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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMKN_chr19_35492220_35518649 | 35511479 | C | CACCACTG others(29): Show |
conservative_inframe_insertion | MODERATE | HG02559.hp1 | a0032 | a0032c0045 | a0032c0045t0001 | a0032c0045t0001g0229 | 1 | 442 | 0.0023 | 36 | c.849 others(43): Show |
p.Gly others(49): Show |
DMKN | ENSG00000161249.21 | transcript | ENST00000339686.8 | protein_coding | 5/16 | 1023/1924 | 849/1431 | 283/476 | chr19 | TogoVar | ||
DMKN_chr19_35492220_35518649 | 35511491 | C | CGCCACTG others(5): Show |
conservative_inframe_insertion | MODERATE | HG00738.hp1 HG00741.hp1 HG01884.hp1 others(14): Show |
a0012a0013a0021 | a0012c0011a0013c0014a0021c0040others(1): Show | a0012c0011t0001a0012c0011t0004a0013c0014t0001others(2): Show | a0012c0011t0001g0169a0012c0011t0001g0170a0012c0011t0001g0171others(11): Show | 17 | 442 | 0.0385 | 12 | c.826 others(19): Show |
p.Gly others(25): Show |
DMKN | ENSG00000161249.21 | transcript | ENST00000339686.8 | protein_coding | 5/16 | 1011/1924 | 837/1431 | 279/476 | chr19 | TogoVar | ||
DMKN_chr19_35492220_35518649 | 35511491 | C | CGCCACTG others(17): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp1 | a0037 | a0037c0033 | a0037c0033t0001 | a0037c0033t0001g0155 | 1 | 442 | 0.0023 | 24 | c.814 others(31): Show |
p.Gly others(37): Show |
DMKN | ENSG00000161249.21 | transcript | ENST00000339686.8 | protein_coding | 5/16 | 1011/1924 | 837/1431 | 279/476 | chr19 | TogoVar | ||
DMKN_chr19_35492220_35518649 | 35511491 | C | CGCCACTG others(29): Show |
conservative_inframe_insertion | MODERATE | NA19043.hp2 | a0042 | a0042c0036 | a0042c0036t0001 | a0042c0036t0001g0172 | 1 | 442 | 0.0023 | 36 | c.837 others(43): Show |
p.Gly others(49): Show |
DMKN | ENSG00000161249.21 | transcript | ENST00000339686.8 | protein_coding | 5/16 | 1011/1924 | 837/1431 | 279/476 | chr19 | TogoVar | ||
DMPK_chr19_45764717_45787490 | 45777553 | G | GGGACCCC others(11): Show |
conservative_inframe_insertion | MODERATE | NA19058.hp1 | a0006 | a0006c0018 | a0006c0018t0001 | a0006c0018t0001g0160 | 1 | 416 | 0.0024 | 18 | c.902 others(25): Show |
p.Leu others(13): Show |
DMPK | ENSG00000104936.20 | transcript | ENST00000291270.9 | protein_coding | 8/15 | 1057/2799 | 919/1890 | 307/629 | chr19 | TogoVar | ||
DNLZ_chr9_136354483_136368744 | 136363675 | T | TCAGCAAC others(26): Show |
conservative_inframe_insertion | MODERATE | HG01081.hp2 HG01123.hp1 HG02273.hp2 others(4): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0016 | a0004c0004t0001g0028a0004c0004t0016g0022 | 7 | 418 | 0.0168 | 33 | c.7_3 others(37): Show |
p.Leu others(44): Show |
DNLZ | ENSG00000213221.5 | transcript | ENST00000371738.4 | protein_coding | 1/3 | 69/3096 | 39/537 | 13/178 | chr9 | TogoVar | ||
DNLZ_chr9_136354483_136368744 | 136363705 | T | TCCGCAGC others(26): Show |
conservative_inframe_insertion | MODERATE | HG02717.hp1 HG03516.hp1 |
a0006a0007 | a0006c0010a0007c0011 | a0006c0010t0030a0007c0011t0001 | a0006c0010t0030g0082a0007c0011t0001g0083 | 2 | 418 | 0.0048 | 33 | c.9_1 others(37): Show |
p.Arg others(42): Show |
DNLZ | ENSG00000213221.5 | transcript | ENST00000371738.4 | protein_coding | 1/3 | 39/3096 | 9/537 | 3/178 | chr9 | TogoVar | ||
DRD4_chr11_632269_645706 | 639988 | A | ACGCCACC others(137): Show |
conservative_inframe_insertion | MODERATE | HG02735.hp2 | a0023 | a0023c0040 | a0023c0040t0001 | a0023c0040t0001g0009 | 1 | 421 | 0.0024 | 144 | c.849 others(151): Show |
p.Pro others(157): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 886/1399 | 850/1260 | 284/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
DRD4_chr11_632269_645706 | 640017 | C | CCCCTGCG others(41): Show |
conservative_inframe_insertion | MODERATE | HG00735.hp1 HG03688.hp2 |
a0015 | a0015c0019 | a0015c0019t0001 | a0015c0019t0001g0002 | 2 | 421 | 0.0048 | 48 | c.793 others(55): Show |
p.Pro others(13): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 877/1399 | 841/1260 | 281/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
DRD4_chr11_632269_645706 | 640023 | C | CGGCCCCG others(41): Show |
conservative_inframe_insertion | MODERATE | HG00673.hp2 HG02165.hp1 NA18944.hp2 others(3): Show |
a0009a0016 | a0009c0010a0016c0017 | a0009c0010t0001a0016c0017t0001 | a0009c0010t0001g0001a0009c0010t0001g0003a0016c0017t0001g0001others(1): Show | 6 | 421 | 0.0143 | 48 | c.801 others(55): Show |
p.Pro others(61): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 838/1399 | 802/1260 | 268/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
DRD4_chr11_632269_645706 | 640028 | C | CCGACTGT others(137): Show |
conservative_inframe_insertion | MODERATE | HG01069.hp1 | a0036 | a0036c0026 | a0036c0026t0001 | a0036c0026t0001g0001 | 1 | 421 | 0.0024 | 144 | c.849 others(151): Show |
p.Pro others(157): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 886/1399 | 850/1260 | 284/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
DRD4_chr11_632269_645706 | 640064 | G | GTCCCTGC others(185): Show |
conservative_inframe_insertion | MODERATE | HG00280.hp1 | a0022 | a0022c0046 | a0022c0046t0002 | a0022c0046t0002g0001 | 1 | 421 | 0.0024 | 192 | c.849 others(199): Show |
p.Pro others(205): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 886/1399 | 850/1260 | 284/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
DRD4_chr11_632269_645706 | 640090 | G | GCCGCGCC others(41): Show |
conservative_inframe_insertion | MODERATE | HG01361.hp1 | a0021 | a0021c0044 | a0021c0044t0001 | a0021c0044t0001g0002 | 1 | 421 | 0.0024 | 48 | c.849 others(55): Show |
p.Pro others(61): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 886/1399 | 850/1260 | 284/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
DRD4_chr11_632269_645706 | 640090 | G | GCCGCGCC others(137): Show |
conservative_inframe_insertion | MODERATE | HG01891.hp2 | a0020 | a0020c0043 | a0020c0043t0001 | a0020c0043t0001g0051 | 1 | 421 | 0.0024 | 144 | c.849 others(151): Show |
p.Pro others(157): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 886/1399 | 850/1260 | 284/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
DRD4_chr11_632269_645706 | 640090 | G | GCCGCGCC others(137): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00323.hp1 HG00639.hp2 others(51): Show |
a0000a0002a0006others(2): Show | a0000c0011a0002c0002a0002c0015others(3): Show | a0000c0011t0001a0002c0002t0001a0002c0015t0001others(3): Show | a0000c0011t0001g0002a0000c0011t0001g0010a0002c0002t0001g0002others(8): Show | 54 | 421 | 0.1283 | 144 | c.849 others(151): Show |
p.Pro others(157): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 886/1399 | 850/1260 | 284/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
DRD4_chr11_632269_645706 | 640090 | G | GCCGCGCC others(137): Show |
conservative_inframe_insertion | MODERATE | HG01257.hp1 HG01258.hp1 |
a0012 | a0012c0021 | a0012c0021t0001 | a0012c0021t0001g0002 | 2 | 421 | 0.0048 | 144 | c.849 others(151): Show |
