| 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 | 195781535 | CGGTGACA others(41): Show |
C | conservative_inframe_deletion | MODERATE | NA18999.hp1 | a0043 | a0043c0160 | a0043c0160t0002 | a0043c0160t0002g0042 | 1 | 249 | 0.0040 | -48 | c.999 others(58): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 10156/16756 | 9997/16239 | 3333/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195781619 | CTGAGGAA others(89): Show |
C | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00738.hp2 HG01106.hp2 others(4): Show |
a0026a0034a0035others(3): Show | a0026c0009a0034c0152a0035c0151others(3): Show | a0026c0009t0002a0034c0152t0014a0035c0151t0007others(3): Show | a0026c0009t0002g0112a0026c0009t0002g0192a0034c0152t0014g0185others(4): Show | 7 | 249 | 0.0281 | -96 | c.986 others(105): Show |
p.Ser others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 10072/16756 | 9865/16239 | 3289/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195781655 | GACCTGTG others(41): Show |
G | conservative_inframe_deletion | MODERATE | HG01884.hp1 HG02976.hp1 |
a0070a0073 | a0070c0174a0073c0176 | a0070c0174t0002a0073c0176t0005 | a0070c0174t0002g0211a0073c0176t0005g0228 | 2 | 249 | 0.0080 | -48 | c.987 others(57): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 10036/16756 | 9877/16239 | 3293/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195782255 | TAGTGACA others(185): Show |
T | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(4): Show |
a0026a0175a0178others(3): Show | a0026c0009a0175c0031a0178c0034others(3): Show | a0026c0009t0002a0175c0031t0001a0178c0034t0002others(3): Show | a0026c0009t0002g0112a0026c0009t0002g0192a0175c0031t0001g0190others(4): Show | 7 | 249 | 0.0281 | -192 | c.913 others(9): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 9436/16756 | 9133/16239 | 3045/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195782255 | TAGTGACA others(329): Show |
T | conservative_inframe_deletion | MODERATE | HG02486.hp2 HG02647.hp1 HG03209.hp1 |
a0034a0035a0037 | a0034c0152a0035c0151a0037c0149 | a0034c0152t0014a0035c0151t0007a0037c0149t0006 | a0034c0152t0014g0185a0035c0151t0007g0186a0037c0149t0006g0079 | 3 | 249 | 0.0121 | -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 |
a0176a0177 | a0176c0037a0177c0035 | a0176c0037t0002a0177c0035t0002 | a0176c0037t0002g0197a0177c0035t0002g0196 | 2 | 249 | 0.0080 | -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 |
a0007a0014a0015others(18): Show | a0007c0007a0014c0022a0015c0023others(18): Show | a0007c0007t0003a0014c0022t0004a0015c0023t0003others(18): Show | a0007c0007t0003g0152a0007c0007t0003g0154a0007c0007t0003g0209others(23): Show | 26 | 249 | 0.1044 | -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 | a0072 | a0072c0173 | a0072c0173t0004 | a0072c0173t0004g0225 | 1 | 249 | 0.0040 | -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 |
a0176a0177 | a0176c0037a0177c0035 | a0176c0037t0002a0177c0035t0002 | a0176c0037t0002g0197a0177c0035t0002g0196 | 2 | 249 | 0.0080 | -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 |
a0069a0071 | a0069c0172a0071c0175 | a0069c0172t0005a0071c0175t0005 | a0069c0172t0005g0230a0071c0175t0005g0227 | 2 | 249 | 0.0080 | -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 |
a0123a0171 | a0123c0059a0171c0111 | a0123c0059t0001a0171c0111t0001 | a0123c0059t0001g0115a0171c0111t0001g0051 | 2 | 249 | 0.0080 | -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 | a0105 | a0105c0124 | a0105c0124t0003 | a0105c0124t0003g0116 | 1 | 249 | 0.0040 | -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 |
