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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DRD4_chr11_632269_645706 | 639988 | A | ACGCCACC others(137): Show |
conservative_inframe_insertion | MODERATE | HG02735.hp2 | a0015 | a0015c0029 | a0015c0029t0001 | a0015c0029t0001g0009 | 1 | 420 | 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 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 2 | 420 | 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 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0002c0003t0001g0001 others(1): Show |
6 | 419 | 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 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0001 | 1 | 420 | 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 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 420 | 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 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 354 | 0.0028 | 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 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0050 | 1 | 354 | 0.0028 | 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(50): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0010a0002c0003others(3): Show | a0001c0002t0001a0001c0010t0001a0002c0003t0001others(3): Show | a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0012 others(8): Show |
53 | 406 | 0.1305 | 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 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 2 | 355 | 0.0056 | 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 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 354 | 0.0028 | 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 | a0022 | a0022c0027 | a0022c0027t0001 | a0022c0027t0001g0010 | 1 | 418 | 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 |
a0005a0007 | a0005c0006a0005c0013a0007c0005 | a0005c0006t0001a0005c0013t0001a0007c0005t0004others(1): Show | a0005c0006t0001g0132 a0005c0006t0001g0134 a0005c0006t0001g0135 others(4): Show |
7 | 443 | 0.0158 | 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 | a0015 | a0015c0031 | a0015c0031t0013 | a0015c0031t0013g0090 | 1 | 336 | 0.0030 | 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 | 372 | 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 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0019 | 3 | 428 | 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 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(33): Show |
220 | 397 | 0.5542 | 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 | a0008 | a0008c0016 | a0008c0016t0004 | a0008c0016t0004g0098 | 1 | 310 | 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(168): Show |
a0001a0003a0004others(84): Show | a0001c0001a0003c0003a0003c0006others(111): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0002others(128): Show | a0001c0001t0001g0005 a0001c0001t0001g0053 a0001c0001t0002g0100 others(147): Show |
171 | 420 | 0.4071 | 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 | a0003 | a0003c0103 | a0003c0103t0002 | a0003c0103t0002g0212 | 1 | 250 | 0.0040 | 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 | a0105 | a0105c0126 | a0105c0126t0004 | a0105c0126t0004g0231 | 1 | 406 | 0.0025 | 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 | a0027 | a0027c0027 | a0027c0027t0010 | a0027c0027t0010g0031 | 1 | 406 | 0.0025 | 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 | a0115 | a0115c0167 | a0115c0167t0010 | a0115c0167t0010g0118 | 1 | 406 | 0.0025 | 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 | a0027 | a0027c0057 | a0027c0057t0010 | a0027c0057t0010g0229 | 1 | 406 | 0.0025 | 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 | a0027 | a0027c0027 | a0027c0027t0010 | a0027c0027t0010g0031 | 1 | 406 | 0.0025 | 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 | a0114 | a0114c0058 | a0114c0058t0010 | a0114c0058t0010g0074 | 1 | 406 | 0.0025 | 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 |
a0014 | a0014c0013 | a0014c0013t0002 | a0014c0013t0002g0030 | 2 | 407 | 0.0049 | 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 | a0009 | a0009c0037 | a0009c0037t0001 | a0009c0037t0001g0294 | 1 | 406 | 0.0025 | 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 | a0119 | a0119c0125 | a0119c0125t0001 | a0119c0125t0001g0127 | 1 | 406 | 0.0025 | 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 | a0028 | a0028c0018 | a0028c0018t0001 | a0028c0018t0001g0017 | 1 | 406 | 0.0025 | 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 | a0078 | a0078c0230 | a0078c0230t0026 | a0078c0230t0026g0275 | 1 | 422 | 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 | a0166 | a0166c0061 | a0166c0061t0004 | a0166c0061t0004g0268 | 1 | 422 | 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 | a0091 | a0091c0173 | a0091c0173t0021 | a0091c0173t0021g0061 | 1 | 199 | 0.0050 | 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 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0022 | 1 | 199 | 0.0050 | 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 | a0096 | a0096c0218 | a0096c0218t0005 | a0096c0218t0005g0248 | 1 | 422 | 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 | a0002 | a0002c0210 | a0002c0210t0019 | a0002c0210t0019g0323 | 1 | 412 | 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 |
a0003a0006a0026others(7): Show | a0003c0114a0006c0009a0006c0085others(11): Show | a0003c0114t0002a0006c0009t0002a0006c0085t0002others(12): Show | a0003c0114t0002g0302 a0006c0009t0002g0040 a0006c0009t0002g0105 others(13): Show |
17 | 420 | 0.0405 | 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 | a0028 | a0028c0018 | a0028c0018t0001 | a0028c0018t0001g0017 | 1 | 417 | 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 | a0092 | a0092c0201 | a0092c0201t0001 | a0092c0201t0001g0224 | 1 | 417 | 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 | a0094 | a0094c0159 | a0094c0159t0005 | a0094c0159t0005g0243 | 1 | 268 | 0.0037 | 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 |
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 | |||
EPPK1_chr8_143852324_143883467 | 143861076 | A | AGAGGAGC others(3188): Show |
conservative_inframe_insertion | MODERATE | NA19043.hp1 | a0011 | a0011c0044 | a0011c0044t0001 | a0011c0044t0001g0271 | 1 | 422 | 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 |
a0146a0156 | a0146c0069a0156c0185 | a0146c0069t0002a0156c0185t0002 | a0146c0069t0002g0311 a0156c0185t0002g0172 |
2 | 422 | 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 | a0163 | a0163c0174 | a0163c0174t0001 | a0163c0174t0001g0319 | 1 | 422 | 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 | |||
EPPK1_chr8_143852324_143883467 | 143862159 | G | GGGC | conservative_inframe_insertion | MODERATE | HG00741.hp1 HG01070.hp1 HG01071.hp2 others(9): Show |
a0013a0023a0036others(3): Show | a0013c0056a0013c0191a0013c0192others(6): Show | a0013c0056t0002a0013c0191t0002a0013c0192t0006others(7): Show | a0013c0056t0002g0035 a0013c0191t0002g0149 a0013c0192t0006g0334 others(8): Show |
12 | 401 | 0.0299 | 3 | c.110 others(14): Show |
p.Ala others(7): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11169/16005 | 11094/15267 | 3698/5088 | chr8 | TogoVar | |||
EPPK1_chr8_143852324_143883467 | 143862162 | C | CGGCGGCG others(6401): Show |
stop_gained others(1): Show |
HIGH | HG02109.hp1 | a0086 | a0086c0229 | a0086c0229t0009 | a0086c0229t0009g0240 | 1 | 379 | 0.0026 | 6408 | c.110 others(6419): Show |
p.Ala others(6423): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11166/16005 | 11091/15267 | 3697/5088 | chr8 | TogoVar | |||
EPPK1_chr8_143852324_143883467 | 143862168 | C | CGGCGGCC others(4763): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp2 | a0093 | a0093c0221 | a0093c0221t0004 | a0093c0221t0004g0262 | 1 | 412 | 0.0024 | 4770 | c.110 others(4781): Show |
p.Thr others(4785): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11160/16005 | 11085/15267 | 3695/5088 | chr8 | TogoVar | |||
EPPK1_chr8_143852324_143883467 | 143862168 | C | CGGCGGCC others(19118): Show |
conservative_inframe_insertion | MODERATE | HG02630.hp1 | a0099 | a0099c0224 | a0099c0224t0004 | a0099c0224t0004g0115 | 1 | 412 | 0.0024 | 19125 | c.110 others(19136): Show |
p.Thr others(19140): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11160/16005 | 11085/15267 | 3695/5088 | chr8 | TogoVar | |||
EPPK1_chr8_143852324_143883467 | 143862168 | C | CGGCGGCC others(7949): Show |
conservative_inframe_insertion | MODERATE | NA18906.hp1 | a0136 | a0136c0222 | a0136c0222t0004 | a0136c0222t0004g0113 | 1 | 412 | 0.0024 | 7956 | c.110 others(7967): Show |
p.Thr others(7971): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11160/16005 | 11085/15267 | 3695/5088 | chr8 | TogoVar | |||
EPPK1_chr8_143852324_143883467 | 143862168 | C | CGGCGGCC others(9542): Show |
conservative_inframe_insertion | MODERATE | HG03471.hp2 | a0118 | a0118c0119 | a0118c0119t0001 | a0118c0119t0001g0066 | 1 | 412 | 0.0024 | 9549 | c.110 others(9560): Show |
p.Thr others(9564): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11160/16005 | 11085/15267 | 3695/5088 | chr8 | TogoVar | |||
EPPK1_chr8_143852324_143883467 | 143862168 | C | CGGCGGCC others(9542): Show |
conservative_inframe_insertion | MODERATE | HG03225.hp1 | a0116 | a0116c0123 | a0116c0123t0004 | a0116c0123t0004g0264 | 1 | 412 | 0.0024 | 9549 | c.110 others(9560): Show |
p.Thr others(9564): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11160/16005 | 11085/15267 | 3695/5088 | chr8 | TogoVar |