p.Pro others(157): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 886/1399 | 850/1260 | 284/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
DRD4_chr11_632269_645706 | 640090 | G | GCCGCGCC others(281): Show |
conservative_inframe_insertion | MODERATE | HG01433.hp2 | a0028 | a0028c0047 | a0028c0047t0001 | a0028c0047t0001g0002 | 1 | 421 | 0.0024 | 288 | c.849 others(295): Show |
p.Pro others(301): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 886/1399 | 850/1260 | 284/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
DRD4_chr11_632269_645706 | 640138 | C | CCCCGCGC others(92): Show |
conservative_inframe_insertion | MODERATE | NA19000.hp1 | a0024 | a0024c0041 | a0024c0041t0001 | a0024c0041t0001g0010 | 1 | 421 | 0.0024 | 99 | c.891 others(106): Show |
p.Pro others(112): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 928/1399 | 892/1260 | 298/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
DRICH1_chr22_23603452_23637321 | 23617579 | G | GCAT | conservative_inframe_insertion | MODERATE | HG01346.hp2 HG02257.hp1 HG02622.hp2 others(4): Show |
a0005a0007a0012 | a0005c0006a0007c0005a0012c0013 | a0005c0006t0001a0007c0005t0004a0007c0005t0006others(1): Show | a0005c0006t0001g0133a0005c0006t0001g0135a0005c0006t0001g0136others(4): Show | 7 | 446 | 0.0157 | 3 | c.512 others(10): Show |
p.Asp others(6): Show |
DRICH1 | ENSG00000189269.13 | transcript | ENST00000317749.9 | protein_coding | 7/12 | 812/1300 | 514/690 | 172/229 | chr22 | TogoVar | ||
DSG4_chr18_31371777_31419909 | 31411386 | A | ACCTCAGG others(32): Show |
conservative_inframe_insertion | MODERATE | HG02109.hp2 | a0017 | a0017c0031 | a0017c0031t0013 | a0017c0031t0013g0090 | 1 | 344 | 0.0029 | 39 | c.229 others(48): Show |
p.Thr others(52): Show |
DSG4 | ENSG00000175065.12 | transcript | ENST00000308128.9 | protein_coding | 15/16 | 2431/4572 | 2296/3123 | 766/1040 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |
EFEMP2_chr11_65861441_65877800 | 65869953 | C | CCCAAGCA others(17): Show |
conservative_inframe_insertion | MODERATE | HG01943.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0026 | 1 | 374 | 0.0027 | 24 | c.630 others(31): Show |
p.Gly others(37): Show |
EFEMP2 | ENSG00000172638.13 | transcript | ENST00000307998.11 | protein_coding | 7/11 | 755/1934 | 630/1332 | 210/443 | chr11 | TogoVar | ||
EMILIN3_chr20_41354962_41371818 | 41361519 | G | GCTGAAGT others(14): Show |
conservative_inframe_insertion | MODERATE | HG02572.hp1 HG02572.hp2 HG03041.hp1 |
a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0020 | 3 | 430 | 0.0070 | 21 | c.202 others(30): Show |
p.Gln others(34): Show |
EMILIN3 | ENSG00000183798.5 | transcript | ENST00000332312.4 | protein_coding | 4/4 | 2233/3791 | 2049/2301 | 683/766 | chr20 | TogoVar | ||
EOMES_chr3_27710953_27727323 | 27721936 | G | GCGGCGC | conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(217): Show |
a0001 | a0001c0001a0001c0008a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(40): Show | 220 | 400 | 0.5500 | 6 | c.358 others(13): Show |
p.Ala others(19): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 1/6 | 387/3264 | 358/2118 | 120/705 | chr3 | TogoVar | ||
EPHB6_chr7_142850076_142876093 | 142865497 | G | GGCTTCTG others(8): Show |
conservative_inframe_insertion | MODERATE | HG06807.hp1 | a0012 | a0012c0016 | a0012c0016t0004 | a0012c0016t0004g0098 | 1 | 311 | 0.0032 | 15 | c.976 others(22): Show |
p.Ser others(13): Show |
EPHB6 | ENSG00000106123.12 | transcript | ENST00000652003.1 | protein_coding | 8/20 | 1732/3999 | 991/3069 | 331/1022 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
EPPK1_chr8_143852324_143883467 | 143858958 | G | GGGCGGCG others(2): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(169): Show |
a0003a0007a0008others(132): Show | a0003c0008a0003c0030a0003c0031others(148): Show | a0003c0008t0003a0003c0030t0003a0003c0031t0003others(155): Show | a0003c0008t0003g0027a0003c0008t0003g0360a0003c0030t0003g0010others(158): Show | 172 | 424 | 0.4057 | 9 | c.142 others(20): Show |
p.Ala others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 14370/16005 | 14295/15267 | 4765/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143858958 | G | GGGCGGCG others(5): Show |
conservative_inframe_insertion | MODERATE | HG01261.hp1 | a0277 | a0277c0121 | a0277c0121t0002 | a0277c0121t0002g0175 | 1 | 424 | 0.0024 | 12 | c.142 others(23): Show |
p.Ala others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 14370/16005 | 14295/15267 | 4765/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143859329 | T | TCGGCCTC others(25142): Show |
conservative_inframe_insertion | MODERATE | HG02809.hp1 | a0063 | a0063c0159 | a0063c0159t0004 | a0063c0159t0004g0059 | 1 | 424 | 0.0024 | 25149 | c.139 others(25160): Show |
p.Ala others(25164): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13999/16005 | 13924/15267 | 4642/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143859329 | T | TCGGCCTC others(11138): Show |
conservative_inframe_insertion | MODERATE | HG02723.hp2 | a0110 | a0110c0046 | a0110c0046t0010 | a0110c0046t0010g0071 | 1 | 424 | 0.0024 | 11145 | c.139 others(11156): Show |
p.Ala others(11160): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13999/16005 | 13924/15267 | 4642/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143859329 | T | TCGGCCTC others(12731): Show |
conservative_inframe_insertion | MODERATE | HG03139.hp1 | a0209 | a0209c0214 | a0209c0214t0010 | a0209c0214t0010g0212 | 1 | 424 | 0.0024 | 12738 | c.139 others(12749): Show |
p.Ala others(12753): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13999/16005 | 13924/15267 | 4642/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143859329 | T | TCGGCCTC others(9545): Show |
conservative_inframe_insertion | MODERATE | HG03516.hp1 | a0112 | a0112c0045 | a0112c0045t0010 | a0112c0045t0010g0070 | 1 | 424 | 0.0024 | 9552 | c.139 others(9563): Show |
p.Ala others(9567): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13999/16005 | 13924/15267 | 4642/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143859329 | T | TCGGCCTC others(12731): Show |
conservative_inframe_insertion | MODERATE | HG03540.hp1 | a0111 | a0111c0047 | a0111c0047t0010 | a0111c0047t0010g0072 | 1 | 424 | 0.0024 | 12738 | c.139 others(12749): Show |
p.Ala others(12753): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13999/16005 | 13924/15267 | 4642/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143859329 | T | TCGGCCTC others(9545): Show |
conservative_inframe_insertion | MODERATE | HG03130.hp2 | a0113 | a0113c0048 | a0113c0048t0010 | a0113c0048t0010g0216 | 1 | 424 | 0.0024 | 9552 | c.139 others(9563): Show |
p.Ala others(9567): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13999/16005 | 13924/15267 | 4642/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143859329 | T | TCGGCCTC others(3191): Show |
conservative_inframe_insertion | MODERATE | HG02129.hp2 NA18944.hp1 |
a0155a0156 | a0155c0292a0156c0290 | a0155c0292t0002a0156c0290t0002 | a0155c0292t0002g0186a0156c0290t0002g0185 | 2 | 424 | 0.0047 | 3198 | c.139 others(3209): Show |
p.Ala others(3213): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13999/16005 | 13924/15267 | 4642/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143859329 | T | TCGGCCTC others(4784): Show |
conservative_inframe_insertion | MODERATE | NA18949.hp1 | a0249 | a0249c0108 | a0249c0108t0001 | a0249c0108t0001g0295 | 1 | 424 | 0.0024 | 4791 | c.139 others(4802): Show |
p.Ala others(4806): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13999/16005 | 13924/15267 | 4642/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143859329 | T | TCGGCCTC others(3188): Show |
conservative_inframe_insertion | MODERATE | HG03486.hp1 | a0056 | a0056c0158 | a0056c0158t0001 | a0056c0158t0001g0048 | 1 | 424 | 0.0024 | 3195 | c.139 others(3206): Show |
p.Ala others(3210): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13999/16005 | 13924/15267 | 4642/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143859329 | T | TCGGCCTC others(3188): Show |
conservative_inframe_insertion | MODERATE | HG02818.hp2 | a0058 | a0058c0155 | a0058c0155t0001 | a0058c0155t0001g0047 | 1 | 424 | 0.0024 | 3195 | c.139 others(3206): Show |
p.Ala others(3210): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13999/16005 | 13924/15267 | 4642/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143859335 | T | TCGGCCCG others(3155): Show |
conservative_inframe_insertion | MODERATE | HG01884.hp1 | a0054 | a0054c0340 | a0054c0340t0027 | a0054c0340t0027g0045 | 1 | 424 | 0.0024 | 3162 | c.139 others(3173): Show |
p.Ala others(3177): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13993/16005 | 13918/15267 | 4640/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143860041 | C | CGGTGGCC others(3188): Show |
conservative_inframe_insertion | MODERATE | NA20300.hp2 | a0117 | a0117c0051 | a0117c0051t0004 | a0117c0051t0004g0205 | 1 | 424 | 0.0024 | 3195 | c.132 others(3206): Show |
p.Thr others(3210): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13287/16005 | 13212/15267 | 4404/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143860133 | T | TGGCCGGG others(4772): Show |
conservative_inframe_insertion | MODERATE | HG02257.hp2 | a0194 | a0194c0230 | a0194c0230t0021 | a0194c0230t0021g0057 | 1 | 424 | 0.0024 | 4779 | c.131 others(4790): Show |
p.Gly others(4794): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13195/16005 | 13120/15267 | 4374/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143860133 | T | TGGCCGGG others(3197): Show |
conservative_inframe_insertion | MODERATE | HG01361.hp1 | a0191 | a0191c0237 | a0191c0237t0001 | a0191c0237t0001g0068 | 1 | 424 | 0.0024 | 3204 | c.131 others(3215): Show |
p.Arg others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13195/16005 | 13120/15267 | 4374/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143860257 | G | GCAGGGTC others(12737): Show |
conservative_inframe_insertion | MODERATE | HG02572.hp1 | a0124 | a0124c0327 | a0124c0327t0005 | a0124c0327t0005g0222 | 1 | 424 | 0.0024 | 12744 | c.129 others(12755): Show |
p.Leu others(12759): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13071/16005 | 12996/15267 | 4332/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143860314 | G | GCCTCAGG others(3197): Show |