a0035a0036a0037 | a0035c0151a0036c0150a0037c0149 | a0035c0151t0007a0036c0150t0007a0037c0149t0006 | a0035c0151t0007g0186a0036c0150t0007g0189a0037c0149t0006g0079 | 3 | 249 | 0.0121 | -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 | a0034 | a0034c0152 | a0034c0152t0014 | a0034c0152t0014g0185 | 1 | 249 | 0.0040 | -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 |
a0176a0177 | a0176c0037a0177c0035 | a0176c0037t0002a0177c0035t0002 | a0176c0037t0002g0197a0177c0035t0002g0196 | 2 | 249 | 0.0080 | -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 |
a0026a0175a0179others(2): Show | a0026c0009a0175c0031a0179c0032others(2): Show | a0026c0009t0002a0175c0031t0001a0179c0032t0002others(2): Show | a0026c0009t0002g0112a0026c0009t0002g0192a0175c0031t0001g0190others(3): Show | 6 | 249 | 0.0241 | -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 | a0061 | a0061c0198 | a0061c0198t0008 | a0061c0198t0008g0222 | 1 | 249 | 0.0040 | -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 |
a0046a0052 | a0046c0164a0052c0140 | a0046c0164t0002a0052c0140t0002 | a0046c0164t0002g0046a0052c0140t0002g0062 | 2 | 249 | 0.0080 | -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 |
a0060a0062a0067 | a0060c0199a0062c0197a0067c0194 | a0060c0199t0009a0062c0197t0009a0067c0194t0012 | a0060c0199t0009g0224a0062c0197t0009g0243a0067c0194t0012g0239 | 3 | 249 | 0.0121 | -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 |
a0039a0040a0077others(3): Show | a0039c0162a0040c0154a0077c0169others(3): Show | a0039c0162t0002a0040c0154t0006a0077c0169t0013others(3): Show | a0039c0162t0002g0166a0040c0154t0006g0030a0077c0169t0013g0184others(3): Show | 6 | 249 | 0.0241 | -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 |
a0082a0083 | a0082c0191a0083c0190 | a0082c0191t0005a0083c0190t0004 | a0082c0191t0005g0244a0083c0190t0004g0241 | 2 | 249 | 0.0080 | -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 | a0037 | a0037c0149 | a0037c0149t0006 | a0037c0149t0006g0079 | 1 | 249 | 0.0040 | -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 | a0034 | a0034c0152 | a0034c0152t0014 | a0034c0152t0014g0185 | 1 | 249 | 0.0040 | -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 |
a0001a0003a0006others(17): Show | a0001c0001a0001c0157a0001c0158others(20): Show | a0001c0001t0002a0001c0157t0002a0001c0158t0006others(20): Show | a0001c0001t0002g0001a0001c0001t0002g0028a0001c0001t0002g0029others(40): Show | 44 | 249 | 0.1767 | -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 |
a0066a0068 | a0066c0177a0068c0171 | a0066c0177t0004a0068c0171t0005 | a0066c0177t0004g0226a0068c0171t0005g0229 | 2 | 249 | 0.0080 | -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 | a0063 | a0063c0165 | a0063c0165t0002 | a0063c0165t0002g0027 | 1 | 249 | 0.0040 | -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 | a0046 | a0046c0164 | a0046c0164t0002 | a0046c0164t0002g0046 | 1 | 249 | 0.0040 | -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 |
a0026a0071a0175others(3): Show | a0026c0009a0071c0175a0175c0031others(3): Show | a0026c0009t0002a0071c0175t0005a0175c0031t0001others(3): Show | a0026c0009t0002g0112a0026c0009t0002g0192a0071c0175t0005g0227others(4): Show | 7 | 249 | 0.0281 | -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 | a0105 | a0105c0124 | a0105c0124t0003 | a0105c0124t0003g0116 | 1 | 249 | 0.0040 | -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 | a0039 | a0039c0162 | a0039c0162t0002 | a0039c0162t0002g0166 | 1 | 249 | 0.0040 | -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 |
a0024 | a0024c0012 | a0024c0012t0001 | a0024c0012t0001g0114a0024c0012t0001g0156 | 2 | 249 | 0.0080 | -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 |
a0070a0073a0080 | a0070c0174a0073c0176a0080c0170 | a0070c0174t0002a0073c0176t0005a0080c0170t0005 | a0070c0174t0002g0211a0073c0176t0005g0228a0080c0170t0005g0240 | 3 | 249 | 0.0121 | -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 |
a0026a0175a0179others(2): Show | a0026c0009a0175c0031a0179c0032others(2): Show | a0026c0009t0002a0175c0031t0001a0179c0032t0002others(2): Show | a0026c0009t0002g0112a0026c0009t0002g0192a0175c0031t0001g0190others(3): Show | 6 | 249 | 0.0241 | -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 | a0062 | a0062c0197 | a0062c0197t0009 | a0062c0197t0009g0243 | 1 | 249 | 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 |
a0052a0176a0177 | a0052c0140a0176c0037a0177c0035 | a0052c0140t0002a0176c0037t0002a0177c0035t0002 | a0052c0140t0002g0062a0176c0037t0002g0197a0177c0035t0002g0196 | 3 | 249 | 0.0121 | -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 | a0060c0199 | a0060c0199t0009 | a0060c0199t0009g0224 | 1 | 249 | 0.0040 | -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 | a0059 | a0059c0201 | a0059c0201t0009 | a0059c0201t0009g0237 | 1 | 249 | 0.0040 | -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 |
a0066a0068a0105 | a0066c0177a0068c0171a0105c0124 | a0066c0177t0004a0068c0171t0005a0105c0124t0003 | a0066c0177t0004g0226a0068c0171t0005g0229a0105c0124t0003g0116 | 3 | 249 | 0.0121 | -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 |
a0176a0177 | a0176c0037a0177c0035 | a0176c0037t0002a0177c0035t0002 | a0176c0037t0002g0197a0177c0035t0002g0196 | 2 | 249 | 0.0080 | -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 |
a0034a0035a0036others(1): Show | a0034c0152a0035c0151a0036c0150others(1): Show | a0034c0152t0014a0035c0151t0007a0036c0150t0007others(1): Show | a0034c0152t0014g0185a0035c0151t0007g0186a0036c0150t0007g0189others(1): Show | 4 | 249 | 0.0161 | -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 |
a0066a0072 | a0066c0177a0072c0173 | a0066c0177t0004a0072c0173t0004 | a0066c0177t0004g0226a0072c0173t0004g0225 | 2 | 249 | 0.0080 | -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 |
a0176a0177 | a0176c0037a0177c0035 | a0176c0037t0002a0177c0035t0002 | a0176c0037t0002g0197a0177c0035t0002g0196 | 2 | 249 | 0.0080 | -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 | a0067 | a0067c0194 | a0067c0194t0012 | a0067c0194t0012g0239 | 1 | 249 | 0.0040 | -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 |
a0061a0068 | a0061c0198a0068c0171 | a0061c0198t0008a0068c0171t0005 | a0061c0198t0008g0222a0068c0171t0005g0229 | 2 | 249 | 0.0080 | -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 | a0176 | a0176c0037 | a0176c0037t0002 | a0176c0037t0002g0197 | 1 | 249 | 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 | a0085 | a0085c0188 | a0085c0188t0003 | a0085c0188t0003g0218 | 1 | 249 | 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 | a0107 | a0107c0041 | a0107c0041t0001 | a0107c0041t0001g0179 | 1 | 249 | 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 |
a0011a0034a0035others(5): Show | a0011c0008a0011c0028a0034c0152others(6): Show | a0011c0008t0001a0011c0028t0001a0034c0152t0014others(6): Show | a0011c0008t0001g0058a0011c0008t0001g0059a0011c0028t0001g0057others(7): Show | 10 | 249 | 0.0402 | -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 |
a0039a0061 | a0039c0049a0061c0058 | a0039c0049t0001a0061c0058t0001 | a0039c0049t0001g0001a0061c0058t0001g0222 | 2 | 292 | 0.0069 | -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 | a0068 | a0068c0103 | a0068c0103t0001 | a0068c0103t0001g0225 | 1 | 292 | 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 |