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{"sheet":"(B)SHSY5Y_samples","index":1,"n_rows":66,"n_cols":31,"rows_kept":66}
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["TIAM1","chr21:31154350","T","A","missense_variant","MODERATE","18|29","NM_003253:c.3068A>T","p.D1023V","-","COSM5019882&COSM5019883&rs75483199",0.02825,"-","tolerated(0.22)","benign(0.01)",3.36,"-",0.4792,1469,0.4922,2044,0.4931,2034,"-","-","-","-",0.4663,208,0.4559,204]
["TIAM1","chr21:31193476","G","A","intron_variant","MODIFIER","-","NM_003253:c.2575+1748C>T","-","-","rs2262256",0.2061,"-","-","-",-2.73,"-",0.4377,1067,0.4725,1689,0.4724,1685,"-","-","-","-",0.4643,140,0.471,138]
["TIAM1","chr21:31402991","T","A","intron_variant","MODIFIER","-","NM_003253:c.-369+60992A>T","-","-","rs16988223",0.1094,"-","-","-",0.836,"-",0.4711,951,0.5152,1584,0.5172,1570,"-","-","-","-",0.4356,163,0.414,157]
["COL6A6","chr3:130565440","G","A","missense_variant","MODERATE","3|36","NM_001102608:c.1108G>A","p.A370T","-","rs9830253&COSM4002455&COSM4002456",0.856,"-","deleterious(0.04)","possibly_damaging(0.886)",3.47,"-",0.4668,1701,0.4967,1846,0.4959,1837,0.4959,123,0.4959,123,0.5052,192,0.5105,190]
["COL6A6","chr3:130568042","T","C","splice_region_variant&intron_variant","LOW","-","NM_001102608:c.1844-5T>C","-","-","rs9836961",0.8549,"-","-","-",-5.26,"-",0.4871,1199,0.4835,1305,0.4827,1303,0.5315,143,0.5315,143,0.5681,213,0.5681,213]
["PIK3CA","chr3:179207162","A","T","intron_variant","MODIFIER","-","NM_006218:c.1146-2433A>T","-","-","rs6765953",0.1407,"-","-","-",-4.05,"-",0.4582,598,0.4461,881,0.4448,879,"-","-","-","-",0.5362,138,0.5115,131]
["UVSSA","chr4:1394562","G","A","synonymous_variant","LOW","1|1","NM_175918:c.51G>A","p.T17=","-","COSM3774130&rs77782813",0.3408,"-","-","-","-","-",0.1126,888,0.1517,1595,0.1103,1297,0.1333,105,"-","-",0.1771,271,0.1292,178]
["UVSSA","chr4:1394590","T","C","missense_variant","MODERATE","1|1","NM_175918:c.79T>C","p.C27R","-","COSM4596372&rs55884223",0.2286,"-","tolerated_low_confidence(0.57)","benign(0.006)","-","-","-","-",0.2196,1366,0.1385,1105,"-","-","-","-",0.2797,261,"-","-"]
["UVSSA","chr4:1394591","G","A","missense_variant","MODERATE","1|1","NM_175918:c.80G>A","p.C27Y","-","COSM447394&rs56109734",0.1899,"-","tolerated_low_confidence(0.09)","benign(0.271)","-","-","-","-",0.2177,1369,0.1353,1109,"-","-","-","-",0.2519,262,"-","-"]
["UVSSA","chr4:1394625","T","C","synonymous_variant","LOW","1|1","NM_175918:c.114T>C","p.C38=","-","rs78309237&COSM4415800",0.4012,"-","-","-","-","-",0.4411,535,0.4124,1239,0.3658,1088,"-","-","-","-",0.4313,211,0.3554,166]
["UVSSA","chr4:1394641","G","A","missense_variant","MODERATE","1|1","NM_175918:c.130G>A","p.A44T","-","COSM1328679&rs79298048",0.4002,"-","tolerated(0.14)","benign(0.019)","-","-",0.4513,554,0.4352,1305,0.4028,1162,"-","-","-","-",0.4188,234,0.3564,188]
["UVSSA","chr4:1394795","A","G","missense_variant","MODERATE","1|1","NM_175918:c.284A>G","p.H95R","-","rs9328733&COSM4155137",0.9501,"-","tolerated_low_confidence(0.08)","benign(0)","-","-",0.9825,628,0.9912,1362,0.9919,985,"-","-","-","-",0.978,227,0.9874,159]
["UVSSA","chr4:1394843","C","G","missense_variant","MODERATE","1|1","NM_175918:c.332C>G","p.P111R","-","rs200849975&COSM227471",0.089,"-","tolerated(0.2)","benign(0)","-","-",0.2998,487,0.2876,1297,0.0963,800,"-","-","-","-",0.2803,264,0.1069,159]
["UVSSA","chr4:1394847","T","C","synonymous_variant","LOW","1|1","NM_175918:c.336T>C","p.C112=","-","rs74518227&COSM243846",0.1186,"-","-","-","-","-",0.3043,483,0.2942,1319,0.1014,809,"-","-","-","-",0.2884,267,0.1118,161]
