view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUC4_chr3_195741771_195816929 | 195783777 | T | TGCCGAGG others(41): Show |
disruptive_inframe_insertion | MODERATE | HG01496.hp2 | a0120 | a0120c0060 | a0120c0060t0001 | a0120c0060t0001g0092 | 1 | 249 | 0.0040 | 48 | c.780 others(57): Show |
p.Ala others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7914/16756 | 7802/16239 | 2601/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783878 | C | CGGAAGTG others(41): Show |
conservative_inframe_insertion | MODERATE | HG02257.hp1 HG02723.hp1 HG02895.hp1 |
a0078a0093a0094 | a0078c0193a0093c0179a0094c0178 | a0078c0193t0003a0093c0179t0012a0094c0178t0004 | a0078c0193t0003g0213a0093c0179t0012g0236a0094c0178t0004g0235 | 3 | 249 | 0.0121 | 48 | c.770 others(57): Show |
p.Ser others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7813/16756 | 7701/16239 | 2567/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783911 | G | GACCGGTG others(41): Show |
conservative_inframe_insertion | MODERATE | HG03098.hp1 | a0049 | a0049c0145 | a0049c0145t0008 | a0049c0145t0008g0055 | 1 | 249 | 0.0040 | 48 | c.766 others(57): Show |
p.Gly others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7780/16756 | 7668/16239 | 2556/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783935 | T | TGGTGACA others(41): Show |
conservative_inframe_insertion | MODERATE | NA18948.hp1 | a0148 | a0148c0073 | a0148c0073t0001 | a0148c0073t0001g0150 | 1 | 249 | 0.0040 | 48 | c.764 others(57): Show |
p.Thr others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7756/16756 | 7644/16239 | 2548/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783982 | T | TCGGTGAC others(41): Show |
conservative_inframe_insertion | MODERATE | HG02056.hp2 HG02071.hp1 NA18959.hp1 others(1): Show |
a0118a0144a0145others(1): Show | a0118c0112a0144c0071a0145c0070others(1): Show | a0118c0112t0001a0144c0071t0001a0145c0070t0001others(1): Show | a0118c0112t0001g0109a0144c0071t0001g0095a0145c0070t0001g0169others(1): Show | 4 | 249 | 0.0161 | 48 | c.759 others(57): Show |
p.Asn others(61): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7709/16756 | 7597/16239 | 2533/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784052 | T | TGTCACCT others(41): Show |
conservative_inframe_insertion | MODERATE | HG02717.hp2 | a0055 | a0055c0143 | a0055c0143t0001 | a0055c0143t0001g0007 | 1 | 249 | 0.0040 | 48 | c.752 others(57): Show |
p.His others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7639/16756 | 7527/16239 | 2509/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784127 | C | CGGTGACA others(41): Show |
conservative_inframe_insertion | MODERATE | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(107): Show |
a0002a0004a0005others(80): Show | a0002c0002a0002c0098a0002c0099others(89): Show | a0002c0002t0001a0002c0098t0001a0002c0099t0001others(89): Show | a0002c0002t0001g0002a0002c0002t0001g0120a0002c0002t0001g0128others(106): Show | 110 | 249 | 0.4418 | 48 | c.745 others(57): Show |
p.Thr others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7564/16756 | 7452/16239 | 2484/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784162 | A | ATTGAGGA others(41): Show |
conservative_inframe_insertion | MODERATE | HG02615.hp1 | a0079 | a0079c0192 | a0079c0192t0004 | a0079c0192t0004g0242 | 1 | 249 | 0.0040 | 48 | c.741 others(57): Show |
p.Val others(61): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7529/16756 | 7417/16239 | 2473/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784272 | G | GGTGACAT others(41): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00558.hp1 HG01255.hp1 others(8): Show |
a0095a0099a0100others(8): Show | a0095c0025a0099c0119a0100c0120others(8): Show | a0095c0025t0001a0099c0119t0001a0100c0120t0001others(8): Show | a0095c0025t0001g0137a0099c0119t0001g0031a0100c0120t0001g0091others(8): Show | 11 | 249 | 0.0442 | 48 | c.730 others(57): Show |
p.Thr others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7419/16756 | 7307/16239 | 2436/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784567 | G | GGCAGAGG others(41): Show |
conservative_inframe_insertion | MODERATE | HG03098.hp2 | a0069 | a0069c0172 | a0069c0172t0005 | a0069c0172t0005g0230 | 1 | 249 | 0.0040 | 48 | c.701 others(57): Show |
p.Leu others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7124/16756 | 7012/16239 | 2338/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784799 | C | CGGTGACA others(41): Show |
conservative_inframe_insertion | MODERATE | HG00558.hp1 NA19007.hp2 |
a0114a0115 | a0114c0052a0115c0051 | a0114c0052t0001a0115c0051t0001 | a0114c0052t0001g0138a0115c0051t0001g0134 | 2 | 249 | 0.0080 | 48 | c.678 others(57): Show |
p.Thr others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6892/16756 | 6780/16239 | 2260/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784939 | G | GGGCTAGT others(41): Show |
conservative_inframe_insertion | MODERATE | HG02615.hp2 HG03098.hp1 |
a0048a0049 | a0048c0146a0049c0145 | a0048c0146t0004a0049c0145t0008 | a0048c0146t0004g0233a0049c0145t0008g0055 | 2 | 249 | 0.0080 | 48 | c.664 others(57): Show |
p.Ser others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6752/16756 | 6640/16239 | 2214/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784965 | C | CTGTCCTG others(41): Show |
disruptive_inframe_insertion | MODERATE | HG00558.hp1 NA18982.hp2 NA19007.hp2 |
a0095a0114a0115 | a0095c0025a0114c0052a0115c0051 | a0095c0025t0001a0114c0052t0001a0115c0051t0001 | a0095c0025t0001g0137a0114c0052t0001g0138a0115c0051t0001g0134 | 3 | 249 | 0.0121 | 48 | c.661 others(57): Show |
p.Gly others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6726/16756 | 6614/16239 | 2205/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195785166 | G | GGATGCTG others(41): Show |
disruptive_inframe_insertion | MODERATE | HG02615.hp1 | a0079 | a0079c0192 | a0079c0192t0004 | a0079c0192t0004g0242 | 1 | 249 | 0.0040 | 48 | c.641 others(57): Show |
p.Ser others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6525/16756 | 6413/16239 | 2138/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195785287 | A | AGAAGAGG others(41): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG03688.hp2 HG03942.hp2 others(1): Show |
a0025a0076a0156 | a0025c0010a0076c0168a0156c0106 | a0025c0010t0001a0076c0168t0001a0156c0106t0001 | a0025c0010t0001g0078a0025c0010t0001g0141a0076c0168t0001g0082others(1): Show | 4 | 249 | 0.0161 | 48 | c.629 others(57): Show |
p.Leu others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6404/16756 | 6292/16239 | 2098/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195785501 | T | TGGATGCT others(41): Show |
conservative_inframe_insertion | MODERATE | HG02615.hp1 | a0079 | a0079c0192 | a0079c0192t0004 | a0079c0192t0004g0242 | 1 | 249 | 0.0040 | 48 | c.607 others(57): Show |
p.Ser others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6190/16756 | 6078/16239 | 2026/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195785567 | C | CGGTGACA others(41): Show |
conservative_inframe_insertion | MODERATE | HG01433.hp2 HG01884.hp2 HG02257.hp1 others(3): Show |
a0078a0082a0083others(3): Show | a0078c0193a0082c0191a0083c0190others(3): Show | a0078c0193t0003a0082c0191t0005a0083c0190t0004others(3): Show | a0078c0193t0003g0213a0082c0191t0005g0244a0083c0190t0004g0241others(3): Show | 6 | 249 | 0.0241 | 48 | c.601 others(57): Show |
p.Thr others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6124/16756 | 6012/16239 | 2004/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195785789 | T | TGGACACT others(41): Show |
conservative_inframe_insertion | MODERATE | HG03098.hp2 HG03579.hp1 |
a0069a0104 | a0069c0172a0104c0030 | a0069c0172t0005a0104c0030t0005 | a0069c0172t0005g0230a0104c0030t0005g0232 | 2 | 249 | 0.0080 | 48 | c.579 others(57): Show |
p.Ser others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 5902/16756 | 5790/16239 | 1930/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195786007 | G | GGAAGAGT others(41): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG02895.hp2 HG03688.hp2 others(2): Show |
a0025a0074a0076others(1): Show | a0025c0010a0074c0167a0076c0168others(1): Show | a0025c0010t0001a0074c0167t0001a0076c0168t0001others(1): Show | a0025c0010t0001g0078a0025c0010t0001g0141a0074c0167t0001g0067others(2): Show | 5 | 249 | 0.0201 | 48 | c.557 others(57): Show |
p.Leu others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 5684/16756 | 5572/16239 | 1858/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195786071 | C | CCCCTGTG others(41): Show |
conservative_inframe_insertion | MODERATE | HG02615.hp1 | a0079 | a0079c0192 | a0079c0192t0004 | a0079c0192t0004g0242 | 1 | 249 | 0.0040 | 48 | c.550 others(57): Show |
p.Gly others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 5620/16756 | 5508/16239 | 1836/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195786096 | G | GGTGACAG others(41): Show |
disruptive_inframe_insertion | MODERATE | HG02717.hp2 HG03041.hp1 HG03225.hp1 |
a0051a0054a0055 | a0051c0139a0054c0141a0055c0143 | a0051c0139t0001a0054c0141t0001a0055c0143t0001 | a0051c0139t0001g0068a0054c0141t0001g0069a0055c0143t0001g0007 | 3 | 249 | 0.0121 | 48 | c.548 others(57): Show |
p.Thr others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 5595/16756 | 5483/16239 | 1828/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195786526 | C | CCGGTGAC others(41): Show |
conservative_inframe_insertion | MODERATE | HG02273.hp1 NA19043.hp2 |
a0113a0177 | a0113c0047a0177c0035 | a0113c0047t0001a0177c0035t0002 | a0113c0047t0001g0126a0177c0035t0002g0196 | 2 | 249 | 0.0080 | 48 | c.505 others(57): Show |
p.Thr others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 5165/16756 | 5053/16239 | 1685/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195786549 | G | GTGACGTG others(41): Show |
disruptive_inframe_insertion | MODERATE | HG01884.hp1 HG01975.hp1 HG02451.hp2 others(6): Show |
a0066a0068a0069others(6): Show | a0066c0177a0068c0171a0069c0172others(6): Show | a0066c0177t0004a0068c0171t0005a0069c0172t0005others(6): Show | a0066c0177t0004g0226a0068c0171t0005g0229a0069c0172t0005g0230others(6): Show | 9 | 249 | 0.0361 | 48 | c.503 others(57): Show |
p.His others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 5142/16756 | 5030/16239 | 1677/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195786670 | T | TTGGTGAC others(41): Show |
conservative_inframe_insertion | MODERATE | HG00423.hp1 HG00438.hp2 HG00558.hp1 others(41): Show |
a0002a0008a0010others(28): Show | a0002c0002a0002c0098a0002c0099others(34): Show | a0002c0002t0001a0002c0098t0001a0002c0099t0001others(34): Show | a0002c0002t0001g0002a0002c0002t0001g0120a0002c0002t0001g0128others(40): Show | 44 | 249 | 0.1767 | 48 | c.490 others(57): Show |
p.Thr others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 5021/16756 | 4909/16239 | 1637/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195786700 | G | GTGGATGC others(41): Show |
conservative_inframe_insertion | MODERATE | HG02976.hp2 | a0062 | a0062c0197 | a0062c0197t0009 | a0062c0197t0009g0243 | 1 | 249 | 0.0040 | 48 | c.487 others(57): Show |
p.Ser others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4991/16756 | 4879/16239 | 1627/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787063 | T | TGAAGAGG others(41): Show |
conservative_inframe_insertion | MODERATE | HG03239.hp1 | a0020 | a0020c0067 | a0020c0067t0001 | a0020c0067t0001g0090 | 1 | 249 | 0.0040 | 48 | c.451 others(57): Show |
p.Leu others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4628/16756 | 4516/16239 | 1506/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787166 | A | AGGTGGCA others(41): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(22): Show |
a0026a0051a0052others(21): Show | a0026c0009a0051c0139a0052c0140others(21): Show | a0026c0009t0002a0051c0139t0001a0052c0140t0002others(21): Show | a0026c0009t0002g0112a0026c0009t0002g0192a0051c0139t0001g0068others(22): Show | 25 | 249 | 0.1004 | 48 | c.441 others(57): Show |
p.Thr others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4525/16756 | 4413/16239 | 1471/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787255 | G | GGAAGAGG others(41): Show |
conservative_inframe_insertion | MODERATE | HG03688.hp1 HG03688.hp2 HG03942.hp2 |
a0025a0081 | a0025c0010a0081c0189 | a0025c0010t0001a0081c0189t0011 | a0025c0010t0001g0078a0025c0010t0001g0141a0081c0189t0011g0206 | 3 | 249 | 0.0121 | 48 | c.432 others(57): Show |
p.Leu others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4436/16756 | 4324/16239 | 1442/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787294 | T | TTGGTGAC others(41): Show |
conservative_inframe_insertion | MODERATE | NA18998.hp1 | a0119 | a0119c0078 | a0119c0078t0001 | a0119c0078t0001g0099 | 1 | 249 | 0.0040 | 48 | c.428 others(57): Show |
p.Asp others(61): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4397/16756 | 4285/16239 | 1429/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787509 | G | GTCACCTG others(41): Show |
disruptive_inframe_insertion | MODERATE | HG01070.hp2 HG01071.hp1 |
a0019 | a0019c0014 | a0019c0014t0001 | a0019c0014t0001g0072a0019c0014t0001g0100 | 2 | 249 | 0.0080 | 48 | c.407 others(57): Show |
p.His others(61): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4182/16756 | 4070/16239 | 1357/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787509 | G | GTCACCTG others(41): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(18): Show |
a0026a0052a0061others(17): Show | a0026c0009a0052c0140a0061c0198others(17): Show | a0026c0009t0002a0052c0140t0002a0061c0198t0008others(17): Show | a0026c0009t0002g0112a0026c0009t0002g0192a0052c0140t0002g0062others(18): Show | 21 | 249 | 0.0843 | 48 | c.407 others(57): Show |
p.His others(61): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4182/16756 | 4070/16239 | 1357/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787583 | T | TGGTGACA others(41): Show |
conservative_inframe_insertion | MODERATE | HG02040.hp2 | a0170 | a0170c0110 | a0170c0110t0001 | a0170c0110t0001g0103 | 1 | 249 | 0.0040 | 48 | c.399 others(57): Show |
p.Thr others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4108/16756 | 3996/16239 | 1332/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787790 | A | AGGTGGCA others(41): Show |
conservative_inframe_insertion | MODERATE | HG01192.hp2 HG01346.hp2 HG02145.hp2 others(2): Show |
a0054a0058a0059others(2): Show | a0054c0141a0058c0200a0059c0201others(2): Show | a0054c0141t0001a0058c0200t0015a0059c0201t0009others(2): Show | a0054c0141t0001g0069a0058c0200t0015g0234a0059c0201t0009g0237others(2): Show | 5 | 249 | 0.0201 | 48 | c.378 others(57): Show |
p.Thr others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3901/16756 | 3789/16239 | 1263/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787879 | G | GGAAGAGG others(41): Show |
conservative_inframe_insertion | MODERATE | NA18959.hp1 | a0118 | a0118c0112 | a0118c0112t0001 | a0118c0112t0001g0109 | 1 | 249 | 0.0040 | 48 | c.370 others(57): Show |
p.Leu others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3812/16756 | 3700/16239 | 1234/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787879 | G | GGAAGAGG others(41): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(101): Show |
a0002a0004a0005others(74): Show | a0002c0002a0002c0098a0002c0099others(84): Show | a0002c0002t0001a0002c0098t0001a0002c0099t0001others(84): Show | a0002c0002t0001g0002a0002c0002t0001g0120a0002c0002t0001g0128others(100): Show | 104 | 249 | 0.4177 | 48 | c.370 others(57): Show |
p.Leu others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3812/16756 | 3700/16239 | 1234/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787939 | G | GTGTCACC others(41): Show |
conservative_inframe_insertion | MODERATE | HG02717.hp2 HG03225.hp1 NA18906.hp1 |
a0051a0055a0056 | a0051c0139a0055c0143a0056c0142 | a0051c0139t0001a0055c0143t0001a0056c0142t0007 | a0051c0139t0001g0068a0055c0143t0001g0007a0056c0142t0007g0006 | 3 | 249 | 0.0121 | 48 | c.364 others(57): Show |
p.Ala others(61): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3752/16756 | 3640/16239 | 1214/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195788015 | T | TGGTGACA others(41): Show |
conservative_inframe_insertion | MODERATE | HG02717.hp2 HG03225.hp1 NA18906.hp1 |
a0051a0055a0056 | a0051c0139a0055c0143a0056c0142 | a0051c0139t0001a0055c0143t0001a0056c0142t0007 | a0051c0139t0001g0068a0055c0143t0001g0007a0056c0142t0007g0006 | 3 | 249 | 0.0121 | 48 | c.356 others(57): Show |
p.Thr others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3676/16756 | 3564/16239 | 1188/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195788119 | T | TGAAGAGG others(41): Show |
conservative_inframe_insertion | MODERATE | HG01891.hp2 | a0061 | a0061c0198 | a0061c0198t0008 | a0061c0198t0008g0222 | 1 | 249 | 0.0040 | 48 | c.346 others(57): Show |
p.Leu others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3572/16756 | 3460/16239 | 1154/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195788124 | A | ACGGGTGG others(41): Show |
disruptive_inframe_insertion | MODERATE | HG03688.hp2 HG03942.hp2 |
a0025 | a0025c0010 | a0025c0010t0001 | a0025c0010t0001g0078a0025c0010t0001g0141 | 2 | 249 | 0.0080 | 48 | c.345 others(57): Show |
p.Pro others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3567/16756 | 3455/16239 | 1152/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195788543 | T | TGGTGACA others(41): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(120): Show |
a0002a0004a0005others(90): Show | a0002c0002a0002c0098a0002c0099others(100): Show | a0002c0002t0001a0002c0098t0001a0002c0099t0001others(100): Show | a0002c0002t0001g0002a0002c0002t0001g0120a0002c0002t0001g0128others(119): Show | 123 | 249 | 0.4940 | 48 | c.303 others(57): Show |
p.Thr others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3148/16756 | 3036/16239 | 1012/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195802383 | G | GCACCCCT others(41): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01515.hp2 others(1): Show |
a0005a0026a0107 | a0005c0016a0026c0009a0107c0041 | a0005c0016t0002a0026c0009t0002a0107c0041t0001 | a0005c0016t0002g0180a0005c0016t0002g0181a0026c0009t0002g0112others(1): Show | 4 | 249 | 0.0161 | 48 | c.82+ others(63): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 1/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195816436 | C | CGCCCAGC others(41): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 | a0024 | a0024c0012 | a0024c0012t0001 | a0024c0012t0001g0156 | 1 | 249 | 0.0040 | 48 | c.-46 others(59): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 4508 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195816535 | T | TCAGCCTG others(41): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG01975.hp1 HG02258.hp2 others(4): Show |
a0060a0066a0068others(4): Show | a0060c0199a0066c0177a0068c0171others(4): Show | a0060c0199t0009a0066c0177t0004a0068c0171t0005others(4): Show | a0060c0199t0009g0224a0066c0177t0004g0226a0068c0171t0005g0229others(4): Show | 7 | 249 | 0.0281 | 48 | c.-47 others(59): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 4607 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195816679 | C | CCAGCCTG others(41): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01167.hp2 others(32): Show |
a0007a0015a0016others(30): Show | a0007c0007a0015c0023a0016c0024others(30): Show | a0007c0007t0003a0015c0023t0003a0016c0024t0003others(30): Show | a0007c0007t0003g0209a0015c0023t0003g0210a0015c0023t0003g0212others(32): Show | 35 | 249 | 0.1406 | 48 | c.-48 others(59): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 4751 | chr3 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110690460 | T | TTAAATAT others(41): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151 | 1 | 326 | 0.0031 | 48 | c.358 others(65): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MYBBP1A_chr17_4533904_4560384 | 4540924 | A | AGGCCCCG others(41): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0120a0001c0002t0002g0128 | 2 | 474 | 0.0042 | 48 | c.329 others(65): Show |
MYBBP1A | ENSG00000132382.15 | transcript | ENST00000254718.9 | protein_coding | 24/25 | chr17 | TogoVar | |||||||
MYBPC3_chr11_47326406_47357702 | 47348908 | T | TTATATAT others(41): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0175 | 1 | 374 | 0.0027 | 48 | c.655 others(63): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77294115 | T | TACATATA others(41): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02970.hp1 |
a0001a0010 | a0001c0001a0010c0025 | a0001c0001t0001a0010c0025t0001 | a0001c0001t0001g0085a0010c0025t0001g0086 | 2 | 334 | 0.0060 | 48 | c.378 others(65): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | |||||||
MYH10_chr17_8469224_8635725 | 8511071 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0125 | 1 | 274 | 0.0037 | 48 | c.295 others(67): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 24/42 | chr17 | TogoVar | |||||||
MYH10_chr17_8469224_8635725 | 8596630 | A | AAGGGAGG others(41): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02970.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0019a0001c0009t0010 | a0001c0001t0019g0089a0001c0009t0010g0004 | 2 | 274 | 0.0073 | 48 | c.503 others(65): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 3/42 | chr17 | TogoVar |