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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IFFO2_chr1_18899280_18961676 | 18925852 | A | ATGGATTG others(776): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0009 | 1 | 376 | 0.0027 | 783 | c.666 others(800): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925853 | T | TGGATTGG others(776): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0002 | a0002c0003 | a0002c0003t0051 | a0002c0003t0051g0222 | 1 | 376 | 0.0027 | 783 | c.666 others(800): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925857 | T | TTGGATGG others(776): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 376 | 0.0027 | 783 | c.666 others(800): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925857 | T | TTGGATGG others(776): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 376 | 0.0027 | 783 | c.666 others(800): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925857 | T | TTGGATGG others(776): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0004 | a0004c0008 | a0004c0008t0004 | a0004c0008t0004g0118 | 1 | 376 | 0.0027 | 783 | c.666 others(800): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
KCTD8_chr4_44168903_44453809 | 44179714 | T | TAGGGATC others(776): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18985.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0176 | 2 | 294 | 0.0068 | 783 | c.962 others(800): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997385 | G | GGCGGGGG others(776): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0153 | 1 | 375 | 0.0027 | 783 | c.-20 others(794): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 285 | chr6 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(776): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0092 | 1 | 370 | 0.0027 | 783 | c.-27 others(794): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(776): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 186 | 0.0054 | 783 | c.956 others(800): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104824176 | A | ATATATAT others(776): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 86 | 0.0116 | 783 | c.683 others(802): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(776): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0137a0001c0001t0001g0139a0001c0001t0015g0195 | 3 | 260 | 0.0115 | 783 | c.125 others(800): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LUC7L_chr16_183990_234449 | 186153 | G | GGAGGAAC others(776): Show |
downstream_gene_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 350 | 0.0029 | 783 | c.*30 others(794): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2836 | chr16 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17876829 | T | TGGAGGTT others(776): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0048 | a0002c0048t0002 | a0002c0048t0002g0077 | 1 | 274 | 0.0037 | 783 | c.224 others(802): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877369 | G | GGGAGGTT others(776): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0072 | 1 | 274 | 0.0037 | 783 | c.224 others(802): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(776): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0249 | 1 | 256 | 0.0039 | 783 | c.241 others(802): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(776): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0144 | 1 | 256 | 0.0039 | 783 | c.241 others(802): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MUC4_chr3_195741771_195816929 | 195760478 | G | GCTAGGAT others(776): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 NA18950.hp1 others(2): Show |
a0004a0008a0131others(1): Show | a0004c0017a0008c0115a0131c0076others(1): Show | a0004c0017t0001a0008c0115t0001a0131c0076t0001others(1): Show | a0004c0017t0001g0104a0004c0017t0001g0105a0008c0115t0001g0106others(2): Show | 5 | 249 | 0.0201 | 783 | c.148 others(802): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40203781 | A | ATATAGTA others(776): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0008 | 1 | 170 | 0.0059 | 783 | c.166 others(802): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 40203781 | A | ATATAGTA others(776): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00735.hp2 others(26): Show |
a0001a0003 | a0001c0002a0001c0006a0003c0003 | a0001c0002t0002a0001c0002t0016a0001c0006t0002others(1): Show | a0001c0002t0002g0015a0001c0002t0002g0016a0001c0002t0002g0030others(26): Show | 29 | 170 | 0.1706 | 783 | c.166 others(802): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NCR1_chr19_54901148_54918073 | 54916702 | A | ATTTTTTT others(776): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0007 | 1 | 457 | 0.0022 | 783 | c.*38 others(794): Show |
NCR1 | ENSG00000189430.13 | transcript | ENST00000291890.9 | protein_coding | 3630 | chr19 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45910104 | C | CCACCCAC others(776): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 292 | 0.0034 | 783 | c.471 others(798): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PIAS4_chr19_4002736_4044386 | 4012030 | G | GGGTGTGG others(776): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0229 | 1 | 334 | 0.0030 | 783 | c.28- others(796): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PKP3_chr11_389209_409908 | 398642 | C | CTACCCCC others(776): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 216 | 0.0046 | 783 | c.106 others(800): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980106 | A | ACCTCCCT others(776): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 250 | 0.0040 | 783 | c.328 others(802): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(776): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076 | 1 | 250 | 0.0040 | 783 | c.328 others(802): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(776): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 250 | 0.0040 | 783 | c.309 others(802): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PRPF31_chr19_54110754_54136713 | 54133762 | C | CCTCTCTC others(776): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 227 | 0.0044 | 783 | c.*23 others(794): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2050 | chr19 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133829 | C | CTTCCTCC others(776): Show |
downstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 227 | 0.0044 | 783 | c.*23 others(794): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2117 | chr19 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130392374 | A | ACGTGTGT others(776): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 180 | 0.0056 | 783 | c.*49 others(794): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3758 | chr12 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7679092 | T | TATAAATA others(776): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 308 | 0.0033 | 783 | c.-75 others(802): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(776): Show |
intron_variant | MODIFIER | NA18957.hp1 NA18965.hp2 NA18988.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0021others(1): Show | 4 | 308 | 0.0130 | 783 | c.-75 others(802): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(776): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0151 | 1 | 370 | 0.0027 | 783 | c.284 others(802): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(776): Show |
intron_variant | MODIFIER | HG02258.hp2 NA18983.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0147a0001c0003t0002g0148 | 2 | 370 | 0.0054 | 783 | c.284 others(802): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(776): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0025 | 1 | 370 | 0.0027 | 783 | c.284 others(802): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(776): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 | 1 | 150 | 0.0067 | 783 | c.77- others(800): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(776): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 158 | 0.0063 | 783 | c.22+ others(800): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431787 | T | TAGGGTGG others(776): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0364 | 1 | 376 | 0.0027 | 783 | c.101 others(802): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431885 | A | ATAGGATG others(776): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0147 | 1 | 376 | 0.0027 | 783 | c.101 others(802): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431886 | C | CAGGGTGG others(776): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0251 | 1 | 376 | 0.0027 | 783 | c.101 others(802): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SHROOM2_chrX_9781429_9954443 | 9792159 | T | TAGAATAG others(776): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0013 | a0013c0026 | a0013c0026t0001 | a0013c0026t0001g0001 | 1 | 256 | 0.0039 | 783 | c.165 others(800): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SLAIN1_chr13_77692687_77769229 | 77703977 | A | ATATATAC others(776): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 300 | 0.0033 | 783 | c.626 others(800): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SLC12A7_chr5_1045384_1117063 | 1098318 | A | ACCAAGCC others(776): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02622.hp1 NA18906.hp2 |
a0001 | a0001c0007a0001c0014 | a0001c0007t0012a0001c0014t0003 | a0001c0007t0012g0001a0001c0014t0003g0058a0001c0014t0003g0059 | 3 | 118 | 0.0254 | 783 | c.125 others(800): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1098515 | C | CCCCCTCT others(776): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0004 | a0004c0027 | a0004c0027t0004 | a0004c0027t0004g0029 | 1 | 118 | 0.0085 | 783 | c.125 others(800): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1098778 | T | TCACCCAG others(776): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0057 | 1 | 118 | 0.0085 | 783 | c.125 others(800): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197196 | T | TCTATCCA others(776): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0044 | 1 | 420 | 0.0024 | 783 | c.107 others(800): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(776): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0019 | a0002c0019t0001 | a0002c0019t0001g0009 | 1 | 132 | 0.0076 | 783 | c.227 others(802): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
SNX6_chr14_34556093_34635148 | 34557494 | G | GTCTTCTT others(776): Show |
downstream_gene_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0275 | 1 | 322 | 0.0031 | 783 | c.*56 others(794): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 3598 | chr14 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827466 | C | CATATATT others(776): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 302 | 0.0033 | 783 | c.12+ others(798): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 642007 | G | GGGGGGAG others(776): Show |
downstream_gene_variant | MODIFIER | NA18952.hp1 NA18985.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0007 | 2 | 422 | 0.0047 | 783 | c.*67 others(794): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4607 | chr20 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GATGGTGG others(776): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0114 | a0001c0001t0114g0024 | 1 | 384 | 0.0026 | 783 | c.272 others(802): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar |