| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AGAP9_chr10_47496854_47528638 | 47502198 | G | GTACCAGA | frameshift_variant | HIGH | HG00735.hp2 HG01361.hp2 HG01884.hp1 others(11): Show |
a0003a0006a0008others(1): Show | a0003c0003a0006c0008a0008c0009others(1): Show | a0003c0003t0001a0006c0008t0006a0008c0009t0001others(1): Show | a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0091 others(7): Show |
14 | 204 | 0.0686 | 7 | c.193 others(16): Show |
p.Thr others(5): Show |
AGAP9 | ENSG00000204172.12 | transcript | ENST00000452145.6 | protein_coding | 8/8 | 2042/2387 | 1930/1977 | 644/658 | chr10 | TogoVar | |||
| AGAP9_chr10_47496854_47528638 | 47502280 | CG | C | frameshift_variant | HIGH | HG00735.hp2 HG01361.hp2 HG02698.hp1 others(8): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0091 others(4): Show |
11 | 204 | 0.0539 | -1 | c.184 others(5): Show |
p.Asn others(5): Show |
AGAP9 | ENSG00000204172.12 | transcript | ENST00000452145.6 | protein_coding | 8/8 | 1960/2387 | 1848/1977 | 616/658 | chr10 | TogoVar | |||
| AGAP9_chr10_47496854_47528638 | 47523471 | T | TG | frameshift_variant | HIGH | HG00735.hp2 HG01361.hp2 HG02698.hp1 others(9): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0001 | a0002c0002t0002g0036 a0003c0003t0001g0015 a0003c0003t0001g0016 others(5): Show |
12 | 204 | 0.0588 | 1 | c.55d others(3): Show |
p.Gln others(4): Show |
AGAP9 | ENSG00000204172.12 | transcript | ENST00000452145.6 | protein_coding | 1/8 | 167/2387 | 55/1977 | 19/658 | chr10 | TogoVar | |||
| AHNAK2_chr14_104932253_104983374 | 104948543 | T | TCCCCCTC others(489): Show |
frameshift_variant others(1): Show |
HIGH | HG02615.hp2 | a0072 | a0072c0044 | a0072c0044t0003 | a0072c0044t0003g0109 | 1 | 354 | 0.0028 | 496 | c.690 others(505): Show |
p.Asp others(6): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7044/18335 | 6907/17388 | 2303/5795 | chr14 | TogoVar | |||
| AICDA_chr12_8597170_8617859 | 8605412 | C | CG | frameshift_variant | HIGH | HG01261.hp1 HG01361.hp2 HG01934.hp2 others(24): Show |
a0002 | a0002c0003a0002c0004a0002c0010 | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(5): Show | a0002c0003t0001g0016 a0002c0003t0001g0078 a0002c0003t0001g0082 others(20): Show |
27 | 454 | 0.0595 | 1 | c.229 others(4): Show |
p.Arg others(4): Show |
AICDA | ENSG00000111732.12 | transcript | ENST00000229335.11 | protein_coding | 3/5 | 321/2803 | 229/597 | 77/198 | chr12 | TogoVar | |||
| AIM2_chr1_159057484_159081766 | 159068603 | GCTTTGCG others(30): Show |
G | frameshift_variant | HIGH | HG02129.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0157 | 1 | 392 | 0.0026 | -37 | c.324 others(44): Show |
p.Ala others(5): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 3/6 | 514/1394 | 324/1032 | 108/343 | chr1 | TogoVar | |||
| AIMP2_chr7_6004272_6028834 | 6023464 | G | GAGGGAAG others(12): Show |
frameshift_variant others(1): Show |
HIGH | HG01517.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0076 | 1 | 440 | 0.0023 | 19 | c.739 others(26): Show |
p.Ala others(5): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 4/4 | 850/1198 | 758/963 | 253/320 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| AIRE_chr21_44280876_44303648 | 44287530 | GGCCAAGC others(7): Show |
G | frameshift_variant | HIGH | NA18991.hp2 | a0009 | a0009c0035 | a0009c0035t0001 | a0009c0035t0001g0191 | 1 | 424 | 0.0024 | -14 | c.479 others(21): Show |
p.Ala others(5): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 4/14 | 610/2690 | 479/1638 | 160/545 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
| AIRE_chr21_44280876_44303648 | 44293804 | GCGCGTTG others(40): Show |
G | frameshift_variant | HIGH | HG01256.hp1 | a0005 | a0005c0040 | a0005c0040t0001 | a0005c0040t0001g0157 | 1 | 424 | 0.0024 | -47 | c.129 others(56): Show |
p.Arg others(5): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 11/14 | 1427/2690 | 1296/1638 | 432/545 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
| AKR1B10_chr7_134522567_134546412 | 134537643 | C | CA | frameshift_variant | HIGH | HG01261.hp2 HG01978.hp1 HG02055.hp2 others(14): Show |
a0004a0006 | a0004c0005a0004c0006a0004c0015others(1): Show | a0004c0005t0001a0004c0006t0001a0004c0006t0002others(4): Show | a0004c0005t0001g0004 a0004c0005t0001g0021 a0004c0005t0001g0023 others(12): Show |
17 | 446 | 0.0381 | 1 | c.730 others(4): Show |
p.Thr others(5): Show |
AKR1B10 | ENSG00000198074.10 | transcript | ENST00000359579.5 | protein_coding | 7/10 | 1076/1619 | 731/951 | 244/316 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| AKR1C8_chr10_5148920_5190150 | 5159943 | GTGATTGA others(229): Show |
G | frameshift_variant others(3): Show |
HIGH | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(40): Show |
a0003 | a0003c0004a0003c0006 | a0003c0004t0002a0003c0006t0002 | a0003c0004t0002g0005 a0003c0004t0002g0009 a0003c0004t0002g0010 others(27): Show |
43 | 406 | 0.1059 | -236 | c.457 others(11): Show |
p.Ala others(5): Show |
AKR1C8 | ENSG00000264006.9 | transcript | ENST00000648824.2 | protein_coding | 5/9 | 564/1247 | 457/981 | 153/326 | chr10 | TogoVar | |||
| AKR7A2_chr1_19298965_19317144 | 19312096 | G | GAGACTAC others(12): Show |
frameshift_variant | HIGH | HG01106.hp2 HG02615.hp2 |
a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0063 | 2 | 458 | 0.0044 | 19 | c.10_ others(24): Show |
p.Ser others(4): Show |
AKR7A2 | ENSG00000053371.13 | transcript | ENST00000235835.8 | protein_coding | 1/7 | 48/1360 | 28/1080 | 10/359 | chr1 | TogoVar | |||
| ALG1L2_chr3_130076831_130103390 | 130096091 | GC | G | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(48): Show |
a0002a0003a0004 | a0002c0002a0002c0004a0002c0007others(6): Show | a0002c0002t0001a0002c0004t0001a0002c0004t0002others(8): Show | a0002c0002t0001g0004 a0002c0002t0001g0019 a0002c0002t0001g0056 others(27): Show |
51 | 260 | 0.1962 | -1 | c.469 others(4): Show |
p.Leu others(5): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 6/8 | 655/969 | 469/648 | 157/215 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
| ALG1_chr16_5066843_5092379 | 5078734 | AGGCTTTT others(28): Show |
A | frameshift_variant others(3): Show |
HIGH | NA19063.hp1 | a0009 | a0009c0016 | a0009c0016t0003 | a0009c0016t0003g0096 | 1 | 442 | 0.0023 | -35 | c.741 others(45): Show |
p.Ser others(5): Show |
ALG1 | ENSG00000033011.14 | transcript | ENST00000262374.10 | protein_coding | 7/13 | 741/1395 | 247/464 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||
| ALOX15B_chr17_8034059_8054134 | 8047773 | T | TGCCACCC others(31): Show |
frameshift_variant | HIGH | NA18947.hp1 | a0026 | a0026c0040 | a0026c0040t0009 | a0026c0040t0009g0077 | 1 | 468 | 0.0021 | 38 | c.171 others(47): Show |
p.Leu others(5): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 13/14 | 1848/2697 | 1751/2031 | 584/676 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
| ALOX15_chr17_4625919_4646678 | 4639538 | ACCAGGCG others(4): Show |
A | frameshift_variant | HIGH | NA19066.hp2 | a0014 | a0014c0012 | a0014c0012t0001 | a0014c0012t0001g0173 | 1 | 469 | 0.0021 | -11 | c.218 others(18): Show |
p.Asp others(4): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 2/14 | 255/2697 | 218/1989 | 73/662 | chr17 | TogoVar | |||
| ALOX5_chr10_45369216_45451117 | 45443652 | ATCCGGGC others(79): Show |
A | frameshift_variant others(3): Show |
HIGH | NA18960.hp1 | a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0226 | 1 | 344 | 0.0029 | -86 | c.157 others(98): Show |
p.Phe others(5): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 12/14 | 1574/2025 | 525/674 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||
| ALPP_chr2_232373751_232387889 | 232380430 | A | ACGTGTAT others(43): Show |
frameshift_variant others(1): Show |
HIGH | NA18522.hp2 | a0019 | a0019c0033 | a0019c0033t0001 | a0019c0033t0001g0026 | 1 | 408 | 0.0025 | 50 | c.803 others(57): Show |
p.Trp others(5): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 7/11 | 856/2754 | 804/1608 | 268/535 | chr2 | TogoVar | |||
| AMACR_chr5_33981165_34013050 | 34004636 | TGCCCAGT others(36): Show |
T | frameshift_variant | HIGH | HG03098.hp2 | a0017 | a0017c0019 | a0017c0019t0004 | a0017c0019t0004g0133 | 1 | 436 | 0.0023 | -43 | c.447 others(50): Show |
p.Ala others(5): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 3/5 | 520/4108 | 447/1149 | 149/382 | chr5 | TogoVar | |||
| AMBN_chr4_70587256_70612288 | 70606275 | GCTATGGG others(49): Show |
G | frameshift_variant | HIGH | NA18970.hp1 | a0020 | a0020c0023 | a0020c0023t0001 | a0020c0023t0001g0059 | 1 | 478 | 0.0021 | -56 | c.891 others(63): Show |
p.Met others(5): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 13/13 | 994/2005 | 891/1344 | 297/447 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
| AMBN_chr4_70587256_70612288 | 70606516 | G | GCGTCACC others(12): Show |
frameshift_variant others(1): Show |
HIGH | NA18959.hp2 | a0018 | a0018c0019 | a0018c0019t0001 | a0018c0019t0001g0009 | 1 | 478 | 0.0021 | 19 | c.113 others(28): Show |
p.Asp others(5): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 13/13 | 1253/2005 | 1150/1344 | 384/447 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
| AMBN_chr4_70587256_70612288 | 70606698 | ATGCATGA others(49): Show |
A | frameshift_variant others(1): Show |
HIGH | NA18946.hp1 | a0017 | a0017c0021 | a0017c0021t0009 | a0017c0021t0009g0184 | 1 | 478 | 0.0021 | -56 | c.131 others(64): Show |
p.Met others(5): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 13/13 | 1416/2005 | 1313/1344 | 438/447 | chr4 | TogoVar | |||
| AMER1_chrX_64180117_64210708 | 64190549 | TGGACCAA others(3): Show |
T | frameshift_variant | HIGH | NA18994.hp1 | a0008 | a0008c0009 | a0008c0009t0030 | a0008c0009t0030g0072 | 1 | 241 | 0.0041 | -10 | c.272 others(19): Show |
p.His others(5): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 2974/8407 | 2728/3408 | 910/1135 | chrX | TogoVar | |||
| AMER2_chr13_25156679_25177288 | 25171521 | C | CCCGGCCT others(7): Show |
frameshift_variant | HIGH | NA20129.hp2 | a0009 | a0009c0008 | a0009c0008t0015 | a0009c0008t0015g0000 | 1 | 414 | 0.0024 | 14 | c.85_ others(19): Show |
p.Ala others(4): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 1/1 | 767/10610 | 98/2016 | 33/671 | chr13 | TogoVar | |||
| ANK1_chr8_41648225_41802622 | 41717010 | G | GTGCCCGG others(13): Show |
frameshift_variant | HIGH | NA19076.hp1 | a0016 | a0016c0053 | a0016c0053t0002 | a0016c0053t0002g0251 | 1 | 276 | 0.0036 | 20 | c.132 others(29): Show |
p.His others(5): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 13/43 | 1430/8292 | 1346/5643 | 449/1880 | chr8 | TogoVar | |||
| ANKDD1B_chr5_75606453_75676846 | 75611679 | GGGGCTGC others(6): Show |
G | frameshift_variant | HIGH | HG02615.hp2 HG02723.hp2 HG03195.hp2 |
a0013 | a0013c0016a0013c0024 | a0013c0016t0001a0013c0024t0003 | a0013c0016t0001g0032 a0013c0016t0001g0034 a0013c0024t0003g0313 |
3 | 370 | 0.0081 | -13 | c.56_ others(18): Show |
p.Leu others(4): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 1/14 | 238/2575 | 56/1587 | 19/528 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
| ANKDD1B_chr5_75606453_75676846 | 75635851 | CCCAGT | C | frameshift_variant | HIGH | HG00741.hp1 HG01106.hp2 HG01167.hp2 others(12): Show |
a0006a0014a0022 | a0006c0009a0006c0015a0006c0034others(3): Show | a0006c0009t0007a0006c0015t0001a0006c0034t0003others(3): Show | a0006c0009t0007g0023 a0006c0009t0007g0139 a0006c0009t0007g0205 others(10): Show |
15 | 370 | 0.0405 | -5 | c.768 others(12): Show |
p.Gln others(5): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 7/14 | 950/2575 | 768/1587 | 256/528 | chr5 | TogoVar | |||
| ANKRD11_chr16_89262630_89495561 | 89279581 | C | CCGTGGGT others(13): Show |
frameshift_variant | HIGH | NA18953.hp1 | a0028 | a0028c0050 | a0028c0050t0001 | a0028c0050t0001g0066 | 1 | 308 | 0.0032 | 20 | c.694 others(29): Show |
p.Ala others(6): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 9/13 | 7421/9301 | 6960/7992 | 2320/2663 | chr16 | TogoVar | |||
| ANKRD24_chr19_4177689_4229814 | 4217491 | C | CG | frameshift_variant | HIGH | HG00597.hp2 HG00639.hp1 HG01243.hp1 others(15): Show |
a0007a0013a0016others(5): Show | a0007c0011a0007c0041a0007c0042others(7): Show | a0007c0011t0001a0007c0011t0002a0007c0041t0001others(10): Show | a0007c0011t0001g0017 a0007c0011t0001g0037 a0007c0011t0001g0049 others(15): Show |
18 | 354 | 0.0508 | 1 | c.233 others(5): Show |
p.Gly others(5): Show |
ANKRD24 | ENSG00000089847.13 | transcript | ENST00000318934.9 | protein_coding | 18/22 | 2425/3838 | 2337/3441 | 779/1146 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
| ANKRD30A_chr10_37120598_37237567 | 37167724 | C | CAGTATAT others(23571): Show |
frameshift_variant others(1): Show |
HIGH | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 232 | 0.0043 | 23578 | c.221 others(23587): Show |
p.Thr others(5): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 21/36 | 2405/4664 | 2215/4194 | 739/1397 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
| ANKRD30A_chr10_37120598_37237567 | 37167724 | C | CAGTATAT others(23577): Show |
frameshift_variant others(1): Show |
HIGH | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 232 | 0.0043 | 23584 | c.221 others(23593): Show |
p.Thr others(5): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 21/36 | 2405/4664 | 2215/4194 | 739/1397 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
| ANKRD30A_chr10_37120598_37237567 | 37167724 | C | CAGTATAT others(23577): Show |
frameshift_variant others(1): Show |
HIGH | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 232 | 0.0043 | 23584 | c.221 others(23593): Show |
p.Thr others(5): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 21/36 | 2405/4664 | 2215/4194 | 739/1397 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
| ANKRD30A_chr10_37120598_37237567 | 37167724 | C | CAGTATAT others(23578): Show |
frameshift_variant others(1): Show |
HIGH | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 232 | 0.0043 | 23585 | c.221 others(23594): Show |
p.Thr others(5): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 21/36 | 2405/4664 | 2215/4194 | 739/1397 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