["UVSSA","chr4:1394905","C","G","missense_variant","MODERATE","1|1","NM_175918:c.394C>G","p.H132D","-","COSM228960&rs78906219",0.2783,"-","tolerated(1)","benign(0)","-","-",0.5309,550,0.5882,2205,0.5136,1102,0.7299,137,"-","-",0.5844,409,0.4619,210]
["UVSSA","chr4:1394936","C","G","missense_variant","MODERATE","1|1","NM_175918:c.425C>G","p.P142R","-","COSM248946&rs76728908",0.1968,"-","tolerated(0.3)","benign(0.003)","-","-",0.3713,606,0.5153,2251,0.3299,1161,0.4968,155,"-","-",0.5057,437,0.2676,213]
["UVSSA","chr4:1394938","T","C","missense_variant","MODERATE","1|1","NM_175918:c.427T>C","p.C143R","-","COSM397786&rs199689156",0.03918,"-","tolerated(0.32)","benign(0.009)","-","-",0.1947,601,0.3072,2207,"-","-",0.1176,17,"-","-",0.3142,436,"-","-"]
["UVSSA","chr4:1394967","C","G","synonymous_variant","LOW","1|1","NM_175918:c.456C>G","p.P152=","-","rs373946226&COSM3760384",0.1943,"-","-","-","-","-",0.6036,555,0.65,2103,0.4863,1057,0.5592,152,"-","-",0.6247,389,0.4153,183]
["UVSSA","chr4:1394969","T","C","missense_variant","MODERATE","1|1","NM_175918:c.458T>C","p.M153T","-","COSM225540&rs138170890",0.1943,"-","deleterious(0.05)","benign(0.01)","-","-",0.6293,553,0.6387,2059,0.471,1036,0.5517,145,"-","-",0.5896,385,0.3923,181]
["UVSSA","chr4:1394971","C","T","missense_variant","MODERATE","1|1","NM_175918:c.460C>T","p.R154W","-","rs112233131&COSM225541","-","-","tolerated(0.2)","benign(0)","-","-",0.3063,555,0.2254,2085,0.3637,1042,0.277,148,"-","-","-","-",0.3667,180]
["UVSSA","chr4:1395002","T","C","missense_variant","MODERATE","1|1","NM_175918:c.491T>C","p.V164A","-","COSM310328&rs79415192",0.02968,"-","tolerated(0.67)","benign(0)","-","-",0.3134,584,0.5018,1915,0.2486,1042,0.4444,126,"-","-",0.4344,343,"-","-"]
["UVSSA","chr4:1395029","C","G","missense_variant","MODERATE","1|1","NM_175918:c.518C>G","p.P173R","-","COSM1427144&rs200606324",0.3328,"-","tolerated(0.28)","benign(0)","-","-",0.187,508,0.2757,1244,0.2338,864,"-","-","-","-",0.3556,225,0.2826,138]
["UVSSA","chr4:1395031","T","C","missense_variant","MODERATE","1|1","NM_175918:c.520T>C","p.C174R","-","COSM1427145&rs144797159",0.3328,"-","tolerated(0.33)","benign(0.006)","-","-",0.1904,499,0.2576,1211,0.215,851,"-","-","-","-",0.3226,217,0.2707,133]
["UVSSA","chr4:1395164","T","C","missense_variant","MODERATE","1|1","NM_175918:c.653T>C","p.V218A","-","COSM4158805&rs76774451",0.2965,"-","tolerated(0.61)","benign(0)","-","-",0.1022,362,0.1537,748,0.0346,635,"-","-","-","-",0.2087,115,"-","-"]
["UVSSA","chr4:1395165","T","C","synonymous_variant","LOW","1|1","NM_175918:c.654T>C","p.V218=","-","COSM4158806&rs75736606",0.174,"-","-","-","-","-",0.0773,362,0.1413,757,"-","-","-","-","-","-",0.2393,117,"-","-"]
["UVSSA","chr4:1395186","T","C","synonymous_variant","LOW","1|1","NM_175918:c.675T>C","p.D225=","-","COSM1567005&rs71614969",0.2326,"-","-","-","-","-",0.1662,379,0.3261,972,0.1611,745,"-","-","-","-",0.2028,143,0.09,100]
["UVSSA","chr4:1395217","T","C","missense_variant","MODERATE","1|1","NM_175918:c.706T>C","p.C236R","-","rs71614970&COSM1567004",0.2913,"-","tolerated(0.35)","benign(0)","-","-",0.2691,379,0.4386,1026,0.3065,796,"-","-","-","-",0.38,150,0.3056,108]
["UVSSA","chr4:1395313","A","G","missense_variant","MODERATE","1|1","NM_175918:c.802A>G","p.S268G","-","rs71614971&COSM3721348",0.3763,"-","tolerated(0.42)","benign(0)","-","-",0.4623,305,0.5124,884,0.4832,772,"-","-","-","-",0.5062,162,0.4507,142]
["UVSSA","chr4:1395368","T","C","missense_variant","MODERATE","1|1","NM_175918:c.857T>C","p.M286T","-","rs71614972&COSM1567003",0.9349,"-","tolerated(0.3)","benign(0.001)","-","-",0.9719,249,0.9963,809,1,736,"-","-","-","-",0.9615,182,0.9805,154]
