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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NBPF9_chr1_149047186_149108551 | 149061657 | A | AGTTCAAA others(6357): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0007 | a0007c0009 | a0007c0009t0007 | a0007c0009t0007g0151 | 1 | 325 | 0.0031 | 6364 | c.225 others(6381): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 22/29 | chr1 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(6357): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01074.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 2 | 199 | 0.0101 | 6364 | c.340 others(6381): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6359): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0082 | 1 | 62 | 0.0161 | 6366 | c.406 others(6383): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
THRB_chr3_24112153_24499850 | 24238474 | T | TAAGACTG others(6360): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0026 | 1 | 176 | 0.0057 | 6367 | c.-42 others(6384): Show |
THRB | ENSG00000151090.20 | transcript | ENST00000646209.2 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
ZDHHC14_chr6_157376190_157683157 | 157547704 | A | ACTAAAAT others(6360): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0174 | 1 | 62 | 0.0161 | 6367 | c.406 others(6384): 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(6360): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0009 | a0003c0009t0052 | a0003c0009t0052g0004 | 1 | 62 | 0.0161 | 6367 | c.406 others(6384): 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(6360): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01433.hp2 HG01884.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(1): Show | a0001c0002t0001g0080 a0001c0002t0002g0077 a0001c0002t0002g0128 others(6): Show |
9 | 70 | 0.1286 | 6367 | c.406 others(6384): 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 | HG00621.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0012 | 1 | 62 | 0.0161 | 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 | HG00738.hp2 HG01074.hp1 HG01168.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(1): Show | a0001c0002t0001g0007 a0001c0002t0001g0057 a0001c0002t0001g0058 others(3): Show |
6 | 67 | 0.0896 | 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 | HG03491.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0037 | 1 | 62 | 0.0161 | 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 | 62 | 0.0161 | 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 | 63 | 0.0317 | 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 | 63 | 0.0317 | 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 | 62 | 0.0161 | 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 | 62 | 0.0161 | 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 | a0001c0002t0046 | a0001c0002t0046g0052 | 1 | 62 | 0.0161 | 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 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(10): Show | a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0002g0042 others(17): Show |
20 | 81 | 0.2469 | 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 | 62 | 0.0161 | 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 | 62 | 0.0161 | 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 | a0001c0002t0044 | a0001c0002t0044g0030 | 1 | 62 | 0.0161 | 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 | 64 | 0.0469 | 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 | 198 | 0.0051 | 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 | 62 | 0.0161 | 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 | a0001c0002t0041 | a0001c0002t0041g0008 | 1 | 62 | 0.0161 | 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 | a0001c0002t0048 | a0001c0002t0048g0105 | 1 | 62 | 0.0161 | 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 | 62 | 0.0161 | 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 | 62 | 0.0161 | 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 | 62 | 0.0161 | 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 | 62 | 0.0161 | 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 | 62 | 0.0161 | 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 | a0001c0002t0002a0001c0002t0030a0001c0002t0050others(2): Show | a0001c0002t0002g0151 a0001c0002t0030g0097 a0001c0002t0050g0130 others(2): Show |
5 | 66 | 0.0758 | 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 | 62 | 0.0161 | 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 | a0001c0002t0036 | a0001c0002t0036g0159 | 1 | 62 | 0.0161 | 6371 | c.406 others(6388): Show |
ZDHHC14 | ENSG00000175048.17 | transcript | ENST00000359775.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143862500 | C | CGCAGGGC others(6365): Show |
conservative_inframe_insertion | MODERATE | HG02280.hp2 HG02630.hp2 |
a0039 | a0039c0042 | a0039c0042t0004 | a0039c0042t0004g0067 a0039c0042t0004g0071 |
2 | 422 | 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 | a0001c0001t0002g0081 | 1 | 8 | 0.1250 | 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 | a0001c0001t0002 | a0001c0001t0002g0263 a0001c0001t0002g0299 |
2 | 229 | 0.0087 | 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 | a0001c0001t0002 | a0001c0001t0002g0232 a0001c0001t0002g0303 |
2 | 226 | 0.0088 | 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 | a0001c0001t0016a0001c0001t0049a0001c0001t0056 | a0001c0001t0016g0284 a0001c0001t0049g0268 a0001c0001t0056g0269 |
3 | 227 | 0.0132 | 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 | a0001c0001t0002 | a0001c0001t0002g0217 a0001c0001t0002g0227 a0001c0001t0002g0228 others(3): Show |
6 | 230 | 0.0261 | 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 | a0001c0001t0002 | a0001c0001t0002g0218 a0001c0001t0002g0265 |
2 | 226 | 0.0088 | 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 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 225 | 0.0044 | 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 | a0001c0001t0002 | a0001c0001t0002g0314 | 1 | 225 | 0.0044 | 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 | a0001c0001t0026 | a0001c0001t0026g0261 | 1 | 225 | 0.0044 | 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 | 39 | 0.0256 | 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 | a0003c0041 | a0003c0041t0005 | a0003c0041t0005g0094 | 1 | 173 | 0.0058 | 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 | a0001c0021t0006g0282 | 1 | 173 | 0.0058 | 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 | 173 | 0.0058 | 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 |
a0040a0111 | a0040c0051a0111c0198 | a0040c0051t0001a0040c0051t0004a0111c0198t0004 | a0040c0051t0001g0056 a0040c0051t0004g0060 a0111c0198t0004g0058 |
3 | 270 | 0.0111 | 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 | a0001c0001t0012g0189 | 1 | 277 | 0.0036 | 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 | 351 | 0.0028 | 6384 | c.114 others(6401): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar |