| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EGFL6_chrX_13564601_13638575 | 13617839 | T | TA | frameshift_variant | HIGH | NA18949.hp2 | a0008 | a0008c0017 | a0008c0017t0003 | a0008c0017t0003g0296 | 1 | 302 | 0.0033 | 1 | c.893 others(4): Show |
p.Asn others(5): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 8/12 | 1155/2403 | 894/1662 | 298/553 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| EGFL6_chrX_13564601_13638575 | 13617944 | T | TA | frameshift_variant | HIGH | NA18949.hp2 | a0008 | a0008c0017 | a0008c0017t0003 | a0008c0017t0003g0296 | 1 | 302 | 0.0033 | 1 | c.999 others(4): Show |
p.Gly others(5): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 8/12 | 1261/2403 | 1000/1662 | 334/553 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| EGFL6_chrX_13564601_13638575 | 13617989 | GA | G | frameshift_variant | HIGH | NA18949.hp2 | a0008 | a0008c0017 | a0008c0017t0003 | a0008c0017t0003g0296 | 1 | 302 | 0.0033 | -1 | c.104 others(5): Show |
p.Arg others(5): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 8/12 | 1303/2403 | 1042/1662 | 348/553 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| EGF_chr4_109907883_110018766 | 110011233 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00609.hp2 HG00621.hp1 others(44): Show |
a0003a0013a0021 | a0003c0003a0013c0015a0021c0031 | a0003c0003t0005a0003c0003t0008a0003c0003t0018others(4): Show | a0003c0003t0005g0002a0003c0003t0005g0003a0003c0003t0005g0014others(43): Show | 47 | 388 | 0.1211 | 1 | c.340 others(5): Show |
p.Gln others(6): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 24/24 | 3860/6388 | 3407/3624 | 1136/1207 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
| EHBP1L1_chr11_65571053_65597650 | 65582454 | CCCAGAGA others(4): Show |
C | frameshift_variant | HIGH | NA18978.hp2 | a0015 | a0015c0024 | a0015c0024t0001 | a0015c0024t0001g0121 | 1 | 412 | 0.0024 | -11 | c.178 others(20): Show |
p.Pro others(5): Show |
EHBP1L1 | ENSG00000173442.13 | transcript | ENST00000309295.9 | protein_coding | 9/19 | 2033/5170 | 1783/4572 | 595/1523 | chr11 | TogoVar | ||
| EIF1AY_chrY_20570776_20598154 | 20582660 | GT | G | frameshift_variant | HIGH | NA18940.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 133 | 0.0075 | -1 | c.173 others(4): Show |
p.Leu others(4): Show |
EIF1AY | ENSG00000198692.10 | transcript | ENST00000361365.7 | protein_coding | 3/7 | 269/1339 | 173/435 | 58/144 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
| EIF2AK4_chr15_39929115_40040591 | 39976763 | T | TC | frameshift_variant | HIGH | HG02145.hp1 HG02738.hp2 HG03098.hp1 others(5): Show |
a0006a0011a0013 | a0006c0012a0006c0032a0011c0017others(1): Show | a0006c0012t0001a0006c0012t0002a0006c0012t0003others(4): Show | a0006c0012t0001g0268a0006c0012t0002g0151a0006c0012t0002g0177others(5): Show | 8 | 368 | 0.0217 | 1 | c.217 others(5): Show |
p.Ala others(5): Show |
EIF2AK4 | ENSG00000128829.12 | transcript | ENST00000263791.10 | protein_coding | 12/39 | 2254/5538 | 2173/4950 | 725/1649 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| EIF2S3_chrX_24049956_24083810 | 24055663 | G | GC | frameshift_variant | HIGH | HG02015.hp1 | a0003 | a0003c0008 | a0003c0008t0019 | a0003c0008t0019g0026 | 1 | 294 | 0.0034 | 1 | c.120 others(4): Show |
p.Thr others(4): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 2/12 | 134/3457 | 121/1419 | 41/472 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| EIF2S3_chrX_24049956_24083810 | 24057686 | TG | T | frameshift_variant | HIGH | NA18974.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0203 | 1 | 294 | 0.0034 | -1 | c.318 others(4): Show |
p.Ser others(5): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 4/12 | 331/3457 | 318/1419 | 106/472 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| EIF2S3_chrX_24049956_24083810 | 24071680 | A | AG | frameshift_variant | HIGH | NA18978.hp1 | a0005 | a0005c0006 | a0005c0006t0025 | a0005c0006t0025g0060 | 1 | 294 | 0.0034 | 1 | c.113 others(5): Show |
p.Arg others(5): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 10/12 | 1150/3457 | 1137/1419 | 379/472 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| EIF2S3_chrX_24049956_24083810 | 24073250 | GA | G | frameshift_variant | HIGH | NA18978.hp1 | a0005 | a0005c0006 | a0005c0006t0025 | a0005c0006t0025g0060 | 1 | 294 | 0.0034 | -1 | c.134 others(5): Show |
p.Lys others(5): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 11/12 | 1360/3457 | 1347/1419 | 449/472 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ELANE_chr19_847303_861243 | 852914 | G | GGTGGGGG others(4): Show |
frameshift_variant | HIGH | HG00735.hp1 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0005 | 1 | 403 | 0.0025 | 11 | c.106 others(18): Show |
p.Ala others(4): Show |
ELANE | ENSG00000197561.7 | transcript | ENST00000263621.2 | protein_coding | 2/5 | 133/909 | 107/804 | 36/267 | chr19 | TogoVar | ||
| ELF4_chrX_130058955_130115497 | 130066757 | A | AG | frameshift_variant | HIGH | NA18997.hp2 | a0005 | a0005c0005 | a0005c0005t0046 | a0005c0005t0046g0196 | 1 | 274 | 0.0037 | 1 | c.195 others(5): Show |
p.Thr others(5): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 9/9 | 2337/5140 | 1955/1992 | 652/663 | chrX | TogoVar | ||
| ELF4_chrX_130058955_130115497 | 130066766 | TG | T | frameshift_variant | HIGH | NA18997.hp2 | a0005 | a0005c0005 | a0005c0005t0046 | a0005c0005t0046g0196 | 1 | 274 | 0.0037 | -1 | c.194 others(5): Show |
p.Pro others(5): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 9/9 | 2328/5140 | 1946/1992 | 649/663 | chrX | TogoVar | ||
| ELF4_chrX_130058955_130115497 | 130066792 | A | AT | frameshift_variant | HIGH | NA18997.hp2 | a0005 | a0005c0005 | a0005c0005t0046 | a0005c0005t0046g0196 | 1 | 274 | 0.0037 | 1 | c.192 others(5): Show |
p.Ser others(5): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 9/9 | 2302/5140 | 1920/1992 | 640/663 | chrX | TogoVar | ||
| ELF4_chrX_130058955_130115497 | 130066888 | G | GC | frameshift_variant | HIGH | NA18997.hp2 | a0005 | a0005c0005 | a0005c0005t0046 | a0005c0005t0046g0196 | 1 | 274 | 0.0037 | 1 | c.182 others(5): Show |
p.Leu others(5): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 9/9 | 2206/5140 | 1824/1992 | 608/663 | chrX | TogoVar | ||
| ELF4_chrX_130058955_130115497 | 130066952 | A | AC | frameshift_variant | HIGH | NA18997.hp2 | a0005 | a0005c0005 | a0005c0005t0046 | a0005c0005t0046g0196 | 1 | 274 | 0.0037 | 1 | c.176 others(5): Show |
