| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(617): Show |
upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | 624 | c.-26 others(635): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | ||||||
| PLCB4_chr20_9064087_9485808 | 9188524 | T | TAGTGACA others(617): Show |
intron_variant | MODIFIER | HG02965.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0139a0001c0001t0004g0073 | 2 | 140 | 0.0143 | 624 | c.-78 others(643): Show |
PLCB4 | ENSG00000101333.19 | transcript | ENST00000378473.9 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PLCB4_chr20_9064087_9485808 | 9188524 | T | TAGTGACA others(617): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 140 | 0.0071 | 624 | c.-78 others(643): Show |
PLCB4 | ENSG00000101333.19 | transcript | ENST00000378473.9 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PLCB4_chr20_9064087_9485808 | 9188524 | T | TAGTGACA others(617): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02132.hp1 HG02145.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0031a0001c0001t0001g0075others(9): Show | 12 | 140 | 0.0857 | 624 | c.-78 others(643): Show |
PLCB4 | ENSG00000101333.19 | transcript | ENST00000378473.9 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(617): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0096 | 1 | 210 | 0.0048 | 624 | c.147 others(641): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PLPP4_chr10_120452227_120597065 | 120530690 | T | TAAAAGTG others(617): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0317 | 1 | 328 | 0.0031 | 624 | c.445 others(641): Show |
PLPP4 | ENSG00000203805.11 | transcript | ENST00000398250.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PRDM16_chr1_3064203_3443621 | 3163321 | C | CCGCAGAA others(617): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0127 | 1 | 210 | 0.0048 | 624 | c.38- others(641): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 504418 | C | CCTCACCT others(617): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0129 | 1 | 295 | 0.0034 | 624 | c.139 others(643): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RFX3_chr9_3213297_3531001 | 3504671 | C | CATATAAA others(617): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 | 1 | 196 | 0.0051 | 624 | c.-9+ others(641): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | ||||||
| RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(617): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0191 | 1 | 334 | 0.0030 | 624 | c.45- others(639): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| RSPH1_chr21_42467486_42501224 | 42477225 | C | CCCCTCCA others(617): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0068 | 1 | 408 | 0.0025 | 624 | c.727 others(637): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | ||||||
| RUNX1_chr21_34782801_35054302 | 34931569 | A | ATGTATAC others(617): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0110 | 1 | 170 | 0.0059 | 624 | c.59- others(641): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | ||||||
| RUNX1_chr21_34782801_35054302 | 34931569 | A | ATGTATAC others(617): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 170 | 0.0059 | 624 | c.59- others(641): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | ||||||
| S1PR4_chr19_3173769_3185332 | 3178129 | C | CTCGGGCT others(617): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 HG02165.hp2 NA18940.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0000a0002c0004t0001g0000 | 13 | 418 | 0.0311 | 624 | c.-66 others(633): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 639 | chr19 | TogoVar | ||||||
| S1PR4_chr19_3173769_3185332 | 3178129 | C | CTCGGGCT others(617): Show |
upstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | 624 | c.-66 others(633): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 639 | chr19 | TogoVar | ||||||
| S1PR4_chr19_3173769_3185332 | 3178129 | C | CTCGGGCT others(617): Show |
upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0000 | 1 | 418 | 0.0024 | 624 | c.-66 others(633): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 639 | chr19 | TogoVar | ||||||
| S1PR4_chr19_3173769_3185332 | 3178129 | C | CTTGGGCT others(617): Show |
upstream_gene_variant | MODIFIER | NA18949.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0000 | 1 | 418 | 0.0024 | 624 | c.-66 others(633): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 639 | chr19 | TogoVar | ||||||
| SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(617): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02056.hp1 NA19001.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0202a0002c0001t0001g0214a0002c0001t0001g0235 | 3 | 378 | 0.0079 | 624 | c.937 others(641): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(617): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0191a0002c0001t0001g0194 | 2 | 378 | 0.0053 | 624 | c.937 others(641): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(617): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0042 | 1 | 378 | 0.0027 | 624 | c.937 others(641): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(617): Show |
intron_variant | MODIFIER | HG02015.hp1 HG03704.hp1 NA18946.hp1 others(3): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0019a0002c0001t0001g0241a0002c0001t0001g0250others(2): Show | 6 | 378 | 0.0159 | 624 | c.937 others(641): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(617): Show |
