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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPPK1_chr8_143852324_143883467 | 143862200 | T | TCCCCCTG others(3199): Show |
frameshift_variant others(1): Show |
HIGH | HG04199.hp1 | a0086 | a0086c0189 | a0086c0189t0001 | a0086c0189t0001g0367 | 1 | 424 | 0.0024 | 3206 | c.110 others(3217): Show |
p.Glu others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11128/16005 | 11053/15267 | 3685/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143863366 | GACGCCCG others(1576): Show |
G | frameshift_variant | HIGH | NA18944.hp2 | a0200 | a0200c0250 | a0200c0250t0001 | a0200c0250t0001g0317 | 1 | 424 | 0.0024 | -1583 | c.830 others(9): Show |
p.Ala others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9962/16005 | 8305/15267 | 2769/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143863761 | G | GGGGCGGC others(6): Show |
frameshift_variant | HIGH | NA19076.hp2 | a0266 | a0266c0098 | a0266c0098t0002 | a0266c0098t0002g0090 | 1 | 424 | 0.0024 | 13 | c.949 others(22): Show |
p.Arg others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9567/16005 | 9492/15267 | 3164/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143863764 | C | CGGCGGCG others(17526): Show |
frameshift_variant others(1): Show |
HIGH | HG03041.hp2 | a0025 | a0025c0161 | a0025c0161t0001 | a0025c0161t0001g0196 | 1 | 424 | 0.0024 | 17533 | c.948 others(17542): Show |
p.Ala others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9564/16005 | 9489/15267 | 3163/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143864004 | C | CCCTGCTC others(3187): Show |
frameshift_variant others(1): Show |
HIGH | NA18957.hp2 | a0171 | a0171c0253 | a0171c0253t0001 | a0171c0253t0001g0085 | 1 | 424 | 0.0024 | 3194 | c.924 others(3203): Show |
p.Ala others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9324/16005 | 9249/15267 | 3083/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143864337 | C | CGCGCAGG others(10): Show |
frameshift_variant | HIGH | NA19054.hp2 | a0238 | a0238c0077 | a0238c0077t0002 | a0238c0077t0002g0293 | 1 | 424 | 0.0024 | 17 | c.890 others(26): Show |
p.Asp others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 8991/16005 | 8916/15267 | 2972/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143864712 | C | CGGTGTAG others(6382): Show |
frameshift_variant others(1): Show |
HIGH | HG02896.hp1 | a0128 | a0128c0277 | a0128c0277t0022 | a0128c0277t0022g0032 | 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 | 143865718 | G | GTCTGGGC others(1599): Show |
frameshift_variant | HIGH | HG02055.hp1 | a0253 | a0253c0080 | a0253c0080t0007 | a0253c0080t0007g0161 | 1 | 424 | 0.0024 | 1606 | c.753 others(1615): Show |
p.Asp others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7610/16005 | 7535/15267 | 2512/5088 | chr8 | TogoVar | ||
EPPK1_chr8_143852324_143883467 | 143865788 | AGGGTGGC others(21): Show |
A | frameshift_variant | HIGH | NA19076.hp1 | a0226 | a0226c0326 | a0226c0326t0005 | a0226c0326t0005g0050 | 1 | 424 | 0.0024 | -28 | c.743 others(37): Show |
p.Leu others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 7540/16005 | 7438/15267 | 2480/5088 | chr8 | TogoVar | ||
EPS8L3_chr1_109745080_109768923 | 109757952 | TCCTTGTT others(48): Show |
T | frameshift_variant | HIGH | HG02698.hp1 | a0017 | a0017c0023 | a0017c0023t0001 | a0017c0023t0001g0160 | 1 | 426 | 0.0024 | -55 | c.769 others(62): Show |
p.Glu others(5): Show |
EPS8L3 | ENSG00000198758.11 | transcript | ENST00000361965.9 | protein_coding | 9/19 | 949/2219 | 769/1782 | 257/593 | chr1 | TogoVar | ||
ERBB3_chr12_56075165_56108505 | 56099889 | AACAAGAA others(49): Show |
A | frameshift_variant | HIGH | HG03491.hp1 | a0011 | a0011c0010 | a0011c0010t0002 | a0011c0010t0002g0115 | 1 | 392 | 0.0026 | -56 | c.299 others(65): Show |
p.Asn others(5): Show |
ERBB3 | ENSG00000065361.17 | transcript | ENST00000267101.8 | protein_coding | 25/28 | 3126/5615 | 2990/4029 | 997/1342 | chr12 | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72205075 | CT | C | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | -1 | c.369 others(5): Show |
p.Ser others(6): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 3807/4218 | 3691/3753 | 1231/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72205531 | A | AT | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | 1 | c.323 others(5): Show |
p.Ile others(6): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 3351/4218 | 3235/3753 | 1079/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72205540 | GA | G | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | -1 | c.322 others(5): Show |
p.Ser others(6): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 3342/4218 | 3226/3753 | 1076/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72205718 | CT | C | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | -1 | c.304 others(5): Show |
p.Ala others(6): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 3164/4218 | 3048/3753 | 1016/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72206045 | C | CA | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | 1 | c.272 others(5): Show |
p.Ala others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 2837/4218 | 2721/3753 | 907/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72206089 | C | CA | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | 1 | c.267 others(5): Show |
p.Cys others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 2793/4218 | 2677/3753 | 893/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72206132 | G | GC | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | 1 | c.263 others(5): Show |
p.Pro others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 2750/4218 | 2634/3753 | 878/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72206357 | CT | C | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | -1 | c.240 others(5): Show |
p.Gly others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 2525/4218 | 2409/3753 | 803/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72206452 | A | AT | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | 1 | c.231 others(5): Show |
p.Met others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 2430/4218 | 2314/3753 | 772/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72206532 | A | AG | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | 1 | c.223 others(5): Show |
p.Lys others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 2350/4218 | 2234/3753 | 745/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72206579 | A | AG | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | 1 | c.218 others(5): Show |
p.Trp others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 2303/4218 | 2187/3753 | 729/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72206608 | TC | T | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | -1 | c.215 others(5): Show |
p.Glu others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 2274/4218 | 2158/3753 | 720/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72206657 | CT | C | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | -1 | c.210 others(5): Show |
p.Ala others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 2225/4218 | 2109/3753 | 703/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72206663 | G | GT | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | 1 | c.210 others(10): Show |
p.Gln others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 2219/4218 | 2103/3753 | 701/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72206853 | G | GGT | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | 2 | c.191 others(11): Show |
p.Gln others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 2029/4218 | 1913/3753 | 638/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72206925 | GT | G | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | -1 | c.184 others(5): Show |
p.Asn others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 1957/4218 | 1841/3753 | 614/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72206967 | GA | G | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | -1 | c.179 others(5): Show |
p.Phe others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 1915/4218 | 1799/3753 | 600/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72206980 | C | CT | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | 1 | c.178 others(5): Show |
p.Arg others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 1902/4218 | 1786/3753 | 596/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72206986 | A | AT | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | 1 | c.178 others(5): Show |
p.Ile others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 1896/4218 | 1780/3753 | 594/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72207289 | T | TC | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | 1 | c.147 others(5): Show |
p.Glu others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 1593/4218 | 1477/3753 | 493/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72207301 | A | AG | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | 1 | c.146 others(5): Show |
p.Leu others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 1581/4218 | 1465/3753 | 489/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72207370 | AT | A | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | -1 | c.139 others(5): Show |
p.Met others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 1512/4218 | 1396/3753 | 466/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72207397 | TC | T | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | -1 | c.136 others(5): Show |
p.Glu others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 1485/4218 | 1369/3753 | 457/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72207543 | CT | C | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | -1 | c.122 others(5): Show |
