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updated Demo expected results for exponentials coefficient change
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| Original file line number | Diff line number | Diff line change |
|---|---|---|
| @@ -1,27 +1,49 @@ | ||
| Cluster Gene/Drug Mutation/Gene Degree_Connectivity Exponentials_Score Geodesic_From_Centroid Weight Chromosome Start Stop Reference Alternate Transcript Alternative_Transcripts | ||
| 0.0 SMAD4 p.C499Y 3 1.16908570802571 0 6 18 48604674 48604674 G A ENST00000342988 ENST00000398417:p.C499Y|ENST00000588745:p.C403Y | ||
| 0.0 SMAD4 p.L533R 13 0.981088765229413 5.515 3 18 48604776 48604776 T G ENST00000342988 ENST00000398417:p.L533R|ENST00000588745:p.L437R | ||
| 0.0 SMAD4 p.R496H 5 1.03983373944558 6.3805 4 18 48604665 48604665 G A ENST00000342988 ENST00000398417:p.R496H|ENST00000588745:p.R400H | ||
| 0.1 SMAD3 p.C320Y 6 0.919675174972574 8.626 11 15 67477152 67477152 G A ENST00000327367 ENST00000439724:p.C276Y|ENST00000537194:p.C125Y|ENST00000540846:p.C215Y|ENST00000560424:p.V14I | ||
| 0.1 SMAD3 p.G325D 3 0.939939825266249 0 11 15 67477167 67477167 G A ENST00000327367 ENST00000439724:p.G281D|ENST00000537194:p.G130D|ENST00000540846:p.G220D|ENST00000560424:p.A19T | ||
| 0.1 SMAD3 p.R323H 4 0.863466320870942 8.032 12 15 67477161 67477161 G A ENST00000327367 ENST00000439724:p.R279H|ENST00000537194:p.R128H|ENST00000540846:p.R218H|ENST00000560424:p.A17T | ||
| 0.2 SMAD2 p.P305L 12 -0.296243722345417 9.525 -10 18 45374929 45374929 G A ENST00000262160 ENST00000356825:p.P275L|ENST00000402690:p.P305L|ENST00000586040:p.P275L|ENST00000591214:p.P275L | ||
| 0.2 SMAD2 p.P305Q 12 -0.296243722345417 9.525 -13 18 45374929 45374929 G T ENST00000262160 ENST00000356825:p.P275Q|ENST00000402690:p.P305Q|ENST00000586040:p.P275Q|ENST00000591214:p.P275Q | ||
| 0.2 SMAD4 p.D355G 14 0.0855389630387233 9.78566666666667 -4 18 48591901 48591901 A G ENST00000342988 ENST00000398417:p.D355G|ENST00000588745:p.D259G | ||
| 0.2 SMAD4 p.P356L 17 0.212765174701278 9.754 -18 18 48591904 48591904 C T ENST00000342988 ENST00000398417:p.P356L|ENST00000588745:p.P260L | ||
| 0.2 SMAD4 p.R531Q 5 0.808640973449221 0 2 18 48604770 48604770 G A ENST00000342988 ENST00000398417:p.R531Q|ENST00000588745:p.R435Q | ||
| 0.3 SMAD4 p.C324R 4 0.750609781489441 0 2 18 48591807 48591807 T C ENST00000342988 ENST00000398417:p.C324R|ENST00000588745:p.C228R | ||
| 1.0 SMAD2 p.G421W 3 0.292512240488933 7.85733333333333 17 18 45371730 45371730 C A ENST00000262160 ENST00000356825:p.G391W|ENST00000402690:p.G421W|ENST00000586040:p.G391W|ENST00000591214:p.G391W | ||
