"Polymorphism, because...",sample,chr,pos,ref,alt,ann,Nr_Ref,Nr_Alt,DP,VAF,GATK,Platypus,VarScan,LoFreq,FreeBayes,SNVer,SAMtools,VarDict,Called,ESP6500,1000G,Cosmic,Cosmic_location,Cosmic_occurence,dbSNP (SNPs),dbSNP (SNVs),Clinically_flagged_dbSNP,ExAC,ClinVar (clinical),ClinVar (no impact),Provean Score,Prediction,SIFT Score,Prediction,BQ_REF,BQ_ALT
"ESP6500, 1000G, ExAC, freq",UPN2_023,2,25523096,T,G,missense_variant(MODERATE|MISSENSE|gAg/gCg|p.Glu30Ala/c.89A>C|912|DNMT3A|protein_coding|CODING|ENST00000264709|3|G),2915,2652,5580,"0,4752688172",1,1,1,1,1,1,1,1,8,"0,2093","0,007",COSM307361,haematopoietic_and_lymphoid_tissue,1,NO,rs143730975,NO,"0,002916",NO,YES,"-0,24",Neutral,0,Damaging,"33,28","33,23"
"ESP6500, dbSNP, ExAC, freq",UPN2_002,4,106155185,C,G,missense_variant(MODERATE|MISSENSE|cCt/cGt|p.Pro29Arg/c.86C>G|2002|TET2|protein_coding|CODING|ENST00000380013|3|G),6634,6654,13355,"0,4982403594",1,1,1,1,1,1,1,1,8,"1,5465",NO,"COSM5020248, COSM5020249",soft_tissue,4,rs12498609,rs12498609,NO,"0,06",NO,YES,"-3,11",Deleterious,"0,002",Damaging,"34,99","34,42"
"ESP6500, ExAC, freq",UPN2_034,4,106155199,C,T,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu34Phe/c.100C>T|2002|TET2|protein_coding|CODING|ENST00000380013|3|T),2738,2807,5572,"0,5037688442",1,1,1,1,1,1,1,1,8,"1,8953",NO,NO,NO,O,NO,rs111948941,NO,"0,015",NO,YES,"-1,86",Neutral,0,Damaging,"35,05","33,74"
"ESP6500, ExAC, freq",UPN2_006,4,106155199,C,T,missense_variant(MODERATE|MISSENSE|Ctc/Ttc|p.Leu34Phe/c.100C>T|2002|TET2|protein_coding|CODING|ENST00000380013|3|T),3999,4113,8141,"0,5052204889",1,1,1,1,1,1,1,1,8,"1,8953",NO,NO,NO,O,NO,rs111948941,NO,"0,015",NO,YES,"-1,86",Neutral,0,Damaging,35,"33,83"
"ESP6500, dbSNP, neutral effect, freq",UPN2_034,4,106155751,G,A,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val218Met/c.652G>A|2002|TET2|protein_coding|CODING|ENST00000380013|3|A),2102,2310,4420,"0,5226244344",0,1,1,1,1,0,1,1,6,"2,093",NO,"COSM4416139, COSM4416140",haematopoietic_and_lymphoid_tissue,2,rs6843141,rs6843141,NO,NA,NO,YES,"0,98",Neutral,1,Tolerated,"35,17","35,35"
"2nd Illumina, ESP6500, dbSNP, neutral effect, freq",UPN2_006,4,106155751,G,A,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val218Met/c.652G>A|2002|TET2|protein_coding|CODING|ENST00000380013|3|A),4558,4781,9380,"0,5097014925",1,1,1,1,1,0,1,1,7,"2,093",NO,"COSM4416139, COSM4416140",haematopoietic_and_lymphoid_tissue,2,rs6843141,rs6843141,NO,NA,NO,YES,"0,98",Neutral,1,Tolerated,"34,92","35,2"
"ESP6500, dbSNP, ExAC, freq",UPN2_017,4,106156163,G,A,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly355Asp/c.1064G>A|2002|TET2|protein_coding|CODING|ENST00000380013|3|A),3362,3054,6424,"0,4754047323",1,1,1,1,1,1,1,1,8,"4,3721",NO,NO,NO,O,rs61744960,rs61744960,NO,"0,027",NO,YES,"-2,2",Neutral,"0,005",Damaging,"35,19","35,24"
"ESP6500, dbSNP, ExAC, freq",UPN2_023,4,106156163,G,A,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly355Asp/c.1064G>A|2002|TET2|protein_coding|CODING|ENST00000380013|3|A),40,15826,15895,"0,9956590123",1,1,1,1,1,1,1,1,8,"4,3721",NO,NO,NO,O,rs61744960,rs61744960,NO,"0,027",NO,YES,"-2,2",Neutral,"0,005",Damaging,"34,83","35,24"
"ESP6500, dbSNP, ExAC, freq",UPN2_045,4,106156163,G,A,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly355Asp/c.1064G>A|2002|TET2|protein_coding|CODING|ENST00000380013|3|A),8307,8795,17136,"0,5132469655",1,1,1,1,1,1,1,1,8,"4,3721",NO,NO,NO,O,rs61744960,rs61744960,NO,"0,027",NO,YES,"-2,2",Neutral,"0,005",Damaging,"34,8","35,23"
"ESP6500, dbSNP, ExAC, freq",UPN2_040,4,106156163,G,A,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly355Asp/c.1064G>A|2002|TET2|protein_coding|CODING|ENST00000380013|3|A),94,30776,30937,"0,9947958755",1,1,1,1,1,1,1,1,8,"4,3721",NO,NO,NO,O,rs61744960,rs61744960,NO,"0,027",NO,YES,"-2,2",Neutral,"0,005",Damaging,"34,19","35,24"
"ESP6500, dbSNP, ExAC, freq",UPN2_062,4,106156163,G,A,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly355Asp/c.1064G>A|2002|TET2|protein_coding|CODING|ENST00000380013|3|A),7183,7338,14556,"0,5041220115",1,1,1,1,1,1,1,1,8,"4,3721",NO,NO,NO,O,rs61744960,rs61744960,NO,"0,027",NO,YES,"-2,2",Neutral,"0,005",Damaging,"34,38","35,19"
"ESP6500, dbSNP, ExAC, freq",UPN2_074,4,106156163,G,A,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly355Asp/c.1064G>A|2002|TET2|protein_coding|CODING|ENST00000380013|3|A),6540,7104,13668,"0,5197541703",1,1,1,1,1,1,1,1,8,"4,3721",NO,NO,NO,O,rs61744960,rs61744960,NO,"0,027",NO,YES,"-2,2",Neutral,"0,005",Damaging,"34,4","35,07"
"ESP6500, dbSNP, ExAC, freq",UPN2_079,4,106156163,G,A,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly355Asp/c.1064G>A|2002|TET2|protein_coding|CODING|ENST00000380013|3|A),5132,5470,10630,"0,5145813735",1,1,1,1,1,1,1,1,8,"4,3721",NO,NO,NO,O,rs61744960,rs61744960,NO,"0,027",NO,YES,"-2,2",Neutral,"0,005",Damaging,"34,34","35,09"
"ESP6500, dbSNP, ExAC, freq",UPN2_104,4,106156163,G,A,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly355Asp/c.1064G>A|2002|TET2|protein_coding|CODING|ENST00000380013|3|A),6606,6879,13500,"0,5095555556",1,1,1,1,1,1,1,1,8,"4,3721",NO,NO,NO,O,rs61744960,rs61744960,NO,"0,027",NO,YES,"-2,2",Neutral,"0,005",Damaging,"35,19","35,35"
"ESP6500, dbSNP, ExAC, freq",UPN2_108,4,106156163,G,A,missense_variant(MODERATE|MISSENSE|gGt/gAt|p.Gly355Asp/c.1064G>A|2002|TET2|protein_coding|CODING|ENST00000380013|3|A),7459,7626,15095,"0,5052003975",1,1,1,1,1,1,1,1,8,"4,3721",NO,NO,NO,O,rs61744960,rs61744960,NO,"0,027",NO,YES,"-2,2",Neutral,"0,005",Damaging,"35,17","35,46"
"ESP6500, dbSNP, freq",UPN2_015,4,106156187,C,T,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro363Leu/c.1088C>T|2002|TET2|protein_coding|CODING|ENST00000380013|3|T),18664,8341,27042,"0,3084461208",1,1,1,0,1,1,1,1,7,"5,8953",NO,"COSM5020142, COSM5020141",soft_tissue,4,rs17253672,rs17253672,NO,"0,048",NO,YES,"-2,11",Neutral,"0,004",Damaging,"35,56","35,81"
"ESP6500, dbSNP, freq",UPN2_020,4,106156187,C,T,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro363Leu/c.1088C>T|2002|TET2|protein_coding|CODING|ENST00000380013|3|T),9387,4219,13617,"0,3098332966",1,1,0,0,1,1,1,1,6,"5,8953",NO,"COSM5020142, COSM5020141",soft_tissue,4,rs17253672,rs17253672,NO,"0,048",NO,YES,"-2,11",Neutral,"0,004",Damaging,"35,55","35,85"
"ESP6500, dbSNP, freq",UPN2_021,4,106156187,C,T,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro363Leu/c.1088C>T|2002|TET2|protein_coding|CODING|ENST00000380013|3|T),10198,4433,14638,"0,3028419183",1,1,0,0,1,1,1,1,6,"5,8953",NO,"COSM5020142, COSM5020141",soft_tissue,4,rs17253672,rs17253672,NO,"0,048",NO,YES,"-2,11",Neutral,"0,004",Damaging,"35,51","35,83"
"ESP6500, dbSNP, freq",UPN2_089,4,106156187,C,T,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro363Leu/c.1088C>T|2002|TET2|protein_coding|CODING|ENST00000380013|3|T),9845,8228,18096,"0,4546861185",1,1,0,0,1,1,1,1,6,"5,8953",NO,"COSM5020142, COSM5020141",soft_tissue,4,rs17253672,rs17253672,NO,"0,048",NO,YES,"-2,11",Neutral,"0,004",Damaging,"35,52","35,87"
"ESP6500, dbSNP, freq",UPN2_030,4,106156187,C,T,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro363Leu/c.1088C>T|2002|TET2|protein_coding|CODING|ENST00000380013|3|T),8704,12441,21169,"0,5876989938",1,1,0,0,1,1,1,1,6,"5,8953",NO,"COSM5020142, COSM5020141",soft_tissue,4,rs17253672,rs17253672,NO,"0,048",NO,YES,"-2,11",Neutral,"0,004",Damaging,"35,59","35,85"
"ESP6500, dbSNP, freq",UPN2_037,4,106156187,C,T,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro363Leu/c.1088C>T|2002|TET2|protein_coding|CODING|ENST00000380013|3|T),17710,9915,27657,"0,3584987526",1,1,1,0,1,1,1,1,7,"5,8953",NO,"COSM5020142, COSM5020141",soft_tissue,4,rs17253672,rs17253672,NO,"0,048",NO,YES,"-2,11",Neutral,"0,004",Damaging,"35,57","35,83"
"ESP6500, dbSNP, freq",UPN2_038,4,106156187,C,T,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro363Leu/c.1088C>T|2002|TET2|protein_coding|CODING|ENST00000380013|3|T),26116,11584,37725,"0,307064281",1,1,1,0,1,1,1,1,7,"5,8953",NO,"COSM5020142, COSM5020141",soft_tissue,4,rs17253672,rs17253672,NO,"0,048",NO,YES,"-2,11",Neutral,"0,004",Damaging,"35,54","35,85"
"ESP6500, dbSNP, freq",UPN2_066,4,106156187,C,T,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro363Leu/c.1088C>T|2002|TET2|protein_coding|CODING|ENST00000380013|3|T),26318,13867,40249,"0,3445302989",1,1,0,0,1,1,1,1,6,"5,8953",NO,"COSM5020142, COSM5020141",soft_tissue,4,rs17253672,rs17253672,NO,"0,048",NO,YES,"-2,11",Neutral,"0,004",Damaging,"35,2","35,68"
"ESP6500, dbSNP, freq",UPN2_073,4,106156187,C,T,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro363Leu/c.1088C>T|2002|TET2|protein_coding|CODING|ENST00000380013|3|T),10200,2871,13093,"0,2192774765",1,1,0,0,1,1,1,0,5,"5,8953",NO,"COSM5020142, COSM5020141",soft_tissue,4,rs17253672,rs17253672,NO,"0,048",NO,YES,"-2,11",Neutral,"0,004",Damaging,"35,26","35,67"
"ESP6500, dbSNP, freq",UPN2_075,4,106156187,C,T,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro363Leu/c.1088C>T|2002|TET2|protein_coding|CODING|ENST00000380013|3|T),20264,9243,29556,"0,31272838",1,1,0,0,1,1,1,1,6,"5,8953",NO,"COSM5020142, COSM5020141",soft_tissue,4,rs17253672,rs17253672,NO,"0,048",NO,YES,"-2,11",Neutral,"0,004",Damaging,"35,18","35,7"
"ESP6500, dbSNP, freq",UPN2_100,4,106156187,C,T,missense_variant(MODERATE|MISSENSE|cCt/cTt|p.Pro363Leu/c.1088C>T|2002|TET2|protein_coding|CODING|ENST00000380013|3|T),6154,9859,16024,"0,6152646031",1,1,1,0,1,1,1,1,7,"5,8953",NO,"COSM5020142, COSM5020141",soft_tissue,4,rs17253672,rs17253672,NO,"0,048",NO,YES,"-2,11",Neutral,"0,004",Damaging,"35,66","35,87"
"2 samples, neutral effect, freq",UPN2_025,4,106157191,G,A,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val698Met/c.2092G>A|2002|TET2|protein_coding|CODING|ENST00000380013|3|A),6211,6136,12363,"0,4963196635",1,1,1,1,1,0,1,1,7,NO,NO,NO,NO,O,NO,NO,NO,NO,NO,NO,"-0,25",Neutral,"0,14",Tolerated,"35,29","35,55"
"2 samples, neutral effect, freq",UPN2_096,4,106157191,G,A,missense_variant(MODERATE|MISSENSE|Gtg/Atg|p.Val698Met/c.2092G>A|2002|TET2|protein_coding|CODING|ENST00000380013|3|A),2599,2581,5188,"0,4974942174",1,1,1,1,1,0,1,1,7,NO,NO,NO,NO,O,NO,NO,NO,NO,NO,NO,"-0,25",Neutral,"0,14",Tolerated,"35,39","35,73"
"ExAC, freq",UPN2_084,4,106157389,C,A,missense_variant(MODERATE|MISSENSE|Caa/Aaa|p.Gln764Lys/c.2290C>A|2002|TET2|protein_coding|CODING|ENST00000380013|3|A),29998,32633,62795,"0,5196751334",1,1,1,1,1,1,1,1,8,NO,NO,NO,NA,NA,NO,NO,NO,"1,65E-005",NO,NO,"-1,14",Neutral,"0,03",Damaging,"33,62","34,28"
"2nd Illumina, ESP6500, ExAC, Sanger other sample",UPN2_004,4,106157698,T,C,missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr867His/c.2599T>C|2002|TET2|protein_coding|CODING|ENST00000380013|3|C),3119,2767,5898,"0,4691420821",1,1,1,1,1,1,1,1,8,"1,2442",NO,COSM327337,haematopoietic_and_lymphoid_tissue,1,NO,rs144386291,NO,"0,006894",NO,YES,"-1,75",Neutral,"0,001",Damaging,"31,23","35,04"
"ESP6500, ExAC, Sanger other sample",UPN2_046,4,106157698,T,C,missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr867His/c.2599T>C|2002|TET2|protein_coding|CODING|ENST00000380013|3|C),16574,16149,32811,"0,4921824998",1,1,1,1,1,1,1,1,8,"1,2442",NO,COSM327337,haematopoietic_and_lymphoid_tissue,1,NO,rs144386291,NO,"0,006894",NO,YES,"-1,75",Neutral,"0,001",Damaging,"29,49","34,6"
"ESP6500, ExAC, Sanger other sample",UPN2_036,4,106157698,T,C,missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr867His/c.2599T>C|2002|TET2|protein_coding|CODING|ENST00000380013|3|C),22810,16360,39254,"0,416772813",1,1,1,1,1,1,1,1,8,"1,2442",NO,COSM327337,haematopoietic_and_lymphoid_tissue,1,NO,rs144386291,NO,"0,006894",NO,YES,"-1,75",Neutral,"0,001",Damaging,"30,18","34,95"
"ESP6500, ExAC, Sanger other sample",UPN2_090,4,106157698,T,C,missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr867His/c.2599T>C|2002|TET2|protein_coding|CODING|ENST00000380013|3|C),10096,7799,17914,"0,4353578207",1,1,1,1,1,1,1,1,8,"1,2442",NO,COSM327337,haematopoietic_and_lymphoid_tissue,1,NO,rs144386291,NO,"0,006894",NO,YES,"-1,75",Neutral,"0,001",Damaging,"31,37","34,99"
"ESP6500, ExAC, Sanger other sample",UPN2_063,4,106157698,T,C,missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr867His/c.2599T>C|2002|TET2|protein_coding|CODING|ENST00000380013|3|C),12342,12778,25188,"0,5073050659",1,1,1,1,1,1,1,1,8,"1,2442",NO,COSM327337,haematopoietic_and_lymphoid_tissue,1,NO,rs144386291,NO,"0,006894",NO,YES,"-1,75",Neutral,"0,001",Damaging,"31,1","34,38"
"ESP6500, ExAC, Sanger other sample",UPN2_065,4,106157698,T,C,missense_variant(MODERATE|MISSENSE|Tat/Cat|p.Tyr867His/c.2599T>C|2002|TET2|protein_coding|CODING|ENST00000380013|3|C),14416,14055,28537,"0,4925184848",1,1,1,1,1,1,1,1,8,"1,2442",NO,COSM327337,haematopoietic_and_lymphoid_tissue,1,NO,rs144386291,NO,"0,006894",NO,YES,"-1,75",Neutral,"0,001",Damaging,"31,21","34,3"
"ESP6500, dbSNP, freq",UPN2_051,4,106158350,A,C,missense_variant(MODERATE|MISSENSE|cAa/cCa|p.Gln1084Pro/c.3251A>C|2002|TET2|protein_coding|CODING|ENST00000380013|3|C),5433,5368,10844,"0,4950202877",1,1,1,1,1,0,1,1,7,"0,3953",NO,NO,NA,NA,NO,rs75056899,NO,NO,NO,YES,"-1,72",Neutral,"0,009",Damaging,"35,29","35,11"
"ESP6500, dbSNP, freq",UPN2_010,4,106158350,A,C,missense_variant(MODERATE|MISSENSE|cAa/cCa|p.Gln1084Pro/c.3251A>C|2002|TET2|protein_coding|CODING|ENST00000380013|3|C),7443,6956,14453,"0,4812841625",1,1,1,1,1,0,1,1,7,"0,3953",NO,NO,NA,NA,NO,rs75056899,NO,NO,NO,YES,"-1,72",Neutral,"0,009",Damaging,"35,33","35,33"
"ESP6500, dbSNP, ExAC. Neutral effect, freq",UPN2_015,4,106196770,G,A,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met1701Ile/c.5103G>A|2002|TET2|protein_coding|CODING|ENST00000380013|11|A),15070,13309,28457,"0,4676880908",1,1,1,1,1,1,1,1,8,"0,7857",NO,NO,NO,O,rs62623390,rs62623390,NO,"0,003439",NO,NO,"-0,56",Neutral,"0,117",Tolerated,"34,76","34,74"
"ESP6500, dbSNP, ExAC. Neutral effect, freq",UPN2_054,4,106196770,G,A,missense_variant(MODERATE|MISSENSE|atG/atA|p.Met1701Ile/c.5103G>A|2002|TET2|protein_coding|CODING|ENST00000380013|11|A),20280,3245,23614,"0,1374184806",0,1,0,1,1,1,0,1,5,"0,7857",NO,NO,NO,O,rs62623390,rs62623390,NO,"0,003439",NO,NO,"-0,56",Neutral,"0,117",Tolerated,"34,04","34,22"
"ESP6500, ExAC. Neutral effect, freq",UPN2_078,4,106196819,G,T,missense_variant(MODERATE|MISSENSE|Gta/Tta|p.Val1718Leu/c.5152G>T|2002|TET2|protein_coding|CODING|ENST00000380013|11|T),17106,14038,31289,"0,4486560772",1,1,1,1,1,1,1,1,8,"0,66",NO,COSM41742,haematopoietic_and_lymphoid_tissue,11,NO,rs142312318,NO,"0,002662",NO,NO,"-0,34",Neutral,"0,377",Tolerated,"34,9","35,07"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_015,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),14520,16389,31031,"0,5281492701",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,49","35,34"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_020,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),7184,7110,14359,"0,4951598301",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,51","35,41"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_021,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),7457,8222,15748,"0,5220980442",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,48","35,43"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_089,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),5547,14436,20026,"0,7208628783",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,54","35,26"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_030,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),1786,21296,23116,"0,9212666551",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,46","35,38"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_005,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),12,5394,5414,"0,9963058737",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"30,5","35,27"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_045,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),19272,19244,38744,"0,4966962626",1,1,1,1,0,1,1,1,7,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,11","34,75"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_047,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),21253,22890,44351,"0,5161101215",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,11","34,82"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_048,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),9778,9582,19429,"0,4931802975",1,1,1,0,0,1,1,1,6,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,06","34,74"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_037,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),13718,15895,29708,"0,5350410664",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,53","35,4"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_038,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),20503,19890,40558,"0,4904087973",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,5","35,39"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_010,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),16645,15213,31976,"0,4757630723",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,35","35,16"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_055,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),19789,19738,39733,"0,4967659125",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,1","34,81"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_066,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),29938,28356,58490,"0,4848008207",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,09","34,68"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_067,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),30481,29601,60295,"0,4909362302",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,09","34,72"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_068,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),20216,18923,39296,"0,481550285",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,16","34,71"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_073,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),12342,11488,23930,"0,4800668617",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,16","34,74"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_075,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),17780,18272,36184,"0,5049745744",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,18","34,72"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_082,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),26431,25246,51893,"0,4865010695",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,12","34,63"
"2nd Illumina, ESP6500, dbSNP, ExAC, freq, many samples",UPN2_083,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),19567,19241,38968,"0,4937641141",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,16","34,72"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_085,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),29325,24677,54212,"0,4551944219",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,11","34,67"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_100,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),30,18277,18334,"0,9968910221",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"17,23","35,19"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_105,4,106196829,T,G,missense_variant(MODERATE|MISSENSE|tTg/tGg|p.Leu1721Trp/c.5162T>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),11492,8855,20389,"0,4343028103",1,1,1,1,1,1,1,1,8,"13,4821",NO,COSM5020013,soft_tissue,4,rs34402524,rs34402524,NO,"0,118",NO,YES,"0,03",Neutral,"0,003",Damaging,"35,54","35,23"
"Sanger other sample; ESP6500, ExAC, freq, 2nd Illumina",UPN2_004,4,106196834,C,T,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro1723Ser/c.5167C>T|2002|TET2|protein_coding|CODING|ENST00000380013|11|T),1488,1545,3037,"0,5087257162",1,1,1,1,1,1,1,1,8,"1,2256",NO,COSM1235472,"haematopoietic_and_lymphoid_tissue, skin","1, 1",NO,rs146348065,NO,"0,005322",NO,YES,"-2,81",Deleterious,"0,249",Tolerated,"35,08","35,25"
"Sanger other sample;  ESP6500, ExAC, freq,",UPN2_046,4,106196834,C,T,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro1723Ser/c.5167C>T|2002|TET2|protein_coding|CODING|ENST00000380013|11|T),14692,14460,29241,"0,4945111316",1,1,1,1,1,1,1,1,8,"1,2256",NO,COSM1235472,"haematopoietic_and_lymphoid_tissue, skin","1, 1",NO,rs146348065,NO,"0,005322",NO,YES,"-2,81",Deleterious,"0,249",Tolerated,"34,86","35,01"
"Sanger validated SNP,  ESP6500, ExAC, freq,",UPN2_036,4,106196834,C,T,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro1723Ser/c.5167C>T|2002|TET2|protein_coding|CODING|ENST00000380013|11|T),24871,19073,44020,"0,4332803271",1,1,1,1,1,1,1,1,8,"1,2256",NO,COSM1235472,"haematopoietic_and_lymphoid_tissue, skin","1, 1",NO,rs146348065,NO,"0,005322",NO,YES,"-2,81",Deleterious,"0,249",Tolerated,"35,38","35,4"
"Sanger other sample;  ESP6500, ExAC, freq,",UPN2_090,4,106196834,C,T,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro1723Ser/c.5167C>T|2002|TET2|protein_coding|CODING|ENST00000380013|11|T),9672,6973,16670,"0,4182963407",1,1,1,1,1,1,1,1,8,"1,2256",NO,COSM1235472,"haematopoietic_and_lymphoid_tissue, skin","1, 1",NO,rs146348065,NO,"0,005322",NO,YES,"-2,81",Deleterious,"0,249",Tolerated,"35,21","35,53"
"Sanger other sample;  ESP6500, ExAC, freq,",UPN2_063,4,106196834,C,T,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro1723Ser/c.5167C>T|2002|TET2|protein_coding|CODING|ENST00000380013|11|T),14241,14296,28600,"0,4998601399",1,1,1,1,1,1,1,1,8,"1,2256",NO,COSM1235472,"haematopoietic_and_lymphoid_tissue, skin","1, 1",NO,rs146348065,NO,"0,005322",NO,YES,"-2,81",Deleterious,"0,249",Tolerated,"34,77","35,08"
"Sanger other sample;  ESP6500, ExAC, freq,",UPN2_065,4,106196834,C,T,missense_variant(MODERATE|MISSENSE|Cct/Tct|p.Pro1723Ser/c.5167C>T|2002|TET2|protein_coding|CODING|ENST00000380013|11|T),16913,17135,34134,"0,5019921486",1,1,1,1,1,1,1,1,8,"1,2256",NO,COSM1235472,"haematopoietic_and_lymphoid_tissue, skin","1, 1",NO,rs146348065,NO,"0,005322",NO,YES,"-2,81",Deleterious,"0,249",Tolerated,"34,71","34,98"
"2nd Illumina,  ESP6500, dbSNP, ExAC, freq, many samples",UPN2_001,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),6316,7727,14062,"0,5494950932",0,1,1,0,1,1,1,1,6,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,82","35,45"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_014,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),14584,6303,20909,"0,3014491367",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,76","35,52"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_015,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),22672,8087,30817,"0,2624200928",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,71","35,54"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_016,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),10218,4078,14326,"0,2846572665",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,78","35,54"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_017,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),7300,3189,10508,"0,3034830605",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,7","35,56"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_018,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),6265,8111,14405,"0,563068379",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,89","35,59"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_019,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),12027,4709,16766,"0,2808660384",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,73","35,55"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_020,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),9721,4077,13814,"0,2951353699",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,79","35,53"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_003,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),2574,1064,3640,"0,2923076923",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,73","35,46"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_022,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),8231,12242,20521,"0,5965596219",1,1,0,0,1,1,0,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,88","35,57"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_023,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),9521,14103,23662,"0,5960189333",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,9","35,55"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_041,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),229,69,298,"0,2315436242",1,1,0,0,1,1,0,0,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,72","35,51"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_024,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),8431,3330,11773,"0,2828505903",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,73","35,56"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_025,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),10674,14234,24945,"0,5706153538",1,1,0,0,1,1,0,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,89","35,57"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_026,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),11328,15632,26998,"0,5790058523",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,85","35,55"
"2nd Illumina, ESP6500, dbSNP, ExAC, freq, many samples",UPN2_004,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),2424,434,2864,"0,1515363128",1,1,0,0,1,1,0,0,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,72","35,35"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_027,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),11864,16554,28455,"0,5817606747",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,88","35,59"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_089,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),16184,2917,19139,"0,1524113068",1,1,0,0,1,1,0,0,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,78","35,41"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_042,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),16699,9428,26169,"0,3602736062",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,64","35,19"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_028,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),8702,11569,20304,"0,5697892041",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,87","35,58"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_043,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),15215,6871,22125,"0,3105536723",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,69","35,21"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_044,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),2426,3931,6367,"0,6174022302",1,1,1,0,1,1,1,1,7,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,77","35,25"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_029,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),17049,7056,24153,"0,2921376227",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,76","35,56"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_045,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),22603,9910,32580,"0,3041743401",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,65","35,27"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_046,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),17995,8028,26061,"0,3080465063",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,67","35,24"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_034,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),5054,2127,7196,"0,2955808783",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,72","35,52"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_035,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),27856,13738,41665,"0,329725189",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,76","35,53"
"2nd Illumina, ESP6500, dbSNP, ExAC, freq, many samples",UPN2_006,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),10762,5969,16749,"0,3563794853",0,1,0,0,1,1,1,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,6","35,41"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_050,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),8180,16770,24971,"0,6715790317",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,84","35,23"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_037,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),21297,7437,28778,"0,2584265759",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,73","35,54"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_038,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),28897,11358,40321,"0,2816894422",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,76","35,57"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_053,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),23874,9973,33902,"0,2941714353",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,66","35,3"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_054,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),23023,2239,25317,"0,0884385986",0,1,0,0,1,1,0,0,3,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,63","35,18"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_011,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),28154,10145,38351,"0,26453026",1,1,0,0,1,1,0,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,64","35,39"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_055,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),23500,10307,33868,"0,3043285697",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,65","35,16"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_090,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),11871,3561,15455,"0,2304108703",1,1,0,0,1,1,0,0,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,8","35,31"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_058,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),11019,17206,28264,"0,6087602604",1,1,0,0,1,1,0,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,82","35,15"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_012,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),12323,5290,17637,"0,2999376311",1,1,0,0,1,1,0,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,65","35,31"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_060,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),16371,5640,22041,"0,2558867565",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,66","34,69"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_040,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),24080,36019,60189,"0,5984316071",1,1,0,0,1,1,0,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,87","35,55"
"2nd Illumina, ESP6500, dbSNP, ExAC, freq, many samples",UPN2_013,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),4780,6349,11151,"0,5693659761",1,1,1,0,1,1,1,1,7,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,81","35,41"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_091,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),7860,3579,11465,"0,3121674662",1,1,0,0,1,1,0,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,8","35,34"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_061,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),18293,6568,24902,"0,2637539153",1,1,0,0,1,1,0,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,66","34,75"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_062,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),14671,5378,20096,"0,2676154459",1,1,0,0,1,1,1,1,6,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,61","34,66"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_064,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),8105,4484,12608,"0,3556472081",1,1,0,0,1,1,1,1,6,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,59","34,72"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_067,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),28460,7236,35756,"0,2023716299",1,1,0,0,1,1,0,0,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,67","34,55"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_068,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),19966,6536,26540,"0,2462697815",1,1,0,0,1,1,0,0,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,64","34,66"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_069,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),13399,15881,29328,"0,5414961811",1,1,1,0,1,1,0,1,6,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,76","34,64"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_070,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),14605,4884,19519,"0,2502177366",1,1,0,0,1,1,1,0,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,64","34,7"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_071,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),10919,4314,15256,"0,2827739906",0,1,0,0,1,1,1,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,66","34,6"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_072,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),9833,4359,14214,"0,3066694808",0,1,0,0,1,1,1,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,6","34,68"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_073,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),9335,4716,14076,"0,3350383632",0,1,0,0,1,1,1,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,61","34,61"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_074,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),5549,7916,13489,"0,5868485433",1,1,1,0,1,1,1,1,7,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,84","34,55"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_076,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),20447,6465,26976,"0,2396574733",1,1,0,0,1,1,0,0,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,65","34,69"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_078,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),17214,7186,24438,"0,2940502496",1,1,0,0,1,1,1,1,6,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,63","34,7"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_079,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),5912,8411,14351,"0,5860915616",1,1,1,0,1,1,1,1,7,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,77","34,61"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_080,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),15068,6021,21120,"0,2850852273",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,6","34,61"
"2nd Illumina, ESP6500, dbSNP, ExAC, freq, many samples",UPN2_083,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),23730,7215,31000,"0,2327419355",0,1,0,0,1,1,0,0,3,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,65","34,79"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_085,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),23490,5626,29153,"0,1929818544",0,1,0,0,1,1,0,0,3,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,69","34,77"
"2nd Illumina,ESP6500, dbSNP, ExAC, freq, many samples",UPN2_086,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),17643,4057,21730,"0,1867004142",1,1,0,0,1,1,1,0,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,66","34,55"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_087,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),11784,17850,29692,"0,6011720329",1,1,1,0,1,1,1,1,7,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,78","34,68"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_094,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),18346,1396,19770,"0,0706120384",0,0,0,0,1,1,0,0,2,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,78","35,21"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_095,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),7278,9306,16604,"0,5604673573",1,1,0,0,1,1,0,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,88","35,41"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_096,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),13897,5497,19423,"0,2830149822",1,1,0,0,1,1,0,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,83","35,33"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_097,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),14801,5049,19885,"0,2539099824",1,1,0,0,1,1,0,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,82","35,34"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_098,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),10738,4794,15559,"0,3081174883",1,1,0,0,1,1,0,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,83","35,33"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_099,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),7474,3072,10555,"0,2910468972",1,1,0,0,1,1,1,1,6,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,79","35,42"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_103,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),8219,9828,18076,"0,5437043594",1,1,0,0,1,1,0,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,89","35,37"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_104,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),15663,6225,21927,"0,2838965659",1,1,0,0,1,1,0,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,82","35,36"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_106,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),3144,13386,16554,"0,8086263139",1,1,0,0,1,1,0,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,88","35,36"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_108,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),11421,15275,26745,"0,5711347915",1,1,0,0,1,1,0,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,9","35,33"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_110,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),19925,8255,28221,"0,2925126679",0,1,0,0,1,1,0,1,4,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,8","35,45"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_111,4,106196951,A,G,missense_variant(MODERATE|MISSENSE|Ata/Gta|p.Ile1762Val/c.5284A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),16889,6614,23541,"0,2809566289",1,1,0,0,1,1,0,1,5,"37,335",NO,COSM3760322,"haematopoietic_and_lymphoid_tissue, prostate, thyroid","2, 5, 1",rs2454206,rs2454206,NO,"0,272",NO,YES,"-0,06",Neutral,"0,047",Damaging,"35,8","35,34"
"2nd Illumina, ESP6500, dbSNP, ExAC, freq, many samples",UPN2_004,4,106197000,A,G,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His1778Arg/c.5333A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),1214,1643,2864,"0,5736731844",1,1,1,1,1,1,1,1,8,"3,017",NO,NO,NO,O,rs62621450,rs62621450,NO,"0,045",NO,YES,"-2,49",Neutral,"0,01",Damaging,"35,22","35,05"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_046,4,106197000,A,G,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His1778Arg/c.5333A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),11770,14206,26055,"0,5452312416",1,1,1,1,1,1,1,1,8,"3,017",NO,NO,NO,O,rs62621450,rs62621450,NO,"0,045",NO,YES,"-2,49",Neutral,"0,01",Damaging,"35,35","35,18"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_034,4,106197000,A,G,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His1778Arg/c.5333A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),3628,3557,7197,"0,4942337085",1,1,1,1,1,1,1,1,8,"3,017",NO,NO,NO,O,rs62621450,rs62621450,NO,"0,045",NO,YES,"-2,49",Neutral,"0,01",Damaging,"35,39","35,53"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_036,4,106197000,A,G,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His1778Arg/c.5333A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),24476,20411,44960,"0,4539813167",1,1,1,1,1,1,1,1,8,"3,017",NO,NO,NO,O,rs62621450,rs62621450,NO,"0,045",NO,YES,"-2,49",Neutral,"0,01",Damaging,"35,41","35,42"
"2nd Illumina, ESP6500, dbSNP, ExAC, freq, many samples",UPN2_006,4,106197000,A,G,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His1778Arg/c.5333A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),6971,9754,16750,"0,5823283582",1,1,1,1,1,1,1,1,8,"3,017",NO,NO,NO,O,rs62621450,rs62621450,NO,"0,045",NO,YES,"-2,49",Neutral,"0,01",Damaging,"35,49","35,36"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_090,4,106197000,A,G,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His1778Arg/c.5333A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),8733,6661,15409,"0,4322798365",1,1,1,1,1,1,1,1,8,"3,017",NO,NO,NO,O,rs62621450,rs62621450,NO,"0,045",NO,YES,"-2,49",Neutral,"0,01",Damaging,"35,4","35,37"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_063,4,106197000,A,G,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His1778Arg/c.5333A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),10521,10682,21235,"0,5030374382",1,1,1,1,1,1,1,1,8,"3,017",NO,NO,NO,O,rs62621450,rs62621450,NO,"0,045",NO,YES,"-2,49",Neutral,"0,01",Damaging,"35,19","35,08"
"ESP6500, dbSNP, ExAC, freq, many samples",UPN2_065,4,106197000,A,G,missense_variant(MODERATE|MISSENSE|cAt/cGt|p.His1778Arg/c.5333A>G|2002|TET2|protein_coding|CODING|ENST00000380013|11|G),9893,9521,19460,"0,4892600206",1,1,1,1,1,1,1,1,8,"3,017",NO,NO,NO,O,rs62621450,rs62621450,NO,"0,045",NO,YES,"-2,49",Neutral,"0,01",Damaging,"35,15","34,95"
"dbSNP, freq, many samples",UPN2_014,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),3290,3284,6595,"0,4979529947",1,1,1,1,1,0,1,1,7,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"34,58","34,34"
"dbSNP, freq, many samples",UPN2_018,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),2243,2136,4385,"0,4871151653",1,1,1,1,1,0,1,1,7,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"34,52","34,4"
"dbSNP, freq, many samples",UPN2_019,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),2570,2518,5092,"0,4945011783",1,1,1,1,1,0,1,1,7,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"34,47","34,47"
"dbSNP, freq, many samples",UPN2_089,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),3080,3043,6132,"0,4962491846",1,1,1,1,1,0,1,1,7,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"34,41","34,67"
"dbSNP, freq, many samples",UPN2_042,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),4376,4369,8772,"0,4980620155",1,1,1,1,1,0,1,1,7,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"34,52","34,02"
"dbSNP, freq, many samples",UPN2_043,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),3500,3584,7106,"0,5043625106",1,1,1,1,1,0,1,1,7,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"34,46","33,93"
"dbSNP, freq, many samples",UPN2_031,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),2285,2185,4474,"0,488377291",1,1,1,1,1,0,1,1,7,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"34,59","34,27"
"dbSNP, freq, many samples",UPN2_036,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),3546,4719,8285,"0,5695835848",1,1,1,1,1,0,1,1,7,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"34,44","34,34"
"dbSNP, freq, many samples",UPN2_038,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),5631,5676,11340,"0,5005291005",1,1,1,1,1,0,1,1,7,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"34,56","34,28"
"dbSNP, freq, many samples",UPN2_039,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),4667,1767,6444,"0,2742085661",1,1,1,1,1,0,0,1,6,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"34,6","34,31"
"dbSNP, freq, many samples",UPN2_060,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),6443,5979,12443,"0,4805111308",1,1,1,1,1,0,1,1,7,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"33,9","34,12"
"dbSNP, freq, many samples",UPN2_092,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),2028,2200,4239,"0,5189903279",1,1,1,1,1,0,1,1,7,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"34,57","34,76"
"dbSNP, freq, many samples",UPN2_063,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),5905,6132,12065,"0,5082469954",1,1,1,1,1,0,1,1,7,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"33,96","34,1"
"dbSNP, freq, many samples",UPN2_066,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),14173,13793,28025,"0,4921677074",1,1,1,1,1,0,1,1,7,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"33,93","34,15"
"dbSNP, freq, many samples",UPN2_075,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),7974,7577,15566,"0,4867660285",1,1,1,1,1,0,1,1,7,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"33,81","34,12"
"dbSNP, freq, many samples",UPN2_076,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),7091,6464,13585,"0,4758189179",1,1,1,1,1,0,1,1,7,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"33,94","34,03"
"dbSNP, freq, many samples",UPN2_079,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),4282,4235,8534,"0,4962502929",1,1,1,1,1,0,1,1,7,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"33,95","34,18"
"dbSNP, freq, many samples",UPN2_097,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),4247,1828,6089,"0,3002134998",1,1,1,1,1,0,1,1,7,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"34,53","34,71"
"dbSNP, freq, many samples",UPN2_105,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),2881,2300,5188,"0,4433307633",1,1,1,1,1,0,1,1,7,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"34,55","34,72"
"dbSNP, freq, many samples",UPN2_107,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),5534,5233,10794,"0,4848063739",1,1,1,1,1,0,1,1,7,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"34,49","34,68"
"dbSNP, freq, many samples",UPN2_110,7,148525904,C,G,missense_variant(MODERATE|MISSENSE|Gac/Cac|p.Asp185His/c.553G>C|751|EZH2|protein_coding|CODING|ENST00000320356|6|G),3686,3734,7423,"0,5030311195",1,1,1,1,1,0,1,1,7,NO,NO,COSM3762469,"soft_tissue, thyroid","3, 1",rs2302427,rs2302427,NO,NO,NO,YES,"-2,4",Neutral,"0,005",Damaging,"34,53","34,65"
"Inspected, ESP6500, ExAC, freq",UPN2_030,11,119149352,A,G,missense_variant(MODERATE|MISSENSE|Aat/Gat|p.Asn454Asp/c.1360A>G|906|CBL|protein_coding|CODING|ENST00000264033|9|G),3962,3983,7985,"0,4988102693",1,1,1,1,0,0,1,1,6,"0,0116",NO,COSM34082,haematopoietic_and_lymphoid_tissue,1,NO,rs371850672,NO,"8,24E-006",NO,NO,"-0,07",Neutral,"0,692",Tolerated,"34,38",35
"2nd Illumina, ESP6500, ExAC, freq",UPN2_083,12,12006412,G,A,missense_variant(MODERATE|MISSENSE|cGg/cAg|p.Arg127Gln/c.380G>A|452|ETV6|protein_coding|CODING|ENST00000396373|4|A),6808,6615,13442,"0,4921142687",1,1,1,1,1,0,1,1,7,"0,093",NO,NO,NO,O,NO,rs140357643,NO,"0,0005271",NO,NO,"-0,75",Neutral,"0,405",Tolerated,"32,97","34,83"
"ESP6500, 1000G, freq",UPN2_008,12,12022496,T,C,missense_variant(MODERATE|MISSENSE|cTc/cCc|p.Leu201Pro/c.602T>C|452|ETV6|protein_coding|CODING|ENST00000396373|5|C),5071,4218,9408,"0,4483418367",1,1,1,1,0,0,1,1,6,"0,6628","0,0119",NO,NO,O,NO,rs145477191,NO,NA,NO,YES,"-1,49",Neutral,"0,006",Damaging,"32,71","34,38"
"2nd Illumina, ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_001,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),5,1837,1846,"0,9951245937",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"30,8","34,36"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_014,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),17,3358,3379,"0,9937851435",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"21,76","34,39"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_015,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),31,5232,5286,"0,989784336",1,1,0,1,0,0,1,1,5,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"25,94","34,41"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_016,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),1227,1410,2644,"0,5332829047",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,96","34,13"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_017,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),595,742,1341,"0,5533184191",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"35,39","34,33"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_018,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),1236,1460,2702,"0,5403404885",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"35,25","34,51"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_019,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),18,2937,2959,"0,9925650558",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,27,"34,34"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_020,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),14,2015,2036,"0,9896856582",1,1,1,1,0,0,1,0,5,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"23,14","34,26"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_021,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),21,2970,2993,"0,9923154026",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"21,95","34,44"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_002,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),715,991,1714,"0,5781796966",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"35,06","34,34"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_003,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),1,407,408,"0,9975490196",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,14,"34,28"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_022,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),20,3637,3668,"0,9915485278",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"20,75","34,4"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_023,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),21,3469,3498,"0,9917095483",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"24,48","34,27"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_041,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),2572,3919,6514,"0,6016272644",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,74","33,68"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_024,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),12,1556,1568,"0,9923469388",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"25,75","34,2"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_025,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),21,5123,5155,"0,9937924345",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"23,24","34,35"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_026,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),15,4324,4352,"0,9935661765",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"21,8","34,39"
"2nd Illumina, ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_004,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),83,125,209,"0,5980861244",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"35,02","34,41"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_027,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),21,4547,4578,"0,9932284841",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"24,29","34,23"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_089,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),1144,1524,2673,"0,5701459035",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,62","33,99"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_042,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),63,6316,6407,"0,9857967848",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"27,02","33,48"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_028,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),17,3708,3736,"0,9925053533",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"23,06","34,4"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_043,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),28,3731,3774,"0,9886062533",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"21,86","33,58"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_029,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),16,3638,3667,"0,992091628",1,1,0,1,0,0,1,1,5,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"27,75","34,16"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_030,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),1768,2068,3842,"0,5382613222",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"35,23","34,33"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_031,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),1221,1460,2690,"0,5427509294",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"35,23","34,39"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_005,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),7,675,683,"0,9882869693",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,26,"34,12"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_032,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),13,1296,1309,"0,9900687548",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"25,77","34,11"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_046,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),45,6896,6972,"0,9890992542",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"19,87","33,68"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_033,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),1269,1469,2744,"0,5353498542",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"35,08","34,24"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_034,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),435,596,1033,"0,5769603098",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,35,"34,19"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_047,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),49,7119,7204,"0,9882009994",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"25,04","33,43"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_048,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),49,6651,6731,"0,9881146932",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"26,61","33,59"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_035,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),43,6686,6741,"0,9918409731",1,1,0,1,0,0,1,1,5,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"23,02","34,27"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_036,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),5751,6631,12412,"0,534241057",1,1,0,1,0,0,0,1,4,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"35,12","34,27"
"2nd Illumina, ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_006,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),7,1888,1897,"0,9952556668",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"24,43","33,96"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_050,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),1619,2455,4088,"0,6005381605",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,64","33,63"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_037,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),30,6010,6048,"0,9937169312",1,1,0,1,0,0,1,1,5,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"26,47","34,5"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_051,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),2390,3145,5557,"0,5659528523",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,69","33,44"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_052,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),19,3085,3115,"0,9903691814",1,1,1,1,0,0,1,0,5,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"23,42","33,68"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_038,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),48,6732,6799,"0,9901456096",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"22,35","34,41"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_039,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),6987,5618,12631,"0,444778719",1,1,0,1,0,0,0,1,4,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"35,2","34,37"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_053,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),2635,3402,6063,"0,5611083622",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,55","33,45"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_054,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),36,4166,4228,"0,9853358562",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"24,83","33,69"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_007,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),22,4776,4806,"0,9937578027",1,1,0,1,0,0,1,1,5,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"22,41","33,89"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_008,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),26,6836,6880,"0,9936046512",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"21,73","34,01"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_009,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),21,5510,5550,"0,9927927928",1,1,0,1,0,0,1,1,5,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"24,48","34,26"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_010,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),15,3895,3915,"0,9948914432",1,1,0,1,0,0,1,1,5,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"17,4","34,13"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_011,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),16,3641,3667,"0,9929097355",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"22,25","34,27"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_055,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),34,6196,6253,"0,9908843755",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"23,21","33,62"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_056,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),186,3776,3970,"0,9511335013",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"33,21","33,56"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_090,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),10,1637,1651,"0,9915202907",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"15,8","33,8"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_057,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),1296,2174,3478,"0,6250718804",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,69","33,4"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_058,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),61,7067,7157,"0,9874248987",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"23,31","33,5"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_059,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),5,432,438,"0,9863013699",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,14,"33,56"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_012,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),4,2382,2392,"0,995819398",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"30,5","34,2"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_060,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),342,520,862,"0,6032482599",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,64","33,74"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_040,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),3114,2516,5646,"0,4456252214",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"35,15","34,4"
"2nd Illumina, ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_013,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),4,1241,1258,"0,9864864865",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,25,"33,91"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_091,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),14,2551,2573,"0,9914496696",1,1,0,1,1,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"20,79","33,89"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_092,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),7,1545,1558,"0,9916559692",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"19,71","33,75"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_093,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),12,2197,2216,"0,9914259928",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"21,33","33,97"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_061,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),7,1071,1079,"0,9925857275",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"17,14","33,39"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_062,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),8,2084,2099,"0,9928537399",1,1,0,1,1,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"16,75","33,44"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_064,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),440,444,891,"0,4983164983",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,32","33,59"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_065,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),0,183,184,"0,9945652174",1,1,1,0,1,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,0,"33,6"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_067,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),1,120,121,"0,9917355372",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,14,"32,77"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_068,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),187,195,385,"0,5064935065",0,1,1,1,1,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,05","33,74"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_069,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),209,390,602,"0,6478405316",0,1,1,1,1,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,01","33,53"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_070,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),8,470,480,"0,9791666667",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,25,"33,7"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_071,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),1123,1280,2417,"0,5295821266",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,27","33,2"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_072,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),974,1504,2481,"0,6062071745",1,1,1,1,0,1,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"33,94","33,31"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_073,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),3,675,678,"0,9955752212",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,14,"33,07"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_074,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),62,108,170,"0,6352941176",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,45","33,65"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_075,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),4,1775,1787,"0,9932848349",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"29,5","33,17"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_076,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),353,551,906,"0,6081677704",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,54","32,98"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_077,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),3,441,444,"0,9932432432",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,14,"33,46"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_078,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),8,1260,1276,"0,987460815",1,1,0,1,1,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"19,5","33,59"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_079,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),3,697,704,"0,9900568182",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"23,67","33,22"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_080,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),21,1618,1643,"0,9847839318",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"26,19","33,49"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_081,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),27,3390,3425,"0,9897810219",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"18,26","33,14"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_082,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),186,312,499,"0,625250501",0,1,1,1,1,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,44","33,22"
"2nd Illumina, ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_083,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),489,487,978,"0,4979550102",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,17","34,15"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_084,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),6,907,913,"0,9934282585",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"21,33","33,34"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_085,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),169,174,345,"0,5043478261",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,67","32,78"
"2nd Illumina, ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_086,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),2,196,198,"0,9898989899",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,14,"33,71"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_087,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),201,321,523,"0,6137667304",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,78","33,2"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_088,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),231,179,411,"0,4355231144",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,3","33,48"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_094,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),867,1349,2222,"0,6071107111",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,7","33,77"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_095,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),27,3146,3179,"0,9896193772",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,29,"33,87"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_096,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),19,2363,2391,"0,9882894187",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"22,84","33,92"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_097,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),204,2448,2657,"0,921339857",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,43","33,68"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_098,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),13,2510,2529,"0,9924871491",1,1,0,1,1,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,23,"33,61"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_099,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),4,1385,1393,"0,9942569993",1,1,0,1,0,0,1,1,5,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"28,25","33,77"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_100,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),1235,1468,2708,"0,5420974889",1,1,1,1,0,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,74","33,93"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_101,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),1026,1338,2370,"0,564556962",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,74","33,94"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_102,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),14,2554,2575,"0,9918446602",1,1,0,1,1,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"22,07","33,67"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_103,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),20,3026,3051,"0,9918059653",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"20,4","33,9"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_104,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),8,2716,2729,"0,9952363503",1,1,0,1,1,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"22,25","33,83"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_105,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),59,2066,2129,"0,9704086426",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"33,08","33,77"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_106,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),1280,1580,2867,"0,5510987095",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,78","33,63"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_107,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),1457,1854,3318,"0,5587703436",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,65","33,88"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_108,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),24,4411,4442,"0,9930211616",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,25,"33,83"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_109,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),20,3774,3799,"0,9934193209",1,1,0,1,1,0,1,1,6,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"22,6","33,91"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_110,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),1336,1576,2920,"0,5397260274",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,49","33,89"
"ESP6500, 1000G, dbSNP, ExAC, freq, many samples",UPN2_111,17,7579472,G,C,missense_variant(MODERATE|MISSENSE|cCc/cGc|p.Pro72Arg/c.215C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),1307,1669,2981,"0,5598792352",1,1,1,1,1,0,1,1,7,"25,4767","0,7147","COSM3766190, COSM3766191, COSM250061, COSM3766193, COSM3766192","large_intestine, liver, pancreas, pleura, prostate, soft_tissue, stomach, upper_aerodigestive_tract, urinary_tract, central_nervous_system","10, 5, 15, 5, 5, 100, 5, 7, 5, 1",rs1042522,rs1042522,NO,"0,659",NO,YES,"-0,23",Neutral,"0,258",Tolerated,"34,76","33,89"
"freq, neutrtal effect",UPN2_103,17,7579575,G,C,missense_variant(MODERATE|MISSENSE|Caa/Gaa|p.Gln38Glu/c.112C>G|393|TP53|protein_coding|CODING|ENST00000269305|4|C),3541,3458,7029,"0,4919618722",1,1,1,1,1,0,1,1,7,NO,NO,NO,NA,NA,NO,NO,NO,NO,NO,NO,"0,15",Neutral,1,Tolerated,"33,71","34,36"
"freq, inframe, 2 samples",UPN2_015,19,33792731,G,GGCGGGT,inframe_insertion(MODERATE||ccg/cACCCGCcg|p.His195_Pro196dup/c.584_589dupACCCGC|358|CEBPA|protein_coding|CODING|ENST00000498907|1|GGCGGGT),410,168,410,"0,4097560976",1,1,1,1,0,1,0,1,6,NO,NO,NO,NA,NA,NO,NO,NO,NO,NO,NO,"0,55",Neutral,NA,NA,"33,24",NA
"freq, inframe, 2 samples",UPN2_040,19,33792731,G,GGCGGGT,inframe_insertion(MODERATE||ccg/cACCCGCcg|p.His195_Pro196dup/c.584_589dupACCCGC|358|CEBPA|protein_coding|CODING|ENST00000498907|1|GGCGGGT),121,78,121,"0,6446280992",1,1,0,1,0,1,0,1,5,NO,NO,NO,NA,NA,NO,NO,NO,NO,NO,NO,"0,55",Neutral,NA,NA,"32,26",NA
"2nd Illumina, 1000G, dbSNP, ExAC, freq, many samples",UPN2_001,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),34,8420,8476,"0,99339311",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,71","34,47"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_014,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),31,13591,13643,"0,9961885216",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"33,87","34,65"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_015,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),53,17984,18062,"0,9956815414",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,49","34,75"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_016,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),16,9117,9148,"0,9966112812",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,12","34,66"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_017,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),13,6125,6145,"0,9967453214",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,36,"34,76"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_018,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),20,9151,9182,"0,9966238292",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,6","34,72"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_019,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),20,10062,10094,"0,9968297999",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,36,"34,72"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_020,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),18,8869,8897,"0,9968528718",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,36,"34,73"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_021,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),24,10394,10440,"0,9955938697",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,08","34,75"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_002,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),34,10925,10989,"0,9941759942",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,35","34,57"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_003,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),4,2096,2106,"0,9952516619",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,36,"34,44"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_022,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),30,13618,13662,"0,9967793881",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,13","34,63"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_023,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),23,14957,14998,"0,9972663022",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,65","34,58"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_041,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),0,480,481,"0,9979209979",1,1,0,0,1,0,1,1,5,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,0,"34,39"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_024,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),16,6813,6836,"0,9966354593",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,36,"34,76"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_025,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),33,16256,16309,"0,9967502606",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,09","34,64"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_026,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),36,15980,16041,"0,9961972446",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,25","34,7"
"2nd Illumina, 1000G, dbSNP, ExAC, freq, many samples",UPN2_004,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),3,1856,1865,"0,9951742627",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,36,"34,51"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_027,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),18,17106,17139,"0,9980745668",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,56","34,71"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_089,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),20,10678,10724,"0,9957105558",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,8","34,67"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_042,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),47,17232,17323,"0,9947468683",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"33,94","34,32"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_028,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),23,12137,12179,"0,996551441",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,91","34,7"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_043,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),44,14969,15044,"0,9950146238",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,11","34,36"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_044,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),7,3808,3817,"0,9976421273",1,1,1,1,0,0,1,1,6,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,36,"34,34"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_029,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),25,14660,14699,"0,9973467583",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,8","34,66"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_030,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),22,14516,14561,"0,9969095529",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"33,41","34,72"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_031,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),23,9615,9652,"0,9961665976",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,83","34,66"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_005,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),7,3643,3662,"0,9948115784",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,43","34,54"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_045,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),80,20981,21114,"0,993700862",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,69","34,34"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_032,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),8,5174,5187,"0,9974937343",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"33,25","34,62"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_046,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),60,19708,19812,"0,9947506562",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,4","34,37"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_033,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),21,11257,11287,"0,997342075",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,1","34,69"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_034,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),9,4352,4368,"0,9963369963",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,11","34,75"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_047,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),102,20562,20716,"0,9925661325",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,07","34,31"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_048,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),33,2479,2518,"0,9845115171",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,52","34,42"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_035,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),37,12136,12183,"0,9961421653",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"33,62","34,62"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_036,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),37,12159,12212,"0,9956600066",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,05","34,63"
"2nd Illumina, 1000G, dbSNP, ExAC, freq, many samples",UPN2_006,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),8,3752,3765,"0,9965471448",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"30,5","34,47"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_049,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),38,9416,9478,"0,9934585356",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,97","34,26"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_050,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),71,19446,19572,"0,9935622318",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,13","34,28"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_037,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),43,22519,22589,"0,9969011466",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,12","34,73"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_051,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),75,15144,15257,"0,9925935636",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,77","34,28"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_052,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),54,17195,17286,"0,9947356242",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,54","34,33"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_038,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),57,24747,24832,"0,9965769974",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"33,86","34,69"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_039,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),25,11125,11167,"0,9962389182",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,08","34,7"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_053,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),66,22307,22427,"0,9946493066",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,24","34,35"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_054,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),38,14161,14230,"0,9951510892",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,45","34,33"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_007,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),47,24088,24206,"0,9951251756",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,6","34,4"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_008,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),66,33299,33451,"0,9954560402",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,39","34,48"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_009,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),83,28400,28565,"0,9942237003",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,89","34,4"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_010,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),53,18583,18683,"0,9946475405",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,92","34,41"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_011,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),46,21595,21702,"0,9950695788",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"33,83","34,41"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_055,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),40,22219,22307,"0,99605505",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,38","34,34"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_056,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),3,2222,2231,"0,9959659346",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,36,"34,46"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_090,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),21,9753,9797,"0,9955088292",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"32,67","34,66"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_057,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),39,18671,18761,"0,9952028143",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,44","34,25"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_058,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),32,16833,16922,"0,9947405744",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"32,78","34,32"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_059,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),27,7073,7122,"0,9931199101",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,74","33,61"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_012,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),23,11819,11869,"0,9957873452",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,26","34,44"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_060,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),31,10830,10901,"0,9934868361",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"33,16","33,56"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_040,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),15,9153,9183,"0,9967330938",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,47","34,66"
"2nd Illumina, 1000G, dbSNP, ExAC, freq, many samples",UPN2_013,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),13,7112,7154,"0,9941291585",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"32,62","34,42"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_091,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),10,6610,6629,"0,997133806",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"31,6","34,65"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_092,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),22,5923,5957,"0,9942924291",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,82","34,64"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_093,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),7,6491,6511,"0,9969282752",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"32,86","34,58"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_061,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),19,10969,11019,"0,9954623832",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"33,47","33,77"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_062,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),12,10442,10480,"0,9963740458",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,35,"33,67"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_063,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),18,10035,10083,"0,995239512",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,56","33,6"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_064,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),13,5555,5580,"0,9955197133",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"33,15","33,66"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_065,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),10,6689,6722,"0,9950907468",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,6","33,6"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_066,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),20,9771,9810,"0,9960244648",1,1,0,1,1,0,1,1,6,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"32,7","33,57"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_067,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),11,9068,9110,"0,9953896817",1,1,0,1,1,0,1,1,6,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,36,"33,52"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_068,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),13,7908,7945,"0,995342983",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,69","33,65"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_069,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),18,10849,10884,"0,9967842705",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,56","33,68"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_070,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),20,6813,6852,"0,9943082312",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,8","33,74"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_071,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),17,8355,8395,"0,9952352591",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"33,41","33,73"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_072,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),16,8109,8141,"0,996069279",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,75","33,64"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_073,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),9,5758,5782,"0,9958491871",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,56","33,63"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_074,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),14,5579,5608,"0,994828816",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,71","33,6"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_075,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),24,11867,11929,"0,9948025819",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"32,17","33,59"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_076,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),18,10072,10116,"0,9956504547",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,5","33,72"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_077,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),27,10630,10682,"0,9951319978",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,89","33,65"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_078,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),21,10669,10720,"0,9952425373",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,76","33,75"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_079,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),16,6968,7004,"0,99486008",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,19","33,74"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_080,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),11,10452,10505,"0,9949547834",1,1,0,1,1,0,1,1,6,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,64","33,65"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_081,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),52,8666,8745,"0,9909662664",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,21","33,52"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_082,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),30,10403,10468,"0,9937905999",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"33,3","33,58"
"2nd Illumina, 1000G, dbSNP, ExAC, freq, many samples",UPN2_083,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),18,11776,11826,"0,9957720277",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,78","33,77"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_084,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),29,10909,10970,"0,9944393801",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,52","33,75"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_085,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),11,8225,8263,"0,995401186",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,27","33,68"
"2nd Illumina, 1000G, dbSNP, ExAC, freq, many samples",UPN2_086,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),7,5685,5714,"0,9949247462",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"32,86","33,64"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_087,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),28,11106,11164,"0,9948047295",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"30,96","33,59"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_088,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),19,8143,8182,"0,9952334393",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,63","33,49"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_094,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),23,12440,12497,"0,9954389053",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"33,91","34,7"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_095,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),15,10411,10448,"0,9964586524",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,36,"34,68"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_096,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),17,11391,11419,"0,9975479464",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,71","34,78"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_097,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),31,12833,12900,"0,9948062016",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,03","34,65"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_098,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),14,9426,9458,"0,9966166209",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,71","34,69"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_099,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),12,5803,5835,"0,9945158526",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"31,58","34,66"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_100,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),21,9139,9180,"0,9955337691",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,36,"34,64"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_101,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),32,9584,9633,"0,9949133188",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,06","34,75"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_102,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),29,9975,10038,"0,9937238494",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,86","34,7"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_103,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),17,9526,9556,"0,9968606111",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,24","34,69"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_104,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),22,12235,12286,"0,9958489337",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"33,82","34,65"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_105,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),17,10972,11026,"0,995102485",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,47","34,77"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_106,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),31,12444,12515,"0,9943268078",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,03","34,67"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_107,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),35,17050,17139,"0,9948071649",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,35,"34,62"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_108,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),38,14355,14437,"0,9943201496",1,1,1,1,1,0,1,1,7,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,05","34,68"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_109,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),36,13932,13996,"0,9954272649",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,25","34,71"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_110,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),37,16015,16093,"0,9951531722",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"35,3","34,71"
"1000G, dbSNP, ExAC, freq, many samples",UPN2_111,20,31022959,T,C,missense_variant(MODERATE|MISSENSE|cTg/cCg|p.Leu815Pro/c.2444T>C|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|C),19,12195,12245,"0,9959167007",1,1,1,1,1,1,1,1,8,0,1,NO,NO,O,rs6058694,rs6058694,NO,1,NO,NO,"1,7",Neutral,"0,496",Tolerated,"34,37","34,74"
"ESP6500, 1000G, ExAC, neutral effect",UPN2_038,20,31023821,G,T,missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu1102Asp/c.3306G>T|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|T),32517,11915,44673,"0,2667159134",1,1,0,0,1,1,0,1,5,1,"0,0209",COSM36205,"haematopoietic_and_lymphoid_tissue, soft_tissue","13, 1",NO,rs139115934,NO,"0,01",NO,YES,"-1,88",Neutral,"0,057",Tolerated,"35,69","34,88"
"ESP6500, 1000G, ExAC, neutral effect",UPN2_084,20,31023821,G,T,missense_variant(MODERATE|MISSENSE|gaG/gaT|p.Glu1102Asp/c.3306G>T|1541|ASXL1|protein_coding|CODING|ENST00000375687|13|T),26947,7163,34296,"0,2088581759",1,1,0,0,1,1,0,0,4,1,"0,0209",COSM36205,"haematopoietic_and_lymphoid_tissue, soft_tissue","13, 1",NO,rs139115934,NO,"0,01",NO,YES,"-1,88",Neutral,"0,057",Tolerated,"35,46","33,43"
"ESP6500, 1000G, ExAC, neutral effect, freq",UPN2_090,21,36259324,A,G,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu56Ser/c.167T>C|480|RUNX1|protein_coding|CODING|ENST00000437180|4|G),3292,2261,5570,"0,4059245961",1,1,0,0,1,1,1,1,6,"1,4623","0,0169",COSM24756,haematopoietic_and_lymphoid_tissue,7,NO,rs111527738,NO,"0,015",NO,YES,"-0,8",Neutral,"0,65",Tolerated,"35,53","35,42"
"ESP6500, 1000G, ExAC, neutral effect, freq",UPN2_075,21,36259324,A,G,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu56Ser/c.167T>C|480|RUNX1|protein_coding|CODING|ENST00000437180|4|G),578,402,984,"0,4085365854",1,1,0,0,1,0,1,1,5,"1,4623","0,0169",COSM24756,haematopoietic_and_lymphoid_tissue,7,NO,rs111527738,NO,"0,015",NO,YES,"-0,8",Neutral,"0,65",Tolerated,"34,96","34,83"
"ESP6500, 1000G, ExAC, neutral effect, freq",UPN2_080,21,36259324,A,G,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu56Ser/c.167T>C|480|RUNX1|protein_coding|CODING|ENST00000437180|4|G),619,491,1112,"0,4415467626",1,1,0,0,1,1,1,1,6,"1,4623","0,0169",COSM24756,haematopoietic_and_lymphoid_tissue,7,NO,rs111527738,NO,"0,015",NO,YES,"-0,8",Neutral,"0,65",Tolerated,"34,92","34,88"
"ESP6500, 1000G, ExAC, neutral effect, freq",UPN2_106,21,36259324,A,G,missense_variant(MODERATE|MISSENSE|tTg/tCg|p.Leu56Ser/c.167T>C|480|RUNX1|protein_coding|CODING|ENST00000437180|4|G),4392,4641,9042,"0,5132714001",1,1,0,0,1,1,0,1,5,"1,4623","0,0169",COSM24756,haematopoietic_and_lymphoid_tissue,7,NO,rs111527738,NO,"0,015",NO,YES,"-0,8",Neutral,"0,65",Tolerated,"35,62","35,5"
"2nd Illumina, 1000G, neutral effect, freq",UPN2_001,X,15841230,C,CAGCCGG,disruptive_inframe_insertion(MODERATE||cgc/cgGAGCCGc|p.Arg448_Arg449insSerArg/c.1338_1343dupGAGCCG|482|ZRSR2|protein_coding|CODING|ENST00000307771|11|CAGCCGG|INFO_REALIGN_3_PRIME),687,641,689,"0,9303338171",1,1,0,1,0,1,0,1,5,NO,"0,0209",NO,NO,O,NO,NO,NO,NO,NO,NO,"1,19",Neutral,NA,NA,"35,09",NA
"1000G, neutral effect, freq",UPN2_010,X,15841230,C,CAGCCGG,disruptive_inframe_insertion(MODERATE||cgc/cgGAGCCGc|p.Arg448_Arg449insSerArg/c.1338_1343dupGAGCCG|482|ZRSR2|protein_coding|CODING|ENST00000307771|11|CAGCCGG|INFO_REALIGN_3_PRIME),3506,1655,3520,"0,4701704545",1,1,0,1,0,1,0,1,5,NO,"0,0209",NO,NO,O,NO,NO,NO,NO,NO,NO,"1,19",Neutral,NA,NA,"34,84",NA
"1000G, neutral effect, freq",UPN2_063,X,15841230,C,CAGCCGG,disruptive_inframe_insertion(MODERATE||cgc/cgGAGCCGc|p.Arg448_Arg449insSerArg/c.1338_1343dupGAGCCG|482|ZRSR2|protein_coding|CODING|ENST00000307771|11|CAGCCGG|INFO_REALIGN_3_PRIME),954,871,963,"0,9044652129",1,1,0,1,0,1,0,1,5,NO,"0,0209",NO,NO,O,NO,NO,NO,NO,NO,NO,"1,19",Neutral,NA,NA,"34,59",NA
"1000G, neutral effect, freq",UPN2_070,X,15841230,C,CAGCCGG,disruptive_inframe_insertion(MODERATE||cgc/cgGAGCCGc|p.Arg448_Arg449insSerArg/c.1338_1343dupGAGCCG|482|ZRSR2|protein_coding|CODING|ENST00000307771|11|CAGCCGG|INFO_REALIGN_3_PRIME),1564,1431,1574,"0,9091486658",1,1,0,1,0,1,0,1,5,NO,"0,0209",NO,NO,O,NO,NO,NO,NO,NO,NO,"1,19",Neutral,NA,NA,"34,69",NA
"1000G, neutral effect, freq",UPN2_075,X,15841230,C,CAGCCGG,disruptive_inframe_insertion(MODERATE||cgc/cgGAGCCGc|p.Arg448_Arg449insSerArg/c.1338_1343dupGAGCCG|482|ZRSR2|protein_coding|CODING|ENST00000307771|11|CAGCCGG|INFO_REALIGN_3_PRIME),1189,1077,1193,"0,9027661358",1,1,0,1,0,1,0,1,5,NO,"0,0209",NO,NO,O,NO,NO,NO,NO,NO,NO,"1,19",Neutral,NA,NA,"34,46",NA
"1000G, neutral effect, freq",UPN2_080,X,15841230,C,CAGCCGG,disruptive_inframe_insertion(MODERATE||cgc/cgGAGCCGc|p.Arg448_Arg449insSerArg/c.1338_1343dupGAGCCG|482|ZRSR2|protein_coding|CODING|ENST00000307771|11|CAGCCGG|INFO_REALIGN_3_PRIME),809,744,811,"0,9173859433",1,1,1,1,0,1,0,1,6,NO,"0,0209",NO,NO,O,NO,NO,NO,NO,NO,NO,"1,19",Neutral,NA,NA,"34,83",NA
,,,,,,,,,,,364,405,299,313,341,219,334,389,,,,,,,,,,,,,,,,,,