intron_variant | MODIFIER | HG00423.hp1 HG04204.hp1 NA18963.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022a0001c0002t0001g0265a0001c0002t0001g0267others(3): Show | 7 | 378 | 0.0185 | 624 | c.937 others(641): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(617): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0193 | 1 | 378 | 0.0027 | 624 | c.937 others(641): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(617): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0233 | 1 | 378 | 0.0027 | 624 | c.937 others(641): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(617): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01978.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0057a0003c0003t0001g0084a0003c0003t0001g0089 | 3 | 378 | 0.0079 | 624 | c.937 others(641): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(617): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0077 | 1 | 378 | 0.0027 | 624 | c.937 others(641): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(617): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02886.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0029a0001c0005t0001g0329a0001c0005t0001g0330others(2): Show | 6 | 378 | 0.0159 | 624 | c.937 others(641): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SEPTIN9_chr17_77276499_77505593 | 77356681 | C | CCCCCTCC others(617): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0073 | 1 | 150 | 0.0067 | 624 | c.77- others(641): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SIGIRR_chr11_400716_419999 | 412049 | G | GGGAGGGG others(617): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 242 | 0.0041 | 624 | c.-15 others(643): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| SKI_chr1_2223319_2315213 | 2281252 | G | GGATGCCC others(617): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0186 | 1 | 330 | 0.0030 | 624 | c.970 others(643): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
| SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(617): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 350 | 0.0029 | 624 | c.624 others(639): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245977025 | A | AGCCTAGG others(617): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0108 | 1 | 150 | 0.0067 | 624 | c.532 others(643): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 965203 | C | CTTGGACC others(617): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0114 | 1 | 190 | 0.0053 | 624 | c.72+ others(641): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1221594 | C | CTGCCTCT others(617): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02559.hp1 others(2): Show |
a0002a0003a0010 | a0002c0005a0002c0033a0003c0008others(1): Show | a0002c0005t0001a0002c0033t0001a0003c0008t0001others(2): Show | a0002c0005t0001g0101a0002c0033t0001g0119a0003c0008t0001g0100others(2): Show | 5 | 190 | 0.0263 | 624 | c.719 others(643): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1223101 | G | GATCGCTG others(617): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02738.hp1 HG03471.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0002 | a0001c0001t0001g0035a0001c0001t0001g0038a0001c0001t0001g0173others(1): Show | 4 | 190 | 0.0211 | 624 | c.719 others(643): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SPAAR_chr9_35904490_35916686 | 35914229 | G | GGTGAGTG others(617): Show |
downstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | 624 | c.*35 others(635): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2544 | chr9 | TogoVar | ||||||
| SUFU_chr10_102498972_102638535 | 102637474 | A | ATTATATA others(617): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0183 | 1 | 268 | 0.0037 | 624 | c.*73 others(635): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3940 | chr10 | TogoVar | ||||||
| TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(617): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0245 | 1 | 256 | 0.0039 | 624 | c.924 others(641): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
| TLL2_chr10_96359608_96518926 | 96415729 | G | GTCTCTCT others(617): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0076 | 1 | 256 | 0.0039 | 624 | c.924 others(641): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
| TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(617): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 256 | 0.0039 | 624 | c.924 others(641): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
| TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(617): Show |
intron_variant | MODIFIER | HG03225.hp2 NA18906.hp1 |
a0001a0007 | a0001c0001a0007c0016 | a0001c0001t0010a0007c0016t0010 | a0001c0001t0010g0249a0007c0016t0010g0250 | 2 | 256 | 0.0078 | 624 | c.924 others(641): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
| TLL2_chr10_96359608_96518926 | 96415743 | C | CTCTCTCT others(617): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0240 | 1 | 256 | 0.0039 | 624 | c.924 others(641): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | ||||||
| TM4SF1_chr3_149364022_149382649 | 149380670 | G | GGCCAGCC others(617): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG02630.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0007g0062 | 10 | 434 | 0.0230 | 624 | c.-31 others(635): Show |
TM4SF1 | ENSG00000169908.12 | transcript | ENST00000305366.8 | protein_coding | 3022 | chr3 | TogoVar | ||||||
| TMEM132B_chr12_125181386_125667369 | 125612896 | A | ATATTTAT others(617): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0045 | a0001c0003t0045g0047 | 1 | 128 | 0.0078 | 624 | c.143 others(645): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TMEM255B_chr13_113754226_113821995 | 113817317 | T | TCCTCCCC others(617): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0218 | 1 | 260 | 0.0039 | 624 | c.*54 others(635): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 323 | chr13 | TogoVar | ||||||
| TMEM255B_chr13_113754226_113821995 | 113817352 | C | CGGGACAC others(617): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0015 | 1 | 260 | 0.0039 | 624 | c.*54 others(635): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 358 | chr13 | TogoVar | ||||||
| TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(617): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0036 | 1 | 174 | 0.0058 | 624 | c.41- others(641): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| TWIST2_chr2_238843085_238915534 | 238870297 | C | CAAACCAC others(617): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 338 | 0.0030 | 624 | c.*35 others(643): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
| UBE4A_chr11_118354600_118404211 | 118355934 | T | TATGTGTG others(617): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0040 | 1 | 320 | 0.0031 | 624 | c.-37 others(635): Show |
UBE4A | ENSG00000110344.10 | transcript | ENST00000252108.8 | protein_coding | 3665 | chr11 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827492 | G | GGGGCATC others(617): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0056 | 1 | 200 | 0.0050 | 624 | c.449 others(641): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar |