| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CEL_chr9_133056981_133076861 | 133071369 | G | GCCCCCCC others(20426): Show |
stop_gained others(1): Show |
HIGH | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 385 | 0.0026 | 20433 | c.187 others(20442): Show |
p.Pro others(20446): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1898/2381 | 1876/2262 | 626/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071504 | C | CCCCCCGT others(59): Show |
conservative_inframe_insertion | MODERATE | NA19043.hp2 | a0017 | a0017c0018 | a0017c0018t0001 | a0017c0018t0001g0045 | 1 | 413 | 0.0024 | 66 | c.202 others(75): Show |
p.Asp others(79): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2048/2381 | 2026/2262 | 676/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071533 | G | GCCCCCCC others(95): Show |
stop_gained others(1): Show |
HIGH | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 229 | 0.0044 | 102 | c.204 others(111): Show |
p.Pro others(115): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2063/2381 | 2041/2262 | 681/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071567 | G | GCCCCCCC others(95): Show |
stop_gained others(1): Show |
HIGH | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 322 | 0.0031 | 102 | c.207 others(111): Show |
p.Pro others(115): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2096/2381 | 2074/2262 | 692/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CENPV_chr17_16337537_16358469 | 16353349 | C | CGGCCGCG others(11): Show |
conservative_inframe_insertion | MODERATE | NA18986.hp2 NA19083.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 2 | 351 | 0.0057 | 18 | c.70_ others(23): Show |
p.Ala others(29): Show |
CENPV | ENSG00000166582.11 | transcript | ENST00000299736.5 | protein_coding | 1/5 | 120/1132 | 87/819 | 29/272 | chr17 | TogoVar | |||
| CENPV_chr17_16337537_16358469 | 16353349 | C | CGGCCGCG others(47): Show |
conservative_inframe_insertion | MODERATE | NA18980.hp1 NA18987.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 a0002c0002t0001g0048 |
2 | 351 | 0.0057 | 54 | c.87_ others(59): Show |
p.Ala others(65): Show |
CENPV | ENSG00000166582.11 | transcript | ENST00000299736.5 | protein_coding | 1/5 | 120/1132 | 87/819 | 29/272 | chr17 | TogoVar | |||
| CENPV_chr17_16337537_16358469 | 16353372 | G | GCGGAGGC others(2): Show |
conservative_inframe_insertion | MODERATE | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(213): Show |
a0001a0003a0005 | a0001c0001a0001c0006a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(61): Show |
216 | 353 | 0.6119 | 9 | c.56_ others(14): Show |
p.Gly others(11): Show |
CENPV | ENSG00000166582.11 | transcript | ENST00000299736.5 | protein_coding | 1/5 | 97/1132 | 64/819 | 22/272 | chr17 | TogoVar | |||
| CENPV_chr17_16337537_16358469 | 16353372 | G | GCGGAGGC others(11): Show |
conservative_inframe_insertion | MODERATE | HG02451.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0118 | 1 | 138 | 0.0072 | 18 | c.64_ others(23): Show |
p.Ser others(29): Show |
CENPV | ENSG00000166582.11 | transcript | ENST00000299736.5 | protein_coding | 1/5 | 97/1132 | 64/819 | 22/272 | chr17 | TogoVar | |||
| CEP170B_chr14_104860268_104901747 | 104887449 | C | CACCGGGG others(11): Show |
conservative_inframe_insertion | MODERATE | NA18960.hp2 | a0025 | a0025c0085 | a0025c0085t0002 | a0025c0085t0002g0209 | 1 | 326 | 0.0031 | 18 | c.321 others(27): Show |
p.Thr others(15): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 12/19 | 3502/6727 | 3229/4665 | 1077/1554 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
| CFAP276_chr1_109100951_109117747 | 109108012 | T | TGTGTTGG others(464): Show |
stop_gained others(1): Show |
HIGH | HG01243.hp1 HG02559.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0046 a0004c0006t0001g0055 |
2 | 399 | 0.0050 | 471 | c.106 others(478): Show |
p.Thr others(482): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 2/5 | 174/655 | 106/510 | 36/169 | chr1 | TogoVar | |||
| CFAP74_chr1_1916957_2008786 | 1923415 | C | CGGGCACG others(23): Show |
conservative_inframe_insertion | MODERATE | HG00609.hp1 | a0021 | a0021c0079 | a0021c0079t0001 | a0021c0079t0001g0273 | 1 | 276 | 0.0036 | 30 | c.447 others(39): Show |
p.Pro others(45): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 36/39 | 4578/5355 | 4473/4920 | 1491/1639 | chr1 | TogoVar | |||
| CFAP74_chr1_1916957_2008786 | 1926943 | C | CAACAACA others(5): Show |
conservative_inframe_insertion | MODERATE | HG04184.hp1 | a0037 | a0037c0062 | a0037c0062t0001 | a0037c0062t0001g0245 | 1 | 276 | 0.0036 | 12 | c.360 others(21): Show |
p.Val others(27): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 29/39 | 3717/5355 | 3612/4920 | 1204/1639 | chr1 | TogoVar | |||
| CFAP74_chr1_1916957_2008786 | 1968667 | T | TCTC | conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(70): Show |
a0001a0006a0014others(4): Show | a0001c0003a0001c0010a0001c0013others(29): Show | a0001c0003t0001a0001c0010t0001a0001c0010t0007others(31): Show | a0001c0003t0001g0053 a0001c0003t0001g0088 a0001c0003t0001g0091 others(70): Show |
73 | 276 | 0.2645 | 3 | c.121 others(12): Show |
p.Lys others(16): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 11/39 | 1317/5355 | 1212/4920 | 404/1639 | chr1 | TogoVar | |||
| CHIT1_chr1_203211079_203234673 | 203217822 | C | CAGACCAT others(17): Show |
stop_gained others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(172): Show |
a0001a0009a0014others(5): Show | a0001c0001a0001c0022a0001c0025others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0022t0001others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(41): Show |
175 | 482 | 0.3631 | 24 | c.104 others(33): Show |
p.Val others(37): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 10/11 | 1109/2248 | 1072/1401 | 358/466 | chr1 | TogoVar | |||
| CHRNA3_chr15_78590309_78625996 | 78620725 | A | ACAG | conservative_inframe_insertion | MODERATE | HG00609.hp2 HG01099.hp2 HG02004.hp2 others(5): Show |
a0003 | a0003c0007a0003c0010 | a0003c0007t0004a0003c0007t0010a0003c0010t0002 | a0003c0007t0004g0022 a0003c0007t0004g0060 a0003c0007t0004g0061 others(2): Show |
8 | 94 | 0.0851 | 3 | c.67_ others(8): Show |
p.Leu others(5): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 1/6 | 271/3015 | 69/1518 | 23/505 | chr15 | TogoVar | |||
| CHST2_chr3_143114771_143129014 | 143120959 | T | TGGGGGGG others(23): Show |
conservative_inframe_insertion | MODERATE | NA18997.hp1 | a0006 | a0006c0011 | a0006c0011t0003 | a0006c0011t0003g0001 | 1 | 462 | 0.0022 | 30 | c.144 others(37): Show |
p.Met others(41): Show |
CHST2 | ENSG00000175040.6 | transcript | ENST00000309575.5 | protein_coding | 2/2 | 1089/4142 | 145/1593 | 49/530 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
| CKAP4_chr12_106232881_106253020 | 106247569 | A | AGGC | conservative_inframe_insertion | MODERATE | HG01361.hp2 HG02486.hp2 HG02723.hp2 others(5): Show |
a0003 | a0003c0005 | a0003c0005t0001a0003c0005t0003a0003c0005t0010 | a0003c0005t0001g0019 a0003c0005t0003g0018 a0003c0005t0010g0032 |
8 | 416 | 0.0192 | 3 | c.280 others(10): Show |
p.Ala others(5): Show |
CKAP4 | ENSG00000136026.14 | transcript | ENST00000378026.5 | protein_coding | 1/2 | 451/3121 | 282/1809 | 94/602 | chr12 | TogoVar | |||
| CKAP4_chr12_106232881_106253020 | 106247599 | C | CGGA | conservative_inframe_insertion | MODERATE | HG01978.hp1 HG02738.hp1 NA18944.hp1 others(3): Show |
a0004 | a0004c0006 | a0004c0006t0013a0004c0006t0020 | a0004c0006t0013g0026 a0004c0006t0013g0130 a0004c0006t0020g0049 |
6 | 416 | 0.0144 | 3 | c.250 others(10): Show |
p.Ser others(5): Show |
CKAP4 | ENSG00000136026.14 | transcript | ENST00000378026.5 | protein_coding | 1/2 | 421/3121 | 252/1809 | 84/602 | chr12 | TogoVar | |||
| CKAP4_chr12_106232881_106253020 | 106247671 | T | TCTGCGGG others(5): Show |
conservative_inframe_insertion | MODERATE | NA18951.hp2 NA18969.hp1 NA18971.hp1 others(1): Show |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0030 a0005c0008t0001g0160 |
4 | 414 | 0.0097 | 12 | c.169 others(19): Show |
p.Gln others(23): Show |
CKAP4 | ENSG00000136026.14 | transcript | ENST00000378026.5 | protein_coding | 1/2 | 349/3121 | 180/1809 | 60/602 | chr12 | TogoVar | |||
| CLCA4_chr1_86542078_86585754 | 86580219 | A | ACCTACT | conservative_inframe_insertion | MODERATE | HG01081.hp1 HG01257.hp2 HG02683.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0063 |
4 | 302 | 0.0132 | 6 | c.265 others(15): Show |
p.Thr others(13): Show |
CLCA4 | ENSG00000016602.9 | transcript | ENST00000370563.3 | protein_coding | 14/14 | 2704/3211 | 2662/2760 | 888/919 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
| CLEC4M_chr19_7758243_7774605 | 7765853 | G | GCTGCAGT others(131): Show |
conservative_inframe_insertion | MODERATE | NA18943.hp1 | a0009 | a0009c0016 | a0009c0016t0001 | a0009c0016t0001g0005 | 1 | 458 | 0.0022 | 138 | c.567 others(145): Show |
p.Lys others(151): Show |
CLEC4M | ENSG00000104938.18 | transcript | ENST00000327325.10 | protein_coding | 4/7 | 592/1841 | 568/1200 | 190/399 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
| CNDP1_chr18_74529500_74592212 | 74556356 | G | GTGC | conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(244): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0002a0001c0005others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(84): Show | a0001c0001t0001g0024 a0001c0001t0001g0096 a0001c0001t0001g0114 others(241): Show |
247 | 381 | 0.6483 | 3 | c.58_ others(8): Show |
p.Leu others(5): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 2/12 | 229/4342 | 61/1524 | 21/507 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||
| CNPPD1_chr2_219166897_219181925 | 219176324 | G | GGGGAACA others(20): Show |
stop_gained others(1): Show |
HIGH | NA19086.hp1 | a0012 | a0012c0017 | a0012c0017t0007 | a0012c0017t0007g0033 | 1 | 430 | 0.0023 | 27 | c.76_ others(32): Show |
p.Leu others(38): Show |
CNPPD1 | ENSG00000115649.16 | transcript | ENST00000360507.10 | protein_coding | 2/8 | 173/2019 | 76/1233 | 26/410 | chr2 | TogoVar | |||
| CPEB2_chr4_14997481_15075151 | 15004114 | A | AGCG | conservative_inframe_insertion | MODERATE | HG00323.hp2 HG00423.hp1 HG01975.hp1 others(10): Show |
a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0009 a0005c0005t0005g0016 a0005c0005t0005g0037 others(7): Show |
13 | 286 | 0.0455 | 3 | c.145 others(12): Show |
p.Gly others(6): Show |
CPEB2 | ENSG00000137449.17 | transcript | ENST00000538197.7 | protein_coding | 1/12 | 1655/7069 | 1462/3105 | 488/1034 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
| CRCT1_chr1_152509482_152521008 | 152515515 | G | GGGCTGCT others(11): Show |
conservative_inframe_insertion | MODERATE | HG00558.hp1 HG00673.hp2 HG02027.hp2 others(7): Show |
a0004 | a0004c0006 | a0004c0006t0004a0004c0006t0006 | a0004c0006t0004g0006 a0004c0006t0006g0008 |
10 | 430 | 0.0233 | 18 | c.145 others(25): Show |
p.Asp others(11): Show |
CRCT1 | ENSG00000169509.6 | transcript | ENST00000368790.4 | protein_coding | 2/2 | 256/718 | 163/300 | 55/99 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
| CRH_chr8_66171376_66183464 | 66177323 | T | TGCG | conservative_inframe_insertion | MODERATE | HG02040.hp2 HG02083.hp1 NA18612.hp1 others(5): Show |
a0002 | a0002c0003a0002c0007 | a0002c0003t0001a0002c0007t0001 | a0002c0003t0001g0005 a0002c0007t0001g0020 |
8 | 372 | 0.0215 | 3 | c.152 others(10): Show |
p.Pro others(5): Show |
CRH | ENSG00000147571.5 | transcript | ENST00000276571.5 | protein_coding | 2/2 | 340/1288 | 154/591 | 52/196 | chr8 | TogoVar | |||
| CRYAA_chr21_43164008_43177805 | 43172219 | A | ACGCCGAG others(32): Show |
conservative_inframe_insertion | MODERATE | HG04115.hp1 | a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0022 | 1 | 40 | 0.0250 | 39 | c.463 others(46): Show |
p.Ala others(13): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 3/3 | 594/1139 | 502/522 | 168/173 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
| CRYBG2_chr1_26316865_26359130 | 26346647 | G | GCCT | conservative_inframe_insertion | MODERATE | HG02486.hp2 HG02647.hp1 NA18522.hp2 |
a0010 | a0010c0013 | a0010c0013t0002 | a0010c0013t0002g0029 a0010c0013t0002g0298 |
3 | 374 | 0.0080 | 3 | c.8_1 others(7): Show |
p.Glu others(4): Show |
CRYBG2 | ENSG00000176092.17 | transcript | ENST00000308182.10 | protein_coding | 2/20 | 160/5239 | 10/4986 | 4/1661 | chr1 | TogoVar | |||
| CT47C1_chrX_119067993_119081765 | 119073501 | T | TGAGGAGG others(11): Show |
conservative_inframe_insertion | MODERATE | HG01993.hp1 | a0008 | a0008c0017 | a0008c0017t0001 | a0008c0017t0001g0001 | 1 | 308 | 0.0032 | 18 | c.292 others(25): Show |
p.Glu others(12): Show |
CT47C1 | ENSG00000277535.4 | transcript | ENST00000620151.4 | protein_coding | 1/3 | 543/1772 | 310/975 | 104/324 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
| CTBS_chr1_84544611_84579440 | 84574315 | C | CGCAGCGC others(2): Show |
conservative_inframe_insertion | MODERATE | HG00642.hp1 HG01099.hp1 HG02257.hp1 others(5): Show |
a0004 | a0004c0006 | a0004c0006t0001a0004c0006t0019 | a0004c0006t0001g0013 a0004c0006t0001g0092 a0004c0006t0001g0093 others(1): Show |
8 | 231 | 0.0346 | 9 | c.92_ others(15): Show |
p.Leu others(11): Show |
CTBS | ENSG00000117151.13 | transcript | ENST00000370630.6 | protein_coding | 1/7 | 125/6571 | 100/1158 | 34/385 | chr1 | TogoVar | |||
| CUX1_chr7_101812626_102263233 | 102248815 | G | GGCCCCGC others(8): Show |
conservative_inframe_insertion | MODERATE | HG00544.hp1 | a0003 | a0003c0010 | a0003c0010t0038 | a0003c0010t0038g0016 | 1 | 134 | 0.0075 | 15 | c.429 others(24): Show |
p.Pro others(15): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000292535.12 | protein_coding | 24/24 | 4323/13723 | 4309/4518 | 1437/1505 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| CYP2D6_chr22_42121499_42135810 | 42129086 | T | TGCTCCAG others(13703): Show |
stop_gained others(1): Show |
HIGH | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 416 | 0.0024 | 13710 | c.451 others(13717): Show |
p.Glu others(13723): Show |
CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 3/9 | 470/1588 | 451/1494 | 151/497 | chr22 | TogoVar | |||
| DACH1_chr13_71432966_71872204 | 71866406 | T | TGCCGCC | conservative_inframe_insertion | MODERATE | HG01433.hp2 HG02486.hp2 HG02886.hp1 |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0014a0004c0004t0016 | a0004c0004t0001g0097 a0004c0004t0014g0102 a0004c0004t0016g0101 |
3 | 100 | 0.0300 | 6 | c.358 others(13): Show |
p.Gly others(13): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/11 | 798/5245 | 363/2121 | 121/706 | chr13 | TogoVar | |||
| DACH1_chr13_71432966_71872204 | 71866526 | T | TGCCGCC | conservative_inframe_insertion | MODERATE | HG00609.hp1 HG00735.hp2 HG01109.hp1 others(37): Show |
a0002a0004 | a0002c0002a0002c0007a0002c0010others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(10): Show | a0002c0002t0001g0061 a0002c0002t0001g0069 a0002c0002t0001g0072 others(37): Show |
40 | 93 | 0.4301 | 6 | c.238 others(13): Show |
p.Gly others(11): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/11 | 678/5245 | 243/2121 | 81/706 | chr13 | TogoVar | |||
| DAPK3_chr19_3953453_3976099 | 3959597 | C | CGGGGGGG others(11): Show |
conservative_inframe_insertion | MODERATE | NA19068.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0073 | 1 | 362 | 0.0028 | 18 | c.868 others(25): Show |
p.Gly others(31): Show |
DAPK3 | ENSG00000167657.14 | transcript | ENST00000545797.7 | protein_coding | 9/9 | 1141/2286 | 868/1365 | 290/454 | chr19 | TogoVar | |||
| DCHS1_chr11_6616330_6660809 | 6641514 | C | CCAG | conservative_inframe_insertion | MODERATE | HG00423.hp1 HG00423.hp2 HG00597.hp2 others(52): Show |
a0003 | a0003c0002a0003c0009a0003c0028others(4): Show | a0003c0002t0001a0003c0002t0002a0003c0009t0001others(5): Show | a0003c0002t0001g0002 a0003c0002t0001g0004 a0003c0002t0001g0006 others(26): Show |
55 | 370 | 0.1486 | 3 | c.97_ others(8): Show |
p.Leu others(5): Show |
DCHS1 | ENSG00000166341.9 | transcript | ENST00000299441.5 | protein_coding | 2/21 | 466/10713 | 99/9897 | 33/3298 | chr11 | TogoVar | |||
| DDHD1_chr14_53031755_53158323 | 53152762 | T | TGCCGCC | conservative_inframe_insertion | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(209): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0006 a0001c0001t0001g0048 a0001c0001t0001g0049 others(203): Show |
212 | 285 | 0.7439 | 6 | c.331 others(13): Show |
p.Gly others(13): Show |
DDHD1 | ENSG00000100523.17 | transcript | ENST00000673822.2 | protein_coding | 1/13 | 561/12941 | 336/2703 | 112/900 | chr14 | TogoVar | |||
| DDHD1_chr14_53031755_53158323 | 53152762 | T | TGCCGCCG others(5): Show |
conservative_inframe_insertion | MODERATE | NA21309.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0013 | 1 | 74 | 0.0135 | 12 | c.325 others(19): Show |
p.Gly others(25): Show |
DDHD1 | ENSG00000100523.17 | transcript | ENST00000673822.2 | protein_coding | 1/13 | 561/12941 | 336/2703 | 112/900 | chr14 | TogoVar | |||
| DDX54_chr12_113152173_113190478 | 113180950 | A | ACTT | conservative_inframe_insertion | MODERATE | HG02080.hp1 HG02155.hp1 HG02280.hp1 others(25): Show |
a0003 | a0003c0003a0003c0009a0003c0012 | a0003c0003t0003a0003c0009t0001a0003c0012t0003 | a0003c0003t0003g0004 a0003c0003t0003g0012 a0003c0003t0003g0047 others(10): Show |
28 | 304 | 0.0921 | 3 | c.280 others(10): Show |
p.Lys others(5): Show |
DDX54 | ENSG00000123064.13 | transcript | ENST00000306014.10 | protein_coding | 2/20 | 309/4377 | 282/2646 | 94/881 | chr12 | TogoVar | |||
| DENND4B_chr1_153924501_153951718 | 153934802 | C | CCTG | conservative_inframe_insertion | MODERATE | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(56): Show |
a0003a0008 | a0003c0003a0003c0005a0008c0013 | a0003c0003t0001a0003c0005t0001a0008c0013t0001 | a0003c0003t0001g0004 a0003c0003t0001g0005 a0003c0003t0001g0018 others(18): Show |
59 | 260 | 0.2269 | 3 | c.272 others(12): Show |
p.Gln others(6): Show |
DENND4B | ENSG00000198837.10 | transcript | ENST00000361217.9 | protein_coding | 18/28 | 3171/5728 | 2730/4491 | 910/1496 | chr1 | TogoVar | |||
| DEPDC4_chr12_100235062_100272079 | 100263735 | G | GCATAAGA others(53): Show |
conservative_inframe_insertion | MODERATE | NA18960.hp2 | a0010 | a0010c0007 | a0010c0007t0006 | a0010c0007t0006g0103 | 1 | 356 | 0.0028 | 60 | c.256 others(67): Show |
p.Met others(73): Show |
DEPDC4 | ENSG00000166153.17 | transcript | ENST00000550587.6 | protein_coding | 2/10 | 318/3324 | 315/1491 | 105/496 | chr12 | TogoVar | |||
| DHODH_chr16_72003744_72032659 | 72021263 | G | GACTAGCC others(35): Show |
conservative_inframe_insertion | MODERATE | HG01975.hp2 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0178 | 1 | 412 | 0.0024 | 42 | c.657 others(49): Show |
p.Gly others(55): Show |
DHODH | ENSG00000102967.12 | transcript | ENST00000219240.9 | protein_coding | 5/9 | 679/4669 | 658/1188 | 220/395 | chr16 | TogoVar | |||
| DLX2_chr2_172094438_172107900 | 172102400 | G | GGCT | conservative_inframe_insertion | MODERATE | HG00642.hp2 HG01943.hp1 HG02071.hp1 others(9): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0007 | 12 | 388 | 0.0309 | 3 | c.136 others(10): Show |
p.Ser others(5): Show |
DLX2 | ENSG00000115844.11 | transcript | ENST00000234198.9 | protein_coding | 1/3 | 500/2454 | 138/987 | 46/328 | chr2 | TogoVar | |||
| DMKN_chr19_35492220_35518649 | 35511479 | C | CACCACTG others(29): Show |
conservative_inframe_insertion | MODERATE | HG02559.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0214 | 1 | 388 | 0.0026 | 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 |
a0001a0004a0006 | a0001c0002a0004c0005a0004c0010others(1): Show | a0001c0002t0001a0004c0005t0001a0004c0010t0003others(2): Show | a0001c0002t0001g0015 a0001c0002t0001g0121 a0001c0002t0001g0159 others(10): Show |
17 | 351 | 0.0484 | 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 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0154 | 1 | 335 | 0.0030 | 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 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0044 | 1 | 335 | 0.0030 | 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 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0103 | 1 | 414 | 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 | a0004c0004t0001g0028 a0004c0004t0016g0022 |
7 | 416 | 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 |
a0009a0011 | a0009c0011a0011c0010 | a0009c0011t0001a0011c0010t0029 | a0009c0011t0001g0082 a0011c0010t0029g0081 |
2 | 415 | 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 |