| ANKRD30A_chr10_37120598_37237567 | 37231448 | GCAATCTT others(37): Show |
G | frameshift_variant others(2): Show |
HIGH | HG02280.hp1 | a0009 | a0009c0028 | a0009c0028t0009 | a0009c0028t0009g0128 | 1 | 284 | 0.0035 | -44 | c.418 others(55): Show |
p.Asn others(6): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 35/36 | 4186/4194 | 1396/1397 | chr10 | TogoVar | ||||
| ANKRD30B_chr18_14743172_14859667 | 14814633 | G | GCTCTCTT others(10879): Show |
frameshift_variant others(1): Show |
HIGH | NA19082.hp2 | a0042 | a0042c0058 | a0042c0058t0002 | a0042c0058t0002g0046 | 1 | 22 | 0.0455 | 10886 | c.258 others(10895): Show |
p.Gly others(5): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 30/44 | 2830/5335 | 2582/4578 | 861/1525 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||
| ANKRD36_chr2_97108153_97269521 | 97211731 | ATC | A | frameshift_variant | HIGH | HG00423.hp1 HG02602.hp2 NA18945.hp1 others(2): Show |
a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0014 a0011c0011t0001g0045 a0011c0011t0001g0046 others(2): Show |
5 | 210 | 0.0238 | -2 | c.346 others(11): Show |
p.Ser others(6): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 58/76 | 4048/6534 | 3461/5748 | 1154/1915 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
| ANKRD60_chr20_58211126_58233653 | 58228328 | ACTCGGAA others(3): Show |
A | frameshift_variant | HIGH | HG00642.hp2 | a0011 | a0011c0022 | a0011c0022t0005 | a0011c0022t0005g0193 | 1 | 456 | 0.0022 | -10 | c.316 others(17): Show |
p.Met others(5): Show |
ANKRD60 | ENSG00000124227.6 | transcript | ENST00000457363.2 | protein_coding | 1/4 | 325/3407 | 316/1038 | 106/345 | chr20 | TogoVar | |||
| ANKRD65_chr1_1413420_1426276 | 1420938 | A | ACCGCTCC others(3): Show |
frameshift_variant | HIGH | HG03139.hp1 | a0013 | a0013c0024 | a0013c0024t0001 | a0013c0024t0001g0037 | 1 | 146 | 0.0068 | 10 | c.67_ others(15): Show |
p.Leu others(4): Show |
ANKRD65 | ENSG00000235098.9 | transcript | ENST00000537107.6 | protein_coding | 2/4 | 211/2024 | 67/1200 | 23/399 | chr1 | TogoVar | |||
| ANKRD7_chr7_118219704_118247732 | 118224853 | G | GGAAGAGG others(31): Show |
frameshift_variant | HIGH | HG01256.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0001 | 1 | 404 | 0.0025 | 38 | c.24_ others(43): Show |
p.Leu others(4): Show |
ANKRD7 | ENSG00000106013.15 | transcript | ENST00000265224.9 | protein_coding | 1/7 | 189/1313 | 62/765 | 21/254 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| ANKRD7_chr7_118219704_118247732 | 118224885 | TACAACCT others(3): Show |
T | frameshift_variant | HIGH | NA18997.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0031 | 1 | 404 | 0.0025 | -10 | c.57_ others(15): Show |
p.Tyr others(4): Show |
ANKRD7 | ENSG00000106013.15 | transcript | ENST00000265224.9 | protein_coding | 1/7 | 184/1313 | 57/765 | 19/254 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| ANO7_chr2_241183677_241230976 | 241218270 | TGCCGCGC others(81): Show |
T | frameshift_variant | HIGH | NA18994.hp1 | a0033 | a0033c0035 | a0033c0035t0002 | a0033c0035t0002g0318 | 1 | 394 | 0.0025 | -88 | c.221 others(97): Show |
p.Ala others(5): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 21/25 | 2315/4560 | 2218/2640 | 740/879 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
| ANO7_chr2_241183677_241230976 | 241223950 | TCA | T | frameshift_variant | HIGH | HG01099.hp1 HG01884.hp2 HG01891.hp2 others(29): Show |
a0006a0009a0022 | a0006c0006a0006c0018a0009c0016others(3): Show | a0006c0006t0001a0006c0006t0003a0006c0006t0009others(9): Show | a0006c0006t0001g0006 a0006c0006t0001g0254 a0006c0006t0001g0255 others(26): Show |
32 | 394 | 0.0812 | -2 | c.257 others(11): Show |
p.Ser others(5): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 24/25 | 2676/4560 | 2579/2640 | 860/879 | chr2 | TogoVar | |||
| ANO9_chr11_412938_447011 | 429613 | C | CG | frameshift_variant | HIGH | HG00323.hp2 HG00741.hp1 HG01169.hp1 others(6): Show |
a0006a0010a0012 | a0006c0009a0006c0019a0010c0014others(1): Show | a0006c0009t0001a0006c0019t0001a0010c0014t0001others(1): Show | a0006c0009t0001g0125 a0006c0009t0001g0182 a0006c0009t0001g0183 others(6): Show |
9 | 284 | 0.0317 | 1 | c.871 others(4): Show |
p.Arg others(5): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 11/23 | 956/2867 | 871/2349 | 291/782 | chr11 | TogoVar | |||
| ANPEP_chr15_89779895_89819852 | 89785481 | GTCCTTCT others(10): Show |
G | frameshift_variant | HIGH | NA18954.hp2 | a0029 | a0029c0035 | a0029c0035t0002 | a0029c0035t0002g0179 | 1 | 402 | 0.0025 | -17 | c.275 others(26): Show |
p.Glu others(5): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 21/21 | 3075/3662 | 2755/2904 | 919/967 | chr15 | TogoVar | |||
| ANPEP_chr15_89779895_89819852 | 89806360 | C | CG | frameshift_variant | HIGH | HG00735.hp1 HG01255.hp2 HG02145.hp2 others(4): Show |
a0008 | a0008c0015a0008c0021a0008c0022others(2): Show | a0008c0015t0001a0008c0015t0002a0008c0021t0001others(3): Show | a0008c0015t0001g0037 a0008c0015t0001g0067 a0008c0015t0002g0091 others(4): Show |
7 | 402 | 0.0174 | 1 | c.223 others(4): Show |
p.Arg others(4): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 2/21 | 527/3662 | 223/2904 | 75/967 | chr15 | TogoVar | |||
| ANTKMT_chr16_716146_727590 | 721792 | TGCCCACA others(10): Show |
T | frameshift_variant | HIGH | NA18994.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0011 | 1 | 390 | 0.0026 | -17 | c.272 others(24): Show |
p.Leu others(4): Show |
ANTKMT | ENSG00000103254.10 | transcript | ENST00000569529.6 | protein_coding | 3/5 | 401/870 | 272/708 | 91/235 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
| AP1G2_chr14_23554567_23572791 | 23564142 | GATGTCAG others(11): Show |
G | frameshift_variant others(3): Show |
HIGH | HG00609.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0055 | 1 | 394 | 0.0025 | -18 | c.978 others(27): Show |
p.Arg others(5): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 11/22 | 1052/2598 | 978/2358 | 326/785 | chr14 | TogoVar | |||
| AP1M2_chr19_10567671_10592312 | 10584037 | CCACATCG others(4): Show |
C | frameshift_variant | HIGH | HG00735.hp1 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0157 | 1 | 392 | 0.0026 | -11 | c.65_ others(16): Show |
p.Lys others(4): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2/12 | 156/1748 | 65/1272 | 22/423 | chr19 | TogoVar | |||
| AP2A2_chr11_920870_1017240 | 993808 | C | CACCCGCG others(18): Show |
frameshift_variant | HIGH | NA18994.hp1 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0261 | 1 | 265 | 0.0038 | 25 | c.160 others(34): Show |
p.Ile others(5): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 13/22 | 1785/4587 | 1633/2820 | 545/939 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
| AP5B1_chr11_65768898_65785976 | 65779948 | ACAGGGCC others(9): Show |
A | frameshift_variant | HIGH | NA18955.hp1 | a0011 | a0011c0015 | a0011c0015t0027 | a0011c0015t0027g0030 | 1 | 422 | 0.0024 | -16 | c.529 others(23): Show |
p.Gly others(5): Show |
AP5B1 | ENSG00000254470.3 | transcript | ENST00000532090.3 | protein_coding | 2/2 | 929/6980 | 529/2637 | 177/878 | chr11 | TogoVar |