["UVSSA","chr4:1395373","A","G","missense_variant","MODERATE","1|1","NM_175918:c.862A>G","p.S288G","-","COSM4158807&rs71614973",0.3748,"-","tolerated(0.45)","benign(0)","-","-",0.4453,256,0.5105,807,0.4891,732,"-","-","-","-",0.5196,179,0.4834,151]
["TERT","chr5:1280823","A","G","intron_variant","MODIFIER","-","NM_198253:c.1770-485T>C","-","-","rs6897196",0.68,"-","-","-",-2.02,"-",0.3947,1092,0.4449,1895,0.2327,1371,"-","-","-","-",0.3831,154,0.1038,106]
["TERT","chr5:1280825","GAGCCCACC","G","intron_variant","MODIFIER","-","NM_198253:c.1770-495_1770-488del","-","-","rs34002450",0.3907,"-","-","-",-1.619,28483762,0.406,739,0.4656,887,0.3402,723,"-","-","-","-",0.3846,52,0.1579,38]
["UTRN","chr6:144667786","A","G","intron_variant","MODIFIER","-","NM_007124:c.7480-10620A>G","-","-","rs12663692",0.3012,"-","-","-",-2.12,"-",0.5078,957,0.4703,1280,0.4695,1278,"-","-","-","-",0.4722,180,0.4722,180]
["UTRN","chr6:144818846","T","C","intron_variant","MODIFIER","-","NM_007124:c.9358-2036T>C","-","-","rs1538399",0.8938,"-","-","-",-3.84,"-",0.3706,626,0.385,922,0.3647,883,"-","-","-","-",0.2819,149,0.2676,142]
["FGFR1","chr8:38441901","G","A","intron_variant","MODIFIER","-","NM_023110:c.92-11953C>T","-","-","rs6983315",0.6032,"-","-","-",-6.13,"-",0.9934,1062,0.9981,1546,0.998,1537,1,104,1,104,1,197,1,193]
["DOCK8","chr9:457366","A","T","intron_variant","MODIFIER","-","NM_203447:c.6068+5249A>T","-","-","rs868761",0.995,"-","-","-",-2.35,"-",0.4786,1120,0.485,1268,0.4858,1266,0.5283,106,0.5283,106,0.566,159,0.5605,157]
["ATRX","chrX:77682471","C","G","missense_variant","MODERATE","9|35","NM_000489:c.2785G>C","p.E929Q","-","rs3088074&COSM3759544",0.8799,"benign","deleterious_low_confidence(0.04)","benign(0.005)",2.35,"23757202&24728327&21070966&23185534&23539269&30226859",1,1543,0.9985,1334,0.9985,1334,1,123,1,123,0.9898,197,0.9898,197]

{"sheet":"(C)NGS_panel","index":2,"n_rows":201,"n_cols":12,"rows_kept":201}
["Gene","Chromosome","Transcript","Exon","Exon Code","Start ","Stop ","size (bp)","ref.seq","ref.prot","cDNA change","Protein change"]
["COL11A1"]
["COL11A1",1,"ENST00000370096.8","All 1-67","NO UTRs","Ex1 from 103108178","Ex67 to 102878019",{"$f":"7261-288-1552","v":5421},"NM_001854","NP_001845"]
["NRAS"]
["NRAS",1,"ENST00000369535.4","EX2","ENSE00001450282",114716098,114716138,{"$f":"G5-F5","v":40},"NM_002524","NP_002515"]
["NRAS",1,"ENST00000369535.4","EX3","ENSE00001751295",114713896,114713925,29,"NM_002524","NP_002515"]
["NRAS",1,"ENST00000369535.4","EX4","ENSE00000784343",114709571,114709593,{"$f":"G7-F7","v":22},"NM_002524","NP_002515"]
["NRAS",1,"ENST00000369535.4","EX4","ENSE00000784343",114709657,114709678,{"$f":"G8-F8","v":21},"NM_002524","NP_002515"]
["ALK"]
["ALK",2,"ENST00000389048.7","EX20","ENSE00001154407",29223528,29223342,187,"NM_004304","NP_004295"]
["ALK",2,"ENST00000389048.7","EX21","ENSE00001154403",29222607,29222517,91,"NM_004304","NP_004295"]
["ALK",2,"ENST00000389048.7","EX22","ENSE00001154399",29222408,29222344,65,"NM_004304","NP_004295"]
["ALK",2,"ENST00000389048.7","EX23","ENSE00001154395",29220835,29220706,130,"NM_004304","NP_004295"]
["ALK",2,"ENST00000389048.7","EX24","ENSE00001154390",29214081,29213984,98,"NM_004304","NP_004295"]
["ALK",2,"ENST00000389048.7","EX25","ENSE00001154381",29209878,29209786,93,"NM_004304","NP_004295"]
["ALK",2,"ENST00000389048.7","EX26","ENSE00001682043",29207272,29207171,102,"NM_004304","NP_004295"]
["ALK",2,"ENST00000389048.7","EX27","ENSE00001154367",29197676,29197542,135,"NM_004304","NP_004295"]
["ALK",2,"ENST00000389048.7","EX28","ENSE00001154361",29196860,29196770,91,"NM_004304","NP_004295"]
["COL5A2"]
["COL5A2",2,"ENST00000374866.8","EX26","ENSE00001464960",189064033,189063980,54,"NM_000393 ","NP_000384 "]
["COL5A2",2,"ENST00000374866.8","EX27","ENSE00001464958",189063270,189063172,99,"NM_000393 ","NP_000384 "]
["COL5A2",2,"ENST00000374866.8","EX30","ENSE00003626834",189061615,189061562,54,"NM_000393 ","NP_000384 "]
["COL5A2",2,"ENST00000374866.8","EX34","ENSE00003535763",189057427,189057320,108,"NM_000393 ","NP_000384 "]
["COL5A2",2,"ENST00000374866.8","EX41","ENSE00001464928",189052225,189052172,54,"NM_000393 ","NP_000384 "]
["COL5A2",2,"ENST00000374866.8","EX43","ENSE00001464924",189050676,189050569,108,"NM_000393 ","NP_000384 "]
["COL5A2",2,"ENST00000374866.8","EX51","ENSE00001340085",189039563,189039272,292,"NM_000393 ","NP_000384 "]
["COL5A2",2,"ENST00000374866.8","EX52","ENSE00001464909",189036803,189036616,188,"NM_000393 ","NP_000384 "]
["COL5A2",2,"ENST00000374866.8","EX53","ENSE00001464906",189035155,189034916,240,"NM_000393 ","NP_000384 "]
["COL5A2",2,"ENST00000374866.8","EX54","ENSE00001950594",189034216,189034070,147,"NM_000393 ","NP_000384 "]
["MYCN"]
["MYCN",2,"ENST00000281043.3","EX2","ENSE00000999248",15941948,15942854,907,"NM_005378","NP_005369"]
["COL6A6"]
["COL6A6",3,"ENST00000358511.10","EX3","ENSE00001315758",130564994,130565614,621,"NM_001102608.2","NP_001096078.1"]
["COL6A6",3,"ENST00000358511.10","EX5","ENSE00001316756",130568047,130568604,558,"NM_001102608.2","NP_001096078.1"]
["COL6A6",3,"ENST00000358511.10","EX6","ENSE00001325751",130570818,130571393,576,"NM_001102608.2","NP_001096078.1"]
["COL6A6",3,"ENST00000358511.10","EX19","ENSE00003662480",130599757,130599810,54,"NM_001102608.2","NP_001096078.1"]
["COL6A6",3,"ENST00000358511.10","EX30","ENSE00003477648",130642987,130643023,37,"NM_001102608.2","NP_001096078.1"]
["PIK3CA"]
["PIK3CA",3,"ENST00000263967.3","EX10","ENSE00001077674",179218210,179218334,125,"NM_006218","NP_006209"]
["PIK3CA",3,"ENST00000263967.3","EX21","ENSE00001139987",179234094,179234364,271,"NM_006218","NP_006209"]
["CRIPAK/ UVSSA"]
["CRIPAK/ UVSSA",4,"ENST00000324803.6","EX1 ","ENSE00001266771",1394512,1395852,1340,"NM_175918.3","NP_787114.2"]
["TERT"]
["TERT",5,"ENST00000310581.9","EX1 ","ENSE00001340231 (with UTR and 142 bp before promotor)",1295189,1294771,318,"NM_198253.2","NP_937983"]
["TERT",5,"ENST00000310581.9","EX2 ","ENSE00001197112",1294666,1294547,120,"NM_198253.2","NP_937983"]
["TERT",5,"ENST00000310581.9","EX2","ENSE00001197112",1293408,1293316,92,"NM_198253.2","NP_937983"]
["TERT",5,"ENST00000310581.9","EX3","ENSE00001197095",1282624,1282429,196,"NM_198253.2","NP_937983"]
["TRIO"]
["TRIO",5,"ENST00000344204.8","EX4 ","ENSE00003688338",14286871,14287063,193,"NM_007118.2","NP_009049"]
["TRIO",5,"ENST00000344204.8","EX5 ","ENSE00001133883",14290716,14291228,513,"NM_007118.2","NP_009049"]
["TRIO",5,"ENST00000344204.8","EX19","ENSE00003480113",14374229,14374343,115,"NM_007118.2","NP_009049"]
["TRIO",5,"ENST00000344204.8","EX22","ENSE00003547020",14387438,14387632,195,"NM_007118.2","NP_009049"]
["TRIO",5,"ENST00000344204.8","EX41","ENSE00003500387",14476894,14476963,70,"NM_007118.2","NP_009049"]
["TRIO",5,"ENST00000344204.8","EX48","ENSE00001188272",14487464,14488260,797,"NM_007118.2","NP_009049"]
["TRIO",5,"ENST00000344204.8","EX5 ","ENSE00001133883",14290716,14291228,513,"NM_007118.2","NP_009049"]
["PTPRK"]
["PTPRK",6,"ENST00000368213.9","EX1 ","ENSE00002151979 (4bp before starting)  ",128520362,128520259,103,"NM_001135648","NP_001129120"]
["PTPRK",6,"ENST00000368213.9","EX3 ","ENSE00003508782",128322310,128322039,272,"NM_001135648","NP_001129120"]
["PTPRK",6,"ENST00000368213.9","EX6 ","ENSE00003648694",128219096,128218922,175,"NM_001135648","NP_001129120"]
["PTPRK",6,"ENST00000368213.9","EX7 ","ENSE00003783990 ",128184725,128184432,294,"NM_001135648","NP_001129120"]
["PTPRK",6,"ENST00000368213.9","EX12","ENSE00003641852",128067792,128067519,274,"NM_001135648","NP_001129120"]
["PTPRK",6,"ENST00000368213.9","EX17","ENSE00002170574",127996988,127996901,88,"NM_001135648","NP_001129120"]
["PTPRK",6,"ENST00000368213.9","EX22","ENSE00002220256",127990885,127990769,117,"NM_001135648","NP_001129120"]
["PTPRK",6,"ENST00000368213.9","EX23","ENSE00002302514",127985875,127985721,155,"NM_001135648","NP_001129120"]
["PTPRK",6,"ENST00000368213.9","EX25","ENSE00002260634",127982980,127982831,150,"NM_001135648","NP_001129120"]
["PTPRK",6,"ENST00000368213.9","EX29","ENSE00002242528",127973827,127973664,164,"NM_001135648","NP_001129120"]
["UTRN "]
["UTRN ",6,"ENST00000367545.7","EX1 ","ENSE00001616860",144291829,144291907,79,"NM_007124.2 ","NP_009055.2  "]
["UTRN ",6,"ENST00000367545.7","EX9 ","ENSE00002290277",144435935,144436138,204,"NM_007124.2 ","NP_009055.2  "]
["UTRN ",6,"ENST00000367545.7","EX15","ENSE00002223546",144447602,144447781,180,"NM_007124.2 ","NP_009055.2  "]
["UTRN ",6,"ENST00000367545.7","EX16","ENSE00002273250",144448600,144448769,170,"NM_007124.2 ","NP_009055.2  "]
["UTRN ",6,"ENST00000367545.7","EX21","ENSE00002256996",144461197,144461342,146,"NM_007124.2 ","NP_009055.2  "]
["UTRN ",6,"ENST00000367545.7","EX24","ENSE00002506135",144474604,144474759,156,"NM_007124.2 ","NP_009055.2  "]
["UTRN ",6,"ENST00000367545.7","EX36","NSE00001084800",144514650,144514820,171,"NM_007124.2 ","NP_009055.2  "]
["UTRN ",6,"ENST00000367545.7","EX58","ENSE00001084862",144771907,144771968,62,"NM_007124.2 ","NP_009055.2  "]
["UTRN ",6,"ENST00000367545.7","EX59","ENSE00001906623",144774290,144774364,75,"NM_007124.2 ","NP_009055.2  "]
["UTRN ",6,"ENST00000367545.7","EX61","ENSE00001084847",144789194,144789279,86,"NM_007124.2 ","NP_009055.2  "]
["UTRN ",6,"ENST00000367545.7","EX65","ENSE00001084845 ","144820882 1",44821018,137,"NM_007124.2 ","NP_009055.2  "]
["UTRN ",6,"ENST00000367545.7","EX71","ENSE00001084796 ",144839173,144839284,112,"NM_007124.2 ","NP_009055.2  "]
["BRAF"]
["BRAF",7,"ENST00000646891.1","EX7","ENSE00003487759",140800350,140800371,{"$f":"G81-F81","v":21},"NM_004333","NP_004324"]
["BRAF",7,"ENST00000646891.1","EX8","ENSE00003569635",140794458,140794480,22,"NM_004333","NP_004324"]
["BRAF",7,"ENST00000646891.1","EX11","ENSE00003559218",140781582,140781633,51,"NM_004333","NP_004324"]
["BRAF",7,"ENST00000646891.1","EX11","ENSE00003559218",140781667,140781688,21,"NM_004333","NP_004324"]
["BRAF",7,"ENST00000646891.1","EX12","ENSE00003521664",140778043,140778065,22,"NM_004333","NP_004324"]
["BRAF",7,"ENST00000646891.1","EX14","ENSE00003649805",140754176,140754198,22,"NM_004333","NP_004324"]
["BRAF",7,"ENST00000646891.1","EX15","ENSE00003485507",140753271,140753292,21,"NM_004333","NP_004324"]
["BRAF",7,"ENST00000646891.1","EX15","ENSE00003485507",140753310,140753404,94,"NM_004333","NP_004324"]
["FGFR1"]
["FGFR1",8,"ENST00000447712.6","EX12","ENSE00003644071",38417416,38417306,111,"NM_023110 ","NP_075598.2"]
["FGFR1",8,"ENST00000447712.6","EX14","ENSE00003576378",38414901,38414779,123,"NM_023110 ","NP_075598.2"]
["PTK2"]
["PTK2",8,"ENST00000340930.7","EX3","ENSE00003798215",140890737,140890543,{"$f":"F93-G93","v":194},"NM_001199649","NP_001186578.1"]
["PTK2",8,"ENST00000340930.7","EX4","ENSE00003785352",140879637,140879471,167,"NM_001199649","NP_001186578.1"]
["PTK2",8,"ENST00000340930.7","EX5","ENSE00003534716",140864399,140864312,88,"NM_001199649","NP_001186578.1"]
["PTK2",8,"ENST00000340930.7","EX 20","ENSE00003674907",140743330,140743230,101,"NM_001199649","NP_001186578.1"]
["PTK2",8,"ENST00000340930.7","EX 22","ENSE00003492653",140735455,140735251,205,"NM_001199649","NP_001186578.1"]
