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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUC4_chr3_195741771_195816929 | 195782255 | TAGTGACA others(329): Show |
T | conservative_inframe_deletion | MODERATE | HG02486.hp2 HG02647.hp1 HG03209.hp1 |
a0067a0072a0087 | a0067c0120a0072c0122a0087c0123 | a0067c0120t0006a0072c0122t0007a0087c0123t0014 | a0067c0120t0006g0029 a0072c0122t0007g0186 a0087c0123t0014g0184 |
3 | 151 | 0.0199 | -336 | c.898 others(9): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 9436/16756 | 8989/16239 | 2997/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195782255 | TAGTGACA others(377): Show |
T | conservative_inframe_deletion | MODERATE | HG01361.hp2 NA19043.hp2 |
a0015 | a0015c0011 | a0015c0011t0002 | a0015c0011t0002g0194 a0015c0011t0002g0195 |
2 | 150 | 0.0133 | -384 | c.894 others(9): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 9436/16756 | 8941/16239 | 2981/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195782654 | GGGTGGCG others(41): Show |
G | conservative_inframe_deletion | MODERATE | HG00621.hp2 HG00639.hp1 HG00741.hp2 others(23): Show |
a0003a0016a0020others(9): Show | a0003c0004a0003c0006a0003c0144others(13): Show | a0003c0004t0003a0003c0006t0003a0003c0144t0003others(13): Show | a0003c0004t0003g0202 a0003c0004t0003g0203 a0003c0004t0003g0204 others(23): Show |
26 | 139 | 0.1871 | -48 | c.887 others(57): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 9037/16756 | 8878/16239 | 2960/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195782687 | CGGTGACA others(2249): Show |
C | conservative_inframe_deletion | MODERATE | HG02451.hp2 | a0065 | a0065c0142 | a0065c0142t0004 | a0065c0142t0004g0223 | 1 | 223 | 0.0045 | -2256 | c.663 others(9): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 9004/16756 | 6637/16239 | 2213/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195782828 | TGTCGGTG others(89): Show |
T | conservative_inframe_deletion | MODERATE | HG01361.hp2 NA19043.hp2 |
a0015 | a0015c0011 | a0015c0011t0002 | a0015c0011t0002g0194 a0015c0011t0002g0195 |
2 | 222 | 0.0090 | -96 | c.865 others(105): Show |
p.Ala others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8863/16756 | 8656/16239 | 2886/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195782831 | CGGTGACA others(233): Show |
C | conservative_inframe_deletion | MODERATE | HG02647.hp2 HG03098.hp2 |
a0073a0084 | a0073c0139a0084c0138 | a0073c0139t0005a0084c0138t0005 | a0073c0139t0005g0225 a0084c0138t0005g0228 |
2 | 247 | 0.0081 | -240 | c.850 others(9): Show |
p.Ile others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8860/16756 | 8509/16239 | 2837/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195782837 | CAGGAAGA others(41): Show |
C | conservative_inframe_deletion | MODERATE | HG01978.hp2 HG02293.hp2 |
a0051a0063 | a0051c0087a0063c0053 | a0051c0087t0001a0063c0053t0001 | a0051c0087t0001g0015 a0063c0053t0001g0066 |
2 | 248 | 0.0081 | -48 | c.869 others(57): Show |
p.Leu others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8854/16756 | 8695/16239 | 2899/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195782855 | CACCTGTG others(377): Show |
C | conservative_inframe_deletion | MODERATE | HG03225.hp2 | a0090 | a0090c0097 | a0090c0097t0003 | a0090c0097t0003g0067 | 1 | 238 | 0.0042 | -384 | c.834 others(9): Show |
p.His others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8836/16756 | 8341/16239 | 2781/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195782885 | GAGGAAGA others(41): Show |
G | conservative_inframe_deletion | MODERATE | HG02486.hp2 HG02647.hp1 HG02723.hp2 |
a0067a0072a0077 | a0067c0120a0072c0122a0077c0121 | a0067c0120t0006a0072c0122t0007a0077c0121t0007 | a0067c0120t0006g0029 a0072c0122t0007g0186 a0077c0121t0007g0185 |
3 | 114 | 0.0263 | -48 | c.864 others(57): Show |
p.Val others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8806/16756 | 8647/16239 | 2883/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195782894 | GGGTAGCG others(89): Show |
G | conservative_inframe_deletion | MODERATE | HG03209.hp1 | a0087 | a0087c0123 | a0087c0123t0014 | a0087c0123t0014g0184 | 1 | 246 | 0.0041 | -96 | c.859 others(105): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8797/16756 | 8590/16239 | 2864/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195782942 | GGGTGGCA others(41): Show |
G | conservative_inframe_deletion | MODERATE | HG01361.hp2 NA19043.hp2 |
a0015 | a0015c0011 | a0015c0011t0002 | a0015c0011t0002g0194 a0015c0011t0002g0195 |
2 | 244 | 0.0082 | -48 | c.859 others(57): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8749/16756 | 8590/16239 | 2864/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195782948 | CATGACCT others(233): Show |
C | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp1 HG00738.hp2 others(3): Show |
a0014a0027a0028others(2): Show | a0014c0012a0027c0033a0028c0034others(2): Show | a0014c0012t0002a0027c0033t0002a0028c0034t0002others(2): Show | a0014c0012t0002g0062 a0014c0012t0002g0190 a0027c0033t0002g0189 others(3): Show |
6 | 243 | 0.0247 | -240 | c.839 others(9): Show |
p.Thr others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8743/16756 | 8392/16239 | 2798/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783023 | CGGTGACA others(41): Show |
C | conservative_inframe_deletion | MODERATE | HG01891.hp2 | a0049 | a0049c0159 | a0049c0159t0008 | a0049c0159t0008g0220 | 1 | 245 | 0.0041 | -48 | c.850 others(57): Show |
p.Ile others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8668/16756 | 8509/16239 | 2837/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783038 | GGGTGGTG others(41): Show |
G | conservative_inframe_deletion | MODERATE | HG00642.hp1 HG03209.hp2 |
a0033a0088 | a0033c0130a0088c0111 | a0033c0130t0002a0088c0111t0002 | a0033c0130t0002g0174 a0088c0111t0002g0010 |
2 | 247 | 0.0081 | -48 | c.849 others(57): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8653/16756 | 8494/16239 | 2832/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783071 | TGGTGACA others(41): Show |
T | conservative_inframe_deletion | MODERATE | HG02258.hp2 HG02976.hp2 HG03130.hp2 |
a0060a0081a0086 | a0060c0160a0081c0158a0086c0156 | a0060c0160t0009a0081c0158t0009a0086c0156t0012 | a0060c0160t0009g0222 a0081c0158t0009g0244 a0086c0156t0012g0239 |
3 | 245 | 0.0122 | -48 | c.846 others(57): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8620/16756 | 8461/16239 | 2821/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783359 | CGGTGACA others(377): Show |
C | conservative_inframe_deletion | MODERATE | HG01255.hp2 HG01361.hp2 HG04228.hp2 others(3): Show |
a0015a0040a0100others(2): Show | a0015c0011a0040c0127a0100c0128others(2): Show | a0015c0011t0002a0040c0127t0006a0100c0128t0002others(2): Show | a0015c0011t0002g0194 a0015c0011t0002g0195 a0040c0127t0006g0173 others(3): Show |
6 | 243 | 0.0247 | -384 | c.783 others(9): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8332/16756 | 7837/16239 | 2613/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783383 | CACCTGTG others(377): Show |
C | conservative_inframe_deletion | MODERATE | HG01884.hp2 HG03540.hp2 |
a0016 | a0016c0152a0016c0153 | a0016c0152t0004a0016c0153t0005 | a0016c0152t0004g0241 a0016c0153t0005g0242 |
2 | 39 | 0.0513 | -384 | c.781 others(9): Show |
p.Gln others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8308/16756 | 7813/16239 | 2605/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783455 | CGGTGACA others(281): Show |
C | conservative_inframe_deletion | MODERATE | HG02486.hp2 | a0067 | a0067c0120 | a0067c0120t0006 | a0067c0120t0006g0029 | 1 | 67 | 0.0149 | -288 | c.783 others(9): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8236/16756 | 7837/16239 | 2613/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783503 | CGGTGACA others(233): Show |
C | conservative_inframe_deletion | MODERATE | HG03209.hp1 | a0087 | a0087c0123 | a0087c0123t0014 | a0087c0123t0014g0184 | 1 | 194 | 0.0052 | -240 | c.783 others(9): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8188/16756 | 7837/16239 | 2613/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783503 | CGGTGACA others(329): Show |
C | conservative_inframe_deletion | MODERATE | HG00323.hp1 HG00423.hp2 HG00733.hp2 others(41): Show |
a0002a0004a0006others(10): Show | a0002c0002a0002c0125a0002c0126others(15): Show | a0002c0002t0002a0002c0125t0002a0002c0126t0006others(15): Show | a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0004 others(38): Show |
44 | 237 | 0.1857 | -336 | c.774 others(9): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8188/16756 | 7741/16239 | 2581/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783524 | CATGACCG others(41): Show |
C | conservative_inframe_deletion | MODERATE | HG01975.hp1 HG02717.hp1 |
a0050a0074 | a0050c0143a0074c0137 | a0050c0143t0004a0074c0137t0005 | a0050c0143t0004g0224 a0074c0137t0005g0227 |
2 | 126 | 0.0159 | -48 | c.800 others(57): Show |
p.Thr others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8167/16756 | 8008/16239 | 2670/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783527 | GACCGGTG others(41): Show |
G | conservative_inframe_deletion | MODERATE | HG03942.hp1 | a0098 | a0098c0131 | a0098c0131t0002 | a0098c0131t0002g0170 | 1 | 129 | 0.0078 | -48 | c.800 others(57): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8164/16756 | 8005/16239 | 2669/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783647 | CGGTGACA others(185): Show |
C | conservative_inframe_deletion | MODERATE | HG00642.hp1 | a0033 | a0033c0130 | a0033c0130t0002 | a0033c0130t0002g0174 | 1 | 234 | 0.0043 | -192 | c.774 others(9): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8044/16756 | 7741/16239 | 2581/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783695 | TAGTGACA others(89): Show |
T | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp1 HG00738.hp2 others(4): Show |
a0014a0027a0028others(3): Show | a0014c0012a0027c0033a0028c0034others(3): Show | a0014c0012t0002a0027c0033t0002a0028c0034t0002others(3): Show | a0014c0012t0002g0062 a0014c0012t0002g0190 a0027c0033t0002g0189 others(4): Show |
7 | 221 | 0.0317 | -96 | c.778 others(105): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7996/16756 | 7789/16239 | 2597/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783719 | CACCTGTG others(617): Show |
C | conservative_inframe_deletion | MODERATE | HG03225.hp2 | a0090 | a0090c0097 | a0090c0097t0003 | a0090c0097t0003g0067 | 1 | 227 | 0.0044 | -624 | c.723 others(9): Show |
p.His others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7972/16756 | 7237/16239 | 2413/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783791 | CGGTGACA others(185): Show |
C | conservative_inframe_deletion | MODERATE | HG04228.hp2 | a0100 | a0100c0128 | a0100c0128t0002 | a0100c0128t0002g0119 | 1 | 229 | 0.0044 | -192 | c.759 others(9): Show |
p.Asn others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7900/16756 | 7597/16239 | 2533/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783833 | AAGTGCTG others(185): Show |
A | conservative_inframe_deletion | MODERATE | HG02015.hp1 HG02145.hp1 |
a0017 | a0017c0015 | a0017c0015t0001 | a0017c0015t0001g0065 a0017c0015t0001g0108 |
2 | 248 | 0.0081 | -192 | c.755 others(9): Show |
p.Pro others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7858/16756 | 7555/16239 | 2519/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783911 | GACCTGTG others(569): Show |
G | conservative_inframe_deletion | MODERATE | HG01884.hp1 HG02976.hp1 NA18906.hp2 |
a0047a0080a0102 | a0047c0140a0080c0141a0102c0136 | a0047c0140t0005a0080c0141t0002a0102c0136t0005 | a0047c0140t0005g0226 a0080c0141t0002g0219 a0102c0136t0005g0240 |
3 | 227 | 0.0132 | -576 | c.709 others(9): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7780/16756 | 7093/16239 | 2365/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783950 | AGGTGGCG others(377): Show |
A | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp1 HG00738.hp2 others(3): Show |
a0014a0027a0028others(2): Show | a0014c0012a0027c0033a0028c0034others(2): Show | a0014c0012t0002a0027c0033t0002a0028c0034t0002others(2): Show | a0014c0012t0002g0062 a0014c0012t0002g0190 a0027c0033t0002g0189 others(3): Show |
6 | 93 | 0.0645 | -384 | c.724 others(9): Show |
p.His others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7741/16756 | 7246/16239 | 2416/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784244 | CATGACCT others(137): Show |
C | conservative_inframe_deletion | MODERATE | HG02976.hp2 | a0081 | a0081c0158 | a0081c0158t0009 | a0081c0158t0009g0244 | 1 | 247 | 0.0040 | -144 | c.719 others(9): Show |
p.Thr others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7447/16756 | 7192/16239 | 2398/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784295 | CACCTGTG others(41): Show |
C | conservative_inframe_deletion | MODERATE | HG01361.hp2 HG03209.hp2 NA19043.hp2 |
a0015a0088 | a0015c0011a0088c0111 | a0015c0011t0002a0088c0111t0002 | a0015c0011t0002g0194 a0015c0011t0002g0195 a0088c0111t0002g0010 |
3 | 226 | 0.0133 | -48 | c.723 others(57): Show |
p.His others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7396/16756 | 7237/16239 | 2413/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784364 | TGTCGGTG others(41): Show |
T | conservative_inframe_deletion | MODERATE | HG02258.hp2 | a0060 | a0060c0160 | a0060c0160t0009 | a0060c0160t0009g0222 | 1 | 145 | 0.0069 | -48 | c.716 others(57): Show |
p.Ala others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7327/16756 | 7168/16239 | 2390/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784439 | GACCTGAG others(41): Show |
G | conservative_inframe_deletion | MODERATE | HG02145.hp2 | a0058 | a0058c0162 | a0058c0162t0009 | a0058c0162t0009g0237 | 1 | 239 | 0.0042 | -48 | c.709 others(57): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7252/16756 | 7093/16239 | 2365/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784511 | CGGTGACA others(89): Show |
C | conservative_inframe_deletion | MODERATE | HG01975.hp1 HG02717.hp1 HG03225.hp2 |
a0050a0074a0090 | a0050c0143a0074c0137a0090c0097 | a0050c0143t0004a0074c0137t0005a0090c0097t0003 | a0050c0143t0004g0224 a0074c0137t0005g0227 a0090c0097t0003g0067 |
3 | 240 | 0.0125 | -96 | c.697 others(105): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7180/16756 | 6973/16239 | 2325/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784559 | TAGTGACA others(89): Show |
T | conservative_inframe_deletion | MODERATE | HG01361.hp2 NA19043.hp2 |
a0015 | a0015c0011 | a0015c0011t0002 | a0015c0011t0002g0194 a0015c0011t0002g0195 |
2 | 236 | 0.0085 | -96 | c.692 others(105): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7132/16756 | 6925/16239 | 2309/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784703 | TAGTGACA others(89): Show |
T | conservative_inframe_deletion | MODERATE | HG02486.hp2 HG02647.hp1 HG02723.hp2 others(1): Show |
a0067a0072a0077others(1): Show | a0067c0120a0072c0122a0077c0121others(1): Show | a0067c0120t0006a0072c0122t0007a0077c0121t0007others(1): Show | a0067c0120t0006g0029 a0072c0122t0007g0186 a0077c0121t0007g0185 others(1): Show |
4 | 233 | 0.0172 | -96 | c.678 others(105): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6988/16756 | 6781/16239 | 2261/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195785375 | TAGTGACA others(281): Show |
T | conservative_inframe_deletion | MODERATE | HG01975.hp1 HG02451.hp2 |
a0050a0065 | a0050c0143a0065c0142 | a0050c0143t0004a0065c0142t0004 | a0050c0143t0004g0224 a0065c0142t0004g0223 |
2 | 241 | 0.0083 | -288 | c.591 others(9): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6316/16756 | 5917/16239 | 1973/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195785471 | CGGTGACA others(41): Show |
C | conservative_inframe_deletion | MODERATE | HG01361.hp2 NA19043.hp2 |
a0015 | a0015c0011 | a0015c0011t0002 | a0015c0011t0002g0194 a0015c0011t0002g0195 |
2 | 245 | 0.0082 | -48 | c.606 others(57): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6220/16756 | 6061/16239 | 2021/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195785519 | TGGTGACA others(89): Show |
T | conservative_inframe_deletion | MODERATE | HG03130.hp2 | a0086 | a0086c0156 | a0086c0156t0012 | a0086c0156t0012g0239 | 1 | 238 | 0.0042 | -96 | c.596 others(105): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6172/16756 | 5965/16239 | 1989/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195785849 | AAGCGTCG others(41): Show |
A | conservative_inframe_deletion | MODERATE | HG01891.hp2 HG02717.hp1 |
a0049a0074 | a0049c0159a0074c0137 | a0049c0159t0008a0074c0137t0005 | a0049c0159t0008g0220 a0074c0137t0005g0227 |
2 | 248 | 0.0081 | -48 | c.568 others(57): Show |
p.Asn others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 5842/16756 | 5683/16239 | 1895/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195786647 | GACCTGTG others(41): Show |
G | conservative_inframe_deletion | MODERATE | HG01361.hp2 | a0015 | a0015c0011 | a0015c0011t0002 | a0015c0011t0002g0194 | 1 | 247 | 0.0040 | -48 | c.488 others(57): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 5044/16756 | 4885/16239 | 1629/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787535 | CGGTGACA others(521): Show |
C | conservative_inframe_deletion | MODERATE | NA19074.hp1 | a0117 | a0117c0150 | a0117c0150t0003 | a0117c0150t0003g0215 | 1 | 247 | 0.0040 | -528 | c.351 others(9): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4156/16756 | 3517/16239 | 1173/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195788303 | CAGTGACA others(137): Show |
C | conservative_inframe_deletion | MODERATE | HG01891.hp1 | a0048 | a0048c0040 | a0048c0040t0001 | a0048c0040t0001g0135 | 1 | 248 | 0.0040 | -144 | c.313 others(9): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3388/16756 | 3133/16239 | 1045/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195788495 | CGGTGACA others(41): Show |
C | conservative_inframe_deletion | MODERATE | HG02486.hp2 HG02647.hp1 HG02723.hp2 others(7): Show |
a0010a0067a0072others(5): Show | a0010c0010a0010c0029a0067c0120others(6): Show | a0010c0010t0001a0010c0029t0001a0067c0120t0006others(6): Show | a0010c0010t0001g0121 a0010c0010t0001g0122 a0010c0029t0001g0120 others(7): Show |
10 | 248 | 0.0403 | -48 | c.303 others(57): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3196/16756 | 3037/16239 | 1013/5412 | chr3 | TogoVar | |||
MUC5AC_chr11_1152953_1206138 | 1191269 | CTACTCCC others(89): Show |
C | conservative_inframe_deletion | MODERATE | NA18942.hp2 NA19056.hp2 |
a0055a0061 | a0055c0058a0061c0049 | a0055c0058t0001a0061c0049t0001 | a0055c0058t0001g0193 a0061c0049t0001g0002 |
2 | 234 | 0.0085 | -96 | c.131 others(107): Show |
p.Ser others(15): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 13230/17448 | 13183/16965 | 4395/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
MUC5AC_chr11_1152953_1206138 | 1191750 | CAGCACAA others(65): Show |
C | conservative_inframe_deletion | MODERATE | HG00099.hp1 | a0026 | a0026c0104 | a0026c0104t0001 | a0026c0104t0001g0196 | 1 | 290 | 0.0034 | -72 | c.136 others(83): Show |
p.Ser others(15): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 13677/17448 | 13630/16965 | 4544/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
MUC5B_chr11_1218066_1267172 | 1250071 | AGCAGCCA others(8): Show |
A | conservative_inframe_deletion | MODERATE | HG03704.hp1 | a0117 | a0117c0193 | a0117c0193t0001 | a0117c0193t0001g0137 | 1 | 348 | 0.0029 | -15 | c.132 others(26): Show |
p.Thr others(15): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 13259/17911 | 13201/17289 | 4401/5762 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
MYLK_chr3_123605049_123889332 | 123700269 | GTTC | G | conservative_inframe_deletion | MODERATE | HG00423.hp2 HG00558.hp1 HG00558.hp2 others(18): Show |
a0002a0020a0044 | a0002c0002a0002c0003a0002c0066others(4): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(13): Show | a0002c0002t0002g0058 a0002c0002t0004g0139 a0002c0002t0005g0014 others(18): Show |
21 | 154 | 0.1364 | -3 | c.319 others(12): Show |
p.Glu others(7): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 18/34 | 3510/10113 | 3196/5745 | 1066/1914 | chr3 | TogoVar | |||
MYO15B_chr17_75582800_75631849 | 75589320 | CAAGGGGC others(20): Show |
C | conservative_inframe_deletion | MODERATE | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(40): Show |
a0003a0013a0066others(1): Show | a0003c0008a0003c0024a0003c0025others(29): Show | a0003c0008t0002a0003c0024t0002a0003c0025t0002others(29): Show | a0003c0008t0002g0047 a0003c0008t0002g0065 a0003c0008t0002g0068 others(38): Show |
43 | 382 | 0.1126 | -27 | c.126 others(36): Show |
p.Lys others(13): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 1/64 | 1522/9914 | 1264/9291 | 422/3096 | chr17 | TogoVar | |||
MYO15B_chr17_75582800_75631849 | 75616380 | CAGG | C | conservative_inframe_deletion | MODERATE | HG00741.hp1 HG01081.hp1 HG01361.hp1 others(12): Show |
a0003a0009a0029others(7): Show | a0003c0127a0003c0128a0009c0065others(9): Show | a0003c0127t0002a0003c0128t0002a0009c0065t0001others(9): Show | a0003c0127t0002g0050 a0003c0128t0002g0051 a0009c0065t0001g0279 others(12): Show |
15 | 371 | 0.0404 | -3 | c.621 others(12): Show |
p.Glu others(7): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 38/64 | 6469/9914 | 6211/9291 | 2071/3096 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |