0.095 | 491010 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(5): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(119): Show |
0.314 | 343 | 407 | 10 | chr9_108858489_A_T_b38 | - | MODIFIER | chr9 | A | T | TogoVar |
| 108858906:splice 108858906:variant goto | ACTL7Bupstream_gene_variantc.-2976A>Gothers(2): Show | ELP1 Skin_Not_Sun_Exposed_Suprapubic 4.292 -0.104 | 491010 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(5): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(5): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(130): Show |
0.331 | 361 | 430 | 10 | chr9_108858906_T_C_b38 | - | MODIFIER | chr9 | T | C | TogoVar |
| 108858677:splice 108858677:variant goto | ACTL7Bupstream_gene_variantc.-2747G>Aothers(2): Show | TMEM245 Brain_Putamen_basal_ganglia 4.097 -0.157 | 3899 | a0001a0002a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(4): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(112): Show |
0.314 | 136 | 159 | 10 | chr9_108858677_C_T_b38 | - | MODIFIER | chr9 | C | T | TogoVar |
| 108859159:splice 108859159:variant goto | ACTL7Bupstream_gene_variantc.-3229C>Tothers(2): Show | TMEM245 Brain_Putamen_basal_ganglia 4.168 -0.160 | 3899 | a0001a0002a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(4): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(109): Show |
0.308 | 134 | 156 | 10 | chr9_108859159_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108858677:splice 108858677:variant goto | ACTL7Bupstream_gene_variantc.-2747G>Aothers(2): Show | ELP1 Skin_Not_Sun_Exposed_Suprapubic 3.999 -0.098 | 3899 | a0001a0002a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(4): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(112): Show |
0.310 | 340 | 403 | 10 | chr9_108858677_C_T_b38 | - | MODIFIER | chr9 | C | T | TogoVar |
| 108858818:splice 108858818:variant goto | ACTL7Bupstream_gene_variantc.-2888T>Cothers(2): Show | ELP1 Skin_Not_Sun_Exposed_Suprapubic 3.999 -0.098 | 3899 | a0001a0002a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(4): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(112): Show |
0.310 | 340 | 403 | 10 | chr9_108858818_A_G_b38 | - | MODIFIER | chr9 | A | G | TogoVar |
| 108859527:splice 108859527:variant goto | ACTL7Bupstream_gene_variantc.-3597G>Tothers(2): Show | TMEM245 Brain_Putamen_basal_ganglia 5.616 -0.191 | 3788 | a0001a0002a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0014others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(3): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(98): Show |
0.279 | 123 | 141 | 10 | chr9_108859527_C_A_b38 | - | MODIFIER | chr9 | C | A | TogoVar |
| 108857739:splice 108857739:variant goto | ACTL7Bupstream_gene_variantc.-1809G>Cothers(2): Show | TMEM245 Brain_Putamen_basal_ganglia 4.373 -0.160 | 4899 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(4): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(119): Show |
0.324 | 138 | 164 | 10 | chr9_108857739_C_G_b38 | - | MODIFIER | chr9 | C | G | TogoVar |
| 108858103:splice 108858103:variant goto | ACTL7Bupstream_gene_variantc.-2173C>Tothers(2): Show | TMEM245 Brain_Putamen_basal_ganglia 4.215 -0.159 | 4899 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(4): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(110): Show |
0.314 | 136 | 159 | 10 | chr9_108858103_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108858176:splice 108858176:variant goto | ACTL7Bupstream_gene_variantc.-2246G>Cothers(2): Show | TMEM245 Brain_Putamen_basal_ganglia 4.333 -0.162 | 4899 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(4): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(110): Show |
0.310 | 135 | 157 | 10 | chr9_108858176_C_G_b38 | - | MODIFIER | chr9 | C | G | TogoVar |
| 108858448:splice 108858448:variant goto | ACTL7Bupstream_gene_variantc.-2518C>Tothers(2): Show | TMEM245 Brain_Putamen_basal_ganglia 4.169 -0.158 | 4899 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(4): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(136): Show |
0.324 | 139 | 164 | 10 | chr9_108858448_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108858448:splice 108858448:variant goto | ACTL7Bupstream_gene_variantc.-2518C>Tothers(2): Show | FRRS1L Breast_Mammary_Tissue 4.605 -0.203 | 4899 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(4): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(136): Show |
0.325 | 275 | 332 | 10 | chr9_108858448_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108857739:splice 108857739:variant goto | ACTL7Bupstream_gene_variantc.-1809G>Cothers(2): Show | FRRS1L Esophagus_Gastroesophageal_Junction 4.144 -0.124 | 4899 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(4): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(119): Show |
0.333 | 224 | 268 | 10 | chr9_108857739_C_G_b38 | - | MODIFIER | chr9 | C | G | TogoVar |
| 108858448:splice 108858448:variant goto | ACTL7Bupstream_gene_variantc.-2518C>Tothers(2): Show | FRRS1L Esophagus_Gastroesophageal_Junction 4.017 -0.123 | 4899 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(4): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(136): Show |
0.350 | 234 | 282 | 10 | chr9_108858448_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108858448:splice 108858448:variant goto | ACTL7Bupstream_gene_variantc.-2518C>Tothers(2): Show | ELP1 Skin_Not_Sun_Exposed_Suprapubic 3.886 -0.099 | 4899 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(4): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(136): Show |
0.334 | 363 | 433 | 10 | chr9_108858448_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108858103:splice 108858103:variant goto | ACTL7Bupstream_gene_variantc.-2173C>Tothers(2): Show | ACTL7B Testis 3.811 0.066 | 4899 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(4): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(110): Show |
0.299 | 209 | 247 | 10 | chr9_108858103_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108858176:splice 108858176:variant goto | ACTL7Bupstream_gene_variantc.-2246G>Cothers(2): Show | ACTL7B Testis 4.083 0.068 | 4899 | a0001a0002a0003a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000others(4): Show | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(110): Show |
0.297 | 209 | 245 | 10 | chr9_108858176_C_G_b38 | - | MODIFIER | chr9 | C | G | TogoVar |
| 108858302:splice 108858302:variant goto | ACTL7Bupstream_gene_variantc.-2372A>Gothers(2): Show | TMEM245 Brain_Putamen_basal_ganglia 4.393 -0.166 | 3455 | a0001a0002a0004 | a0001c0001a0001c0002a0002c0005a0004c0015 | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0002c0005t0001a0004c0015t0001 | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0002t0001g0000a0002c0005t0001g0000a0004c0015t0001g0000 | HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 others(93): Show |
0.298 | 131 | 151 | 10 | chr9_108858302_T_C_b38 | - | MODIFIER | chr9 | T | C | TogoVar |
| 108851073:splice 108851073:variant goto | ACTL7Bdownstream_gene_variantc.*3610C>T< others(4): Show |
TMEM245 Whole_Blood 4.453 -0.143 | 2233 | a0001a0004 | a0001c0001a0004c0015 | a0001c0001t0001a0001c0001t0002a0004c0015t0001 | a0001c0001t0001g0000a0001c0001t0002g0000a0004c0015t0001g0000 | HG01346.hp1 HG02148.hp2 HG02615.hp1 HG02630.hp1 HG02723.hp2 others(11): Show |
0.074 | 115 | 118 | 10 | chr9_108851073_G_A_b38 | - | MODIFIER | chr9 | G | A | TogoVar |
| 108856337:splice 108856337:variant goto | ACTL7Bupstream_gene_variantc.-407A>Tothers(1): Show | TMEM245 Whole_Blood 4.605 -0.149 | 2233 | a0001a0004 | a0001c0001a0004c0015 | a0001c0001t0001a0001c0001t0002a0004c0015t0001 | a0001c0001t0001g0000a0001c0001t0002g0000a0004c0015t0001g0000 | HG01346.hp1 HG02148.hp2 HG02615.hp1 HG02630.hp1 HG02723.hp2 others(11): Show |
0.072 | 113 | 115 | 10 | chr9_108856337_T_A_b38 | - | MODIFIER | chr9 | T | A | TogoVar |
| 108852486:splice 108852486:variant goto | ACTL7Bdownstream_gene_variantc.*2197T>C< others(4): Show |
ELP1 Cells_EBV-transformed_lymphocytes 4.572 0.223 | 5121212 | a0001a0002a0003a0006a0007 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001a0001c0004t0001a0001c0006t0001others(7): Show | a0001c0001t0001g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000a0001c0006t0001g0000others(7): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(377): Show |
0.775 | 132 | 147 | 10 | chr9_108852486_A_G_b38 | - | MODIFIER | chr9 | A | G | TogoVar |
| 108852486:splice 108852486:variant goto | ACTL7Bdownstream_gene_variantc.*2197T>C< others(4): Show |
ELP1 Muscle_Skeletal 6.355 0.158 | 5121212 | a0001a0002a0003a0006a0007 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001a0001c0004t0001a0001c0006t0001others(7): Show | a0001c0001t0001g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000a0001c0006t0001g0000others(7): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(377): Show |
0.784 | 317 | 353 | 10 | chr9_108852486_A_G_b38 | - | MODIFIER | chr9 | A | G | TogoVar |
| 108852486:splice 108852486:variant goto | ACTL7Bdownstream_gene_variantc.*2197T>C< others(4): Show |
CTNNAL1 Nerve_Tibial 4.995 -0.098 | 5121212 | a0001a0002a0003a0006a0007 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001a0001c0004t0001a0001c0006t0001others(7): Show | a0001c0001t0001g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000a0001c0006t0001g0000others(7): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(377): Show |
0.783 | 258 | 290 | 10 | chr9_108852486_A_G_b38 | - | MODIFIER | chr9 | A | G | TogoVar |
| 108852486:splice 108852486:variant goto | ACTL7Bdownstream_gene_variantc.*2197T>C< others(4): Show |
ELP1 Skin_Sun_Exposed_Lower_leg 3.655 0.101 | 5121212 | a0001a0002a0003a0006a0007 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001a0001c0004t0001a0001c0006t0001others(7): Show | a0001c0001t0001g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000a0001c0006t0001g0000others(7): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(377): Show |
0.787 | 289 | 320 | 10 | chr9_108852486_A_G_b38 | - | MODIFIER | chr9 | A | G | TogoVar |
| 108852486:splice 108852486:variant goto | ACTL7Bdownstream_gene_variantc.*2197T>C< others(4): Show |
ACTL7A Testis 21.536 -0.145 | 5121212 | a0001a0002a0003a0006a0007 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001a0001c0004t0001a0001c0006t0001others(7): Show | a0001c0001t0001g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000a0001c0006t0001g0000others(7): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(377): Show |
0.770 | 173 | 190 | 10 | chr9_108852486_A_G_b38 | - | MODIFIER | chr9 | A | G | TogoVar |
| 108860182:splice 108860182:variant goto | ACTL7Bupstream_gene_variantc.-4252T>Cothers(2): Show | CTNNAL1 Adipose_Subcutaneous 4.057 -0.142 | 6111111 | a0001a0003a0004a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001a0001c0004t0001a0001c0006t0001others(6): Show | a0001c0001t0001g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000a0001c0006t0001g0000others(6): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp1 others(283): Show |
0.540 | 503 | 654 | 10 | chr9_108860182_A_G_b38 | - | MODIFIER | chr9 | A | G | TogoVar |
| 108860182:splice 108860182:variant goto | ACTL7Bupstream_gene_variantc.-4252T>Cothers(2): Show | FRRS1L Breast_Mammary_Tissue 6.400 0.227 | 6111111 | a0001a0003a0004a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001a0001c0004t0001a0001c0006t0001others(6): Show | a0001c0001t0001g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000a0001c0006t0001g0000others(6): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp1 others(283): Show |
0.559 | 351 | 451 | 10 | chr9_108860182_A_G_b38 | - | MODIFIER | chr9 | A | G | TogoVar |
| 108860182:splice 108860182:variant goto | ACTL7Bupstream_gene_variantc.-4252T>Cothers(2): Show | ELP1 Lung 3.880 0.099 | 6111111 | a0001a0003a0004a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001a0001c0004t0001a0001c0006t0001others(6): Show | a0001c0001t0001g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000a0001c0006t0001g0000others(6): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp1 others(283): Show |
0.572 | 404 | 515 | 10 | chr9_108860182_A_G_b38 | - | MODIFIER | chr9 | A | G | TogoVar |
| 108860182:splice 108860182:variant goto | ACTL7Bupstream_gene_variantc.-4252T>Cothers(2): Show | CTNNAL1 Nerve_Tibial 4.090 -0.073 | 6111111 | a0001a0003a0004a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001a0001c0004t0001a0001c0006t0001others(6): Show | a0001c0001t0001g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000a0001c0006t0001g0000others(6): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp1 others(283): Show |
0.540 | 474 | 614 | 10 | chr9_108860182_A_G_b38 | - | MODIFIER | chr9 | A | G | TogoVar |
| 108860182:splice 108860182:variant goto | ACTL7Bupstream_gene_variantc.-4252T>Cothers(2): Show | ELP1 Skin_Not_Sun_Exposed_Suprapubic 4.148 0.094 | 6111111 | a0001a0003a0004a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001a0001c0004t0001a0001c0006t0001others(6): Show | a0001c0001t0001g0000a0001c0002t0001g0000a0001c0003t0001g0000a0001c0004t0001g0000a0001c0006t0001g0000others(6): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp1 others(283): Show |
0.553 | 453 | 580 | 10 | chr9_108860182_A_G_b38 | - | MODIFIER | chr9 | A | G | TogoVar |