p.Lys others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 1339/4218 | 1223/3753 | 408/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72207614 | C | CA | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | 1 | c.115 others(5): Show |
p.Val others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 1268/4218 | 1152/3753 | 384/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72207680 | T | TG | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | 1 | c.108 others(5): Show |
p.Arg others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 1202/4218 | 1086/3753 | 362/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72207953 | C | CAA | frameshift_variant | HIGH | NA18953.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0211 | 1 | 286 | 0.0035 | 2 | c.812 others(9): Show |
p.Asp others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 929/4218 | 813/3753 | 271/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72208106 | CA | C | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | -1 | c.660 others(4): Show |
p.Phe others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 776/4218 | 660/3753 | 220/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72208192 | T | TG | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0209 | 1 | 286 | 0.0035 | 1 | c.574 others(4): Show |
p.Gln others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 690/4218 | 574/3753 | 192/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72208285 | AC | A | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0205 | 1 | 286 | 0.0035 | -1 | c.481 others(4): Show |
p.Val others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 597/4218 | 481/3753 | 161/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72208447 | AG | A | frameshift_variant | HIGH | NA18953.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0211 | 1 | 286 | 0.0035 | -1 | c.319 others(4): Show |
p.Leu others(5): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 435/4218 | 319/3753 | 107/1250 | chrX | TogoVar | ||
ERCC6L_chrX_72199665_72244027 | 72208610 | TG | T | frameshift_variant | HIGH | NA18953.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0211 | 1 | 286 | 0.0035 | -1 | c.156 others(4): Show |
p.Asn others(4): Show |
ERCC6L | ENSG00000186871.7 | transcript | ENST00000334463.4 | protein_coding | 2/2 | 272/4218 | 156/3753 | 52/1250 | chrX | TogoVar | ||
ERFL_chr19_41902704_41933449 | 41908239 | T | TC | frameshift_variant | HIGH | HG00438.hp1 HG00544.hp1 HG00597.hp1 others(8): Show |
a0000 | a0000c0003a0000c0005 | a0000c0003t0001a0000c0003t0003a0000c0003t0015others(1): Show | a0000c0003t0001g0033a0000c0003t0001g0088a0000c0003t0001g0110others(8): Show | 11 | 330 | 0.0333 | 1 | c.105 others(5): Show |
p.Thr others(5): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 6/6 | 1476/2012 | 1053/1065 | 351/354 | chr19 | TogoVar | ||
ERI2_chr16_20791340_20811472 | 20798933 | AGGATTTA others(31): Show |
A | frameshift_variant | HIGH | HG00738.hp1 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0059 | 1 | 412 | 0.0024 | -38 | c.829 others(45): Show |
p.Ile others(5): Show |
ERI2 | ENSG00000196678.14 | transcript | ENST00000357967.9 | protein_coding | 9/9 | 908/3502 | 829/2076 | 277/691 | chr16 | TogoVar | ||
ERICH5_chr8_98059568_98098609 | 98090011 | GAGGACCA others(6): Show |
G | frameshift_variant | HIGH | HG01192.hp1 | a0011 | a0011c0010 | a0011c0010t0002 | a0011c0010t0002g0273 | 1 | 442 | 0.0023 | -13 | c.995 others(21): Show |
p.Glu others(5): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/3 | 1097/1503 | 995/1125 | 332/374 | chr8 | TogoVar | ||
ESM1_chr5_54972867_54990593 | 54985255 | CCATTAGA others(7): Show |
C | frameshift_variant | HIGH | NA19059.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0027 | 1 | 446 | 0.0022 | -14 | c.249 others(21): Show |
p.Cys others(4): Show |
ESM1 | ENSG00000164283.13 | transcript | ENST00000381405.5 | protein_coding | 1/3 | 338/2096 | 249/555 | 83/184 | chr5 | TogoVar | ||
ESX1_chrX_104245038_104259933 | 104250389 | T | TG | frameshift_variant | HIGH | NA19072.hp1 | a0036 | a0036c0039 | a0036c0039t0003 | a0036c0039t0003g0029 | 1 | 313 | 0.0032 | 1 | c.105 others(5): Show |
p.Met others(5): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 4/4 | 1143/1495 | 1059/1221 | 353/406 | chrX | TogoVar | ||
ESX1_chrX_104245038_104259933 | 104250395 | G | GC | frameshift_variant | HIGH | NA18974.hp1 | a0016 | a0016c0037 | a0016c0037t0001 | a0016c0037t0001g0076 | 1 | 313 | 0.0032 | 1 | c.105 others(5): Show |
p.Pro others(5): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 4/4 | 1137/1495 | 1053/1221 | 351/406 | chrX | TogoVar | ||
ESX1_chrX_104245038_104259933 | 104254161 | C | CA | frameshift_variant | HIGH | NA18974.hp1 | a0016 | a0016c0037 | a0016c0037t0001 | a0016c0037t0001g0076 | 1 | 313 | 0.0032 | 1 | c.498 others(4): Show |
p.Val others(5): Show |
ESX1 | ENSG00000123576.5 | transcript | ENST00000372588.4 | protein_coding | 2/4 | 582/1495 | 498/1221 | 166/406 | chrX | TogoVar |