| 1.0 SMAD2 p.R427Q 2 0.638489895278524 0 9 18 45371711 45371711 C T ENST00000262160 ENST00000356825:p.R397Q|ENST00000402690:p.R427Q|ENST00000586040:p.R397Q|ENST00000591214:p.R397Q | ||
| 1.1 SMAD2 p.F356C 2 -0.271103434056128 0 -7 18 45372102 45372102 A C ENST00000262160 ENST00000356825:p.F326C|ENST00000402690:p.F356C|ENST00000586040:p.F326C|ENST00000591214:p.F326C | ||
| 2.0 SMAD2 p.Q407E 2 -0.879168169936484 0 -18 18 45371772 45371772 G C ENST00000262160 ENST00000356825:p.Q377E|ENST00000402690:p.Q407E|ENST00000586040:p.Q377E|ENST00000591214:p.Q377E | ||
| 2.0 SMAD2 p.S397F 3 -1.32402344220386 8.963 -8 18 45371801 45371801 G A ENST00000262160 ENST00000356825:p.S367F|ENST00000402690:p.S397F|ENST00000586040:p.S367F|ENST00000591214:p.S367F | ||
| 2.1 SMAD2 p.V398A 2 -1.2914349790785 0 -6 18 45371798 45371798 A G ENST00000262160 ENST00000356825:p.V368A|ENST00000402690:p.V398A|ENST00000586040:p.V368A|ENST00000591214:p.V368A | ||
| 3.0 SMAD3 p.Q23R 2 -0.253291248195851 8.746 -8 15 67358560 67358560 A G ENST00000327367 - | ||
| 3.0 SMAD3 p.Q26H 2 0.720457237033846 0 0 15 67358570 67358570 G T ENST00000327367 | ||
| 4.0 SMAD3 p.L91P 2 -0.516719347310039 8.391 -5 15 67457298 67457298 T C ENST00000327367 ENST00000439724:p.L47P|ENST00000559092:p.C73R | ||
| 4.0 SMAD3 p.R93Q 2 0.270011434953025 0 10 15 67457304 67457304 G A ENST00000327367 ENST00000439724:p.R49Q|ENST00000559092:p.D75N | ||
| 6.0 SMAD3 p.R420H 3 -1.40869407672404 0 -15 15 67482855 67482855 G A ENST00000327367 ENST00000439724:p.R376H|ENST00000537194:p.R225H|ENST00000540846:p.R315H|ENST00000560424:p.A151T | ||
| 6.0 SMAD3 p.S416F 3 -1.60292498502272 9.259 -7 15 67482843 67482843 C T ENST00000327367 ENST00000439724:p.S372F|ENST00000537194:p.S221F|ENST00000540846:p.S311F|ENST00000560424:p.P147S | ||
| 6.0 SMAD3 p.S418I 3 -1.94449837501548 7.11 -1 15 67482849 67482849 G T ENST00000327367 ENST00000439724:p.S374I|ENST00000537194:p.S223I|ENST00000540846:p.S313I|ENST00000560424:p.A149S | ||
| 6.0 SMAD3 p.S418N 3 -1.94449837501548 7.11 -19 15 67482849 67482849 G A ENST00000327367 ENST00000439724:p.S374N|ENST00000537194:p.S223N|ENST00000540846:p.S313N|ENST00000560424:p.A149T | ||
| 0.0 SMAD2 p.D300N 8 338.728486956113 8.973 -2 18 45374945 45374945 C T ENST00000262160 ENST00000356825:p.D270N|ENST00000402690:p.D300N|ENST00000586040:p.D270N|ENST00000591214:p.D270N | ||
| 0.0 SMAD2 p.D304G 12 402.425886960928 5.579 -19 18 45374932 45374932 T C ENST00000262160 ENST00000356825:p.D274G|ENST00000402690:p.D304G|ENST00000586040:p.D274G|ENST00000591214:p.D274G | ||
| 0.0 SMAD2 p.G301V 10 355.773866381305 8.554 4 18 45374941 45374941 C A ENST00000262160 ENST00000356825:p.G271V|ENST00000402690:p.G301V|ENST00000586040:p.G271V|ENST00000591214:p.G271V | ||
| 0.0 SMAD2 p.P305L 12 343.773215651067 8.709 -10 18 45374929 45374929 G A ENST00000262160 ENST00000356825:p.P275L|ENST00000402690:p.P305L|ENST00000586040:p.P275L|ENST00000591214:p.P275L | ||
| 0.0 SMAD2 p.P305Q 12 343.773215651067 8.709 -13 18 45374929 45374929 G T ENST00000262160 ENST00000356825:p.P275Q|ENST00000402690:p.P305Q|ENST00000586040:p.P275Q|ENST00000591214:p.P275Q | ||
| 0.0 SMAD3 p.R268C 7 281.026897797364 7.954 -5 15 67473722 67473722 C T ENST00000327367 ENST00000439724:p.R224C|ENST00000537194:p.R73C|ENST00000540846:p.R163C|ENST00000558428:p.R73C|ENST00000558827:p.R73C|ENST00000558894:p.R163C | ||
| 0.0 SMAD3 p.R268H 7 281.026897797364 7.954 5 15 67473723 67473723 G A ENST00000327367 ENST00000439724:p.R224H|ENST00000537194:p.R73H|ENST00000540846:p.R163H|ENST00000558428:p.R73H|ENST00000558827:p.R73H|ENST00000558894:p.R163H | ||
| 0.0 SMAD4 p.D355G 14 436.173362801756 5.665 -4 18 48591901 48591901 A G ENST00000342988 ENST00000398417:p.D355G|ENST00000588745:p.D259G | ||
| 0.0 SMAD4 p.D537E 15 487.411152390803 0 10 18 48604789 48604789 C A ENST00000342988 ENST00000398417:p.D537E|ENST00000588745:p.D441E | ||
| 0.0 SMAD4 p.D537G 15 487.411152390803 0 10 18 48604788 48604788 A G ENST00000342988 ENST00000398417:p.D537G|ENST00000588745:p.D441G | ||
| 0.0 SMAD4 p.D537V 15 487.411152390803 0 -6 18 48604788 48604788 A T ENST00000342988 ENST00000398417:p.D537V|ENST00000588745:p.D441V | ||
| 0.0 SMAD4 p.D537Y 15 487.411152390803 0 14 18 48604787 48604787 G T ENST00000342988 ENST00000398417:p.D537Y|ENST00000588745:p.D441Y | ||
| 0.0 SMAD4 p.L533R 13 394.489456789217 7.155 3 18 48604776 48604776 T G ENST00000342988 ENST00000398417:p.L533R|ENST00000588745:p.L437R | ||
| 0.0 SMAD4 p.P356L 17 375.189579670895 9.057 -18 18 48591904 48591904 C T ENST00000342988 ENST00000398417:p.P356L|ENST00000588745:p.P260L | ||
| 0.0 SMAD4 p.R361C 11 381.375300754182 8.514 0 18 48591918 48591918 C T ENST00000342988 ENST00000398417:p.R361C|ENST00000588745:p.R265C | ||
| 0.0 SMAD4 p.R361H 11 381.375300754182 8.514 8 18 48591919 48591919 G A ENST00000342988 ENST00000398417:p.R361H|ENST00000588745:p.R265H | ||
| 0.0 SMAD4 p.R361P 11 381.375300754182 8.514 -1 18 48591919 48591919 G C ENST00000342988 ENST00000398417:p.R361P|ENST00000588745:p.R265P | ||
| 0.0 SMAD4 p.R361S 11 381.375300754182 8.514 -7 18 48591918 48591918 C A ENST00000342988 ENST00000398417:p.R361S|ENST00000588745:p.R265S | ||
| 0.0 SMAD4 p.RFCLG361in_frame_del 11 381.375300754182 8.514 4 18 48591917 48591931 TCGCTTTTGTTTGGG - ENST00000342988 ENST00000398417:p.RFCLG361in_frame_del|ENST00000588745:p.RFCLG265in_frame_del | ||
| 0.1 SMAD2 p.D450N 11 336.793326523117 9.491 -3 18 45368254 45368254 C T ENST00000262160 ENST00000356825:p.D420N|ENST00000402690:p.D450N|ENST00000586040:p.D420N | ||