["PTK2",8,"ENST00000340930.7","EX25","ENSE00003482075",140702707,140702570,138,"NM_001199649","NP_001186578.1"]
["DOCK8"]
["DOCK8",9,"ENST00000432829.6","EX17","ENSE00003502320",371428,371566,139,"NM_203447","NP_982272"]
["DOCK8",9,"ENST00000432829.6","EX19","ENSE00003545454",376210,376305,96,"NM_203447","NP_982272"]
["DOCK8",9,"ENST00000432829.6","EX27","ENSE00003497795",404918,405073,156,"NM_203447","NP_982272"]
["DOCK8",9,"ENST00000432829.6","EX47","ENSE00003515304",463517,463687,171,"NM_203447","NP_982272"]
["HTRA1"]
["HTRA1",10,"ENST00000368984.7","All 1-9","NO UTRs","Ex1_from 122461652","Ex9-to 122514360",{"$f":"2120-128-549","v":1443},"NM_002775","NP_002766 "]
["PTEN"]
["PTEN",10,"ENST00000371953.7","EX1","ENSE00001456562",87864450,87864450,118,"NM_000314","NP_000305"]
["PTEN",10,"ENST00000371953.7","EX2","ENSE00001156351",87894005,87894005,124,"NM_000314","NP_000305"]
["PTEN",10,"ENST00000371953.7","EX3","ENSE00001156344",87925493,87925493,84,"NM_000314","NP_000305"]
["PTEN",10,"ENST00000371953.7","EX4","ENSE00003595610",87931026,87931026,83,"NM_000314","NP_000305"]
["PTEN",10,"ENST00000371953.7","EX5","ENSE00001156330",87932993,87932993,278,"NM_000314","NP_000305"]
["PTEN",10,"ENST00000371953.7","EX6","ENSE00001156327",87952098,87952098,181,"NM_000314","NP_000305"]
["PTEN",10,"ENST00000371953.7","EX7","ENSE00003725338",87957833,87957833,206,"NM_000314","NP_000305"]
["PTEN",10,"ENST00000371953.7","EX8","ENSE00001156315",87960874,87960874,264,"NM_000314","NP_000305"]
["PTEN",10,"ENST00000371953.7","EX9","ENSE00001456541",87965267,87965267,226,"NM_000314","NP_000305"]
["KRAS"]
["KRAS",12,"ENST00000311936.7","EX2","ENSE00000936617",25245276,25245297,{"$f":"G117-F117","v":21},"NM_004985","NP_004976"]
["KRAS",12,"ENST00000311936.7","EX2","ENSE00000936617",25245309,25245383,74,"NM_004985","NP_004976"]
["KRAS",12,"ENST00000311936.7","EX3","ENSE00001719809",25227330,25227360,30,"NM_004985","NP_004976"]
["KRAS",12,"ENST00000311936.7","EX4","ENSE00001644818",25225616,25225639,{"$f":"G120-F120","v":23},"NM_004985","NP_004976"]
["KRAS",12,"ENST00000311936.7","EX4","ENSE00001644818",25225702,25225725,{"$f":"G121-F121","v":23},"NM_004985","NP_004976"]
["PTPN11"]
["PTPN11",12,"ENST00000351677.6","EX3","ENSE00000998168 ",112450355,112450411,56,"NM_002834.3","NP_002825"]
["PTPN11",12,"ENST00000351677.6","EX12","ENSE00000755336",112488443,112488510,68,"NM_002834.3","NP_002825"]
["PTPN11",12,"ENST00000351677.6","EX13","ENSE00000755337",112489024,112489175,152,"NM_002834.3","NP_002825"]
["BRCA2"]
["BRCA2",13,"ENST00000380152.7","EX10","ENSE00000939167",32333280,32333310,30,"NM_000059","NP_000050"]
["BRCA2",13,"ENST00000380152.7","EX11","ENSE00000939168",32339685,32339715,30,"NM_000059","NP_000050"]
["BRCA2",13,"ENST00000380152.7","EX23","ENSE00000939185",32379880,32379910,30,"NM_000059","NP_000050"]
["FOXA1"]
["FOXA1",14,"ENST00000250448.2","All 1-2","NO UTRs","Ex1_from 37594972","Ex2_to 37591364",{"$f":"2862-1381-62","v":1419},"NM_004496","NP_004487"]
["BRCA1"]
["BRCA1",17,"ENST00000357654.8","EX2","ENSE00003559512",43124015,43124045,{"$f":"G133-F133","v":30},"NM_007294","NP_009225"]
["BRCA1",17,"ENST00000357654.8","EX10","ENSE00003522602",43093555,43093585,{"$f":"G134-F134","v":30},"NM_007294","NP_009225"]
["TP53"]
["TP53",17,"ENST00000269305.8","EX4","ENSE00003625790",7676272,7675994,279,"NM_000546 ","NP_000537"]
["TP53",17,"ENST00000269305.8","EX5","ENSE00003518480",7675236,7675053,184,"NM_000546 ","NP_000537"]
["TP53",17,"ENST00000269305.8","EX6","ENSE00003723991",7674971,7674859,113,"NM_000546 ","NP_000537"]
["TP53",17,"ENST00000269305.8","EX7","ENSE00003712342",7674290,7674181,110,"NM_000546 ","NP_000537"]
["TP53",17,"ENST00000269305.8","EX8","ENSE00003725258",7673837,7673701,137,"NM_000546 ","NP_000537"]
["TP53",17,"ENST00000269305.8","EX9","ENSE00003786593",7673608,7673535,74,"NM_000546 ","NP_000537"]
["TP53",17,"ENST00000269305.8","EX10","ENSE00003545950",7670715,7670609,107,"NM_000546 ","NP_000537"]
["PLAUR"]
["PLAUR",19,"ENST00000340093.7","EX1 ","ENSE00001048170 ",43670120,43670066,54,"NM_002659.3","NP_002650.1"]
["PLAUR",19,"ENST00000340093.7","EX4 ","ENSE00003786206",43656640,43656479,162,"NM_002659.3","NP_002650.1"]
["PLAUR",19,"ENST00000340093.7","EX5 ","ENSE00003516101",43655573,43655439,135,"NM_002659.3","NP_002650.1"]
["PLAUR",19,"ENST00000340093.7","EX7 ","ENSE00000847434",43649143,43648890,253,"NM_002659.3","NP_002650.1"]
["MUC16"]
["MUC16",19,"ENST00000397910.8","EX1 ","ENSE00001432158",8977341,null,null,"NM_024690.2 ","NP_078966.2","c.3798 A>T /A>C","p.K1266N"]
["MUC16",19,"ENST00000397910.8","EX1 ","ENSE00001432158",8972439,null,null,"NM_024690.2 ","NP_078966.2","c.8700G>T","p.L2900F"]
["MUC16",19,"ENST00000397910.8","EX1 ","ENSE00001432158",8967056,null,null,"NM_024690.2 ","NP_078966.2","c.9714G>A","p.M3238I"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810","8969826-8969825",null,null,"NM_024690.2 ","NP_078966.2","c.9539G>A / c.9530G>C / c.9530G>A","p. G3177R / p. G3177A  /p. G3177E"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810",8961351,null,null,"NM_024690.2 ","NP_078966.2","c.15355C>T","p.P5119S"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810","8953633-8953635",null,null,"NM_024690.2 ","NP_078966.2","c.23136_23137insC / c.23136delC / c.23135_23136insC","p. S7713Lfs*5 /  p.S7713Lfs*40"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810","8951739-8951740",null,null,"NM_024690.2 ","NP_078966.2","c.25031A>C / c.25030G>A","p.D8344A / p.D8344N"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810",8949132,null,null,"NM_024690.2 ","NP_078966.2","c.27638T>C","p.I9213T"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810",8963796,null,null,"NM_024690.2 ","NP_078966.2","c.12974G>T","p.S4325I"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810",8961872,null,null,"NM_024690.2 ","NP_078966.2","c.14898G>T ","P.M4966I"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810",8961513,null,null,"NM_024690.2 ","NP_078966.2","c.15257G>A","p.R5086H"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810",8959183,null,null,"NM_024690.2 ","NP_078966.2","c.17587A>C","p.N5863H"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810",8959024,null,null,"NM_024690.2 ","NP_078966.2","c.17746C>A","p.Q5916K"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810",8954190,null,null,"NM_024690.2 ","NP_078966.2","c.22580C>A  / c.22580C>G","P.S7527Y /  p.S7527C"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810",8953577,null,null,"NM_024690.2 ","NP_078966.2","c.23193C>G","p.I7731M"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810",8953304,null,null,"NM_024690.2 ","NP_078966.2","c.23466G>T","p.Q7822H"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810",8951940,null,null,"NM_024690.2 ","NP_078966.2","c.24830C>A","p.S8277L / p.S8277*"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810",8951716,null,null,"NM_024690.2 ","NP_078966.2","c.25054G>T / c.25054G>A","p.A8352S / p.A8352T"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810",8950228,null,null,"NM_024690.2 ","NP_078966.2","c.26542G>T  / c.26542G>A","p.E8848* / p.E8848K"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810","8947494-8947493 ",null,null,"NM_024690.2 ","NP_078966.2","c.29276C>T /  c.29277A>G","p.S9759L  / p.S9759S"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810",8945902,null,null,"NM_024690.2 ","NP_078966.2","c.30868G>A / c.30868G>T","p.A10290T / p.A10290S"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810",8865970,null,null,"NM_024690.2 ","NP_078966.2","c.42330C>G","p.L14110L"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810",8951742,null,null,"NM_024690.2 ","NP_078966.2","c.25028A>G","E8343G"]