conservative_inframe_insertion | MODERATE | NA19066.hp2 | a0139 | a0139c0314 | a0139c0314t0019 | a0139c0314t0019g0331 | 1 | 424 | 0.0024 | 3204 | c.973 others(3214): Show |
p.Arg others(3219): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13014/16005 | 12939/15267 | 4313/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143860557 | G | GGGC | conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00609.hp1 HG01099.hp1 others(14): Show |
a0039a0042a0046others(10): Show | a0039c0023a0042c0088a0042c0092others(11): Show | a0039c0023t0002a0039c0023t0007a0042c0088t0002others(12): Show | a0039c0023t0002g0278a0039c0023t0007g0346a0042c0088t0002g0371others(13): Show | 17 | 424 | 0.0401 | 3 | c.126 others(14): Show |
p.Ala others(7): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 12771/16005 | 12696/15267 | 4232/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143860566 | C | CGGCGGCC others(3179): Show |
conservative_inframe_insertion | MODERATE | HG03139.hp2 | a0059 | a0059c0152 | a0059c0152t0001 | a0059c0152t0001g0274 | 1 | 424 | 0.0024 | 3186 | c.126 others(3197): Show |
p.Thr others(3201): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 12762/16005 | 12687/15267 | 4229/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143860566 | C | CGGCGGCC others(12737): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp1 | a0141 | a0141c0301 | a0141c0301t0001 | a0141c0301t0001g0188 | 1 | 424 | 0.0024 | 12744 | c.126 others(12755): Show |
p.Thr others(12759): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 12762/16005 | 12687/15267 | 4229/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143860812 | T | TGCTCACG others(1586): Show |
conservative_inframe_insertion | MODERATE | HG02300.hp1 | a0224 | a0224c0204 | a0224c0204t0005 | a0224c0204t0005g0073 | 1 | 424 | 0.0024 | 1593 | c.124 others(1604): Show |
p.Ser others(1608): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 12516/16005 | 12441/15267 | 4147/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143860812 | T | TGCTCACG others(6374): Show |
conservative_inframe_insertion | MODERATE | HG02809.hp2 HG02895.hp2 HG03041.hp1 |
a0029a0132 | a0029c0040a0132c0286 | a0029c0040t0001a0029c0040t0004a0132c0286t0004 | a0029c0040t0001g0060a0029c0040t0004g0056a0132c0286t0004g0054 | 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 | ||
EPPK1_chr8_143852324_143883467 | 143861076 | A | AGAGGAGC others(3188): Show |
conservative_inframe_insertion | MODERATE | NA19043.hp1 | a0104 | a0104c0167 | a0104c0167t0001 | a0104c0167t0001g0208 | 1 | 424 | 0.0024 | 3195 | c.121 others(3206): Show |
p.Leu others(3210): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 12252/16005 | 12177/15267 | 4059/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143861694 | C | CGCCCTTC others(1595): Show |
conservative_inframe_insertion | MODERATE | NA18971.hp2 NA19054.hp1 |
a0217a0286 | a0217c0267a0286c0061 | a0217c0267t0002a0286c0061t0002 | a0217c0267t0002g0130a0286c0061t0002g0315 | 2 | 424 | 0.0047 | 1602 | c.115 others(1613): Show |
p.Gly others(1617): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11634/16005 | 11559/15267 | 3853/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143861904 | C | CGGACACC others(3188): Show |
conservative_inframe_insertion | MODERATE | NA19090.hp1 | a0192 | a0192c0235 | a0192c0235t0001 | a0192c0235t0001g0326 | 1 | 424 | 0.0024 | 3195 | c.113 others(3206): Show |
p.Ser others(3210): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11424/16005 | 11349/15267 | 3783/5088 | chr8 | TogoVar |