| 0.1 SMAD2 p.L446V 7 323.556587674178 8.997 14 18 45368266 45368266 G C ENST00000262160 ENST00000356825:p.L416V|ENST00000402690:p.L446V|ENST00000586040:p.L416V | ||
| 0.1 SMAD3 p.Q405L 9 299.454636086796 6.928 -3 15 67482810 67482810 A T ENST00000327367 ENST00000439724:p.Q361L|ENST00000537194:p.Q210L|ENST00000540846:p.Q300L|ENST00000560424:p.S136C | ||
| 0.1 SMAD4 p.S357P 10 337.598614761853 0 5 18 48591906 48591906 T C ENST00000342988 ENST00000398417:p.S357P|ENST00000588745:p.S261P | ||
| 0.2 SMAD2 p.R321Q 6 241.348233788163 9.377 11 18 45374881 45374881 C T ENST00000262160 ENST00000356825:p.R291Q|ENST00000402690:p.R321Q|ENST00000586040:p.R291Q|ENST00000591214:p.R291Q | ||
| 0.2 SMAD4 p.C499Y 3 282.363731326423 6.3805 6 18 48604674 48604674 G A ENST00000342988 ENST00000398417:p.C499Y|ENST00000588745:p.C403Y | ||
| 0.2 SMAD4 p.D493N 7 274.709931091678 4.81 -1 18 48604655 48604655 G A ENST00000342988 ENST00000398417:p.D493N|ENST00000588745:p.D397N | ||
| 0.2 SMAD4 p.R496H 5 287.442378105007 0 4 18 48604665 48604665 G A ENST00000342988 ENST00000398417:p.R496H|ENST00000588745:p.R400H | ||
| 0.3 SMAD2 p.F311L 7 256.755478395373 0 8 18 45374910 45374910 G C ENST00000262160 ENST00000356825:p.F281L|ENST00000402690:p.F311L|ENST00000586040:p.F281L|ENST00000591214:p.F281L | ||
| 0.3 SMAD2 p.N307H 5 247.382274489859 8.89166666666667 -10 18 45374924 45374924 T G ENST00000262160 ENST00000356825:p.N277H|ENST00000402690:p.N307H|ENST00000586040:p.N277H|ENST00000591214:p.N277H | ||
| 0.3 SMAD2 p.S276L 4 203.396341822486 9.8825 -1 18 45375016 45375016 G A ENST00000262160 ENST00000356825:p.S246L|ENST00000402690:p.S276L|ENST00000586040:p.S246L|ENST00000591214:p.S246L | ||
| 0.4 SMAD2 p.A323V 5 169.796907120626 9.49933333333333 -18 18 45374875 45374875 G A ENST00000262160 ENST00000356825:p.A293V|ENST00000402690:p.A323V|ENST00000586040:p.A293V|ENST00000591214:p.A293V | ||
| 0.4 SMAD2 p.M327I 5 195.2429484263 5.49333333333333 -8 18 45374862 45374862 C G ENST00000262160 ENST00000356825:p.M297I|ENST00000402690:p.M327I|ENST00000586040:p.M297I|ENST00000591214:p.M297I | ||
| 0.4 SMAD2 p.R330M 5 245.956956857437 0 14 18 45374854 45374854 C A ENST00000262160 ENST00000356825:p.R300M|ENST00000402690:p.R330M|ENST00000586040:p.R300M|ENST00000591214:p.R300M | ||
| 0.5 SMAD2 p.G335E 3 245.484719634469 0 14 18 45372165 45372165 C T ENST00000262160 ENST00000356825:p.G305E|ENST00000402690:p.G335E|ENST00000586040:p.G305E|ENST00000591214:p.G305E | ||
| 1.0 SMAD2 p.F356C 2 86.5021334237396 5.04433333333333 -7 18 45372102 45372102 A C ENST00000262160 ENST00000356825:p.F326C|ENST00000402690:p.F356C|ENST00000586040:p.F326C|ENST00000591214:p.F326C | ||
| 1.0 SMAD2 p.G421W 3 122.347599932088 0 17 18 45371730 45371730 C A ENST00000262160 ENST00000356825:p.G391W|ENST00000402690:p.G421W|ENST00000586040:p.G391W|ENST00000591214:p.G391W | ||
| 1.0 SMAD2 p.R427Q 2 93.0395595338417 7.85733333333333 9 18 45371711 45371711 C T ENST00000262160 ENST00000356825:p.R397Q|ENST00000402690:p.R427Q|ENST00000586040:p.R397Q|ENST00000591214:p.R397Q | ||
| 2.0 SMAD2 p.Q407E 2 20.7335044391226 8.963 -18 18 45371772 45371772 G C ENST00000262160 ENST00000356825:p.Q377E|ENST00000402690:p.Q407E|ENST00000586040:p.Q377E|ENST00000591214:p.Q377E | ||
| 2.0 SMAD2 p.S397F 3 35.737059929509 0 -8 18 45371801 45371801 G A ENST00000262160 ENST00000356825:p.S367F|ENST00000402690:p.S397F|ENST00000586040:p.S367F|ENST00000591214:p.S367F | ||
| 2.0 SMAD2 p.V398A 2 35.0003504411155 4.17866666666667 -6 18 45371798 45371798 A G ENST00000262160 ENST00000356825:p.V368A|ENST00000402690:p.V398A|ENST00000586040:p.V368A|ENST00000591214:p.V368A | ||
| 3.0 SMAD3 p.Q23R 2 28.1513258239721 8.746 -8 15 67358560 67358560 A G ENST00000327367 - | ||
| 3.0 SMAD3 p.Q26H 2 29.0877401831856 0 0 15 67358570 67358570 G T ENST00000327367 | ||
| 4.0 SMAD3 p.L91P 2 42.6291540036077 8.391 -5 15 67457298 67457298 T C ENST00000327367 ENST00000439724:p.L47P|ENST00000559092:p.C73R | ||
| 4.0 SMAD3 p.R93Q 2 59.9875818534749 0 10 15 67457304 67457304 G A ENST00000327367 ENST00000439724:p.R49Q|ENST00000559092:p.D75N | ||
| 6.0 SMAD3 p.R420H 3 33.4394332743089 7.11 -15 15 67482855 67482855 G A ENST00000327367 ENST00000439724:p.R376H|ENST00000537194:p.R225H|ENST00000540846:p.R315H|ENST00000560424:p.A151T | ||
| 6.0 SMAD3 p.S416F 3 38.8221107113789 6.321 -7 15 67482843 67482843 C T ENST00000327367 ENST00000439724:p.S372F|ENST00000537194:p.S221F|ENST00000540846:p.S311F|ENST00000560424:p.P147S | ||
| 6.0 SMAD3 p.S418I 3 42.9942398011554 0 -1 15 67482849 67482849 G T ENST00000327367 ENST00000439724:p.S374I|ENST00000537194:p.S223I|ENST00000540846:p.S313I|ENST00000560424:p.A149S | ||
| 6.0 SMAD3 p.S418N 3 42.9942398011554 0 -19 15 67482849 67482849 G A ENST00000327367 ENST00000439724:p.S374N|ENST00000537194:p.S223N|ENST00000540846:p.S313N|ENST00000560424:p.A149T |
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| Original file line number | Diff line number | Diff line change |
|---|---|---|
| @@ -1,12 +1,13 @@ | ||
| Cluster_ID Centroid Cluster_Exponentials_Score Recurrence_Mass Avg_Exponentials Avg_Recurrence Avg_Degree Avg_Geodesic N_Genes N_Vertices N_Genomic_Mutations N_Protein_Mutations N_Protein_Sites N_Protein_Positions N_Drugs Genes Transcripts Genomic_Mutations Protein_Mutations Protein_Sites Protein_Positions Drugs | ||
| 0.0 SMAD4:p.C499Y 3.190 3 1.063 1.000 7.000 3.965 1 3 3 3 NA 3 NA SMAD4(3) ENST00000342988(3) SMAD4:18:48604665:48604665:G:A,SMAD4:18:48604674:48604674:G:A,SMAD4:18:48604776:48604776:T:G SMAD4:p.C499Y,SMAD4:p.L533R,SMAD4:p.R496H NA 496,499,533 NA | ||
| 0.1 SMAD3:p.G325D 2.723 3 0.908 1.000 4.333 5.553 1 3 3 3 NA 3 NA SMAD3(3) ENST00000327367(3) SMAD3:15:67477152:67477152:G:A,SMAD3:15:67477161:67477161:G:A,SMAD3:15:67477167:67477167:G:A SMAD3:p.C320Y,SMAD3:p.G325D,SMAD3:p.R323H NA 320,323,325 NA | ||
| 0.2 SMAD4:p.R531Q 0.514 5 0.103 1.000 12.000 7.718 2 5 5 5 NA 4 NA SMAD2(2),SMAD4(3) ENST00000262160(2),ENST00000342988(3) SMAD2:18:45374929:45374929:G:A,SMAD2:18:45374929:45374929:G:T,SMAD4:18:48591901:48591901:A:G,SMAD4:18:48591904:48591904:C:T,SMAD4:18:48604770:48604770:G:A SMAD2:p.P305L,SMAD2:p.P305Q,SMAD4:p.D355G,SMAD4:p.P356L,SMAD4:p.R531Q NA 305,355,356,531 NA | ||
| 0.3 SMAD4:p.C324R 0.751 1 0.751 1.000 4.000 0.000 1 1 1 1 NA 1 NA SMAD4(1) ENST00000342988(1) SMAD4:18:48591807:48591807:T:C SMAD4:p.C324R NA 324 NA | ||
| 1.0 SMAD2:p.R427Q 0.931 2 0.466 1.000 2.500 3.929 1 2 2 2 NA 2 NA SMAD2(2) ENST00000262160(2) SMAD2:18:45371711:45371711:C:T,SMAD2:18:45371730:45371730:C:A SMAD2:p.G421W,SMAD2:p.R427Q NA 421,427 NA | ||
| 1.1 SMAD2:p.F356C -0.271 1 -0.271 1.000 2.000 0.000 1 1 1 1 NA 1 NA SMAD2(1) ENST00000262160(1) SMAD2:18:45372102:45372102:A:C SMAD2:p.F356C NA 356 NA | ||
| 0.0 SMAD4:p.D537Y 98.530 19 5.186 1.000 11.947 6.362 3 19 19 19 NA 10 NA SMAD2(5),SMAD3(2),SMAD4(12) ENST00000262160(5),ENST00000327367(2),ENST00000342988(12) SMAD2:18:45374929:45374929:G:A,SMAD2:18:45374929:45374929:G:T,SMAD2:18:45374932:45374932:T:C,SMAD2:18:45374941:45374941:C:A,SMAD2:18:45374945:45374945:C:T,SMAD3:15:67473722:67473722:C:T,SMAD3:15:67473723:67473723:G:A,SMAD4:18:48591901:48591901:A:G,SMAD4:18:48591904:48591904:C:T,SMAD4:18:48591917:48591931:TCGCTTTTGTTTGGG:-,SMAD4:18:48591918:48591918:C:A,SMAD4:18:48591918:48591918:C:T,SMAD4:18:48591919:48591919:G:A,SMAD4:18:48591919:48591919:G:C,SMAD4:18:48604776:48604776:T:G,SMAD4:18:48604787:48604787:G:T,SMAD4:18:48604788:48604788:A:G,SMAD4:18:48604788:48604788:A:T,SMAD4:18:48604789:48604789:C:A SMAD2:p.D300N,SMAD2:p.D304G,SMAD2:p.G301V,SMAD2:p.P305L,SMAD2:p.P305Q,SMAD3:p.R268C,SMAD3:p.R268H,SMAD4:p.D355G,SMAD4:p.D537E,SMAD4:p.D537G,SMAD4:p.D537V,SMAD4:p.D537Y,SMAD4:p.L533R,SMAD4:p.P356L,SMAD4:p.R361C,SMAD4:p.R361H,SMAD4:p.R361P,SMAD4:p.R361S,SMAD4:p.RFCLG361in_frame_del NA 268,300,301,304,305,355,356,361,533,537 NA | ||
| 0.1 SMAD4:p.R496H 18.187 4 4.547 1.000 5.250 5.142 2 4 4 4 NA 4 NA SMAD2(1),SMAD4(3) ENST00000262160(1),ENST00000342988(3) SMAD2:18:45374881:45374881:C:T,SMAD4:18:48604655:48604655:G:A,SMAD4:18:48604665:48604665:G:A,SMAD4:18:48604674:48604674:G:A SMAD2:p.R321Q,SMAD4:p.C499Y,SMAD4:p.D493N,SMAD4:p.R496H NA 321,493,496,499 NA | ||
| 0.2 SMAD3:p.A329S 16.344 4 4.086 1.000 4.750 6.164 1 4 4 4 NA 4 NA SMAD3(4) ENST00000327367(4) SMAD3:15:67477152:67477152:G:A,SMAD3:15:67477178:67477178:G:T,SMAD3:15:67477184:67477184:G:A,SMAD3:15:67479838:67479838:C:T SMAD3:p.A329S,SMAD3:p.A382V,SMAD3:p.C320Y,SMAD3:p.V331I NA 320,329,331,382 NA | ||
| 0.3 SMAD4:p.S357P 14.364 4 3.591 1.000 9.250 6.354 3 4 4 4 NA 4 NA SMAD2(2),SMAD3(1),SMAD4(1) ENST00000262160(2),ENST00000327367(1),ENST00000342988(1) SMAD2:18:45368254:45368254:C:T,SMAD2:18:45368266:45368266:G:C,SMAD3:15:67482810:67482810:A:T,SMAD4:18:48591906:48591906:T:C SMAD2:p.D450N,SMAD2:p.L446V,SMAD3:p.Q405L,SMAD4:p.S357P NA 357,405,446,450 NA | ||
| 0.4 SMAD4:p.S504R 14.644 4 3.661 1.000 3.500 6.041 1 4 4 4 NA 4 NA SMAD4(4) ENST00000342988(4) SMAD4:18:48593465:48593465:G:A,SMAD4:18:48593532:48593532:A:C,SMAD4:18:48604690:48604690:T:A,SMAD4:18:48604750:48604750:G:T SMAD4:p.A406T,SMAD4:p.K428T,SMAD4:p.S504R,SMAD4:p.W524C NA 406,428,504,524 NA | ||
| 0.5 SMAD2:p.G335E 4.150 1 4.150 1.000 3.000 0.000 1 1 1 1 NA 1 NA SMAD2(1) ENST00000262160(1) SMAD2:18:45372165:45372165:C:T SMAD2:p.G335E NA 335 NA | ||
| 1.0 SMAD2:p.G421W 6.209 3 2.070 1.000 2.333 4.301 1 3 3 3 NA 3 NA SMAD2(3) ENST00000262160(3) SMAD2:18:45371711:45371711:C:T,SMAD2:18:45371730:45371730:C:A,SMAD2:18:45372102:45372102:A:C SMAD2:p.F356C,SMAD2:p.G421W,SMAD2:p.R427Q NA 356,421,427 NA | ||
| 2.0 SMAD2:p.Q407E -2.203 2 -1.102 1.000 2.500 4.481 1 2 2 2 NA 2 NA SMAD2(2) ENST00000262160(2) SMAD2:18:45371772:45371772:G:C,SMAD2:18:45371801:45371801:G:A SMAD2:p.Q407E,SMAD2:p.S397F NA 397,407 NA | ||
| 2.1 SMAD2:p.V398A -1.291 1 -1.291 1.000 2.000 0.000 1 1 1 1 NA 1 NA SMAD2(1) ENST00000262160(1) SMAD2:18:45371798:45371798:A:G SMAD2:p.V398A NA 398 NA | ||
| 3.0 SMAD3:p.Q26H 0.467 2 0.234 1.000 2.000 4.373 1 2 2 2 NA 2 NA SMAD3(2) ENST00000327367(2) SMAD3:15:67358560:67358560:A:G,SMAD3:15:67358570:67358570:G:T SMAD3:p.Q23R,SMAD3:p.Q26H NA 23,26 NA | ||
| 4.0 SMAD3:p.R93Q -0.247 2 -0.123 1.000 2.000 4.196 1 2 2 2 NA 2 NA SMAD3(2) ENST00000327367(2) SMAD3:15:67457298:67457298:T:C,SMAD3:15:67457304:67457304:G:A SMAD3:p.L91P,SMAD3:p.R93Q NA 91,93 NA | ||
| 4.0 SMAD3:p.R93Q 1.246 2 0.623 1.000 2.000 4.196 1 2 2 2 NA 2 NA SMAD3(2) ENST00000327367(2) SMAD3:15:67457298:67457298:T:C,SMAD3:15:67457304:67457304:G:A SMAD3:p.L91P,SMAD3:p.R93Q NA 91,93 NA | ||
| 6.0 SMAD3:p.R420H -6.901 4 -1.725 1.000 3.000 5.870 1 4 4 4 NA 3 NA SMAD3(4) ENST00000327367(4) SMAD3:15:67482843:67482843:C:T,SMAD3:15:67482849:67482849:G:A,SMAD3:15:67482849:67482849:G:T,SMAD3:15:67482855:67482855:G:A SMAD3:p.R420H,SMAD3:p.S416F,SMAD3:p.S418I,SMAD3:p.S418N NA 416,418,420 NA |