["MUC16",19,"ENST00000397910.8","EX3 ","ENSE00001422810",8959527,null,null,"NM_024690.2 ","NP_078966.2","c.17243C>A","p.P5748Q"]
["MUC16",19,"ENST00000397910.8","EX5 ","ENSE00001221099",8938427,null,null,"NM_024690.2 ","NP_078966.2","c.32528delT / c.32528T>C","p.F10843fs*11 / p.F10843S"]
["MUC16",19,"ENST00000397910.8","EX5 ","ENSE00001221099",8935175,null,null,"NM_024690.2 ","NP_078966.2","c.35780C>A","p.T11927N"]
["MUC16",19,"ENST00000397910.8","EX19","ENSE00002320504",8910431,null,null,"NM_024690.2 ","NP_078966.2","c.37216G>C","p.G12406R"]
["MUC16",19,"ENST00000397910.8","EX19","ENSE00002320504",8910442,null,null,"NM_024690.2 ","NP_078966.2","c.37205G>A","p.G12402E"]
["MUC16",19,"ENST00000397910.8","EX61","ENSE00003174613","8885776-8885775 ",null,null,"NM_024690.2 ","NP_078966.2","c.41120G>T /  c.41121C>T","p.C13707F / p.C13707C"]
["MUC16",19,"ENST00000397910.8","EX61","ENSE00003174613","8885813-18885811",null,null,"NM_024690.2 ","NP_078966.2","c.41083A>C / c.41085A>C","p.E13695K / p.E13695D"]
["MUC16",19,"ENST00000397910.8","EX65","ENSE00003216399",8883516,null,null,"NM_024690.2 ","NP_078966.2","c.41493G>T","p.K13831N"]
["MUC16",19,"ENST00000397910.8","EX67","ENSE00003483932","8882331-8882329",null,null,"NM_024690.2 ","NP_078966.2","c.41752-54","p.T13918A / p.T13918= / p.X13918_splice / p.T13918T"]
["RHPN2"]
["RHPN2",19,"ENST00000254260.7","EX3 ","ENSE00003594078",33026601,null,null,"NM_033103","NP_149094","c.271G>A","V73M"]
["TIAM1"]
["TIAM1",21,"ENST00000286827.7 ","EX6 ","ENSE00003665885",31252189,31251742,448,"NM_003253.3","NP_003244.2  "]
["TIAM1",21,"ENST00000286827.7 ","EX7 ","ENSE00003624335",31245660,31245488,173,"NM_003253.3","NP_003244.2  "]
["TIAM1",21,"ENST00000286827.7 ","EX8 ","ENSE00003540307",31225950,31225726,225,"NM_003253.3","NP_003244.2  "]
["TIAM1",21,"ENST00000286827.7 ","EX9 ","ENSE00003581255",31223591,31223406,186,"NM_003253.3","NP_003244.2  "]
["TIAM1",21,"ENST00000286827.7 ","EX10","ENSE00003609954 ",31217699,31217553,147,"NM_003253.3","NP_003244.2  "]
["TIAM1",21,"ENST00000286827.7 ","EX11","ENSE00001265070",31213472,31213398,75,"NM_003253.3","NP_003244.2  "]
["TIAM1",21,"ENST00000286827.7 ","EX18","ENSE00001025643",31154426,31154247,180,"NM_003253.3","NP_003244.2  "]
["TIAM1",21,"ENST00000286827.7 ","EX26","ENSE00001667545",31130315,31130213,103,"NM_003253.3","NP_003244.2  "]
["TIAM1",21,"ENST00000286827.7 ","EX28","ENSE00001769773",31124694,31124522,173,"NM_003253.3","NP_003244.2  "]
["TIAM1",21,"ENST00000286827.7 ","EX29","ENSE00001612577",31120837,31120368,2490,"NM_003253.3","NP_003244.2  "]
["ATRX"]
["ATRX","X","ENST00000373344.10","EX5","ENSE00003713901",77696704,77696577,128,"NM_000489","NP_000480"]
["ATRX","X","ENST00000373344.10","EX6","ENSE00003736076",77693937,77693824,114,"NM_000489","NP_000480"]
["ATRX","X","ENST00000373344.10","EX7","ENSE00003636288",77688927,77688818,110,"NM_000489","NP_000480"]
["ATRX","X","ENST00000373344.10","EX8","ENSE00003516677",77685006,77684939,68,"NM_000489","NP_000480"]
["ATRX","X","ENST00000373344.10","EX9","ENSE00003519307",77684593,77681520,3074,"NM_000489","NP_000480"]
["ATRX","X","ENST00000373344.10","EX29","ENSE00003682636",77558846,77558669,178,"NM_000489","NP_000480"]
["ATRX","X","ENST00000373344.10","EX30","ENSE00003691580",77557645,77557451,195,"NM_000489","NP_000480"]