view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6361): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0037 | 1 | 188 | 0.0053 | 6368 | c.406 others(6385): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6361): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 188 | 0.0053 | 6368 | c.406 others(6385): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6362): Show |
intron_variant | MODIFIER | HG00558.hp1 NA19087.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0019 | a0001c0002t0001g0013 a0001c0002t0019g0035 |
2 | 188 | 0.0106 | 6369 | c.406 others(6386): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6362): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18951.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0014 |
2 | 188 | 0.0106 | 6369 | c.406 others(6386): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6362): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0047 | 1 | 188 | 0.0053 | 6369 | c.406 others(6386): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6362): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0181 | 1 | 188 | 0.0053 | 6369 | c.406 others(6386): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6362): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0052 | 1 | 188 | 0.0053 | 6369 | c.406 others(6386): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6362): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00597.hp2 others(17): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(10): Show | a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0002g0042 others(17): Show |
20 | 188 | 0.1064 | 6369 | c.406 others(6386): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6362): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0117 | 1 | 188 | 0.0053 | 6369 | c.406 others(6386): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6362): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0183 | 1 | 188 | 0.0053 | 6369 | c.406 others(6386): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6362): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0042 | a0001c0002t0042g0030 | 1 | 188 | 0.0053 | 6369 | c.406 others(6386): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6362): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0038 a0001c0002t0002g0060 a0001c0002t0002g0157 |
3 | 188 | 0.0160 | 6369 | c.406 others(6386): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586538 | C | CAAAGGTG others(6363): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0032 | 1 | 308 | 0.0033 | 6370 | c.157 others(6387): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6363): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0005 | 1 | 188 | 0.0053 | 6370 | c.406 others(6387): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6363): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0039 | a0001c0002t0039g0008 | 1 | 188 | 0.0053 | 6370 | c.406 others(6387): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6363): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0046 | a0001c0002t0046g0105 | 1 | 188 | 0.0053 | 6370 | c.406 others(6387): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6363): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0163 | 1 | 188 | 0.0053 | 6370 | c.406 others(6387): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6363): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0165 | 1 | 188 | 0.0053 | 6370 | c.406 others(6387): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6363): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0108 | 1 | 188 | 0.0053 | 6370 | c.406 others(6387): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6363): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0096 | 1 | 188 | 0.0053 | 6370 | c.406 others(6387): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6363): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0095 | 1 | 188 | 0.0053 | 6370 | c.406 others(6387): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6363): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02572.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0030a0001c0002t0048others(2): Show | a0001c0002t0002g0151 a0001c0002t0030g0097 a0001c0002t0048g0130 others(2): Show |
5 | 188 | 0.0266 | 6370 | c.406 others(6387): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6364): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 | 1 | 188 | 0.0053 | 6371 | c.406 others(6388): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6364): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0159 | 1 | 188 | 0.0053 | 6371 | c.406 others(6388): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863999 | C | CTTCCCAA others(6365): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0021 | a0001c0021t0006 | a0001c0021t0006g0294 | 1 | 318 | 0.0031 | 6372 | c.225 others(6389): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
EPPK1_chr8_143852324_143883467 | 143862500 | C | CGCAGGGC others(6365): Show |
conservative_inframe_insertion | MODERATE | HG02280.hp2 HG02630.hp2 |
a0040 | a0040c0156a0040c0157 | a0040c0156t0004a0040c0157t0004 | a0040c0156t0004g0241 a0040c0157t0004g0237 |
2 | 424 | 0.0047 | 6372 | c.107 others(6383): Show |
p.Leu others(6387): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 10828/16005 | 10753/15267 | 3585/5088 | chr8 | TogoVar | |||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(6366): Show |
upstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 251 | 0.0040 | 6373 | c.-45 others(6382): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644370 | T | CGTGACAC others(6368): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0265 a0001c0001t0003g0303 |
2 | 328 | 0.0061 | 6375 | c.225 others(6392): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(6368): Show |
intron_variant | MODIFIER | NA18979.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0235 a0001c0001t0003g0307 |