p.Ser others(5): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 9/9 | 2142/5140 | 1760/1992 | 587/663 | chrX | TogoVar | ||
| ELF4_chrX_130058955_130115497 | 130066959 | G | GA | frameshift_variant | HIGH | NA18997.hp2 | a0005 | a0005c0005 | a0005c0005t0046 | a0005c0005t0046g0196 | 1 | 274 | 0.0037 | 1 | c.175 others(5): Show |
p.Ser others(5): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 9/9 | 2135/5140 | 1753/1992 | 585/663 | chrX | TogoVar | ||
| ELF4_chrX_130058955_130115497 | 130067179 | GC | G | frameshift_variant | HIGH | NA18997.hp2 | a0005 | a0005c0005 | a0005c0005t0046 | a0005c0005t0046g0196 | 1 | 274 | 0.0037 | -1 | c.153 others(5): Show |
p.Ser others(5): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 9/9 | 1915/5140 | 1533/1992 | 511/663 | chrX | TogoVar | ||
| ELF4_chrX_130058955_130115497 | 130067250 | T | TG | frameshift_variant | HIGH | NA18997.hp2 | a0005 | a0005c0005 | a0005c0005t0046 | a0005c0005t0046g0196 | 1 | 274 | 0.0037 | 1 | c.146 others(5): Show |
p.Gln others(5): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 9/9 | 1844/5140 | 1462/1992 | 488/663 | chrX | TogoVar | ||
| ELF4_chrX_130058955_130115497 | 130067452 | T | TC | frameshift_variant | HIGH | NA18997.hp2 | a0005 | a0005c0005 | a0005c0005t0046 | a0005c0005t0046g0196 | 1 | 274 | 0.0037 | 1 | c.126 others(5): Show |
p.Thr others(5): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 9/9 | 1642/5140 | 1260/1992 | 420/663 | chrX | TogoVar | ||
| ELF4_chrX_130058955_130115497 | 130067476 | A | AC | frameshift_variant | HIGH | NA18997.hp2 | a0005 | a0005c0005 | a0005c0005t0046 | a0005c0005t0046g0196 | 1 | 274 | 0.0037 | 1 | c.123 others(5): Show |
p.Ser others(5): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 9/9 | 1618/5140 | 1236/1992 | 412/663 | chrX | TogoVar | ||
| ELF4_chrX_130058955_130115497 | 130072361 | TGG | T | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0003 | a0007c0003t0048 | a0007c0003t0048g0272 | 1 | 274 | 0.0037 | -2 | c.395 others(9): Show |
p.Pro others(5): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 5/9 | 778/5140 | 395/1992 | 132/663 | chrX | TogoVar | ||
| ELF4_chrX_130058955_130115497 | 130074588 | CA | C | frameshift_variant | HIGH | NA18968.hp2 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0057 | 1 | 274 | 0.0037 | -1 | c.239 others(4): Show |
p.Leu others(4): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 3/9 | 621/5140 | 239/1992 | 80/663 | chrX | TogoVar | ||
| ELF4_chrX_130058955_130115497 | 130074620 | T | TA | frameshift_variant | HIGH | NA18968.hp2 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0057 | 1 | 274 | 0.0037 | 1 | c.207 others(8): Show |
p.Thr others(4): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 3/9 | 589/5140 | 207/1992 | 69/663 | chrX | TogoVar | ||
| ELF4_chrX_130058955_130115497 | 130074699 | AG | A | frameshift_variant | HIGH | NA18968.hp2 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0057 | 1 | 274 | 0.0037 | -1 | c.128 others(4): Show |
p.Pro others(4): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 3/9 | 510/5140 | 128/1992 | 43/663 | chrX | TogoVar | ||
| ELK1_chrX_47630521_47655563 | 47641250 | C | CT | frameshift_variant | HIGH | NA19075.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0108 | 1 | 276 | 0.0036 | 1 | c.191 others(8): Show |
p.Arg others(4): Show |
ELK1 | ENSG00000126767.18 | transcript | ENST00000376983.8 | protein_coding | 3/7 | 472/2876 | 191/1287 | 64/428 | chrX | TogoVar | ||
| ELK1_chrX_47630521_47655563 | 47641254 | G | GC | frameshift_variant | HIGH | NA19075.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0108 | 1 | 276 | 0.0036 | 1 | c.187 others(4): Show |
p.Ala others(4): Show |
ELK1 | ENSG00000126767.18 | transcript | ENST00000376983.8 | protein_coding | 3/7 | 468/2876 | 187/1287 | 63/428 | chrX | TogoVar | ||
| ELK1_chrX_47630521_47655563 | 47641317 | A | AC | frameshift_variant | HIGH | NA19075.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0108 | 1 | 276 | 0.0036 | 1 | c.124 others(4): Show |
p.Val others(4): Show |
ELK1 | ENSG00000126767.18 | transcript | ENST00000376983.8 | protein_coding | 3/7 | 405/2876 | 124/1287 | 42/428 | chrX | TogoVar | ||
| ELOA2_chr18_47027527_47040621 | 47033546 | GTCTT | G | frameshift_variant | HIGH | NA18945.hp2 NA18954.hp1 NA18978.hp2 others(3): Show |
a0007 | a0007c0006 | a0007c0006t0004 | a0007c0006t0004g0000 | 6 | 448 | 0.0134 | -4 | c.171 others(13): Show |
p.Lys others(5): Show |
ELOA2 | ENSG00000206181.7 | transcript | ENST00000332567.6 | protein_coding | 1/1 | 2075/3095 | 1715/2262 | 572/753 | chr18 | TogoVar | ||
| ELP2_chr18_36124899_36185557 | 36156512 | TGAAATGT others(3): Show |
T | frameshift_variant | HIGH | NA19055.hp2 | a0010 | a0010c0017 | a0010c0017t0003 | a0010c0017t0003g0337 | 1 | 378 | 0.0027 | -10 | c.132 others(19): Show |
p.Lys others(5): Show |
ELP2 | ENSG00000134759.14 | transcript | ENST00000358232.11 | protein_coding | 13/22 | 1359/8432 | 1324/2481 | 442/826 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |
| EMD_chrX_154374295_154386523 | 154381077 | TG | T | frameshift_variant | HIGH | NA19072.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0010 | 1 | 284 | 0.0035 | -1 | c.648 others(4): Show |
p.Leu others(5): Show |
EMD | ENSG00000102119.12 | transcript | ENST00000369842.9 | protein_coding | 6/6 | 838/1281 | 648/765 | 216/254 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| EMILIN2_chr18_2842006_2921003 | 2906766 | TCCCCGAC others(21): Show |
T | frameshift_variant others(3): Show |
HIGH | HG01123.hp1 HG03669.hp1 NA18945.hp2 others(4): Show |
a0004 | a0004c0011a0004c0039a0004c0043 | a0004c0011t0002a0004c0011t0003a0004c0039t0063others(1): Show | a0004c0011t0002g0184a0004c0011t0003g0148a0004c0011t0003g0287others(4): Show | 7 | 452 | 0.0155 | -28 | c.236 others(40): Show |
p.Lys others(5): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 5/8 | 2360/3162 | 787/1053 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||
| EMILIN3_chr20_41354962_41371818 | 41362266 | G | GCACCCCG others(60): Show |
frameshift_variant | HIGH | HG02698.hp2 | a0017 | a0017c0024 | a0017c0024t0013 | a0017c0024t0013g0067 | 1 | 430 | 0.0023 | 67 | c.130 others(76): Show |
p.Leu others(5): Show |
EMILIN3 | ENSG00000183798.5 | transcript | ENST00000332312.4 | protein_coding | 4/4 | 1486/3791 | 1302/2301 | 434/766 | chr20 | TogoVar | ||
| EML2_chr19_45604400_45644397 | 45634457 | CCACGGTA others(20): Show |
C | frameshift_variant others(3): Show |
HIGH | NA19078.hp2 | a0010 | a0010c0023 | a0010c0023t0001 | a0010c0023t0001g0037 | 1 | 382 | 0.0026 | -27 | c.180 others(37): Show |
p.Tyr others(4): Show |
EML2 | ENSG00000125746.18 | transcript | ENST00000245925.8 | protein_coding | 4/19 | 214/2234 | 180/1950 | 60/649 | chr19 | TogoVar | ||
| EML3_chr11_62597218_62617775 | 62602887 | C | CGCCTAGC others(16): Show |
frameshift_variant others(2): Show |
HIGH | NA19067.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0053 | 1 | 312 | 0.0032 | 23 | c.235 others(35): Show |
p.Val others(5): Show |
EML3 | ENSG00000149499.12 | transcript | ENST00000394773.7 | protein_coding | 21/22 | 2676/3266 | 2358/2691 | 786/896 | chr11 | TogoVar | ||
| ENAH_chr1_225481829_225658123 | 225514620 | TCCGGCAA others(18): Show |
T | frameshift_variant | HIGH | HG01243.hp1 | a0006 | a0006c0009 | a0006c0009t0004 | a0006c0009t0004g0283 | 1 | 308 | 0.0033 | -25 | c.116 others(34): Show |
p.Thr others(5): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 7/14 | 1626/13092 | 1169/1713 | 390/570 | chr1 | TogoVar | ||
| ENOX2_chrX_130617325_130908209 | 130670017 | TG | T | frameshift_variant | HIGH | NA19072.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0088 | 1 | 154 | 0.0065 | -1 | c.641 others(4): Show |
p.Pro others(5): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 7/15 | 1032/5126 | 641/1746 | 214/581 | chrX | TogoVar | ||
| ENOX2_chrX_130617325_130908209 | 130670088 | T | TA | frameshift_variant | HIGH | NA19072.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0088 | 1 | 154 | 0.0065 | 1 | c.570 others(4): Show |
p.Met others(5): Show |
ENOX2 | ENSG00000165675.19 | transcript | ENST00000394363.6 | protein_coding | 7/15 | 961/5126 | 570/1746 | 190/581 | chrX | TogoVar | ||
| ENTPD3_chr3_40382184_40433744 | 40397267 | CTGAACAG others(3724): Show |
C | frameshift_variant others(3): Show |
HIGH | HG03516.hp2 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0230 | 1 | 374 | 0.0027 | -3731 | c.169 others(12): Show |
p.Tyr others(4): Show |
ENTPD3 | ENSG00000168032.10 | transcript | ENST00000301825.8 | protein_coding | 4/11 | 169/1590 | 57/529 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
| ENTR1_chr9_136396922_136415614 | 136410362 | C | CG | frameshift_variant | HIGH | HG00558.hp1 HG01496.hp2 HG01952.hp1 others(13): Show |
a0003 | a0003c0005a0003c0007a0003c0008others(3): Show | a0003c0005t0001a0003c0005t0016a0003c0007t0002others(4): Show | a0003c0005t0001g0081a0003c0005t0001g0082a0003c0005t0001g0083others(12): Show | 16 | 412 | 0.0388 | 1 | c.35d others(3): Show |
p.Leu others(4): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 1/10 | 252/2391 | 35/1308 | 12/435 | chr9 | TogoVar | ||
| EOLA1_chrX_149536012_149553331 | 149545714 | TC | T | frameshift_variant | HIGH | HG01516.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0047 | 1 | 315 | 0.0032 | -1 | c.88d others(3): Show |
p.Leu others(4): Show |
EOLA1 | ENSG00000197620.11 | transcript | ENST00000393985.8 | protein_coding | 4/5 | 649/2407 | 88/477 | 30/158 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| EPHA8_chr1_22558489_22608595 | 22589036 | GCACCCGC others(13): Show |
G | frameshift_variant | HIGH | NA21309.hp2 | a0010 | a0010c0024 | a0010c0024t0046 | a0010c0024t0046g0175 | 1 | 342 | 0.0029 | -20 | c.114 others(29): Show |
p.Thr others(5): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 5/17 | 1293/5019 | 1146/3018 | 382/1005 | chr1 | TogoVar | ||
| EPHA8_chr1_22558489_22608595 | 22601406 | C | CG | frameshift_variant | HIGH | HG00735.hp1 HG01099.hp2 HG02071.hp1 others(5): Show |
a0000 | a0000c0007a0000c0041a0000c0042 | a0000c0007t0001a0000c0007t0003a0000c0007t0010others(3): Show | a0000c0007t0001g0005a0000c0007t0001g0218a0000c0007t0001g0269others(5): Show | 8 | 342 | 0.0234 | 1 | c.283 others(5): Show |
p.Tyr others(5): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 16/17 | 2986/5019 | 2839/3018 | 947/1005 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| EPM2A_chr6_145620305_145740520 | 145735359 | GCCGCGGT others(25): Show |
G | frameshift_variant | HIGH | HG01515.hp2 | a0009 | a0009c0007 | a0009c0007t0015 | a0009c0007t0015g0048 | 1 | 320 | 0.0031 | -32 | c.108 others(39): Show |
p.Ala others(4): Show |
EPM2A | ENSG00000112425.16 | transcript | ENST00000367519.9 | protein_coding | 1/4 | 161/3129 | 108/996 | 36/331 | chr6 | TogoVar | ||
| EPPK1_chr8_143852324_143883467 | 143859419 | GCCCGGTA others(1596): Show |
G | frameshift_variant | HIGH | NA18942.hp2 | a0173 | a0173c0225 | a0173c0225t0005 | a0173c0225t0005g0107 | 1 | 424 | 0.0024 | -1603 | c.122 others(11): Show |
p.Ala others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13909/16005 | 12232/15267 | 4078/5088 | chr8 | TogoVar | ||
| EPPK1_chr8_143852324_143883467 | 143860089 | GCACGCCC others(3): Show |
G | frameshift_variant | HIGH | HG01255.hp1 | a0275 | a0275c0120 | a0275c0120t0002 | a0275c0120t0002g0174 | 1 | 424 | 0.0024 | -10 | c.131 others(21): Show |
p.Trp others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13239/16005 | 13155/15267 | 4385/5088 | chr8 | TogoVar | ||
| EPPK1_chr8_143852324_143883467 | 143861360 | C | CGGTAGGC others(1587): Show |
frameshift_variant | HIGH | HG03654.hp2 | a0198 | a0198c0248 | a0198c0248t0001 | a0198c0248t0001g0069 | 1 | 424 | 0.0024 | 1594 | c.118 others(1605): Show |
p.Arg others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11968/16005 | 11893/15267 | 3965/5088 | chr8 | TogoVar | ||
| EPPK1_chr8_143852324_143883467 | 143861843 | C | CCCTGGGC others(9552): Show |
frameshift_variant others(1): Show |
HIGH | NA19043.hp2 | a0025 | a0025c0162 | a0025c0162t0001 | a0025c0162t0001g0033 | 1 | 424 | 0.0024 | 9559 | c.114 others(9570): Show |
p.Gly others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11485/16005 | 11410/15267 | 3804/5088 | chr8 | TogoVar | ||
| EPPK1_chr8_143852324_143883467 | 143862160 | GGCGGCGG others(3190): Show |
G | frameshift_variant | HIGH | HG03654.hp1 | a0093 | a0093c0176 | a0093c0176t0007 | a0093c0176t0007g0106 | 1 | 424 | 0.0024 | -3197 | c.789 others(10): Show |
p.Ala others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11168/16005 | 7897/15267 | 2633/5088 | chr8 | TogoVar |