2 | 328 | 0.0061 | 6375 | c.225 others(6392): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(6368): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02135.hp2 HG02155.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0050a0001c0001t0058 | a0001c0001t0017g0287 a0001c0001t0050g0270 a0001c0001t0058g0271 |
3 | 328 | 0.0092 | 6375 | c.225 others(6392): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(6368): Show |
intron_variant | MODIFIER | NA18959.hp1 NA18980.hp2 NA19012.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0220 a0001c0001t0003g0230 a0001c0001t0003g0231 others(3): Show |
6 | 328 | 0.0183 | 6375 | c.225 others(6392): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(6368): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0221 a0001c0001t0003g0267 |
2 | 328 | 0.0061 | 6375 | c.225 others(6392): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(6368): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0269 | 1 | 328 | 0.0031 | 6375 | c.225 others(6392): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(6368): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0317 | 1 | 328 | 0.0031 | 6375 | c.225 others(6392): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(6368): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0264 | 1 | 328 | 0.0031 | 6375 | c.225 others(6392): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
GALNTL6_chr4_171808404_173046559 | 171865146 | C | CAAAAAAA others(6368): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 40 | 0.0250 | 6375 | c.138 others(6394): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863999 | C | CTTCCCAA others(6371): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0003 | a0003c0043 | a0003c0043t0005 | a0003c0043t0005g0094 | 1 | 318 | 0.0031 | 6378 | c.225 others(6395): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863999 | C | CTTCCCAA others(6371): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0021 | a0001c0021t0006 | a0001c0021t0006g0283 | 1 | 318 | 0.0031 | 6378 | c.225 others(6395): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863999 | C | CTTCCCAA others(6373): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0020 | a0001c0020t0026 | a0001c0020t0026g0209 | 1 | 318 | 0.0031 | 6380 | c.225 others(6397): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
EPPK1_chr8_143852324_143883467 | 143860812 | T | TGCTCACG others(6374): Show |
conservative_inframe_insertion | MODERATE | HG02809.hp2 HG02895.hp2 HG03041.hp1 |
a0044a0148 | a0044c0038a0148c0292 | a0044c0038t0001a0044c0038t0004a0148c0292t0004 | a0044c0038t0001g0055 a0044c0038t0004g0051 a0148c0292t0004g0049 |
3 | 424 | 0.0071 | 6381 | c.124 others(6392): Show |
p.Ser others(6396): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 12516/16005 | 12441/15267 | 4147/5088 | chr8 | TogoVar | |||
ZDHHC20_chr13_21367571_21464303 | 21377660 | A | ACGTGACC others(6376): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0186 | 1 | 302 | 0.0033 | 6383 | c.*40 others(6400): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948641 | T | TGTGTGAG others(6377): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 356 | 0.0028 | 6384 | c.114 others(6401): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
EPPK1_chr8_143852324_143883467 | 143864712 | C | CGGTGTAG others(6382): Show |
frameshift_variant others(1): Show |
HIGH | HG02896.hp1 | a0143 | a0143c0283 | a0143c0283t0022 | a0143c0283t0022g0027 | 1 | 424 | 0.0024 | 6389 | c.854 others(6398): Show |
p.Asp others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 8616/16005 | 8541/15267 | 2847/5088 | chr8 | TogoVar | |||
EPPK1_chr8_143852324_143883467 | 143863764 | C | CGGCGGCG others(6383): Show |
conservative_inframe_insertion | MODERATE | HG03130.hp1 | a0149 | a0149c0172 | a0149c0172t0001 | a0149c0172t0001g0221 | 1 | 424 | 0.0024 | 6390 | c.948 others(6399): Show |
p.Ala others(6405): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9564/16005 | 9489/15267 | 3163/5088 | chr8 | TogoVar | |||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(6385): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 251 | 0.0040 | 6392 | c.-45 others(6401): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
EPPK1_chr8_143852324_143883467 | 143866306 | C | CCCGGTGT others(6389): Show |
disruptive_inframe_insertion | MODERATE | HG03579.hp2 | a0050 | a0050c0166 | a0050c0166t0009 | a0050c0166t0009g0226 | 1 | 424 | 0.0024 | 6396 | c.694 others(6405): Show |
p.Gly others(6411): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7022/16005 | 6947/15267 | 2316/5088 | chr8 | TogoVar | |||
EPPK1_chr8_143852324_143883467 | 143866306 | C | CCCGGTGT others(6389): Show |
disruptive_inframe_insertion | MODERATE | HG02559.hp2 | a0129 | a0129c0163 | a0129c0163t0009 | a0129c0163t0009g0223 | 1 | 424 | 0.0024 | 6396 | c.694 others(6405): Show |
p.Gly others(6411): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7022/16005 | 6947/15267 | 2316/5088 | chr8 | TogoVar | |||
EPPK1_chr8_143852324_143883467 | 143866306 | C | CCCGGTGT others(6389): Show |
disruptive_inframe_insertion | MODERATE | HG03486.hp2 | a0050 | a0050c0165 | a0050c0165t0009 | a0050c0165t0009g0225 | 1 | 424 | 0.0024 | 6396 | c.694 others(6405): Show |
p.Gly others(6411): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7022/16005 | 6947/15267 | 2316/5088 | chr8 | TogoVar | |||
EPPK1_chr8_143852324_143883467 | 143866306 | C | CCCGGTGT others(6389): Show |
disruptive_inframe_insertion | MODERATE | HG01109.hp2 HG02965.hp2 HG03195.hp2 |
a0083a0145a0151 | a0083c0053a0145c0160a0151c0164 | a0083c0053t0009a0145c0160t0009a0151c0164t0009 | a0083c0053t0009g0211 a0145c0160t0009g0031 a0151c0164t0009g0224 |
3 | 424 | 0.0071 | 6396 | c.694 others(6405): Show |
p.Gly others(6411): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7022/16005 | 6947/15267 | 2316/5088 | chr8 | TogoVar | |||
RIMBP2_chr12_130391133_130721299 | 130646370 | A | ACCACTTC others(6389): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0173 | 1 | 180 | 0.0056 | 6396 | c.-35 others(6417): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar |